{"text_format":"3","workbook":"xls","n_sheets":2,"sheets":["Sheet1","D1-D3-DSD"],"not_rendered":{"external_links":1,"defined_names":1},"read":"whole","date_system":"1900","formulas":"cached_only"}

{"sheet":"Sheet1","index":0,"n_rows":0,"n_cols":0,"rows_kept":0,"flags":["formulas_cached_only"]}

{"sheet":"D1-D3-DSD","index":1,"n_rows":75,"n_cols":18,"rows_kept":75,"flags":["formulas_cached_only"]}
["Supplementary Table 2. Summary of CNVs and ROH Overlapping with DSD Genes "]
["Gene","Chrom Locus","CNV Size (Kb)","Gene Size (Kb)","n Px CNV ROH","total CNV ","CN State","LOSS","HI score (%) ","GAIN ","ROH","ROH Size (Mb)","ROH Probes (range)","Single CNV/Gene","CNV with Entire Gene","# Recurrent CNV","Same Exon/Intron","Non-Overlapping CNVs"]
[null,"Range","1.1 - 507","5-2220","1 - 32","1 - 55",null,"0 - 33","0.06 - 89.7","0 - 23","0 - 29","1-25.6","84-8,131"]
[null,"TOTAL",null,null,416,301,null,162,null,141,164]
["BBS9 (RP9)","7p14.3",30,476.5,1,1,3,0,17.3,1,0,"none","none","exon 1","none","none","none","none"]
["FGF7 (FAM2278)","15q21.1",139,64.1,4,1,1,1,1.3,0,3,"1-27","264-8,131","exons 3-4","none","none","none","none"]
["FGD1 (TSR2)","Xp11.22",507,50.7,4,1,1,1,18.2,0,3,"1-1.7","84-112","exons 13-18","none","none","none","none"]
["CAMK1D","10p13",6,480.2,1,1,1,1,21.2,0,0,"none","none","intron 1","none","none","none","none"]
["NOTCH2","1p11.2-p12",29,158.1,2,1,1,1,3.2,0,1,"1","118","intron 1","none","none","none","none"]
["POR","7q11.23",15,71.8,1,1,1,1,68.9,0,0,"none","none","intron 1","none","none","none","none"]
["SOS1","2p22.1-p22.3",18,138.9,5,1,1,1,4.03,0,4,"1-5","233-4,951","intron 1","none","none","none","none"]
["CREBBP","16p13.3",5,155.1,2,1,1,1,0.62,0,1,"1.1","231","intron 2","none","none","none","none"]
["GATA4","8p23.1",7,55.8,2,1,1,1,0.86,0,1,"1.3","276","intron 2","none","none","none","none"]
["HSD17B3","9q22.32-q22.33",7,66.8,4,1,4,0,73.6,1,3,"1.2","210-296","intron 2","none","none","none","none"]
["WNT2","7q31.2",6,46.7,5,1,1,1,6.1,0,4,"1-1.6","244-409","intron 3","none","none","none","none"]
["HHAT","1q32.2",3,348,2,1,1,1,44.4,0,1,"1.1","430","intron 7","none","none","none","none"]
["FRG1BP","20q11.21","121.4-345.2",22.1,8,2,3,0,"NA",2,6,"1-1.8","116-217","none","2 (D15, D18)","none","none","none"]
["ARX","Xp21.2",23,12.3,1,1,4,0,20.2,1,3,"1.1-1.2","172-284","none","1 (D44)","none","none","none"]
["GNRH1","8p21.2",64,5.8,1,1,3,0,8.2,1,0,"none","none","none","1 (D13)","none","none","none"]
["MTHFR","1p36.22",31,20.4,1,1,1,1,7.44,0,0,"none","none","none","1 (D15)","none","none","none"]
["NR5A1","9q33.3",18,26,1,1,1,1,5.31,0,0,"none","none","none","1 (D9)","none","none","none"]
["DMD","Xp21.2","1.1-17.4",2220.4,"20",55,"0, 1, 2, 3, 4",33,0.27,22,0,"none","none","none","none",4,12,3]
["WWOX","16q23.1","1.8-148.2",1113.2,22,27,"0, 1, 3, 4",21,0.38,6,0,"none","none","none","none",3,2,2]
["NOTCH3","19p13.12","2.4-27",41.3,8,8,"3, 4",0,24.86,8,0,"none","none","none","none",2,1,"none"]
["TP63","3q28","1.4-11.8",265.9,12,13,"1, 3, 4",7,1.11,6,0,"none","none","none","none",2,2,1]
["ESR2","14q23.2","1.5-12.8",111.5,10,13,"3, 4, 1",6,2.04,7,0,"none","none","none","none",2,3,2]
["SRD5A2","2p23.1",6.9,56.4,11,2,"1, 3",1,"unknown",1,9,"1-1.4","110-286","none",1,1,"none","none"]
["AXIN1","16p13.3","2.1-12.7",65.2,5,5,1,5,4.55,0,0,"none","none","none","none",1,1,1]
["KRAS","12p12.1","4.2-12.2",45.7,5,4,3,0,0.47,4,1,"4.1","1,542","none","none",1,1,"none"]
["TGFB1","19q13.2",4.015,23,2,2,4,0,0.12,2,0,"none","none","none","none",1,"none","none"]
["EP300","22q13.2","3.1-3.6 ",87.5,15,3,"4, 1",1,0.67,2,12,"1.2-2.8","201-490","none","none",1,1,"none"]
["CTNNB1","3p22.1","9.6-19.1 ",41,5,5,"3, 4",0,0.18,5,0,"none","none","none","none",1,1,1]
["PTPN11","12q24.13","16.4-37",91.2,32,6,"3, 1",1,1.58,5,28,"1.1-5.4","128-1,146","none","none",1,"none",1]
["PDGFRA","4q12","2.9-18.8",69.4,4,4,3,0,7.55,4,0,"none","none","none","none",1,1,"none"]
["MOV10L1","22q13.33","4.6-10",71.7,6,6,1,6,81.65,0,0,"none","none","none","none",1,1,"none"]
["FRAS1 ","4q21.21",11.5,486.7,5,4,1,4,41.67,0,1,"1.3","322","none","none",1,"none","none"]
["BNC2","9p22.2","1.9-3.7",461.3,4,4,"4, 1",3,0.66,1,0,"none","none","none","none",1,1,1]
["NLGN4X","Xp22.32","1.5-4.8",338.6,8,9,"0, 1, 2, 4",4,64.4,5,0,"none","none","none","none",1,2,"none"]
["NOTCH1","9q34.3",4.371,51.3,7,3,0,3,0.16,0,4,"1.4-4.4","98-1,016","none","none",1,"none","none"]
["PBX1","1q23.3","1.2-7.1",292.5,5,5,4,0,0.86,5,0,"none","none","none","none",1,1,"none"]
["DHRSX","Xp22.33","1.1-48.8",281.5,14,15,"1, 3, 4",11,89.65,4,0,"none","none","none","none",1,3,"none"]
["PCDH17","13q21.1",6.653,97.3,11,2,1,2,8.35,0,9,"1.2-3.3","211-899","none","none",1,"none","none"]
["AHRR","5p15.33","8.8-19.8",134.1,6,4,1,4,87,0,2,"1.1-7.8","192-2,630","none","none",1,1,"none"]
["PIP5K1B","9q21.11","1.7-4.1",303.8,5,4,"4, 1",1,18.62,3,1,"1.1","331","none","none",1,"none",2]
["OCA2","15q13.1","2.4-29.3 ",344.4,24,5,"4, 3",0,62.33,5,19,"1-1.6","89-328","none","none",1,"none",2]
["SOX9","17q24.3","1.6-6",5.4,4,4,1,4,0.55,0,0,"none","none","none","none",1,"none",1]
["CXCL12","10q11.21","6.9-8.1",14.941,3,2,"3, 4",0,2.08,2,1,"1.3","369","none","none","none",2,"none"]
["SHOX","Xp22.33","41.5-41.7",35.1,3,3,"4, 3, 1",1,76.05,2,0,"none","none","none",1,"none",1,"none"]
["GFRA1","10q25.3","18.3-22",216.7,5,2,3,0,2.66,2,3,"1.2-1.9","260-469","none","none","none",1,"none"]
["FLNA","Xq28","10.7-22.9",26.1,8,3,"3, 2",0,8.04,3,4,"1.8-2.2","128-235","none","none","none",1,"none"]
["AR","Xq12","8.4-190.5",186.6,9,2,"1, 2",1,0.35,1,6,"2.3-12.6","311-1,261","none","none","none",1,"none"]
["FAM167A-AS1 (C8orf12)","8p23.1","15.9-19.2",70.3,2,2,1,2,68.25,0,0,"none","none","none","none","none",1,"none"]
["RAF1","3p25.2","3.9-13.6",80.6,2,3,"1, 4",1,14.17,2,0,"none","none","none","none","none",1,1]
["INSR","19p13.2","7-29.1",181.746,"2",2,1,2,1.43,0,0,"none","none","none","none","none",1,1]
["PTCH1","9p22.32","3.7-16.4",65.6,8,6,"4, 3",0,0.48,6,4,null,null,"none","none","none",1,3]
["SNRPN","15q11.2","14.8-36.5",154.9,2,2,3,0,73,2,0,"none","none","none","none","none",1,"none"]
["SUPT3H (RUNX2)","6p21.1","9.8-10",551.3,7,2,"0, 1",2,4.33,0,4,"1-2","269-649","none","none","none",1,"none"]
["KANK1 ","9p24.3","4.1-32.1",241.1,6,5,"1, 3, 4",1,49.74,4,1,"4.2","2,302","none","none","none",1,2]
["CTNNA3","10q21.3","6.6-92.2",1776.2,14,7,"3, 4, 1",4,2.58,3,7,"1-2.3","210-670","none","none","none",1,5]
["NR5A2","1q32.1","1.1-4.5",149.8,4,3,1,3,11.82,0,2,"1.1","296-447","none","none","none",1,1]
["ESR1","6q25.1","25-28",296,3,2,"1, 3",1,0.06,1,1,"1","373","none","none","none",1,"none"]
["ATRX","Xq21.2","2.2-5.2",281.4,10,3,"2, 3",0,6.65,3,7,"1.2-6.5","72-626","none",1,"none",1,"none"]
["GRIP1 ","12q14.3","8.4-23.9",331.7,4,3,"1, 4",2,18.89,1,1,"7","2,593","none","none","none","none",3]
["CNTNAP3","9p13.1","95.7-374.0",215.5,4,3,3,0,87.16,3,1,"1.6","90","none",1,"none","none",2]
["VAMP7","Xq28","1.5-94 ",62.5,6,2,1,2,56.22,0,4,"1-2.2","138-235","none","none","none","none",2]
["FGFR2","10q26.13","4-6",120.1,2,2,"1, 4",1,0.5,1,0,"none","none","none","none","none","none",2]
["FLT1","13q12.2 ","2.4-11.4",194.8,1,2,1,2,3.5,0,0,"none","none","none","none","none","none",2]
["ROCK2","2p25.1","28.1-42.2",163,2,2,1,2,11.31,0,0,"none","none","none","none","none","none",2]
["CHD7","8q12.2","2-11.4",189.3,4,2,"1, 4",1,2.39,1,2,"1.5-25.6","416-6,223","none","none","none","none",2]
["NR0B1","Xp21.2","4.9-5.6",5,3,3,2,0,15.44,3,0,"none","none","none",2,"none","none",1]
["PCSK1","5q15",24.8,42.5,2,2,1,2,12.59,0,0,"none","none","none",1,"none","none",1]
["ANOS1 (KAL1)","Xp22.31",7,203.3,2,2,"1, 2",1,60.5,1,0,"none","none","none",1,"none","none",1]
["CNV accounting: n of a specific CNV type; exon/intron #; n Px (n patients)"]
["details for recurrent and overlapping CNVs are found in Table 1"]
["entries highlighted in gray color - genes below 50 Kb; likely haploinsufficient (HI) genes;  highest CNV frequencies; likely HI CN losses"]