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"191921","10_86845284_C/T","10:86845284-86845284","T","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","rs535691408","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","0.0004","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.297","-0.310201","7","-18","-2","-23","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"191926","10_86845372_C/T","10:86845372-86845372","T","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.475","-0.214546","29","-24","-2","36","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"191931","10_86845423_C/G","10:86845423-86845423","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.132","-0.477909","15","-22","-37","5","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"191936","10_86845529_G/A","10:86845529-86845529","A","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","COSV64409374","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","1","1","-","-","-","-","-","-","-","-","-","-","-","G","0.325","-0.291254","-48","-4","39","-1","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"191941","10_86845541_C/T","10:86845541-86845541","T","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.351","-0.275559","8","-16","-13","39","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"191946","10_86845550_C/A","10:86845550-86845550","A","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.291","-0.314461","-1","-25","-1","-22","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"191951","10_86845599_C/T","10:86845599-86845599","T","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","rs1480454142","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.397","-0.250538","4","31","-31","31","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"191956","10_86845682_T/G","10:86845682-86845682","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","1.115","-0.037961","1","40","39","40","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"191961","10_86846111_T/C","10:86846111-86846111","C","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","1.950","0.083749","-36","41","2","-34","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"191966","10_86846573_T/C","10:86846573-86846573","C","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","1.216","-0.019811","-17","15","-32","-6","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"191972","10_86846650_A/G","10:86846650-86846650","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","1.657","0.046996","-41","3","35","-20","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"191978","10_86846795_T/C","10:86846795-86846795","C","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","2.092","0.100100","-39","12","45","-2","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"191984","10_86846815_A/G","10:86846815-86846815","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","4.575","0.324690","-8","-21","-22","-8","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"191989","10_86846920_C/T","10:86846920-86846920","T","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.314","-0.298669","5","0","-2","41","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"191994","10_86847054_A/G","10:86847054-86847054","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.655","-0.149418","-14","12","-17","11","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"191999","10_86847101_C/T","10:86847101-86847101","T","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.641","-0.153750","18","-45","-36","33","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"192004","10_86847102_A/G","10:86847102-86847102","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","1.248","-0.014382","-48","17","32","17","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"192009","10_86847108_T/G","10:86847108-86847108","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","1.517","0.027426","-42","11","26","11","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"192014","10_86847142_C/G","10:86847142-86847142","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.340","-0.281950","-23","31","20","-8","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"192019","10_86847243_G/A","10:86847243-86847243","A","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.334","-0.285664","37","-42","-34","0","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"192024","10_86847340_G/A","10:86847340-86847340","A","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.617","-0.161722","2","-33","2","16","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"192029","10_86847371_C/T","10:86847371-86847371","T","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","rs560316625","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","0.0004","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.055","-0.656472","-6","-15","-31","-15","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"192034","10_86847422_T/C","10:86847422-86847422","C","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","rs1235561447","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","2.328","0.125425","-40","45","-34","-9","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"192039","10_86847475_T/A","10:86847475-86847475","A","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.087","-0.562964","-8","-3","31","-2","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"192044","10_86847484_G/A","10:86847484-86847484","A","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","rs982799760","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.319","-0.295313","2","-17","24","50","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"192049","10_86847573_G/A","10:86847573-86847573","A","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.404","-0.247239","-15","1","45","0","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"192054","10_86847674_A/T","10:86847674-86847674","T","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.695","-0.136832","30","11","7","11","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"192059","10_86847826_C/G","10:86847826-86847826","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.071","-0.605363","42","36","35","50","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"192064","10_86847907_T/G","10:86847907-86847907","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.442","-0.229010","-8","50","0","46","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"192069","10_86847922_A/C","10:86847922-86847922","C","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","1.386","0.007937","35","31","31","-30","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"192074","10_86848018_G/A","10:86848018-86848018","A","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","rs1053002882","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.102","-0.530806","16","-40","8","40","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"192079","10_86848056_C/T","10:86848056-86848056","T","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","rs1347025034","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.270","-0.329539","14","-5","-30","2","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"192084","10_86848057_A/G","10:86848057-86848057","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.938","-0.074132","-23","18","42","1","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"192089","10_86848100_G/T","10:86848100-86848100","T","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.188","-0.404560","9","-49","4","-1","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"192094","10_86848121_T/C","10:86848121-86848121","C","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.786","-0.111373","-1","23","17","-17","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
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"193083","10_86875367_T/C","10:86875367-86875367","C","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.847","-0.095692","-22","49","48","0","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"193088","10_86875368_G/A","10:86875368-86875368","A","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.415","-0.241674","48","17","-3","47","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
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"193108","10_86875495_G/A","10:86875495-86875495","A","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","2/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.870","-0.090039","-34","-5","-28","-1","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
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"193128","10_86876033_C/T","10:86876033-86876033","T","synonymous_variant,NMD_transcript_variant","LOW","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","3/14","-","-","-","601","15","5","Y","taC/taT","rs1392086533","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","likely_benign","-","1","12417513,11536076","-","-","-","-","-","-","-","-","-","-","C","1.864","0.073463","12","-47","-48","49","0.00","0.00","0.03","0.00","BMPR1A","-","-","-"
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"194959","10_86912032_T/C","10:86912032-86912032","C","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","7/13","-","-","-","-","-","-","-","rs1430203839","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.041","-0.714047","-23","5","22","-2","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"194963","10_86912121_A/G","10:86912121-86912121","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","7/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.087","-0.562850","0","-34","38","-21","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"194967","10_86912182_T/C","10:86912182-86912182","C","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","7/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.053","-0.663238","35","16","30","-23","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"194971","10_86912392_A/G","10:86912392-86912392","G","splice_region_variant,intron_variant,NMD_transcript_variant","LOW","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","rs1554890236","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","likely_benign","-","1","-","-","-","-","-","-","-","-","-","-","-","A","0.278","-0.323681","-38","-40","-31","-4","0.00","0.00","0.00","0.00","BMPR1A","-","3.81281793943571E-5","0.02"
"194975","10_86912395_C/A","10:86912395-86912395","A","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.444","-0.228019","2","-41","-37","-11","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"194979","10_86912634_A/G","10:86912634-86912634","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.146","-0.457490","6","-20","37","1","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"194983","10_86912759_T/G","10:86912759-86912759","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.703","-0.134550","-26","38","-1","-6","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"194987","10_86912999_T/A","10:86912999-86912999","A","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.198","-0.393507","-28","11","-4","-29","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"194991","10_86913115_T/C","10:86913115-86913115","C","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.298","-0.309311","33","37","24","37","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"194995","10_86913209_C/T","10:86913209-86913209","T","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.407","-0.245875","-39","-35","41","-39","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"194999","10_86913248_G/A","10:86913248-86913248","A","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","rs10887671","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","0.2334","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.134","-0.474621","5","37","3","36","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195003","10_86913303_T/G","10:86913303-86913303","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.506","-0.201985","37","11","-19","-13","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195007","10_86913326_T/G","10:86913326-86913326","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.963","-0.068610","-12","14","-42","-4","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195011","10_86913505_G/T","10:86913505-86913505","T","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","1.449","0.017475","5","1","-24","0","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195015","10_86913546_G/A","10:86913546-86913546","A","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.120","-0.497718","40","-40","39","-1","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195019","10_86913651_G/A","10:86913651-86913651","A","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.516","-0.198086","17","0","-45","0","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195023","10_86913915_T/C","10:86913915-86913915","C","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.349","-0.276862","-36","19","45","19","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195027","10_86914010_A/G","10:86914010-86914010","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.551","-0.184512","21","40","21","41","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195031","10_86914040_A/G","10:86914040-86914040","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","rs894709982","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.164","-0.433530","-1","5","-1","-9","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195035","10_86914323_G/A","10:86914323-86914323","A","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.387","-0.256076","26","36","26","34","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195039","10_86914369_A/G","10:86914369-86914369","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.361","-0.270269","-20","30","-20","-12","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195043","10_86915557_T/C","10:86915557-86915557","C","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.409","-0.244814","-36","27","48","27","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195047","10_86915558_G/A","10:86915558-86915558","A","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.369","-0.265329","26","42","-11","20","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195051","10_86915644_T/C","10:86915644-86915644","C","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.535","-0.190619","-44","18","25","-12","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195055","10_86915663_A/G","10:86915663-86915663","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.725","-0.128300","1","-1","-31","6","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195059","10_86915689_C/T","10:86915689-86915689","T","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","rs145778282","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","0.0026","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.361","-0.270035","-39","-27","-36","46","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195063","10_86916194_A/C","10:86916194-86916194","C","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.045","-0.692774","3","29","-20","-34","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195067","10_86916222_G/T","10:86916222-86916222","T","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.052","-0.666631","15","1","5","-48","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195071","10_86916346_T/C","10:86916346-86916346","C","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.123","-0.493421","-10","49","-10","-6","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195075","10_86916391_G/A","10:86916391-86916391","A","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","rs1485174173","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.064","-0.625537","24","4","-6","45","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195079","10_86916402_C/G","10:86916402-86916402","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.018","-0.860136","13","42","34","42","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195083","10_86916410_G/A","10:86916410-86916410","A","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","rs1026598620","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.179","-0.414333","5","34","34","26","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
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"195091","10_86916465_G/A","10:86916465-86916465","A","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.689","-0.138850","-21","8","31","-32","0.24","0.00","0.02","0.00","BMPR1A","-","-","-"
"195095","10_86916572_A/G","10:86916572-86916572","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","8/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","1.302","-0.005338","-5","-32","-5","33","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
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"195287","10_86920996_T/C","10:86920996-86920996","C","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","10/13","-","-","-","-","-","-","-","rs891882307","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.664","-0.146572","43","-46","21","-46","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195291","10_86921013_C/T","10:86921013-86921013","T","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","10/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.139","-0.467188","4","26","4","26","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195295","10_86921043_A/G","10:86921043-86921043","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","10/13","-","-","-","-","-","-","-","rs1464556876","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.725","-0.128280","-4","2","46","-26","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195299","10_86921153_T/C","10:86921153-86921153","C","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","10/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.399","-0.249948","21","39","46","39","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195303","10_86921264_G/T","10:86921264-86921264","T","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","10/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","1.392","0.008959","18","-5","-27","42","0.00","0.00","0.01","0.00","BMPR1A","-","-","-"
"195307","10_86921292_T/C","10:86921292-86921292","C","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","10/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","6.676","0.516558","-33","20","14","-35","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195311","10_86921317_G/T","10:86921317-86921317","T","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","10/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.184","-0.408865","8","-22","-11","41","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195315","10_86921499_C/A","10:86921499-86921499","A","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","10/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.315","-0.297633","35","21","26","33","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195319","10_86921835_A/G","10:86921835-86921835","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","11/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.835","-0.098655","-1","6","-37","5","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195323","10_86922001_A/G","10:86922001-86922001","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","11/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","1.003","-0.060180","1","36","40","-14","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195327","10_86922002_A/G","10:86922002-86922002","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","11/13","-","-","-","-","-","-","-","rs1411832698","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","1.094","-0.042119","31","35","-1","33","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195331","10_86922052_A/G","10:86922052-86922052","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","11/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.700","-0.135561","-15","2","26","-2","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
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"195343","10_86922197_A/C","10:86922197-86922197","C","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","11/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.843","-0.096572","6","25","-9","25","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
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"195351","10_86922480_C/T","10:86922480-86922480","T","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","11/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","1.723","0.055713","30","-10","11","8","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195356","10_86922693_T/G","10:86922693-86922693","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","11/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.396","-0.251191","-29","9","-29","9","0.01","0.00","0.00","0.00","BMPR1A","-","-","-"
"195361","10_86922698_A/G","10:86922698-86922698","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","11/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","1.643","0.045017","-34","4","-34","4","0.01","0.00","0.00","0.00","BMPR1A","-","-","-"
"195366","10_86922719_A/G","10:86922719-86922719","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","11/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","3.867","0.263843","-17","8","-35","-46","0.01","0.00","0.00","0.00","BMPR1A","-","-","-"
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"195376","10_86922907_C/T","10:86922907-86922907","T","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","11/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","1.548","0.031863","-22","-44","-44","50","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195381","10_86923064_A/G","10:86923064-86923064","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","11/13","-","-","-","-","-","-","-","rs774541802","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.361","-0.269861","-13","12","-1","23","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195385","10_86923133_A/G","10:86923133-86923133","G","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","11/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.770","-0.115474","-9","-4","-1","-8","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195389","10_86923314_C/A","10:86923314-86923314","A","intron_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","11/13","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.095","-0.545198","23","-38","-44","-46","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195393","10_86923373_T/C","10:86923373-86923373","C","splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant","LOW","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","-","11/13","-","-","-","-","-","-","-","rs771504880","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","conflicting_interpretations_of_pathogenicity,uncertain_significance","-","1","9536098,17576681","-","-","-","-","-","-","-","11.459","-0.821","10.638","T","2.312","0.123711","3","-36","40","3","0.00","0.00","0.00","0.00","BMPR1A","-","2.02978447455064E-4","0.01"
"195397","10_86924122_T/C","10:86924122-86924122","C","3_prime_UTR_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","13/14","-","-","-","2588","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","13.61","1.197234","46","-1","15","6","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195401","10_86924230_G/A","10:86924230-86924230","A","3_prime_UTR_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","13/14","-","-","-","2696","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.332","-0.287400","31","1","6","1","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
"195405","10_86924245_C/G","10:86924245-86924245","G","3_prime_UTR_variant,NMD_transcript_variant","MODIFIER","BMPR1A","ENSG00000107779","Transcript","ENST00000638429.1","nonsense_mediated_decay","13/14","-","-","-","2711","-","-","-","-","-","-","1","-","HGNC","HGNC:1076","-","-","5","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","1.397","0.009732","-10","-14","-34","-14","0.00","0.00","0.00","0.00","BMPR1A","-","-","-"
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"197925","10_87696393_C/G","10:87696393-87696393","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","rs1025678995","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.265","-0.333518","1","-16","-31","-16","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
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"197933","10_87696473_C/T","10:87696473-87696473","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.874","-0.088932","-7","32","-7","29","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
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"197941","10_87696904_G/T","10:87696904-87696904","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.094","-0.548794","-2","-48","-2","26","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
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"197953","10_87697102_A/G","10:87697102-87697102","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","rs1564715358","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","1.952","0.084009","-19","38","46","-19","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
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"197962","10_87697297_C/T","10:87697297-87697297","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","rs909083724","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.168","-0.427779","17","-49","17","-13","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
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"197972","10_87697402_A/G","10:87697402-87697402","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","3.903","0.266964","10","3","-14","3","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
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"197997","10_87698121_G/A","10:87698121-87698121","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","rs538496317","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.129","-0.483104","-34","50","2","-38","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198001","10_87698244_G/T","10:87698244-87698244","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","1.957","0.084684","18","1","-19","1","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198005","10_87698302_A/T","10:87698302-87698302","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","2.116","0.102772","27","-40","-40","17","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198009","10_87698322_T/C","10:87698322-87698322","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","1.053","-0.050070","-30","-1","-3","-13","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
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"198017","10_87698569_A/T","10:87698569-87698569","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","2.012","0.091070","-6","-31","-21","30","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198021","10_87698608_A/G","10:87698608-87698608","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","rs1037758671","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.166","-0.430086","-1","-27","-1","-9","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198025","10_87698703_G/T","10:87698703-87698703","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.120","-0.498460","14","50","8","49","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198029","10_87698705_T/G","10:87698705-87698705","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","1.479","0.021995","1","12","47","12","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
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"198037","10_87698769_A/G","10:87698769-87698769","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.307","-0.303460","-16","-35","-16","-17","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198041","10_87698874_A/G","10:87698874-87698874","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","rs1044239422","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.341","-0.281690","1","36","48","2","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198045","10_87698928_G/A","10:87698928-87698928","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","6.331","0.483461","27","1","15","-6","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198049","10_87699065_G/C","10:87699065-87699065","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.868","-0.090375","-4","1","-10","1","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198053","10_87699126_A/G","10:87699126-87699126","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","2.422","0.134964","-44","27","-48","-35","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198057","10_87699440_C/G","10:87699440-87699440","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","3.744","0.253387","32","13","-1","11","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198061","10_87700095_T/C","10:87700095-87700095","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","3.310","0.216220","41","34","32","-15","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198067","10_87700103_A/C","10:87700103-87700103","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.088","-0.561427","33","26","24","-23","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198072","10_87700129_T/C","10:87700129-87700129","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.907","-0.081310","44","7","-49","-2","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198077","10_87700166_A/G","10:87700166-87700166","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.091","-0.555222","-37","7","-16","2","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198082","10_87700419_T/G","10:87700419-87700419","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","1.180","-0.026068","1","-32","0","48","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198087","10_87700437_A/G","10:87700437-87700437","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","1.871","0.074300","-50","26","30","12","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198092","10_87700469_T/C","10:87700469-87700469","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","rs1328010755","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","1.311","-0.003913","-20","30","-44","-2","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198097","10_87700608_G/T","10:87700608-87700608","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.252","-0.344246","7","34","-9","34","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198102","10_87700637_G/A","10:87700637-87700637","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.435","-0.232134","-3","24","-3","5","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198107","10_87701123_G/A","10:87701123-87701123","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","3.079","0.196087","17","40","17","-38","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198112","10_87701170_G/T","10:87701170-87701170","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.614","-0.162726","14","26","-30","-41","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198117","10_87701502_C/G","10:87701502-87701502","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","1.247","-0.014577","1","-47","10","-22","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198123","10_87701522_A/C","10:87701522-87701522","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.876","-0.088547","21","2","-42","44","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198131","10_87701525_A/G","10:87701525-87701525","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","1.178","-0.026503","42","-40","41","-45","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198139","10_87701617_A/C","10:87701617-87701617","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","rs978187657","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","1.031","-0.054374","19","-7","-31","-7","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198144","10_87701683_T/C","10:87701683-87701683","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","1.493","0.024079","-47","6","19","4","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198149","10_87701714_C/T","10:87701714-87701714","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","rs1033655541","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.917","-0.079061","27","-4","-12","29","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198154","10_87701904_C/A","10:87701904-87701904","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.814","-0.104029","-3","34","-3","15","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198159","10_87701905_A/G","10:87701905-87701905","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","1.040","-0.052566","-11","13","14","25","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198164","10_87701922_G/A","10:87701922-87701922","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","1.747","0.058762","2","-19","-3","19","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198169","10_87702120_G/A","10:87702120-87702120","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","2.178","0.109564","39","1","-14","5","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198174","10_87702314_C/G","10:87702314-87702314","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.939","-0.074091","-1","24","-1","24","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198179","10_87702474_C/T","10:87702474-87702474","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.246","-0.348754","-35","3","4","25","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198184","10_87702590_G/A","10:87702590-87702590","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.107","-0.520753","-26","1","40","-1","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198189","10_87702672_A/G","10:87702672-87702672","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","1.216","-0.019793","-30","28","-30","9","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198194","10_87702761_T/A","10:87702761-87702761","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.149","-0.452460","-34","9","3","0","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198199","10_87702812_C/G","10:87702812-87702812","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.264","-0.334391","1","-1","-48","-20","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198203","10_87702835_C/T","10:87702835-87702835","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.313","-0.299204","-24","-43","-2","-42","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198207","10_87703308_T/C","10:87703308-87703308","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","4.320","0.302692","-8","22","-4","-28","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198211","10_87703309_G/A","10:87703309-87703309","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","3.106","0.198480","2","21","-3","-29","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198215","10_87703490_C/T","10:87703490-87703490","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","1.185","-0.025192","-27","-32","16","21","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198219","10_87703754_G/A","10:87703754-87703754","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.382","-0.258781","10","1","10","-1","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
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"198398","10_87708675_G/A","10:87708675-87708675","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","rs910909559","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.280","-0.322130","-43","1","45","-43","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198402","10_87708789_T/G","10:87708789-87708789","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","1.251","-0.013810","-12","28","14","-19","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198406","10_87708790_T/G","10:87708790-87708790","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.232","-0.360953","-13","27","13","-2","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198410","10_87708838_A/G","10:87708838-87708838","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","1.517","0.027511","1","4","1","-35","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198414","10_87708857_T/C","10:87708857-87708857","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","3.960","0.271856","-15","47","-15","16","0.01","0.00","0.00","0.00","PAPSS2","-","-","-"
"198418","10_87709048_A/G","10:87709048-87709048","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","1/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.979","-0.065231","1","-30","-42","1","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198422","10_87709578_G/A","10:87709578-87709578","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","2/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.755","-0.119591","-9","-3","-9","-43","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198426","10_87709721_A/G","10:87709721-87709721","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","2/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","3.030","0.191773","45","24","-1","-10","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198430","10_87710119_T/C","10:87710119-87710119","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","2/12","-","-","-","-","-","-","-","rs1416777140","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.044","-0.699943","-40","11","10","0","0.00","0.00","0.01","0.00","PAPSS2","-","-","-"
"198434","10_87710159_G/A","10:87710159-87710159","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","2/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","1.467","0.020155","25","-29","-30","-29","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198438","10_87710184_G/C","10:87710184-87710184","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","2/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","1.075","-0.045621","-7","0","-44","-1","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198442","10_87710186_G/A","10:87710186-87710186","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","2/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.044","-0.696812","2","-2","-3","-2","0.00","0.00","0.01","0.00","PAPSS2","-","-","-"
"198446","10_87710245_T/C","10:87710245-87710245","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","2/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","1.131","-0.035061","25","9","12","-2","0.01","0.00","0.00","0.00","PAPSS2","-","-","-"
"198450","10_87710246_G/A","10:87710246-87710246","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","2/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.165","-0.431673","2","24","2","-48","0.11","0.00","0.00","0.00","PAPSS2","-","-","-"
"198454","10_87710737_T/A","10:87710737-87710737","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","2/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.306","-0.303885","-50","-3","36","-18","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198458","10_87710787_C/T","10:87710787-87710787","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","2/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.303","-0.305516","6","-34","-2","-14","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198462","10_87710788_A/G","10:87710788-87710788","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","2/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.565","-0.179546","-35","5","50","33","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198466","10_87710860_A/G","10:87710860-87710860","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","2/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.189","-0.403140","-16","-2","46","1","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198470","10_87710864_G/A","10:87710864-87710864","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","2/12","-","-","-","-","-","-","-","rs1490040321","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.087","-0.563436","26","-20","-3","42","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198474","10_87711118_C/T","10:87711118-87711118","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","2/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","1.343","0.001268","14","-34","14","-38","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198478","10_87711153_C/G","10:87711153-87711153","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","2/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.152","-0.449281","-21","13","34","-21","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198482","10_87711258_T/G","10:87711258-87711258","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","2/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","1.518","0.027606","26","-21","-39","-2","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198486","10_87711291_T/C","10:87711291-87711291","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","2/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.667","-0.145541","-50","12","24","-35","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198490","10_87711324_G/A","10:87711324-87711324","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","2/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","1.950","0.083758","5","-1","-9","-1","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198494","10_87712567_T/C","10:87712567-87712567","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","2/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.467","-0.218265","46","-30","-24","15","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198498","10_87712643_T/G","10:87712643-87712643","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","2/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.264","-0.334543","1","-1","0","-1","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198502","10_87712928_C/T","10:87712928-87712928","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","2/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.140","-0.466298","-39","-1","-8","-4","0.00","0.00","0.02","0.00","PAPSS2","-","-","-"
"198506","10_87713002_A/G","10:87713002-87713002","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","2/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.279","-0.323160","-20","50","44","-26","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198510","10_87713100_G/A","10:87713100-87713100","A","synonymous_variant","LOW","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","3/13","-","-","-","275","171","57","T","acG/acA","rs765160394,COSV100753661","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","0,1","0,1","-","-","-","-","-","-","-","-","-","-","-","G","0.841","-0.097166","6","-48","-11","0","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198514","10_87713189_G/A","10:87713189-87713189","A","missense_variant","MODERATE","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","3/13","-","-","-","364","260","87","R/K","aGa/aAa","rs868084232","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","tolerated_low_confidence(1)","benign(0.001)","-","-","-","-","-","-","-","-","-","-","Benign","0.04644073105899079","-","-","-","G","14.46","1.310607","28","1","-20","35","0.01","0.00","0.00","0.00","PAPSS2","2","-","-"
"198518","10_87713454_A/C","10:87713454-87713454","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","3/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","2.406","0.133346","5","44","5","-38","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198523","10_87713532_A/G","10:87713532-87713532","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","3/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","2.629","0.155149","-16","2","41","5","0.02","0.00","0.01","0.00","PAPSS2","-","-","-"
"198528","10_87713675_G/A","10:87713675-87713675","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","3/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.072","-0.603493","2","-41","-7","13","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198533","10_87714028_T/A","10:87714028-87714028","A","splice_polypyrimidine_tract_variant,intron_variant","LOW","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","3/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","9.616","0.739","10.355","T","0.038","-0.727328","-8","16","16","44","0.00","0.01","0.00","0.00","PAPSS2","-","-","-"
"198537","10_87714333_G/A","10:87714333-87714333","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","4/12","-","-","-","-","-","-","-","rs1319412549","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.003","-1.122775","-15","1","23","-15","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198541","10_87714356_G/T","10:87714356-87714356","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","4/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.064","-0.624613","5","-38","-24","0","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198545","10_87714401_A/G","10:87714401-87714401","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","4/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.019","-0.849452","-25","-45","31","-45","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198549","10_87714497_G/T","10:87714497-87714497","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","4/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","1.126","-0.036054","14","-1","14","-1","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198553","10_87714738_T/C","10:87714738-87714738","C","splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant","LOW","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","4/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","7.976","-0.423","7.554","T","0.401","-0.248772","-24","7","15","-7","0.32","0.02","0.00","0.00","PAPSS2","-","4.17880567098933E-5","0.05"
"198557","10_87714836_C/G","10:87714836-87714836","G","missense_variant","MODERATE","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","5/13","-","-","-","716","612","204","H/Q","caC/caG","rs17125223","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","tolerated_low_confidence(1)","benign(0)","-","-","-","-","-","-","-","-","-","-","Benign","0.03461753151048001","-","-","-","C","11.67","1.004000","-16","4","27","3","0.01","0.00","0.00","0.00","PAPSS2","0","-","-"
"198561","10_87714970_G/T","10:87714970-87714970","T","splice_polypyrimidine_tract_variant,intron_variant","LOW","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","5/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","9.127","-0.672","8.455","G","3.064","0.194785","-11","-19","42","20","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198565","10_87714997_T/C","10:87714997-87714997","C","missense_variant","MODERATE","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","6/13","-","-","-","756","652","218","Y/H","Tat/Cat","rs752747677","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","tolerated_low_confidence(0.67)","benign(0)","-","-","-","-","-","-","-","-","-","-","Benign","0.07508663928586816","-","-","-","T","14.33","1.292174","-38","-46","0","-7","0.00","0.00","0.00","0.00","PAPSS2","2","-","-"
"198569","10_87715123_T/G","10:87715123-87715123","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","6/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","7.822","0.632163","-24","-19","-30","-21","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198573","10_87715182_A/G","10:87715182-87715182","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","6/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","1.850","0.071749","40","35","0","11","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198577","10_87715200_A/T","10:87715200-87715200","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","6/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.119","-0.498764","37","22","42","-7","0.04","0.00","0.00","0.00","PAPSS2","-","-","-"
"198581","10_87715210_T/C","10:87715210-87715210","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","6/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.403","-0.247699","3","27","45","27","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198585","10_87715231_T/G","10:87715231-87715231","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","6/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","1.083","-0.044211","1","6","-38","30","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198589","10_87715487_A/G","10:87715487-87715487","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","6/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","2.667","0.158732","1","-5","15","-26","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198593","10_87715565_A/C","10:87715565-87715565","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","6/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.196","-0.395836","-19","35","34","-1","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198597","10_87715605_G/A","10:87715605-87715605","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","6/12","-","-","-","-","-","-","-","rs1261073995","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","8.269","0.679846","-25","-5","-6","-19","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198602","10_87715886_A/G","10:87715886-87715886","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","7/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.181","-0.412131","38","19","38","-43","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198607","10_87716084_G/A","10:87716084-87716084","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","7/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","1.169","-0.028165","-47","-21","8","-1","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198612","10_87716183_A/G","10:87716183-87716183","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","7/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","2.936","0.183377","-46","2","16","-44","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198617","10_87716232_T/G","10:87716232-87716232","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","7/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.449","-0.225933","11","12","11","-33","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198622","10_87716299_G/A","10:87716299-87716299","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","7/12","-","-","-","-","-","-","-","rs895365758","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","1.644","0.045227","-3","-1","-3","-15","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198627","10_87716466_G/A","10:87716466-87716466","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","7/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.166","-0.431064","-34","19","5","-1","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198632","10_87716495_A/G","10:87716495-87716495","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","7/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","5.126","0.373135","-1","29","-1","-30","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198637","10_87716598_C/T","10:87716598-87716598","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","7/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.534","-0.191111","7","50","-2","27","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198642","10_87716652_G/A","10:87716652-87716652","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","7/12","-","-","-","-","-","-","-","rs902644930","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.782","-0.112323","-3","-2","-3","-27","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198647","10_87716774_C/A","10:87716774-87716774","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","7/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.011","-0.945971","-42","-11","-19","31","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198652","10_87716854_A/C","10:87716854-87716854","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","7/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.537","-0.189918","43","-35","-49","4","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198656","10_87716935_G/A","10:87716935-87716935","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","7/12","-","-","-","-","-","-","-","rs1187667259","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.473","-0.215440","40","-38","7","40","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198660","10_87716946_C/T","10:87716946-87716946","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","7/12","-","-","-","-","-","-","-","rs949477374","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.050","-0.672653","7","29","-39","28","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198664","10_87717027_A/G","10:87717027-87717027","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","7/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","2.467","0.139401","1","42","-10","-30","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198669","10_87717086_T/G","10:87717086-87717086","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","7/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","2.132","0.104571","-17","28","0","28","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198674","10_87721275_A/G","10:87721275-87721275","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","7/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","2.495","0.142158","48","31","25","-20","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198676","10_87721679_T/C","10:87721679-87721679","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","7/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","3.359","0.220404","-18","23","17","-38","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198679","10_87721706_G/T","10:87721706-87721706","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","7/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","4.948","0.357335","13","50","4","50","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198682","10_87721883_G/A","10:87721883-87721883","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","8/12","-","-","-","-","-","-","-","rs774166133","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","5.332","0.391480","2","-8","2","28","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198685","10_87721907_C/T","10:87721907-87721907","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","8/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","9.124","0.772592","6","32","-2","4","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198688","10_87721967_C/T","10:87721967-87721967","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","8/12","-","-","-","-","-","-","-","rs1005857693","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","1.636","0.044139","13","-28","-43","46","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198691","10_87721991_G/A","10:87721991-87721991","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","8/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.707","-0.133386","39","-33","-16","22","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198694","10_87722130_C/T","10:87722130-87722130","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","8/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","1.272","-0.010337","-25","7","-42","7","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198697","10_87722688_G/A","10:87722688-87722688","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","8/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.116","-0.504106","-44","-5","37","-5","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198700","10_87722860_T/C","10:87722860-87722860","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","8/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","3.386","0.222749","35","10","14","-12","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198703","10_87723151_T/A","10:87723151-87723151","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","8/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","1.161","-0.029589","25","6","-17","-47","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
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"198715","10_87724458_A/T","10:87724458-87724458","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","8/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","4.639","0.330306","8","2","-14","-4","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198718","10_87724513_C/T","10:87724513-87724513","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","8/12","-","-","-","-","-","-","-","rs1035485596","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.192","-0.400047","27","-19","-2","6","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
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"198723","10_87726698_C/G","10:87726698-87726698","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","8/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.235","-0.358232","45","42","19","-4","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
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"198727","10_87726805_A/G","10:87726805-87726805","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","8/12","-","-","-","-","-","-","-","rs1235967133","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","11.89","1.021363","-3","2","26","-3","0.02","0.00","0.02","0.00","PAPSS2","-","-","-"
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"198733","10_87727248_A/G","10:87727248-87727248","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","8/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.002","-1.242951","36","6","49","36","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198735","10_87727322_G/A","10:87727322-87727322","A","missense_variant","MODERATE","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","9/13","-","-","-","1023","919","307","V/I","Gtc/Atc","rs762088120,COSV63262451","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","tolerated_low_confidence(0.4)","benign(0.007)","-","uncertain_significance","0,1","1,1","-","-","-","-","-","-","Benign","0.10857476807552836","-","-","-","G","0.194","-0.398103","10","-38","-38","31","0.00","0.00","0.00","0.00","PAPSS2","3","-","-"
"198737","10_87727408_C/T","10:87727408-87727408","T","synonymous_variant","LOW","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","9/13","-","-","-","1109","1005","335","D","gaC/gaT","rs183111777,COSV63262646","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","0.0002","-","0,1","0,1","-","-","-","-","-","-","-","-","-","-","-","C","1.873","0.074549","21","1","-18","27","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198739","10_87727524_G/T","10:87727524-87727524","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","1.974","0.086619","49","-35","-35","-41","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198741","10_87727531_A/C","10:87727531-87727531","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","1.183","-0.025608","-18","42","-38","-42","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198743","10_87727638_C/T","10:87727638-87727638","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.156","-0.442895","47","-9","-23","19","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198745","10_87727666_A/T","10:87727666-87727666","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.388","-0.255438","50","-37","-2","-9","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198747","10_87727867_C/A","10:87727867-87727867","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","1.503","0.025460","17","4","-1","4","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198749","10_87727872_G/A","10:87727872-87727872","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.027","-0.790126","14","-1","-3","-1","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198751","10_87727891_A/G","10:87727891-87727891","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.068","-0.613896","48","-20","-24","48","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198753","10_87727902_T/C","10:87727902-87727902","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","2.754","0.166851","-16","37","37","-31","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198755","10_87727903_G/A","10:87727903-87727903","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.003","-1.133562","38","36","-32","36","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198757","10_87727936_G/A","10:87727936-87727936","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","3.597","0.240824","4","-1","3","-1","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198759","10_87727970_A/G","10:87727970-87727970","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.058","-0.645315","-5","-31","-5","-31","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198761","10_87727976_C/T","10:87727976-87727976","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","2.720","0.163685","9","-37","-29","-37","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198763","10_87729113_A/T","10:87729113-87729113","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","1.580","0.036409","-2","-23","-2","-34","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198765","10_87729114_A/C","10:87729114-87729114","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","2.629","0.155138","-19","43","-34","-35","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198767","10_87731534_C/T","10:87731534-87731534","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","rs1242727454","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.219","-0.373208","44","-25","-31","-25","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198769","10_87731643_C/T","10:87731643-87731643","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.571","-0.177349","-1","1","-15","19","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198771","10_87731711_A/G","10:87731711-87731711","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","6.863","0.534674","-17","2","6","2","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198773","10_87731943_G/A","10:87731943-87731943","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.601","-0.167120","4","1","-35","-19","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198775","10_87732065_A/C","10:87732065-87732065","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.605","-0.165757","43","34","43","-17","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198777","10_87732080_G/A","10:87732080-87732080","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.692","-0.137908","37","28","-18","28","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198779","10_87732121_T/C","10:87732121-87732121","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.431","-0.233972","-13","29","20","-39","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198781","10_87732175_G/A","10:87732175-87732175","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","rs1403313881","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.190","-0.402703","-25","0","-25","0","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
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"198785","10_87732357_G/A","10:87732357-87732357","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.909","-0.080815","47","-48","15","-1","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
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"198789","10_87732706_T/C","10:87732706-87732706","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","rs1222798930","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","1.765","0.061107","-25","7","6","7","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198791","10_87732748_C/T","10:87732748-87732748","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.224","-0.368043","11","-35","-36","-35","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
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"198795","10_87732818_T/G","10:87732818-87732818","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.366","-0.267106","28","36","-1","-16","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
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"198799","10_87732862_G/A","10:87732862-87732862","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.735","-0.125388","-8","0","32","-27","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198801","10_87732870_G/A","10:87732870-87732870","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","rs754742537","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.848","-0.095301","15","-16","-35","24","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198803","10_87732995_C/T","10:87732995-87732995","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","rs1381017313","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.045","-0.694963","47","-49","-35","4","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198805","10_87733285_C/T","10:87733285-87733285","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.444","-0.228341","15","-20","-2","8","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198807","10_87733309_A/C","10:87733309-87733309","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.910","-0.080531","33","-44","-44","33","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198809","10_87733320_A/G","10:87733320-87733320","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","rs568642938","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","0.0004","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","2.652","0.157305","-47","14","22","-27","0.00","0.00","0.01","0.00","PAPSS2","-","-","-"
"198811","10_87733448_A/T","10:87733448-87733448","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.124","-0.491647","-45","2","-2","2","0.00","0.00","0.05","0.00","PAPSS2","-","-","-"
"198813","10_87733533_G/A","10:87733533-87733533","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","1.323","-0.002043","-2","-30","-43","45","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198815","10_87733962_C/A","10:87733962-87733962","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.053","-0.662777","2","-6","-20","12","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198817","10_87734048_T/C","10:87734048-87734048","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.160","-0.437999","-15","43","10","-21","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198820","10_87734221_G/T","10:87734221-87734221","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.030","-0.768398","18","-50","-16","21","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198823","10_87734424_T/C","10:87734424-87734424","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","rs985946099","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","2.711","0.162842","-18","25","-19","-6","0.02","0.00","0.00","0.00","PAPSS2","-","-","-"
"198826","10_87734559_G/A","10:87734559-87734559","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","rs1367685279","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","1.125","-0.036157","2","-45","-40","45","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198829","10_87734689_A/G","10:87734689-87734689","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","rs1285986878","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","0.112","-0.511469","39","12","-31","-25","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198832","10_87734695_A/G","10:87734695-87734695","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","1.085","-0.043690","33","-18","-37","11","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198835","10_87734697_A/G","10:87734697-87734697","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","1.015","-0.057788","31","14","-39","9","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198838","10_87734701_A/G","10:87734701-87734701","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","rs1564727398","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","1.021","-0.056379","27","-39","-43","5","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198841","10_87734794_T/C","10:87734794-87734794","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.323","-0.292886","1","-9","24","15","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198844","10_87734906_C/T","10:87734906-87734906","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","rs544504407","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","2.315","0.124106","12","-29","12","46","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198848","10_87735173_G/A","10:87735173-87735173","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.656","-0.148899","-20","36","-6","-25","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198852","10_87735283_C/A","10:87735283-87735283","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.332","-0.286810","-48","39","37","-5","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198856","10_87735316_A/T","10:87735316-87735316","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.855","-0.093724","29","2","29","4","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198860","10_87735389_C/T","10:87735389-87735389","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.695","-0.136996","-44","-8","27","0","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198864","10_87735460_T/G","10:87735460-87735460","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","1.398","0.009831","-1","6","-44","6","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198868","10_87735465_A/T","10:87735465-87735465","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.628","-0.158124","7","1","50","1","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198872","10_87735472_T/C","10:87735472-87735472","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.106","-0.523301","-15","-6","43","-6","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198876","10_87735486_C/T","10:87735486-87735486","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.991","-0.062626","-20","41","-20","41","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198880","10_87735750_C/T","10:87735750-87735750","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","3.269","0.212703","13","46","-37","19","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198884","10_87735843_G/A","10:87735843-87735843","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","1.404","0.010665","50","1","50","21","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198887","10_87735923_T/C","10:87735923-87735923","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.671","-0.144228","-30","-25","16","-31","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198890","10_87736070_C/T","10:87736070-87736070","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.379","-0.260039","16","-35","-36","-4","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198893","10_87736124_A/G","10:87736124-87736124","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.196","-0.395915","29","-38","-1","11","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198896","10_87736710_G/A","10:87736710-87736710","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.147","-0.455637","2","17","-3","-1","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198898","10_87736715_T/C","10:87736715-87736715","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.028","-0.779459","-7","50","49","-41","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198900","10_87736874_A/G","10:87736874-87736874","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","rs965639802","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.395","-0.251890","41","2","27","-3","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198902","10_87741070_C/A","10:87741070-87741070","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.881","-0.087441","2","10","-14","-28","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198905","10_87741118_A/G","10:87741118-87741118","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","rs1224368015","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","4.890","0.352270","-38","4","25","-27","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198908","10_87741198_A/G","10:87741198-87741198","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","9/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","0.407","-0.245908","37","13","39","37","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198911","10_87741380_C/T","10:87741380-87741380","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","10/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","2.252","0.117526","36","-28","-28","-10","0.00","0.00","0.01","0.00","PAPSS2","-","-","-"
"198914","10_87741646_T/C","10:87741646-87741646","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","10/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.501","-0.203845","-15","47","28","-16","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198917","10_87742269_G/A","10:87742269-87742269","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","10/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.090","-0.557454","2","1","-3","19","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198920","10_87742272_C/T","10:87742272-87742272","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","10/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.329","-0.288742","50","-2","-19","16","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198923","10_87742581_T/C","10:87742581-87742581","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","10/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.572","-0.177198","4","26","39","-16","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198926","10_87742715_T/C","10:87742715-87742715","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","10/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.129","-0.482361","23","13","30","23","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198929","10_87742741_T/C","10:87742741-87742741","C","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","10/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","1.192","-0.024090","9","-3","-1","4","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198932","10_87742863_A/G","10:87742863-87742863","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","10/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","1.719","0.055158","-14","18","30","33","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198935","10_87742882_T/A","10:87742882-87742882","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","10/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.348","-0.277447","-48","-1","11","-2","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198938","10_87742901_C/T","10:87742901-87742901","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","10/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","1.271","-0.010471","20","-20","-8","25","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198941","10_87742950_G/A","10:87742950-87742950","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","10/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","2.857","0.176232","4","-10","-24","19","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198944","10_87743102_C/T","10:87743102-87743102","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","10/12","-","-","-","-","-","-","-","rs1480316509","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.879","-0.087724","31","-1","-38","2","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198947","10_87743224_A/G","10:87743224-87743224","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","10/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","1.467","0.020222","-7","19","5","8","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198950","10_87743647_C/T","10:87743647-87743647","T","splice_donor_region_variant,intron_variant","LOW","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","11/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","10.033","-1.329","8.703","C","2.348","0.127494","-16","-7","-6","-28","0.00","0.00","0.00","0.00","PAPSS2","-","2.40886065434894E-5","0.0"
"198953","10_87743690_G/A","10:87743690-87743690","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","11/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","0.529","-0.193055","36","-50","-49","15","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198956","10_87744266_T/A","10:87744266-87744266","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","11/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","0.664","-0.146522","24","-15","29","9","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198958","10_87744633_C/T","10:87744633-87744633","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","11/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.088","-0.562716","8","44","-38","8","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198960","10_87744997_T/C","10:87744997-87744997","C","splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant","LOW","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","11/12","-","-","-","-","-","-","-","COSV104419252","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","1","1","-","-","-","-","-","-","-","-","6.796","1.255","8.051","T","8.481","0.702833","-40","5","21","-18","0.02","0.00","0.00","0.00","PAPSS2","-","6.91434073701244E-4","0.028"
"198962","10_87745034_G/A","10:87745034-87745034","A","synonymous_variant","LOW","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","12/13","-","-","-","1628","1524","508","A","gcG/gcA","rs142268621,COSV100753716","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","uncertain_significance","0,1","1,1","-","-","-","-","-","-","-","-","-","-","-","G","5.525","0.408854","2","-26","1","-33","0.01","0.00","0.00","0.00","PAPSS2","-","-","-"
"198964","10_87745058_G/C","10:87745058-87745058","C","synonymous_variant","LOW","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","12/13","-","-","-","1652","1548","516","G","ggG/ggC","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","7.732","0.622814","3","14","3","44","0.08","0.00","0.00","0.00","PAPSS2","-","-","-"
"198966","10_87745367_C/T","10:87745367-87745367","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","12/12","-","-","-","-","-","-","-","rs1014073469","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.715","-0.130951","42","-48","0","3","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198968","10_87745397_A/G","10:87745397-87745397","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","12/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","3.697","0.249346","1","12","-1","2","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198970","10_87745583_C/T","10:87745583-87745583","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","12/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","0.098","-0.540386","-9","-24","-14","39","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198972","10_87745593_A/T","10:87745593-87745593","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","12/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","5.238","0.383061","-4","-34","-24","29","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198974","10_87745645_A/G","10:87745645-87745645","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","12/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","6.125","0.464101","-16","39","33","39","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198976","10_87745667_C/T","10:87745667-87745667","T","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","12/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","5.300","0.388625","17","-49","17","-5","0.08","0.00","0.00","0.00","PAPSS2","-","-","-"
"198978","10_87745715_G/A","10:87745715-87745715","A","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","12/12","-","-","-","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","G","2.515","0.144168","20","-31","-37","30","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
"198980","10_87745742_A/G","10:87745742-87745742","G","intron_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","-","12/12","-","-","-","-","-","-","-","rs905702179","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","4.066","0.280867","-49","-23","-1","3","0.00","0.00","0.01","0.00","PAPSS2","-","-","-"
"198982","10_87745865_A/T","10:87745865-87745865","T","synonymous_variant","LOW","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","13/13","-","-","-","1859","1755","585","R","cgA/cgT","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","A","1.259","-0.012458","-4","-33","-2","0","0.00","0.06","0.00","0.00","PAPSS2","-","-","-"
"198984","10_87746340_T/C","10:87746340-87746340","C","3_prime_UTR_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","13/13","-","-","-","2334","-","-","-","-","rs1589446436","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","T","4.202","0.292565","-17","24","25","-2","0.00","0.00","0.00","0.00","PAPSS2","-","-","-"
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"198989","10_87746663_C/A","10:87746663-87746663","A","3_prime_UTR_variant","MODIFIER","PAPSS2","ENSG00000198682","Transcript","ENST00000456849.2","protein_coding","13/13","-","-","-","2657","-","-","-","-","-","-","1","-","HGNC","HGNC:8604","NM_001015880.2","-","1","A1","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","-","C","1.004","-0.060036","18","-3","18","3","0.01","0.00","0.00","0.00","PAPSS2","-","-","-"
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