chr start end ref alt dbSNP_id X1000genomes_id gene c_type 1 6694119 6694119 C T unknown unknown THAP3 nonsynonymous SNV 1 22062956 22062956 C T unknown unknown USP48 nonsynonymous SNV 1 36552585 36552585 C T unknown unknown TEKT2 nonsynonymous SNV 1 47395917 47395917 C T unknown unknown CYP4A11 nonsynonymous SNV 1 57378149 57378149 G A unknown unknown C8A nonsynonymous SNV 1 79403593 79403593 G A unknown unknown ELTD1 nonsynonymous SNV 1 209800230 209800230 C T unknown 0.249 LAMB3 nonsynonymous SNV 1 209807815 209807815 T C unknown 0.071 LAMB3 nonsynonymous SNV 3 3887508 3887508 C G unknown 0.010 LRRN1 nonsynonymous SNV 3 50225255 50225255 G A unknown unknown SEMA3F nonsynonymous SNV 3 160804167 160804167 C T unknown 0.030 B3GALNT1 nonsynonymous SNV 4 122765152 122765152 T C unknown unknown BBS7 nonsynonymous SNV 5 180432662 180432662 C G unknown 0.095 BTNL3 nonsynonymous SNV 6 90503818 90503818 C T unknown unknown MDN1 splicing 7 3681647 3681647 C G unknown unknown SDK1 nonsynonymous SNV 7 51095951 51095951 C A unknown unknown COBL nonsynonymous SNV 9 33385808 33385808 G T unknown 0.261 AQP7 nonsynonymous SNV 9 139889162 139889162 C A unknown 0.009 CLIC3 nonsynonymous SNV 9 140327663 140327663 C T unknown 0.223 NOXA1 nonsynonymous SNV 10 93999956 93999956 C T unknown unknown CPEB3 nonsynonymous SNV 11 2167572 2167572 G A unknown unknown IGF2AS,INS-IGF2 ncRNA 11 58317528 58317528 C T unknown unknown LPXN nonsynonymous SNV 11 126147697 126147697 G A unknown 0.136 FOXRED1 ncRNA 14 104559922 104559922 C G unknown 0.394 ASPG nonsynonymous SNV 15 79224727 79224727 T C unknown 0.008 CTSH nonsynonymous SNV 19 44103210 44103210 A G unknown unknown ZNF576 nonsynonymous SNV 19 49962986 49962986 C G unknown 0.003 ALDH16A1 nonsynonymous SNV 20 40864875 40864875 T C unknown unknown PTPRT nonsynonymous SNV 20 47887812 47887812 C T unknown unknown ZNFX1 nonsynonymous SNV 21 30439335 30439335 C T unknown unknown CCT8 nonsynonymous SNV 22 43610207 43610207 A G unknown 0.421 SCUBE1 nonsynonymous SNV 22 45943051 45943051 C T unknown unknown FBLN1 stopgain SNV 22 51015838 51015838 T C unknown 0.129 CPT1B nonsynonymous SNV X 84586003 84586003 G A unknown 0.0041 POF1B nonsynonymous SNV