"Family type: 1 - singleton, 2 - two exomes available, 3 - trio structure, 4 - quart structure" Family number Family type Total number of recessive candidates # overlapped from recessive candidates Ratio Total number of de novo candidates # overlapped from de novo candidates Ratio 1 4 13 3 0.230769231 170 4 0.023529412 2 4 9 2 0.222222222 33 1 0.03030303 3 3 17 2 0.117647059 96 7 0.072916667 4 3 23 4 0.173913043 45 2 0.044444444 5 4 25 7 0.28 NA NA 0 6 3 16 1 0.0625 72 2 0.027777778 7 3 21 4 0.19047619 63 2 0.031746032 8 3 81 19 0.234567901 359 14 0.038997214 9 3 35 4 0.114285714 126 3 0.023809524 10 3 22 3 0.136363636 46 2 0.043478261 11 2 63 4 0.063492063 155 4 0.025806452 12 3 41 3 0.073170732 146 5 0.034246575 13 1 39 2 0.051282051 110 6 0.054545455 14 3 61 9 0.147540984 101 5 0.04950495 15 1 71 10 0.14084507 243 9 0.037037037 16 2 73 5 0.068493151 NA NA 0 17 3 39 4 0.102564103 67 1 0.014925373 18 3 45 2 0.044444444 79 2 0.025316456 19 1 78 6 0.076923077 99 9 0.090909091 20 3 45 1 0.022222222 27 1 0.037037037 21 3 51 5 0.098039216 29 2 0.068965517 22 4 6 0 0 6 0 0 23 3 38 1 0.026315789 41 1 0.024390244 24 1 55 2 0.036363636 69 3 0.043478261 25 2 15 3 0.2 179 6 0.033519553 26 3 30 4 0.133333333 60 1 0.016666667 27 2 39 5 0.128205128 138 5 0.036231884 28 4 28 2 0.071428571 NA NA 0 29 2 43 4 0.093023256 185 7 0.037837838 30 3 33 2 0.060606061 41 3 0.073170732 31 3 29 2 0.068965517 49 1 0.020408163 32 3 39 3 0.076923077 58 4 0.068965517 33 2 69 1 0.014492754 99 6 0.060606061 34 3 21 0 0 32 2 0.0625 35 4 61 0 0 NA NA 0 36 1 81 3 0.037037037 21 1 0.047619048 37 1 44 4 0.090909091 39 0 0 38 4 19 0 0 37 2 0.054054054 39 3 16 2 0.125 12 0 0 40 4 22 3 0.136363636 28 2 0.071428571 41 2 66 5 0.075757576 NA NA 0 42 3 19 0 0 30 3 0.1 43 4 12 0 0 54 1 0.018518519 44 1 56 2 0.035714286 388 14 0.036082474 45 3 17 1 0.058823529 13 0 0 46 1 88 4 0.045454545 255 17 0.066666667 47 2 63 2 0.031746032 155 2 0.012903226 48 3 49 2 0.040816327 183 5 0.027322404 49 2 75 1 0.013333333 89 3 0.033707865 50 2 67 2 0.029850746 131 2 0.015267176 51 2 74 1 0.013513514 139 7 0.050359712 52 3 8 1 0.125 95 1 0.010526316 53 1 79 9 0.113924051 90 1 0.011111111 Note: 1. These numbers represent variants whose majority have not been Sanger-validated "2. In some families, variants were limited to only specific genes of interest" "3. The exome/whole-genome coverage, capture kit used, software version and databases used to filter the variants change over time"