Normal Chrom Pos Ref Alt Gene Transcript RNA CDS Protein Effect DIS_sample_PD9777b_depth DIS_MtAll_PD9777b DIS_MtAllPct_PD9777b DIS_sample_PD9777a_depth DIS_MtAll_PD9777a DIS_MtAllPct_PD9777a DIS_sample_PD9777c_depth DIS_MtAll_PD9777c DIS_MtAllPct_PD9777c DIS_sample_PD9777d_depth DIS_MtAll_PD9777d DIS_MtAllPct_PD9777d VAL_sample_PD9777b_depth VAL_MtAll_PD9777b VAL_MtAllPct_PD9777b VAL_sample_WGA_PD9777a_depth VAL_MtAll_WGA_PD9777a VAL_MtAllPct_WGA_PD9777a VAL_sample_WGA_PD9777c_depth VAL_MtAll_WGA_PD9777c VAL_MtAllPct_WGA_PD9777c VAL_pbinom_WGA_PD9777c VAL_sample_WGA_PD9777d_depth VAL_MtAll_WGA_PD9777d VAL_MtAllPct_WGA_PD9777d in.discovery in.validation mutation.copy.number.a subclonal.fraction.a no.chrs.bearing.mut.a mutation.copy.number.c subclonal.fraction.c no.chrs.bearing.mut.c mutation.copy.number.d subclonal.fraction.d no.chrs.bearing.mut.d val.mutation.copy.number.a val.subclonal.fraction.a val.no.chrs.bearing.mut.a val.mutation.copy.number.c val.subclonal.fraction.c val.no.chrs.bearing.mut.c val.mutation.copy.number.d val.subclonal.fraction.d val.no.chrs.bearing.mut.d discovery.DP.cluster validation.DP.cluster pbinom_dis_b pbinom_val_b pbinom_dis_a pbinom_val_a pbinom_dis_c pbinom_val_c pbinom_dis_d pbinom_val_d VAL_LOCUS val_status_a val_status_c val_status_d current.conf.status val.platform PD9777b 1 2458712 C G PANK4 CCDS42.1 r.? - - upstream 37 0 0 28 3 10.7 1 0 0 70 16 22.9 153 0 0 3 0 0 0 0 NA 1 1 1 100 FALSE FALSE 0.786764706 0.786764706 1 0 NA 0 0.721259843 0.721259843 1 0 0 1 NA NA 0 3.149606299 3.149606299 1 NA NA 1 1 0.000372895 1 1 1 2.93E-22 0.005 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 7033696 A C CAMTA1 CCDS30576.1 r.? - - intronic 39 0 0 40 8 20 16 4 25 59 16 27.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 1.432195327 1.432195327 1 0.853543307 0.853543307 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.61E-11 1 0.00000108 1 1.37E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 8126097 G A - - - - - - 24 0 0 38 8 21.1 22 3 13.6 56 19 33.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.551470588 1.551470588 1 0.779114258 0.779114258 1 1.067716535 1.067716535 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.67E-11 1 0.000179267 1 6.79E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 8202148 G T - - - - - - 33 0 0 38 6 15.8 25 5 20 77 26 33.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.161764706 1.161764706 1 1.145756261 1.145756261 1 1.064566929 1.064566929 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.76E-08 1 0.000000153 1 2.7E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 9065236 G A SLC2A7 CCDS98.2 r.? - - intronic 34 1 2.9 50 12 24 8 2 25 55 15 27.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.764705882 1.764705882 1 1.432195327 1.432195327 1 0.85984252 0.85984252 1 NA NA 1 NA NA 0 NA NA 1 9 NA 0.156694864 1 2.49E-17 1 0.000686131 1 3.01E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 11382412 C T - - - - - - 29 0 0 27 5 18.5 6 2 33.3 48 14 29.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.360294118 1.360294118 1 1.907684175 1.907684175 1 0.919685039 0.919685039 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000023 1 0.000370028 1 2.51E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 15257790 A G ENSG00000189337 CCDS152.2 r.? - - intronic 28 0 0 32 6 18.8 14 1 7.1 64 21 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.382352941 1.382352941 1 0.406743473 NA 0 1.033070866 1.033070866 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1.27E-08 1 0.067769881 1 1.6E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 15487916 G C TMEM51 CCDS154.1 r.? - - intronic 35 0 0 33 7 21.2 18 4 22.2 51 12 23.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.558823529 1.558823529 1 1.27178945 1.27178945 1 0.74015748 0.74015748 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.98E-10 1 0.00000181 1 3.24E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 19028758 G A PAX7 CCDS44074.1 r.? - - intronic 32 0 0 34 7 20.6 6 0 0 54 15 27.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.514705882 1.514705882 1 0 NA 0 0.875590551 0.875590551 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 3.73E-10 1 1 1 2.2E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 19836617 A T - - - - - - 35 0 0 31 3 9.7 30 6 20 64 19 29.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.713235294 0.713235294 1 1.145756261 1.145756261 1 0.935433071 0.935433071 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000505952 1 8.37E-09 1 1.34E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 20302343 T G PLA2G2A CCDS201.1 r.565-7a>c c.293-7A>C p.? splice region 31 0 0 24 4 16.7 32 3 9.4 68 20 29.4 108 0 0 161 16 9.9 266 25 9.4 8.25E-17 273 71 26 TRUE TRUE 1.227941176 1.227941176 1 0.538505443 0.538505443 1 0.925984252 0.925984252 1 0.727941176 0.727941176 1 0.538505443 0.538505443 1 0.818897638 0.818897638 1 9 11 1 1 0.00000613 3.47E-16 0.000556213 7.87E-24 6.23E-30 7.68E-98 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 1 23214797 G A EPHB2 CCDS230.1 r.? - - intronic 36 0 0 38 10 26.3 27 5 18.5 54 17 31.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.933823529 1.933823529 1 1.059824542 1.059824542 1 0.992125984 0.992125984 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 4.06E-15 1 0.00000023 1 3.02E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 24352770 T A - - - - - - 30 0 0 32 3 9.4 27 4 14.8 63 25 39.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.691176471 0.691176471 1 0.847859633 0.847859633 1 1.250393701 1.250393701 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000556213 1 0.00001 1 6.06E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 26023346 C T MAN1C1 CCDS265.1 r.? - - intronic 31 0 0 34 5 14.7 32 0 0 61 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.080882353 1.080882353 1 0 NA 0 0 0 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.000000771 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 32455746 G A - - - - - - 24 0 0 41 6 14.6 41 9 22 59 21 35.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.073529412 1.073529412 1 1.260331887 1.260331887 1 1.121259843 1.121259843 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 6.05E-08 1 5.92E-13 1 2.06E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 34801551 G A - - - - - - 33 0 0 30 4 13.3 24 5 20.8 61 20 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.977941176 0.977941176 1 1.191586512 1.191586512 1 1.033070866 1.033070866 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000154 1 0.000000123 1 4.89E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 35080030 C A - - - - - - 29 0 0 44 8 18.2 32 6 18.8 82 23 28 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.338235294 1.338235294 1 1.077010886 1.077010886 1 0.881889764 0.881889764 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 5.9E-11 1 1.27E-08 1 1.19E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 35596050 G C - - - - - - 29 0 0 45 5 11.1 39 3 7.7 62 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.441116161 0.441116161 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 7 NA 1 1 0.00000323 1 0.000998458 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 43925848 G C - - - - - - 24 0 0 26 4 15.4 31 1 3.2 69 19 27.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.132352941 1.132352941 1 0.183321002 NA 0 0.866141732 0.866141732 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.00000856 1 0.143917729 1 6.95E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 45272367 T G PLK3 CCDS515.1 r.? - - downstream 24 0 0 22 4 18.2 9 0 0 47 15 31.9 163 0 0 6 0 0 16 2 12.5 0.010932892 9 4 44.4 FALSE TRUE 1.338235294 1.338235294 1 0 NA 0 1.004724409 1.004724409 1 0 0 1 0.716097663 0.716097663 1 1.398425197 1.398425197 1 NA 11 1 1 0.00000425 1 1 0.002863359 1.97E-23 7.72E-08 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 47567921 C T CYP4Z1 CCDS545.1 r.? - - intronic 34 0 0 35 5 14.3 42 4 9.5 72 13 18.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 0.544234224 0.544234224 1 0.75107874 0.75107874 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.000000895 1 0.0000601 1 6.58E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 48007962 T C - - - - - - 29 0 0 39 5 12.8 35 6 17.1 82 18 22 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.941176471 0.941176471 1 0.979621603 0.979621603 1 0.912913386 0.912913386 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.00000156 1 2.24E-08 1 1.65E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 49323866 G A AGBL4 CCDS44137.1 r.? - - intronic 36 0 0 33 4 12.1 43 4 9.3 62 17 27.4 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 0.532776661 0.532776661 1 0.862992126 0.862992126 1 NA NA 1 0 NA 0 NA NA 1 9 NA 1 1 0.0000228 1 0.000066 1 4.56E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 49540639 A G AGBL4 CCDS44137.1 r.? - - intronic 24 0 0 31 6 19.4 45 3 6.7 64 20 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.426470588 1.426470588 1 0.383828348 0.46295902 0.829076291 0.982677165 0.982677165 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.03E-08 1 0.001516071 1 1.52E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 49699633 G T AGBL4 CCDS44137.1 r.? - - intronic 39 0 0 32 4 12.5 47 0 0 64 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.919117647 0.919117647 1 0 NA 0 0 0 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.0000201 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 52960544 G A ZCCHC11 CCDS30716.1 r.? - - intronic 40 0 0 33 4 12.1 37 9 24.3 67 20 29.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 1.392093857 1.392093857 1 0.941732283 0.941732283 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000228 1 2.14E-13 1 4.42E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 53248455 A G ZYG11B CCDS30717.1 r.? - - intronic 26 0 0 43 4 9.3 24 2 8.3 64 17 26.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.683823529 0.683823529 1 0.475488848 0.475488848 1 0.837795276 0.837795276 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000066 1 0.006413403 1 8.43E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 53319596 T A ZYG11A CCDS44148.1 r.? - - intronic 32 0 0 38 6 15.8 38 8 21.1 72 23 31.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.161764706 1.161764706 1 1.208772856 1.208772856 1 1.004724409 1.004724409 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.76E-08 1 1.67E-11 1 3.67E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 53511667 G T SCP2 CCDS572.1 r.? - - intronic 36 0 0 37 6 16.2 33 4 12.1 64 23 35.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.191176471 1.191176471 1 0.693182538 0.693182538 1 1.130708661 1.130708661 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.18E-08 1 0.0000228 1 1.44E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 54419347 A T LRRC42 CCDS585.1 r.? - - intronic 30 0 0 35 5 14.3 15 2 13.3 69 28 40.6 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 0.761927914 0.761927914 1 1.278740157 1.278740157 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000895 1 0.002513772 1 5.13E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 54615506 A T CDCP2 CCDS588.2 r.? - - intronic 35 0 0 29 5 17.2 19 0 0 68 23 33.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.264705882 1.264705882 1 0 NA 0 1.064566929 1.064566929 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.000000336 1 1 1 7.7E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 56015230 C T - - - - - - 24 0 0 36 7 19.4 42 5 11.9 64 16 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.426470588 1.426470588 1 0.681724975 0.681724975 1 0.787401575 0.787401575 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 5.74E-10 1 0.00000228 1 5.94E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 56676345 G C - - - - - - 25 0 0 33 7 21.2 39 6 15.4 72 22 30.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.558823529 1.558823529 1 0.882232321 0.882232321 1 0.963779528 0.963779528 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.98E-10 1 4.43E-08 1 3.36E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 56961833 C T PPAP2B CCDS604.1 r.1878g>a c.? p.? 3'UTR variant 31 0 0 40 7 17.5 43 7 16.3 73 17 23.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.286764706 1.286764706 1 0.933791353 0.933791353 1 0.733858268 0.733858268 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.26E-09 1 2.15E-09 1 1.03E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 57590059 C T DAB1 CCDS607.1 r.? - - intronic 37 0 0 41 4 9.8 36 5 13.9 64 24 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.720588235 0.720588235 1 0.796300602 0.796300602 1 1.181102362 1.181102362 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000546 1 0.00000104 1 1.23E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 58056703 C T DAB1 CCDS607.1 r.? - - intronic 30 0 0 34 8 23.5 25 3 12 64 14 21.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.727941176 1.727941176 1 0.687453757 0.687453757 1 0.68976378 0.68976378 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 6.32E-12 1 0.00026475 1 2.31E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 59404087 T C - - - - - - 32 0 0 35 6 17.1 31 5 16.1 54 20 37 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.257352941 1.257352941 1 0.92233379 0.92233379 1 1.165354331 1.165354331 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.24E-08 1 0.000000476 1 2.61E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 62312748 A G INADL CCDS617.2 r.? - - intronic 27 0 0 34 5 14.7 31 2 6.5 51 12 23.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.080882353 1.080882353 1 0.372370785 0.372370785 1 0.74015748 0.74015748 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000771 1 0.010558179 1 3.24E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 63048937 A G DOCK7 CCDS30734.1 r.? - - intronic 24 0 0 40 6 15 26 5 19.2 61 15 24.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.102941176 1.102941176 1 1.099926011 1.099926011 1 0.77480315 0.77480315 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 5.18E-08 1 0.000000188 1 1.73E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 66063946 C G LEPR CCDS631.1 r.? - - intronic 27 0 0 29 4 13.8 24 1 4.2 54 15 27.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.014705882 1.014705882 1 0.240608815 NA 0 0.875590551 0.875590551 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.0000134 1 0.113346489 1 2.2E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 67464033 G A SLC35D1 CCDS636.1 r.? - - downstream 30 0 0 30 5 16.7 26 6 23.1 60 18 30 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 1.323348482 1.323348482 1 0.94488189 0.94488189 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000401 1 3.3E-09 1 2.89E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 67680804 C T IL23R CCDS637.1 r.? - - intronic 34 0 0 33 5 15.2 19 3 15.8 63 14 22.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.117647059 1.117647059 1 0.905147446 0.905147446 1 0.699212598 0.699212598 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000066 1 0.000114071 1 1.81E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 68534256 T A - - - - - - 34 0 0 34 5 14.7 32 3 9.4 45 17 37.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.080882353 1.080882353 1 0.538505443 0.538505443 1 1.190551181 1.190551181 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000771 1 0.000556213 1 7.37E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 69265713 C T - - - - - - 35 0 0 43 6 14 35 5 14.3 52 12 23.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.029411765 1.029411765 1 0.819215727 0.819215727 1 0.727559055 0.727559055 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 8.13E-08 1 0.000000895 1 4.19E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 69275840 C A - - - - - - 29 0 0 32 6 18.8 26 7 26.9 54 21 38.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.382352941 1.382352941 1 1.541042171 1.541042171 1 1.22519685 1.22519685 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.27E-08 1 4.73E-11 1 2.12E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 70487127 G A LRRC7 CCDS645.1 r.? - - intronic 27 0 0 40 8 20 38 10 26.3 59 14 23.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 1.506669484 1.506669484 1 0.746456693 0.746456693 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.61E-11 1 4.06E-15 1 6.58E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 75740187 G A SLC44A5 CCDS667.1 r.? - - intronic 35 0 0 43 5 11.6 29 11 37.9 57 23 40.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.852941176 0.852941176 1 2.171208115 2.171208115 1 1.272440945 1.272440945 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000257 1 1.56E-18 1 5.38E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 78510693 G C GIPC2 CCDS685.1 r.? - - upstream 28 0 0 42 6 14.3 23 4 17.4 71 17 23.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 0.996807947 0.996807947 1 0.752755906 0.752755906 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 7.02E-08 1 0.00000513 1 6.12E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 78920575 G T PTGFR CCDS686.1 r.? - - intronic 36 0 0 26 5 19.2 33 5 15.2 55 13 23.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.411764706 1.411764706 1 0.870774759 0.870774759 1 0.743307087 0.743307087 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000188 1 0.00000066 1 1.46E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 80661111 A G - - - - - - 38 0 0 22 7 31.8 35 7 20 57 17 29.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.338235294 2.338235294 1 1.145756261 1.145756261 1 0.938582677 0.938582677 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.25E-11 1 4.65E-10 1 8.82E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 80707117 C A - - - - - - 32 0 0 36 4 11.1 41 3 7.3 68 21 30.9 1 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.418201035 0.418201035 1 0.973228346 0.973228346 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000324 1 0.001155993 1 7.15E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 81224350 C G - - - - - - 34 0 0 27 4 14.8 29 2 6.9 66 20 30.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.088235294 1.088235294 1 0.39528591 0.39528591 1 0.954330709 0.954330709 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00001 1 0.009279585 1 3.11E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 81394403 C A - - - - - - 30 0 0 23 7 30.4 23 7 30.4 66 23 34.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.235294118 2.235294118 1 1.741549517 1.741549517 1 1.096062992 1.096062992 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.79E-11 1 1.79E-11 1 3.38E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 82847208 G T - - - - - - 31 0 0 19 4 21.1 36 5 13.9 62 24 38.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.551470588 1.551470588 1 0.796300602 0.796300602 1 1.218897638 1.218897638 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000228 1 0.00000104 1 4.81E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 83464520 G A - - - - - - 33 0 0 30 4 13.3 42 9 21.4 56 19 33.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.977941176 0.977941176 1 1.2259592 1.2259592 1 1.067716535 1.067716535 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000154 1 7.51E-13 1 6.79E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 84202841 G A - - - - - - 26 0 0 39 4 10.3 29 0 0 60 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.757352941 0.757352941 1 0 NA 0 0 0 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.0000447 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 84315836 T G - - - - - - 28 0 0 37 4 10.8 20 1 5 43 9 20.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.794117647 0.794117647 1 0.286439065 NA 0 0.658267717 0.658267717 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.0000362 1 0.09538952 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 84820857 G C SAMD13 CCDS30760.1 r.? - - downstream 29 0 0 43 5 11.6 31 4 12.9 49 16 32.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.852941176 0.852941176 1 0.739012788 0.739012788 1 1.02992126 1.02992126 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000257 1 0.0000177 1 4.37E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 88886665 G A - - - - - - 25 0 0 34 6 17.6 39 6 15.4 53 21 39.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.294117647 1.294117647 1 0.882232321 0.882232321 1 1.247244094 1.247244094 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.86E-08 1 4.43E-08 1 1.3E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 89223168 T A PKN2 CCDS714.1 r.? - - intronic 31 0 0 38 6 15.8 28 3 10.7 59 21 35.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.161764706 1.161764706 1 0.6129796 0.6129796 1 1.121259843 1.121259843 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.76E-08 1 0.000372895 1 2.06E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 93408614 T G FAM69A CCDS44173.1 r.? - - intronic 32 0 0 33 6 18.2 17 1 5.9 80 24 30 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.338235294 1.338235294 1 0.337998097 NA 0 0.94488189 0.94488189 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1.54E-08 1 0.081683532 1 7.39E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 94925732 G C ABCD3 CCDS749.1 r.? - - intronic 35 0 0 25 3 12 42 7 16.7 71 19 26.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.882352941 0.882352941 1 0.956706478 0.956706478 1 0.844094488 0.844094488 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00026475 1 1.81E-09 1 1.29E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 94952710 C T ABCD3 CCDS749.1 r.? - - intronic 27 0 0 34 5 14.7 39 3 7.7 53 0 0 185 0 0 395 21 5.3 414 37 8.9 2.35E-23 437 2 0.5 TRUE TRUE 1.080882353 1.080882353 1 0.441116161 0.441116161 1 0 0 1 0.389705882 0.389705882 1 0.509861536 0.509861536 1 0.015748031 0.015748031 1 7 7 1 1 0.000000771 3.08E-15 0.000998458 1.08E-33 1 0.642488246 YES 1_1 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 1 99244239 C T - - - - - - 35 1 2.9 30 9 30 28 2 7.1 59 7 11.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.205882353 2.205882353 1 0.406743473 0.406743473 1 0.37480315 0.37480315 1 NA NA 1 NA NA 0 NA NA 1 9 NA 0.16091139 1 2.54E-14 1 0.008668191 1 2.12E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 102199819 G C - - - - - - 30 0 0 20 4 20 30 3 10 51 16 31.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 0.572878131 0.572878131 1 0.988976378 0.988976378 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000284 1 0.000458697 1 9.28E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 102575739 C T - - - - - - 48 0 0 33 7 21.2 13 1 7.7 64 23 35.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.558823529 1.558823529 1 0.441116161 0.441116161 1 1.130708661 1.130708661 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.98E-10 1 0.063085307 1 1.44E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 102723437 C A - - - - - - 31 0 0 40 11 27.5 35 6 17.1 68 20 29.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.022058824 2.022058824 1 0.979621603 0.979621603 1 0.925984252 0.925984252 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 9.88E-17 1 2.24E-08 1 6.23E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 103111560 G A - - - - - - 35 0 0 35 4 11.4 28 3 10.7 51 20 39.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838235294 0.838235294 1 0.6129796 0.6129796 1 1.234645669 1.234645669 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000289 1 0.000372895 1 6.38E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 1455778 T G ATAD3A CCDS31.1 r.? - - intronic 31 0 0 17 0 0 0 0 NA 43 6 14 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 NA NA 0 0.440944882 0.440944882 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 104872829 C T - - - - - - 25 0 0 31 6 19.4 29 6 20.7 52 13 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.426470588 1.426470588 1 1.18585773 1.18585773 1 0.787401575 0.787401575 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.03E-08 1 6.72E-09 1 6.47E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 105881622 G T - - - - - - 29 0 0 31 7 22.6 39 3 7.7 63 12 19 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.661764706 1.661764706 1 0.441116161 0.441116161 1 0.598425197 0.598425197 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.85E-10 1 0.000998458 1 5.15E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 106577731 C T - - - - - - 39 0 0 33 4 12.1 41 8 19.5 64 16 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 1.117112355 1.117112355 1 0.787401575 0.787401575 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000228 1 3.22E-11 1 5.94E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 109048528 G A - - - - - - 23 0 0 33 6 18.2 29 3 10.3 55 27 49.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.338235294 1.338235294 1 0.590064475 0.590064475 1 1.546456693 1.546456693 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.54E-08 1 0.000414371 1 2.49E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 110380697 G C - - - - - - 33 0 0 42 6 14.3 44 7 15.9 62 20 32.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 0.910876228 0.910876228 1 1.017322835 1.017322835 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 7.02E-08 1 2.55E-09 1 7.19E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 110514830 C A - - - - - - 28 0 0 28 4 14.3 38 3 7.9 70 20 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 0.452573723 0.452573723 1 0.900787402 0.900787402 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000116 1 0.000925091 1 1.22E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 111435980 T A CD53 CCDS829.1 r.? - - intronic 21 0 0 32 5 15.6 28 6 21.4 58 22 37.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.147058824 1.147058824 1 1.2259592 1.2259592 1 1.193700787 1.193700787 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000562 1 5.36E-09 1 1.13E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 113644018 A G LRIG2 CCDS30808.1 r.? - - intronic 30 0 0 42 7 16.7 29 2 6.9 63 20 31.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 0.39528591 0.39528591 1 0.998425197 0.998425197 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.81E-09 1 0.009279585 1 1.05E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 118905662 C T - - - - - - 37 0 0 41 7 17.1 41 6 14.6 72 25 34.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.257352941 1.257352941 1 0.836402071 0.836402071 1 1.092913386 1.092913386 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.51E-09 1 6.05E-08 1 3.63E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 142840769 T C - - - - - - 19 0 0 20 4 20 21 0 0 34 2 5.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.470588235 1.470588235 1 0 NA 0 0.234459894 0.28443853 0.824290202 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.00000284 1 1 1 0.012612579 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 146871305 C T - - - - - - 42 0 0 38 12 31.6 52 13 25 103 39 37.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.639529412 1.319764706 2 1.63744252 0.992350275 1.650065064 1.506106774 0.825585081 1.824290202 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 5.86E-19 1 6.47E-19 1 5.09E-62 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 147043181 T A BCL9 CCDS30833.1 r.? - - intronic 37 0 0 32 3 9.4 52 1 1.9 89 0 0 0 0 NA 0 0 NA 0 0 NA 1 1 0 0 FALSE FALSE 0.785176471 0.785176471 1 0.124445631 0.124445631 1 0 NA 0 NA NA 1 NA NA 1 0 NA 0 NA NA 1 1 0.000556213 1 0.229451111 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 147043182 T A BCL9 CCDS30833.1 r.? - - intronic 36 0 0 31 3 9.7 52 1 1.9 88 0 0 0 0 NA 0 0 NA 0 0 NA 1 1 0 0 TRUE FALSE 0.810235294 0.810235294 1 0.124445631 0.124445631 1 0 0 1 NA NA 1 NA NA 0 0 NA 0 8 NA 1 1 0.000505952 1 0.229451111 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 149047738 C A - - - - - - 19 0 0 14 6 42.9 17 7 41.2 26 17 65.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.583411765 1.791705882 2 2.698505273 1.635393253 1.650065064 2.598928312 1.424624387 1.824290202 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 4.53E-11 1 1.45E-12 1 2.28E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 149647990 G T - - - - - - 14 0 0 25 4 16 20 2 10 32 8 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.336470588 1.336470588 1 0.654977008 0.654977008 1 0.993474125 0.993474125 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.00000727 1 0.004473894 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 150074724 C T VPS45 CCDS944.1 r.? - - intronic 33 0 0 40 5 12.5 33 5 15.2 105 29 27.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.044117647 1.044117647 1 0.995565052 0.995565052 1 1.096795434 1.096795434 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.00000178 1 0.00000066 1 8.36E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 42254285 C T ASB16 CCDS11478.1 r.833c>u c.749C>T p.A250V missense 25 0 0 7 0 0 1 0 0 26 9 34.6 93 0 0 13 2 15.4 16 4 25 1.65E-05 12 4 33.3 FALSE TRUE 0 NA 0 0 NA 0 1.08976378 1.08976378 1 1.101244087 1.101244087 1 0.974926254 0.974926254 1 1.048818898 1.048818898 1 NA 11 1 1 1 0.001879825 1 0.00000108 5.65E-15 0.0000003 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 152722964 A C - - - - - - 40 0 0 55 5 9.1 43 8 18.6 79 18 22.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.760117647 0.760117647 1 1.218257235 1.218257235 1 0.906048402 0.906048402 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.00000883 1 4.85E-11 1 7.86E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 155103270 A C EFNA1 CCDS1091.1 r.? - - intronic 31 0 0 43 9 20.9 38 4 10.5 74 20 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.745764706 1.745764706 1 0.687725858 0.687725858 1 1.072952055 1.072952055 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 9.45E-13 1 0.0000403 1 4.34E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 156333325 G A CCT3 ENST00000368262 r.? - - intronic 34 0 0 42 5 11.9 14 4 28.6 89 24 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.994 0.994 1 1.873234243 1.873234243 1 1.072952055 1.072952055 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.00000228 1 0.000000601 1 1.41E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 156457982 G A MEF2D CCDS1143.1 r.? - - intronic 26 0 0 26 6 23.1 15 3 20 79 37 46.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.929529412 1.929529412 1 1.309954016 1.309954016 1 1.859783563 1.019455984 1.824290202 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.3E-09 1 0.0000544 1 2.74E-63 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 156872489 A T PEAR1 CCDS30892.1 r.? - - intronic 36 0 0 35 3 8.6 15 3 20 84 17 20.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.718352941 0.718352941 1 1.309954016 1.309954016 1 0.802727093 0.802727093 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.000725791 1 0.0000544 1 1.42E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 156939857 G A ARHGEF11 CCDS1163.1 r.? - - intronic 31 0 0 45 9 20 50 12 24 109 33 30.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.670588235 1.670588235 1 1.571944819 1.571944819 1 1.20409064 1.20409064 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 1.47E-12 1 2.49E-17 1 7.09E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 157079618 C G - - - - - - 20 0 0 37 6 16.2 27 0 0 74 23 31.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.353176471 1.353176471 1 0 0 1 1.235881812 1.235881812 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 3.18E-08 1 1 1 7.7E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 157780387 G A FCRL1 CCDS1170.1 r.? - - intronic 27 0 0 31 4 12.9 40 6 15 85 17 20 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.077529412 1.077529412 1 0.982465512 0.982465512 1 0.7947793 0.7947793 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.0000177 1 5.18E-08 1 1.77E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 158597946 T C SPTA1 CCDS41423.1 r.? - - intronic 20 0 0 39 6 15.4 39 1 2.6 90 14 15.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.286352941 1.286352941 1 0.170294022 0.170294022 1 0.619927854 0.752074758 0.824290202 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 4.43E-08 1 0.177567718 1 3.87E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 159432916 G T - - - - - - 39 0 0 28 4 14.3 36 5 13.9 89 26 29.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.194470588 1.194470588 1 0.910418041 0.910418041 1 1.160377778 1.160377778 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.0000116 1 0.00000104 1 2.27E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 159531625 A C - - - - - - 31 0 0 41 8 19.5 38 8 21.1 97 27 27.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.628823529 1.628823529 1 1.382001487 1.382001487 1 1.104743227 1.104743227 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 3.22E-11 1 1.67E-11 1 3.92E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 159664009 A T - - - - - - 40 0 0 33 4 12.1 36 6 16.7 86 16 18.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.010705882 1.010705882 1 1.093811603 1.093811603 1 0.739144749 0.739144749 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.0000228 1 2.68E-08 1 1.06E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 160639149 C T - - - - - - 32 0 0 29 4 13.8 55 10 18.2 77 21 27.3 1 0 0 3 0 0 0 0 NA 1 0 0 NA TRUE FALSE 1.152705882 1.152705882 1 1.192058154 1.192058154 1 1.084873745 1.084873745 1 0 0 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000134 1 2.33E-13 1 1.46E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 160783055 G A LY9 CCDS30916.1 r.? - - intronic 25 0 0 38 5 13.2 48 3 6.2 79 19 24.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.102588235 1.102588235 1 0.406085745 0.406085745 1 0.957709057 0.957709057 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.00000137 1 0.001827434 1 1.27E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 162642895 T C DDR2 CCDS1241.1 r.? - - intronic 37 0 0 41 8 19.5 55 5 9.1 82 24 29.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.628823529 1.628823529 1 0.596029077 0.596029077 1 1.164351675 1.164351675 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 3.22E-11 1 0.00000883 1 1.47E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 151703123 A C C1orf230 ENST00000326413 r.? - - downstream 35 0 0 40 6 15 58 6 10.3 83 0 0 176 0 0 125 5 4 103 2 1.9 0.275328439 157 0 0 TRUE FALSE 1.252941176 1.252941176 1 0.674626318 0.674626318 1 0 0 1 0.334117647 0.334117647 1 0.124445631 0.124445631 1 0 NA 0 7 NA 1 1 5.18E-08 0.000445711 0.000000506 0.094410907 1 1 YES 1_1 1_0 0_0 somatic custom.pulldown.HiSeq PD9777b 1 164255330 G A - - - - - - 28 0 0 25 4 16 42 6 14.3 71 19 26.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.336470588 1.336470588 1 0.936617121 0.936617121 1 1.065004262 1.065004262 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.00000727 1 7.02E-08 1 1.29E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 165571551 G A - - - - - - 27 0 0 41 5 12.2 29 2 6.9 81 11 13.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.019058824 1.019058824 1 0.451934135 0.451934135 1 0.540449924 0.655654917 0.824290202 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.00000202 1 0.009279585 1 4.29E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 166473905 C T - - - - - - 22 0 0 37 5 13.5 39 3 7.7 78 18 23.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.127647059 1.127647059 1 0.504332296 0.504332296 1 0.917970092 0.917970092 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.00000119 1 0.000998458 1 6.1E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 166585279 C A - - - - - - 34 0 0 33 4 12.1 44 6 13.6 73 14 19.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.010705882 1.010705882 1 0.890768731 0.890768731 1 0.762988128 0.762988128 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.0000228 1 9.37E-08 1 1.71E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 167044130 T G GPA33 CCDS1258.1 r.? - - intronic 28 0 0 28 4 14.3 24 3 12.5 52 10 19.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.194470588 1.194470588 1 0.81872126 0.81872126 1 0.762988128 0.762988128 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.0000116 1 0.000233853 1 1.28E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 167229032 A C POU2F1 CCDS1259.1 r.? - - intronic 34 0 0 40 6 15 25 4 16 84 21 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.252941176 1.252941176 1 1.047963213 1.047963213 1 0.993474125 0.993474125 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 5.18E-08 1 0.00000727 1 1.15E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 167965508 C G DCAF6 CCDS1267.2 r.? - - intronic 34 0 0 40 4 10 45 3 6.7 99 20 20.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.835294118 0.835294118 1 0.438834595 0.438834595 1 0.802727093 0.802727093 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.0000495 1 0.001516071 1 2.81E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 168561147 T C - - - - - - 33 0 0 44 5 11.4 42 6 14.3 75 21 28 0 0 NA 1 0 0 0 0 NA 1 0 0 NA TRUE FALSE 0.952235294 0.952235294 1 0.936617121 0.936617121 1 1.11269102 1.11269102 1 0 0 1 NA NA 0 NA NA 0 9 NA 1 1 0.00000288 1 7.02E-08 1 7.75E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 169183632 T A NME7 CCDS1277.1 r.? - - intronic 34 0 0 34 6 17.6 33 4 12.1 102 21 20.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470117647 1.470117647 1 0.79252218 0.79252218 1 0.818622679 0.818622679 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 1.86E-08 1 0.0000228 1 1.05E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 170022965 C A KIFAP3 CCDS1288.1 r.? - - intronic 28 0 0 49 7 14.3 47 5 10.6 102 14 13.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.194470588 1.194470588 1 0.694275628 0.694275628 1 0.544423821 0.660475909 0.824290202 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 5.58E-09 1 0.00000402 1 2.41E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 170514648 G C GORAB CCDS1289.1 r.? - - intronic 34 0 0 34 5 14.7 44 5 11.4 73 21 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227882353 1.227882353 1 0.746673789 0.746673789 1 1.144482192 1.144482192 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.000000771 1 0.00000288 1 4.03E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 170887882 T C - - - - - - 32 0 0 41 8 19.5 40 8 20 81 13 16 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.628823529 1.628823529 1 1.309954016 1.309954016 1 0.63582344 0.771358726 0.824290202 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 3.22E-11 1 2.61E-11 1 3.34E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 172088794 T G DNM3 CCDS44276.1 r.? - - intronic 34 0 0 44 5 11.4 53 10 18.9 87 20 23 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.952235294 0.952235294 1 1.237906545 1.237906545 1 0.913996195 0.913996195 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.00000288 1 1.57E-13 1 1.65E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 173439378 G C AL022310.2 ENST00000421168 r.? - - intronic 24 0 0 40 6 15 59 9 15.3 87 32 36.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.252941176 1.252941176 1 1.002114822 1.002114822 1 1.462393913 0.801623509 1.824290202 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 5.18E-08 1 1.96E-11 1 1.12E-50 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 174470370 G A RABGAP1L CCDS1314.1 r.? - - intronic 20 0 0 35 7 20 30 8 26.7 68 16 23.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.670588235 1.670588235 1 1.748788611 1.748788611 1 0.933865678 0.933865678 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 4.65E-10 1 2.07E-12 1 1.75E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 175545647 C T TNR CCDS1318.1 r.? - - intronic 33 0 0 35 4 11.4 37 4 10.8 86 19 22.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.952235294 0.952235294 1 0.707375169 0.707375169 1 0.878231127 0.878231127 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.0000289 1 0.0000362 1 7.57E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 176481756 A C PAPPA2 CCDS41438.1 r.? - - intronic 33 0 0 35 6 17.1 38 3 7.9 66 13 19.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.428352941 1.428352941 1 0.517431836 0.517431836 1 0.782857611 0.782857611 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 2.24E-08 1 0.000925091 1 1.95E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 177441079 T G - - - - - - 28 0 0 33 6 18.2 38 4 10.5 84 21 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.520235294 1.520235294 1 0.687725858 0.687725858 1 0.993474125 0.993474125 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 1.54E-08 1 0.0000403 1 1.15E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 177602368 C A - - - - - - 44 0 0 44 5 11.4 43 6 14 85 23 27.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.952235294 0.952235294 1 0.916967811 0.916967811 1 1.076925952 1.076925952 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.00000288 1 8.13E-08 1 3.06E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 177643629 G C - - - - - - 32 0 0 37 4 10.8 39 2 5.1 83 17 20.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.902117647 0.902117647 1 0.334038274 0.334038274 1 0.814648783 0.814648783 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.0000362 1 0.016387522 1 1.14E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 177678721 A G - - - - - - 24 0 0 32 6 18.8 34 1 2.9 83 14 16.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.570352941 1.570352941 1 0.189943332 0.189943332 1 0.671588509 0.671588509 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 1.27E-08 1 0.156694864 1 1.17E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 178170845 G A RASAL2 CCDS1321.1 r.? - - intronic 29 0 0 23 4 17.4 38 8 21.1 48 14 29.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.453411765 1.453411765 1 1.382001487 1.382001487 1 1.160377778 1.160377778 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.00000513 1 1.67E-11 1 2.51E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 178314783 A C RASAL2 CCDS1322.1 r.? - - intronic 33 0 0 40 4 10 43 6 14 90 15 16.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.835294118 0.835294118 1 0.916967811 0.916967811 1 0.663640716 0.80510567 0.824290202 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.0000495 1 8.13E-08 1 9.83E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 179154583 A T ABL2 CCDS44283.1 r.? - - intronic 36 0 0 37 4 10.8 46 7 15.2 95 32 33.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.902117647 0.902117647 1 0.995565052 0.995565052 1 1.339203121 0.734095441 1.824290202 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.0000362 1 3.53E-09 1 3.39E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 180902054 T C KIAA1614 CCDS41442.1 r.? - - intronic 28 0 0 31 4 12.9 36 7 19.4 71 20 28.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.077529412 1.077529412 1 1.270655395 1.270655395 1 1.120638813 1.120638813 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.0000177 1 5.74E-10 1 1.68E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 181412222 C A CACNA1E ENST00000367573 r.? - - intronic 23 0 0 29 10 34.5 34 9 26.5 78 34 43.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.881764706 1.440882353 2 1.735689071 1.735689071 1 1.732618875 0.949749592 1.824290202 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 1.79E-16 1 9.15E-14 1 6.78E-57 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 181921853 G T - - - - - - 24 0 0 30 6 20 45 4 8.9 78 16 20.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.670588235 1.670588235 1 0.582929537 0.582929537 1 0.814648783 0.814648783 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 8.37E-09 1 0.0000791 1 1.96E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 183746881 A T RGL1 CCDS1359.1 r.? - - intronic 36 0 0 43 5 11.6 34 8 23.5 102 28 27.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.968941176 0.968941176 1 1.539195969 1.539195969 1 1.092821538 1.092821538 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.00000257 1 6.32E-12 1 2.48E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 185451843 C G - - - - - - 38 0 0 38 7 18.4 35 5 14.3 108 14 13 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.536941176 1.536941176 1 0.936617121 0.936617121 1 0.516606545 0.626728965 0.824290202 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 8.61E-10 1 0.000000895 1 5.5E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 185703708 C G HMCN1 CCDS30956.1 r.26c>g c.? p.? 5'UTR variant 28 0 0 20 3 15 13 2 15.4 65 11 16.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.252941176 1.252941176 1 1.008664592 1.008664592 1 0.671588509 0.671588509 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.0001337 1 0.001879825 1 3.41E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 186564625 C T - - - - - - 20 0 0 29 4 13.8 12 3 25 64 20 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.152705882 1.152705882 1 1.63744252 1.63744252 1 1.239855708 1.239855708 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.0000134 1 0.0000266 1 1.52E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 187209864 T A - - - - - - 25 0 0 27 7 25.9 43 5 11.6 88 25 28.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.163411765 1.081705882 2 0.759773329 0.759773329 1 1.128586606 1.128586606 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 6.36E-11 1 0.00000257 1 1.33E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 188828571 C T - - - - - - 24 0 0 28 4 14.3 29 3 10.3 66 15 22.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.194470588 1.194470588 1 0.674626318 0.674626318 1 0.902074506 0.902074506 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.0000116 1 0.000414371 1 6.45E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 189401431 C A - - - - - - 33 0 0 42 6 14.3 41 6 14.6 71 13 18.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.194470588 1.194470588 1 0.956266432 0.956266432 1 0.72722306 0.72722306 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 7.02E-08 1 6.05E-08 1 5.42E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 189826160 A T - - - - - - 30 0 0 48 9 18.8 40 2 5 66 11 16.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.570352941 1.570352941 1 0.327488504 0.327488504 1 0.663640716 0.663640716 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 2.75E-12 1 0.017193422 1 4.07E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 190024811 A G - - - - - - 38 0 0 45 7 15.6 36 4 11.1 83 9 10.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.303058824 1.303058824 1 0.727024479 0.727024479 1 0.429180822 0.429180822 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.000000003 1 0.0000324 1 4.6E-10 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 190273965 A T FAM5C CCDS1373.1 r.? - - intronic 45 0 0 40 5 12.5 51 4 7.8 95 18 18.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.044117647 1.044117647 1 0.616176991 0.616176991 1 0.751066439 0.751066439 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000178 1 0.000129466 1 2.94E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 190282633 C G FAM5C CCDS1373.1 r.? - - intronic 27 0 0 50 5 10 47 5 10.6 80 13 16.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.835294118 0.835294118 1 0.837368732 0.837368732 1 0.643771233 0.78100071 0.824290202 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000549 1 0.00000402 1 2.82E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 190373771 C T FAM5C CCDS1373.1 r.? - - intronic 40 0 0 42 6 14.3 43 8 18.6 81 12 14.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.194470588 1.194470588 1 1.469345133 1.469345133 1 0.70684511 0.70684511 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.02E-08 1 4.85E-11 1 1.26E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 192625966 C T RGS13 CCDS1376.1 r.? - - intronic 26 0 0 49 6 12.2 57 7 12.3 106 17 16 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.098109042 1.098109042 1 0.971663717 0.971663717 1 0.764156876 0.764156876 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000182 1 1.66E-08 1 9.78E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 193469261 C T - - - - - - 38 0 0 58 10 17.2 50 7 14 81 16 19.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.548153732 1.548153732 1 1.105958702 1.105958702 1 0.945644133 0.945644133 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.1E-13 1 6.46E-09 1 3.77E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 194144977 T G - - - - - - 36 0 0 49 5 10.2 43 3 7 86 23 26.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.918091167 0.918091167 1 0.552979351 0.552979351 1 1.275186786 1.275186786 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000496 1 0.001328364 1 4.16E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 194322809 G A - - - - - - 25 0 0 44 12 27.3 50 12 24 116 60 51.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.457244005 0.927978844 2.647952613 1.895929204 0.947964602 2 2.469181904 0.940148563 2.626374173 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.44E-18 1 2.49E-17 1 3.77E-105 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 194570615 T A - - - - - - 27 0 0 32 11 34.4 25 4 16 84 41 48.8 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 3.096307464 1.169321327 2.647952613 1.263952802 1.263952802 1 2.33067847 0.887412957 2.626374173 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 5.72E-18 1 0.00000727 1 6.04E-71 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 196262504 A G KCNT2 CCDS1384.1 r.? - - intronic 40 0 0 41 5 12.2 45 4 8.9 115 18 15.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.019058824 1.019058824 1 0.703073746 0.703073746 1 0.89839287 0.89839287 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00000202 1 0.0000791 1 1.14E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 196272255 G C KCNT2 CCDS1384.1 r.? - - intronic 38 0 0 62 6 9.7 49 4 8.2 108 19 17.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.810235294 0.810235294 1 0.647775811 0.647775811 1 1.007115574 1.007115574 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000000756 1 0.000110643 1 8.24E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 197292432 T C CRB1 CCDS1390.1 r.? - - intronic 31 0 0 49 8 16.3 54 10 18.5 99 16 16.2 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.361529412 1.361529412 1 1.320329933 1.320329933 1 0.757018796 0.757018796 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.47E-10 1 1.91E-13 1 1.17E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 198185407 G A NEK7 CCDS1394.1 r.? - - intronic 31 0 0 53 6 11.3 41 4 9.8 89 9 10.1 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 0.943882353 0.943882353 1 0.699418019 0.699418019 1 0.471968508 0.90182326 0.523349229 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 0.000000293 1 0.0000546 1 8.66E-10 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 198901676 G A - - - - - - 38 0 0 48 21 43.8 71 30 42.3 118 97 82.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.658588235 1.219529412 3 3.01891655 1.006305517 3 3.841169444 1.090204006 3.523349229 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.35E-36 1 7.32E-50 1 5.42E-201 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 199959019 C T - - - - - - 37 0 0 36 6 16.7 45 3 6.7 106 24 22.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.394941176 1.394941176 1 0.478173543 0.478173543 1 1.056087949 1.056087949 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.68E-08 1 0.001516071 1 1.56E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 200508289 C T - - - - - - 13 0 0 45 8 17.8 39 2 5.1 93 19 20.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.486823529 1.486823529 1 0.363982846 0.363982846 1 0.953282928 0.953282928 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 7.14E-11 1 0.016387522 1 3.86E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 200705203 C T CAMSAP1L1 CCDS1404.1 r.? - - upstream 27 0 0 47 9 19.1 30 4 13.3 114 48 42.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.595411765 1.595411765 1 0.949210168 0.949210168 1 1.967314278 0.983657139 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.24E-12 1 0.0000154 1 9.67E-79 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 202092079 T G GPR37L1 CCDS1420.1 r.94u>g c.? p.? 5'UTR variant 23 0 0 32 3 9.4 2 0 0 81 15 18.5 102 2 2 18 0 0 34 2 5.9 0.045418392 39 6 15.4 TRUE TRUE 0.785176471 0.785176471 1 0 0 1 0.864496773 0.864496773 1 0 0 1 0.421078195 0.421078195 1 0.719635151 0.719635151 1 9 11 1 0.092873916 0.000556213 1 1 0.012612579 1.82E-19 4.43E-08 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 204206259 T C PLEKHA6 CCDS1444.1 r.? - - intronic 33 1 3 42 13 31 51 20 39.2 114 91 79.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.589411765 0.863137255 3 2.797672075 1.012626969 2.762786457 3.729018512 1.058373232 3.523349229 NA NA 1 NA NA 0 NA NA 1 9 NA 0.15245715 1 2.72E-20 1 6.38E-33 1 2.62E-186 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 204240053 T C PLEKHA6 CCDS1444.1 r.? - - intronic 27 0 0 40 4 10 28 5 17.9 94 12 12.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.835294118 0.835294118 1 1.277508422 1.277508422 1 0.598138308 1.142904726 0.523349229 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000495 1 0.000000279 1 7.98E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 204387543 C G PIK3C2B CCDS1446.1 r.? - - downstream 36 0 0 42 5 11.9 29 4 13.8 108 24 22.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.994 0.994 1 0.984894761 0.984894761 1 1.037396127 1.037396127 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000228 1 0.0000134 1 2.56E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 205823854 G A PM20D1 CCDS1460.1 r.? - - upstream 20 0 0 27 6 22.2 27 0 0 52 4 7.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.854352941 1.854352941 1 0 0 1 0.359817576 0.687528624 0.523349229 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 4.23E-09 1 1 1 0.000139698 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 205852196 G A - - - - - - 47 0 0 37 6 16.2 63 17 27 108 53 49.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.353176471 1.353176471 1 1.926968011 0.963484005 2 2.294421165 0.909276107 2.523349229 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.18E-08 1 6.22E-25 1 2.07E-91 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 206775302 G A LGTN CCDS1465.1 r.? - - intronic 42 0 0 35 5 14.3 44 4 9.1 95 12 12.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.194470588 1.194470588 1 0.649459589 0.649459589 1 0.588792397 1.12504684 0.523349229 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000895 1 0.0000723 1 9.09E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 206856268 C A MAPKAPK2 CCDS31001.1 r.? - - upstream 30 0 0 38 14 36.8 51 10 19.6 106 42 39.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.073882353 1.024627451 3 1.398836037 1.398836037 1 1.850490389 0.925245195 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 5.28E-23 1 1.04E-13 1 1.07E-67 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 206892348 G A MAPKAPK2 CCDS31001.1 r.? - - intronic 26 0 0 38 6 15.8 48 4 8.3 84 12 14.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.319764706 1.319764706 1 0.59236424 0.59236424 1 0.668232641 0.668232641 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.76E-08 1 0.000102016 1 1.98E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 207113571 A C PIGR CCDS1474.1 r.? - - intronic 32 0 0 38 4 10.5 33 2 6.1 76 19 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.877058824 0.877058824 1 0.435352032 0.435352032 1 1.168238882 1.168238882 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000403 1 0.011909843 1 5.56E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 207805095 A C CR1 CCDS44308.1 r.? - - intronic 45 0 0 39 5 12.8 50 16 32 116 39 33.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.069176471 1.069176471 1 2.283813939 1.141906969 2 1.570113058 1.030698035 1.523349229 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000156 1 6.4E-25 1 1.43E-59 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 208664053 T A - - - - - - 30 0 0 37 14 37.8 49 21 42.9 80 61 76.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.157411765 1.052470588 3 3.061738061 1.020579354 3 3.560792113 1.010627071 3.523349229 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.35E-23 1 1.63E-35 1 4.58E-123 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 208756099 C T - - - - - - 37 0 0 32 9 28.1 33 18 54.5 99 81 81.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.347176471 1.173588235 2 3.889620614 1.296540205 3 3.822477622 1.084898877 3.523349229 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 4.94E-14 1 3.68E-33 1 9.51E-168 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 209012921 G A - - - - - - 24 0 0 35 4 11.4 52 5 9.6 92 24 26.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.952235294 0.952235294 1 0.685144182 0.685144182 1 1.219641393 1.219641393 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000289 1 0.00000668 1 3.47E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 209342972 G A - - - - - - 37 0 0 45 5 11.1 48 4 8.3 99 17 17.2 0 0 NA 0 0 NA 0 0 NA 1 1 0 0 TRUE FALSE 0.927176471 0.927176471 1 0.59236424 0.59236424 1 0.803748351 0.803748351 1 NA NA 1 NA NA 1 0 0 1 9 NA 1 1 0.00000323 1 0.000102016 1 2.86E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 209724527 C G - - - - - - 43 0 0 49 7 14.3 47 3 6.4 121 33 27.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.194470588 1.194470588 1 0.456762788 0.456762788 1 1.275716859 1.275716859 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 5.58E-09 1 0.001719595 1 3.81E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 143362688 G T - - - - - - 15 0 0 14 3 21.4 12 4 33.3 21 3 14.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.573529412 1.573529412 1 1.907684175 1.907684175 1 0.5682672 0.5682672 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000437 1 0.0000003 1 0.000155401 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 210413694 G C SERTAD4 CCDS1494.1 r.? - - intronic 36 0 0 58 4 6.9 49 3 6.1 116 27 23.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.576352941 0.576352941 1 0.435352032 0.435352032 1 1.088798638 1.088798638 1 NA NA 1 NA NA 0 NA NA 1 6 NA 1 1 0.000213772 1 0.001939399 1 9.15E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 211121505 A C KCNH1 CCDS31015.1 r.? - - intronic 28 0 0 36 4 11.1 29 4 13.8 91 17 18.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.927176471 0.927176471 1 0.984894761 0.984894761 1 0.873842684 0.873842684 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000324 1 0.0000134 1 6.18E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 212920944 T C NSL1 CCDS1509.1 r.? - - intronic 26 0 0 33 5 15.2 52 7 13.5 106 17 16 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.269647059 1.269647059 1 0.963484005 0.963484005 1 0.747672885 0.747672885 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000066 1 8.58E-09 1 9.78E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 212956355 A T NSL1 CCDS1509.1 r.? - - intronic 28 0 0 43 4 9.3 48 5 10.4 111 21 18.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.776823529 0.776823529 1 0.74223953 0.74223953 1 0.883188595 0.883188595 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000066 1 0.00000447 1 7.2E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 163269725 C A - - - - - - 31 0 0 36 4 11.1 40 0 0 96 0 0 145 0 0 362 21 5.8 388 4 1 0.543630948 438 0 0 TRUE FALSE 0.927176471 0.927176471 1 0 0 1 0 0 1 0.484470588 0.484470588 1 0.065497701 0.065497701 1 0 NA 0 8 NA 1 1 0.0000324 5.48E-16 1 0.131749849 1 1 YES 1_1 0_0 0_0 somatic custom.pulldown.HiSeq PD9777b 1 216004359 C A USH2A CCDS31025.1 r.? - - intronic 24 0 0 48 6 12.5 52 1 1.9 98 10 10.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.044117647 1.044117647 1 0.135601453 0.135601453 1 0.476641464 0.910752204 0.523349229 NA NA 1 NA NA 0 NA NA 1 6 NA 1 1 0.00000016 1 0.229451111 1 9.17E-11 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 216092779 T C USH2A CCDS31025.1 r.? - - intronic 32 0 0 36 6 16.7 47 9 19.1 120 54 45 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.394941176 1.394941176 1 1.363151445 1.363151445 1 2.102829988 1.051414994 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.68E-08 1 2.24E-12 1 2.14E-90 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 216300300 A G USH2A CCDS31025.1 r.? - - intronic 30 0 0 46 9 19.6 53 5 9.4 93 24 25.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.637176471 1.637176471 1 0.670870344 0.670870344 1 1.205622526 1.205622526 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.82E-12 1 0.00000734 1 4.66E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 218373712 A T - - - - - - 30 0 0 50 4 8 58 1 1.7 111 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.668235294 0.668235294 1 0.121327615 0.121327615 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 8 NA 1 1 0.000119787 1 0.252280541 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 220250291 C T BPNT1 CCDS41469.1 r.? - - intronic 23 0 0 30 4 13.3 46 11 23.9 108 47 43.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.110941176 1.110941176 1 1.705723535 0.967629136 1.762786457 2.032735655 1.016367827 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000154 1 5.55E-16 1 5.32E-78 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 220494756 C A - - - - - - 33 0 0 47 16 34 33 14 42.4 111 81 73 0 0 NA 4 4 100 5 2 40 0.00098015 4 3 75 TRUE TRUE 2.84 0.946666667 3 3.026053469 1.00868449 3 3.411257536 0.968186039 3.523349229 8.352941176 2.784313725 3 2.854767423 2.854767423 1 3.504716646 0.994711684 3.523349229 9 12 1 1 1.98E-25 6.25E-10 4.57E-24 0.000247509 4.09E-160 0.000000498 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 220796036 C G MARK1 CCDS31029.2 r.? - - intronic 24 0 0 36 13 36.1 42 19 45.2 78 56 71.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.015411765 1.005137255 3 3.225887188 1.075295729 3 3.35518207 0.952270652 3.523349229 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.53E-21 1 7.64E-33 1 1.76E-110 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 226223229 C G - - - - - - 32 0 0 41 5 12.2 37 2 5.4 93 18 19.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.019058824 1.019058824 1 0.385393602 0.385393602 1 0.906553373 0.906553373 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000202 1 0.014826063 1 1.95E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 227098171 C T CABC1 CCDS1557.1 r.? - - intronic 25 0 0 58 8 13.8 47 4 8.5 110 18 16.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.152705882 1.152705882 1 0.606638077 0.606638077 1 0.766364707 0.766364707 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 5.99E-10 1 0.0000939 1 4.92E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 227133217 C G CABC1 CCDS1557.1 r.? - - intronic 27 0 0 38 4 10.5 18 6 33.3 120 57 47.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.877058824 0.877058824 1 2.37659388 0.860216277 2.762786457 2.219653876 1.109826938 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000403 1 2.75E-10 1 4.24E-97 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 227453022 A T CDC42BPA CCDS1558.1 r.? - - intronic 35 0 0 61 5 8.2 34 3 8.8 115 23 20 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.684941176 0.684941176 1 0.628048833 0.628048833 1 0.934591106 0.934591106 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000147 1 0.000666058 1 6.97E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 227776248 T C ZNF678 CCDS1560.1 r.? - - intronic 24 0 0 28 4 14.3 32 0 0 75 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.194470588 1.194470588 1 0 0 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 8 NA 1 1 0.0000116 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 231318929 A C TRIM67 CCDS44333.1 r.? - - intronic 32 0 0 41 4 9.8 45 5 11.1 109 15 13.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.818588235 0.818588235 1 0.79219796 0.79219796 1 0.644867863 1.232194158 0.523349229 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000546 1 0.00000323 1 1.99E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 143502388 A T - - - - - - 23 0 0 25 2 8 19 2 10.5 41 4 9.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.588235294 0.588235294 1 0.601522037 0.601522037 1 0.389441857 0.47245722 0.824290202 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.006948068 1 0.004039874 1 0.0000546 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 233320035 C G PCNXL2 CCDS44335.1 r.? - - intronic 29 0 0 33 6 18.2 62 6 9.7 89 14 15.7 0 0 NA 2 0 0 0 0 NA 1 0 0 NA TRUE FALSE 1.520235294 1.520235294 1 0.6922811 0.6922811 1 0.733654018 0.733654018 1 0 0 1 NA NA 0 NA NA 1 9 NA 1 1 1.54E-08 1 0.000000756 1 3.28E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 234293136 C T SLC35F3 CCDS1600.1 r.? - - intronic 39 0 0 50 12 24 32 5 15.6 89 24 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.004705882 1.002352941 2 1.113359295 1.113359295 1 1.261697993 1.261697993 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.49E-17 1 0.000000562 1 1.41E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 234772009 C G - - - - - - 26 0 0 43 10 23.3 45 15 33.3 121 49 40.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.946235294 0.973117647 2 2.37659388 0.860216277 2.762786457 1.892546989 0.946273495 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.61E-14 1 9.14E-24 1 2.71E-79 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 237065982 G A MTR CCDS1614.1 r.9230g>a c.? p.? 3'UTR variant 39 0 0 33 5 15.2 43 7 16.3 96 21 21.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.269647059 1.269647059 1 1.163317725 1.163317725 1 1.023377261 1.023377261 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000066 1 2.15E-09 1 2.61E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 237355510 A T RYR2 ENST00000366574 r.? - - intronic 31 0 0 47 8 17 26 4 15.4 86 15 17.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.42 1.42 1 1.099085458 1.099085458 1 0.813094262 0.813094262 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.03E-10 1 0.00000856 1 4.76E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 237388005 T A RYR2 ENST00000366574 r.? - - intronic 30 0 0 54 9 16.7 50 9 18 75 12 16 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.394941176 1.394941176 1 1.28464534 1.28464534 1 0.747672885 0.747672885 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 8.48E-12 1 4.07E-12 1 4.77E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 237427783 G T RYR2 ENST00000366574 r.? - - intronic 24 0 0 35 5 14.3 37 1 2.7 92 19 20.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.194470588 1.194470588 1 0.192696801 0.192696801 1 0.967301794 0.967301794 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000895 1 0.169281299 1 3.08E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 237766916 A G RYR2 ENST00000366574 r.? - - intronic 28 0 0 35 4 11.4 43 3 7 93 18 19.4 0 0 NA 0 0 NA 2 0 0 1 0 0 NA TRUE FALSE 0.952235294 0.952235294 1 0.499584299 0.499584299 1 0.906553373 0.906553373 1 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 0.0000289 1 0.001328364 1 1.95E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 238414039 C T - - - - - - 33 0 0 42 8 19 32 8 25 77 24 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.587058824 1.587058824 1 1.78422964 1.78422964 1 1.457962125 0.957076747 1.523349229 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.96E-11 1 3.69E-12 1 2.53E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 239087853 C T - - - - - - 28 0 0 31 4 12.9 47 2 4.3 74 12 16.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.077529412 1.077529412 1 0.306887498 1.293718283 0.237213543 0.757018796 0.757018796 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000177 1 0.02328732 1 4.02E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 239119518 C A - - - - - - 26 0 0 41 5 12.2 45 6 13.3 95 14 14.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.019058824 1.019058824 1 0.949210168 0.949210168 1 0.686924463 0.686924463 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000202 1 0.000000108 1 8.54E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 145439219 A C TXNIP CCDS913.1 r.? - - intronic 36 0 0 37 3 8.1 36 7 19.4 76 22 28.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.595588235 0.595588235 1 1.111383573 1.111383573 1 1.148456089 1.148456089 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000855237 1 5.74E-10 1 1.34E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 239389449 G A - - - - - - 27 0 0 31 4 12.9 40 3 7.5 100 20 20 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.077529412 1.077529412 1 0.535268892 0.535268892 1 0.934591106 0.934591106 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000177 1 0.001075403 1 3.49E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 241933627 G A WDR64 ENST00000366552 r.? - - intronic 30 0 0 33 10 30.3 51 10 19.6 82 27 32.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.530941176 0.843647059 3 1.398836037 1.398836037 1 1.537402369 1.009225159 1.523349229 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 8.14E-16 1 1.04E-13 1 1.96E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 242974276 C T - - - - - - 31 0 0 37 9 24.3 35 7 20 107 45 42.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.029764706 1.014882353 2 1.427383712 1.427383712 1 1.967314278 0.983657139 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.14E-13 1 4.65E-10 1 6.83E-74 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 243781764 C G AKT3 CCDS31077.1 r.? - - intronic 27 0 0 44 4 9.1 59 7 11.9 106 21 19.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.760117647 0.760117647 1 0.849293308 0.849293308 1 0.925245195 0.925245195 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000723 1 2.12E-08 1 2.53E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 244000171 G A AKT3 CCDS31077.1 r.? - - intronic 23 0 0 44 9 20.5 37 13 35.1 88 33 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.712352941 1.712352941 1 2.505058414 0.906714454 2.762786457 1.752358323 0.876179162 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.18E-12 1 3.89E-21 1 1.5E-52 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 245758475 G A KIF26B CCDS44342.1 r.? - - intronic 37 0 0 47 17 36.2 44 22 50 109 76 69.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.023764706 1.007921569 3 3.568459279 1.189486426 3 3.257050003 0.924418725 3.523349229 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.81E-27 1 4.51E-39 1 9.91E-148 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 246115670 A G SMYD3 CCDS31083.1 r.? - - intronic 37 0 0 42 8 19 68 19 27.9 98 40 40.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.587058824 1.587058824 1 1.991200278 0.995600139 2 1.906565856 0.953282928 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.96E-11 1 5.06E-28 1 3.37E-65 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 246186805 C T SMYD3 CCDS31083.1 r.? - - intronic 34 0 0 33 5 15.2 39 12 30.8 115 16 13.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.269647059 1.269647059 1 2.198170916 1.099085458 2 0.649540818 1.241123101 0.523349229 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000066 1 8.43E-19 1 1.43E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 247430502 C T - - - - - - 41 0 0 36 5 13.9 48 2 4.2 100 15 15 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.161058824 1.161058824 1 0.299750579 1.263631812 0.237213543 0.700943329 0.700943329 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000104 1 0.024220359 1 5.19E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 247826132 C A - - - - - - 36 0 0 44 4 9.1 45 8 17.8 102 19 18.6 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 0.760117647 0.760117647 1 1.270371503 1.270371503 1 0.869169728 0.869169728 1 NA NA 1 0 NA 0 NA NA 1 9 NA 1 1 0.0000723 1 7.14E-11 1 2.57E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 248220199 G A OR2L13 CCDS1637.1 r.? - - intronic 30 0 0 37 11 29.7 38 5 13.2 105 31 29.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.480823529 0.826941176 3 0.94207325 0.94207325 1 1.378521881 0.904928334 1.523349229 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.7E-17 1 0.00000137 1 1.29E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 248347067 T A OR2M2 CCDS31106.1 r.? - - downstream 36 0 0 38 5 13.2 56 5 8.9 94 14 14.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.102588235 1.102588235 1 0.635185752 0.635185752 1 0.696270374 0.696270374 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000137 1 0.00000965 1 7.32E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 248358594 G A - - - - - - 39 0 0 44 5 11.4 60 4 6.7 82 16 19.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.952235294 0.952235294 1 0.478173543 0.478173543 1 0.911226328 0.911226328 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000288 1 0.000243755 1 4.67E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 248609065 T C - - - - - - 46 0 0 48 6 12.5 37 8 21.6 82 20 24.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.044117647 1.044117647 1 1.541574409 1.541574409 1 1.140201149 1.140201149 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.00000016 1 1.33E-11 1 4.4E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 212964862 G C NSL1 CCDS1509.1 r.253+10c>g c.234+10C>G p.? splice region 35 0 0 46 5 10.9 25 3 12 96 14 14.6 190 0 0 104 15 14.4 98 11 11.2 5.04E-09 143 21 14.7 TRUE TRUE 0.910470588 0.910470588 1 0.856430227 0.856430227 1 0.682251507 0.682251507 1 1.202823529 1.202823529 1 0.799334878 0.799334878 1 0.686924463 1.312554646 0.523349229 9 12 1 1 0.00000361 9.59E-18 0.00026475 3.67E-12 9.96E-17 2.03E-24 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 10 5044468 A G AKR1C2 CCDS7062.1 r.? - - intronic 22 0 0 27 7 25.9 36 4 11.1 47 22 46.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.199411765 1.066470588 3 1.058231242 1.058231242 1 2.932807399 1.01730312 2.882923823 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 6.36E-11 1 0.0000324 1 3.14E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 5070074 G C - - - - - - 14 0 0 22 4 18.2 24 3 12.5 32 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 2.248235294 2.248235294 1 1.191701849 1.191701849 1 0 NA 0 NA NA 1 NA NA 0 NA NA 0 NA NA 1 1 0.00000425 1 0.000233853 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 5625102 C G - - - - - - 43 0 0 52 7 13.5 46 8 17.4 154 47 30.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.667647059 1.667647059 1 1.658848974 1.658848974 1 1.911338155 1.015090537 1.882923823 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 8.58E-09 1 8.61E-11 1 4.09E-69 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 5881258 A T GDI2 ENST00000380127 r.? - - intronic 36 0 0 56 6 10.7 44 6 13.6 140 45 32.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.321764706 1.321764706 1 1.296571612 1.296571612 1 2.011605075 1.005802537 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000409 1 9.37E-08 1 1.94E-67 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 6063675 G A IL2RA CCDS7076.1 r.? - - intronic 31 0 0 64 5 7.8 50 9 18 142 49 34.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.963529412 0.963529412 1 1.716050663 1.716050663 1 2.162005454 1.081002727 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000186 1 4.07E-12 1 4.31E-75 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 129576843 G T - - - - - - 35 0 0 42 4 9.5 17 0 0 66 0 0 184 0 0 49 2 4.1 56 0 0 1 70 0 0 TRUE TRUE 0.698529412 0.698529412 1 0 0 1 0 0 1 0.301470588 0.301470588 1 0 0 1 0 0 1 8 6 1 1 0.0000601 0.025168485 1 1 1 1 YES 1_1 0_0 0_0 somatic custom.pulldown.HiSeq PD9777b 10 7525890 G A - - - - - - 29 0 0 59 10 16.9 59 9 15.3 153 28 18.3 2 0 0 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 2.087647059 1.043823529 2 1.458643064 1.458643064 1 1.146802893 1.146802893 1 NA NA 1 0 NA 0 NA NA 1 9 NA 1 1 4.91E-13 1 1.96E-11 1 7.11E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 7908873 T C TAF3 CCDS41487.1 r.? - - intronic 38 0 0 63 8 12.7 54 5 9.3 167 31 18.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.568823529 1.568823529 1 0.886626176 0.886626176 1 1.165602941 1.165602941 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.18E-09 1 0.00000806 1 1.2E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 9460033 T C - - - - - - 30 0 0 60 6 10 69 9 13 80 25 31.2 0 0 NA 0 0 NA 2 0 0 1 0 0 NA TRUE FALSE 1.035294118 1.035294118 1 1.156961652 1.156961652 1 1.672744578 0.935411051 1.788245473 NA NA 1 0 0 1 NA NA 0 9 NA 1 1 0.000000621 1 8.45E-11 1 8.31E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 9523368 T G - - - - - - 26 0 0 39 6 15.4 71 7 9.9 97 13 13.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.594352941 1.594352941 1 0.881070796 0.881070796 1 0.718422351 0.718422351 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 4.43E-08 1 7.85E-08 1 3.85E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 9760717 G C - - - - - - 33 0 0 49 5 10.2 70 14 20 117 25 21.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.056 1.056 1 1.779941003 0.889970501 2 1.147331217 1.147331217 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000496 1 9.08E-19 1 3.94E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 10568124 C A - - - - - - 25 0 0 50 22 44 42 20 47.6 118 88 74.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 4.555294118 1.138823529 4 4.236259587 1.059064897 4 3.999575176 0.999893794 4 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.85E-37 1 4.41E-35 1 2.65E-175 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 10901899 G A - - - - - - 35 0 0 52 5 9.6 73 7 9.6 112 4 3.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.993882353 0.993882353 1 0.854371681 0.854371681 1 0.19300899 0.911475153 0.211754527 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000668 1 9.54E-08 1 0.002527992 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 11180184 T C CELF2 CCDS44354.1 r.? - - intronic 29 0 0 58 18 31 70 31 44.3 123 81 65.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.209411765 1.069803922 3 3.942569322 0.98564233 4 3.533136784 0.932657825 3.788245473 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.42E-27 1 2.75E-52 1 5.01E-154 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 79808343 G C BMP2K CCDS47083.1 r.2133g>c c.1967G>C p.R656T missense 35 0 0 49 10 20.4 42 4 9.5 65 23 35.4 101 0 0 438 43 9.8 410 59 14.4 3.99E-48 358 99 27.7 TRUE TRUE 1.5 1.5 1 0.560471976 0.560471976 1 1.11496063 1.11496063 1 0.720588235 0.720588235 1 0.849557522 0.849557522 1 0.872440945 0.872440945 1 9 11 1 1 6.72E-14 1.24E-40 0.0000601 3.94E-65 2.21E-36 9.78E-139 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 1 148002214 G T NBPF14 CCDS30836.1 r.? - - downstream 24 0 0 21 1 4.8 2 1 50 33 7 21.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.400941176 0.400941176 1 3.274885039 3.274885039 1 0.842466058 0.842466058 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.099912572 1 0.009975 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 15519462 T C - - - - - - 30 0 0 31 5 16.1 45 6 13.3 118 4 3.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.666823529 1.666823529 1 1.183660767 1.183660767 1 0.182286268 0.860837644 0.211754527 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000000476 1 0.000000108 1 0.00305069 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 15577363 G A ITGA8 CCDS31155.1 r.? - - intronic 24 0 0 31 10 32.3 4 3 75 80 58 72.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.344 1.114666667 3 6.674778761 1.66869469 4 3.886986599 1.026065134 3.788245473 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 3.94E-16 1 0.000000498 1 8.43E-115 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 18458174 G T CACNB2 CCDS7127.1 r.? - - intronic 30 0 0 42 5 11.9 76 7 9.2 128 56 43.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.232 1.232 1 0.818772861 0.818772861 1 2.348276042 0.842205632 2.788245473 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000228 1 0.000000126 1 8.62E-93 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 18702918 T G CACNB2 CCDS7128.1 r.? - - intronic 28 0 0 47 8 17 51 8 15.7 102 16 15.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.76 1.76 1 1.397253687 1.397253687 1 0.84173365 0.84173365 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.03E-10 1 2.05E-10 1 1.93E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 18832712 A G CACNB2 CCDS7128.1 r.? - - downstream 32 0 0 45 8 17.8 64 4 6.2 110 17 15.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.842823529 1.842823529 1 0.551781711 0.551781711 1 0.831010928 0.831010928 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 7.14E-11 1 0.000312605 1 1.9E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 19336539 T C ENSG00000234778 ENST00000455529 r.? - - upstream 32 0 0 57 25 43.9 47 24 51.1 117 90 76.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 4.544941176 1.136235294 4 4.547749263 1.136937316 4 4.122886475 1.030721619 4 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 2.54E-42 1 8.6E-43 1 1.73E-181 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 21029239 G A - - - - - - 26 0 0 35 4 11.4 41 3 7.3 90 23 25.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.066235294 1.066235294 1 0.604961362 0.604961362 1 1.102936322 1.102936322 1 NA NA 0 NA NA 0 NA NA 0 9 NA 1 1 0.0000289 1 0.001155993 1 1.36E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 21460006 G A NEBL CCDS7133.1 r.? - - intronic 30 0 0 47 16 34 26 12 46.2 93 76 81.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.18 1.06 3 3.828659576 1.130252655 3.387436924 3.519917872 1.173305957 3 NA NA 0 NA NA 0 NA NA 0 9 NA 1 1 1.98E-25 1 2.21E-21 1 2.1E-157 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 21805038 T G C10orf140 CCDS44363.1 r.3967a>c c.1714A>C p.N572H missense 42 0 0 52 9 17.3 29 3 10.3 114 33 28.9 239 0 0 85 19 22.4 192 22 11.5 8.52E-17 43 9 20.9 TRUE TRUE 1.618058824 1.618058824 1 0.85357562 0.85357562 1 1.245111708 1.245111708 1 2.095058824 1.047529412 2 0.953021323 0.953021323 1 0.900444107 0.900444107 1 9 12 1 1 5.92E-12 5.93E-26 0.000414371 4.6E-23 3.97E-48 9.45E-13 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 10 22101048 T C DNAJC1 CCDS7136.1 r.? - - intronic 23 0 0 37 13 35.1 44 18 40.9 76 59 77.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.282882353 1.094294118 3 3.389441053 1.000591636 3.387436924 3.343275727 1.114425242 3 NA NA 0 NA NA 0 NA NA 0 9 NA 1 1 3.89E-21 1 3.47E-30 1 6.1E-120 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 23915193 G A - - - - - - 29 0 0 29 4 13.8 46 5 10.9 100 29 29 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.290705882 1.290705882 1 0.903298471 0.903298471 1 1.249420053 1.249420053 1 NA NA 0 NA NA 0 NA NA 0 9 NA 1 1 0.0000134 1 0.00000361 1 1.64E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 24620099 T A KIAA1217 CCDS31165.1 r.? - - intronic 33 0 0 28 5 17.9 37 6 16.2 84 20 23.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.674176471 1.674176471 1 1.342516994 1.342516994 1 1.025386112 1.025386112 1 NA NA 0 NA NA 0 NA NA 0 9 NA 1 1 0.000000279 1 3.18E-08 1 7.54E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 25916131 C T - - - - - - 37 0 0 43 6 14 49 9 18.4 107 24 22.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.309411765 1.309411765 1 1.524834117 1.524834117 1 0.965069282 0.965069282 1 NA NA 0 NA NA 0 NA NA 0 9 NA 1 1 8.13E-08 1 3.35E-12 1 2E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 26378553 G T MYO3A CCDS7148.1 r.? - - intronic 20 0 0 33 5 15.2 33 2 6.1 92 26 28.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.421647059 1.421647059 1 0.505515658 0.505515658 1 1.219261638 1.219261638 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.00000066 1 0.011909843 1 6.14E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 27015093 G C PDSS1 CCDS31168.1 r.? - - intronic 31 0 0 46 16 34.8 62 31 50 90 65 72.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.254823529 1.084941176 3 4.143570969 1.223217159 3.387436924 3.110625096 1.036875032 3 NA NA 0 NA NA 0 NA NA 0 9 NA 1 1 1.31E-25 1 1.86E-54 1 2.78E-128 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 30526600 A G AL160060.2 ENST00000502624 r.? - - intronic 39 0 0 43 6 14 68 8 11.8 98 19 19.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.309411765 1.309411765 1 0.977882749 0.977882749 1 0.835818932 0.835818932 1 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 8.13E-08 1 2.21E-09 1 1.13E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 31013944 A C - - - - - - 32 0 0 50 4 8 41 7 17.1 88 4 4.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.748235294 0.748235294 1 1.417101271 1.417101271 1 0.193875525 1.221350015 0.15873871 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 0.000119787 1 1.51E-09 1 0.001043312 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 32273326 A T - - - - - - 29 0 0 31 6 19.4 26 9 34.6 53 5 9.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.426470588 1.426470588 1 2.041297935 2.041297935 1 0.220185251 1.142098983 0.19278999 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.03E-08 1 5.65E-15 1 0.00000734 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 34188379 C T - - - - - - 44 0 0 36 6 16.7 37 9 24.3 51 16 31.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 1.433628319 1.433628319 1 0.735512435 0.735512435 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 2.68E-08 1 2.14E-13 1 9.28E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 34300868 G C - - - - - - 30 0 0 41 4 9.8 33 4 12.1 43 18 41.9 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.720588235 0.720588235 1 0.713864307 0.713864307 1 0.981464045 0.981464045 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000546 1 0.0000228 1 2.06E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 36355070 C A - - - - - - 35 0 0 31 5 16.1 17 3 17.6 45 4 8.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.183823529 1.183823529 1 1.038348083 1.038348083 1 0.20847327 1.081349037 0.19278999 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000000476 1 0.0000807 1 0.0000791 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 37034423 T A - - - - - - 25 0 0 41 7 17.1 40 10 25 57 29 50.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.257352941 1.257352941 1 1.474926254 1.474926254 1 1.192279711 1.192279711 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.51E-09 1 7.22E-15 1 2.45E-51 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 37597515 T G - - - - - - 32 0 0 31 3 9.7 36 3 8.3 51 7 13.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.713235294 0.713235294 1 0.489675516 0.489675516 1 0.320908292 1.664548517 0.19278999 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000505952 1 0.000788827 1 7.46E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 38400415 A T ZNF37A CCDS31183.1 r.? - - intronic 26 0 0 36 3 8.3 38 6 15.8 45 17 37.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.610294118 0.610294118 1 0.932153392 0.932153392 1 0.885425797 0.885425797 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000788827 1 3.76E-08 1 7.37E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 42843405 G A - - - - - - 28 0 0 26 9 34.6 39 13 33.3 46 9 19.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.198117647 2.198117647 1 1.63160177 1.63160177 1 0.518887834 1.042402668 0.497780608 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 5.65E-15 1 8.79E-21 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 44431121 T C - - - - - - 32 0 0 47 19 40.4 61 27 44.3 69 17 24.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.566588235 2.566588235 1 2.170569322 2.170569322 1 0.651257179 1.308321715 0.497780608 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 1.16E-31 1 9.98E-46 1 3.56E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 47354026 T C - - - - - - 49 0 0 42 4 9.5 30 4 13.3 59 17 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.603529412 0.603529412 1 0.651660767 0.651660767 1 0.762447429 0.762447429 1 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 0.0000601 1 0.0000154 1 1.74E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 154728054 A G KCNN3 CCDS30880.1 r.? - - intronic 17 0 0 9 0 0 36 1 2.8 43 5 11.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.183393562 0.183393562 1 0.460971994 0.559235076 0.824290202 NA NA 1 NA NA 0 NA NA 0 6 NA 1 1 1 1 0.165106833 1 0.00000257 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 49600577 T A MAPK8 CCDS7224.1 r.? - - intronic 34 0 0 21 4 19 29 11 37.9 47 16 34 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.207058824 1.207058824 1 1.856988201 1.856988201 1 0.730866142 0.730866142 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000349 1 1.56E-18 1 1.98E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 53855714 G C PRKG1 CCDS7244.1 r.? - - intronic 28 0 0 25 3 12 28 7 25 43 15 34.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.762352941 0.762352941 1 1.224926254 1.224926254 1 0.750212598 0.750212598 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00026475 1 8.44E-11 1 4.05E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 54247794 G A - - - - - - 35 0 0 27 5 18.5 33 8 24.2 55 30 54.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.175294118 1.175294118 1 1.185728614 1.185728614 1 1.171535433 1.171535433 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000023 1 4.85E-12 1 2.55E-54 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 55409286 G A - - - - - - 29 0 0 13 4 30.8 7 3 42.9 37 14 37.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.956705882 1.956705882 1 2.101973451 2.101973451 1 0.812551181 0.812551181 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000431 1 0.00000431 1 3.35E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 56035846 A T PCDH15 CCDS44404.1 r.? - - intronic 26 0 0 27 5 18.5 38 9 23.7 38 14 36.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.175294118 1.175294118 1 1.161230088 1.161230088 1 0.791055118 0.791055118 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000023 1 2.79E-13 1 5.28E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 56240292 C A PCDH15 CCDS44404.1 r.? - - intronic 31 0 0 28 4 14.3 29 7 24.1 42 18 42.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 1.180828909 1.180828909 1 0.922181102 0.922181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000116 1 1.11E-10 1 1.2E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 58324353 G A - - - - - - 37 0 0 31 7 22.6 34 4 11.8 35 16 45.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.435764706 1.435764706 1 0.578165192 0.578165192 1 0.982370079 0.982370079 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.85E-10 1 0.0000257 1 5.66E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 60438771 G C BICC1 CCDS31206.1 r.? - - intronic 32 0 0 21 7 33.3 40 6 15 50 19 38 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.115529412 2.115529412 1 0.734955752 0.734955752 1 0.816850394 0.816850394 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.54E-12 1 5.18E-08 1 5E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 60533179 G C BICC1 CCDS31206.1 r.? - - intronic 34 0 0 30 5 16.7 24 7 29.2 51 24 47.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 1.430713864 1.430713864 1 1.012464567 1.012464567 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 2.51E-11 1 1.2E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 63966488 C T RTKN2 CCDS7263.1 r.? - - intronic 31 0 0 33 8 24.2 27 5 18.5 46 18 39.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.537411765 1.537411765 1 0.906445428 0.906445428 1 0.840496063 0.840496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.85E-12 1 0.00000023 1 9.41E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 65682747 C T - - - - - - 24 0 0 36 9 25 24 8 33.3 43 21 48.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.588235294 1.588235294 1 1.63160177 1.63160177 1 1.049007874 1.049007874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.63E-13 1 2.68E-13 1 4.52E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 68028480 C G CTNNA3 CCDS7269.1 r.? - - intronic 39 0 0 38 8 21.1 34 8 23.5 48 27 56.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.340470588 1.340470588 1 1.151430678 1.151430678 1 1.20807874 1.20807874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.67E-11 1 6.32E-12 1 1.5E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 68787788 G A LRRTM3 CCDS7270.1 r.? - - intronic 27 0 0 24 5 20.8 25 5 20 41 17 41.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.321411765 1.321411765 1 0.979941003 0.979941003 1 0.892086614 0.892086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000123 1 0.000000153 1 1.03E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 74453864 C T CCDC109A CCDS7317.1 r.? - - intronic 29 0 0 23 8 34.8 36 8 22.2 48 26 54.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.210823529 2.210823529 1 1.087734513 1.087734513 1 1.165086614 1.165086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.79E-13 1 1.04E-11 1 3.67E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 74758415 C T - - - - - - 24 0 0 24 4 16.7 20 9 45 28 12 42.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 2.204867257 2.204867257 1 0.922181102 0.922181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000613 1 3.12E-16 1 6.9E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 74920397 C A ECD CCDS7321.1 r.? - - intronic 36 0 0 28 7 25 23 5 21.7 55 32 58.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.588235294 1.588235294 1 1.063235988 1.063235988 1 1.251070866 1.251070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.44E-11 1 9.75E-08 1 3.89E-59 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 77630485 A T C10orf11 CCDS7351.1 r.? - - intronic 35 0 0 35 8 22.9 29 7 24.1 47 23 48.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.454823529 1.454823529 1 1.180828909 1.180828909 1 1.05115748 1.05115748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.15E-12 1 1.11E-10 1 1.71E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 77669364 T C C10orf11 CCDS7351.1 r.? - - intronic 28 0 0 40 4 10 29 8 27.6 54 30 55.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.635294118 0.635294118 1 1.352318584 1.352318584 1 1.195181102 1.195181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000495 1 1.53E-12 1 1.16E-54 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 77897203 C T C10orf11 CCDS7351.1 r.? - - intronic 42 0 0 35 7 20 39 9 23.1 36 14 38.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.270588235 1.270588235 1 1.131831858 1.131831858 1 0.83619685 0.83619685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.65E-10 1 3.62E-13 1 2.09E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 78332061 G T - - - - - - 25 0 0 22 6 27.3 35 4 11.4 39 14 35.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.734352941 1.734352941 1 0.558566372 0.558566372 1 0.771708661 0.771708661 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.09E-09 1 0.0000289 1 8.19E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 83962354 C T NRG3 CCDS31233.1 r.? - - intronic 30 0 0 28 5 17.9 32 2 6.2 42 21 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.137176471 1.137176471 1 0.303781711 0.303781711 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000279 1 0.011224977 1 2.32E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 87530213 C T GRID1 CCDS31236.1 r.? - - intronic 29 0 0 35 5 14.3 33 5 15.2 71 32 45.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 0.744755162 0.744755162 1 0.969472441 0.969472441 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000895 1 0.00000066 1 3.05E-54 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 88284567 G T WAPAL CCDS7375.1 r.? - - upstream 24 0 0 33 5 15.2 26 7 26.9 47 20 42.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.965647059 0.965647059 1 1.318020649 1.318020649 1 0.915732283 0.915732283 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 4.73E-11 1 8.18E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 88509134 T G - - - - - - 27 0 0 25 4 16 19 3 15.8 42 18 42.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.016470588 1.016470588 1 0.774153392 0.774153392 1 0.922181102 0.922181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000727 1 0.000114071 1 1.2E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 89821736 C G - - - - - - 23 0 0 15 4 26.7 36 5 13.9 39 17 43.6 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 TRUE FALSE 1.696235294 1.696235294 1 0.681058997 0.681058997 1 0.937228346 0.937228346 1 NA NA 1 NA NA 1 0 0 1 9 NA 1 1 0.000000816 1 0.00000104 1 3.51E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 91190227 T A SLC16A12 CCDS7404.1 r.4446a>u c.? p.? 3'UTR variant 32 0 0 30 4 13.3 34 11 32.4 56 30 53.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.844941176 0.844941176 1 1.587504425 1.587504425 1 1.152188976 1.152188976 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000154 1 1.26E-17 1 5.46E-54 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 96191403 A C TBC1D12 CCDS41553.1 r.? - - intronic 32 0 0 32 3 9.4 37 8 21.6 40 22 55 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.597176471 0.597176471 1 1.058336283 1.058336283 1 1.182283465 1.182283465 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000556213 1 1.33E-11 1 2.48E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 96824126 G A CYP2C8 CCDS7438.1 r.? - - intronic 24 0 0 23 6 26.1 19 2 10.5 59 32 54.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.658117647 1.658117647 1 0.514469027 0.514469027 1 1.165086614 1.165086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.47E-09 1 0.004039874 1 9.88E-58 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 96824151 G C CYP2C8 CCDS7438.1 r.? - - intronic 30 0 0 27 6 22.2 17 3 17.6 48 27 56.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.410352941 1.410352941 1 0.862348083 0.862348083 1 1.20807874 1.20807874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.23E-09 1 0.0000807 1 1.5E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 97528038 C T ENTPD1 CCDS7444.1 r.? - - intronic 23 0 0 42 6 14.3 33 6 18.2 46 18 39.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 0.891746313 0.891746313 1 0.840496063 0.840496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.02E-08 1 1.54E-08 1 9.41E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 97800223 T G CCNJ CCDS44462.1 r.? - - upstream 22 0 0 28 7 25 20 7 35 42 19 45.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.588235294 1.588235294 1 1.714896755 1.714896755 1 0.971622047 0.971622047 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.44E-11 1 5.72E-12 1 7.64E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 100122792 C T - - - - - - 19 0 0 29 5 17.2 20 7 35 44 16 36.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.092705882 1.092705882 1 1.714896755 1.714896755 1 0.782456693 0.782456693 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000336 1 5.72E-12 1 5.57E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 100303520 C G HPSE2 CCDS7477.1 r.? - - intronic 32 0 0 18 3 16.7 27 6 22.2 48 28 58.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 1.087734513 1.087734513 1 1.253220472 1.253220472 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000964 1 4.23E-09 1 5.66E-52 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 168177533 C T - - - - - - 19 0 0 16 4 25 4 0 0 38 17 44.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.088235294 2.088235294 1 0 0 1 1.776331736 0.973711164 1.824290202 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000108 1 1 1 1.99E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 119149241 C G CBL CCDS8418.1 r.1387c>g c.1249C>G p.P417A missense 39 0 0 48 9 18.8 47 4 8.5 67 23 34.3 123 0 0 109 8 7.3 217 14 6.5 5.77E-08 266 98 36.8 TRUE TRUE 1.34366379 1.34366379 1 0.501474926 0.501474926 1 1.080314961 1.080314961 1 0.521741791 0.656934558 0.794206645 0.383480826 0.383480826 1 1.159055118 1.159055118 1 9 9 1 1 2.75E-12 9.48E-08 0.0000939 9.08E-12 5.12E-36 7.38E-152 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 10 102611405 A G - - - - - - 31 0 0 26 5 19.2 32 8 25 39 24 61.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.219764706 1.219764706 1 1.224926254 1.224926254 1 1.322007874 1.322007874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000188 1 3.69E-12 1 1.39E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 104665906 A C AS3MT CCDS41567.1 r.? - - downstream 15 0 0 11 4 36.4 13 6 46.2 23 12 52.2 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.312470588 2.312470588 1 2.263663717 2.263663717 1 1.122094488 1.122094488 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000201 1 2.6E-11 1 3.14E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 105909468 C G C10orf79 CCDS31281.1 r.? - - intronic 28 0 0 29 4 13.8 45 11 24.4 51 20 39.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.876705882 0.876705882 1 1.195528024 1.195528024 1 0.842645669 0.842645669 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000134 1 4.24E-16 1 6.38E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 107507813 T A - - - - - - 30 0 0 31 3 9.7 38 13 34.2 46 16 34.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.616235294 0.616235294 1 1.675699115 1.675699115 1 0.748062992 0.748062992 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000505952 1 5.88E-21 1 1.31E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 109349654 T C - - - - - - 36 0 0 25 5 20 29 4 13.8 60 28 46.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.270588235 1.270588235 1 0.676159292 0.676159292 1 1.003866142 1.003866142 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000153 1 0.0000134 1 3.31E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 110750484 A G - - - - - - 22 0 0 31 4 12.9 28 6 21.4 39 14 35.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.819529412 0.819529412 1 1.048536873 1.048536873 1 0.771708661 0.771708661 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000177 1 5.36E-09 1 8.19E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 111560243 G A - - - - - - 40 0 0 27 5 18.5 19 5 26.3 33 16 48.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.175294118 1.175294118 1 1.288622419 1.288622419 1 1.042559055 1.042559055 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000023 1 3.43E-08 1 1.64E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 113506160 G C - - - - - - 34 0 0 25 3 12 45 13 28.9 49 26 53.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.762352941 0.762352941 1 1.416014749 1.416014749 1 1.141440945 1.141440945 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00026475 1 7.68E-20 1 7.78E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 115078497 C T - - - - - - 19 0 0 35 6 17.1 30 9 30 47 30 63.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.086352941 1.086352941 1 1.469911504 1.469911504 1 1.371448819 1.371448819 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-08 1 2.54E-14 1 2.35E-57 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 118133404 A C C10orf96 CCDS31291.1 r.? - - intronic 27 0 0 30 5 16.7 35 2 5.7 48 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 0.279283186 0.279283186 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.000000401 1 0.013332991 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 118643595 G C KIAA1598 CCDS44482.1 r.? - - downstream 31 0 0 31 9 29 36 4 11.1 46 21 45.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.842352941 1.842352941 1 0.543867257 0.543867257 1 0.982370079 0.982370079 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.57E-14 1 0.0000324 1 2.94E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 118714031 A T KIAA1598 CCDS44482.1 r.? - - intronic 29 0 0 33 6 18.2 36 8 22.2 44 20 45.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.156235294 1.156235294 1 1.087734513 1.087734513 1 0.978070866 0.978070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.54E-08 1 1.04E-11 1 1.5E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 125655539 G A CPXM2 CCDS7637.1 r.? - - upstream 36 0 0 32 5 15.6 32 5 15.6 27 16 59.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.991058824 0.991058824 1 0.841306817 0.841306817 1 1.274716535 1.274716535 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000562 1 0.000000562 1 1.89E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 131918770 C T - - - - - - 21 0 0 17 4 23.5 23 7 30.4 40 18 45 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.492941176 1.492941176 1 1.639469695 1.639469695 1 0.967322835 0.967322835 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000141 1 1.79E-11 1 3.9E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 132169209 G A - - - - - - 31 0 0 26 4 15.4 16 7 43.8 32 22 68.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.978352941 0.978352941 1 2.362130679 1.581832589 1.493287403 1.478929134 1.478929134 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000856 1 8.59E-13 1 1.47E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 132491900 C T - - - - - - 32 0 0 33 4 12.1 30 6 20 45 19 42.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.768705882 0.768705882 1 1.078598483 1.078598483 1 0.907133858 0.907133858 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000228 1 8.37E-09 1 4.11E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 132925640 A G TCERG1L CCDS7662.2 r.? - - intronic 18 0 0 32 8 25 5 1 20 35 14 40 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.588235294 1.588235294 1 1.078598483 1.078598483 1 0.85984252 0.85984252 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.69E-12 1 0.024751247 1 1.28E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 135114814 C T TUBGCP2 CCDS7676.1 r.? - - intronic 25 0 0 26 9 34.6 23 3 13 43 17 39.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.198117647 2.198117647 1 0.701089014 0.701089014 1 0.849094488 0.849094488 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 5.65E-15 1 0.000205387 1 2.84E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 3410079 C A - - - - - - 27 0 0 30 4 13.3 34 2 5.9 43 1 2.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.844941176 0.844941176 1 0.302586266 0.302586266 1 0.049440945 0.049440945 1 NA NA 1 NA NA 0 NA NA 1 8 NA 1 1 0.0000154 1 0.012612579 1 0.193893409 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 4828005 A C MMP26 CCDS7752.1 r.? - - intronic 31 0 0 26 3 11.5 27 4 14.8 52 26 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.730588235 0.730588235 1 0.759029954 0.759029954 1 1.07480315 1.07480315 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000298167 1 0.00001 1 6.52E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 199874438 G A - - - - - - 15 0 0 30 1 3.3 12 0 0 53 9 17 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.275647059 0.275647059 1 0 0 1 0.79440244 0.79440244 1 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 0.139615808 1 1 1 7.1E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 8328743 T C - - - - - - 28 0 0 34 6 17.6 24 3 12.5 57 24 42.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.294117647 1.294117647 1 0.737463127 0.737463127 1 1.325984252 1.325984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.86E-08 1 0.000233853 1 3.83E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 8805264 T G ST5 CCDS7791.1 r.? - - intronic 37 0 0 45 9 20 49 8 16.3 81 25 30.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 0.961651917 0.961651917 1 0.973228346 0.973228346 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.47E-12 1 1.47E-10 1 1.2E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 11091516 G C - - - - - - 35 0 0 34 7 20.6 28 5 17.9 61 27 44.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.514705882 1.514705882 1 1.056047198 1.056047198 1 1.395275591 0.697637795 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.73E-10 1 0.000000279 1 9.98E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 11524063 A G GALNTL4 CCDS7807.1 r.? - - intronic 23 0 0 36 12 33.3 33 10 30.3 58 41 70.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.448529412 1.224264706 2 1.787610619 0.89380531 2 2.226771654 1.113385827 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.73E-19 1 8.14E-16 1 8.27E-81 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 14352936 G A RRAS2 CCDS7814.1 r.? - - intronic 37 0 0 39 5 12.8 28 7 25 69 24 34.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.941176471 0.941176471 1 1.474926254 1.474926254 1 1.096062992 1.096062992 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000156 1 8.44E-11 1 1.11E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 14589892 T C PSMA1 CCDS31431.1 r.? - - intronic 46 0 0 32 4 12.5 48 6 12.5 79 26 32.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 0.737463127 0.737463127 1 1.036220472 1.036220472 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 0.00000016 1 5.99E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 15750610 A G - - - - - - 39 0 0 33 8 24.2 30 12 40 61 47 77 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.779411765 1.779411765 1 2.359882006 1.179941003 2 2.42519685 1.212598425 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.85E-12 1 1.94E-20 1 1.49E-95 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 16320529 G C SOX6 CCDS7821.1 r.? - - intronic 32 0 0 33 9 27.3 42 5 11.9 59 17 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.007352941 1.003676471 2 0.702064897 0.702064897 1 0.907086614 0.907086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.76E-14 1 0.00000228 1 1.74E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 17690132 C T - - - - - - 41 0 0 37 12 32.4 48 20 41.7 67 43 64.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.382352941 1.191176471 2 2.460176991 1.230088496 2 2.022047244 1.011023622 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.03E-19 1 1.4E-33 1 9.83E-82 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 18865306 A C - - - - - - 31 0 0 33 4 12.1 45 10 22.2 85 19 22.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.010705882 1.010705882 1 1.531734513 1.531734513 1 0.929511811 0.929511811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 2.66E-14 1 5.93E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 18998759 T C MRGPRX1 ENST00000412783 r.? - - upstream 27 0 0 42 6 14.3 50 8 16 95 18 18.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.194470588 1.194470588 1 1.103952802 1.103952802 1 0.784275591 0.784275591 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.02E-08 1 1.74E-10 1 2.94E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 20462224 T G PRMT3 CCDS7853.1 r.? - - intronic 24 0 0 39 5 12.8 29 5 17.2 61 12 19.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.069176471 1.069176471 1 1.186749263 1.186749263 1 0.817472441 0.817472441 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000156 1 0.000000336 1 3.39E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 21089771 T G NELL1 CCDS7855.1 r.? - - intronic 25 0 0 32 5 15.6 27 4 14.8 78 26 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.303058824 1.303058824 1 1.021156342 1.021156342 1 1.381818898 0.690909449 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 0.00001 1 4.04E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 21630929 A G - - - - - - 35 0 0 34 4 11.8 33 0 0 75 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.985647059 0.985647059 1 0 0 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.0000257 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 21965158 C A - - - - - - 40 0 0 40 5 12.5 21 4 19 59 11 18.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.044117647 1.044117647 1 1.310943953 1.310943953 1 0.771826772 0.771826772 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000178 1 0.00000349 1 1.1E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 22679495 A G - - - - - - 34 0 0 38 9 23.7 38 6 15.8 72 16 22.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.979647059 0.989823529 2 1.090153392 1.090153392 1 0.921212598 0.921212598 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.79E-13 1 3.76E-08 1 4.82E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 23093977 A G - - - - - - 32 0 0 39 5 12.8 29 3 10.3 78 22 28.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.069176471 1.069176471 1 0.710669617 0.710669617 1 1.170188976 1.170188976 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000156 1 0.000414371 1 2.58E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 23215304 A G - - - - - - 25 0 0 25 5 20 37 6 16.2 48 15 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.670588235 1.670588235 1 1.117752212 1.117752212 1 1.294677165 1.294677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000153 1 3.18E-08 1 2.86E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 23218491 G T - - - - - - 28 0 0 43 4 9.3 39 4 10.3 103 22 21.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.776823529 0.776823529 1 0.710669617 0.710669617 1 0.888015748 0.888015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000066 1 0.0000447 1 2.46E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 23242002 G A - - - - - - 37 0 0 42 6 14.3 35 5 14.3 89 14 15.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.194470588 1.194470588 1 0.986657817 0.986657817 1 0.651488189 0.651488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.02E-08 1 0.000000895 1 3.28E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 23973346 C T - - - - - - 38 0 0 47 5 10.6 41 8 19.5 80 17 21.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.885411765 0.885411765 1 1.345442478 1.345442478 1 0.879716535 0.879716535 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000402 1 3.22E-11 1 5.75E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 209814382 C T LAMB3 CCDS1487.1 r.? - - intronic 26 0 0 42 7 16.7 19 1 5.3 82 11 13.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.394941176 1.394941176 1 0.378256684 0.378256684 1 0.626176041 0.626176041 1 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 1.81E-09 1 0.090843738 1 4.94E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 25698985 G A - - - - - - 24 0 0 32 5 15.6 38 6 15.8 91 21 23.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.303058824 1.303058824 1 1.090153392 1.090153392 1 0.958559055 0.958559055 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 3.76E-08 1 7.54E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 27232348 C G - - - - - - 37 0 0 36 4 11.1 36 4 11.1 88 20 22.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.927176471 0.927176471 1 0.765867257 0.765867257 1 0.94196063 0.94196063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000324 1 0.0000324 1 2.12E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 27998774 C G - - - - - - 35 0 0 37 4 10.8 56 9 16.1 95 20 21.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.902117647 0.902117647 1 1.110852507 1.110852507 1 0.875566929 0.875566929 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000362 1 1.2E-11 1 1.14E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 28170405 A T METT5D1 CCDS31450.1 r.? - - intronic 44 0 0 32 3 9.4 34 0 0 73 0 0 0 0 NA 0 0 NA 2 0 0 1 0 0 NA TRUE FALSE 0.785176471 0.785176471 1 0 0 1 0 0 1 NA NA 1 0 0 1 NA NA 1 8 NA 1 1 0.000556213 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 28617790 G T - - - - - - 29 0 0 36 5 13.9 26 2 7.7 72 15 20.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.161058824 1.161058824 1 0.531277286 0.531277286 1 0.86311811 0.86311811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000104 1 0.007502227 1 2.7E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 29839499 G C - - - - - - 20 0 0 31 6 19.4 27 8 29.6 78 42 53.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.620470588 1.620470588 1 2.042312684 1.021156342 2 2.232488189 1.116244094 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.03E-08 1 7.97E-13 1 4.13E-75 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 30183371 T C - - - - - - 39 0 0 35 7 20 50 7 14 80 15 18.8 1 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.670588235 1.670588235 1 0.965958702 0.965958702 1 0.780125984 0.780125984 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.65E-10 1 6.46E-09 1 1.49E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 30369092 C T - - - - - - 31 0 0 40 11 27.5 33 9 27.3 90 37 41.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.297058824 1.148529412 2 1.883619469 0.941809735 2 1.705488189 0.852744094 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.88E-17 1 6.76E-14 1 1.42E-60 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 36867459 A T - - - - - - 31 0 0 34 4 11.8 44 9 20.5 100 22 22 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.985647059 0.985647059 1 1.414439528 1.414439528 1 0.912913386 0.912913386 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 1.18E-12 1 1.2E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 38261733 C T - - - - - - 22 0 0 34 7 20.6 27 6 22.2 67 15 22.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.720705882 1.720705882 1 1.531734513 1.531734513 1 0.929511811 0.929511811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.73E-10 1 4.23E-09 1 8.27E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 38375574 G T - - - - - - 34 0 0 34 5 14.7 36 3 8.3 84 23 27.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227882353 1.227882353 1 0.572675516 0.572675516 1 1.136992126 1.136992126 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000771 1 0.000788827 1 2.25E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 38610975 C T - - - - - - 29 0 0 51 7 13.7 48 9 18.8 76 20 26.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.144352941 1.144352941 1 1.297144543 1.297144543 1 1.091346457 1.091346457 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.46E-09 1 2.75E-12 1 7.96E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 38754244 C T - - - - - - 26 0 0 33 5 15.2 48 2 4.2 81 20 24.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.269647059 1.269647059 1 0.289787611 0.289787611 1 1.024952756 1.024952756 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 0.024220359 1 3.35E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 39467278 C A - - - - - - 30 0 0 39 4 10.3 46 4 8.7 102 27 26.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.860352941 0.860352941 1 0.600274336 0.600274336 1 1.099645669 1.099645669 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000447 1 0.0000862 1 1.85E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 39721967 G T - - - - - - 29 0 0 40 5 12.5 39 4 10.3 88 25 28.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.044117647 1.044117647 1 0.710669617 0.710669617 1 1.178488189 1.178488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000178 1 0.0000447 1 1.33E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 39758276 C G - - - - - - 30 0 0 28 9 32.1 29 10 34.5 71 31 43.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.681294118 1.340647059 2 2.38039823 1.190199115 2 1.813377953 0.906688976 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.24E-14 1 1.79E-16 1 4.86E-52 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 41842971 T G - - - - - - 33 0 0 38 3 7.9 40 1 2.5 80 0 0 0 0 NA 0 0 NA 2 0 0 1 0 0 NA TRUE FALSE 0.659882353 0.659882353 1 0.172492625 0.172492625 1 0 0 1 NA NA 1 0 0 1 NA NA 1 8 NA 1 1 0.000925091 1 0.181679879 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 41845353 C T - - - - - - 32 0 0 38 5 13.2 53 5 9.4 70 15 21.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.102588235 1.102588235 1 0.648572271 0.648572271 1 0.888015748 0.888015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000137 1 0.00000734 1 1.7E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 42277816 A G - - - - - - 37 0 0 43 9 20.9 39 8 20.5 100 19 19 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.745764706 1.745764706 1 1.414439528 1.414439528 1 0.788425197 0.788425197 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.45E-13 1 2.09E-11 1 1.72E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 42286342 A G - - - - - - 33 0 0 39 4 10.3 30 2 6.7 80 23 28.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.860352941 0.860352941 1 0.462280236 0.462280236 1 1.190937008 1.190937008 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000447 1 0.009909649 1 6.19E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 42321384 T A - - - - - - 27 0 0 32 5 15.6 28 3 10.7 73 17 23.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.303058824 1.303058824 1 0.738268437 0.738268437 1 0.966858268 0.966858268 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 0.000372895 1 1.03E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 42376380 A T - - - - - - 37 0 0 38 5 13.2 43 5 11.6 71 16 22.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.102588235 1.102588235 1 0.800365782 0.800365782 1 0.933661417 0.933661417 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000137 1 0.00000257 1 3.77E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 42487889 C A - - - - - - 45 0 0 39 5 12.8 39 2 5.1 92 19 20.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.069176471 1.069176471 1 0.351884956 0.351884956 1 0.858968504 0.858968504 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000156 1 0.016387522 1 3.08E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 42965916 G T - - - - - - 18 0 0 26 4 15.4 19 7 36.8 48 30 62.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.286352941 1.286352941 1 2.539091445 1.269545723 2 2.593503937 1.296751969 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000856 1 3.73E-12 1 6.24E-57 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 43072112 A G - - - - - - 39 0 0 41 4 9.8 49 5 10.2 88 20 22.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.818588235 0.818588235 1 0.703769912 0.703769912 1 0.94196063 0.94196063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000546 1 0.00000496 1 2.12E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 44207461 T C EXT2 CCDS7908.1 r.? - - intronic 38 0 0 34 6 17.6 58 11 19 95 19 20 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470117647 1.470117647 1 1.310943953 1.310943953 1 0.82992126 0.82992126 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.86E-08 1 8.96E-15 1 5.98E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 44395436 G A - - - - - - 32 0 0 40 8 20 50 15 30 105 55 52.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.670588235 1.670588235 1 2.069911504 1.034955752 2 2.174393701 1.08719685 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.61E-11 1 5.83E-23 1 6.08E-97 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 44450736 G A - - - - - - 33 0 0 36 5 13.9 32 7 21.9 93 20 21.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.022058824 1.022058824 1 1.511035398 1.511035398 1 0.892165354 0.892165354 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00000104 1 2.36E-10 1 7.16E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 45342505 C T - - - - - - 20 0 0 32 5 15.6 26 5 19.2 72 23 31.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.147058824 1.147058824 1 1.132743363 1.132743363 1 1.004724409 1.004724409 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 0.000000188 1 3.67E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 46318722 G C CREB3L1 ENST00000288400 r.? - - intronic 32 0 0 21 4 19 0 0 NA 45 15 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.397058824 1.397058824 1 NA NA 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 0.00000349 1 1 1 9.14E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 46329107 T G CREB3L1 ENST00000288400 r.? - - intronic 19 0 0 29 4 13.8 29 8 27.6 67 23 34.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.014705882 1.014705882 1 1.628318584 1.628318584 1 1.080314961 1.080314961 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000134 1 1.53E-12 1 5.12E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 46794085 G T CKAP5 CCDS31477.1 r.? - - intronic 32 0 0 35 4 11.4 32 5 15.6 60 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838235294 0.838235294 1 0.920353982 0.920353982 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.0000289 1 0.000000562 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 197530295 G A CCDC150 CCDS46478.1 r.785g>a c.650G>A p.R217K missense 29 0 0 41 4 9.8 35 5 14.3 59 20 33.9 192 0 0 78 12 15.4 147 27 18.4 7.42E-26 156 60 38.5 TRUE TRUE 0.720588235 0.720588235 1 0.843657817 0.843657817 1 1.067716535 1.067716535 1 1.132352941 1.132352941 1 1.085545723 1.085545723 1 1.212598425 1.212598425 1 9 12 1 1 0.0000546 7.82E-15 0.000000895 9.89E-34 2.21E-31 4.89E-95 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 11 48256838 T C - - - - - - 36 0 0 48 9 18.8 35 6 17.1 87 23 26.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.382352941 1.382352941 1 1.008849558 1.008849558 1 0.831496063 0.831496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.75E-12 1 2.24E-08 1 5.63E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 48676627 T A - - - - - - 27 0 0 32 6 18.8 36 7 19.4 68 26 38.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.382352941 1.382352941 1 1.144542773 1.144542773 1 1.203149606 1.203149606 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.27E-08 1 5.74E-10 1 5.33E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 50201703 T G ENSG00000236919 ENST00000435540 r.? - - downstream 28 0 0 29 5 17.2 21 5 23.8 61 17 27.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.264705882 1.264705882 1 1.404129794 1.404129794 1 0.878740157 0.878740157 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000336 1 5.95E-08 1 3.33E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 50397699 G A - - - - - - 27 0 0 35 8 22.9 35 5 14.3 65 25 38.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.683823529 1.683823529 1 0.843657817 0.843657817 1 1.212598425 1.212598425 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.15E-12 1 0.000000895 1 1.6E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 51435284 G C - - - - - - 38 0 0 40 7 17.5 30 6 20 45 22 48.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.111764706 1.111764706 1 0.979941003 0.979941003 1 1.05115748 1.05115748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.26E-09 1 8.37E-09 1 8.79E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 55907504 G T OR8J3 CCDS31520.1 r.? - - upstream 37 0 0 34 5 14.7 33 9 27.3 44 21 47.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.933882353 0.933882353 1 1.337619469 1.337619469 1 1.025362205 1.025362205 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000771 1 6.76E-14 1 8.6E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 56213759 G A ENSG00000230416 ENST00000415874 r.? - - upstream 27 0 0 24 5 20.8 27 3 11.1 55 22 40 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.321411765 1.321411765 1 0.543867257 0.543867257 1 0.85984252 0.85984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000123 1 0.000334187 1 2.65E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 65206405 A G - - - - - - 33 0 0 40 7 17.5 45 4 8.9 113 31 27.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.111764706 1.111764706 1 0.436073746 0.436073746 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 1.26E-09 1 0.0000791 1 1.79E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 70384209 A C SHANK2 ENST00000338508 r.? - - intronic 24 0 0 36 4 11.1 6 0 0 77 13 16.9 132 1 0.8 15 2 13.3 53 7 13.2 1.03E-06 60 7 11.7 FALSE TRUE 1.038176471 1.038176471 1 0 NA 0 0.840995348 0.840995348 1 1.243941176 1.243941176 1 0.646761062 0.646761062 1 0.582227549 0.582227549 1 NA 11 1 0.484003616 0.0000324 0.002513772 1 9.85E-09 1.67E-16 2.39E-08 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 70613031 T C SHANK2 ENST00000338508 r.? - - intronic 25 0 0 35 4 11.4 23 2 8.7 104 28 26.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.066235294 1.066235294 1 0.426274336 0.426274336 1 1.338625732 1.338625732 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.0000289 1 0.00589844 1 4.62E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 71822943 G C LRTOMT CCDS44668.1 r.? - - downstream 38 0 0 39 4 10.3 40 4 10 113 33 29.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.963352941 0.963352941 1 0.489970501 0.489970501 1 1.45308072 0.795468703 1.826697537 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.0000447 1 0.0000495 1 2.83E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 71918873 A C - - - - - - 29 0 0 45 17 37.8 43 12 27.9 83 46 55.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.535411765 1.178470588 3 1.367017699 1.367017699 1 2.756872326 0.975297954 2.826697537 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 7.37E-28 1 3.24E-18 1 6.17E-83 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 72968848 C T - - - - - - 31 0 0 37 19 51.4 7 4 57.1 114 71 62.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 4.807411765 1.602470588 3 2.797731563 2.797731563 1 3.10023729 1.096770082 2.826697537 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 3.09E-34 1 2.16E-08 1 1.7E-132 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 72983601 C T P2RY6 CCDS8220.1 r.? - - intronic 27 0 0 47 19 40.4 8 3 37.5 84 51 60.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.778588235 1.259529412 3 1.837389381 1.837389381 1 3.020616429 1.068602632 2.826697537 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 1.16E-31 1 0.00000687 1 9.29E-95 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 78256073 A G NARS2 CCDS8261.1 r.? - - intronic 36 0 0 29 14 48.3 32 16 50 100 56 56 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 4.517470588 1.505823529 3 2.449852507 2.449852507 1 2.786730149 0.985860748 2.826697537 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 4.41E-25 1 8.51E-29 1 5.52E-101 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 78561197 C T ODZ4 CCDS44688.1 r.? - - intronic 36 0 0 46 20 43.5 54 23 42.6 95 52 54.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 4.068529412 1.356176471 3 2.087274336 2.087274336 1 2.722038199 0.962974695 2.826697537 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 4.72E-34 1 1.12E-38 1 3.81E-93 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 78680417 C T ODZ4 CCDS44688.1 r.? - - intronic 31 0 0 39 6 15.4 45 3 6.7 113 21 18.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.440352941 1.440352941 1 0.328280236 0.328280236 1 0.925592514 0.925592514 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 4.43E-08 1 0.001516071 1 1.08E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 80689061 A G - - - - - - 33 0 0 34 7 20.6 35 13 37.1 111 69 62.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.514705882 1.514705882 1 1.81779056 1.81779056 1 NA NA 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 3.73E-10 1 1.63E-21 1 1.01E-128 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 80790790 T C - - - - - - 34 0 0 53 7 13.2 49 15 30.6 101 35 34.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.970588235 0.970588235 1 1.499309735 1.499309735 1 NA NA 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 9.85E-09 1 4.1E-23 1 3.54E-54 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 81133520 C G - - - - - - 32 0 0 37 6 16.2 46 6 13 115 15 13 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.191176471 1.191176471 1 0.636961652 0.636961652 1 NA NA 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 3.18E-08 1 0.000000123 1 4.57E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 81425780 A G - - - - - - 23 0 0 39 13 33.3 37 13 35.1 70 38 54.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 2.448529412 2.448529412 1 1.71979646 1.71979646 1 NA NA 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 8.79E-21 1 3.89E-21 1 2.71E-68 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 81439066 T C - - - - - - 34 0 0 43 7 16.3 54 13 24.1 119 43 36.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.198529412 1.198529412 1 1.180828909 1.180828909 1 NA NA 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 2.15E-09 1 1.12E-18 1 3.83E-67 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 81483149 T C - - - - - - 32 0 0 48 4 8.3 54 5 9.3 103 21 20.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.610294118 0.610294118 1 0.455672566 0.455672566 1 NA NA 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.000102016 1 0.00000806 1 1.31E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 83111742 A T - - - - - - 38 0 0 31 10 32.3 36 4 11.1 70 25 35.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 2.375 2.375 1 0.543867257 0.543867257 1 NA NA 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 3.94E-16 1 0.0000324 1 1.55E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 83313698 A T DLG2 CCDS41696.1 r.? - - intronic 24 0 0 31 3 9.7 35 3 8.6 63 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.713235294 0.713235294 1 0.421374631 0.421374631 1 NA NA 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.000505952 1 0.000725791 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 87383996 G A - - - - - - 40 0 0 44 6 13.6 49 2 4.1 81 32 39.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1 1 1 0.241887906 0.241887906 1 1.244094488 1.244094488 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 9.37E-08 1 0.025168485 1 6.65E-52 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 107310523 T G FBXL17 ENST00000359660 r.? - - intronic 33 0 0 26 4 15.4 36 0 0 41 0 0 68 0 0 132 4 3 131 0 0 1 120 0 0 TRUE TRUE 0.978352941 0.978352941 1 0 0 1 0 0 1 0.190588235 0.190588235 1 0 0 1 0 0 1 8 6 1 1 0.00000856 0.004546755 1 1 1 1 YES 1_1 0_0 0_0 somatic custom.pulldown.HiSeq PD9777b 11 88921459 G A TYR CCDS8284.1 r.? - - intronic 40 0 0 27 7 25.9 33 2 6.1 60 22 36.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.904411765 1.904411765 1 0.359882006 0.359882006 1 1.155905512 1.155905512 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.36E-11 1 0.011909843 1 2.81E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 91001298 C T - - - - - - 29 0 0 47 10 21.3 28 6 21.4 74 27 36.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.566176471 1.566176471 1 1.262536873 1.262536873 1 1.149606299 1.149606299 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.27E-14 1 5.36E-09 1 6.97E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 91441715 C G - - - - - - 35 0 0 44 10 22.7 47 8 17 65 17 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.669117647 1.669117647 1 1.002949853 1.002949853 1 0.82519685 0.82519685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.08E-14 1 1.03E-10 1 1.14E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 91644515 C G - - - - - - 30 0 0 29 3 10.3 37 2 5.4 68 22 32.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 0.318584071 0.318584071 1 1.020472441 1.020472441 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000414371 1 0.014826063 1 7.67E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 91876153 C G - - - - - - 22 0 0 32 4 12.5 39 9 23.1 56 17 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 1.362831858 1.362831858 1 0.957480315 0.957480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 3.62E-13 1 6.22E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 92454179 G A FAT3 CCDS44706.1 r.? - - intronic 22 0 0 37 6 16.2 36 6 16.7 75 17 22.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.191176471 1.191176471 1 0.985250737 0.985250737 1 0.71496063 0.71496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.18E-08 1 2.68E-08 1 1.72E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 96512644 G A - - - - - - 32 0 0 25 5 20 32 4 12.5 46 22 47.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.270588235 1.270588235 1 0.612463127 0.612463127 1 1.027511811 1.027511811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000153 1 0.0000201 1 1.68E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 98069423 G A - - - - - - 36 0 0 35 6 17.1 43 6 14 36 18 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.086352941 1.086352941 1 0.685958702 0.685958702 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-08 1 8.13E-08 1 3.18E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 100097495 A T CNTN5 ENST00000279463 r.? - - intronic 24 0 0 32 10 31.2 35 8 22.9 47 24 51.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.982117647 1.982117647 1 1.122032448 1.122032448 1 1.098448819 1.098448819 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.7E-16 1 8.15E-12 1 8.6E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 100258815 G C - - - - - - 27 0 0 37 5 13.5 34 6 17.6 69 19 27.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.857647059 0.857647059 1 1.038348083 1.038348083 1 0.866141732 0.866141732 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00000119 1 1.86E-08 1 6.95E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 104772088 G A ENSG00000235505 ENST00000412702 r.? - - downstream 27 0 0 33 4 12.1 45 4 8.9 68 20 29.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.864804886 0.864804886 1 0.525073746 0.525073746 1 0.925984252 0.925984252 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 0.0000791 1 6.23E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 104984256 G A - - - - - - 27 0 0 32 4 12.5 40 6 15 57 21 36.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.893393478 0.893393478 1 0.884955752 0.884955752 1 1.159055118 1.159055118 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 5.18E-08 1 8.56E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 106293486 C G - - - - - - 31 0 0 36 6 16.7 27 9 33.3 61 18 29.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.193573686 1.193573686 1 1.96460177 0.982300885 2 0.929133858 0.929133858 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 2.68E-08 1 8.44E-15 1 4.08E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 106442052 T G - - - - - - 27 0 0 27 4 14.8 41 1 2.4 59 15 25.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.057777878 1.057777878 1 0.14159292 0.14159292 1 0.8 0.8 1 NA NA 0 NA NA 1 NA NA 1 6 NA 1 1 0.00001 1 0.18577148 1 9.9E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 106445043 T C - - - - - - 40 0 0 48 4 8.3 33 7 21.2 68 19 27.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.593213269 0.593213269 1 1.250737463 1.250737463 1 0.878740157 0.878740157 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000102016 1 2.98E-10 1 5.06E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 106860929 C T GUCY1A2 CCDS8335.1 r.? - - intronic 22 0 0 24 4 16.7 29 6 20.7 53 18 34 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.193573686 1.193573686 1 1.221238938 1.221238938 1 1.070866142 1.070866142 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00000613 1 6.72E-09 1 2.09E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 107241856 G A CWF19L2 CCDS8336.2 r.? - - intronic 14 0 0 17 5 29.4 5 0 0 50 20 40 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.101261459 2.101261459 1 0 0 1 1.25984252 1.25984252 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 1.84E-08 1 1 1 3.9E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 107349969 A G - - - - - - 43 0 0 33 5 15.2 32 3 9.4 69 16 23.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.086366469 1.086366469 1 0.554572271 0.554572271 1 0.730708661 0.730708661 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 0.000556213 1 2.27E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 107531453 C G ELMOD1 CCDS44723.1 r.? - - intronic 35 0 0 37 8 21.6 48 6 12.5 60 17 28.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.543783929 1.543783929 1 0.737463127 0.737463127 1 0.891338583 0.891338583 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 1.33E-11 1 0.00000016 1 2.41E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 107536421 G C ELMOD1 CCDS44723.1 r.1907g>c c.? p.? 3'UTR variant 30 0 0 32 5 15.6 22 4 18.2 45 16 35.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.11495506 1.11495506 1 1.073746313 1.073746313 1 1.121259843 1.121259843 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 0.00000425 1 8.61E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 107854777 G C - - - - - - 28 0 0 34 4 11.8 39 5 12.8 73 23 31.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.843363443 0.843363443 1 0.755162242 0.755162242 1 0.992125984 0.992125984 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 0.00000156 1 5.33E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 109427050 G A - - - - - - 35 0 0 32 9 28.1 21 5 23.8 58 31 53.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.008348538 1.119351856 1.794206645 1.404129794 1.404129794 1 1.681889764 0.840944882 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 4.94E-14 1 5.95E-08 1 1.07E-55 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 110139105 T C RDX CCDS8343.1 r.? - - intronic 29 0 0 38 4 10.5 37 13 35.1 67 47 70.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.750450521 0.750450521 1 2.07079646 1.03539823 2 2.207874016 1.103937008 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000403 1 3.89E-21 1 3.73E-92 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 111387183 C A BTG4 CCDS8346.1 r.? - - upstream 26 0 0 38 9 23.7 39 17 43.6 63 40 63.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.693874034 1.693874034 1 2.572271386 1.286135693 2 2 1 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 2.79E-13 1 3.51E-29 1 7.64E-76 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 111395983 T C C11orf88 CCDS41712.1 r.? - - intronic 37 0 0 39 6 15.4 52 14 26.9 72 22 30.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.100660764 1.100660764 1 1.587020649 0.793510324 2 0.963779528 0.963779528 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 4.43E-08 1 9.04E-21 1 3.36E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 114590533 T C - - - - - - 35 0 0 37 4 10.8 13 3 23.1 72 16 22.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.771891965 0.771891965 1 1.362831858 1.362831858 1 0.699212598 0.699212598 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000362 1 0.0000344 1 4.82E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 114833775 A T - - - - - - 24 0 0 33 3 9.1 38 4 10.5 65 15 23.1 0 0 NA 0 0 NA 2 0 0 1 0 0 NA TRUE FALSE 0.650390452 0.650390452 1 0.619469027 0.619469027 1 0.727559055 0.727559055 1 NA NA 0 0 0 1 NA NA 1 9 NA 1 1 0.000609557 1 0.0000403 1 5E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 116536617 C T - - - - - - 34 0 0 39 5 12.8 34 5 14.7 75 25 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.914834921 0.914834921 1 0.867256637 0.867256637 1 1.048818898 1.048818898 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00000156 1 0.000000771 1 1.23E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 117523446 C T DSCAML1 CCDS8384.1 r.? - - intronic 20 0 0 33 6 18.2 22 3 13.6 49 23 46.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.300780903 1.300780903 1 0.802359882 0.802359882 1 1.477165354 0.738582677 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 1.54E-08 1 0.000179267 1 6.14E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 16763059 A T - - - - - - 35 0 0 36 4 11.1 32 0 0 79 0 0 74 0 0 124 4 3.2 147 1 0.7 0.77176954 160 0 0 TRUE TRUE 0.816176471 0.816176471 1 0 0 1 0 0 1 0.235294118 0.235294118 1 0.041297935 0.041297935 1 0 0 1 8 6 1 1 0.0000324 0.003642644 1 0.521377766 1 1 YES 1_1 0_0 0_0 somatic custom.pulldown.HiSeq PD9777b 1 232285914 C A - - - - - - 30 0 0 37 11 29.7 51 14 27.5 106 39 36.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.480823529 0.826941176 3 1.962652603 0.981326302 2 1.719647635 1.128859753 1.523349229 NA NA 0 NA NA 0 NA NA 0 9 NA 1 1 3.7E-17 1 6.64E-21 1 2.02E-61 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 121614181 C T - - - - - - 25 0 0 26 8 30.8 42 2 4.8 64 19 29.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.201321529 1.226905237 1.794206645 0.283185841 0.283185841 1 0.935433071 0.935433071 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 5.63E-13 1 0.018854633 1 1.34E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 121626562 A T - - - - - - 29 0 0 33 5 15.2 36 3 8.3 54 21 38.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.086366469 1.086366469 1 0.489675516 0.489675516 1 1.22519685 1.22519685 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 0.000788827 1 2.12E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 121836244 G A - - - - - - 37 0 0 31 12 38.7 24 6 25 64 34 53.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.765946207 1.541598464 1.794206645 1.474926254 1.474926254 1 1.672440945 0.836220472 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 3.16E-20 1 1.95E-09 1 8.15E-61 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 121922820 T G - - - - - - 39 0 0 34 8 23.5 38 4 10.5 55 18 32.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.679579738 1.679579738 1 0.619469027 0.619469027 1 1.02992126 1.02992126 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 6.32E-12 1 0.0000403 1 4.61E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 122048782 T G - - - - - - 35 0 0 43 4 9.3 36 9 25 75 17 22.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.664684747 0.664684747 1 1.474926254 1.474926254 1 0.71496063 0.71496063 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000066 1 1.63E-13 1 1.72E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 123886026 G C OR10G8 CCDS31702.1 r.? - - upstream 41 0 0 38 5 13.2 30 4 13.3 65 19 29.2 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 0.943423512 0.943423512 1 0.784660767 0.784660767 1 0.919685039 0.919685039 1 NA NA 0 0 0 1 NA NA 1 9 NA 1 1 0.00000137 1 0.0000154 1 1.89E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 124873207 C A CCDC15 CCDS44756.1 r.? - - intronic 33 0 0 33 7 21.2 41 17 41.5 67 48 71.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.515195338 1.515195338 1 2.448377581 1.224188791 2 2.25511811 1.127559055 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 2.98E-10 1 1.03E-28 1 7.82E-95 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 126273949 A T ST3GAL4 CCDS8474.1 r.? - - intronic 30 0 0 43 5 11.6 36 9 25 82 34 41.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.829069147 0.829069147 1 1.474926254 1.474926254 1 1.307086614 1.307086614 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00000257 1 1.63E-13 1 5.98E-56 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 127308586 C T - - - - - - 36 0 0 39 6 15.4 32 8 25 58 21 36.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.100660764 1.100660764 1 1.474926254 1.474926254 1 1.14015748 1.14015748 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 4.43E-08 1 3.69E-12 1 1.34E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 128689355 C T - - - - - - 23 0 0 26 7 26.9 7 2 28.6 58 37 63.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.922582764 1.922582764 1 1.687315634 1.687315634 1 2.009448819 1.004724409 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 4.73E-11 1 0.000516315 1 2.2E-70 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 129473402 A C - - - - - - 27 0 0 30 4 13.3 33 5 15.2 63 14 22.2 0 0 NA 1 1 100 0 0 NA 1 0 0 NA TRUE FALSE 0.95057066 0.95057066 1 0.896755162 0.896755162 1 0.699212598 0.699212598 1 7.147147821 7.147147821 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000154 0.005 0.00000066 1 1.81E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 130612137 C G - - - - - - 33 0 0 31 4 12.9 32 1 3.1 77 24 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.921982069 0.921982069 1 0.182890855 0.182890855 1 0.982677165 0.982677165 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000177 1 0.14819814 1 2.53E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 131742431 C G OPCML CCDS41733.1 r.? - - intronic 41 0 0 23 3 13 43 7 16.3 64 25 39.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.929129217 0.929129217 1 0.961651917 0.961651917 1 1.231496063 1.231496063 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000205387 1 2.15E-09 1 9.9E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 131957853 C T OPCML CCDS8491.1 r.? - - intronic 30 0 0 38 6 15.8 13 1 7.7 46 15 32.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.129249356 1.129249356 1 0.454277286 0.454277286 1 1.026771654 1.026771654 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 3.76E-08 1 0.063085307 1 1.35E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 134818877 G T - - - - - - 36 0 0 35 5 14.3 38 7 18.4 61 36 59 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.022042138 1.022042138 1 1.085545723 1.085545723 1 1.858267717 0.929133858 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000000895 1 8.61E-10 1 1.13E-66 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 669581 G A B4GALNT3 CCDS8504.1 r.? - - intronic 35 0 0 53 7 13.2 32 5 15.6 137 24 17.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.366588235 1.366588235 1 1.124319894 1.124319894 1 1.076181102 1.076181102 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 9.85E-09 1 0.000000562 1 1.25E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 1032968 C T RAD52 CCDS8507.2 r.? - - intronic 34 0 0 52 6 11.5 28 3 10.7 142 28 19.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.190588235 1.190588235 1 0.771168133 0.771168133 1 1.211472441 1.211472441 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000261 1 0.000372895 1 7.46E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 1554857 A T ERC1 CCDS8508.1 r.? - - intronic 33 0 0 50 5 10 36 2 5.6 127 28 22 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.035294118 1.035294118 1 0.403602013 0.403602013 1 1.352913386 1.352913386 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000549 1 0.014070883 1 2.44E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 1777372 C T - - - - - - 29 0 0 40 5 12.5 51 3 5.9 122 12 9.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.294117647 1.294117647 1 0.42522355 0.42522355 1 0.602661417 0.602661417 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000178 1 0.002175924 1 1.91E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 87588189 G C CNGB3 CCDS6244.1 r.2319c>g c.2273C>G p.A758G missense 30 0 0 37 1 2.7 48 7 14.6 68 15 22.1 72 0 0 286 31 10.8 314 34 10.8 2.72E-24 422 95 22.5 TRUE TRUE 0.225529412 0.225529412 1 1.007356932 1.007356932 1 0.946463875 0.946463875 1 0.902117647 0.902117647 1 0.745168142 0.745168142 1 0.963594443 0.963594443 1 9 11 1 1 0.169281299 4.27E-31 4.81E-09 6.22E-34 1.06E-20 1.28E-123 YES 0_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 12 2085229 T G DCP1B CCDS31727.1 r.? - - intronic 23 0 0 45 18 40 59 28 47.5 144 100 69.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 4.141176471 1.035294118 4 3.423409935 1.141136645 3 4.267826772 1.066956693 4 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 5.76E-30 1 1.77E-48 1 1.42E-193 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 3061624 T A - - - - - - 38 0 0 52 11 21.2 39 4 10.3 151 31 20.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.194823529 1.097411765 2 0.742339417 0.742339417 1 1.260669291 1.260669291 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.44E-15 1 0.0000447 1 4.08E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 4771638 G C NDUFA9 CCDS8532.1 r.? - - intronic 31 0 0 46 5 10.9 64 7 10.9 136 22 16.2 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 1.128470588 1.128470588 1 0.78558249 0.78558249 1 0.99623622 0.99623622 1 NA NA 1 0 NA 0 NA NA 1 9 NA 1 1 0.00000361 1 3.78E-08 1 1.77E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 8498605 G A - - - - - - 34 0 0 52 5 9.6 43 3 7 132 17 12.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.993882353 0.993882353 1 0.504502517 0.504502517 1 0.793299213 0.793299213 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000668 1 0.001328364 1 4.76E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 8546132 C T - - - - - - 76 0 0 76 5 6.6 96 11 11.5 190 17 8.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.683294118 0.683294118 1 0.828825563 0.828825563 1 0.547314961 0.547314961 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000043 1 2.92E-12 1 2.48E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 8735353 A T - - - - - - 23 0 0 42 7 16.7 54 2 3.7 148 0 0 0 0 NA 0 0 NA 0 0 NA 1 1 0 0 TRUE FALSE 1.728941176 1.728941176 1 0.266665616 0.867279162 0.307473796 0 0 1 NA NA 1 NA NA 0 0 0 1 7 NA 1 1 1.81E-09 1 0.030129377 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 9378337 T C - - - - - - 24 0 0 55 8 14.5 60 6 10 125 15 12 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.501176471 1.501176471 1 0.720717881 0.720717881 1 0.737952756 0.737952756 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.86E-10 1 0.000000621 1 1.65E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 9408791 T G - - - - - - 41 0 0 55 7 12.7 68 7 10.3 129 24 18.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.314823529 1.314823529 1 0.742339417 0.742339417 1 1.143826772 1.143826772 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.28E-08 1 0.000000058 1 2.67E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 11476903 G C - - - - - - 32 0 0 47 4 8.5 52 3 5.8 119 22 18.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.88 0.88 1 0.418016371 0.418016371 1 1.137677165 1.137677165 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000939 1 0.002300591 1 7.72E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 11593887 C T - - - - - - 31 0 0 66 6 9.1 62 8 12.9 130 18 13.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.942117647 0.942117647 1 0.929726067 0.929726067 1 0.848645669 0.848645669 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000011 1 1.04E-09 1 1.15E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 12045472 T A ETV6 CCDS8643.1 r.3125u>a c.? p.? 3'UTR variant 25 0 0 38 6 15.8 42 3 7.1 126 32 25.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.319764706 1.319764706 1 0.489879056 0.489879056 1 1.054 1.054 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.76E-08 1 0.001240292 1 1.22E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 14751318 C A - - - - - - 37 0 0 39 7 17.9 54 2 3.7 91 23 25.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.495176471 1.495176471 1 0.255289086 0.255289086 1 1.049850394 1.049850394 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.04E-09 1 0.030129377 1 1.81E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 14854268 C G GUCY2C CCDS8664.1 r.? - - upstream 31 0 0 46 5 10.9 54 7 13 88 27 30.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.910470588 0.910470588 1 0.896961652 0.896961652 1 1.273929134 1.273929134 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000361 1 1.13E-08 1 1.86E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 16031463 G A STRAP CCDS8676.1 r.? - - upstream 20 0 0 37 11 29.7 47 13 27.7 71 39 54.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.480823529 1.240411765 2 1.911218289 0.955609145 2 2.278133858 1.139066929 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.7E-17 1 1.47E-19 1 2.47E-70 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 16701178 T C LMO3 CCDS8678.1 r.? - - downstream 35 0 0 40 7 17.5 38 5 13.2 85 18 21.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.461764706 1.461764706 1 0.910761062 0.910761062 1 0.879716535 0.879716535 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.26E-09 1 0.00000137 1 3.35E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 17107679 A C - - - - - - 29 0 0 39 8 20.5 48 13 27.1 93 22 23.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.712352941 1.712352941 1 1.869820059 0.934910029 2 0.983456693 0.983456693 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.09E-11 1 2E-19 1 2.05E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 18252929 G A - - - - - - 32 0 0 35 6 17.1 38 10 26.3 82 44 53.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.428352941 1.428352941 1 1.814622419 0.907311209 2 2.228338583 1.114169291 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-08 1 4.06E-15 1 1.61E-78 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 19103554 A C - - - - - - 24 0 0 38 5 13.2 36 2 5.6 82 24 29.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.102588235 1.102588235 1 0.386383481 0.386383481 1 1.215834646 1.215834646 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000137 1 0.014070883 1 1.47E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 19198543 G A - - - - - - 28 0 0 45 5 11.1 55 5 9.1 114 28 24.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.927176471 0.927176471 1 0.627873156 0.627873156 1 1.02080315 1.02080315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000323 1 0.00000883 1 8.46E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 19289640 C T PLEKHA5 CCDS8682.1 r.? - - intronic 38 0 0 38 9 23.7 38 9 23.7 88 36 40.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.979647059 0.989823529 2 1.635230088 1.635230088 1 1.697188976 0.848594488 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.79E-13 1 2.79E-13 1 6.98E-59 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 20956353 T C - - - - - - 33 0 0 36 4 11.1 56 6 10.7 85 20 23.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.927176471 0.927176471 1 0.738268437 0.738268437 1 0.97515748 0.97515748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000324 1 0.000000409 1 9.82E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 21051146 C T SLCO1B3 CCDS8684.1 r.? - - intronic 34 0 0 43 9 20.9 43 12 27.9 76 37 48.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.745764706 1.745764706 1 1.925017699 0.96250885 2 2.020858268 1.010429134 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.45E-13 1 3.24E-18 1 4.04E-64 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 23421659 T C - - - - - - 40 0 0 38 6 15.8 45 14 31.1 70 24 34.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.319764706 1.319764706 1 2.14580826 1.07290413 2 1.423314961 0.71165748 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.76E-08 1 8.81E-22 1 1.68E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 23425940 T A - - - - - - 41 0 0 45 8 17.8 41 9 22 86 25 29.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.486823529 1.486823529 1 1.517935103 1.517935103 1 1.207535433 1.207535433 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.14E-11 1 5.92E-13 1 6.84E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 25715366 A T IFLTD1 CCDS44847.1 r.? - - intronic 25 0 0 43 9 20.9 56 5 8.9 103 15 14.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.745764706 1.745764706 1 0.614073746 0.614073746 1 0.60584252 0.60584252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.45E-13 1 0.00000965 1 8.24E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 29368820 C T - - - - - - 36 0 0 37 9 24.3 51 5 9.8 70 15 21.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.029764706 1.014882353 2 0.676171091 0.676171091 1 0.888015748 0.888015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.14E-13 1 0.00000606 1 1.7E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 29609809 G A OVCH1 ENST00000318184 r.? - - intronic 28 0 0 34 13 38.2 51 18 35.3 75 39 52 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.190823529 1.595411765 2 2.43559587 1.217797935 2 2.157795276 1.078897638 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.03E-21 1 9.1E-29 1 4.99E-69 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 30294973 A G - - - - - - 40 0 0 37 4 10.8 51 8 15.7 67 17 25.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.902117647 0.902117647 1 1.083253687 1.083253687 1 1.054 1.054 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000362 1 2.05E-10 1 2.03E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 31407484 G C - - - - - - 27 0 0 30 5 16.7 49 4 8.2 107 27 25.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.394941176 1.394941176 1 0.565775811 0.565775811 1 1.045700787 1.045700787 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 0.000110643 1 7.97E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 62694017 C T - - - - - - 16 0 0 28 5 17.9 5 0 0 44 0 0 151 0 0 41 5 12.2 56 1 1.8 0.430398798 74 0 0 TRUE TRUE 1.316176471 1.316176471 1 0 0 1 0 0 1 0.897058824 0.897058824 1 0.10619469 0.10619469 1 0 0 1 8 6 1 1 0.000000279 0.00000202 1 0.244746891 1 1 YES 1_1 0_0 0_0 somatic custom.pulldown.HiSeq PD9777b 12 32332938 A G BICD1 CCDS8726.1 r.? - - intronic 12 0 0 27 8 29.6 23 5 21.7 54 19 35.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.472470588 1.236235294 2 1.497235988 1.497235988 1 1.460661417 0.730330709 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.97E-13 1 9.75E-08 1 2.97E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 33142155 T A - - - - - - 33 0 0 33 11 33.3 41 16 39 104 50 48.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.781529412 1.390764706 2 2.690884956 1.345442478 2 1.99596063 0.997980315 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.54E-18 1 1.4E-26 1 9.99E-86 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 33578120 C A SYT10 CCDS8732.1 r.? - - intronic 30 0 0 49 8 16.3 46 7 15.2 87 21 24.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.361529412 1.361529412 1 1.048755162 1.048755162 1 1.000055118 1.000055118 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.47E-10 1 3.53E-09 1 2.64E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 33957287 A C - - - - - - 27 0 0 35 6 17.1 37 5 13.5 83 24 28.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.428352941 1.428352941 1 0.931460177 0.931460177 1 1.19923622 1.19923622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-08 1 0.00000119 1 2.06E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 34084845 T G - - - - - - 20 0 0 38 9 23.7 53 9 17 63 16 25.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.979647059 0.989823529 2 1.172949853 1.172949853 1 1.054 1.054 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.79E-13 1 7.1E-12 1 4.48E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 34431266 G A - - - - - - 37 0 0 34 9 26.5 27 11 40.7 93 37 39.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.213529412 1.106764706 2 2.808179941 1.404089971 2 1.651543307 0.825771654 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.15E-14 1 5.92E-19 1 6.54E-60 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 38185375 T A - - - - - - 33 0 0 40 4 10 34 0 0 61 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.735294118 0.735294118 1 0 0 1 0 NA 0 NA NA 1 NA NA 1 NA NA 0 NA NA 1 1 0.0000495 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 40004505 G A ABCD2 CCDS8734.1 r.? - - intronic 36 0 0 35 4 11.4 45 8 17.8 65 20 30.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838235294 0.838235294 1 1.050147493 1.050147493 1 0.95006511 0.95006511 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000289 1 7.14E-11 1 2.18E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 40514960 A G - - - - - - 38 0 0 37 5 13.5 37 6 16.2 69 21 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.992647059 0.992647059 1 0.955752212 0.955752212 1 0.937726602 0.937726602 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000119 1 3.18E-08 1 1.02E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 40654849 C T LRRK2 CCDS31774.1 r.? - - intronic 31 0 0 38 5 13.2 40 9 22.5 60 20 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.970588235 0.970588235 1 1.327433628 1.327433628 1 1.027180785 1.027180785 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000137 1 4.64E-13 1 3.3E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 40854723 G C MUC19 ENST00000425730 r.? - - intronic 40 0 0 36 6 16.7 35 3 8.6 63 25 39.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 0.507374631 0.507374631 1 1.224596911 1.224596911 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 2.68E-08 1 0.000725791 1 6.06E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 41756335 A C PDZRN4 ENST00000402685 r.? - - intronic 33 0 0 33 5 15.2 40 3 7.5 81 29 35.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.117647059 1.117647059 1 0.442477876 0.442477876 1 1.104296459 1.104296459 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000066 1 0.001075403 1 1.18E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 236569023 C T EDARADD CCDS31065.1 r.? - - intronic 21 0 0 40 4 10 50 4 8 86 13 15.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.835294118 0.835294118 1 0.570953485 0.570953485 1 0.705616285 0.705616285 1 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 0.0000495 1 0.000119787 1 7.57E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 41924763 T G PDZRN4 CCDS8739.1 r.? - - intronic 10 0 0 12 5 41.7 13 1 7.7 24 4 16.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.066176471 3.066176471 1 0.454277286 0.454277286 1 0.515132706 0.515132706 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 2.4E-09 1 0.063085307 1 0.00000613 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 42395578 T A - - - - - - 30 0 0 32 8 25 22 3 13.6 65 27 41.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.838235294 1.838235294 1 0.802359882 0.802359882 1 1.280120197 1.280120197 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 3.69E-12 1 0.000179267 1 8.98E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 236569025 T C EDARADD CCDS31065.1 r.? - - intronic 19 0 0 37 4 10.8 49 4 8.2 85 15 17.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.902117647 0.902117647 1 0.585227322 0.585227322 1 0.822440173 0.822440173 1 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 0.0000362 1 0.000110643 1 3.95E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 43399435 T C - - - - - - 30 0 0 28 7 25 47 9 19.1 69 21 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.838235294 1.838235294 1 1.126843658 1.126843658 1 0.937726602 0.937726602 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 8.44E-11 1 2.24E-12 1 1.02E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 44354582 C T TMEM117 CCDS8745.1 r.? - - intronic 31 0 0 30 4 13.3 47 7 14.9 60 17 28.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.977941176 0.977941176 1 0.879056047 0.879056047 1 0.872949436 0.872949436 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000154 1 4.12E-09 1 2.41E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 44641898 G C TMEM117 CCDS8745.1 r.? - - intronic 33 0 0 32 6 18.8 32 9 28.1 48 20 41.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.382352941 1.382352941 1 1.657817109 1.657817109 1 1.286289451 1.286289451 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.27E-08 1 4.94E-14 1 1.4E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 49024973 G T - - - - - - 23 0 0 26 5 19.2 32 5 15.6 55 19 34.5 0 0 NA 1 0 0 0 0 NA 1 0 0 NA TRUE FALSE 1.411764706 1.411764706 1 0.920353982 0.920353982 1 1.064196308 1.064196308 1 0 0 1 NA NA 1 NA NA 0 9 NA 1 1 0.000000188 1 0.000000562 1 4.51E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 50643070 C T LIMA1 CCDS44877.1 r.? - - intronic 40 0 0 32 4 12.5 30 6 20 63 23 36.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 1.179941003 1.179941003 1 1.125888848 1.125888848 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000201 1 8.37E-09 1 9.25E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 51334597 C G - - - - - - 31 0 0 38 5 13.2 25 4 16 72 19 26.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.970588235 0.970588235 1 0.943952802 0.943952802 1 0.814341523 0.814341523 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000137 1 0.00000727 1 1.75E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 53507816 G C SOAT2 CCDS8847.1 r.? - - intronic 37 0 0 41 10 24.4 39 7 17.9 65 13 20 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.794117647 1.794117647 1 1.056047198 1.056047198 1 0.616925396 0.659798664 0.935020682 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 9.51E-15 1 1.04E-09 1 1.57E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 53529399 T C - - - - - - 28 0 0 34 5 14.7 28 2 7.1 56 17 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.080882353 1.080882353 1 0.418879056 0.418879056 1 0.937726602 0.937726602 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000000771 1 0.008668191 1 6.22E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 57335431 C T - - - - - - 25 0 0 41 7 17.1 30 6 20 63 28 44.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.257352941 1.257352941 1 1.179941003 1.179941003 1 1.36957438 1.36957438 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.51E-09 1 8.37E-09 1 1.98E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 57376835 A G - - - - - - 35 0 0 38 8 21.1 20 3 15 75 16 21.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.551470588 1.551470588 1 0.884955752 0.884955752 1 0.657025547 0.702685577 0.935020682 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.67E-11 1 0.0001337 1 9.88E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 58419544 G C - - - - - - 39 0 0 27 4 14.8 36 6 16.7 69 22 31.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.088235294 1.088235294 1 0.985250737 0.985250737 1 0.983996007 0.983996007 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00001 1 2.68E-08 1 1.12E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 60008585 T C - - - - - - 11 0 0 16 3 18.8 14 2 14.3 31 11 35.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.382352941 1.382352941 1 0.843657817 0.843657817 1 1.095042578 1.095042578 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000667 1 0.002185852 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 60050230 A C - - - - - - 36 0 0 41 4 9.8 35 7 20 55 20 36.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.720588235 0.720588235 1 1.179941003 1.179941003 1 1.122804221 1.122804221 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000546 1 4.65E-10 1 4.08E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 61553615 A C - - - - - - 32 0 0 38 6 15.8 50 8 16 63 23 36.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.161764706 1.161764706 1 0.943952802 0.943952802 1 1.125888848 1.125888848 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 3.76E-08 1 1.74E-10 1 9.25E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 61653922 C T - - - - - - 40 0 0 42 7 16.7 36 8 22.2 63 24 38.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 1.309734513 1.309734513 1 1.17524288 1.17524288 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.81E-09 1 1.04E-11 1 7.74E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 62021697 G A - - - - - - 32 0 0 32 7 21.9 37 5 13.5 55 16 29.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.610294118 1.610294118 1 0.796460177 0.796460177 1 0.897626451 0.897626451 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 2.36E-10 1 0.00000119 1 3.78E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 63856559 A G - - - - - - 33 0 0 33 6 18.2 45 10 22.2 61 19 31.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.338235294 1.338235294 1 1.309734513 1.309734513 1 0.959318991 0.959318991 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.54E-08 1 2.66E-14 1 4.64E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 64651808 T C - - - - - - 32 0 0 37 6 16.2 42 6 14.3 60 16 26.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.191176471 1.191176471 1 0.843657817 0.843657817 1 0.823595404 0.823595404 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 3.18E-08 1 7.02E-08 1 1.86E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 64919829 A G - - - - - - 34 0 0 37 5 13.5 41 10 24.4 71 19 26.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.992647059 0.992647059 1 1.439528024 1.439528024 1 0.826680031 0.826680031 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000119 1 9.51E-15 1 1.29E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 65974110 C T - - - - - - 28 0 0 38 5 13.2 36 6 16.7 52 20 38.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.970588235 0.970588235 1 0.985250737 0.985250737 1 1.187581388 1.187581388 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000137 1 2.68E-08 1 1.03E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 65994037 C A - - - - - - 40 0 0 41 5 12.2 26 4 15.4 64 21 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.897058824 0.897058824 1 0.908554572 0.908554572 1 1.01175765 1.01175765 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000202 1 0.00000856 1 1.6E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 66098312 G C - - - - - - 28 0 0 28 8 28.6 35 4 11.4 64 24 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.102941176 2.102941176 1 0.672566372 0.672566372 1 1.156735118 1.156735118 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.11E-12 1 0.0000289 1 1.23E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 68104935 A G - - - - - - 33 0 0 26 6 23.1 25 3 12 45 12 26.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.698529412 1.698529412 1 0.707964602 0.707964602 1 0.823595404 0.823595404 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 3.3E-09 1 0.00026475 1 6.03E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 68947373 G A - - - - - - 27 0 0 37 6 16.2 22 5 22.7 64 19 29.7 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.191176471 1.191176471 1 1.339233038 1.339233038 1 0.916134213 0.916134213 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 3.18E-08 1 7.67E-08 1 1.34E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 69552366 A C - - - - - - 19 0 0 25 5 20 17 1 5.9 28 9 32.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 0.348082596 0.348082596 1 0.990165261 0.990165261 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000000153 1 0.081683532 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 69579427 G A - - - - - - 30 0 0 32 7 21.9 38 8 21.1 58 22 37.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.610294118 1.610294118 1 1.244837758 1.244837758 1 1.169073626 1.169073626 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 2.36E-10 1 1.67E-11 1 1.13E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 69797318 C T - - - - - - 30 0 0 27 6 22.2 22 3 13.6 64 24 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.632352941 1.632352941 1 0.802359882 0.802359882 1 1.156735118 1.156735118 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 4.23E-09 1 0.000179267 1 1.23E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 71039343 C A PTPRR CCDS8998.1 r.? - - intronic 24 0 0 35 6 17.1 39 7 17.9 68 21 30.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.257352941 1.257352941 1 1.056047198 1.056047198 1 0.953149737 0.953149737 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 2.24E-08 1 1.04E-09 1 7.15E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 71694432 G T TSPAN8 CCDS8999.1 r.? - - intronic 27 0 0 42 8 19 37 9 24.3 72 20 27.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.397058824 1.397058824 1 1.433628319 1.433628319 1 0.857526301 0.857526301 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 3.96E-11 1 2.14E-13 1 2.32E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 72836372 C T TRHDE CCDS9004.1 r.? - - intronic 25 0 0 31 6 19.4 32 6 18.8 61 16 26.2 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 TRUE FALSE 1.426470588 1.426470588 1 1.109144543 1.109144543 1 0.808172269 0.808172269 1 NA NA 1 NA NA 1 0 NA 0 9 NA 1 1 1.03E-08 1 1.27E-08 1 2.5E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 73979254 A T - - - - - - 30 0 0 31 4 12.9 32 6 18.8 61 21 34.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.948529412 0.948529412 1 1.109144543 1.109144543 1 1.061111681 1.061111681 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000177 1 1.27E-08 1 4.8E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 74613926 A G - - - - - - 26 0 0 34 6 17.6 48 6 12.5 63 17 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.294117647 1.294117647 1 0.737463127 0.737463127 1 0.832849285 0.832849285 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.86E-08 1 0.00000016 1 6.22E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 74860685 T C - - - - - - 23 0 0 39 10 25.6 31 4 12.9 69 23 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.882352941 1.882352941 1 0.761061947 0.761061947 1 1.027180785 1.027180785 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 5.44E-15 1 0.0000177 1 1.15E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 76080912 T G - - - - - - 36 0 0 39 4 10.3 40 10 25 78 32 41 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 1.474926254 1.474926254 1 1.264697062 1.264697062 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000447 1 7.22E-15 1 1.46E-52 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 76095096 G T - - - - - - 34 0 0 32 5 15.6 40 10 25 62 24 38.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.147058824 1.147058824 1 1.474926254 1.474926254 1 1.193750642 1.193750642 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000000562 1 7.22E-15 1 4.81E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 77656490 T C - - - - - - 50 0 0 39 7 17.9 37 7 18.9 61 22 36.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.316176471 1.316176471 1 1.115044248 1.115044248 1 1.11355034 1.11355034 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.04E-09 1 7.05E-10 1 4.38E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 77675258 C A - - - - - - 28 0 0 27 5 18.5 40 3 7.5 58 18 31 0 0 NA 0 0 NA 2 0 0 1 0 0 NA TRUE FALSE 1.360294118 1.360294118 1 0.442477876 0.442477876 1 0.956234364 0.956234364 1 NA NA 1 0 0 1 NA NA 0 9 NA 1 1 0.00000023 1 0.001075403 1 1.42E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 79774307 C T SYT1 CCDS9017.1 r.? - - intronic 29 0 0 43 6 14 42 9 21.4 56 13 23.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.029411765 1.029411765 1 1.262536873 1.262536873 1 0.71563346 0.71563346 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 8.13E-08 1 7.51E-13 1 1.89E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 79999452 C T PAWR CCDS31863.1 r.? - - intronic 41 0 0 37 6 16.2 33 6 18.2 74 24 32.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.191176471 1.191176471 1 1.073746313 1.073746313 1 0.999419142 0.999419142 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 3.18E-08 1 1.54E-08 1 8.21E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 81324536 A G LIN7A CCDS9021.1 r.? - - intronic 27 0 0 35 4 11.4 46 5 10.9 52 10 19.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838235294 0.838235294 1 0.643067847 0.643067847 1 0.59224838 0.633406717 0.935020682 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000289 1 0.00000361 1 1.28E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 83432578 G A TMTC2 CCDS9025.1 r.? - - intronic 39 0 0 39 5 12.8 30 4 13.3 43 14 32.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.941176471 0.941176471 1 0.784660767 0.784660767 1 1.005588396 1.005588396 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000156 1 0.0000154 1 4.18E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 84530802 C G - - - - - - 35 0 0 39 5 12.8 35 7 20 58 15 25.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.941176471 0.941176471 1 1.179941003 1.179941003 1 0.798918388 0.798918388 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000156 1 4.65E-10 1 7.42E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 85522098 C A LRRIQ1 CCDS41816.1 r.? - - intronic 30 0 0 40 4 10 28 5 17.9 62 21 33.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 1.056047198 1.056047198 1 1.045688547 1.045688547 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000495 1 0.000000279 1 7.22E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 85799673 T A - - - - - - 28 0 0 33 3 9.1 29 0 0 67 1 1.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.669117647 0.669117647 1 0 0 1 0.046269405 NA 0 NA NA 1 NA NA 1 NA NA 0 NA NA 1 1 0.000609557 1 1 1 0.285262761 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 87470587 G C - - - - - - 19 0 0 24 5 20.8 21 4 19 52 14 26.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.529411765 1.529411765 1 1.120943953 1.120943953 1 0.829764658 0.829764658 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000000123 1 0.00000349 1 9.04E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 87525815 G T - - - - - - 31 0 0 46 10 21.7 37 5 13.5 46 16 34.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.595588235 1.595588235 1 0.796460177 0.796460177 1 1.073450189 1.073450189 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 3.38E-14 1 0.00000119 1 1.31E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 91349208 G A C12orf12 CCDS9036.1 r.? - - upstream 23 0 0 29 9 31 28 3 10.7 50 12 24 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.279411765 2.279411765 1 0.631268437 0.631268437 1 0.740310475 0.740310475 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.79E-14 1 0.000372895 1 2.49E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 94669716 A G PLXNC1 CCDS9049.1 r.? - - intronic 28 0 0 35 5 14.3 15 3 20 55 18 32.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 1.179941003 1.179941003 1 1.008673023 1.008673023 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000000895 1 0.0000544 1 4.61E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 95309259 C T - - - - - - 31 0 0 31 5 16.1 24 3 12.5 66 24 36.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.183823529 1.183823529 1 0.737463127 0.737463127 1 1.122804221 1.122804221 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000000476 1 0.000233853 1 3.04E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 96552904 T C - - - - - - 27 0 0 34 4 11.8 24 4 16.7 44 14 31.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.867647059 0.867647059 1 0.985250737 0.985250737 1 0.98091138 0.98091138 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000257 1 0.00000613 1 6.1E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 97149820 G A C12orf63 CCDS9062.1 r.? - - intronic 43 0 0 36 6 16.7 37 7 18.9 75 36 48 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 1.115044248 1.115044248 1 1.480620951 1.480620951 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 2.68E-08 1 7.05E-10 1 3.93E-62 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 100162583 C G ANKS1B ENST00000329257 r.? - - intronic 27 0 0 32 4 12.5 14 2 14.3 42 12 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 0.843657817 0.843657817 1 0.882203317 0.882203317 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000201 1 0.002185852 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 101750618 C T UTP20 CCDS9081.1 r.? - - intronic 33 0 0 26 4 15.4 41 3 7.3 65 20 30.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.132352941 1.132352941 1 0.430678466 0.430678466 1 0.95006511 0.95006511 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000856 1 0.001155993 1 2.18E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 103170247 C T - - - - - - 27 0 0 43 5 11.6 35 2 5.7 67 19 28.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.852941176 0.852941176 1 0.336283186 0.336283186 1 0.876034063 0.876034063 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000257 1 0.013332991 1 3.67E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 105944906 G T - - - - - - 29 0 0 38 6 15.8 29 6 20.7 67 22 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.161764706 1.161764706 1 1.221238938 1.221238938 1 1.01175765 1.01175765 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 3.76E-08 1 6.72E-09 1 5.21E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 109489101 G A USP30 CCDS9123.2 r.? - - upstream 24 0 0 18 6 33.3 15 3 20 42 11 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.448529412 2.448529412 1 1.179941003 1.179941003 1 0.808172269 0.808172269 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 2.75E-10 1 0.0000544 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 110484276 C A C12orf76 CCDS9141.1 r.? - - intronic 28 0 0 44 5 11.4 21 0 0 75 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.838235294 0.838235294 1 0 0 1 0 NA 0 NA NA 1 NA NA 1 NA NA 0 NA NA 1 1 0.00000288 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 114921289 C T - - - - - - 22 0 0 44 8 18.2 33 5 15.2 55 15 27.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.338235294 1.338235294 1 0.896755162 0.896755162 1 0.842103166 0.842103166 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 5.9E-11 1 0.00000066 1 3.01E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 117095609 C G - - - - - - 30 0 0 30 4 13.3 35 4 11.4 57 18 31.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.977941176 0.977941176 1 0.672566372 0.672566372 1 0.974742126 0.974742126 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000154 1 0.0000289 1 9.84E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 118993365 C T - - - - - - 34 0 0 35 4 11.4 36 2 5.6 65 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.838235294 0.838235294 1 0.330383481 0.330383481 1 0 NA 0 NA NA 1 NA NA 1 NA NA 0 NA NA 1 1 0.0000289 1 0.014070883 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 119961892 G A CCDC60 CCDS9190.1 r.? - - intronic 30 0 0 34 6 17.6 40 6 15 80 18 22.5 0 0 NA 0 0 NA 0 0 NA 1 1 0 0 TRUE FALSE 1.294117647 1.294117647 1 0.884955752 0.884955752 1 0.694041071 0.742273497 0.935020682 NA NA 1 NA NA 1 0 NA 0 9 NA 1 1 1.86E-08 1 5.18E-08 1 1.01E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 121451118 C T C12orf43 CCDS9210.1 r.? - - intronic 30 0 0 35 7 20 32 5 15.6 62 30 48.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 0.920353982 0.920353982 1 1.492959459 1.492959459 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 4.65E-10 1 0.000000562 1 3.6E-52 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 124516728 C T - - - - - - 26 0 0 45 6 13.3 25 4 16 60 14 23.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.977941176 0.977941176 1 0.943952802 0.943952802 1 0.718718087 0.718718087 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000000108 1 0.00000727 1 8.54E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 125806432 G A TMEM132B CCDS41859.1 r.? - - upstream 41 0 0 29 7 24.1 35 6 17.1 69 21 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.772058824 1.772058824 1 1.008849558 1.008849558 1 0.937726602 0.937726602 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.11E-10 1 2.24E-08 1 1.02E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 127101565 T A - - - - - - 29 0 0 34 6 17.6 29 9 31 51 20 39.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.294117647 1.294117647 1 1.828908555 1.828908555 1 1.209173777 1.209173777 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.86E-08 1 1.79E-14 1 6.38E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 127219297 T A - - - - - - 26 0 0 25 6 24 33 5 15.2 67 16 23.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.764705882 1.764705882 1 0.896755162 0.896755162 1 0.737225848 0.737225848 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 2.55E-09 1 0.00000066 1 1.35E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 128414455 A C - - - - - - 31 0 0 29 4 13.8 33 9 27.3 61 18 29.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.014705882 1.014705882 1 1.610619469 1.610619469 1 0.909964959 0.909964959 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000134 1 6.76E-14 1 4.08E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 128763542 A G - - - - - - 34 0 0 43 6 14 23 4 17.4 56 16 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.029411765 1.029411765 1 1.026548673 1.026548673 1 0.882203317 0.882203317 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 8.13E-08 1 0.00000513 1 5.26E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 129037963 C A TMEM132C CCDS45009.1 r.? - - intronic 44 0 0 28 6 21.4 30 5 16.7 64 22 34.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.573529412 1.573529412 1 0.985250737 0.985250737 1 1.061111681 1.061111681 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 5.36E-09 1 0.000000401 1 1.57E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 129495916 A T - - - - - - 32 0 0 36 6 16.7 37 3 8.1 67 25 37.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 0.477876106 0.477876106 1 1.150565864 1.150565864 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 2.68E-08 1 0.000855237 1 4.07E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 129793416 G C TMEM132D CCDS9266.1 r.? - - intronic 22 0 0 39 6 15.4 40 6 15 60 14 23.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.132352941 1.132352941 1 0.884955752 0.884955752 1 0.718718087 0.718718087 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 4.43E-08 1 5.18E-08 1 8.54E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 129986049 T A TMEM132D CCDS9266.1 r.? - - intronic 29 0 0 36 5 13.9 28 3 10.7 63 17 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.022058824 1.022058824 1 0.631268437 0.631268437 1 0.832849285 0.832849285 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000104 1 0.000372895 1 6.22E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 130136783 A G TMEM132D CCDS9266.1 r.? - - intronic 32 0 0 27 5 18.5 34 4 11.8 69 23 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.360294118 1.360294118 1 0.696165192 0.696165192 1 1.027180785 1.027180785 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000023 1 0.0000257 1 1.15E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 130306421 C T TMEM132D CCDS9266.1 r.? - - intronic 21 0 0 31 5 16.1 28 6 21.4 59 22 37.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.183823529 1.183823529 1 1.262536873 1.262536873 1 1.150565864 1.150565864 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000000476 1 5.36E-09 1 1.79E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 130729204 C A - - - - - - 31 0 0 30 4 13.3 27 4 14.8 59 14 23.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.977941176 0.977941176 1 0.873156342 0.873156342 1 0.731056594 0.731056594 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000154 1 0.00001 1 6.58E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 19241804 T A - - - - - - 28 0 0 29 3 10.3 19 5 26.3 42 22 52.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.654352941 0.654352941 1 1.288622419 1.288622419 1 1.187986103 1.187986103 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000414371 1 3.43E-08 1 1.11E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 239120943 C A - - - - - - 28 0 0 43 4 9.3 53 4 7.5 86 18 20.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.776823529 0.776823529 1 0.535268892 0.535268892 1 0.976647705 0.976647705 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000066 1 0.000150502 1 4.22E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 19802304 T A - - - - - - 44 0 0 24 6 25 26 10 38.5 40 19 47.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.588235294 1.588235294 1 1.886386431 1.886386431 1 1.0768958 1.0768958 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 1.95E-09 1 4.82E-17 1 2.27E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 22898498 G A - - - - - - 32 0 0 33 5 15.2 31 9 29 53 22 41.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.965647059 0.965647059 1 1.420914454 1.420914454 1 0.940866856 0.940866856 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 3.57E-14 1 9.5E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 24828631 G T SPATA13 CCDS9305.1 r.? - - intronic 35 0 0 20 4 20 24 5 20.8 52 28 53.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.270588235 1.270588235 1 1.019138643 1.019138643 1 1.21972619 1.21972619 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00000284 1 0.000000123 1 1.41E-50 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 27504151 G C - - - - - - 37 0 0 27 8 29.6 27 3 11.1 73 21 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.176470588 2.176470588 1 0.639378152 0.639378152 1 0.947311087 0.947311087 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 7.97E-13 1 0.000334187 1 4.03E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 28337053 T C - - - - - - 29 0 0 44 7 15.9 14 2 14.3 48 15 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.169117647 1.169117647 1 0.823703384 0.823703384 1 1.026253678 1.026253678 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.55E-09 1 0.002185852 1 2.86E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 28857582 C G PAN3 CCDS9329.1 r.? - - intronic 30 0 0 23 5 21.7 24 7 29.2 52 26 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.378588235 1.378588235 1 1.430713864 1.430713864 1 1.134483217 1.134483217 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.75E-08 1 2.51E-11 1 6.52E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 29517072 T C - - - - - - 31 0 0 30 7 23.3 31 4 12.9 48 21 43.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.480235294 1.480235294 1 0.632061947 0.632061947 1 0.993807298 0.993807298 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.44E-10 1 0.0000177 1 9.35E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 32085371 G A - - - - - - 17 0 0 34 6 17.6 24 5 20.8 52 29 55.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.118117647 1.118117647 1 1.019138643 1.019138643 1 1.26608327 1.26608327 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.86E-08 1 0.000000123 1 5.88E-53 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 35565530 C T NBEA CCDS45026.1 r.? - - intronic 35 0 0 37 5 13.5 32 6 18.8 45 24 53.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.857647059 0.857647059 1 0.921144543 0.921144543 1 1.209359109 1.209359109 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000119 1 1.27E-08 1 2.03E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 39416190 C T FREM2 CCDS31960.1 r.? - - intronic 31 0 0 27 6 22.2 26 4 15.4 54 23 42.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.410352941 1.410352941 1 0.754554572 0.754554572 1 0.966579701 0.966579701 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.23E-09 1 0.00000856 1 1.12E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 40858618 C T - - - - - - 43 0 0 29 6 20.7 29 6 20.7 27 16 59.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.315058824 1.315058824 1 1.014238938 1.014238938 1 1.345497095 1.345497095 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.72E-09 1 6.72E-09 1 1.89E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 40963300 G A - - - - - - 35 0 0 32 5 15.6 21 6 28.6 51 27 52.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.991058824 0.991058824 1 1.401315634 1.401315634 1 1.200283243 1.200283243 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 7.95E-10 1 1.52E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 41910306 A T NAA16 CCDS9379.1 r.? - - intronic 26 0 0 24 3 12.5 42 11 26.2 40 18 45 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 1.283722714 1.283722714 1 1.021034895 1.021034895 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000233853 1 1.81E-16 1 3.9E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 43234033 C T - - - - - - 33 0 0 28 5 17.9 34 9 26.5 49 28 57.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.137176471 1.137176471 1 1.298421829 1.298421829 1 1.295579834 1.157428958 1.119360135 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000000279 1 9.15E-14 1 1.31E-51 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 43355245 C G C13orf30 CCDS9386.1 r.? - - upstream 31 0 0 39 11 28.2 30 8 26.7 49 20 40.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.791529412 1.791529412 1 1.308221239 1.308221239 1 0.925738305 0.925738305 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 7.2E-17 1 2.07E-12 1 2.35E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 46435581 A C - - - - - - 25 0 0 25 6 24 26 4 15.4 29 21 72.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.524705882 1.524705882 1 0.754554572 0.754554572 1 1.642731698 1.467563162 1.119360135 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 2.55E-09 1 0.00000856 1 1.97E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 47096152 G C - - - - - - 27 0 0 33 7 21.2 48 11 22.9 52 27 51.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.346823529 1.346823529 1 1.122032448 1.122032448 1 1.177593579 1.177593579 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 2.98E-10 1 9.31E-16 1 3.15E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 53442940 C T - - - - - - 24 0 0 32 6 18.8 29 6 20.7 47 30 63.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.194352941 1.194352941 1 1.014238938 1.014238938 1 1.447600585 1.293239361 1.119360135 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 1.27E-08 1 6.72E-09 1 2.35E-57 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 54600358 C T - 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- - - - - 30 0 0 38 7 18.4 24 3 12.5 83 21 25.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.536941176 1.536941176 1 0.862463127 0.862463127 1 1.049850394 1.049850394 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.61E-10 1 0.000233853 1 8.7E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 85198675 A G - - - - - - 43 0 0 50 5 10 56 9 16.1 104 27 26 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.835294118 0.835294118 1 1.110852507 1.110852507 1 1.078897638 1.078897638 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000549 1 1.2E-11 1 3.35E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 86407229 C A - - - - - - 34 0 0 49 12 24.5 54 8 14.8 86 26 30.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.046470588 1.023235294 2 1.021156342 1.021156342 1 1.253181102 1.253181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.9E-17 1 3.31E-10 1 8.05E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 86638838 G T - - - - - - 23 0 0 31 5 16.1 30 9 30 79 41 51.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.344823529 1.344823529 1 2.069911504 1.034955752 2 2.153645669 1.076822835 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000476 1 2.54E-14 1 1.93E-72 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 87070294 C T - - - - - - 36 0 0 33 4 12.1 60 7 11.7 93 24 25.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.010705882 1.010705882 1 0.807265487 0.807265487 1 1.070598425 1.070598425 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 2.39E-08 1 4.66E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 87472111 T C - - - - - - 26 0 0 39 8 20.5 43 10 23.3 83 37 44.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.712352941 1.712352941 1 1.607631268 1.607631268 1 1.850724409 0.925362205 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.09E-11 1 1.61E-14 1 3.03E-62 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 27394667 G T - 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- - - - - 24 0 0 30 7 23.3 37 6 16.2 58 14 24.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.946235294 1.946235294 1 1.117752212 1.117752212 1 1.000055118 1.000055118 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.44E-10 1 3.18E-08 1 5.04E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 90650320 T G - - - - - - 30 0 0 39 6 15.4 52 4 7.7 95 22 23.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.286352941 1.286352941 1 0.531277286 0.531277286 1 0.962708661 0.962708661 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.43E-08 1 0.000139698 1 3.45E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 90698935 C A - - - - - - 27 0 0 39 10 25.6 48 11 22.9 73 38 52.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.138352941 1.069176471 2 1.580032448 1.580032448 1 2.161944882 1.080972441 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.44E-15 1 9.31E-16 1 2.54E-67 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 90699331 C G - - - - - - 32 0 0 33 5 15.2 38 7 18.4 86 42 48.8 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 TRUE FALSE 1.269647059 1.269647059 1 1.269545723 1.269545723 1 2.025007874 1.012503937 2 NA NA 1 NA NA 1 0 0 1 9 NA 1 1 0.00000066 1 8.61E-10 1 1.19E-72 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 90699420 C G - - - - - - 31 0 0 30 5 16.7 49 12 24.5 97 47 48.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.394941176 1.394941176 1 1.690427729 0.845213864 2 2.012559055 1.006279528 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 1.9E-17 1 6.8E-81 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 90701546 C G - - - - - - 24 0 0 38 7 18.4 48 11 22.9 81 37 45.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.536941176 1.536941176 1 1.580032448 1.580032448 1 1.896370079 0.948185039 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.61E-10 1 9.31E-16 1 9.3E-63 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 90825712 C G - - - - - - 37 0 0 47 9 19.1 57 17 29.8 82 51 62.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.595411765 1.595411765 1 2.056112094 1.028056047 2 2.581055118 1.290527559 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-12 1 8.82E-26 1 1.42E-95 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 90827312 C G - - - - - - 24 0 0 43 11 25.6 60 15 25 86 45 52.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.138352941 1.069176471 2 1.724926254 0.862463127 2 2.170244094 1.085122047 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.42E-16 1 1.31E-21 1 1.41E-79 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 91314201 G A - - - - - - 30 0 0 33 10 30.3 38 12 31.6 90 48 53.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.530941176 1.265470588 2 2.180306785 1.090153392 2 2.211740157 1.105870079 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.14E-16 1 5.86E-19 1 2.46E-85 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 92495201 C G GPC5 CCDS9468.1 r.? - 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- intronic 36 0 0 48 7 14.6 55 7 12.7 77 16 20.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.219529412 1.219529412 1 0.876262537 0.876262537 1 0.86311811 0.86311811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.81E-09 1 1.28E-08 1 1.56E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 94539604 A G GPC6 CCDS9469.1 r.? - - intronic 24 0 0 48 5 10.4 41 5 12.2 65 17 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.868705882 0.868705882 1 0.841764012 0.841764012 1 1.08719685 1.08719685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000447 1 0.00000202 1 1.14E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 94871365 G T GPC6 CCDS9469.1 r.? - - intronic 27 0 0 34 5 14.7 41 4 9.8 90 25 27.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227882353 1.227882353 1 0.676171091 0.676171091 1 1.153590551 1.153590551 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000771 1 0.0000546 1 2.53E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 95872542 T C ABCC4 CCDS9474.1 r.? - - intronic 33 0 0 41 4 9.8 37 1 2.7 81 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.818588235 0.818588235 1 0.186292035 0.186292035 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.0000546 1 0.169281299 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 96015224 A T - - - - - - 28 0 0 49 5 10.2 42 4 9.5 86 17 19.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.852 0.852 1 0.655471976 0.655471976 1 0.821622047 0.821622047 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000496 1 0.0000601 1 2.19E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 96251362 T G DZIP1 CCDS9478.1 r.? - - intronic 38 0 0 44 7 15.9 46 3 6.5 85 19 22.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.328117647 1.328117647 1 0.448480826 0.448480826 1 0.929511811 0.929511811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.55E-09 1 0.001615827 1 5.93E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 96429811 A G DNAJC3 CCDS9479.1 r.? - - intronic 39 0 0 36 4 11.1 45 4 8.9 65 19 29.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.927176471 0.927176471 1 0.614073746 0.614073746 1 1.211685039 1.211685039 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000324 1 0.0000791 1 1.89E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 97039044 C T HS6ST3 CCDS9481.1 r.? - - intronic 30 0 0 44 6 13.6 22 4 18.2 82 20 24.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.136 1.136 1 1.255746313 1.255746313 1 1.012503937 1.012503937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.37E-08 1 0.00000425 1 4.4E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 97531329 C T - - - - - - 30 0 0 43 5 11.6 39 5 12.8 72 19 26.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.968941176 0.968941176 1 0.883162242 0.883162242 1 1.095496063 1.095496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000257 1 0.00000156 1 1.75E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 97674315 G C - - - - - - 35 0 0 37 5 13.5 30 6 20 77 15 19.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.127647059 1.127647059 1 1.379941003 1.379941003 1 0.809173228 0.809173228 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000119 1 8.37E-09 1 8.05E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 97745428 G A - - - - - - 31 0 0 39 5 12.8 49 6 12.2 94 24 25.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.069176471 1.069176471 1 0.841764012 0.841764012 1 1.058149606 1.058149606 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000156 1 0.000000182 1 6.23E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 101241720 A T - - - - - - 27 0 0 36 7 19.4 29 3 10.3 77 27 35.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.620470588 1.620470588 1 0.710669617 0.710669617 1 1.456511811 0.728255906 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.74E-10 1 0.000414371 1 2.57E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 102183521 C T ITGBL1 CCDS9499.1 r.? - - intronic 29 0 0 37 10 27 44 17 38.6 69 29 42 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.255294118 1.127647059 2 2.663286136 1.331643068 2 1.742834646 0.871417323 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.01E-15 1 4.61E-28 1 3.64E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 104947717 T C - - - - - - 26 0 0 34 5 14.7 43 11 25.6 86 16 18.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227882353 1.227882353 1 1.766324484 0.883162242 2 0.771826772 0.771826772 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000771 1 2.42E-16 1 1.06E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 105324313 G C - - - - - - 38 0 0 28 5 17.9 51 9 17.6 77 18 23.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.495176471 1.495176471 1 1.214348083 1.214348083 1 0.971007874 0.971007874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000279 1 4.92E-12 1 4.71E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 106003045 A T - - - - - - 35 0 0 35 5 14.3 44 7 15.9 68 26 38.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.194470588 1.194470588 1 1.097053097 1.097053097 1 1.585149606 0.792574803 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000895 1 2.55E-09 1 5.33E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 106420800 T A - - - - - - 30 0 0 58 5 8.6 43 3 7 86 22 25.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.718352941 0.718352941 1 0.482979351 0.482979351 1 1.062299213 1.062299213 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000115 1 0.001328364 1 2.98E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 106421067 A T - - - - - - 32 0 0 42 5 11.9 45 10 22.2 89 20 22.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.994 0.994 1 1.531734513 1.531734513 1 0.933661417 0.933661417 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000228 1 2.66E-14 1 2.72E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 107073621 A G - - - - - - 27 0 0 44 7 15.9 46 16 34.8 84 45 53.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.328117647 1.328117647 1 2.401097345 1.200548673 2 2.224188976 1.112094488 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.55E-09 1 1.31E-25 1 3.19E-80 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 107243482 G A - - - - - - 25 0 0 41 6 14.6 58 9 15.5 83 21 25.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.219529412 1.219529412 1 1.069454277 1.069454277 1 1.049850394 1.049850394 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.05E-08 1 1.67E-11 1 8.7E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 107273302 T C - - - - - - 35 0 0 38 8 21.1 41 17 41.5 80 38 47.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.762470588 1.762470588 1 2.863377581 1.431688791 2 1.971062992 0.985531496 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.67E-11 1 1.03E-28 1 2.89E-65 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 107809310 C A - - - - - - 39 0 0 29 5 17.2 46 4 8.7 79 22 27.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.436705882 1.436705882 1 0.600274336 0.600274336 1 1.153590551 1.153590551 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000336 1 0.0000862 1 3.56E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 109106283 C G - - - - - - 35 0 0 34 4 11.8 40 13 32.5 85 41 48.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.985647059 0.985647059 1 2.24240413 1.121202065 2 2.000110236 1.000055118 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 1.3E-20 1 1.16E-70 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 109640211 C T MYO16 CCDS32008.1 r.? - - intronic 33 0 0 44 7 15.9 46 4 8.7 80 22 27.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.328117647 1.328117647 1 0.600274336 0.600274336 1 1.141141732 1.141141732 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.55E-09 1 0.0000862 1 4.89E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 109960399 T C - - - - - - 28 0 0 38 6 15.8 34 14 41.2 90 42 46.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.319764706 1.319764706 1 2.842678466 1.421339233 2 1.937866142 0.968933071 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.76E-08 1 7.74E-24 1 1.53E-71 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 109999727 G T - - - - - - 34 0 0 30 5 16.7 51 10 19.6 80 23 28.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.394941176 1.394941176 1 1.352342183 1.352342183 1 1.190937008 1.190937008 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 1.04E-13 1 6.19E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 110866104 G A COL4A1 CCDS9511.1 r.? - - intronic 30 0 0 40 9 22.5 11 1 9.1 82 25 30.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.879411765 0.939705882 2 0.627873156 0.627873156 1 1.265629921 1.265629921 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.64E-13 1 0.05364542 1 1.71E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 111416072 C T - - - - - - 28 0 0 32 4 12.5 17 3 17.6 83 19 22.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.044117647 1.044117647 1 1.214348083 1.214348083 1 0.950259843 0.950259843 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 0.0000807 1 3.6E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 112657970 C A - - - - - - 32 0 0 39 8 20.5 52 15 28.8 68 35 51.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.712352941 1.712352941 1 1.987115044 0.993557522 2 2.137047244 1.068523622 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.09E-11 1 1.15E-22 1 6.85E-62 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 113122019 G T - - - - - - 30 0 0 36 6 16.7 15 2 13.3 64 18 28.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.394941176 1.394941176 1 0.917660767 0.917660767 1 1.16603937 1.16603937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.68E-08 1 0.002513772 1 1.1E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 113938102 G T - - - - - - 28 0 0 46 17 37 39 13 33.3 77 34 44.2 1 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.090588235 1.545294118 2 2.29760177 1.148800885 2 1.834125984 0.917062992 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.16E-27 1 8.79E-21 1 3.84E-57 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 103544399 T C COL11A1 CCDS779.1 r.621a>g c.303A>G p.I101M missense 29 0 0 36 9 25 33 3 9.1 64 27 42.2 33 0 0 153 19 12.4 156 25 16 1.61E-22 119 40 33.6 TRUE TRUE 1.838235294 1.838235294 1 0.521319099 0.521319099 1 1.329133858 1.329133858 1 0.911764706 0.911764706 1 0.916605009 0.916605009 1 1.058267717 1.058267717 1 9 12 1 1 1.63E-13 8.34E-21 0.000609557 9.02E-30 5.28E-45 4.72E-61 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 14 20304714 C G - - - - - - 59 0 0 71 6 8.5 77 7 9.1 116 14 12.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.625 0.625 1 0.536873156 0.536873156 1 0.381102362 0.381102362 1 NA NA 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000169 1 0.000000138 1 1.53E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 20666659 G A OR11G2 CCDS32032.1 r.? - - downstream 25 0 0 33 5 15.2 10 3 30 56 22 39.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.117647059 1.117647059 1 1.769911504 1.769911504 1 1.237795276 1.237795276 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 0.0000146 1 4.34E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 26055659 A G - - - - - - 31 0 0 35 4 11.4 42 7 16.7 67 18 26.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838235294 0.838235294 1 0.985250737 0.985250737 1 0.847244094 0.847244094 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000289 1 1.81E-09 1 2.83E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 26197653 T C - - - - - - 38 0 0 38 8 21.1 35 8 22.9 53 19 35.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.551470588 1.551470588 1 1.351032448 1.351032448 1 1.127559055 1.127559055 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.67E-11 1 8.15E-12 1 1.93E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 26408154 A G - - - - - - 26 0 0 36 4 11.1 43 0 0 68 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0 0 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.0000324 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 29506001 C G - - - - - - 32 0 0 34 6 17.6 33 7 21.2 38 17 44.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.118117647 1.118117647 1 1.038737463 1.038737463 1 0.960874016 0.960874016 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.86E-08 1 2.98E-10 1 1.99E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 30076955 C A PRKD1 CCDS9637.1 r.? - - intronic 28 0 0 35 6 17.1 21 6 28.6 40 17 42.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.086352941 1.086352941 1 1.401315634 1.401315634 1 0.913582677 0.913582677 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-08 1 7.95E-10 1 6.07E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 31074060 G A G2E3 CCDS9638.1 r.? - - intronic 26 0 0 29 8 27.6 23 6 26.1 39 19 48.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.753411765 1.753411765 1 1.278823009 1.278823009 1 1.046858268 1.046858268 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.53E-12 1 1.47E-09 1 1.2E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 136190520 C G - - - - - - 31 0 0 35 6 17.1 49 8 16.3 78 23 29.5 57 0 0 147 16 10.9 183 27 14.8 3.29E-23 162 40 24.7 TRUE TRUE 1.257352941 1.257352941 1 1.059795693 1.059795693 1 0.929133858 0.929133858 1 0.801470588 0.801470588 1 0.962268482 0.962268482 1 0.777952756 0.777952756 1 9 11 1 1 2.24E-08 8.02E-17 1.47E-10 5.22E-31 3.16E-34 7.64E-55 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 14 37082422 T A - - - - - - 43 0 0 38 3 7.9 25 7 28 37 15 40.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.501882353 0.501882353 1 1.371917404 1.371917404 1 0.870590551 0.870590551 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000925091 1 3.47E-11 1 2.58E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 41112708 A C - - - - - - 41 0 0 33 4 12.1 21 3 14.3 45 15 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.768705882 0.768705882 1 0.700657817 0.700657817 1 0.715818898 0.715818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 0.000155401 1 9.14E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 41748895 G A - - - - - - 30 0 0 41 10 24.4 31 7 22.6 47 23 48.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.550117647 1.550117647 1 1.107333333 1.107333333 1 1.05115748 1.05115748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.51E-15 1 1.85E-10 1 1.71E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 41991314 G C - - - - - - 27 0 0 30 7 23.3 35 8 22.9 40 18 45 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.480235294 1.480235294 1 1.122032448 1.122032448 1 0.967322835 0.967322835 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.44E-10 1 8.15E-12 1 3.9E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 43466588 T C - - - - - - 33 0 0 40 5 12.5 34 7 20.6 42 19 45.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 1.009339233 1.009339233 1 0.971622047 0.971622047 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000178 1 3.73E-10 1 7.64E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 43638445 C T - - - - - - 41 0 0 34 4 11.8 23 6 26.1 44 20 45.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.749647059 0.749647059 1 1.278823009 1.278823009 1 0.978070866 0.978070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 1.47E-09 1 1.5E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 44374907 G A - - - - - - 38 0 0 39 7 17.9 32 5 15.6 45 12 26.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.137176471 1.137176471 1 0.764353982 0.764353982 1 0.573944882 0.573944882 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.04E-09 1 0.000000562 1 6.03E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 44697049 C G - - - - - - 39 0 0 23 6 26.1 31 9 29 54 22 40.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.658117647 1.658117647 1 1.420914454 1.420914454 1 0.874889764 0.874889764 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.47E-09 1 3.57E-14 1 1.6E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 47467379 G T MDGA2 CCDS41948.1 r.? - - intronic 19 0 0 27 4 14.8 22 5 22.7 44 14 31.8 0 0 NA 3 0 0 0 0 NA 1 0 0 NA TRUE FALSE 0.940235294 0.940235294 1 1.112233038 1.112233038 1 0.683574803 0.683574803 1 0 0 1 NA NA 1 NA NA 1 9 NA 1 1 0.00001 1 7.67E-08 1 6.1E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 48218562 G T - - - - - - 15 0 0 21 6 28.6 23 8 34.8 41 18 43.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.816941176 1.816941176 1 1.705097345 1.705097345 1 0.943677165 0.943677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.95E-10 1 1.79E-13 1 6.91E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 50663811 T G SOS2 CCDS9697.1 r.? - - intronic 32 0 0 28 4 14.3 20 6 30 45 20 44.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 1.469911504 1.469911504 1 0.954425197 0.954425197 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000116 1 5.7E-10 1 2.68E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 54585445 C T - - - - - - 28 0 0 37 7 18.9 23 5 21.7 50 22 44 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.200705882 1.200705882 1 1.063235988 1.063235988 1 0.945826772 0.945826772 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.05E-10 1 9.75E-08 1 1.85E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 55386968 A G - - - - - - 26 0 0 31 7 22.6 35 5 14.3 47 22 46.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.435764706 1.435764706 1 0.700657817 0.700657817 1 1.006015748 1.006015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.85E-10 1 0.000000895 1 3.14E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 57615582 G C - - - - - - 36 0 0 30 5 16.7 38 9 23.7 54 22 40.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 1.161230088 1.161230088 1 0.874889764 0.874889764 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 2.79E-13 1 1.6E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 64778524 A G ESR2 CCDS32096.1 r.? - - intronic 27 0 0 34 11 32.4 27 3 11.1 37 18 48.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.058352941 2.058352941 1 0.543867257 0.543867257 1 1.044708661 1.044708661 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.26E-17 1 0.000334187 1 6.16E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 65205083 G T PLEKHG3 CCDS32098.1 r.? - - intronic 21 0 0 15 4 26.7 6 2 33.3 26 10 38.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.696235294 1.696235294 1 1.63160177 1.63160177 1 0.827598425 0.827598425 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000816 1 0.000370028 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 69387185 A C ACTN1 CCDS45130.1 r.? - - intronic 31 0 0 32 6 18.8 25 5 20 47 18 38.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.194352941 1.194352941 1 0.979941003 0.979941003 1 0.823299213 0.823299213 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.27E-08 1 0.000000153 1 1.52E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 69482908 G A - - - - - - 25 0 0 31 5 16.1 15 4 26.7 46 24 52.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.022823529 1.022823529 1 1.308221239 1.308221239 1 1.122094488 1.122094488 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000476 1 0.000000816 1 4.23E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 70749089 G T - - - - - - 22 0 0 30 4 13.3 19 3 15.8 50 29 58 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.844941176 0.844941176 1 0.774153392 0.774153392 1 1.246771654 1.246771654 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000154 1 0.000114071 1 1.13E-53 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146338836 C T CNTNAP2 CCDS5889.1 r.? - - intronic 44 0 0 42 5 11.9 53 7 13.2 84 21 25 181 0 0 633 40 6.3 512 52 10.2 6.96E-35 493 102 20.7 TRUE TRUE 0.875 0.875 1 0.858239457 0.858239457 1 0.787401575 0.787401575 1 0.463235294 0.463235294 1 0.663185035 1.101436742 0.602109054 0.651968504 0.651968504 1 9 8 1 1 0.00000228 1.99E-30 9.85E-09 1.5E-49 1.15E-29 1.79E-128 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 14 79258999 C A NRXN3 CCDS9870.1 r.? - - intronic 28 0 0 28 7 25 38 9 23.7 53 27 50.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.588235294 1.588235294 1 1.161230088 1.161230088 1 1.094149606 1.094149606 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.44E-11 1 2.79E-13 1 6.4E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 82442234 C A - - - - - - 30 0 0 23 4 17.4 33 7 21.2 45 17 37.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.105411765 1.105411765 1 1.038737463 1.038737463 1 0.812551181 0.812551181 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000513 1 2.98E-10 1 7.37E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 86058636 C T FLRT2 CCDS9877.1 r.? - - intronic 27 0 0 26 4 15.4 30 5 16.7 31 13 41.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.978352941 0.978352941 1 0.818250737 0.818250737 1 0.900685039 0.900685039 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000856 1 0.000000401 1 2.32E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 86366056 C T - - - - - - 34 0 0 30 6 20 44 10 22.7 42 21 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.270588235 1.270588235 1 1.112233038 1.112233038 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.37E-09 1 2.08E-14 1 2.32E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 87565655 G C - - - - - - 13 0 0 42 4 9.5 32 10 31.2 51 18 35.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.603529412 0.603529412 1 1.528707965 1.528707965 1 0.758811024 0.758811024 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000601 1 5.7E-16 1 9.1E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 87735858 C T - - - - - - 33 0 0 29 4 13.8 31 7 22.6 48 24 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.876705882 0.876705882 1 1.107333333 1.107333333 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000134 1 1.85E-10 1 1.71E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 88072924 G A - - - - - - 27 0 0 41 10 24.4 35 6 17.1 46 17 37 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.550117647 1.550117647 1 0.837849558 0.837849558 1 0.795354331 0.795354331 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.51E-15 1 2.24E-08 1 1.16E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 89771109 C A FOXN3 CCDS32138.1 r.? - - intronic 27 0 0 31 6 19.4 31 5 16.1 57 18 31.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.232470588 1.232470588 1 0.788852507 0.788852507 1 0.679275591 0.679275591 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.03E-08 1 0.000000476 1 9.84E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 91528243 C A RPS6KA5 CCDS9893.1 r.? - - upstream 35 0 0 34 4 11.8 33 4 12.1 53 27 50.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.749647059 0.749647059 1 0.592864307 0.592864307 1 1.094149606 1.094149606 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 0.0000228 1 6.4E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 92386309 G A FBLN5 CCDS9898.1 r.? - - intronic 29 0 0 32 4 12.5 31 13 41.9 51 31 60.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 2.052976401 2.052976401 1 1.30696063 1.30696063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 2.32E-22 1 3.28E-58 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 93781662 C G BTBD7 CCDS32146.1 r.? - - intronic 24 0 0 22 4 18.2 35 5 14.3 53 31 58.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.156235294 1.156235294 1 0.700657817 0.700657817 1 1.257519685 1.257519685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000425 1 0.000000895 1 1.94E-57 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 95689791 G C CLMN CCDS9933.1 r.? - - intronic 32 0 0 33 8 24.2 42 12 28.6 52 21 40.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.537411765 1.537411765 1 1.401315634 1.401315634 1 0.868440945 0.868440945 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.85E-12 1 2.35E-18 1 7.89E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 98259749 G T - - - - - - 35 0 0 28 5 17.9 36 2 5.6 45 21 46.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.137176471 1.137176471 1 0.274383481 0.274383481 1 1.003866142 1.003866142 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000279 1 0.014070883 1 1.6E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 105721015 C T BRF1 CCDS10001.1 r.? - - intronic 30 0 0 37 10 27 9 1 11.1 45 19 42.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.715294118 1.715294118 1 0.543867257 0.543867257 1 0.907133858 0.907133858 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.01E-15 1 0.044110422 1 4.11E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 20560151 G A - - - - - - 71 0 0 63 7 11.1 57 11 19.3 121 16 13.2 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.705176471 0.705176471 1 0.945643068 0.945643068 1 0.370531228 0.370531228 1 NA NA 0 NA NA 1 NA NA 1 7 NA 1 1 3.38E-08 1 7.29E-15 1 3.33E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 20756854 G A - - - - - - 19 0 0 32 6 18.8 1 1 100 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.194352941 1.194352941 1 4.899705015 4.899705015 1 0.415444105 0.631903684 0.657448461 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 1.27E-08 1 0.005 1 0.00001 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 22672260 T G - - - - - - 39 0 0 38 3 7.9 11 0 0 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.501882353 0.501882353 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 0.000925091 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 24120446 A T - - - - - - 33 0 0 34 7 20.6 34 8 23.5 37 15 40.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.308705882 1.308705882 1 1.151430678 1.151430678 1 0.870590551 0.870590551 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.73E-10 1 6.32E-12 1 2.58E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 24364922 A G - - - - - - 42 0 0 43 6 14 25 3 12 54 22 40.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889411765 0.889411765 1 0.587964602 0.587964602 1 0.874889764 0.874889764 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.13E-08 1 0.00026475 1 1.6E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 25278660 T A - - - - - - 20 0 0 25 4 16 25 9 36 35 15 42.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.016470588 1.016470588 1 1.763893805 1.763893805 1 0.922181102 0.922181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000727 1 3.71E-15 1 9.02E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 26647108 T C - - - - - - 35 0 0 33 4 12.1 38 11 28.9 40 14 35 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.768705882 0.768705882 1 1.416014749 1.416014749 1 0.752362205 0.752362205 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 5.19E-17 1 1.25E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 26668681 C T - - - - - - 30 0 0 46 9 19.6 42 5 11.9 52 25 48.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.245176471 1.245176471 1 0.583064897 0.583064897 1 1.03396063 1.03396063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.82E-12 1 0.00000228 1 1.25E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 26777393 G A - - - - - - 43 0 0 40 6 15 18 1 5.6 47 22 46.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.952941176 0.952941176 1 0.274383481 0.274383481 1 1.006015748 1.006015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.18E-08 1 0.086275114 1 3.14E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 26924558 G A GABRB3 CCDS10019.1 r.? - - intronic 35 0 0 28 9 32.1 35 8 22.9 53 21 39.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.039294118 2.039294118 1 1.122032448 1.122032448 1 0.851244094 0.851244094 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.24E-14 1 8.15E-12 1 1.3E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 29607403 A T FAM189A1 CCDS45198.1 r.? - - intronic 37 0 0 29 6 20.7 26 4 15.4 44 20 45.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.315058824 1.315058824 1 0.754554572 0.754554572 1 0.978070866 0.978070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.72E-09 1 0.00000856 1 1.5E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 29968635 C G - - - - - - 26 0 0 25 3 12 6 0 0 41 18 43.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.762352941 0.762352941 1 0 0 1 0.943677165 0.943677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00026475 1 1 1 6.91E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 32861594 T C - - - - - - 15 0 0 17 5 29.4 18 2 11.1 7 3 42.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.867764706 1.867764706 1 0.543867257 0.543867257 1 0.922181102 0.922181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.84E-08 1 0.003626632 1 0.00000431 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 41666532 G T NUSAP1 CCDS45234.1 r.? - - intronic 26 0 0 24 8 33.3 32 5 15.6 43 17 39.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.115529412 2.115529412 1 0.764353982 0.764353982 1 0.849094488 0.849094488 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.68E-13 1 0.000000562 1 2.84E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 41806568 G T RPAP1 CCDS10079.1 r.? - - downstream 31 0 0 29 8 27.6 30 6 20 53 28 52.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.753411765 1.753411765 1 0.979941003 0.979941003 1 1.134992126 1.134992126 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.53E-12 1 8.37E-09 1 2.98E-50 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 44844073 G T C2orf34 CCDS1820.1 r.? - - intronic 19 0 0 26 4 15.4 38 5 13.2 50 21 42 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.132352941 1.132352941 1 0.778761062 0.778761062 1 1.322834646 1.322834646 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000856 1 0.00000137 1 2.79E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 43496003 C G EPB42 CCDS10093.1 r.? - - intronic 30 0 0 22 4 18.2 27 5 18.5 66 18 27.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.156235294 1.156235294 1 NA NA 1 0.85984252 0.85984252 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 0.00000425 1 0.00000023 1 2.08E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 43496882 C G EPB42 CCDS10093.1 r.? - - intronic 30 0 0 27 5 18.5 36 5 13.9 64 19 29.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.175294118 1.175294118 1 NA NA 1 0.935433071 0.935433071 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 0.00000023 1 0.00000104 1 1.34E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 44637369 G A CASC4 CCDS10108.1 r.? - - intronic 19 0 0 36 6 16.7 8 3 37.5 48 11 22.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 2.212389381 2.212389381 1 0.721259843 0.721259843 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.68E-08 1 0.00000687 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 46370346 C T - - - - - - 33 0 0 28 6 21.4 33 4 12.1 64 25 39.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.573529412 1.573529412 1 0.713864307 0.713864307 1 1.231496063 1.231496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.36E-09 1 0.0000228 1 9.9E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 46396616 T C - - - - - - 37 0 0 35 5 14.3 23 3 13 67 19 28.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 0.766961652 0.766961652 1 0.894488189 0.894488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000895 1 0.000205387 1 3.67E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 47239481 C G - - - - - - 34 0 0 28 5 17.9 40 13 32.5 68 21 30.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.316176471 1.316176471 1 1.91740413 1.91740413 1 0.973228346 0.973228346 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000279 1 1.3E-20 1 7.15E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 53641036 C T - - - - - - 28 0 0 38 11 28.9 32 5 15.6 55 13 23.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.125 2.125 1 0.920353982 0.920353982 1 0.743307087 0.743307087 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.19E-17 1 0.000000562 1 1.46E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 54863086 C T UNC13C CCDS45264.1 r.? - - intronic 30 0 0 40 8 20 36 6 16.7 61 17 27.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 0.985250737 0.985250737 1 0.878740157 0.878740157 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.61E-11 1 2.68E-08 1 3.33E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 58667411 G A - - - - - - 32 0 0 41 6 14.6 47 6 12.8 80 19 23.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.073529412 1.073529412 1 0.755162242 0.755162242 1 0.749606299 0.749606299 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.05E-08 1 0.000000141 1 1.65E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 62072943 A G - - - - - - 27 0 0 24 7 29.2 38 9 23.7 62 24 38.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.147058824 2.147058824 1 1.398230088 1.398230088 1 1.218897638 1.218897638 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.51E-11 1 2.79E-13 1 4.81E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 62197628 G A VPS13C CCDS32257.1 r.? - - intronic 31 0 0 26 5 19.2 35 4 11.4 74 20 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.411764706 1.411764706 1 0.672566372 0.672566372 1 0.850393701 0.850393701 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000188 1 0.0000289 1 4.34E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 64688105 A T TRIP4 CCDS10194.1 r.? - - intronic 23 0 0 21 7 33.3 12 2 16.7 57 18 31.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.448529412 2.448529412 1 0.985250737 0.985250737 1 0.995275591 0.995275591 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.54E-12 1 0.001595918 1 9.84E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 65684374 G A IGDCC4 CCDS10206.1 r.? - - intronic 27 0 0 14 4 28.6 7 1 14.3 48 16 33.3 0 0 NA 0 0 NA 0 0 NA 1 2 2 100 TRUE FALSE 2.102941176 2.102941176 1 0.843657817 0.843657817 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 3.149606299 3.149606299 1 9 NA 1 1 0.000000601 1 0.034479353 1 2.96E-25 0.000025 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 68751827 C T - - - - - - 19 0 0 41 7 17.1 35 3 8.6 53 20 37.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.257352941 1.257352941 1 0.507374631 0.507374631 1 1.187401575 1.187401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.51E-09 1 0.000725791 1 1.65E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 69877238 C T - - - - - - 24 0 0 41 5 12.2 35 5 14.3 59 17 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.897058824 0.897058824 1 0.843657817 0.843657817 1 0.907086614 0.907086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000202 1 0.000000895 1 1.74E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 70583840 C G - - - - - - 42 0 0 45 4 8.9 13 3 23.1 77 32 41.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.654411765 0.654411765 1 1.362831858 1.362831858 1 1.31023622 1.31023622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000791 1 0.0000344 1 8.63E-53 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 71635833 C G THSD4 CCDS10238.2 r.? - - intronic 42 0 0 28 5 17.9 37 5 13.5 47 12 25.5 1 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.316176471 1.316176471 1 0.796460177 0.796460177 1 0.803149606 0.803149606 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000279 1 0.00000119 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 71795900 G A THSD4 CCDS10238.2 r.? - - intronic 27 0 0 42 8 19 24 0 0 74 23 31.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.397058824 1.397058824 1 0 0 1 0.979527559 0.979527559 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.96E-11 1 1 1 7.7E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 72129680 A C MYO9A CCDS10239.1 r.? - - intronic 32 0 0 37 6 16.2 33 9 27.3 71 22 31 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.191176471 1.191176471 1 1.610619469 1.610619469 1 0.976377953 0.976377953 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.18E-08 1 6.76E-14 1 2.34E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 75508852 G A C15orf39 CCDS10276.1 r.? - - downstream 33 0 0 29 4 13.8 3 1 33.3 56 14 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.014705882 1.014705882 1 1.96460177 1.96460177 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000134 1 0.014925125 1 2.91E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 76920138 G T SCAPER ENST00000303521 r.? - - intronic 34 0 0 24 6 25 56 8 14.3 59 19 32.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.838235294 1.838235294 1 0.843657817 0.843657817 1 1.014173228 1.014173228 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.95E-09 1 4.48E-10 1 2.2E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 77005317 T A SCAPER ENST00000303521 r.? - - intronic 22 0 0 36 3 8.3 23 0 0 62 3 4.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.610294118 0.610294118 1 0 0 1 0.151181102 0.151181102 1 NA NA 1 NA NA 1 NA NA 1 4 NA 1 1 0.000788827 1 1 1 0.003793816 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 81001174 C G FAM108C1 CCDS45323.1 r.? - - intronic 39 0 0 40 7 17.5 43 11 25.6 82 21 25.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.286764706 1.286764706 1 1.510324484 1.510324484 1 0.806299213 0.806299213 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.26E-09 1 2.42E-16 1 6.53E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 81503386 T G IL16 CCDS42069.1 r.? - - intronic 39 0 0 31 3 9.7 36 0 0 73 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.713235294 0.713235294 1 0 0 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.000505952 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 81555875 A G IL16 CCDS42069.1 r.? - - intronic 37 0 0 31 6 19.4 30 2 6.7 56 19 33.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.426470588 1.426470588 1 0.395280236 0.395280236 1 1.067716535 1.067716535 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.03E-08 1 0.009909649 1 6.79E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 81816993 T C - - - - - - 33 0 0 39 5 12.8 44 12 27.3 75 22 29.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.941176471 0.941176471 1 1.610619469 1.610619469 1 0.922834646 0.922834646 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000156 1 4.44E-18 1 9.55E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 82267220 A G - - - - - - 33 0 0 31 4 12.9 15 1 6.7 56 25 44.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.948529412 0.948529412 1 0.395280236 0.395280236 1 1.404724409 1.404724409 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000177 1 0.072431031 1 1.43E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 84739141 G A ENSG00000227595 ENST00000427381 r.? - - downstream 33 0 0 25 6 24 48 5 10.4 80 27 33.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.764705882 1.764705882 1 0.613569322 0.613569322 1 1.064566929 1.064566929 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.55E-09 1 0.00000447 1 8.87E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 87024513 T G AGBL1 ENST00000421325 r.? - - intronic 39 0 0 33 6 18.2 33 6 18.2 63 17 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.338235294 1.338235294 1 1.073746313 1.073746313 1 0.850393701 0.850393701 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.54E-08 1 1.54E-08 1 6.22E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 91927763 G T - - - - - - 36 0 0 35 10 28.6 36 3 8.3 84 35 41.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.102941176 2.102941176 1 0.489675516 0.489675516 1 1.313385827 1.313385827 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.6E-15 1 0.000788827 1 1.21E-57 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 91945073 T C - - - - - - 32 0 0 33 6 18.2 33 5 15.2 73 20 27.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.338235294 1.338235294 1 0.896755162 0.896755162 1 0.862992126 0.862992126 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.54E-08 1 0.00000066 1 3.18E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 94890045 G T MCTP2 CCDS32338.1 r.? - - intronic 28 0 0 33 5 15.2 36 6 16.7 45 14 31.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.117647059 1.117647059 1 0.985250737 0.985250737 1 0.979527559 0.979527559 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 2.68E-08 1 8.81E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 95222885 C G - - - - - - 33 0 0 44 4 9.1 33 6 18.2 48 20 41.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.669117647 0.669117647 1 1.073746313 1.073746313 1 1.313385827 1.313385827 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000723 1 1.54E-08 1 1.4E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 95364455 T G - - - - - - 31 0 0 28 5 17.9 29 4 13.8 47 14 29.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.316176471 1.316176471 1 0.814159292 0.814159292 1 0.938582677 0.938582677 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000279 1 0.0000134 1 1.79E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 96301644 T A - - - - - - 28 0 0 38 4 10.5 47 7 14.9 76 27 35.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.772058824 0.772058824 1 0.879056047 0.879056047 1 1.118110236 1.118110236 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000403 1 4.12E-09 1 1.67E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 99235241 T G IGF1R CCDS10378.1 r.? - - intronic 40 0 0 39 5 12.8 24 9 37.5 70 21 30 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.941176471 0.941176471 1 2.212389381 2.212389381 1 0.94488189 0.94488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000156 1 2.39E-15 1 1.45E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 100998294 G A LASS3 CCDS10384.1 r.? - - intronic 30 0 0 31 7 22.6 40 8 20 60 25 41.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.661764706 1.661764706 1 1.179941003 1.179941003 1 1.313385827 1.313385827 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.85E-10 1 2.61E-11 1 1.31E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 1681038 T G CRAMP1L CCDS10440.2 r.? - - intronic 34 0 0 30 5 16.7 15 2 13.3 74 28 37.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 0.784660767 0.784660767 1 1.472525267 0.843388495 1.74596319 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 0.002513772 1 5.88E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 5499415 C A - - - - - - 33 0 0 30 4 13.3 29 9 31 79 34 43 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.977941176 0.977941176 1 1.828908555 1.828908555 1 1.675094881 0.959410192 1.74596319 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000154 1 1.79E-14 1 1.18E-56 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 7013768 C T - - - - - - 27 0 0 42 8 19 11 4 36.4 89 24 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.397058824 1.397058824 1 2.147492625 2.147492625 1 1.051803762 1.051803762 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 3.96E-11 1 0.000000201 1 1.41E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 7031655 G T - - - - - - 37 0 0 30 4 13.3 39 7 17.9 86 36 41.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.977941176 0.977941176 1 1.056047198 1.056047198 1 1.632243616 0.934867141 1.74596319 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000154 1 1.04E-09 1 2.44E-59 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 7424426 G A ENSG00000078328 CCDS45405.1 r.? - - intronic 35 0 0 36 4 11.1 48 7 14.6 62 16 25.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.861356932 0.861356932 1 1.005056928 1.005056928 1 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 0.0000324 1 4.81E-09 1 3.36E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 8378982 C T - - - - - - 29 0 0 44 6 13.6 35 8 22.9 81 34 42 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1 1 1 1.351032448 1.351032448 1 1.636139186 0.937098328 1.74596319 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 9.37E-08 1 8.15E-12 1 3.52E-56 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 8763820 C A ABAT CCDS10534.1 r.? - - upstream 30 0 0 29 4 13.8 48 9 18.8 79 19 24.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.014705882 1.014705882 1 1.109144543 1.109144543 1 0.938832247 0.938832247 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000134 1 2.75E-12 1 1.27E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 8766830 C T ABAT CCDS10534.1 r.? - - upstream 36 0 0 40 6 15 34 2 5.9 91 25 27.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.102941176 1.102941176 1 0.348082596 0.348082596 1 1.07128161 1.07128161 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 5.18E-08 1 0.012612579 1 3.47E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 9073994 A C - - - - - - 29 0 0 33 7 21.2 19 2 10.5 68 15 22.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.558823529 1.558823529 1 0.619469027 0.619469027 1 0.860920857 0.860920857 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 2.98E-10 1 0.004039874 1 1.06E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 12545873 A G SNX29 CCDS45416.1 r.? - - intronic 37 0 0 33 6 18.2 31 2 6.5 75 30 40 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.338235294 1.338235294 1 0.383480826 0.383480826 1 1.558227796 0.892474598 1.74596319 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 1.54E-08 1 0.010558179 1 5.85E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 16011200 G T - - - - - - 29 0 0 29 4 13.8 23 3 13 63 14 22.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.014705882 1.014705882 1 0.766961652 0.766961652 1 0.864816427 0.864816427 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000134 1 0.000205387 1 1.81E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 16142523 A G ABCC1 CCDS42122.1 r.? - - intronic 34 0 0 34 9 26.5 21 3 14.3 90 41 45.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.948529412 1.948529412 1 0.843657817 0.843657817 1 1.776379687 1.017421041 1.74596319 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.15E-14 1 0.000155401 1 2.61E-69 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 16676559 G T - - - - - - 17 0 0 15 4 26.7 22 0 0 43 6 14 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.963235294 1.963235294 1 0 0 1 0.545379729 0.545379729 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000000816 1 1 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 17071167 G A - - - - - - 29 0 0 35 5 14.3 19 5 26.3 73 27 37 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 1.551622419 1.551622419 1 1.441360711 0.825539003 1.74596319 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000000895 1 3.43E-08 1 4.45E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 17478284 G A XYLT1 CCDS10569.1 r.? - - intronic 36 0 0 35 6 17.1 36 5 13.9 100 42 42 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.257352941 1.257352941 1 0.820058997 0.820058997 1 1.636139186 0.937098328 1.74596319 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 2.24E-08 1 0.00000104 1 4.84E-69 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 19937341 G A - - - - - - 38 0 0 27 6 22.2 30 8 26.7 72 25 34.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.632352941 1.632352941 1 1.575221239 1.575221239 1 1.351762613 1.351762613 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 4.23E-09 1 2.07E-12 1 3.63E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 21023824 A C DNAH3 CCDS10594.1 r.? - - intronic 29 0 0 35 6 17.1 52 15 28.8 90 27 30 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.257352941 1.257352941 1 1.699115044 1.699115044 1 1.168670847 1.168670847 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 2.24E-08 1 1.15E-22 1 3.78E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 23325085 A T SCNN1B CCDS10609.1 r.? - - intronic 24 0 0 32 4 12.5 19 3 15.8 99 24 24.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 0.932153392 0.932153392 1 0.942727817 0.942727817 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 0.000114071 1 2.52E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 24629521 C T - - - - - - 39 0 0 38 5 13.2 22 3 13.6 62 21 33.9 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.970588235 0.970588235 1 0.802359882 0.802359882 1 1.067716535 1.067716535 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000137 1 0.000179267 1 7.22E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 24836063 G T TNRC6A CCDS10624.2 r.6953g>u c.? p.? 3'UTR variant 32 0 0 26 7 26.9 44 6 13.6 60 17 28.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.977941176 1.977941176 1 0.802359882 0.802359882 1 0.891338583 0.891338583 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.73E-11 1 9.37E-08 1 2.41E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 32640937 T C - - - - - - 65 0 0 68 5 7.4 59 3 5.1 115 1 0.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.576660485 0.576660485 1 0.300884956 0.300884956 1 0.028346457 0.028346457 1 NA NA 0 NA NA 1 NA NA 1 8 NA 1 1 0.0000251 1 0.003297476 1 0.438106141 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 33556141 G A - - - - - - 63 0 0 63 6 9.5 66 3 4.5 139 27 19.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.740307379 0.740307379 1 0.265486726 0.265486726 1 0.611023622 0.611023622 1 NA NA 0 NA NA 1 NA NA 1 5 NA 1 1 0.000000832 1 0.004522888 1 1.94E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 33600181 C T - - - - - - 76 0 0 60 9 15 84 22 26.2 122 31 25.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.168906388 1.168906388 1 1.545722714 1.545722714 1 0.8 0.8 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 2.29E-11 1 1.66E-31 1 2.66E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 33642128 G A - - - - - - 50 0 0 50 6 12 66 10 15.2 128 50 39.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.935125111 0.935125111 1 0.896755162 0.896755162 1 1.231496063 1.231496063 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000000206 1 1.6E-12 1 6.78E-80 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 33930572 T C - - - - - - 89 0 0 108 7 6.5 114 12 10.5 178 16 9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.506526102 1.151802795 0.439768078 0.619469027 0.619469027 1 0.283464567 0.283464567 1 NA NA 0 NA NA 1 NA NA 1 7 NA 1 1 0.0000014 1 8.42E-13 1 1.72E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 34724732 T A - - - - - - 34 0 0 40 9 22.5 37 4 10.8 61 18 29.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.753359582 1.753359582 1 0.637168142 0.637168142 1 0.929133858 0.929133858 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 4.64E-13 1 0.0000362 1 4.08E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 49016128 A G - - - - - - 36 0 0 23 6 26.1 35 7 20 75 18 24 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.033897116 2.033897116 1 1.179941003 1.179941003 1 0.755905512 0.755905512 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 1.47E-09 1 4.65E-10 1 2.78E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 55035270 C T - - - - - - 31 0 0 39 4 10.3 36 5 13.9 57 20 35.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.802649053 0.802649053 1 0.760029639 0.760029639 1 1.105511811 1.105511811 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.0000447 1 0.00000104 1 9.67E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 56961504 C T HERPUD1 CCDS45492.1 r.? - - upstream 30 0 0 36 9 25 31 6 19.4 79 16 20.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.948177314 1.353118841 1.439768078 1.060760791 1.060760791 1 0.639370079 0.639370079 1 NA NA 0 NA NA 0 NA NA 0 9 NA 1 1 1.63E-13 1 1.03E-08 1 2.45E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 61898535 G A CDH8 CCDS10802.1 r.? - - intronic 14 0 0 36 4 11.1 28 7 25 81 44 54.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.864990727 0.864990727 1 1.366959782 1.366959782 1 2.197435401 1.098717701 2 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.0000324 1 8.44E-11 1 7.51E-79 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 61903404 T A CDH8 CCDS10802.1 r.? - - intronic 30 0 0 47 4 8.5 45 3 6.7 83 18 21.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.662380287 0.662380287 1 0.366345222 0.644821728 0.568134115 0.878164792 0.878164792 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.0000939 1 0.001516071 1 2.09E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 62944809 T C - - - - - - 29 0 0 41 7 17.1 46 5 10.9 87 25 28.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.332553283 1.332553283 1 0.595994465 0.595994465 1 1.161443757 1.161443757 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 1.51E-09 1 0.00000361 1 9.55E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 58696934 G T - - - - - - 42 0 0 37 4 10.8 42 2 4.8 53 20 37.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 0.283185841 0.283185841 1 1.187401575 1.187401575 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.0000362 1 0.018854633 1 1.65E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 63330733 C A - - - - - - 33 0 0 28 7 25 34 8 23.5 73 42 57.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.948177314 1.948177314 1 1.284942195 1.284942195 1 2.326934357 1.163467178 2 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 8.44E-11 1 6.32E-12 1 7.56E-77 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 63428350 G C - - - - - - 35 0 0 43 4 9.3 31 2 6.5 81 18 22.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.724721961 0.724721961 1 0.355409543 0.355409543 1 0.898399004 0.898399004 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.000066 1 0.010558179 1 1.29E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 63736662 C A - - - - - - 28 0 0 34 4 11.8 42 5 11.9 67 19 28.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919539692 0.919539692 1 0.650672856 0.650672856 1 1.14930323 1.14930323 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.0000257 1 0.00000228 1 3.67E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 63896300 C T - - - - - - 29 0 0 26 4 15.4 46 4 8.7 70 16 22.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.200077225 1.200077225 1 0.475702004 0.475702004 1 0.9267269 0.9267269 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.00000856 1 0.0000862 1 2.93E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 63968187 C T - - - - - - 31 0 0 39 5 12.8 44 5 11.4 73 17 23.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.997466785 0.997466785 1 0.623333661 0.623333661 1 0.94291427 0.94291427 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.00000156 1 0.00000288 1 1.03E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 64282936 T A - - - - - - 29 0 0 23 4 17.4 34 4 11.8 60 14 23.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.35593141 1.35593141 1 0.645205017 0.645205017 1 0.94291427 0.94291427 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.00000513 1 0.0000257 1 8.54E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 64752002 A C - - - - - - 24 0 0 31 6 19.4 35 6 17.1 64 10 15.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.511785595 1.511785595 1 0.935000491 0.935000491 1 0.631307408 0.631307408 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 1.03E-08 1 2.24E-08 1 1.16E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 64773104 C G - - - - - - 37 0 0 28 3 10.7 43 8 18.6 97 15 15.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.83381989 0.83381989 1 1.017018078 1.017018078 1 0.627260566 0.699103161 0.89723606 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.000372895 1 4.85E-11 1 3.21E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 65650493 C T - - - - - - 31 0 0 42 7 16.7 41 7 17.1 92 36 39.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.301382446 1.301382446 1 0.935000491 0.935000491 1 1.582315363 0.791157681 2 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 1.81E-09 1 1.51E-09 1 5.21E-58 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 65958440 G A - - - - - - 25 0 0 33 6 18.2 34 8 23.5 75 13 17.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.418273084 1.418273084 1 1.284942195 1.284942195 1 0.700103728 0.700103728 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 1.54E-08 1 6.32E-12 1 1.16E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 66665501 C T CMTM4 CCDS42170.1 r.? - - intronic 31 0 0 23 4 17.4 28 6 21.4 66 9 13.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.35593141 1.35593141 1 1.170117574 1.170117574 1 0.550370561 0.613406644 0.89723606 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.00000513 1 5.36E-09 1 5.59E-11 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 66903261 T A - - - - - - 39 0 0 33 7 21.2 25 5 20 95 21 22.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.652054362 1.652054362 1 1.093567826 1.093567826 1 0.894352161 0.894352161 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 2.98E-10 1 0.000000153 1 2.05E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 68512459 A T - - - - - - 29 0 0 41 6 14.6 40 5 12.5 93 21 22.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.137735551 1.137735551 1 0.683479891 0.683479891 1 0.914586373 0.914586373 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 6.05E-08 1 0.00000178 1 1.25E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 68853775 T C CDH1 CCDS10869.1 r.? - - intronic 36 0 0 37 4 10.8 32 6 18.8 94 12 12.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.8416126 0.8416126 1 1.027953756 1.027953756 1 0.517995822 0.517995822 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.0000362 1 1.27E-08 1 7.98E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 69657382 C G MIR1538 CCDS10882.1 r.? - - intronic 40 0 0 35 5 14.3 32 6 18.8 91 29 31.9 0 0 NA 0 0 NA 1 1 100 0.01 0 0 NA TRUE FALSE 1.114357423 1.114357423 1 1.027953756 1.027953756 1 1.290942713 1.290942713 1 NA NA 0 5.46783913 5.46783913 1 NA NA 1 9 NA 1 1 0.000000895 1 1.27E-08 0.005 6.7E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 71652983 C T - - - - - - 31 0 0 34 9 26.5 41 9 22 77 24 31.2 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 2.065067953 1.434305972 1.439768078 1.202924609 1.202924609 1 1.262614816 1.262614816 1 NA NA 0 0 NA 0 NA NA 1 9 NA 1 1 9.15E-14 1 5.92E-13 1 2.53E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 72306603 T A - - - - - - 23 0 0 28 4 14.3 36 3 8.3 92 20 21.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.114357423 1.114357423 1 0.453830648 0.453830648 1 0.878164792 0.878164792 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000116 1 0.000788827 1 5.65E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 73598720 C G - - - - - - 29 0 0 45 5 11.1 41 6 14.6 91 23 25.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.864990727 0.864990727 1 0.798304513 0.798304513 1 1.023851117 1.023851117 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.00000323 1 6.05E-08 1 1.81E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 76209425 C G - - - - - - 30 0 0 28 4 14.3 29 2 6.9 74 14 18.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.114357423 1.114357423 1 0.3772809 0.3772809 1 0.764853206 0.764853206 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.0000116 1 0.009279585 1 2.1E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 78880658 A T WWOX CCDS42196.1 r.? - - intronic 33 0 0 31 6 19.4 36 7 19.4 80 19 23.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.511785595 1.511785595 1 1.060760791 1.060760791 1 0.963148482 0.963148482 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 1.03E-08 1 5.74E-10 1 1.65E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 81449980 T G - - - - - - 33 0 0 34 7 20.6 30 3 10 89 20 22.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.605298106 1.605298106 1 0.546783913 0.546783913 1 0.910539531 0.910539531 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 3.73E-10 1 0.000458697 1 2.72E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 82179939 C T MPHOSPH6 CCDS10937.1 r.? - - downstream 27 0 0 46 9 19.6 43 6 14 78 18 23.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.527371014 1.527371014 1 0.765497478 0.765497478 1 0.934820585 0.934820585 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 1.82E-12 1 8.13E-08 1 6.1E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 82215442 C T - - - - - - 40 0 0 47 5 10.6 50 13 26 96 27 28.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.826027181 0.826027181 1 1.421638174 1.421638174 1 1.137162703 1.137162703 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000402 1 3.65E-19 1 2.84E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 82229623 G C - - - - - - 35 0 0 36 6 16.7 45 7 15.6 83 16 19.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.301382446 1.301382446 1 0.852982904 0.852982904 1 0.781040575 0.781040575 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 2.68E-08 1 0.000000003 1 5.75E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 86364500 C A ENSG00000168367 ENST00000304488 r.? - - downstream 36 0 0 32 6 18.8 27 6 22.2 78 41 52.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.46502934 1.46502934 1 1.213860287 1.213860287 1 2.128639081 1.064319541 2 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 1.27E-08 1 4.23E-09 1 9.33E-73 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 86408249 A C - - - - - - 35 0 0 37 3 8.1 41 1 2.4 84 18 21.4 163 0 0 63 10 15.9 65 7 10.8 4.19E-06 60 14 23.3 FALSE TRUE 0.63120945 0.63120945 1 0.131228139 NA 0 0.866024265 0.866024265 1 1.239040772 1.239040772 1 0.590526626 0.590526626 1 0.94291427 0.94291427 1 NA 11 1 1 0.000855237 9.81E-13 0.18577148 4.22E-08 2.65E-24 8.54E-20 YES 1_1 0_1 1_1 somatic custom.pulldown.HiSeq PD9777b 16 86527422 C T AC125792.1 ENST00000501311 r.? - - intronic 24 0 0 22 4 18.2 20 1 5 80 16 20 1 0 0 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.418273084 1.418273084 1 0.273391956 NA 0 0.809368472 0.809368472 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.00000425 1 0.09538952 1 3.04E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 86858922 G C - - - - - - 32 0 0 29 4 13.8 16 0 0 76 18 23.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.075393877 1.075393877 1 0 NA 0 0.959101639 0.959101639 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.0000134 1 1 1 3.63E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 88271128 C T - - - - - - 50 0 0 72 6 8.3 8 0 0 105 2 1.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.646794868 0.646794868 1 0 NA 0 0.076890005 0.076890005 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.00000184 1 1 1 0.097506702 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 5851539 G A - - - - - - 32 0 0 28 5 17.9 25 6 24 49 28 57.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.137176471 1.137176471 1 1.230520449 1.230520449 1 1.227425197 1.227425197 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000279 1 2.55E-09 1 1.31E-51 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146342235 G A CNTNAP2 CCDS5889.1 r.? - - intronic 28 0 0 47 5 10.6 43 6 14 81 25 30.9 103 0 0 456 46 10.1 434 32 7.4 5.93E-18 507 87 17.2 TRUE TRUE 0.779411765 0.779411765 1 0.91025397 0.91025397 1 0.973228346 0.973228346 1 0.742647059 0.742647059 1 0.481134241 0.799081558 0.602109054 0.541732283 0.541732283 1 9 8 1 1 0.00000402 6.78E-44 8.13E-08 9.77E-27 1.2E-37 3.27E-102 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 17 8319317 C T - - - - - - 29 0 0 34 6 17.6 21 8 38.1 45 21 46.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.118117647 1.118117647 1 1.953451212 1.591453578 1.227463521 1.003866142 1.003866142 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.86E-08 1 7.5E-14 1 1.6E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 10611283 C A C17orf48 CCDS11159.2 r.? - - intronic 36 0 0 33 6 18.2 16 4 25 49 18 36.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.156235294 1.156235294 1 1.281792134 1.281792134 1 0.788905512 0.788905512 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.54E-08 1 0.00000108 1 3.8E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 12235495 G C - - - - - - 35 0 0 27 3 11.1 38 9 23.7 46 20 43.5 0 0 NA 1 0 0 0 0 NA 1 0 0 NA TRUE FALSE 0.705176471 0.705176471 1 1.215138943 1.215138943 1 0.93507874 0.93507874 1 0 0 1 NA NA 0 NA NA 1 9 NA 1 1 0.000334187 1 2.79E-13 1 4.72E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 12781666 T C ENSG00000006740 CCDS45616.1 r.? - - intronic 47 0 0 27 5 18.5 36 8 22.2 48 19 39.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.175294118 1.175294118 1 1.138231415 1.138231415 1 0.851244094 0.851244094 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000023 1 1.04E-11 1 1.92E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146342310 G C CNTNAP2 CCDS5889.1 r.? - - intronic 41 0 0 31 4 12.9 56 6 10.7 87 28 32.2 212 1 0.5 472 31 6.6 463 34 7.3 6.38E-19 560 117 20.9 TRUE TRUE 0.948529412 0.948529412 1 0.695694105 0.695694105 1 1.014173228 1.014173228 1 0.485294118 0.485294118 1 0.474632427 0.788283158 0.602109054 0.658267717 0.658267717 1 9 8 1 0.654464146 0.0000177 1.9E-24 0.000000409 3.01E-28 1.4E-42 1.23E-147 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 17 15429548 C T FAM18B2 CCDS11170.1 r.? - - intronic 27 0 0 22 7 31.8 28 5 17.9 38 19 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.020235294 2.020235294 1 0.917763168 0.917763168 1 1.07480315 1.07480315 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.25E-11 1 0.000000279 1 6.16E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 16467570 G A ZNF287 CCDS11179.2 r.? - - intronic 25 0 0 21 4 19 36 5 13.9 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.207058824 1.207058824 1 0.712676427 0.712676427 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 7 NA 1 1 0.00000349 1 0.00000104 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 16700680 G A - - - - - - 44 0 0 46 6 13 40 7 17.5 69 20 29 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.825882353 0.825882353 1 0.897254494 0.897254494 1 0.623385827 0.623385827 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000123 1 1.26E-09 1 8.73E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 21168878 C T - - - - - - 28 0 0 33 4 12.1 14 6 42.9 38 27 71.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.768705882 0.768705882 1 2.199555302 1.791951666 1.227463521 1.528370079 1.528370079 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000228 1 4.53E-11 1 8.5E-54 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 29391114 A T - - - - - - 30 0 0 45 6 13.3 35 3 8.6 86 25 29.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.951074439 0.951074439 1 0.335374631 0.335374631 1 0.916535433 0.916535433 1 NA NA 1 NA NA 0 NA NA 1 6 NA 1 1 0.000000108 1 0.000725791 1 6.84E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 30323451 T C SUZ12P CCDS11270.1 r.? - - intronic 29 0 0 25 5 20 22 0 0 68 20 29.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.430187126 1.430187126 1 0 NA 0 0.925984252 0.925984252 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.000000153 1 1 1 6.23E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 31983514 T G ACCN1 CCDS42296.1 r.? - - intronic 26 0 0 31 4 12.9 37 8 21.6 67 7 10.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.922470696 0.922470696 1 0.842336283 0.842336283 1 0.327559055 0.327559055 1 NA NA 1 NA NA 0 NA NA 1 7 NA 1 1 0.0000177 1 1.33E-11 1 5.23E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 35067477 C T - - - - - - 32 0 0 38 6 15.8 36 2 5.6 50 14 28 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.129847829 1.129847829 1 0.218383481 0.218383481 1 0.881889764 0.881889764 1 NA NA 1 NA NA 0 NA NA 1 6 NA 1 1 3.76E-08 1 0.014070883 1 4.84E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 36953108 A C PIP4K2B CCDS11329.1 r.? - - intronic 40 0 0 39 6 15.4 33 9 27.3 67 16 23.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.101244087 1.101244087 1 1.064619469 1.064619469 1 0.752755906 0.752755906 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 4.43E-08 1 6.76E-14 1 1.35E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 38064369 T A GSDMB CCDS11354.1 r.? - - intronic 39 0 0 29 7 24.1 38 6 15.8 62 21 33.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.723375487 1.723375487 1 0.616153392 0.616153392 1 1.067716535 1.067716535 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.11E-10 1 3.76E-08 1 7.22E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 42801127 A C DBF4B CCDS11485.1 r.? - - intronic 31 0 0 35 3 8.6 33 0 0 68 1 1.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.614980464 0.614980464 1 0 NA 0 0.047244094 0.047244094 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.000725791 1 1 1 0.288836448 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 46848759 G C TTLL6 CCDS45724.1 r.? - - intronic 29 0 0 31 4 12.9 45 8 17.8 70 20 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.922470696 0.922470696 1 0.694147493 0.694147493 1 0.900787402 0.900787402 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000177 1 7.14E-11 1 1.22E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 47374888 G A ZNF652 CCDS32677.1 r.3027c>u c.? p.? 3'UTR variant 30 0 0 25 6 24 44 4 9.1 68 23 33.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.716224551 1.716224551 1 0.354873156 0.354873156 1 1.064566929 1.064566929 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.55E-09 1 0.0000723 1 7.7E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146342408 G C CNTNAP2 CCDS5889.1 r.? - - intronic 30 0 0 40 5 12.5 50 11 22 66 19 28.8 197 0 0 381 26 6.8 405 31 7.7 6.70E-18 486 112 23 TRUE TRUE 0.919117647 0.919117647 1 1.430399095 1.430399095 1 0.907086614 0.907086614 1 0.5 0.5 1 0.500639683 0.831476756 0.602109054 0.724409449 0.724409449 1 9 8 1 1 0.00000178 3.54E-21 1.52E-15 1.93E-26 2.64E-28 1.12E-146 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 17 49165417 T G SPAG9 CCDS45740.1 r.? - - intronic 39 0 0 44 8 18.2 38 8 21.1 60 17 28.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.301470285 1.301470285 1 0.822837758 0.822837758 1 0.891338583 0.891338583 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 5.9E-11 1 1.67E-11 1 2.41E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 49210348 C T - - - - - - 42 0 0 44 5 11.4 38 11 28.9 88 28 31.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.815206662 0.815206662 1 1.127014749 1.127014749 1 1.001574803 1.001574803 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000288 1 5.19E-17 1 2.04E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146344048 G C CNTNAP2 CCDS5889.1 r.? - - intronic 24 0 0 41 5 12.2 63 2 3.2 67 13 19.4 145 0 0 290 22 7.6 404 42 10.4 6.60E-29 420 81 19.3 TRUE TRUE 0.897058824 0.897058824 1 0.20805805 0.345548782 0.602109054 0.611023622 0.611023622 1 0.558823529 0.558823529 1 0.676188663 1.123033541 0.602109054 0.607874016 0.607874016 1 9 8 1 1 0.00000202 3.87E-19 0.03993132 8.89E-41 2.41E-17 1.05E-99 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 8 50604808 T G - - - - - - 34 0 0 37 4 10.8 48 6 12.5 88 21 23.9 26 0 0 188 16 8.5 253 30 11.9 8.95E-23 291 52 17.9 TRUE TRUE 0.902117647 0.902117647 1 0.862463127 0.862463127 1 0.971484562 0.971484562 1 0.71 0.71 1 0.821064897 0.821064897 1 0.727597225 0.795029509 0.915182665 9 11 1 1 0.0000362 4.1E-15 0.00000016 2.47E-31 3.45E-29 8.8E-63 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 17 51121053 A C - - - - - - 35 0 0 35 7 20 55 7 12.7 81 17 21 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.628738632 1.628738632 1 0.876262537 0.876262537 1 0.851582796 0.851582796 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 4.65E-10 1 1.28E-08 1 7.24E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 51649960 T A - - - - - - 27 0 0 40 5 12.5 40 3 7.5 84 26 31 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.017961645 1.017961645 1 0.517477876 0.517477876 1 1.257098413 1.257098413 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00000178 1 0.001075403 1 3.94E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 51792239 G C - - - - - - 29 0 0 46 8 17.4 37 2 5.4 60 15 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.41700261 1.41700261 1 0.372584071 0.372584071 1 1.013789043 1.013789043 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.61E-11 1 0.014826063 1 1.31E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 52017509 G T - - - - - - 32 0 0 35 4 11.4 24 0 0 68 17 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.92838102 0.92838102 1 0 0 1 1.013789043 1.013789043 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000289 1 1 1 2.69E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 52100022 G A - - - - - - 28 0 0 27 7 25.9 35 2 5.7 84 14 16.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.109216528 1.054608264 2 0.393283186 0.393283186 1 0.677211081 0.677211081 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 6.36E-11 1 0.013332991 1 1.4E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 52135600 G A - - - - - - 20 0 0 27 4 14.8 15 2 13.3 64 16 25 0 0 NA 2 0 0 0 0 NA 1 0 0 NA TRUE FALSE 1.205266588 1.205266588 1 0.917660767 0.917660767 1 1.013789043 1.013789043 1 0 NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00001 1 0.002513772 1 5.94E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 52293947 C A - - - - - - 32 0 0 53 9 17 39 5 12.8 82 17 20.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.384427837 1.384427837 1 0.883162242 0.883162242 1 0.839417328 0.839417328 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 7.1E-12 1 0.00000156 1 9.09E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 52521620 C T - - - - - - 26 0 0 31 6 19.4 40 6 15 98 26 26.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.579876473 1.579876473 1 1.034955752 1.034955752 1 1.074616386 1.074616386 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 1.03E-08 1 5.18E-08 1 4.02E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 53256728 G C - - - - - - 33 0 0 42 7 16.7 43 9 20.9 85 21 24.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.359996758 1.359996758 1 1.442038348 1.442038348 1 1.001623574 1.001623574 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 1.81E-09 1 9.45E-13 1 1.53E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 55500235 T A MSI2 CCDS11597.1 r.? - - intronic 44 1 2.3 37 10 27 31 6 19.4 74 25 33.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.985294118 0.992647059 2 1.170991726 1.170991726 1 1.064566929 1.064566929 1 NA NA 1 NA NA 0 NA NA 1 9 NA 0.197923942 1 3.01E-15 1 1.03E-08 1 8.25E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 58903315 T A BCAS3 CCDS45749.1 r.? - - intronic 34 0 0 33 6 18.2 30 3 10 56 23 41.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.338235294 1.338235294 1 0.603603983 0.603603983 1 1.294488189 1.294488189 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.54E-08 1 0.000458697 1 3.22E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 59146243 G T BCAS3 CCDS45749.1 r.? - - intronic 35 0 0 41 4 9.8 38 5 13.2 64 19 29.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.720588235 0.720588235 1 0.796757257 0.796757257 1 0.935433071 0.935433071 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000546 1 0.00000137 1 1.34E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 59221730 G A BCAS3 CCDS45749.1 r.? - - intronic 37 0 0 41 8 19.5 47 5 10.6 84 24 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.433823529 1.433823529 1 0.639820222 0.639820222 1 0.900787402 0.900787402 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.22E-11 1 0.00000402 1 2.87E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 60146746 A G MED13 CCDS42366.1 r.? - - upstream 30 0 0 37 10 27 19 9 47.4 68 43 63.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.985294118 0.992647059 2 2.861082878 1.339248353 2.136334811 1.990551181 0.995275591 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.01E-15 1 1.72E-16 1 2.66E-81 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 66037922 A T KPNA2 CCDS32713.1 r.? - - intronic 25 0 0 50 8 16 34 6 17.6 74 34 45.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.176470588 1.176470588 1 1.062343009 1.062343009 1 1.445669291 0.722834646 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.74E-10 1 1.86E-08 1 6.58E-58 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 66960918 A G - - - - - - 25 0 0 32 4 12.5 24 1 4.2 55 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.919117647 0.919117647 1 0.253513673 NA 0 0 0 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.0000201 1 0.113346489 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 68326543 T C - - - - - - 24 0 0 23 6 26.1 41 5 12.2 71 21 29.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.919117647 1.919117647 1 0.736396859 0.736396859 1 0.932283465 0.932283465 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.47E-09 1 0.00000202 1 2.05E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 68647566 G T - - - - - - 34 0 0 31 4 12.9 40 0 0 63 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.948529412 0.948529412 1 0 NA 0 0 0 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.0000177 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 77088908 C G ENGASE CCDS42394.1 r.? - - downstream 36 0 0 32 8 25 20 7 35 59 40 67.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.838235294 1.838235294 1 2.112613939 0.988896463 2.136334811 2.135433071 1.067716535 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.69E-12 1 5.72E-12 1 1.16E-77 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 78104181 T G EIF4A3 CCDS11767.1 r.? - - downstream 36 0 0 39 12 30.8 42 17 40.5 58 34 58.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.264705882 1.132352941 2 2.44459613 1.144294479 2.136334811 1.845669291 0.922834646 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 8.43E-19 1 1.73E-28 1 6.65E-63 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 78148973 C T CARD14 CCDS11768.1 r.? - - upstream 25 0 0 23 9 39.1 24 9 37.5 52 35 67.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.875 1.4375 2 2.263514935 1.059531925 2.136334811 2.119685039 1.05984252 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.5E-15 1 2.39E-15 1 5.88E-68 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 79497300 G C FSCN2 CCDS45810.1 r.? - - intronic 28 0 0 32 7 21.9 0 0 NA 42 9 21.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.610294118 1.610294118 1 NA NA 0 0.674015748 0.674015748 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 2.36E-10 1 1 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 80154788 G A CCDC57 ENST00000445854 r.? - - intronic 18 1 5.6 14 4 28.6 3 0 0 31 9 29 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 0.086275114 1 0.000000601 1 1 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 81045316 C A METRNL CCDS32779.1 r.? - - intronic 22 0 0 34 6 17.6 1 0 0 52 20 38.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 1.86E-08 1 1 1 1.03E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 5363099 A C - - - - - - 19 0 0 38 8 21.1 25 3 12 69 33 47.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.340470588 1.340470588 1 0.587964602 0.587964602 1 1.027511811 1.027511811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.67E-11 1 0.00026475 1 5.18E-57 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 5740697 G T - - - - - - 30 0 0 28 5 17.9 21 4 19 39 20 51.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.137176471 1.137176471 1 0.930943953 0.930943953 1 1.102748031 1.102748031 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000279 1 0.00000349 1 6E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 8146309 G A PTPRM CCDS11840.1 r.? - - intronic 35 0 0 31 7 22.6 22 5 22.7 44 28 63.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.435764706 1.435764706 1 1.112233038 1.112233038 1 1.367149606 1.367149606 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.85E-10 1 7.67E-08 1 1.44E-53 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 11983146 C T IMPA2 CCDS11855.1 r.? - - intronic 24 0 0 29 7 24.1 27 4 14.8 55 28 50.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.531058824 1.531058824 1 0.725156342 0.725156342 1 1.094149606 1.094149606 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.11E-10 1 0.00001 1 1.25E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 88693574 G A - - - - - - 28 0 0 22 3 13.6 15 4 26.7 53 18 34 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1 1 1 1.575221239 1.575221239 1 1.070866142 1.070866142 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000179267 1 0.000000816 1 2.09E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 13167387 A G - - - - - - 34 0 0 25 6 24 37 7 18.9 48 30 62.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.524705882 1.524705882 1 0.926044248 0.926044248 1 1.343503937 1.343503937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.55E-09 1 7.05E-10 1 6.24E-57 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 22492684 G A - - - - - - 30 0 0 27 6 22.2 36 7 19.4 53 27 50.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.410352941 1.410352941 1 0.950542773 0.950542773 1 1.094149606 1.094149606 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.23E-09 1 5.74E-10 1 6.4E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 27327281 C A - - - - - - 33 0 0 36 7 19.4 32 7 21.9 45 30 66.7 1 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.232470588 1.232470588 1 1.073035398 1.073035398 1 1.433787402 1.433787402 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.74E-10 1 2.36E-10 1 2.99E-58 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 27630404 T A - - - - - - 23 0 0 25 3 12 29 6 20.7 53 28 52.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.762352941 0.762352941 1 1.014238938 1.014238938 1 1.134992126 1.134992126 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00026475 1 6.72E-09 1 2.98E-50 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 27866722 C A - - - - - - 33 0 0 34 6 17.6 42 6 14.3 46 22 47.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.118117647 1.118117647 1 0.700657817 0.700657817 1 1.027511811 1.027511811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.86E-08 1 7.02E-08 1 1.68E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 29608882 G C RNF125 CCDS11902.1 r.? - - intronic 22 0 0 45 7 15.6 21 1 4.8 44 25 56.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.991058824 0.991058824 1 0.235185841 0.235185841 1 1.220976378 1.220976378 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000003 1 0.099912572 1 3.83E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 30407430 T C - - - - - - 32 0 0 35 9 25.7 33 8 24.2 49 22 44.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.632705882 1.632705882 1 1.185728614 1.185728614 1 0.965173228 0.965173228 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.23E-13 1 4.85E-12 1 1.04E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 31629934 A C NOL4 CCDS11907.2 r.? - - intronic 53 0 0 36 8 22.2 28 3 10.7 50 23 46 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.410352941 1.410352941 1 0.524268437 0.524268437 1 0.988818898 0.988818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.04E-11 1 0.000372895 1 1.13E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 32014161 T A - - - - - - 37 0 0 31 6 19.4 29 5 17.2 47 27 57.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.232470588 1.232470588 1 0.842749263 0.842749263 1 1.233874016 1.233874016 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.03E-08 1 0.000000336 1 6.6E-50 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 32423436 G A DTNA CCDS45848.1 r.? - - intronic 23 0 0 28 7 25 31 4 12.9 39 18 46.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.588235294 1.588235294 1 0.632061947 0.632061947 1 0.99311811 0.99311811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.44E-11 1 0.0000177 1 2.15E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 34331800 A G FHOD3 CCDS32816.1 r.? - - intronic 31 0 0 31 6 19.4 36 6 16.7 60 29 48.3 3 0 0 6 1 16.7 2 0 0 1 0 0 NA TRUE FALSE 1.232470588 1.232470588 1 0.818250737 0.818250737 1 1.038259843 1.038259843 1 1.060941176 1.060941176 1 0 0 1 NA NA 1 9 NA 1 1 1.03E-08 0.029627491 2.68E-08 1 1.83E-50 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 34568965 C A KIAA1328 CCDS45855.1 r.? - - intronic 48 0 0 30 5 16.7 36 7 19.4 54 32 59.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 0.950542773 0.950542773 1 1.274716535 1.274716535 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 5.74E-10 1 1.63E-59 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 35676599 T A - - - - - - 31 0 0 26 6 23.1 32 8 25 46 21 45.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.467529412 1.467529412 1 1.224926254 1.224926254 1 0.982370079 0.982370079 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.3E-09 1 3.69E-12 1 2.94E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 39124595 T C - - - - - - 25 0 0 27 4 14.8 35 6 17.1 49 21 42.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.940235294 0.940235294 1 0.837849558 0.837849558 1 0.922181102 0.922181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00001 1 2.24E-08 1 1.63E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 42511828 A T SETBP1 CCDS11923.2 r.? - - intronic 27 0 0 28 5 17.9 32 3 9.4 61 29 47.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.137176471 1.137176471 1 0.460572271 0.460572271 1 1.021062992 1.021062992 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000279 1 0.000556213 1 3.48E-50 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 105456469 G A DPYS CCDS6302.1 r.922+7c>u c.793+7C>T p.? splice region 36 0 0 50 15 30 32 10 31.2 101 42 41.6 225 1 0.4 275 57 20.7 336 68 20.2 1.20E-65 470 155 33 TRUE TRUE 2.805882353 0.935294118 3 2.464707965 0.821569322 3 2.14223622 1.07111811 2 1.936058824 0.968029412 2 1.595740413 0.797870206 2 1.699370079 0.849685039 2 9 11 1 0.676262381 5.83E-23 1.25E-72 5.7E-16 1.54E-85 8.24E-69 4.66E-230 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 18 45264011 T C - - - - - - 28 0 0 38 7 18.4 13 3 23.1 60 32 53.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.168941176 1.168941176 1 1.131831858 1.131831858 1 1.145740157 1.145740157 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.61E-10 1 0.0000344 1 2.11E-57 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 47321264 G A ACAA2 CCDS11939.1 r.? - - intronic 40 0 0 31 7 22.6 32 7 21.9 54 21 38.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.435764706 1.435764706 1 1.073035398 1.073035398 1 0.83619685 0.83619685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.85E-10 1 2.36E-10 1 2.12E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 47946782 G A - - - - - - 30 0 0 35 7 20 6 2 33.3 45 24 53.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.270588235 1.270588235 1 1.63160177 1.63160177 1 1.145740157 1.145740157 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.65E-10 1 0.000370028 1 2.03E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 49332011 T C - - - - - - 33 0 0 29 5 17.2 25 4 16 35 16 45.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.092705882 1.092705882 1 0.783952802 0.783952802 1 0.982370079 0.982370079 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000336 1 0.00000727 1 5.66E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 54679053 G A WDR7 CCDS11962.1 r.? - - intronic 37 0 0 29 5 17.2 28 4 14.3 48 27 56.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.092705882 1.092705882 1 0.700657817 0.700657817 1 1.20807874 1.20807874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000336 1 0.0000116 1 1.5E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 54817746 C G - - - - - - 23 0 0 30 5 16.7 23 3 13 48 23 47.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 0.636961652 0.636961652 1 1.029661417 1.029661417 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 0.000205387 1 3.27E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 57107990 C T CCBE1 CCDS32838.1 r.? - - intronic 43 0 0 32 5 15.6 31 5 16.1 45 19 42.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.991058824 0.991058824 1 0.788852507 0.788852507 1 0.907133858 0.907133858 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 0.000000476 1 4.11E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 63188813 G A - - - - - - 39 0 0 34 4 11.8 31 8 25.8 44 19 43.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.749647059 0.749647059 1 1.264123894 1.264123894 1 0.928629921 0.928629921 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 2.78E-12 1 2.39E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 69078100 A G - - - - - - 16 0 0 25 5 20 32 4 12.5 57 28 49.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.270588235 1.270588235 1 0.612463127 0.612463127 1 1.055456693 1.055456693 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000153 1 0.0000201 1 4.87E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 69116627 C T - - - - - - 37 0 0 32 5 15.6 27 6 22.2 60 26 43.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.991058824 0.991058824 1 1.087734513 1.087734513 1 0.930779528 0.930779528 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 4.23E-09 1 8.84E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 69222788 C G - - - - - - 38 0 0 24 5 20.8 31 8 25.8 43 24 55.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.321411765 1.321411765 1 1.264123894 1.264123894 1 1.199480315 1.199480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000123 1 2.78E-12 1 4.35E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 70153199 T A - - - - - - 31 0 0 36 4 11.1 35 2 5.7 46 20 43.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.705176471 0.705176471 1 0.279283186 0.279283186 1 0.93507874 0.93507874 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.0000324 1 0.013332991 1 4.72E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 71802650 G A FBXO15 CCDS12002.1 r.? - - intronic 27 0 0 20 4 20 26 4 15.4 50 23 46 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.270588235 1.270588235 1 0.754554572 0.754554572 1 0.988818898 0.988818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000284 1 0.00000856 1 1.13E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 76516120 G C - - - - - - 25 0 0 33 7 21.2 21 4 19 44 19 43.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.346823529 1.346823529 1 0.930943953 0.930943953 1 0.928629921 0.928629921 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.98E-10 1 0.00000349 1 2.39E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 1496598 G C REEP6 CCDS12070.1 r.? - - intronic 27 0 0 23 6 26.1 0 0 NA 34 21 61.8 142 0 0 10 2 20 13 2 15.4 0.007248944 13 9 69.2 FALSE TRUE 2.180117647 1.090058824 2 NA NA 0 1.328456693 1.328456693 1 1.670588235 1.670588235 1 0.91024279 0.91024279 1 1.487527559 1.487527559 1 NA 12 1 1 1.47E-09 0.001095391 1 0.001879825 4.16E-40 1.37E-18 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 2690929 C T GNG7 CCDS12091.1 r.? - - intronic 31 0 0 19 6 31.6 18 3 16.7 36 20 55.6 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.639529412 1.319764706 2 0.818250737 0.818250737 1 1.195181102 1.195181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.01E-10 1 0.0000964 1 6.46E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 3919562 C G ATCAY CCDS45923.1 r.? - - intronic 40 0 0 25 4 16 18 6 33.3 53 30 56.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.336470588 1.336470588 1 1.63160177 1.63160177 1 1.216677165 1.216677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000727 1 2.75E-10 1 5.19E-55 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 5724540 C A LONP1 CCDS12148.1 r.? - - upstream 35 0 0 19 4 21.1 7 0 0 48 24 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.762470588 1.762470588 1 0 0 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000228 1 1 1 1.71E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 9917653 G T FBXL12 CCDS12218.1 r.? - - downstream 33 0 0 34 4 11.8 38 14 36.8 103 48 46.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.985647059 0.985647059 1 1.803091445 1.803091445 1 1.997650831 0.998825416 2 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.0000257 1 5.28E-23 1 1.7E-81 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 10555181 A C PDE4A CCDS45961.1 r.? - - intronic 31 0 0 42 8 19 21 4 19 69 18 26.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.587058824 1.587058824 1 0.930943953 0.930943953 1 1.118855938 1.118855938 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 3.96E-11 1 0.00000349 1 5.16E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 10846594 G A DNM2 CCDS45969.1 r.? - - intronic 29 0 0 39 8 20.5 26 13 50 91 53 58.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.712352941 1.712352941 1 2.449852507 2.449852507 1 2.494920137 1.167379002 2.13719806 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.09E-11 1 1.2E-23 1 5.57E-97 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 11133313 G T SMARCA4 CCDS45971.1 r.? - - intronic 24 0 0 38 4 10.5 15 2 13.3 88 17 19.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.877058824 0.877058824 1 0.651660767 0.651660767 1 0.827353241 0.827353241 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000403 1 0.002513772 1 3.34E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 11764655 T A - - - - - - 25 0 0 26 5 19.2 41 5 12.2 83 16 19.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.603764706 1.603764706 1 0.597764012 0.597764012 1 0.827353241 0.827353241 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000188 1 0.00000202 1 5.75E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 11612852 C G - - - - - - 25 0 0 63 5 7.9 74 17 23 197 39 19.8 63 0 0 163 17 10.4 237 22 9.3 7.27E-15 235 26 11.1 TRUE TRUE 0.869846258 0.869846258 1 2.145941706 1.072970853 2 1.137421122 1.137421122 1 1.145114061 1.145114061 1 0.867706864 0.867706864 1 0.637645174 1.071771954 0.594944822 9 12 1 1 0.0000173 1.83E-17 1.34E-23 4.87E-21 2.23E-49 1.43E-26 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 19 13736743 G A - - - - - - 33 0 0 34 5 14.7 35 15 42.9 93 48 51.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227882353 1.227882353 1 2.101973451 2.101973451 1 2.211991049 1.034995816 2.13719806 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000771 1 9.02E-26 1 2.22E-84 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 14498984 G A CD97 CCDS32929.1 r.? - - intronic 25 0 0 41 7 17.1 34 13 38.2 105 53 50.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.428352941 1.428352941 1 1.871687316 1.871687316 1 2.164836201 1.012931951 2.13719806 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.51E-09 1 1.03E-21 1 2.7E-92 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 15219849 C G SYDE1 CCDS12324.1 r.? - - intronic 23 0 0 36 6 16.7 2 0 0 66 21 31.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.394941176 1.394941176 1 0 NA 0 1.363203786 1.363203786 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 2.68E-08 1 1 1 3.42E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 15480802 C T AKAP8 CCDS12329.1 r.? - - intronic 14 0 0 34 7 20.6 6 1 16.7 69 39 56.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.720705882 1.720705882 1 0.818250737 0.818250737 1 2.422044463 1.133280302 2.13719806 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.73E-10 1 0.029627491 1 4.97E-71 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 15756507 G A ENSG00000186529 CCDS12332.1 r.? - - intronic 22 0 0 37 5 13.5 22 7 31.8 71 19 26.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.127647059 1.127647059 1 1.558106195 1.558106195 1 1.148863568 1.148863568 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.00000119 1 1.25E-11 1 1.29E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 17070489 T C CPAMD8 CCDS42519.1 r.? - - intronic 24 0 0 21 6 28.6 33 12 36.4 97 46 47.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.388941176 1.194470588 2 1.783492625 1.783492625 1 2.031945266 1.015972633 2 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 7.95E-10 1 7.86E-20 1 1.25E-78 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 17329241 G A USE1 CCDS46011.1 r.? - - intronic 20 0 0 36 7 19.4 15 5 33.3 71 19 26.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.620470588 1.620470588 1 1.63160177 1.63160177 1 1.148863568 1.148863568 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 5.74E-10 1 0.000000009 1 1.29E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 17585257 C G SLC27A1 CCDS32953.1 r.? - - intronic 27 0 0 33 6 18.2 18 2 11.1 75 14 18.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.520235294 1.520235294 1 0.543867257 0.543867257 1 0.801632415 0.801632415 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 1.54E-08 1 0.003626632 1 2.57E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 19444801 C T KIAA0892 CCDS32969.2 r.? - - intronic 39 0 0 43 10 23.3 8 0 0 67 37 55.2 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 FALSE FALSE 1.946235294 0.973117647 2 0 NA 0 2.366316006 1.107204826 2.13719806 NA NA 1 NA NA 0 0 0 1 NA NA 1 1 1.61E-14 1 1 1 6.28E-67 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 20915397 G A - - - - - - 36 0 0 28 6 21.4 37 4 10.8 86 20 23.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.787529412 1.787529412 1 0.529168142 0.529168142 1 0.998825416 0.998825416 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 5.36E-09 1 0.0000362 1 1.27E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 22577171 A C ZNF98 CCDS46031.1 r.? - - intronic 25 0 0 30 7 23.3 37 6 16.2 94 26 27.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.946235294 1.946235294 1 0.793752212 0.793752212 1 1.187444807 1.187444807 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.44E-10 1 3.18E-08 1 1.17E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 22577196 T C ZNF98 CCDS46031.1 r.? - - intronic 41 0 0 32 5 15.6 47 8 17 92 25 27.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.303058824 1.303058824 1 0.832949853 0.832949853 1 1.166010786 1.166010786 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000562 1 1.03E-10 1 4.74E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 22842688 G A ZNF492 CCDS46032.1 r.? - - intronic 19 0 0 37 6 16.2 31 4 12.9 72 20 27.8 0 0 NA 2 0 0 0 0 NA 1 2 0 0 TRUE FALSE 1.353176471 1.353176471 1 0.632061947 0.632061947 1 1.191731612 1.191731612 1 0 0 1 NA NA 0 0 0 1 9 NA 1 1 3.18E-08 1 0.0000177 1 2.32E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 23856915 G A ZNF675 CCDS32981.1 r.? - - intronic 35 0 0 33 4 12.1 20 3 15 104 27 26 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.010705882 1.010705882 1 0.734955752 0.734955752 1 1.114569133 1.114569133 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000228 1 0.0001337 1 3.35E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 29052904 C T AC005307.1 ENST00000511462 r.? - - intronic 29 0 0 31 6 19.4 35 8 22.9 69 27 39.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.426470588 1.426470588 1 1.351032448 1.351032448 1 1.231496063 1.231496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.03E-08 1 8.15E-12 1 6.8E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 30135295 A G - - - - - - 31 0 0 25 5 20 25 6 24 69 23 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 1.415929204 1.415929204 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000153 1 2.55E-09 1 1.15E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 31049143 A T ZNF536 CCDS32984.1 r.? - - downstream 34 0 0 32 3 9.4 16 4 25 58 19 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.691176471 0.691176471 1 1.474926254 1.474926254 1 1.033070866 1.033070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000556213 1 0.00000108 1 1.5E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 31692793 C T - - - - - - 30 0 0 31 4 12.9 19 9 47.4 67 13 19.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.948529412 0.948529412 1 2.796460177 2.796460177 1 0.611023622 0.611023622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000177 1 1.72E-16 1 2.41E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 32267905 G C - - - - - - 20 0 0 23 5 21.7 26 5 19.2 58 14 24.1 1 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.595588235 1.595588235 1 1.132743363 1.132743363 1 0.759055118 0.759055118 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.75E-08 1 0.000000188 1 5.04E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 33365966 C T CCDC123 CCDS32987.1 r.? - - downstream 33 0 0 29 6 20.7 14 3 21.4 59 17 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.522058824 1.522058824 1 1.262536873 1.262536873 1 0.907086614 0.907086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.72E-09 1 0.0000437 1 1.74E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 33987307 G A PEPD CCDS42544.1 r.? - - intronic 25 0 0 36 5 13.9 15 3 20 81 24 29.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.022058824 1.022058824 1 1.179941003 1.179941003 1 0.932283465 0.932283465 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000104 1 0.0000544 1 1.04E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 36008700 C A DMKN CCDS12463.1 r.? - - upstream 26 0 0 34 6 17.6 20 2 10 54 19 35.2 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470117647 1.470117647 1 0.448382447 0.448382447 1 1.207012213 1.207012213 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.86E-08 1 0.004473894 1 2.97E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 37502035 C T - - - - - - 29 0 0 30 4 13.3 33 5 15.2 66 18 27.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.110941176 1.110941176 1 0.68154132 0.68154132 1 0.936120267 0.936120267 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000154 1 0.00000066 1 2.08E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 37814377 C T AC016590.1 ENST00000504080 r.? - - upstream 24 0 0 32 7 21.9 23 8 34.8 95 29 30.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.829294118 1.829294118 1 1.560370917 1.560370917 1 1.04584865 1.04584865 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.36E-10 1 1.79E-13 1 2.9E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 37955931 C A ZNF569 CCDS12503.1 r.? - - intronic 24 0 0 38 5 13.2 53 6 11.3 65 24 36.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.102588235 1.102588235 1 0.506672166 0.867411891 0.58411946 1.265305416 1.265305416 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000137 1 0.000000293 1 1.94E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 38057626 G A ZNF571 CCDS12505.1 r.? - - intronic 29 0 0 37 6 16.2 44 2 4.5 63 17 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.353176471 1.353176471 1 0.201772101 0.345429514 0.58411946 0.925833231 0.925833231 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.18E-08 1 0.020580492 1 6.22E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 38617521 C T SIPA1L3 CCDS33007.1 r.? - - intronic 19 0 0 30 5 16.7 25 0 0 74 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.394941176 1.394941176 1 0 NA 0 0 0 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.000000401 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 39122598 A G EIF3K CCDS12517.1 r.? - - intronic 34 0 0 31 4 12.9 40 9 22.5 84 23 27.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.077529412 1.077529412 1 1.008860507 1.008860507 1 0.939549279 0.939549279 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000177 1 4.64E-13 1 2.25E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 40088595 T C LGALS13 CCDS33024.1 r.? - - upstream 31 0 0 52 10 19.2 53 10 18.9 72 17 23.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.603764706 1.603764706 1 0.847442826 0.847442826 1 0.809246824 0.809246824 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.28E-13 1 1.57E-13 1 7.97E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 40118515 G C - - - - - - 34 0 0 35 5 14.3 43 5 11.6 71 23 32.4 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 1.194470588 1.194470588 1 0.520123639 0.520123639 1 1.110999877 1.110999877 1 NA NA 1 0 NA 0 NA NA 1 9 NA 1 1 0.000000895 1 0.00000257 1 2.51E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 40807118 G C AC118344.4 ENST00000383947 r.? - - upstream 33 0 0 34 8 23.5 16 3 18.8 52 15 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.962941176 0.981470588 2 0.842959001 0.842959001 1 0.987555447 0.987555447 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 6.32E-12 1 0.0000667 1 1.15E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 41291136 C A RAB4B CCDS33030.1 r.? - - intronic 35 0 0 34 4 11.8 28 0 0 61 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.985647059 0.985647059 1 0 NA 0 0 0 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.0000257 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 42168706 G C - - - - - - 25 0 0 27 4 14.8 39 2 5.1 56 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.088235294 1.088235294 1 0.296385012 0.296385012 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.00001 1 0.016387522 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 43286166 G T - - - - - - 36 0 0 32 8 25 39 18 46.2 52 26 50 0 0 NA 0 0 NA 0 0 NA 1 2 2 100 TRUE FALSE 1.838235294 1.838235294 1 2.684899522 1.404408168 1.911765812 1.179071451 1.179071451 1 NA NA 1 NA NA 0 2.358142902 2.358142902 1 9 NA 1 1 3.69E-12 1 2.15E-31 1 6.52E-46 0.000025 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 44414373 C T ZNF45 CCDS12632.1 r.? - - downstream 26 0 0 46 8 17.4 41 17 41.5 41 23 56.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.279411765 1.279411765 1 2.411760393 1.261535476 1.911765812 1.322918168 1.322918168 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 8.61E-11 1 1.03E-28 1 2.21E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 44580045 C T ZNF284 CCDS46099.1 r.? - - intronic 30 0 0 35 9 25.7 50 23 46 48 24 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.889705882 0.944852941 2 2.67327658 1.398328479 1.911765812 1.179071451 1.179071451 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.23E-13 1 1.13E-39 1 1.71E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 44716174 C A ZNF227 CCDS12636.1 r.? - - upstream 32 0 0 25 7 28 15 4 26.7 38 25 65.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.058823529 1.029411765 2 1.551662711 1.551662711 1 1.55165803 1.283914799 1.208536603 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.47E-11 1 0.000000816 1 1.52E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 46074458 A G OPA3 CCDS12668.1 r.? - - intronic 43 0 0 38 11 28.9 23 8 34.8 69 39 56.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.125 1.0625 2 2.022391848 1.057865893 1.911765812 1.33235074 1.102449637 1.208536603 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 5.19E-17 1 1.79E-13 1 4.97E-71 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 48036064 G A ZNF541 CCDS46133.1 r.? - - intronic 24 0 0 30 6 20 21 8 38.1 45 28 62.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 2.214170385 1.158180762 1.911765812 1.466764885 1.21367022 1.208536603 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 8.37E-09 1 7.5E-14 1 3.78E-53 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 50437775 C T NUP62 CCDS12788.1 r.? - - upstream 29 0 0 23 6 26.1 9 2 22.2 41 2 4.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.919117647 1.919117647 1 1.290146523 1.290146523 1 0.115549002 0.554094583 0.208536603 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.47E-09 1 0.000879235 1 0.018015855 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 51098574 G T - - - - - - 24 1 4.2 27 8 29.6 8 1 12.5 48 21 43.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.176470588 1.088235294 2 0.726433853 0.726433853 1 1.032866591 1.032866591 1 NA NA 1 NA NA 0 NA NA 1 9 NA 0.113346489 1 7.97E-13 1 0.039306956 1 9.35E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 51806140 C T - - - - - - 31 0 0 33 11 33.3 30 9 30 57 27 47.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.448529412 1.224264706 2 1.743441248 1.743441248 1 1.117759736 1.117759736 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 8.54E-18 1 2.54E-14 1 9.04E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 51942060 T C SIGLEC10 ENST00000441969 r.? - - intronic 25 0 0 33 10 30.3 11 2 18.2 45 20 44.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.227941176 1.113970588 2 1.05768769 1.05768769 1 1.047015449 1.047015449 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 8.14E-16 1 0.001334363 1 2.68E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 56237341 G A NLRP9 CCDS12934.1 r.? - - intronic 24 0 0 32 10 31.2 21 7 33.3 45 24 53.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.294117647 1.147058824 2 1.935219785 1.012268225 1.911765812 1.256890167 1.256890167 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 5.7E-16 1 8.54E-12 1 2.03E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 57255807 G T - - - - - - 31 0 0 33 6 18.2 36 12 33.3 48 26 54.2 0 0 NA 2 0 0 0 0 NA 1 0 0 NA TRUE FALSE 1.338235294 1.338235294 1 1.935219785 1.012268225 1.911765812 1.278113453 1.278113453 1 0 0 1 NA NA 0 NA NA 1 9 NA 1 1 1.54E-08 1 2.73E-19 1 3.67E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 58013178 A G ZNF773 CCDS33134.1 r.? - - intronic 33 0 0 25 7 28 20 10 50 37 22 59.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.058823529 1.029411765 2 2.905735413 1.51992226 1.911765812 1.403095027 1.160986786 1.208536603 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.47E-11 1 1.72E-18 1 2.08E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 16239 C T - - - - - - 38 0 0 26 6 23.1 39 7 17.9 58 17 29.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.698529412 1.698529412 1 1.056047198 1.056047198 1 0.922834646 0.922834646 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.3E-09 1 1.04E-09 1 1.24E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 928788 G T - - - - - - 26 0 0 24 4 16.7 13 1 7.7 60 19 31.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 0.454277286 0.454277286 1 0.998425197 0.998425197 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000613 1 0.063085307 1 3.21E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 1429755 A G TPO CCDS1643.1 r.? - - intronic 29 0 0 32 5 15.6 41 5 12.2 78 26 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.147058824 1.147058824 1 0.719764012 0.719764012 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 0.00000202 1 4.04E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 1994650 C A MYT1L CCDS46222.1 r.? - - intronic 26 0 0 27 4 14.8 16 5 31.2 62 21 33.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.088235294 1.088235294 1 1.840707965 1.840707965 1 1.067716535 1.067716535 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00001 1 0.000000013 1 7.22E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 2389714 G A - - - - - - 33 0 0 42 9 21.4 32 9 28.1 56 24 42.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.573529412 1.573529412 1 1.657817109 1.657817109 1 1.351181102 1.351181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.51E-13 1 4.94E-14 1 2.23E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 4740569 C G - - - - - - 31 0 0 49 6 12.2 29 4 13.8 66 22 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.897058824 0.897058824 1 0.814159292 0.814159292 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 0.000000182 1 0.0000134 1 3.52E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 4789599 A T - - - - - - 25 0 0 31 4 12.9 29 2 6.9 49 21 42.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.948529412 0.948529412 1 0.407079646 0.407079646 1 0.922181102 0.922181102 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000177 1 0.009279585 1 1.63E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 5772103 A T - - - - - - 22 0 0 40 5 12.5 42 7 16.7 87 19 21.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 0.985250737 0.985250737 1 0.686614173 0.686614173 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000178 1 1.81E-09 1 9.64E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 5873692 G A - - - - - - 32 0 0 33 4 12.1 39 7 17.9 70 29 41.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 1.056047198 1.056047198 1 1.303937008 1.303937008 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 1.04E-09 1 6.18E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 5911852 C T - - - - - - 31 0 0 42 5 11.9 35 7 20 61 19 31.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.875 0.875 1 1.179941003 1.179941003 1 0.979527559 0.979527559 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000228 1 4.65E-10 1 4.64E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 6384952 A G - - - - - - 34 0 0 27 5 18.5 29 3 10.3 64 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.360294118 1.360294118 1 0.607669617 0.607669617 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.00000023 1 0.000414371 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 6455702 T A - - - - - - 38 0 0 36 6 16.7 40 9 22.5 66 17 25.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 1.327433628 1.327433628 1 0.812598425 0.812598425 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.68E-08 1 4.64E-13 1 1.52E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 6506991 A G - - - - - - 28 0 0 39 4 10.3 39 0 0 64 0 0 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 0 0 1 0 0 1 NA NA 1 0 0 1 NA NA 1 8 NA 1 1 0.0000447 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 6624759 G A - - - - - - 26 0 0 31 7 22.6 29 3 10.3 56 11 19.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.661764706 1.661764706 1 0.607669617 0.607669617 1 0.617322835 0.617322835 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.85E-10 1 0.000414371 1 5.91E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 12585713 G A - - - - - - 32 0 0 24 5 20.8 34 3 8.8 72 21 29.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.529411765 1.529411765 1 0.519174041 0.519174041 1 0.919685039 0.919685039 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000123 1 0.000666058 1 2.89E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 13809613 T G - - - - - - 39 0 0 37 5 13.5 37 5 13.5 71 26 36.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.992647059 0.992647059 1 0.796460177 0.796460177 1 1.152755906 1.152755906 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000119 1 0.00000119 1 2.11E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 16369146 G T - - - - - - 32 0 0 35 7 20 34 5 14.7 57 19 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 0.867256637 0.867256637 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.65E-10 1 0.000000771 1 1.01E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 16430474 G A - - - - - - 27 0 0 32 4 12.5 27 5 18.5 64 0 0 171 0 0 54 7 13 90 13 14.4 8.02E-12 66 0 0 TRUE TRUE 0.919117647 0.919117647 1 1.091445428 1.091445428 1 0 0 1 0.955882353 0.955882353 1 0.849557522 0.849557522 1 0 0 1 7 7 1 1 0.0000201 1.13E-08 0.00000023 1.4E-15 1 1 YES 1_1 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 2 18249171 G A - - - - - - 25 0 0 38 8 21.1 27 8 29.6 69 25 36.2 0 0 NA 0 0 NA 2 0 0 1 0 0 NA TRUE FALSE 1.551470588 1.551470588 1 1.746312684 1.746312684 1 1.14015748 1.14015748 1 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 1.67E-11 1 7.97E-13 1 1E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 19395103 A G - - - - - - 29 0 0 42 6 14.3 39 8 20.5 62 12 19.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 1.209439528 1.209439528 1 0.611023622 0.611023622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.02E-08 1 2.09E-11 1 4.19E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 19528389 A T - - - - - - 41 0 0 30 6 20 42 10 23.8 72 16 22.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 1.404129794 1.404129794 1 0.699212598 0.699212598 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.37E-09 1 1.24E-14 1 4.82E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 19551287 A C OSR1 CCDS1694.1 r.1895u>g c.? p.? 3'UTR variant 27 0 0 19 4 21.1 14 1 7.1 61 20 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.551470588 1.551470588 1 0.418879056 0.418879056 1 1.033070866 1.033070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000228 1 0.067769881 1 4.89E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 22351871 C G - - - - - - 23 0 0 34 4 11.8 31 5 16.1 68 15 22.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.867647059 0.867647059 1 0.949852507 0.949852507 1 0.696062992 0.696062992 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 0.000000476 1 1.06E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 27410418 A G - - - - - - 32 0 0 39 12 30.8 45 13 28.9 94 51 54.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.264705882 2.264705882 1 1.705014749 1.705014749 1 1.71023622 1.71023622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.43E-19 1 7.68E-20 1 4.17E-91 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 30268716 G T - - - - - - 27 0 0 42 6 14.3 42 4 9.5 58 15 25.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 0.560471976 0.560471976 1 0.815748031 0.815748031 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.02E-08 1 0.0000601 1 7.42E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 31649944 C T - - - - - - 24 0 0 32 5 15.6 35 4 11.4 66 24 36.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.147058824 1.147058824 1 0.672566372 0.672566372 1 1.146456693 1.146456693 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 0.0000289 1 3.04E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 32742138 C G BIRC6 CCDS33175.2 r.? - - intronic 36 0 0 39 7 17.9 24 6 25 69 21 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.316176471 1.316176471 1 1.474926254 1.474926254 1 0.957480315 0.957480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.04E-09 1 1.95E-09 1 1.02E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 33152250 G A - - - - - - 33 0 0 37 4 10.8 28 5 17.9 72 16 22.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 1.056047198 1.056047198 1 0.699212598 0.699212598 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000362 1 0.000000279 1 4.82E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 34851187 C A - - - - - - 43 0 0 39 4 10.3 42 0 0 67 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 0 0 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.0000447 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 35964796 C A - - - - - - 21 0 0 36 5 13.9 44 6 13.6 59 18 30.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.022058824 1.022058824 1 0.802359882 0.802359882 1 0.960629921 0.960629921 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000104 1 9.37E-08 1 2.03E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 36388301 G C - - - - - - 23 0 0 26 3 11.5 37 8 21.6 69 22 31.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.845588235 0.845588235 1 1.274336283 1.274336283 1 1.004724409 1.004724409 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000298167 1 1.33E-11 1 1.12E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 38386579 C T - - - - - - 30 0 0 33 5 15.2 37 2 5.4 79 25 31.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.117647059 1.117647059 1 0.318584071 0.318584071 1 0.995275591 0.995275591 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 0.014826063 1 5.74E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 39233890 C T SOS1 CCDS1802.1 r.? - - intronic 33 0 0 33 6 18.2 38 6 15.8 75 34 45.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.338235294 1.338235294 1 0.932153392 0.932153392 1 1.426771654 1.426771654 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.54E-08 1 3.76E-08 1 1.2E-57 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 40459752 T A SLC8A1 CCDS1806.1 r.? - - intronic 32 0 0 27 4 14.8 33 7 21.2 58 19 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.088235294 1.088235294 1 1.250737463 1.250737463 1 1.033070866 1.033070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00001 1 2.98E-10 1 1.5E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 40536885 C T SLC8A1 CCDS1806.1 r.? - - intronic 20 0 0 35 8 22.9 32 4 12.5 67 17 25.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.683823529 1.683823529 1 0.737463127 0.737463127 1 0.8 0.8 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.15E-12 1 0.0000201 1 2.03E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 41850083 A C - - - - - - 42 0 0 40 8 20 44 15 34.1 73 27 37 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 2.01179941 2.01179941 1 1.165354331 1.165354331 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.61E-11 1 6.12E-24 1 4.45E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 42193875 G C - - - - - - 26 0 0 29 7 24.1 2 1 50 55 22 40 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.772058824 1.772058824 1 2.949852507 2.949852507 1 1.25984252 1.25984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.11E-10 1 0.009975 1 2.65E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 43900019 C T PLEKHH2 CCDS1812.1 r.? - - intronic 31 0 0 32 4 12.5 39 5 12.8 73 21 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 0.755162242 0.755162242 1 0.907086614 0.907086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 0.00000156 1 4.03E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 44476893 G A - - - - - - 25 0 0 24 4 16.7 14 2 14.3 55 23 41.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 0.843657817 0.843657817 1 1.316535433 1.316535433 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000613 1 0.002185852 1 1.91E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 46153023 G C PRKCE CCDS1824.1 r.? - - intronic 32 0 0 33 5 15.2 23 6 26.1 51 17 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.117647059 1.117647059 1 1.539823009 1.539823009 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 1.47E-09 1 9.59E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 46265589 A G PRKCE CCDS1824.1 r.? - - intronic 29 0 0 31 5 16.1 40 7 17.5 58 17 29.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.183823529 1.183823529 1 1.032448378 1.032448378 1 0.922834646 0.922834646 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000476 1 1.26E-09 1 1.24E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 46984939 A T SOCS5 CCDS1830.1 r.? - - intronic 42 0 0 28 4 14.3 30 0 0 80 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 0 0 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.0000116 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 48460803 G A - - - - - - 23 0 0 32 8 25 24 2 8.3 64 19 29.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.838235294 1.838235294 1 0.489675516 0.489675516 1 0.935433071 0.935433071 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.69E-12 1 0.006413403 1 1.34E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 50536648 A G NRXN1 CCDS46282.1 r.? - - intronic 24 0 0 49 8 16.3 51 6 11.8 64 22 34.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.198529412 1.198529412 1 0.696165192 0.696165192 1 1.083464567 1.083464567 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.47E-10 1 0.000000232 1 1.57E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 51829056 G A - - - - - - 34 0 0 37 4 10.8 41 4 9.8 58 18 31 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 0.578171091 0.578171091 1 0.976377953 0.976377953 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000362 1 0.0000546 1 1.42E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 52374558 C T - - - - - - 34 0 0 31 6 19.4 38 4 10.5 59 15 25.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.426470588 1.426470588 1 0.619469027 0.619469027 1 0.8 0.8 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.03E-08 1 0.0000403 1 9.9E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 52497183 A T - - - - - - 38 0 0 39 4 10.3 48 4 8.3 62 19 30.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 0.489675516 0.489675516 1 0.963779528 0.963779528 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000447 1 0.000102016 1 6.66E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 52984039 G A - - - - - - 34 0 0 37 4 10.8 25 2 8 65 16 24.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 0.471976401 0.471976401 1 0.77480315 0.77480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000362 1 0.006948068 1 7.85E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 53672352 G T - - - - - - 29 0 0 28 4 14.3 30 5 16.7 59 17 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 0.985250737 0.985250737 1 0.907086614 0.907086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000116 1 0.000000401 1 1.74E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 55426266 C G C2orf63 CCDS33201.1 r.? - - intronic 33 0 0 36 5 13.9 34 4 11.8 57 14 24.6 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 TRUE FALSE 1.022058824 1.022058824 1 0.696165192 0.696165192 1 0.77480315 0.77480315 1 NA NA 1 NA NA 1 0 0 1 9 NA 1 1 0.00000104 1 0.0000257 1 3.84E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 55543423 T A CCDC88A CCDS33203.1 r.? - - intronic 31 0 0 42 4 9.5 39 8 20.5 67 29 43.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.698529412 0.698529412 1 1.209439528 1.209439528 1 1.363779528 1.363779528 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000601 1 2.09E-11 1 1.22E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 56620743 A T - - - - - - 38 0 0 44 8 18.2 46 6 13 66 21 31.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.338235294 1.338235294 1 0.766961652 0.766961652 1 1.001574803 1.001574803 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.9E-11 1 0.000000123 1 3.42E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 58256221 C A - - - - - - 18 0 0 20 4 20 21 8 38.1 39 14 35.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 2.247787611 2.247787611 1 1.130708661 1.130708661 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000284 1 7.5E-14 1 8.19E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 58705813 A G - - - - - - 36 0 0 36 10 27.8 38 7 18.4 73 25 34.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.044117647 2.044117647 1 1.085545723 1.085545723 1 1.077165354 1.077165354 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.21E-15 1 8.61E-10 1 5.49E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 58951509 T C - - - - - - 38 0 0 42 10 23.8 43 11 25.6 58 25 43.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.75 1.75 1 1.510324484 1.510324484 1 1.357480315 1.357480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.24E-14 1 2.42E-16 1 4.44E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 59239075 T A - - - - - - 30 0 0 32 4 12.5 35 8 22.9 51 10 19.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 1.351032448 1.351032448 1 0.617322835 0.617322835 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 8.15E-12 1 1.04E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 59932317 A C - - - - - - 35 0 0 37 5 13.5 38 6 15.8 74 20 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.992647059 0.992647059 1 0.932153392 0.932153392 1 0.850393701 0.850393701 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000119 1 3.76E-08 1 4.34E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 59932328 A T - - - - - - 31 0 0 37 4 10.8 38 6 15.8 76 21 27.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 0.932153392 0.932153392 1 0.869291339 0.869291339 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000362 1 3.76E-08 1 1.07E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 61228913 T A PUS10 CCDS1865.1 r.? - - intronic 35 0 0 37 3 8.1 45 1 2.2 68 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.595588235 0.595588235 1 0.12979351 0.12979351 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.000855237 1 0.201934322 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 64741360 A G - - - - - - 32 0 0 39 5 12.8 53 14 26.4 66 22 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.941176471 0.941176471 1 1.557522124 1.557522124 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000156 1 1.22E-20 1 3.52E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 65592171 C T SPRED2 CCDS33211.1 r.? - - intronic 30 0 0 32 6 18.8 40 7 17.5 70 22 31.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.382352941 1.382352941 1 1.032448378 1.032448378 1 0.988976378 0.988976378 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.27E-08 1 1.26E-09 1 1.63E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 68120112 A C - - - - - - 37 0 0 38 7 18.4 34 0 0 64 22 34.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.352941176 1.352941176 1 0 0 1 1.083464567 1.083464567 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.61E-10 1 1 1 1.57E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 70233143 C G - - - - - - 43 0 0 29 6 20.7 32 6 18.8 71 25 35.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.522058824 1.522058824 1 1.109144543 1.109144543 1 1.108661417 1.108661417 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.72E-09 1 1.27E-08 1 2.38E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 72947011 C G EXOC6B CCDS46333.1 r.? - - intronic 45 0 0 45 5 11.1 39 5 12.8 60 18 30 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.755162242 0.755162242 1 0.94488189 0.94488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000323 1 0.00000156 1 2.89E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 73566560 C G - - - - - - 31 0 0 36 3 8.3 40 6 15 60 21 35 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.610294118 0.610294118 1 0.884955752 0.884955752 1 1.102362205 1.102362205 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000788827 1 5.18E-08 1 3.16E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 76228512 C T - - - - - - 34 0 0 32 4 12.5 40 8 20 62 14 22.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 1.179941003 1.179941003 1 0.711811024 0.711811024 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 2.61E-11 1 1.42E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 77281563 C T LRRTM4 CCDS46346.1 r.? - - intronic 29 0 0 42 11 26.2 36 3 8.3 73 19 26 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.926470588 1.926470588 1 0.489675516 0.489675516 1 0.818897638 0.818897638 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.81E-16 1 0.000788827 1 2.35E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 77844833 G C - - - - - - 33 0 0 41 5 12.2 40 8 20 46 18 39.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.897058824 0.897058824 1 1.179941003 1.179941003 1 1.231496063 1.231496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000202 1 2.61E-11 1 9.41E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 78489384 C T - - - - - - 36 0 0 33 5 15.2 15 1 6.7 75 26 34.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.117647059 1.117647059 1 0.395280236 0.395280236 1 1.092913386 1.092913386 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 0.072431031 1 1.19E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 80469415 T C CTNNA2 CCDS42703.2 r.? - - intronic 34 0 0 39 9 23.1 30 3 10 67 22 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.698529412 1.698529412 1 0.589970501 0.589970501 1 1.033070866 1.033070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.62E-13 1 0.000458697 1 5.21E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 82058911 C A - - - - - - 42 0 0 39 5 12.8 40 4 10 59 16 27.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.941176471 0.941176471 1 0.589970501 0.589970501 1 0.853543307 0.853543307 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000156 1 0.0000495 1 1.37E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 82420523 C T - - - - - - 32 0 0 41 11 26.8 35 3 8.6 64 19 29.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.970588235 1.970588235 1 0.507374631 0.507374631 1 0.935433071 0.935433071 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.34E-16 1 0.000725791 1 1.34E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 82644090 C T - - - - - - 32 0 0 27 4 14.8 38 9 23.7 68 19 27.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.088235294 1.088235294 1 1.398230088 1.398230088 1 0.878740157 0.878740157 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00001 1 2.79E-13 1 5.06E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 82886738 G A - - - - - - 36 0 0 39 6 15.4 35 7 20 68 22 32.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.132352941 1.132352941 1 1.179941003 1.179941003 1 1.020472441 1.020472441 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.43E-08 1 4.65E-10 1 7.67E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 86159542 T C - - - - - - 36 0 0 48 5 10.4 33 4 12.1 47 11 23.4 0 0 NA 0 0 NA 0 0 NA 1 2 2 100 TRUE FALSE 0.764705882 0.764705882 1 0.713864307 0.713864307 1 0.737007874 0.737007874 1 NA NA 1 NA NA 1 3.149606299 3.149606299 1 9 NA 1 1 0.00000447 1 0.0000228 1 7.21E-16 0.000025 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 86169629 T C - - - - - - 34 0 0 29 4 13.8 26 4 15.4 63 17 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.014705882 1.014705882 1 0.908554572 0.908554572 1 0.850393701 0.850393701 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000134 1 0.00000856 1 6.22E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 88635479 G A - - - - - - 30 0 0 38 8 21.1 22 5 22.7 61 27 44.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.551470588 1.551470588 1 1.339233038 1.339233038 1 1.395275591 1.395275591 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.67E-11 1 7.67E-08 1 9.98E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 89295736 T C - - - - - - 28 0 0 26 4 15.4 28 2 7.1 54 17 31.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.132352941 1.132352941 1 0.418879056 0.418879056 1 0.992125984 0.992125984 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000856 1 0.008668191 1 3.02E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 89546443 C T - - - - - - 33 0 0 36 6 16.7 38 6 15.8 60 21 35 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 0.932153392 0.932153392 1 1.102362205 1.102362205 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.68E-08 1 3.76E-08 1 3.16E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 91927718 A T - - - - - - 56 0 0 56 6 10.7 41 5 12.2 95 19 20 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.786764706 0.786764706 1 0.719764012 0.719764012 1 0.62992126 0.62992126 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000409 1 0.00000202 1 5.98E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 95715250 G T MAL CCDS2006.1 r.? - - intronic 34 0 0 18 8 44.4 5 2 40 46 15 32.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.264705882 3.264705882 1 2.359882006 2.359882006 1 1.026771654 1.026771654 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.63E-14 1 0.000247509 1 1.35E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 97617907 C A FAM178B CCDS46366.1 r.? - - intronic 30 0 0 40 5 12.5 9 1 11.1 65 18 27.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 0.654867257 0.654867257 1 0.872440945 0.872440945 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000178 1 0.044110422 1 1.52E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 100491192 G A AFF3 CCDS42723.1 r.? - - intronic 36 0 0 33 4 12.1 36 8 22.2 50 20 40 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 1.309734513 1.309734513 1 1.25984252 1.25984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 1.04E-11 1 3.9E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 101399211 G A - - - - - - 25 0 0 42 9 21.4 15 5 33.3 85 22 25.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.573529412 1.573529412 1 1.96460177 1.96460177 1 0.815748031 0.815748031 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.51E-13 1 0.000000009 1 2.23E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 101556390 G A NPAS2 CCDS2048.1 r.? - - intronic 32 0 0 36 4 11.1 27 3 11.1 74 27 36.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.654867257 0.654867257 1 1.149606299 1.149606299 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000324 1 0.000334187 1 6.97E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 105536629 C T - - - - - - 27 0 0 27 5 18.5 24 6 25 56 20 35.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.360294118 1.360294118 1 1.474926254 1.474926254 1 1.124409449 1.124409449 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000023 1 1.95E-09 1 6.31E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 107541845 G C - - - - - - 28 0 0 30 5 16.7 35 6 17.1 56 20 35.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 1.008849558 1.008849558 1 1.124409449 1.124409449 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 2.24E-08 1 6.31E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 107580108 C T - - - - - - 33 0 0 23 5 21.7 32 4 12.5 58 20 34.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.595588235 1.595588235 1 0.737463127 0.737463127 1 1.086614173 1.086614173 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.75E-08 1 0.0000201 1 1.47E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 111454898 C T - - - - - - 17 0 0 29 8 27.6 15 3 20 49 13 26.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.029411765 2.029411765 1 1.179941003 1.179941003 1 0.834645669 0.834645669 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.53E-12 1 0.0000544 1 2.71E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 112746482 C T MERTK CCDS2094.1 r.? - - intronic 36 0 0 29 6 20.7 22 5 22.7 72 22 30.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.522058824 1.522058824 1 1.339233038 1.339233038 1 0.963779528 0.963779528 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.72E-09 1 7.67E-08 1 3.36E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 114220139 G A CBWD2 CCDS2116.1 r.? - - intronic 17 0 0 31 5 16.1 33 4 12.1 47 18 38.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.183823529 1.183823529 1 0.713864307 0.713864307 1 1.206299213 1.206299213 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000476 1 0.0000228 1 1.52E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 115342286 C A DPP10 CCDS46400.1 r.? - - intronic 32 0 0 23 5 21.7 39 6 15.4 45 18 40 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.595588235 1.595588235 1 0.908554572 0.908554572 1 1.25984252 1.25984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.75E-08 1 4.43E-08 1 5.76E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 116308331 T C DPP10 CCDS46400.1 r.? - - intronic 31 0 0 35 4 11.4 37 0 0 60 27 45 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838235294 0.838235294 1 0 0 1 1.417322835 1.417322835 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.0000289 1 1 1 5.59E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 116435221 G A DPP10 CCDS46400.1 r.? - - intronic 34 0 0 30 5 16.7 40 10 25 62 22 35.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 1.474926254 1.474926254 1 1.118110236 1.118110236 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 7.22E-15 1 6.75E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 116563680 C T DPP10 CCDS46400.1 r.? - - intronic 31 0 0 26 4 15.4 31 3 9.7 53 17 32.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.132352941 1.132352941 1 0.572271386 0.572271386 1 1.011023622 1.011023622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000856 1 0.000505952 1 2.08E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 117255482 C A - - - - - - 30 0 0 29 5 17.2 42 5 11.9 68 16 23.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.264705882 1.264705882 1 0.702064897 0.702064897 1 0.74015748 0.74015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000336 1 0.00000228 1 1.75E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 117905115 C T - - - - - - 23 0 0 35 5 14.3 27 7 25.9 55 12 21.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 1.528023599 1.528023599 1 0.686614173 0.686614173 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000895 1 6.36E-11 1 8.78E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 119354146 T C AC018686.1 ENST00000505137 r.? - - downstream 28 0 0 33 5 15.2 27 6 22.2 67 19 28.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.117647059 1.117647059 1 1.309734513 1.309734513 1 0.894488189 0.894488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 4.23E-09 1 3.67E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 121739413 C T GLI2 CCDS33283.1 r.? - - intronic 27 0 0 42 8 19 24 4 16.7 68 22 32.4 0 0 NA 1 0 0 0 0 NA 1 0 0 NA TRUE FALSE 1.397058824 1.397058824 1 0.985250737 0.985250737 1 1.020472441 1.020472441 1 0 0 1 NA NA 1 NA NA 1 9 NA 1 1 3.96E-11 1 0.00000613 1 7.67E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 122911102 A T - - - - - - 28 0 0 33 4 12.1 40 4 10 65 21 32.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 0.589970501 0.589970501 1 1.017322835 1.017322835 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 0.0000495 1 2.35E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 125124594 G T CNTNAP5 CCDS46401.1 r.? - - intronic 32 0 0 38 7 18.4 37 5 13.5 68 16 23.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.352941176 1.352941176 1 0.796460177 0.796460177 1 0.74015748 0.74015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.61E-10 1 0.00000119 1 1.75E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 125182016 C G CNTNAP5 CCDS46401.1 r.? - - intronic 31 0 0 34 6 17.6 38 8 21.1 79 15 19 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.294117647 1.294117647 1 1.244837758 1.244837758 1 0.598425197 0.598425197 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.86E-08 1 1.67E-11 1 1.22E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 125579360 C A CNTNAP5 CCDS46401.1 r.? - - intronic 27 0 0 26 4 15.4 38 5 13.2 54 19 35.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.132352941 1.132352941 1 0.778761062 0.778761062 1 1.108661417 1.108661417 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000856 1 0.00000137 1 2.97E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 125881299 C A - - - - - - 36 0 0 33 6 18.2 39 5 12.8 72 22 30.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.338235294 1.338235294 1 0.755162242 0.755162242 1 0.963779528 0.963779528 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.54E-08 1 0.00000156 1 3.36E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 126253559 C T - - - - - - 33 0 0 37 7 18.9 51 5 9.8 48 20 41.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.389705882 1.389705882 1 0.578171091 0.578171091 1 1.313385827 1.313385827 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.05E-10 1 0.00000606 1 1.4E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 126266565 C G - - - - - - 36 0 0 44 10 22.7 35 6 17.1 69 19 27.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.669117647 1.669117647 1 1.008849558 1.008849558 1 0.866141732 0.866141732 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.08E-14 1 2.24E-08 1 6.95E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 126618405 T C - - - - - - 28 0 0 28 4 14.3 25 5 20 56 21 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 1.179941003 1.179941003 1 1.181102362 1.181102362 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000116 1 0.000000153 1 5.43E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 127790977 G C - - - - - - 25 0 0 47 8 17 43 11 25.6 57 15 26.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.25 1.25 1 1.510324484 1.510324484 1 0.828346457 0.828346457 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.03E-10 1 2.42E-16 1 5.53E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 127912054 G A - - - - - - 24 0 0 29 4 13.8 13 0 0 54 10 18.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.014705882 1.014705882 1 0 0 1 0.582677165 0.582677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000134 1 1 1 1.91E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 128077007 G T MAP3K2 CCDS46404.1 r.? - - intronic 31 0 0 35 7 20 25 4 16 59 22 37.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 0.943952802 0.943952802 1 1.17480315 1.17480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.65E-10 1 0.00000727 1 1.79E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 11612866 C A - - - - - - 32 0 0 62 8 12.9 76 15 19.7 208 42 20.2 76 0 0 198 23 11.6 282 31 11 1.74E-22 296 37 12.5 TRUE TRUE 1.420381864 1.420381864 1 1.838045722 0.919022861 2 1.160399327 1.160399327 1 1.277242606 1.277242606 1 1.026319946 1.026319946 1 0.71806889 1.206950398 0.594944822 9 12 1 1 1.04E-09 3.51E-24 6.51E-20 2.74E-31 1.92E-53 3.91E-39 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 2 130265601 C A - - - - - - 34 0 0 34 7 20.6 36 7 19.4 73 22 30.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.514705882 1.514705882 1 1.144542773 1.144542773 1 0.948031496 0.948031496 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.73E-10 1 5.74E-10 1 4.79E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 132388812 G T - - - - - - 16 0 0 32 4 12.5 35 0 0 60 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 0 0 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.0000201 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 134065267 G T NCKAP5 CCDS46418.1 r.? - - intronic 29 0 0 34 6 17.6 35 3 8.6 69 23 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.294117647 1.294117647 1 0.507374631 0.507374631 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.86E-08 1 0.000725791 1 1.15E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 137285775 C T - - - - - - 35 0 0 43 5 11.6 31 6 19.4 52 17 32.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.852941176 0.852941176 1 1.144542773 1.144542773 1 1.02992126 1.02992126 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000257 1 1.03E-08 1 1.42E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 137770719 G T THSD7B ENST00000409968 r.? - - intronic 23 0 0 37 4 10.8 56 15 26.8 68 22 32.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 1.581120944 1.581120944 1 1.020472441 1.020472441 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000362 1 4.09E-22 1 7.67E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 138331742 G A THSD7B ENST00000409968 r.? - - intronic 22 0 0 29 4 13.8 28 2 7.1 70 15 21.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.014705882 1.014705882 1 0.418879056 0.418879056 1 0.674015748 0.674015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000134 1 0.008668191 1 1.7E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 138357860 C T THSD7B ENST00000409968 r.? - - intronic 37 0 0 31 5 16.1 39 8 20.5 52 7 13.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.183823529 1.183823529 1 1.209439528 1.209439528 1 0.42519685 0.42519685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000476 1 2.09E-11 1 8.58E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 138752798 G A HNMT CCDS2181.1 r.? - - intronic 32 0 0 36 9 25 39 4 10.3 58 21 36.2 0 0 NA 1 0 0 0 0 NA 1 0 0 NA TRUE FALSE 1.838235294 1.838235294 1 0.607669617 0.607669617 1 1.14015748 1.14015748 1 0 0 1 NA NA 1 NA NA 1 9 NA 1 1 1.63E-13 1 0.0000447 1 1.34E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 138925116 G C - - - - - - 35 0 0 27 9 33.3 39 8 20.5 58 17 29.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.448529412 2.448529412 1 1.209439528 1.209439528 1 0.922834646 0.922834646 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.44E-15 1 2.09E-11 1 1.24E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 139782990 G A - - - - - - 35 0 0 34 4 11.8 40 8 20 57 17 29.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.867647059 0.867647059 1 1.179941003 1.179941003 1 0.938582677 0.938582677 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 2.61E-11 1 8.82E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 139785101 G A - - - - - - 25 0 0 23 4 17.4 34 7 20.6 67 25 37.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.279411765 1.279411765 1 1.215339233 1.215339233 1 1.17480315 1.17480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000513 1 3.73E-10 1 4.07E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 139805011 G C - - - - - - 30 0 0 32 5 15.6 31 3 9.7 55 20 36.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.147058824 1.147058824 1 0.572271386 0.572271386 1 1.146456693 1.146456693 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 0.000505952 1 4.08E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 140285717 T C - - - - - - 36 0 0 45 10 22.2 42 9 21.4 49 18 36.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.632352941 1.632352941 1 1.262536873 1.262536873 1 1.155905512 1.155905512 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.66E-14 1 7.51E-13 1 3.8E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 91630767 G T - - - - - - 9 0 0 11 0 0 13 4 30.8 24 5 20.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.817109145 1.817109145 1 0.65511811 0.65511811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 0.000000431 1 0.000000123 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 141252088 G T LRP1B CCDS2182.1 r.? - - intronic 23 0 0 37 5 13.5 23 3 13 67 15 22.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.992647059 0.992647059 1 0.766961652 0.766961652 1 0.705511811 0.705511811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000119 1 0.000205387 1 8.27E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 141628520 A G LRP1B CCDS2182.1 r.? - - intronic 40 0 0 39 8 20.5 48 9 18.8 65 21 32.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.507352941 1.507352941 1 1.109144543 1.109144543 1 1.017322835 1.017322835 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.09E-11 1 2.75E-12 1 2.35E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 142290705 G A LRP1B CCDS2182.1 r.? - - intronic 34 0 0 34 6 17.6 33 5 15.2 56 17 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.294117647 1.294117647 1 0.896755162 0.896755162 1 0.957480315 0.957480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.86E-08 1 0.00000066 1 6.22E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 142874892 G T LRP1B CCDS2182.1 r.? - - intronic 27 0 0 38 4 10.5 40 6 15 62 25 40.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.772058824 0.772058824 1 0.884955752 0.884955752 1 1.269291339 1.269291339 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000403 1 5.18E-08 1 3.68E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 146683705 T C - - - - - - 37 0 0 43 10 23.3 43 9 20.9 75 26 34.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.713235294 1.713235294 1 1.233038348 1.233038348 1 1.092913386 1.092913386 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.61E-14 1 9.45E-13 1 1.19E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 146818559 G C - - - - - - 34 0 0 31 7 22.6 33 6 18.2 56 21 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.661764706 1.661764706 1 1.073746313 1.073746313 1 1.181102362 1.181102362 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.85E-10 1 1.54E-08 1 5.43E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 148022966 C T - - - - - - 29 0 0 38 5 13.2 33 6 18.2 69 15 21.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.970588235 0.970588235 1 1.073746313 1.073746313 1 0.683464567 0.683464567 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000137 1 1.54E-08 1 1.34E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 148185774 T C - - - - - - 36 0 0 27 8 29.6 42 5 11.9 70 17 24.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.176470588 2.176470588 1 0.702064897 0.702064897 1 0.765354331 0.765354331 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.97E-13 1 0.00000228 1 4.68E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 148995292 G A MBD5 CCDS33302.1 r.? - - intronic 34 0 0 31 6 19.4 22 1 4.5 68 21 30.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.426470588 1.426470588 1 0.265486726 0.265486726 1 0.973228346 0.973228346 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.03E-08 1 0.104413009 1 7.15E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 150608910 G A - - - - - - 29 0 0 35 4 11.4 30 6 20 64 20 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838235294 0.838235294 1 1.179941003 1.179941003 1 0.982677165 0.982677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000289 1 8.37E-09 1 1.52E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 152543882 C T NEB CCDS46424.1 r.? - - intronic 42 0 0 34 8 23.5 35 8 22.9 75 32 42.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.727941176 1.727941176 1 1.351032448 1.351032448 1 1.34488189 1.34488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.32E-12 1 8.15E-12 1 2.95E-53 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 152816033 G T CACNB4 CCDS46428.1 r.? - - intronic 40 0 0 37 7 18.9 33 6 18.2 72 27 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.389705882 1.389705882 1 1.073746313 1.073746313 1 1.181102362 1.181102362 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.05E-10 1 1.54E-08 1 2.82E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 154151094 G T - - - - - - 25 0 0 34 5 14.7 40 3 7.5 66 21 31.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.080882353 1.080882353 1 0.442477876 0.442477876 1 1.001574803 1.001574803 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000771 1 0.001075403 1 3.42E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 154362692 T C - - - - - - 23 0 0 29 4 13.8 51 1 2 68 21 30.9 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 TRUE FALSE 1.014705882 1.014705882 1 0.1179941 0.1179941 1 0.973228346 0.973228346 1 NA NA 1 NA NA 1 0 0 1 6 NA 1 1 0.0000134 1 0.225579006 1 7.15E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 155096963 C A GALNT13 CCDS2199.1 r.? - - intronic 29 0 0 32 4 12.5 31 5 16.1 55 14 25.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 0.949852507 0.949852507 1 0.803149606 0.803149606 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 0.000000476 1 2.19E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 156189283 G A - - - - - - 36 0 0 27 6 22.2 34 8 23.5 67 11 16.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.632352941 1.632352941 1 1.386430678 1.386430678 1 0.516535433 0.516535433 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.23E-09 1 6.32E-12 1 4.85E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 156213667 T A - - - - - - 35 0 0 39 5 12.8 23 5 21.7 60 19 31.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.941176471 0.941176471 1 1.280235988 1.280235988 1 0.998425197 0.998425197 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000156 1 9.75E-08 1 3.21E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 156233300 G T - - - - - - 28 0 0 38 5 13.2 40 7 17.5 61 17 27.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.970588235 0.970588235 1 1.032448378 1.032448378 1 0.878740157 0.878740157 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000137 1 1.26E-09 1 3.33E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 156937056 G A - - - - - - 42 0 0 33 6 18.2 37 5 13.5 57 17 29.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.338235294 1.338235294 1 0.796460177 0.796460177 1 0.938582677 0.938582677 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.54E-08 1 0.00000119 1 8.82E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 159306676 G A CCDC148 CCDS33304.1 r.? - - intronic 27 0 0 35 4 11.4 40 5 12.5 64 26 40.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838235294 0.838235294 1 0.737463127 0.737463127 1 1.278740157 1.278740157 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000289 1 0.00000178 1 7.46E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 159407407 A C PKP4 CCDS33306.1 r.? - - intronic 29 0 0 33 3 9.1 36 9 25 58 16 27.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.669117647 0.669117647 1 1.474926254 1.474926254 1 0.869291339 0.869291339 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000609557 1 1.63E-13 1 1E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 164008848 T G - - - - - - 29 0 0 34 6 17.6 25 3 12 62 19 30.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.294117647 1.294117647 1 0.707964602 0.707964602 1 0.963779528 0.963779528 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.86E-08 1 0.00026475 1 6.66E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 165424773 A G GRB14 CCDS2222.1 r.? - - intronic 35 0 0 36 6 16.7 33 7 21.2 69 10 14.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 1.250737463 1.250737463 1 0.456692913 0.456692913 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.68E-08 1 2.98E-10 1 2.54E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 165576175 C T COBLL1 CCDS2223.2 r.? - - intronic 26 0 0 36 6 16.7 39 6 15.4 75 27 36 0 0 NA 1 0 0 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 0.908554572 0.908554572 1 1.133858268 1.133858268 1 0 0 1 NA NA 1 NA NA 1 9 NA 1 1 2.68E-08 1 4.43E-08 1 1.08E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 167239770 A T - - - - - - 34 0 0 22 3 13.6 36 5 13.9 58 20 34.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1 1 1 0.820058997 0.820058997 1 1.086614173 1.086614173 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000179267 1 0.00000104 1 1.47E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 167300481 A G SCN7A CCDS46442.1 r.? - - intronic 30 0 0 33 7 21.2 39 3 7.7 60 17 28.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.558823529 1.558823529 1 0.454277286 0.454277286 1 0.891338583 0.891338583 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.98E-10 1 0.000998458 1 2.41E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 167788346 G C XIRP2 CCDS42769.1 r.? - - intronic 30 0 0 31 6 19.4 20 4 20 69 22 31.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.426470588 1.426470588 1 1.179941003 1.179941003 1 1.004724409 1.004724409 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.03E-08 1 0.00000284 1 1.12E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 172332803 C T DCAF17 CCDS2243.2 r.? - - intronic 22 0 0 35 8 22.9 41 10 24.4 57 14 24.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.683823529 1.683823529 1 1.439528024 1.439528024 1 0.77480315 0.77480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.15E-12 1 9.51E-15 1 3.84E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 173743639 A T RAPGEF4 CCDS42775.1 r.? - - intronic 36 0 0 38 4 10.5 26 4 15.4 65 23 35.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.772058824 0.772058824 1 0.908554572 0.908554572 1 1.11496063 1.11496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000403 1 0.00000856 1 2.21E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 174789764 C T SP3 CCDS2254.1 r.? - - intronic 39 0 0 21 5 23.8 30 5 16.7 64 18 28.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.75 1.75 1 0.985250737 0.985250737 1 0.88503937 0.88503937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.95E-08 1 0.000000401 1 1.1E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 176571695 C T - - - - - - 35 0 0 41 9 22 31 5 16.1 61 21 34.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.617647059 1.617647059 1 0.949852507 0.949852507 1 1.083464567 1.083464567 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.92E-13 1 0.000000476 1 4.8E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 179617577 A G TTN ENST00000342992 r.? - - intronic 39 0 0 32 4 12.5 37 4 10.8 49 15 30.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 0.637168142 0.637168142 1 0.963779528 0.963779528 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 0.0000362 1 4.1E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 181066139 C G - - - - - - 41 0 0 35 6 17.1 36 9 25 59 11 18.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.257352941 1.257352941 1 1.474926254 1.474926254 1 0.585826772 0.585826772 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-08 1 1.63E-13 1 1.1E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 184840158 G A - - - - - - 36 0 0 27 8 29.6 26 6 23.1 50 14 28 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.176470588 2.176470588 1 1.362831858 1.362831858 1 0.881889764 0.881889764 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.97E-13 1 3.3E-09 1 4.84E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 185234391 T C - - - - - - 26 0 0 31 7 22.6 36 4 11.1 87 33 37.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.661764706 1.661764706 1 0.654867257 0.654867257 1 1.193700787 1.193700787 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.85E-10 1 0.0000324 1 9.41E-53 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 185313730 T A - - - - - - 29 0 0 31 6 19.4 54 12 22.2 68 17 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.426470588 1.426470588 1 1.309734513 1.309734513 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.03E-08 1 6.9E-17 1 2.69E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 186176684 G T - - - - - - 30 0 0 40 10 25 38 13 34.2 62 21 33.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.838235294 1.838235294 1 2.017699115 2.017699115 1 1.067716535 1.067716535 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.22E-15 1 5.88E-21 1 7.22E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 11612974 C A - - - - - - 31 0 0 74 7 9.5 73 16 21.9 177 34 19.2 73 0 0 364 43 11.8 496 40 8.1 1.85E-23 576 81 14.1 TRUE TRUE 1.046017652 1.046017652 1 2.043309711 1.021654855 2 1.102953815 1.102953815 1 1.299264031 0.783741586 1.657770947 0.755744688 0.755744688 1 0.809981708 0.809981708 1 9 11 1 1 0.000000105 3.96E-44 6.15E-22 1.57E-34 8.93E-43 6.58E-88 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 2 186846438 G T - - - - - - 29 0 0 29 11 37.9 33 8 24.2 69 19 27.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.786764706 2.786764706 1 1.427728614 1.427728614 1 0.866141732 0.866141732 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.56E-18 1 4.85E-12 1 6.95E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 187564868 G A FAM171B CCDS33347.1 r.? - - intronic 44 0 0 31 7 22.6 25 3 12 82 23 28 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.661764706 1.661764706 1 0.707964602 0.707964602 1 0.881889764 0.881889764 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.85E-10 1 0.00026475 1 1.19E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 188408049 T C TFPI CCDS2294.1 r.? - - intronic 34 0 0 42 4 9.5 48 6 12.5 61 23 37.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.698529412 0.698529412 1 0.737463127 0.737463127 1 1.187401575 1.187401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000601 1 0.00000016 1 3.73E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 188955589 T A - - - - - - 27 0 0 35 5 14.3 30 6 20 76 20 26.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 1.179941003 1.179941003 1 0.828346457 0.828346457 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000895 1 8.37E-09 1 7.96E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 189602542 G A DIRC1 CCDS2296.1 r.? - - intronic 31 0 0 42 5 11.9 47 8 17 56 17 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.875 0.875 1 1.002949853 1.002949853 1 0.957480315 0.957480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000228 1 1.03E-10 1 6.22E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 189820770 G C - - - - - - 24 0 0 48 8 16.7 38 8 21.1 63 15 23.8 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 TRUE FALSE 1.227941176 1.227941176 1 1.244837758 1.244837758 1 0.749606299 0.749606299 1 NA NA 1 NA NA 1 0 0 1 9 NA 1 1 1.23E-10 1 1.67E-11 1 2.97E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 190376954 C A - - - - - - 30 0 0 38 4 10.5 42 0 0 66 0 0 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 0.772058824 0.772058824 1 0 0 1 0 0 1 NA NA 1 0 0 1 NA NA 1 8 NA 1 1 0.0000403 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 191707146 G T - - - - - - 36 0 0 37 5 13.5 50 11 22 56 19 33.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.992647059 0.992647059 1 1.297935103 1.297935103 1 1.067716535 1.067716535 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000119 1 1.52E-15 1 6.79E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 192278089 A T MYO1B CCDS46477.1 r.? - - intronic 31 0 0 28 6 21.4 49 8 16.3 50 20 40 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.573529412 1.573529412 1 0.961651917 0.961651917 1 1.25984252 1.25984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.36E-09 1 1.47E-10 1 3.9E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 192742748 C T - - - - - - 29 0 0 37 6 16.2 42 8 19 78 16 20.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.191176471 1.191176471 1 1.120943953 1.120943953 1 0.645669291 0.645669291 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.18E-08 1 3.96E-11 1 1.96E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 193517557 C A - - - - - - 38 0 0 25 5 20 35 6 17.1 61 15 24.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 1.008849558 1.008849558 1 0.77480315 0.77480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000153 1 2.24E-08 1 1.73E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 194456501 C T - - - - - - 28 0 0 26 5 19.2 10 1 10 58 18 31 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.411764706 1.411764706 1 0.589970501 0.589970501 1 0.976377953 0.976377953 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000188 1 0.04888987 1 1.42E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 195390863 T C - - - - - - 26 0 0 36 4 11.1 25 9 36 55 13 23.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 2.123893805 2.123893805 1 0.743307087 0.743307087 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000324 1 3.71E-15 1 1.46E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 195467720 C G - - - - - - 26 0 0 37 4 10.8 29 1 3.4 58 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 0.200589971 0.200589971 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.0000362 1 0.135292269 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 195811924 A C - - - - - - 27 0 0 23 6 26.1 36 3 8.3 72 23 31.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.919117647 1.919117647 1 0.489675516 0.489675516 1 1.004724409 1.004724409 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.47E-09 1 0.000788827 1 3.67E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 196465054 G A SLC39A10 ENST00000458054 r.? - - intronic 22 0 0 33 6 18.2 25 4 16 59 17 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.338235294 1.338235294 1 0.943952802 0.943952802 1 0.907086614 0.907086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.54E-08 1 0.00000727 1 1.74E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 197075782 A C HECW2 CCDS33354.1 r.? - - intronic 51 0 0 34 5 14.7 36 2 5.6 47 14 29.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.080882353 1.080882353 1 0.330383481 0.330383481 1 0.938582677 0.938582677 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000771 1 0.014070883 1 1.79E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 197232165 T A HECW2 CCDS33354.1 r.? - - intronic 30 0 0 31 3 9.7 39 0 0 71 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.713235294 0.713235294 1 0 0 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.000505952 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 197739283 T C PGAP1 CCDS2318.1 r.? - - intronic 35 0 0 28 4 14.3 42 8 19 86 34 39.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 1.120943953 1.120943953 1 1.244094488 1.244094488 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000116 1 3.96E-11 1 4.6E-55 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 197739296 T C PGAP1 CCDS2318.1 r.? - - intronic 34 0 0 27 4 14.8 41 6 14.6 83 34 41 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.088235294 1.088235294 1 0.861356932 0.861356932 1 1.291338583 1.291338583 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00001 1 6.05E-08 1 1.01E-55 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 198425579 A C - - - - - - 37 0 0 34 9 26.5 18 5 27.8 72 17 23.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.948529412 1.948529412 1 1.640117994 1.640117994 1 0.743307087 0.743307087 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.15E-14 1 2.54E-08 1 7.97E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 199170463 C A - - - - - - 38 0 0 29 5 17.2 44 5 11.4 54 13 24.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.264705882 1.264705882 1 0.672566372 0.672566372 1 0.759055118 0.759055118 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000336 1 0.00000288 1 1.12E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 199172307 C T - - - - - - 35 0 0 30 5 16.7 25 4 16 63 21 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 0.943952802 0.943952802 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 0.00000727 1 1.08E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 199466662 G C - - - - - - 28 0 0 34 4 11.8 38 6 15.8 57 19 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.867647059 0.867647059 1 0.932153392 0.932153392 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 3.76E-08 1 1.01E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 202735990 C T CDK15 CCDS2350.1 r.? - - intronic 30 0 0 35 6 17.1 31 4 12.9 68 22 32.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.257352941 1.257352941 1 0.761061947 0.761061947 1 1.020472441 1.020472441 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-08 1 0.0000177 1 7.67E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 203501421 A G FAM117B CCDS33362.1 r.? - - intronic 29 0 0 38 5 13.2 30 7 23.3 79 23 29.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.970588235 0.970588235 1 1.374631268 1.374631268 1 0.916535433 0.916535433 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000137 1 1.44E-10 1 4.43E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 206102244 T G PARD3B CCDS42806.1 r.? - - intronic 43 0 0 31 4 12.9 35 1 2.9 75 21 28 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.948529412 0.948529412 1 0.171091445 0.171091445 1 0.881889764 0.881889764 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000177 1 0.16091139 1 7.75E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 206388861 C T PARD3B CCDS42806.1 r.? - - intronic 34 0 0 35 10 28.6 34 6 17.6 60 16 26.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.102941176 2.102941176 1 1.038348083 1.038348083 1 0.840944882 0.840944882 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.6E-15 1 1.86E-08 1 1.86E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 206678475 G A - - - - - - 27 0 0 33 4 12.1 41 3 7.3 67 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 0.430678466 0.430678466 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.0000228 1 0.001155993 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 209774074 T C - - - - - - 22 0 0 33 7 21.2 34 4 11.8 62 21 33.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.558823529 1.558823529 1 0.696165192 0.696165192 1 1.067716535 1.067716535 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.98E-10 1 0.0000257 1 7.22E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 210420150 A G MAP2 CCDS33369.1 r.? - - intronic 34 0 0 31 7 22.6 32 7 21.9 63 19 30.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.661764706 1.661764706 1 1.292035398 1.292035398 1 0.951181102 0.951181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.85E-10 1 2.36E-10 1 9.48E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 212375356 T C ERBB4 CCDS2394.1 r.? - - intronic 39 0 0 40 7 17.5 33 6 18.2 62 15 24.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.286764706 1.286764706 1 1.073746313 1.073746313 1 0.762204724 0.762204724 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.26E-09 1 1.54E-08 1 2.28E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 213724695 A T - - - - - - 32 0 0 27 5 18.5 24 2 8.3 79 21 26.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.360294118 1.360294118 1 0.489675516 0.489675516 1 0.837795276 0.837795276 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000023 1 0.006413403 1 2.69E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 214701763 T G SPAG16 CCDS2396.1 r.? - - intronic 32 0 0 40 7 17.5 41 12 29.3 63 23 36.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.286764706 1.286764706 1 1.728613569 1.728613569 1 1.149606299 1.149606299 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.26E-09 1 1.69E-18 1 9.25E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 214910241 G A SPAG16 CCDS2396.1 r.? - - intronic 28 0 0 30 4 13.3 31 4 12.9 59 24 40.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.977941176 0.977941176 1 0.761061947 0.761061947 1 1.281889764 1.281889764 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000154 1 0.0000177 1 1.09E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 216303969 C T FN1 CCDS42814.1 r.? - - upstream 29 0 0 32 9 28.1 38 7 18.4 47 13 27.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.066176471 2.066176471 1 1.085545723 1.085545723 1 0.872440945 0.872440945 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.94E-14 1 8.61E-10 1 1.47E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 216636733 G C - - - - - - 29 0 0 40 5 12.5 55 12 21.8 72 23 31.9 0 0 NA 1 0 0 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 1.286135693 1.286135693 1 1.004724409 1.004724409 1 0 0 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000178 1 8.78E-17 1 3.67E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 219879458 A G CCDC108 CCDS2430.2 r.? - - intronic 34 0 0 20 5 25 20 2 10 44 12 27.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.838235294 1.838235294 1 0.589970501 0.589970501 1 0.85984252 0.85984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.55E-08 1 0.004473894 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 223047380 C T - - - - - - 37 0 0 33 4 12.1 34 4 11.8 59 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 0.696165192 0.696165192 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.0000228 1 0.0000257 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 223588228 T A - - - - - - 35 0 0 33 5 15.2 18 0 0 45 1 2.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.117647059 1.117647059 1 0 0 1 0.069291339 0.069291339 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.00000066 1 1 1 0.201934322 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 223687042 C T - - - - - - 29 0 0 27 4 14.8 38 4 10.5 57 17 29.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.088235294 1.088235294 1 0.619469027 0.619469027 1 0.938582677 0.938582677 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00001 1 0.0000403 1 8.82E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 223824124 C T - - - - - - 34 0 0 41 5 12.2 25 7 28 63 22 34.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.897058824 0.897058824 1 1.651917404 1.651917404 1 1.099212598 1.099212598 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000202 1 3.47E-11 1 1.03E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 224497965 G T - - - - - - 26 0 0 25 4 16 28 3 10.7 68 18 26.5 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 1.176470588 1.176470588 1 0.631268437 0.631268437 1 0.834645669 0.834645669 1 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 0.00000727 1 0.000372895 1 3.83E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 225560657 C G - - - - - - 27 0 0 38 7 18.4 18 1 5.6 62 22 35.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.352941176 1.352941176 1 0.330383481 0.330383481 1 1.118110236 1.118110236 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.61E-10 1 0.086275114 1 6.75E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 228300730 G T - - - - - - 40 0 0 38 6 15.8 28 5 17.9 70 19 27.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.161764706 1.161764706 1 1.056047198 1.056047198 1 0.853543307 0.853543307 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.76E-08 1 0.000000279 1 9.5E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 228957813 T C SPHKAP CCDS46537.1 r.? - - intronic 32 0 0 41 4 9.8 37 5 13.5 48 15 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.720588235 0.720588235 1 0.796460177 0.796460177 1 0.982677165 0.982677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000546 1 0.00000119 1 2.86E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 229135251 C G - - - - - - 22 0 0 40 8 20 41 2 4.9 66 20 30.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 0.289085546 0.289085546 1 0.954330709 0.954330709 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.61E-11 1 0.018015855 1 3.11E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 229853384 A T - - - - - - 46 0 0 38 5 13.2 38 9 23.7 65 26 40 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.970588235 0.970588235 1 1.398230088 1.398230088 1 1.25984252 1.25984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000137 1 2.79E-13 1 1.24E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 230532509 A C DNER CCDS33390.1 r.? - - intronic 31 0 0 29 6 20.7 40 8 20 74 16 21.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.522058824 1.522058824 1 1.179941003 1.179941003 1 0.680314961 0.680314961 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.72E-09 1 2.61E-11 1 7.81E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 230894032 A T - - - - - - 26 0 0 45 4 8.9 25 3 12 72 14 19.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.654411765 0.654411765 1 0.707964602 0.707964602 1 0.611023622 0.611023622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000791 1 0.00026475 1 1.39E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 241841260 C G C2orf54 ENST00000414499 r.? - - upstream 31 0 0 29 7 24.1 13 3 23.1 53 20 37.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.772058824 1.772058824 1 1.362831858 1.362831858 1 1.187401575 1.187401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.11E-10 1 0.0000344 1 1.65E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 213565 C T DEFB129 CCDS12992.1 r.? - - downstream 29 0 0 47 5 10.6 36 2 5.6 71 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.779411765 0.779411765 1 0.234494825 0.815059894 0.287702568 0 0 1 NA NA 1 NA NA 0 NA NA 1 7 NA 1 1 0.00000402 1 0.014070883 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 888271 C T ANGPT4 CCDS13009.1 r.? - - intronic 37 0 0 40 8 20 26 2 7.7 70 29 41.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 0.322430384 1.120707354 0.287702568 1.303937008 1.303937008 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.61E-11 1 0.007502227 1 6.18E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 2664349 G T ENSG00000234609 ENST00000414229 r.? - - downstream 30 0 0 37 11 29.7 43 10 23.3 89 36 40.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.416609264 1.208304632 2 1.516065686 1.516065686 1 1.676440945 0.838220472 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.7E-17 1 1.61E-14 1 1.17E-58 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 4321662 G T - - - - - - 32 0 0 35 7 20 35 15 42.9 87 41 47.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.627346306 1.627346306 1 2.791382744 1.395691372 2 1.954464567 0.977232283 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 4.65E-10 1 9.02E-26 1 4.16E-70 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 5448658 C T - - - - - - 22 0 0 38 10 26.3 46 18 39.1 104 50 48.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.139960392 1.069980196 2 2.544127396 1.272063698 2 1.99596063 0.997980315 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 4.06E-15 1 9.41E-30 1 9.99E-86 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 7534774 A G - - - - - - 43 0 0 27 4 14.8 49 6 12.2 89 19 21.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.204236266 1.204236266 1 0.793819801 0.793819801 1 0.883866142 0.883866142 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00001 1 0.000000182 1 1.55E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 8469524 G T PLCB1 CCDS13103.1 r.? - - intronic 39 0 0 47 5 10.6 41 3 7.3 84 23 27.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.862493542 0.862493542 1 0.474990537 0.474990537 1 1.136992126 1.136992126 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000402 1 0.001155993 1 2.25E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 141134279 A G LRP1B CCDS2182.1 r.? - - intronic 20 0 0 32 5 15.6 50 9 18 60 16 26.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.147058824 1.147058824 1 1.061946903 1.061946903 1 0.840944882 0.840944882 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 4.07E-12 1 1.86E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 9560547 C T PAK7 CCDS13107.1 r.? - - intronic 25 0 0 33 5 15.2 38 6 15.8 93 22 23.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.236783192 1.236783192 1 1.02806171 1.02806171 1 0.983456693 0.983456693 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 3.76E-08 1 2.05E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 11379924 T C - - - - - - 28 0 0 41 5 12.2 43 5 11.6 76 19 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.992681246 0.992681246 1 0.754779483 0.754779483 1 1.037401575 1.037401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000202 1 0.00000257 1 5.56E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 11435384 C T - - - - - - 36 0 0 37 8 21.6 46 17 37 88 45 51.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.75753401 1.75753401 1 2.407486283 1.203743141 2 2.120448819 1.060224409 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.33E-11 1 1.16E-27 1 5.91E-79 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 11895486 T G BTBD3 CCDS13113.1 r.? - - intronic 45 0 0 34 13 38.2 56 21 37.5 98 59 60.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.108231444 1.554115722 2 2.440019881 1.220009941 2 2.498062992 1.249031496 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.03E-21 1 5.43E-34 1 4.77E-109 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 12099849 C G - - - - - - 38 0 0 49 4 8.2 54 4 7.4 97 21 21.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.667211985 0.667211985 1 0.481497257 0.481497257 1 0.896314961 0.896314961 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000110643 1 0.000161898 1 3.31E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 12457906 C T - - - - - - 43 0 0 37 8 21.6 52 7 13.5 100 15 15 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.75753401 1.75753401 1 0.878407157 0.878407157 1 0.622440945 0.622440945 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.33E-11 1 8.58E-09 1 5.19E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 12914730 T C - - - - - - 45 0 0 40 5 12.5 43 9 20.9 101 21 20.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.017091441 1.017091441 1 1.359904414 1.359904414 1 0.86311811 0.86311811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000178 1 9.45E-13 1 8.38E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 13111505 C T SPTLC3 CCDS13115.2 r.? - - intronic 23 0 0 35 7 20 49 4 8.2 72 22 30.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.627346306 1.627346306 1 0.533551014 0.533551014 1 1.269779528 1.269779528 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.65E-10 1 0.000110643 1 3.36E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 13616937 C A TASP1 CCDS13116.1 r.? - - intronic 30 0 0 23 5 21.7 25 3 12 73 36 49.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.765670742 1.765670742 1 0.780806362 0.780806362 1 2.045755906 1.022877953 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.75E-08 1 0.00026475 1 1.06E-62 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 15675434 G T MACROD2 CCDS13120.2 r.? - - intronic 26 0 0 36 13 36.1 54 16 29.6 113 46 40.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.937360082 1.468680041 2 1.925989026 0.962994513 2 1.688889764 0.844444882 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.53E-21 1 2.69E-24 1 1.14E-74 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 15811967 G A MACROD2 CCDS13120.2 r.? - - intronic 33 0 0 47 7 14.9 41 2 4.9 90 21 23.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.212372998 1.212372998 1 0.318829264 0.318829264 1 0.966858268 0.966858268 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.12E-09 1 0.018015855 1 5.83E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 16112017 A G - - - - - - 25 0 0 33 4 12.1 39 6 15.4 69 14 20.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.984544515 0.984544515 1 1.002034831 1.002034831 1 0.842370079 0.842370079 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 4.43E-08 1 7.3E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 11613008 C G - - - - - - 32 0 0 63 7 11.1 65 16 24.6 154 28 18.2 43 0 0 349 35 10 471 37 7.9 1.95E-21 550 68 12.4 TRUE TRUE 1.222189046 1.222189046 1 2.295224607 0.893249056 2.569523686 1.045508304 1.045508304 1 1.101071212 1.101071212 1 0.737084325 0.737084325 1 0.712324339 1.197294795 0.594944822 9 12 1 1 3.38E-08 1.04E-33 7.85E-23 1.19E-31 8.65E-35 3.71E-70 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 20 19296014 C T SLC24A3 CCDS13140.1 r.? - - intronic 30 0 0 36 8 22.2 32 14 43.8 77 36 46.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.806354399 1.806354399 1 2.849943221 1.424971611 2 1.942015748 0.971007874 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.04E-11 1 2.65E-24 1 1.39E-61 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 21201466 C T - - - - - - 40 0 0 39 4 10.3 23 1 4.3 70 18 25.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838083347 0.838083347 1 0.279788946 0.279788946 1 1.066448819 1.066448819 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000447 1 0.108890944 1 6.91E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 21994627 T C - - - - - - 34 0 0 44 9 20.5 49 12 24.5 94 46 48.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.668029963 1.668029963 1 1.594146322 1.594146322 1 2.02915748 1.01457874 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.18E-12 1 1.9E-17 1 1.79E-79 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 22122795 G T - - - - - - 26 0 0 43 7 16.3 45 7 15.6 89 29 32.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.326287239 1.326287239 1 1.015048271 1.015048271 1 1.352771654 0.676385827 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.15E-09 1 0.000000003 1 3.13E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 22269995 T G - - - - - - 33 0 0 39 7 17.9 37 2 5.4 92 21 22.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.456474944 1.456474944 1 0.351362863 0.351362863 1 0.946110236 0.946110236 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.04E-09 1 0.014826063 1 9.72E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 22447965 G A - - - - - - 29 0 0 27 7 25.9 50 15 30 71 32 45.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.107413466 1.053706733 2 1.952015905 0.976007952 2 1.871472441 0.93573622 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.36E-11 1 5.83E-23 1 3.05E-54 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 22768612 T A - - - - - - 36 0 0 43 6 14 31 6 19.4 76 17 22.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.139142414 1.139142414 1 1.262303619 1.262303619 1 0.929511811 0.929511811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.13E-08 1 1.03E-08 1 2.21E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 25130646 A G - - - - - - 39 0 0 32 8 25 23 1 4.3 72 12 16.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.975606443 1.275008767 1.549484594 0.231069688 NA 0 0.525984252 0.525984252 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 3.69E-12 1 0.108890944 1 2.84E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 25382536 A G - - - - - - 40 0 0 33 6 18.2 27 1 3.7 67 26 38.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.43824149 1.43824149 1 0.198827406 NA 0 1.222047244 1.222047244 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1.54E-08 1 0.126579904 1 3.31E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 25712525 C T - - - - - - 36 0 0 36 8 22.2 29 5 17.2 62 17 27.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.754338521 1.754338521 1 0.924278753 0.924278753 1 0.862992126 0.862992126 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.04E-11 1 0.000000336 1 4.56E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 29809692 G T - - - - - - 38 0 0 34 10 29.4 41 13 31.7 74 35 47.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.323313177 1.49941031 1.549484594 1.703467237 1.703467237 1 1.96276378 0.98138189 2 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 1.15E-15 1 1.89E-20 1 3.78E-60 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 32526983 C T - - - - - - 32 0 0 30 6 20 29 4 13.8 83 23 27.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.580485154 1.580485154 1 0.741572488 0.741572488 1 1.149440945 1.149440945 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 8.37E-09 1 0.0000134 1 1.64E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 32734354 A G - - - - - - 29 0 0 35 4 11.4 43 7 16.3 86 14 16.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.900876538 0.900876538 1 0.87591533 0.87591533 1 0.676385827 0.676385827 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000289 1 2.15E-09 1 1.98E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 33818707 T A MMP24 CCDS46593.1 r.? - - intronic 34 0 0 29 5 17.2 39 3 7.7 81 14 17.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.359217233 1.359217233 1 0.413775953 0.413775953 1 0.71788189 0.71788189 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000336 1 0.000998458 1 8.14E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 33853239 C T MMP24 CCDS46593.1 r.? - - intronic 21 0 0 25 5 20 26 7 26.9 69 21 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.580485154 1.580485154 1 1.44552898 1.44552898 1 1.261480315 1.261480315 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000153 1 4.73E-11 1 1.02E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 36477404 C T CTNNBL1 CCDS13298.1 r.? - - intronic 32 0 0 43 7 16.3 26 8 30.8 80 15 18.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.288095401 1.288095401 1 1.655103814 1.655103814 1 0.780125984 0.780125984 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.15E-09 1 5.63E-13 1 1.49E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 37361785 G T SLC32A1 CCDS13307.1 r.? - - downstream 45 0 0 24 7 29.2 31 3 9.7 85 22 25.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.307508325 1.48921024 1.549484594 0.521250227 0.521250227 1 1.074748031 1.074748031 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.51E-11 1 0.000505952 1 2.23E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 37976566 G A - - - - - - 22 0 0 30 5 16.7 17 3 17.6 98 52 53.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.319705104 1.319705104 1 0.945773608 0.945773608 1 2.203440945 1.101720472 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000401 1 0.0000807 1 3.76E-92 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 38488957 T G - - - - - - 28 0 0 41 6 14.6 48 6 12.5 82 29 35.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.153754163 1.153754163 1 0.67171421 0.67171421 1 1.46896063 0.734480315 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 6.05E-08 1 0.00000016 1 1.81E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 40282197 G A - - - - - - 47 0 0 30 8 26.7 32 7 21.9 89 40 44.9 0 0 NA 0 0 NA 0 0 NA 1 2 2 100 TRUE FALSE 2.109947681 1.361709364 1.549484594 1.176843296 1.176843296 1 1.863173228 0.931586614 2 NA NA 1 NA NA 0 4.149606299 2.07480315 2 9 NA 1 1 2.07E-12 1 2.36E-10 1 2.38E-67 0.000025 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 43895905 T A - - - - - - 24 0 0 40 10 25 36 11 30.6 86 50 58.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.975606443 1.275008767 1.549484594 1.644356386 1.644356386 1 2.41092126 1.20546063 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 7.22E-15 1 2.62E-17 1 1.59E-91 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 45205673 G A SLC13A3 CCDS42886.1 r.? - - intronic 25 0 0 24 5 20.8 18 3 16.7 59 15 25.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.64370456 1.64370456 1 0.897410185 0.897410185 1 1.054 1.054 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000123 1 0.0000964 1 9.9E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 45287358 C T SLC13A3 CCDS42886.1 r.? - - intronic 28 0 0 36 5 13.9 44 12 27.3 98 28 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.098437182 1.098437182 1 1.467023835 1.467023835 1 1.186787402 1.186787402 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000104 1 4.44E-18 1 6.85E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 47296684 G A PREX1 CCDS13410.1 r.? - - intronic 28 0 0 30 6 20 12 2 16.7 82 21 25.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.580485154 1.580485154 1 0.897410185 0.897410185 1 1.062299213 1.062299213 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 8.37E-09 1 0.001595918 1 6.53E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 52170166 A T - - - - - - 29 0 0 39 6 15.4 25 4 16 86 19 22.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.216973569 1.216973569 1 0.859794189 0.859794189 1 0.917062992 0.917062992 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 4.43E-08 1 0.00000727 1 7.57E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 53540945 A T - - - - - - 39 0 0 40 4 10 34 9 26.5 87 18 20.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.790242577 0.790242577 1 1.424034125 1.424034125 1 0.858968504 0.858968504 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.0000495 1 9.15E-14 1 5.29E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 54108068 C T - - - - - - 31 0 0 35 6 17.1 42 7 16.7 94 28 29.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.351314807 1.351314807 1 0.897410185 0.897410185 1 1.236582677 1.236582677 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 2.24E-08 1 1.81E-09 1 1.77E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 57182221 A G - - - - - - 29 0 0 38 4 10.5 36 4 11.1 102 25 24.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.829754706 0.829754706 1 0.596482219 0.596482219 1 1.016653543 1.016653543 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.0000403 1 0.0000324 1 8.78E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 57249436 A G STX16 CCDS13468.1 r.? - - intronic 34 0 0 46 4 8.7 45 9 20 76 20 26.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.687511042 0.687511042 1 1.074742736 1.074742736 1 1.091346457 1.091346457 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.0000862 1 1.47E-12 1 7.96E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 59049852 C T - - - - - - 30 0 0 34 5 14.7 38 3 7.9 106 33 31.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.161656588 1.161656588 1 0.424523381 0.424523381 1 1.290527559 1.290527559 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.000000771 1 0.000925091 1 2.41E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 11613177 C T - - - - - - 23 0 0 63 8 12.7 78 14 17.9 211 39 18.5 130 0 0 494 57 11.5 521 51 9.8 1.82E-33 629 84 13.4 TRUE TRUE 1.39836044 1.39836044 1 1.670102458 1.064082353 1.569523686 1.062741957 1.062741957 1 1.266231894 0.763815952 1.657770947 0.91435777 0.91435777 1 0.76976985 0.76976985 1 9 11 1 1 1.18E-09 2.41E-57 4.63E-18 8.2E-48 4.03E-48 3.86E-89 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 20 61892691 C T NKAIN4 ENST00000370307 r.? - - intronic 31 0 0 23 4 17.4 6 1 16.7 59 22 37.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.375022084 1.375022084 1 0.897410185 0.897410185 1 1.54780315 0.773901575 2 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.00000513 1 0.029627491 1 1.79E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 9721941 T G - - - - - - 74 0 0 85 11 12.9 83 6 7.2 149 17 11.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.819529412 0.819529412 1 0.352778761 0.352778761 1 0.252858126 0.252858126 1 NA NA 1 NA NA 1 NA NA 0 7 NA 1 1 7.42E-13 1 0.00000424 1 3.91E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 11613181 C T - - - - - - 23 0 0 64 8 12.5 80 15 18.8 211 38 18 131 0 0 476 55 11.6 509 50 9.8 6.45E-33 623 84 13.5 TRUE TRUE 1.376339015 1.376339015 1 1.75407409 1.117583701 1.569523686 1.034019202 1.034019202 1 1.277242606 0.77045783 1.657770947 0.91435777 0.91435777 1 0.775514401 0.775514401 1 9 11 1 1 1.35E-09 1.99E-55 1.49E-19 5.51E-47 1.81E-46 1.68E-89 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 21 14855645 T A - - - - - - 31 0 0 25 4 16 13 2 15.4 30 13 43.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.016470588 1.016470588 1 0.754554572 0.754554572 1 0.960417267 0.960417267 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00000727 1 0.001879825 1 1.35E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 16059258 C T - - - - - - 35 0 0 31 5 16.1 35 7 20 38 21 55.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.022823529 1.022823529 1 0.979941003 0.979941003 1 1.226583715 1.226583715 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000476 1 4.65E-10 1 1.27E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 16243924 C G - - - - - - 32 0 0 42 8 19 33 5 15.2 42 22 52.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.207058824 1.207058824 1 0.744755162 0.744755162 1 1.162260156 1.162260156 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.96E-11 1 0.00000066 1 1.11E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 19705479 G A PRSS7 CCDS13571.1 r.? - - intronic 30 0 0 29 5 17.2 29 8 27.6 38 22 57.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.092705882 1.092705882 1 1.352318584 1.352318584 1 1.284253112 1.284253112 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000336 1 1.53E-12 1 4.91E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 20224859 C T - - - - - - 34 0 0 33 8 24.2 37 8 21.6 36 16 44.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.537411765 1.537411765 1 1.058336283 1.058336283 1 0.984815858 0.984815858 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.85E-12 1 1.33E-11 1 1.01E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 21554742 T A - - - - - - 14 0 0 33 5 15.2 41 6 14.6 52 13 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.117647059 1.117647059 1 0.861356932 0.861356932 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 6.05E-08 1 6.47E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 21683948 T A - - - - - - 33 0 0 30 5 16.7 44 3 6.8 50 11 22 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 0.401179941 0.401179941 1 0.692913386 0.692913386 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 0.00142027 1 1.52E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 24690869 A T - - - - - - 31 0 0 32 4 12.5 15 1 6.7 69 15 21.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 0.395280236 0.395280236 1 0.683464567 0.683464567 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 0.072431031 1 1.34E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 25543866 T A - - - - - - 15 0 0 18 3 16.7 30 4 13.3 41 15 36.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 0.784660767 0.784660767 1 1.152755906 1.152755906 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000964 1 0.0000154 1 1.71E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 25881083 G A - - - - - - 29 0 0 32 7 21.9 34 4 11.8 58 17 29.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.610294118 1.610294118 1 0.696165192 0.696165192 1 0.922834646 0.922834646 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.36E-10 1 0.0000257 1 1.24E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 28998219 T C - - - - - - 29 0 0 28 6 21.4 37 7 18.9 63 23 36.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.573529412 1.573529412 1 1.115044248 1.115044248 1 1.149606299 1.149606299 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.36E-09 1 7.05E-10 1 9.25E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 29219750 A T - - - - - - 36 0 0 44 10 22.7 30 5 16.7 62 15 24.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.669117647 1.669117647 1 0.985250737 0.985250737 1 0.762204724 0.762204724 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.08E-14 1 0.000000401 1 2.28E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 29560068 C T - - - - - - 27 0 0 39 5 12.8 43 8 18.6 59 15 25.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.941176471 0.941176471 1 1.097345133 1.097345133 1 0.8 0.8 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000156 1 4.85E-11 1 9.9E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 30502634 C G C21orf7 CCDS13584.1 r.? - - intronic 25 0 0 37 5 13.5 28 3 10.7 57 15 26.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.992647059 0.992647059 1 0.631268437 0.631268437 1 0.828346457 0.828346457 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000119 1 0.000372895 1 5.53E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 31733282 C T KRTAP13-2 ENST00000448917 r.? - - intronic 24 0 0 41 5 12.2 25 1 4 40 12 30 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.897058824 0.897058824 1 0.235988201 0.235988201 1 0.94488189 0.94488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000202 1 0.117779757 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 32190033 A G KRTAP8-1 CCDS13607.1 r.? - - upstream 34 0 0 45 8 17.8 39 11 28.2 59 17 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.308823529 1.308823529 1 1.663716814 1.663716814 1 0.907086614 0.907086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.14E-11 1 7.2E-17 1 1.74E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 40078911 G A - - - - - - 23 0 0 39 8 20.5 38 6 15.8 64 18 28.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.507352941 1.507352941 1 0.932153392 0.932153392 1 0.88503937 0.88503937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.09E-11 1 3.76E-08 1 1.1E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 40176338 T A ETS2 CCDS13659.1 r.? - - upstream 37 0 0 30 3 10 22 1 4.5 56 24 42.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 0.265486726 0.265486726 1 1.351181102 1.351181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000458697 1 0.104413009 1 2.23E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 40698172 C T - - - - - - 26 0 0 31 5 16.1 15 2 13.3 56 15 26.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.183823529 1.183823529 1 0.784660767 0.784660767 1 0.844094488 0.844094488 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000476 1 0.002513772 1 4.09E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 41137011 C T IGSF5 CCDS33562.1 r.? - - intronic 42 0 0 37 7 18.9 40 6 15 57 16 28.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.389705882 1.389705882 1 0.884955752 0.884955752 1 0.88503937 0.88503937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.05E-10 1 5.18E-08 1 7.28E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 41550428 G A DSCAM CCDS42929.1 r.? - - intronic 35 0 0 27 6 22.2 38 4 10.5 60 13 21.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.632352941 1.632352941 1 0.619469027 0.619469027 1 0.683464567 0.683464567 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.23E-09 1 0.0000403 1 5.07E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 47881960 C G DIP2A CCDS46655.1 r.? - - intronic 24 0 0 31 6 19.4 27 2 7.4 57 19 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.426470588 1.426470588 1 0.320531824 0.742304951 0.431806125 1.048818898 1.048818898 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.03E-08 1 0.00807567 1 1.01E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 48108574 A T - - - - - - 14 0 0 18 3 16.7 17 0 0 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 0.0000964 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 17891239 C A CECR2 ENST00000400585 r.? - - intronic 25 0 0 34 8 23.5 44 7 15.9 67 29 43.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.727941176 1.727941176 1 0.620053097 0.620053097 1 1.363779528 1.363779528 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 6.32E-12 1 2.55E-09 1 1.22E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 17950627 A C CECR2 ENST00000400585 r.? - - intronic 26 0 0 38 4 10.5 20 2 10 58 17 29.3 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.772058824 0.772058824 1 0.389970501 0.389970501 1 0.922834646 0.922834646 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000403 1 0.004473894 1 1.24E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 19093129 C T DGCR2 CCDS33598.1 r.? - - intronic 32 0 0 37 6 16.2 5 2 40 84 24 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.191176471 1.191176471 1 1.559882006 1.559882006 1 0.900787402 0.900787402 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.18E-08 1 0.000247509 1 2.87E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 210751264 T C UNC80 CCDS46504.1 r.? - - intronic 34 0 0 33 4 12.1 44 6 13.6 64 22 34.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 0.802359882 0.802359882 1 1.083464567 1.083464567 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 9.37E-08 1 1.57E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 21321369 G A AIFM3 CCDS13786.1 r.? - - intronic 27 0 0 17 5 29.4 0 0 NA 48 10 20.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 2.161764706 2.161764706 1 NA NA 0 0.65511811 0.65511811 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1.84E-08 1 1 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 22079761 G A YPEL1 CCDS13794.1 r.? - - intronic 18 0 0 28 5 17.9 16 4 25 56 17 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.316176471 1.316176471 1 0.974926254 0.974926254 1 0.957480315 0.957480315 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000279 1 0.00000108 1 6.22E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 23358698 C T - - - - - - 35 0 0 30 5 16.7 14 3 21.4 57 16 28.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 0.834536873 0.834536873 1 0.88503937 0.88503937 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000401 1 0.0000437 1 7.28E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 25740144 G T - - - - - - 32 0 0 26 4 15.4 26 5 19.2 70 19 27.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.132352941 1.132352941 1 0.748743363 0.748743363 1 0.853543307 0.853543307 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000856 1 0.000000188 1 9.5E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 28930394 G T TTC28 CCDS46678.1 r.? - - intronic 33 0 0 43 4 9.3 51 7 13.7 79 29 36.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.683823529 0.683823529 1 0.534259587 0.534259587 1 1.155905512 1.155905512 1 NA NA 1 NA NA 0 NA NA 1 6 NA 1 1 0.000066 1 7.46E-09 1 4.86E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 32725518 G A - - - - - - 25 0 0 27 7 25.9 16 1 6.2 44 13 29.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.904411765 1.904411765 1 0.241781711 NA 0 0.929133858 0.929133858 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 6.36E-11 1 0.077068876 1 5.49E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 33107697 C T Z73979.2 CCDS11576.1 r.? - - intronic 36 0 0 28 5 17.9 41 5 12.2 48 18 37.5 0 0 NA 2 2 100 0 0 NA 1 0 0 NA TRUE FALSE 1.316176471 1.316176471 1 0.475764012 0.475764012 1 1.181102362 1.181102362 1 7.352941176 7.352941176 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000279 0.000025 0.00000202 1 2.42E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 35146102 C T - - - - - - 35 0 0 37 4 10.8 26 7 26.9 70 24 34.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 1.049020649 1.049020649 1 1.080314961 1.080314961 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000362 1 4.73E-11 1 1.68E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 35296900 G A - - - - - - 28 0 0 39 8 20.5 41 4 9.8 68 21 30.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.507352941 1.507352941 1 0.382171091 0.382171091 1 0.973228346 0.973228346 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.09E-11 1 0.0000546 1 7.15E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 35603586 C T - - - - - - 27 0 0 26 4 15.4 40 7 17.5 78 24 30.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.132352941 1.132352941 1 0.682448378 0.682448378 1 0.97007874 0.97007874 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000856 1 1.26E-09 1 3.63E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 36455571 A C - - - - - - 33 0 0 36 5 13.9 36 8 22.2 65 16 24.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.022058824 1.022058824 1 0.865734513 0.865734513 1 0.77480315 0.77480315 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000104 1 1.04E-11 1 7.85E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 39164261 G A SUN2 CCDS13978.1 r.? - - intronic 33 0 0 31 5 16.1 5 0 0 47 15 31.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.183823529 1.183823529 1 0 NA 0 1.004724409 1.004724409 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.000000476 1 1 1 1.97E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 41312910 G A XPNPEP3 CCDS14007.1 r.? - - intronic 23 0 0 36 6 16.7 28 2 7.1 68 21 30.9 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 TRUE FALSE 1.227941176 1.227941176 1 0.276879056 0.276879056 1 0.973228346 0.973228346 1 NA NA 1 NA NA 0 0 0 1 9 NA 1 1 2.68E-08 1 0.008668191 1 7.15E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 41868550 C A ACO2 CCDS14017.1 r.? - - intronic 29 0 0 31 7 22.6 33 4 12.1 66 23 34.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.661764706 1.661764706 1 0.471864307 0.471864307 1 1.096062992 1.096062992 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.85E-10 1 0.0000228 1 3.38E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 11613214 C T - - - - - - 22 0 0 59 6 10.2 74 10 13.5 214 41 19.2 112 0 0 424 50 11.8 432 37 8.6 1.02E-22 557 72 12.9 TRUE TRUE 1.123092637 1.123092637 1 1.259574479 1.259574479 1 1.102953815 1.102953815 1 1.299264031 0.783741586 1.657770947 0.802395594 0.802395594 1 0.741047095 1.245572811 0.594944822 9 11 1 1 0.000000561 5.36E-51 5.24E-12 5.13E-33 3.41E-51 1.3E-75 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 22 42461416 G A NAGA CCDS14030.1 r.? - - intronic 32 0 0 27 4 14.8 38 4 10.5 70 24 34.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.088235294 1.088235294 1 0.409469027 0.409469027 1 1.080314961 1.080314961 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00001 1 0.0000403 1 1.68E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 41968055 G C CSDC2 CCDS14019.1 r.630g>c c.86G>C p.R29T missense 24 0 0 14 6 42.9 1 0 0 42 13 31 75 0 0 13 0 0 24 4 16.7 9.05E-05 32 6 18.8 FALSE TRUE 3.154411765 3.154411765 1 0 NA 0 0.976377953 0.976377953 1 0 0 1 0.651250737 0.651250737 1 0.592125984 0.592125984 1 NA 8 1 1 4.53E-11 1 1 0.00000613 2.72E-20 1.27E-08 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 44522582 C T PARVB CCDS14056.1 r.? - - intronic 31 0 0 35 6 17.1 42 2 4.8 75 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.257352941 1.257352941 1 0.187185841 0.187185841 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 8 NA 1 1 2.24E-08 1 0.018854633 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 45394786 C T PHF21B CCDS14061.1 r.? - - intronic 25 0 0 30 5 16.7 17 4 23.5 55 18 32.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 0.916430678 0.916430678 1 1.02992126 1.02992126 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000401 1 0.00000141 1 4.61E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 45736359 A G FAM118A CCDS14065.1 r.1981a>g c.? p.? 3'UTR variant 32 0 0 25 4 16 34 7 20.6 77 15 19.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.176470588 1.176470588 1 0.803339233 0.803339233 1 0.614173228 0.614173228 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000727 1 3.73E-10 1 8.05E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 12058556 G A - - - - - - 28 0 0 47 10 21.3 57 11 19.3 143 31 21.7 181 1 0.6 336 34 10.1 458 58 12.7 4.04E-44 574 103 17.9 TRUE TRUE 2.345281682 0.882424306 2.657770947 1.800724996 0.900362498 2 1.246567593 1.246567593 1 1.112081924 1.112081924 1 1.184933029 1.184933029 1 1.028274651 1.028274651 1 9 12 1 0.596375412 4.27E-14 6.33E-33 7.29E-15 1.01E-60 6.42E-41 8.24E-123 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 22 47784149 G T - - - - - - 27 0 0 37 5 13.5 18 5 27.8 76 13 17.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.992647059 0.992647059 1 1.084117994 1.084117994 1 0.538582677 0.538582677 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000119 1 2.54E-08 1 1.39E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 48539753 C A - - - - - - 26 0 0 33 4 12.1 15 3 20 71 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 0.779941003 0.779941003 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 7 NA 1 1 0.0000228 1 0.0000544 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 49373354 G A - - - - - - 35 0 0 35 4 11.4 15 2 13.3 61 22 36.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838235294 0.838235294 1 0.518660767 0.518660767 1 1.137007874 1.137007874 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000289 1 0.002513772 1 4.38E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 50713496 C A PLXNB2 CCDS43035.1 r.6295g>u c.? p.? 3'UTR variant 27 0 0 21 4 19 4 0 0 39 9 23.1 130 0 0 1 0 0 5 1 20 0.04900995 0 0 NA FALSE FALSE 1.397058824 1.397058824 1 0 NA 0 0.727559055 0.727559055 1 0 0 1 0.914680566 0.914680566 1 NA NA 1 NA NA 1 1 0.00000349 1 1 0.024751247 3.62E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 51210352 T A RABL2B CCDS33683.1 r.? - - intronic 32 0 0 34 6 17.6 26 2 7.7 68 27 39.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.294117647 1.294117647 1 0.352152018 0.352152018 1 1.250393701 1.250393701 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.86E-08 1 0.007502227 1 4.16E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 246104 C A CHL1 CCDS2556.1 r.? - - intronic 33 0 0 30 4 13.3 39 10 25.6 42 21 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.844941176 0.844941176 1 1.254324484 1.254324484 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000154 1 5.44E-15 1 2.32E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 1557871 A C - - - - - - 35 0 0 33 7 21.2 35 11 31.4 43 19 44.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.346823529 1.346823529 1 1.538507375 1.538507375 1 0.950125984 0.950125984 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.98E-10 1 1.82E-17 1 1.36E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 3398209 C T - - - - - - 23 0 0 32 6 18.8 35 6 17.1 32 13 40.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.194352941 1.194352941 1 0.837849558 0.837849558 1 0.872740157 0.872740157 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.27E-08 1 2.24E-08 1 3.88E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 5452064 G C - - - - - - 25 0 0 37 5 13.5 33 4 12.1 48 18 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.857647059 0.857647059 1 0.592864307 0.592864307 1 0.806102362 0.806102362 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000119 1 0.0000228 1 2.42E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 7949130 G C - - - - - - 38 0 0 31 7 22.6 33 9 27.3 56 26 46.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.435764706 1.435764706 1 1.337619469 1.337619469 1 0.997417323 0.997417323 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.85E-10 1 6.76E-14 1 8.57E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 9019208 C T SRGAP3 CCDS33689.1 r.? - - downstream 34 0 0 26 4 15.4 23 8 34.8 36 17 47.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.978352941 0.978352941 1 1.705097345 1.705097345 1 1.014614173 1.014614173 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000856 1 1.79E-13 1 6E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 9032690 C T SRGAP3 CCDS33689.1 r.? - - intronic 24 0 0 25 4 16 20 3 15 43 26 60.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.016470588 1.016470588 1 0.734955752 0.734955752 1 1.300511811 1.300511811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000727 1 0.0001337 1 5.78E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 9196778 G A SRGAP3 CCDS33689.1 r.? - - intronic 39 0 0 30 4 13.3 35 15 42.9 30 12 40 0 0 NA 0 0 NA 2 2 100 1.00E-04 0 0 NA TRUE FALSE 0.844941176 0.844941176 1 2.101973451 2.101973451 1 0.85984252 0.85984252 1 NA NA 1 4.899705015 4.899705015 1 NA NA 1 9 NA 1 1 0.0000154 1 9.02E-26 0.000025 1.94E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 22664525 G A - - - - - - 32 0 0 22 6 27.3 22 6 27.3 51 24 47.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.734352941 1.734352941 1 1.337619469 1.337619469 1 1.012464567 1.012464567 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.09E-09 1 1.09E-09 1 1.2E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 24493346 G A THRB CCDS2641.1 r.? - - intronic 41 0 0 34 8 23.5 32 4 12.5 62 25 40.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.492941176 1.492941176 1 0.612463127 0.612463127 1 0.866291339 0.866291339 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.32E-12 1 0.0000201 1 3.68E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 26495198 G A - - - - - - 35 0 0 22 5 22.7 13 3 23.1 39 16 41 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.442117647 1.442117647 1 1.131831858 1.131831858 1 0.881338583 0.881338583 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.67E-08 1 0.0000344 1 5.16E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 29008928 C A - - - - - - 39 0 0 35 9 25.7 32 10 31.2 38 15 39.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.632705882 1.632705882 1 1.528707965 1.528707965 1 0.849094488 0.849094488 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.23E-13 1 5.7E-16 1 4.24E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 33727519 A G CLASP2 ENST00000307312 r.? - - intronic 28 0 0 18 4 22.2 23 4 17.4 42 14 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.410352941 1.410352941 1 0.852548673 0.852548673 1 0.715818898 0.715818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000181 1 0.00000513 1 2.83E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 34059635 C G - - - - - - 14 0 0 21 4 19 17 4 23.5 27 13 48.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.207058824 1.207058824 1 1.151430678 1.151430678 1 1.03396063 1.03396063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000349 1 0.00000141 1 2.29E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 36645652 C T - - - - - - 37 0 0 26 7 26.9 44 7 15.9 50 23 46 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.708941176 1.708941176 1 0.779053097 0.779053097 1 0.988818898 0.988818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.73E-11 1 2.55E-09 1 1.13E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 37764675 T A ITGA9 CCDS2669.1 r.? - - intronic 26 0 0 23 8 34.8 29 8 27.6 48 21 43.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.210823529 2.210823529 1 1.352318584 1.352318584 1 0.941527559 0.941527559 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.79E-13 1 1.53E-12 1 9.35E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 39469763 A G - - - - - - 46 0 0 34 6 17.6 35 2 5.7 45 23 51.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.118117647 1.118117647 1 0.279283186 0.279283186 1 1.098448819 1.098448819 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.86E-08 1 0.013332991 1 4.42E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 42775542 C T CCDC13 CCDS2705.1 r.? - - intronic 35 0 0 27 5 18.5 4 1 25 39 15 38.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.175294118 1.175294118 1 1.224926254 1.224926254 1 0.827598425 0.827598425 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000023 1 0.019850499 1 6.85E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 47032187 G A NBEAL2 CCDS46817.1 r.? - - intronic 30 0 0 26 8 30.8 10 2 20 46 20 43.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.956705882 1.956705882 1 0.979941003 0.979941003 1 0.93507874 0.93507874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.63E-13 1 0.001095391 1 4.72E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 48503271 T C ATRIP CCDS2768.1 r.? - - intronic 25 0 0 38 9 23.7 15 5 33.3 55 25 45.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.505647059 1.505647059 1 1.63160177 1.63160177 1 0.978070866 0.978070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.79E-13 1 0.000000009 1 7.96E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 48941424 A T SLC25A20 CCDS2779.1 r.? - - upstream 19 0 0 22 3 13.6 16 0 0 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.864 0.864 1 0 0 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.000179267 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 50840680 A G DOCK3 CCDS46835.1 r.? - - intronic 16 0 0 19 5 26.3 14 5 35.7 36 11 30.6 0 0 NA 1 0 0 0 0 NA 1 0 0 NA TRUE FALSE 1.670823529 1.670823529 1 1.74919469 1.74919469 1 0.657779528 0.657779528 1 0 0 1 NA NA 1 NA NA 1 9 NA 1 1 3.43E-08 1 6.03E-09 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 52419134 C T DNAH1 CCDS46842.1 r.? - - intronic 26 0 0 25 8 32 1 0 0 18 7 38.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.032941176 2.032941176 1 0 0 1 0.83619685 0.83619685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.92E-13 1 1 1 2.37E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 56370296 C A ERC2 CCDS46851.1 r.? - - intronic 30 0 0 27 4 14.8 32 9 28.1 38 18 47.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.940235294 0.940235294 1 1.376817109 1.376817109 1 1.018913386 1.018913386 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00001 1 4.94E-14 1 1.16E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 58965390 G A C3orf67 CCDS33776.1 r.? - - intronic 28 0 0 29 7 24.1 24 0 0 56 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.531058824 1.531058824 1 0 0 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 1.11E-10 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 59355668 G A - - - - - - 39 0 0 27 6 22.2 36 9 25 42 20 47.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.410352941 1.410352941 1 1.224926254 1.224926254 1 1.023212598 1.023212598 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.23E-09 1 1.63E-13 1 4.41E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 64363107 A T - - - - - - 27 0 0 24 3 12.5 35 6 17.1 33 18 54.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 0.837849558 0.837849558 1 1.171535433 1.171535433 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000233853 1 2.24E-08 1 3.68E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 65602965 A T MAGI1 CCDS33781.1 r.? - - intronic 34 0 0 29 4 13.8 32 3 9.4 45 24 53.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.876705882 0.876705882 1 0.460572271 0.460572271 1 1.145740157 1.145740157 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000134 1 0.000556213 1 2.03E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 67447735 C T SUCLG2 CCDS43104.1 r.? - - intronic 16 0 0 21 4 19 15 0 0 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.207058824 1.207058824 1 0 0 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.00000349 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 68553486 G T FAM19A1 ENST00000478136 r.? - - intronic 32 1 3.1 25 6 24 30 9 30 52 24 46.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.524705882 1.524705882 1 1.469911504 1.469911504 1 0.99311811 0.99311811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 0.14819814 1 2.55E-09 1 2.54E-14 1 2.22E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 229950097 C A PID1 CCDS2471.1 r.? - - intronic 27 0 0 32 0 0 29 4 13.8 68 0 0 0 0 NA 2 0 0 4 0 0 1 2 0 0 TRUE TRUE 0 0 1 0.814159292 0.814159292 1 0 0 1 0 0 1 0 0 1 0 0 1 3 NA 1 1 1 1 0.0000134 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 78095865 C G - - - - - - 37 0 0 27 4 14.8 29 5 17.2 48 22 45.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.940235294 0.940235294 1 0.842749263 0.842749263 1 0.984519685 0.984519685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00001 1 0.000000336 1 5.76E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 79798430 A G ROBO1 ENST00000464233 r.? - - intronic 31 0 0 40 6 15 26 3 11.5 54 20 37 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.952941176 0.952941176 1 0.563466077 0.563466077 1 0.795354331 0.795354331 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.18E-08 1 0.000298167 1 2.61E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 79935339 T C - - - - - - 22 0 0 28 5 17.9 34 8 23.5 57 26 45.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.137176471 1.137176471 1 1.151430678 1.151430678 1 0.980220472 0.980220472 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000279 1 6.32E-12 1 1.57E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 81132873 A G - - - - - - 33 0 0 22 4 18.2 41 6 14.6 35 17 48.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.156235294 1.156235294 1 0.715356932 0.715356932 1 1.044708661 1.044708661 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000425 1 6.05E-08 1 3.18E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 82716062 T C - - - - - - 28 0 0 32 5 15.6 41 7 17.1 43 17 39.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.991058824 0.991058824 1 0.837849558 0.837849558 1 0.849094488 0.849094488 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 1.51E-09 1 2.84E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 82718088 G A - - - - - - 23 0 0 23 4 17.4 29 7 24.1 36 17 47.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.105411765 1.105411765 1 1.180828909 1.180828909 1 1.014614173 1.014614173 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000513 1 1.11E-10 1 6E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 82883800 A G - - - - - - 39 0 0 16 4 25 33 8 24.2 35 15 42.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.588235294 1.588235294 1 1.185728614 1.185728614 1 0.922181102 0.922181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000108 1 4.85E-12 1 9.02E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 83461445 C T - - - - - - 25 0 0 31 5 16.1 28 2 7.1 42 0 0 0 0 NA 0 0 NA 2 0 0 1 0 0 NA TRUE FALSE 1.022823529 1.022823529 1 0.347879056 0.347879056 1 0 0 1 NA NA 1 0 0 1 NA NA 1 7 NA 1 1 0.000000476 1 0.008668191 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 83935068 G A - - - - - - 27 0 0 33 5 15.2 40 4 10 35 12 34.3 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 0.965647059 0.965647059 1 0.489970501 0.489970501 1 0.737314961 0.737314961 1 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 0.00000066 1 0.0000495 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 85279976 G C CADM2 ENST00000383699 r.? - - intronic 38 0 0 36 6 16.7 27 5 18.5 34 16 47.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 0.906445428 0.906445428 1 1.012464567 1.012464567 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.68E-08 1 0.00000023 1 3.09E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 85886036 A T CADM2 CCDS33792.1 r.? - - intronic 26 0 0 33 3 9.1 35 6 17.1 34 14 41.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.578117647 0.578117647 1 0.837849558 0.837849558 1 0.885637795 0.885637795 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000609557 1 2.24E-08 1 7.74E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 87342482 A C - - - - - - 33 0 0 48 6 12.5 39 12 30.8 50 24 48 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 1.509109145 1.509109145 1 1.031811024 1.031811024 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000016 1 8.43E-19 1 6.39E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 88967948 T A - - - - - - 30 0 0 29 6 20.7 55 9 16.4 44 21 47.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.315058824 1.315058824 1 0.803551622 0.803551622 1 1.025362205 1.025362205 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.72E-09 1 1.01E-11 1 8.6E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 89883320 C T - - - - - - 27 0 0 34 6 17.6 26 3 11.5 34 19 55.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.118117647 1.118117647 1 0.563466077 0.563466077 1 1.201629921 1.201629921 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.86E-08 1 0.000298167 1 3.3E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 90314124 G A - - - - - - 41 0 0 28 4 14.3 35 4 11.4 58 18 31 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 0.672566372 0.672566372 1 0.976377953 0.976377953 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000116 1 0.0000289 1 1.42E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 93923845 G A - - - - - - 29 0 0 38 5 13.2 33 6 18.2 64 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.970588235 0.970588235 1 1.073746313 1.073746313 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.00000137 1 1.54E-08 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 94858739 C A - - - - - - 23 0 0 34 5 14.7 42 5 11.9 51 20 39.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.080882353 1.080882353 1 0.702064897 0.702064897 1 1.234645669 1.234645669 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000771 1 0.00000228 1 6.38E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 96571364 G A EPHA6 CCDS46876.1 r.? - - intronic 32 0 0 40 5 12.5 38 7 18.4 69 19 27.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 1.085545723 1.085545723 1 0.866141732 0.866141732 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000178 1 8.61E-10 1 6.95E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 97617695 G A CRYBG3 CCDS43113.1 r.? - - intronic 28 0 0 47 6 12.8 43 8 18.6 57 18 31.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.941176471 0.941176471 1 1.097345133 1.097345133 1 0.995275591 0.995275591 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000141 1 4.85E-11 1 9.84E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 98820013 T G - - - - - - 36 0 0 38 8 21.1 30 4 13.3 52 19 36.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.551470588 1.551470588 1 0.784660767 0.784660767 1 1.149606299 1.149606299 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.67E-11 1 0.0000154 1 1.24E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 98927643 C T - - - - - - 29 0 0 31 4 12.9 18 6 33.3 68 25 36.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.948529412 0.948529412 1 1.96460177 1.96460177 1 1.159055118 1.159055118 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000177 1 2.75E-10 1 6.41E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 100486993 C T ABI3BP CCDS46880.1 r.? - - intronic 19 0 0 36 9 25 17 5 29.4 38 13 34.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.838235294 1.838235294 1 1.734513274 1.734513274 1 1.077165354 1.077165354 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.63E-13 1 1.84E-08 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 100711187 C A ABI3BP CCDS46880.1 r.? - - intronic 34 0 0 27 4 14.8 35 3 8.6 61 15 24.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.088235294 1.088235294 1 0.507374631 0.507374631 1 0.77480315 0.77480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00001 1 0.000725791 1 1.73E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 101515268 C T FAM55C CCDS2945.1 r.? - - intronic 33 0 0 36 6 16.7 45 4 8.9 77 29 37.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 0.525073746 0.525073746 1 1.187401575 1.187401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.68E-08 1 0.0000791 1 1.95E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 103840954 A G - - - - - - 42 0 0 23 4 17.4 40 4 10 69 22 31.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.279411765 1.279411765 1 0.589970501 0.589970501 1 1.004724409 1.004724409 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000513 1 0.0000495 1 1.12E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 105285607 C A ALCAM CCDS33810.1 r.? - - intronic 35 0 0 33 6 18.2 36 2 5.6 56 21 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.338235294 1.338235294 1 0.330383481 0.330383481 1 1.181102362 1.181102362 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.54E-08 1 0.014070883 1 5.43E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 105373281 C T CBLB CCDS2948.1 r.? - - downstream 31 0 0 23 6 26.1 36 7 19.4 49 17 34.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.919117647 1.919117647 1 1.144542773 1.144542773 1 1.092913386 1.092913386 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.47E-09 1 5.74E-10 1 4.26E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 106246972 C A - - - - - - 32 0 0 36 4 11.1 37 2 5.4 65 20 30.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.318584071 0.318584071 1 0.97007874 0.97007874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000324 1 0.014826063 1 2.18E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 106824513 G A - - - - - - 28 0 0 28 5 17.9 22 2 9.1 66 18 27.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.316176471 1.316176471 1 0.536873156 0.536873156 1 0.85984252 0.85984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000279 1 0.005403392 1 2.08E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 107272686 C G BBX CCDS2950.1 r.? - - intronic 31 0 0 35 4 11.4 36 2 5.6 65 17 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838235294 0.838235294 1 0.330383481 0.330383481 1 0.82519685 0.82519685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000289 1 0.014070883 1 1.14E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 107765678 G A CD47 CCDS46882.1 r.1576c>u c.? p.? 3'UTR variant 33 0 0 35 5 14.3 39 6 15.4 89 34 38.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 0.908554572 0.908554572 1 1.203149606 1.203149606 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000895 1 4.43E-08 1 1.96E-54 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 108459763 T G - - - - - - 28 0 0 40 12 30 40 2 5 54 16 29.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.205882353 2.205882353 1 0.294985251 0.294985251 1 0.932283465 0.932283465 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.2E-18 1 0.017193422 1 2.69E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 109539935 G A - - - - - - 37 0 0 25 8 32 53 11 20.8 59 21 35.6 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 2.352941176 2.352941176 1 1.227138643 1.227138643 1 1.121259843 1.121259843 1 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 3.92E-13 1 3.07E-15 1 2.06E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 110076150 C T - - - - - - 36 0 0 38 6 15.8 38 3 7.9 60 17 28.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.161764706 1.161764706 1 0.466076696 0.466076696 1 0.891338583 0.891338583 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.76E-08 1 0.000925091 1 2.41E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 110142579 G A - - - - - - 32 0 0 33 4 12.1 36 6 16.7 58 19 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 0.985250737 0.985250737 1 1.033070866 1.033070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 2.68E-08 1 1.5E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 110369522 A T - - - - - - 34 0 0 29 4 13.8 38 5 13.2 52 10 19.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.014705882 1.014705882 1 0.778761062 0.778761062 1 0.604724409 0.604724409 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000134 1 0.00000137 1 1.28E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 110423972 C T - - - - - - 35 0 0 40 6 15 42 15 35.7 64 12 18.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.102941176 1.102941176 1 2.10619469 2.10619469 1 0.592125984 0.592125984 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.18E-08 1 2.65E-24 1 6.3E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 110709757 A T - - - - - - 20 0 0 26 4 15.4 41 4 9.8 60 23 38.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.132352941 1.132352941 1 0.578171091 0.578171091 1 1.206299213 1.206299213 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000856 1 0.0000546 1 2.33E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 112209267 C T BTLA CCDS33819.1 r.? - - intronic 42 0 0 39 6 15.4 40 6 15 65 18 27.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.132352941 1.132352941 1 0.884955752 0.884955752 1 0.872440945 0.872440945 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.43E-08 1 5.18E-08 1 1.52E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 113371966 G C KIAA2018 CCDS43133.1 r.8974c>g c.? p.? 3'UTR variant 19 0 0 34 5 14.7 35 11 31.4 60 16 26.7 0 0 NA 2 0 0 0 0 NA 1 0 0 NA TRUE FALSE 1.080882353 1.080882353 1 1.852507375 1.852507375 1 0.840944882 0.840944882 1 0 0 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000771 1 1.82E-17 1 1.86E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 115176492 G A - - - - - - 32 0 0 42 6 14.3 39 7 17.9 57 18 31.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 1.056047198 1.056047198 1 0.995275591 0.995275591 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.02E-08 1 1.04E-09 1 9.84E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 116429501 C T LSAMP ENST00000474851 r.? - - intronic 27 0 0 28 5 17.9 35 9 25.7 69 23 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.316176471 1.316176471 1 1.516224189 1.516224189 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000279 1 1.23E-13 1 1.15E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 116539911 T A LSAMP ENST00000474851 r.? - - intronic 32 0 0 33 5 15.2 44 7 15.9 58 16 27.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.117647059 1.117647059 1 0.938053097 0.938053097 1 0.869291339 0.869291339 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 2.55E-09 1 1E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 118119867 C T - - - - - - 38 0 0 33 5 15.2 44 12 27.3 51 19 37.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.117647059 1.117647059 1 1.610619469 1.610619469 1 1.17480315 1.17480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 4.44E-18 1 7.94E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 118530923 T G - - - - - - 24 0 0 35 5 14.3 41 9 22 64 17 26.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 1.297935103 1.297935103 1 0.837795276 0.837795276 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000895 1 5.92E-13 1 8.43E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 120887766 A G STXBP5L CCDS43137.1 r.? - - intronic 34 0 0 36 4 11.1 32 5 15.6 54 17 31.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.920353982 0.920353982 1 0.992125984 0.992125984 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000324 1 0.000000562 1 3.02E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 121347653 C T FBXO40 CCDS33835.1 r.4440c>u c.? p.? 3'UTR variant 33 0 0 53 5 9.4 38 0 0 66 19 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.691176471 0.691176471 1 0 0 1 0.907086614 0.907086614 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.00000734 1 1 1 2.64E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 121566660 A T EAF2 CCDS3006.1 r.? - - intronic 21 0 0 29 5 17.2 33 1 3 66 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.264705882 1.264705882 1 0.17699115 0.17699115 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.000000336 1 0.15245715 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 122658403 G A SEMA5B CCDS35491.1 r.? - - intronic 35 0 0 29 5 17.2 27 5 18.5 70 16 22.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.264705882 1.264705882 1 1.091445428 1.091445428 1 0.721259843 0.721259843 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000336 1 0.00000023 1 2.93E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 128309533 C G - - - - - - 41 0 0 35 4 11.4 34 6 17.6 66 14 21.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838235294 0.838235294 1 1.038348083 1.038348083 1 0.667716535 0.667716535 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000289 1 1.86E-08 1 3.71E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 130045614 G A - - - - - - 27 0 0 34 5 14.7 32 4 12.5 35 11 31.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.080882353 1.080882353 1 0.737463127 0.737463127 1 0.988976378 0.988976378 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000771 1 0.0000201 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 130519850 A T - - - - - - 28 0 0 39 9 23.1 34 8 23.5 76 15 19.7 0 0 NA 0 0 NA 0 0 NA 1 1 1 100 TRUE FALSE 1.698529412 1.698529412 1 1.386430678 1.386430678 1 0.620472441 0.620472441 1 NA NA 1 NA NA 1 3.149606299 3.149606299 1 9 NA 1 1 3.62E-13 1 6.32E-12 1 6.51E-20 0.005 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 131116556 G A - - - - - - 27 0 0 35 5 14.3 39 7 17.9 63 24 38.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 1.056047198 1.056047198 1 1.2 1.2 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000895 1 1.04E-09 1 7.74E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 131482981 C T CPNE4 CCDS3072.1 r.? - - intronic 29 0 0 36 4 11.1 32 2 6.2 66 22 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.365781711 0.365781711 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000324 1 0.011224977 1 3.52E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 133003721 C G TMEM108 CCDS33858.1 r.? - - intronic 30 0 0 35 9 25.7 48 11 22.9 73 26 35.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.889705882 1.889705882 1 1.351032448 1.351032448 1 1.121259843 1.121259843 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.23E-13 1 9.31E-16 1 5.09E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 133066215 C G TMEM108 CCDS33858.1 r.? - - intronic 36 0 0 38 7 18.4 53 13 24.5 75 24 32 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.352941176 1.352941176 1 1.445427729 1.445427729 1 1.007874016 1.007874016 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.61E-10 1 8.53E-19 1 1.2E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 133066230 C T TMEM108 CCDS33858.1 r.? - - intronic 37 0 0 35 7 20 55 13 23.6 76 26 34.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 1.392330383 1.392330383 1 1.077165354 1.077165354 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.65E-10 1 1.46E-18 1 1.8E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 133080621 G C TMEM108 CCDS33858.1 r.? - - intronic 36 0 0 37 5 13.5 37 6 16.2 83 21 25.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.992647059 0.992647059 1 0.955752212 0.955752212 1 0.796850394 0.796850394 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000119 1 3.18E-08 1 8.7E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 135232125 A C - - - - - - 36 0 0 35 6 17.1 37 3 8.1 66 24 36.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.257352941 1.257352941 1 0.477876106 0.477876106 1 1.146456693 1.146456693 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-08 1 0.000855237 1 3.04E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 135442780 A T - - - - - - 37 0 0 36 3 8.3 40 0 0 69 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.610294118 0.610294118 1 0 0 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.000788827 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 137710075 G T - - - - - - 37 0 0 38 6 15.8 39 10 25.6 69 25 36.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.161764706 1.161764706 1 1.510324484 1.510324484 1 1.14015748 1.14015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.76E-08 1 5.44E-15 1 1E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 137749108 A G CLDN18 CCDS3095.1 r.? - - intronic 19 0 0 42 6 14.3 40 8 20 49 17 34.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 1.179941003 1.179941003 1 1.092913386 1.092913386 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.02E-08 1 2.61E-11 1 4.26E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 137992880 G A TXNDC6 CCDS3099.1 r.? - - intronic 34 0 0 33 8 24.2 22 4 18.2 62 21 33.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.779411765 1.779411765 1 1.073746313 1.073746313 1 1.067716535 1.067716535 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.85E-12 1 0.00000425 1 7.22E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 138928906 T A MRPS22 CCDS3107.1 r.? - - intronic 29 0 0 25 4 16 37 3 8.1 61 23 37.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.176470588 1.176470588 1 0.477876106 0.477876106 1 1.187401575 1.187401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000727 1 0.000855237 1 3.73E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 138932990 C T MRPS22 CCDS3107.1 r.? - - intronic 41 0 0 32 5 15.6 31 8 25.8 82 27 32.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.147058824 1.147058824 1 1.522123894 1.522123894 1 1.036220472 1.036220472 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 2.78E-12 1 1.96E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 142242465 G T ATR CCDS3124.1 r.? - - intronic 34 0 0 35 5 14.3 40 6 15 79 23 29.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 0.884955752 0.884955752 1 0.916535433 0.916535433 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000895 1 5.18E-08 1 4.43E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 145727181 T A - - - - - - 37 0 0 42 10 23.8 38 5 13.2 78 29 37.2 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.75 1.75 1 0.778761062 0.778761062 1 1.171653543 1.171653543 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.24E-14 1 0.00000137 1 3.09E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 146536763 C T - - - - - - 29 0 0 33 4 12.1 44 10 22.7 56 18 32.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 1.339233038 1.339233038 1 1.011023622 1.011023622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 2.08E-14 1 6.76E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 147409085 G A - - - - - - 37 0 0 47 6 12.8 27 5 18.5 72 17 23.6 0 0 NA 0 0 NA 2 0 0 1 0 0 NA TRUE FALSE 0.941176471 0.941176471 1 1.091445428 1.091445428 1 0.743307087 0.743307087 1 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 0.000000141 1 0.00000023 1 7.97E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 147775468 T A - - - - - - 23 0 0 30 6 20 39 7 17.9 57 15 26.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 1.056047198 1.056047198 1 0.828346457 0.828346457 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.37E-09 1 1.04E-09 1 5.53E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 148038110 G A - - - - - - 31 0 0 31 4 12.9 53 16 30.2 58 15 25.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.948529412 0.948529412 1 1.781710914 1.781710914 1 0.815748031 0.815748031 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000177 1 1.9E-24 1 7.42E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 151389599 G A - - - - - - 28 0 0 32 5 15.6 42 10 23.8 71 23 32.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.147058824 1.147058824 1 1.404129794 1.404129794 1 1.020472441 1.020472441 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 1.24E-14 1 2.51E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 151396966 C T - - - - - - 26 0 0 25 5 20 35 8 22.9 62 24 38.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 1.351032448 1.351032448 1 1.218897638 1.218897638 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000153 1 8.15E-12 1 4.81E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 152366827 A G - - - - - - 25 0 0 38 7 18.4 38 5 13.2 76 24 31.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.352941176 1.352941176 1 0.778761062 0.778761062 1 0.995275591 0.995275591 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.61E-10 1 0.00000137 1 1.75E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 154782949 C G MME CCDS3172.1 r.? - - intronic 26 0 0 40 6 15 38 3 7.9 61 20 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.102941176 1.102941176 1 0.466076696 0.466076696 1 1.033070866 1.033070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.18E-08 1 0.000925091 1 4.89E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 157488519 A C - - - - - - 28 0 0 35 6 17.1 37 9 24.3 77 27 35.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.257352941 1.257352941 1 1.433628319 1.433628319 1 1.105511811 1.105511811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-08 1 2.14E-13 1 2.57E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 158846670 C A IQCJ CCDS46947.1 r.? - - intronic 31 0 0 36 5 13.9 50 10 20 55 13 23.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.022058824 1.022058824 1 1.179941003 1.179941003 1 0.743307087 0.743307087 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000104 1 8.36E-14 1 1.46E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 158973574 A C IQCJ CCDS46947.1 r.? - - intronic 35 0 0 43 6 14 30 6 20 75 27 36 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.029411765 1.029411765 1 1.179941003 1.179941003 1 1.133858268 1.133858268 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.13E-08 1 8.37E-09 1 1.08E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 159185927 G A SCHIP1 CCDS3186.1 r.? - - intronic 26 0 0 29 4 13.8 44 8 18.2 58 21 36.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.014705882 1.014705882 1 1.073746313 1.073746313 1 1.14015748 1.14015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000134 1 5.9E-11 1 1.34E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 161736691 C T - - - - - - 26 0 0 38 8 21.1 38 7 18.4 72 21 29.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.551470588 1.551470588 1 1.085545723 1.085545723 1 0.919685039 0.919685039 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.67E-11 1 8.61E-10 1 2.89E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 161996051 T G - - - - - - 45 0 0 38 4 10.5 34 6 17.6 71 23 32.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.772058824 0.772058824 1 1.038348083 1.038348083 1 1.020472441 1.020472441 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000403 1 1.86E-08 1 2.51E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 163142464 C T - - - - - - 31 0 0 36 7 19.4 48 10 20.8 53 19 35.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.426470588 1.426470588 1 1.227138643 1.227138643 1 1.127559055 1.127559055 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.74E-10 1 5.37E-14 1 1.93E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 163636805 T C - - - - - - 32 0 0 34 4 11.8 32 6 18.8 64 23 35.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.867647059 0.867647059 1 1.109144543 1.109144543 1 1.130708661 1.130708661 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 1.27E-08 1 1.44E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 164364276 C T - - - - - - 34 0 0 30 5 16.7 34 3 8.8 55 14 25.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 0.519174041 0.519174041 1 0.803149606 0.803149606 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 0.000666058 1 2.19E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 164826757 G T - - - - - - 26 0 0 33 4 12.1 35 8 22.9 55 16 29.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 1.351032448 1.351032448 1 0.916535433 0.916535433 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 8.15E-12 1 3.78E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 165906023 G A - - - - - - 36 0 0 23 9 39.1 43 10 23.3 73 28 38.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.875 2.875 1 1.374631268 1.374631268 1 1.209448819 1.209448819 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.5E-15 1 1.61E-14 1 3.67E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 166318960 C G - - - - - - 37 0 0 40 9 22.5 53 6 11.3 80 18 22.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.879411765 0.939705882 2 0.779666667 0.779666667 1 0.933661417 0.933661417 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.64E-13 1 0.000000293 1 1.01E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 166854960 G T - - - - - - 23 0 0 40 5 12.5 46 11 23.9 82 21 25.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.044117647 1.044117647 1 1.649029499 1.649029499 1 1.062299213 1.062299213 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000178 1 5.55E-16 1 6.53E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 166916380 G T - - - - - - 36 0 0 34 4 11.8 44 7 15.9 73 15 20.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.985647059 0.985647059 1 1.097053097 1.097053097 1 0.850669291 0.850669291 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 2.55E-09 1 3.38E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 172269856 C T - - - - - - 30 0 0 37 8 21.6 26 4 15.4 99 30 30.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.804235294 1.804235294 1 1.062554572 1.062554572 1 1.257330709 1.257330709 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.33E-11 1 0.00000856 1 1.37E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 172461086 A G - - - - - - 34 0 0 55 7 12.7 46 6 13 103 30 29.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060823529 1.060823529 1 0.896961652 0.896961652 1 1.207535433 1.207535433 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.28E-08 1 0.000000123 1 5.46E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 173172892 C A NLGN1 CCDS3222.1 r.? - - intronic 37 0 0 49 12 24.5 55 12 21.8 104 56 53.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.046470588 1.023235294 2 1.504135693 1.504135693 1 2.232488189 1.116244094 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.9E-17 1 8.78E-17 1 1.28E-99 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 174870546 A G NAALADL2 CCDS46960.1 r.? - - intronic 18 0 0 26 7 26.9 30 7 23.3 94 16 17 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.246941176 1.123470588 2 1.607631268 1.607631268 1 0.705433071 0.705433071 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.73E-11 1 1.44E-10 1 4.85E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 174952496 G A NAALADL2 CCDS46960.1 r.? - - intronic 40 0 0 34 5 14.7 39 4 10.3 81 18 22.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227882353 1.227882353 1 0.710669617 0.710669617 1 0.921212598 0.921212598 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000771 1 0.0000447 1 1.29E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 175348930 A G NAALADL2 CCDS46960.1 r.? - - intronic 43 0 0 31 9 29 43 11 25.6 79 48 60.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.422352941 1.211176471 2 1.766324484 0.883162242 2 2.52296063 1.261480315 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.57E-14 1 2.42E-16 1 2.67E-89 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 176558481 T C - - - - - - 24 0 0 45 7 15.6 39 3 7.7 93 23 24.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.303058824 1.303058824 1 0.531277286 0.531277286 1 1.024952756 1.024952756 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000003 1 0.000998458 1 3.18E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 178594528 G T - - - - - - 32 0 0 41 7 17.1 57 9 15.8 68 21 30.9 0 0 NA 2 0 0 0 0 NA 1 0 0 NA TRUE FALSE 1.428352941 1.428352941 1 1.090153392 1.090153392 1 1.282228346 1.282228346 1 0 0 1 NA NA 1 NA NA 1 9 NA 1 1 1.51E-09 1 1.42E-11 1 7.15E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 179948195 C G - - - - - - 24 0 0 38 4 10.5 44 8 18.2 77 33 42.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.877058824 0.877058824 1 1.255746313 1.255746313 1 1.780181102 0.890090551 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000403 1 5.9E-11 1 5.91E-55 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 181208388 G C - - - - - - 33 0 0 39 5 12.8 40 2 5 90 23 25.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.069176471 1.069176471 1 0.344985251 0.344985251 1 1.062299213 1.062299213 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000156 1 0.017193422 1 1.36E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 181511975 G T - - - - - - 26 0 0 39 9 23.1 41 3 7.3 86 18 20.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.929529412 0.964764706 2 0.503678466 0.503678466 1 0.867267717 0.867267717 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.62E-13 1 0.001155993 1 4.22E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 184516540 T A - - - - - - 22 0 0 38 6 15.8 49 9 18.4 92 22 23.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.319764706 1.319764706 1 1.269545723 1.269545723 1 0.991755906 0.991755906 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.76E-08 1 3.35E-12 1 1.57E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 185201646 G A MAP3K13 CCDS3270.1 r.4637g>a c.? p.? 3'UTR variant 24 0 0 24 6 25 25 5 20 84 35 41.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.088235294 1.044117647 2 1.379941003 1.379941003 1 1.730385827 0.865192913 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.95E-09 1 0.000000153 1 1.21E-57 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 3143610 G A IL5RA CCDS2559.1 r.? - - intronic 45 0 0 35 5 14.3 36 9 25 35 16 45.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 1.224926254 1.224926254 1 0.982370079 0.982370079 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000895 1 1.63E-13 1 5.66E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 185760226 A G ETV5 CCDS33906.1 r.? - - downstream 28 0 0 36 5 13.9 49 5 10.2 93 20 21.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.161058824 1.161058824 1 0.703769912 0.703769912 1 0.892165354 0.892165354 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000104 1 0.00000496 1 7.16E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 186620864 C G - - - - - - 24 0 0 53 7 13.2 40 6 15 81 21 25.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.102588235 1.102588235 1 1.034955752 1.034955752 1 1.074748031 1.074748031 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.85E-09 1 5.18E-08 1 4.88E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 187677973 G A - - - - - - 46 0 0 41 10 24.4 44 18 40.9 104 58 55.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.038117647 1.019058824 2 2.821979351 1.410989676 2 2.315480315 1.157740157 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.51E-15 1 3.47E-30 1 2.2E-104 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 187748344 A C - - - - - - 17 0 0 28 3 10.7 24 3 12.5 80 20 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.893764706 0.893764706 1 0.862463127 0.862463127 1 1.037401575 1.037401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000372895 1 0.000233853 1 2.53E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 189251842 C T - - - - - - 35 0 0 37 11 29.7 30 13 43.3 73 36 49.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.480823529 1.240411765 2 2.987572271 1.493786136 2 2.045755906 1.022877953 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.7E-17 1 1.35E-22 1 1.06E-62 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 189908646 G A - - - - - - 38 0 0 34 5 14.7 55 17 30.9 99 53 53.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227882353 1.227882353 1 2.13200885 1.066004425 2 2.22003937 1.110019685 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000771 1 4.35E-26 1 3.51E-94 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 191626424 A T - - - - - - 40 0 0 29 3 10.3 39 7 17.9 76 19 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.860352941 0.860352941 1 1.235047198 1.235047198 1 1.037401575 1.037401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000414371 1 1.04E-09 1 5.56E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 192044716 G A FGF12 CCDS3301.1 r.? - - intronic 30 0 0 34 9 26.5 45 11 24.4 84 46 54.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.213529412 1.106764706 2 1.683528024 0.841764012 2 2.273984252 1.136992126 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.15E-14 1 4.24E-16 1 1.36E-82 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 192329341 G A FGF12 CCDS46983.1 r.? - - intronic 27 0 0 50 10 20 46 7 15.2 84 17 20.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.670588235 1.670588235 1 1.048755162 1.048755162 1 0.838220472 0.838220472 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.36E-14 1 3.53E-09 1 1.42E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 192809942 T C - - - - - - 31 0 0 44 5 11.4 54 10 18.5 86 22 25.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.952235294 0.952235294 1 1.276445428 1.276445428 1 1.062299213 1.062299213 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000288 1 1.91E-13 1 2.98E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 396092 C G ENSG00000186777 ENST00000414523 r.? - - intronic 30 0 0 33 8 24.2 17 9 52.9 46 16 34.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.537411765 1.537411765 1 2.591943953 2.591943953 1 0.748062992 0.748062992 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.85E-12 1 4.58E-17 1 1.31E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 1835923 C G LETM1 CCDS3355.1 r.? - - intronic 32 0 0 43 7 16.3 7 2 28.6 37 20 54.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.035529412 1.035529412 1 1.401315634 1.401315634 1 1.162937008 1.162937008 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.15E-09 1 0.000516315 1 1.4E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 5162609 T A STK32B CCDS3380.1 r.? - - intronic 27 0 0 29 4 13.8 12 2 16.7 45 21 46.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.876705882 0.876705882 1 0.818250737 0.818250737 1 1.003866142 1.003866142 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000134 1 0.001595918 1 1.6E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 6191359 A T JAKMIP1 CCDS47005.1 r.? - - intronic 33 0 0 41 8 19.5 25 5 20 44 20 45.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.238823529 1.238823529 1 0.979941003 0.979941003 1 0.978070866 0.978070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.22E-11 1 0.000000153 1 1.5E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 9474635 C T - - - - - - 14 0 0 22 8 36.4 28 6 21.4 35 7 20 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.312470588 2.312470588 1 1.048536873 1.048536873 1 0.42992126 0.42992126 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.17E-13 1 5.36E-09 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 10891536 T G - - - - - - 23 0 0 29 7 24.1 30 8 26.7 45 32 71.1 0 0 NA 0 0 NA 2 0 0 1 0 0 NA TRUE FALSE 1.531058824 1.531058824 1 1.308221239 1.308221239 1 1.528370079 1.528370079 1 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 1.11E-10 1 2.07E-12 1 1.6E-63 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 12566955 G A - - - - - - 28 0 0 25 4 16 33 6 18.2 37 12 32.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.016470588 1.016470588 1 0.891746313 0.891746313 1 0.696472441 0.696472441 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000727 1 1.54E-08 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 18294853 G A - - - - - - 29 0 0 24 8 33.3 26 3 11.5 40 17 42.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.115529412 2.115529412 1 0.563466077 0.563466077 1 0.913582677 0.913582677 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.68E-13 1 0.000298167 1 6.07E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 24317394 C A - - - - - - 26 0 0 27 3 11.1 28 6 21.4 45 23 51.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.705176471 0.705176471 1 1.048536873 1.048536873 1 1.098448819 1.098448819 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000334187 1 5.36E-09 1 4.42E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 25429921 G A - - - - - - 25 0 0 28 4 14.3 12 4 33.3 32 16 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 1.63160177 1.63160177 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000116 1 0.0000003 1 8.51E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 29261465 T A - - - - - - 37 0 0 25 5 20 24 2 8.3 40 18 45 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.270588235 1.270588235 1 0.406675516 0.406675516 1 0.967322835 0.967322835 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000153 1 0.006413403 1 3.9E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 29617803 C A - - - - - - 28 0 0 25 4 16 14 1 7.1 40 20 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.016470588 1.016470588 1 0.347879056 0.347879056 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000727 1 0.067769881 1 1.19E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 31293452 G T - - - - - - 31 0 0 28 4 14.3 38 4 10.5 34 16 47.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 0.514469027 0.514469027 1 1.012464567 1.012464567 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000116 1 0.0000403 1 3.09E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 33856111 T G - - - - - - 34 0 0 31 6 19.4 25 3 12 36 9 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.232470588 1.232470588 1 0.587964602 0.587964602 1 0.537401575 0.537401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.03E-08 1 0.00026475 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 34151289 A G - - - - - - 29 0 0 29 6 20.7 40 11 27.5 41 20 48.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.315058824 1.315058824 1 1.347418879 1.347418879 1 1.049007874 1.049007874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.72E-09 1 9.88E-17 1 2.32E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 34668579 G T - - - - - - 35 0 0 34 5 14.7 40 6 15 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.933882353 0.933882353 1 0.734955752 0.734955752 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.000000771 1 5.18E-08 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 35629859 G A - - - - - - 20 0 0 23 5 21.7 34 10 29.4 31 17 54.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.378588235 1.378588235 1 1.440513274 1.440513274 1 1.177984252 1.177984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.75E-08 1 1.15E-15 1 1.89E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 36694698 G A - - - - - - 44 0 0 35 6 17.1 24 5 20.8 44 19 43.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.086352941 1.086352941 1 1.019138643 1.019138643 1 0.928629921 0.928629921 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-08 1 0.000000123 1 2.39E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 40173675 C T - - - - - - 41 0 0 26 5 19.2 26 4 15.4 51 21 41.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.219764706 1.219764706 1 0.754554572 0.754554572 1 0.885637795 0.885637795 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000188 1 0.00000856 1 4.73E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 41295131 C T - - - - - - 28 0 0 28 5 17.9 35 4 11.4 48 23 47.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.137176471 1.137176471 1 0.558566372 0.558566372 1 1.029661417 1.029661417 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000279 1 0.0000289 1 3.27E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 41428333 C T LIMCH1 CCDS33977.1 r.? - - intronic 18 0 0 20 4 20 12 3 25 22 11 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.270588235 1.270588235 1 1.224926254 1.224926254 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000284 1 0.0000266 1 3.27E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 41787934 T C - - - - - - 40 0 0 31 8 25.8 32 5 15.6 45 17 37.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.639058824 1.639058824 1 0.764353982 0.764353982 1 0.812551181 0.812551181 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.78E-12 1 0.000000562 1 7.37E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 44154575 A T - - - - - - 40 0 0 31 6 19.4 47 10 21.3 35 18 51.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.232470588 1.232470588 1 1.043637168 1.043637168 1 1.104897638 1.104897638 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.03E-08 1 4.27E-14 1 1.6E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 45791177 C A - - - - - - 24 0 0 26 4 15.4 33 4 12.1 40 16 40 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.978352941 0.978352941 1 0.592864307 0.592864307 1 0.85984252 0.85984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000856 1 0.0000228 1 8.56E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 54940175 A C FIP1L1 ENST00000507166 r.? - - intronic 31 0 0 26 5 19.2 19 1 5.3 33 12 36.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.219764706 1.219764706 1 0.259684366 0.259684366 1 0.782456693 0.782456693 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000188 1 0.090843738 1 7.86E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 56367491 A T CLOCK CCDS3500.1 r.? - - intronic 35 0 0 24 4 16.7 20 3 15 55 30 54.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 0.734955752 0.734955752 1 1.171535433 1.171535433 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000613 1 0.0001337 1 2.55E-54 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 58512309 C T - - - - - - 29 0 0 28 4 14.3 29 8 27.6 46 17 37 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 1.352318584 1.352318584 1 0.795354331 0.795354331 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000116 1 1.53E-12 1 1.16E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 58933848 C G - - - - - - 36 0 0 20 3 15 32 7 21.9 44 22 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.952941176 0.952941176 1 1.073035398 1.073035398 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0001337 1 2.36E-10 1 4.51E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 59801472 G A - - - - - - 35 0 0 25 4 16 33 5 15.2 48 24 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.016470588 1.016470588 1 0.744755162 0.744755162 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000727 1 0.00000066 1 1.71E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 63493486 C G - - - - - - 31 0 0 33 7 21.2 24 2 8.3 59 21 35.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.558823529 1.558823529 1 0.489675516 0.489675516 1 1.121259843 1.121259843 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.98E-10 1 0.006413403 1 2.06E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 63890981 C A - - - - - - 17 0 0 34 5 14.7 32 7 21.9 60 15 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.080882353 1.080882353 1 1.292035398 1.292035398 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000771 1 2.36E-10 1 1.31E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 63902025 C G - - - - - - 30 0 0 30 5 16.7 43 8 18.6 58 19 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 1.097345133 1.097345133 1 1.033070866 1.033070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 4.85E-11 1 1.5E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 65133444 C T - - - - - - 34 0 0 29 7 24.1 33 2 6.1 71 22 31 0 0 NA 0 0 NA 0 0 NA 1 2 2 100 TRUE FALSE 1.772058824 1.772058824 1 0.359882006 0.359882006 1 0.976377953 0.976377953 1 NA NA 1 NA NA 1 3.149606299 3.149606299 1 9 NA 1 1 1.11E-10 1 0.011909843 1 2.34E-33 0.000025 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 65295416 G A - - - - - - 29 0 0 34 6 17.6 38 8 21.1 64 23 35.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.294117647 1.294117647 1 1.244837758 1.244837758 1 1.130708661 1.130708661 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.86E-08 1 1.67E-11 1 1.44E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 65297045 G T - - - - - - 38 0 0 29 7 24.1 21 4 19 52 21 40.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.772058824 1.772058824 1 1.120943953 1.120943953 1 1.272440945 1.272440945 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.11E-10 1 0.00000349 1 7.89E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 65374302 G T - - - - - - 41 0 0 36 6 16.7 30 5 16.7 64 16 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 0.985250737 0.985250737 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.68E-08 1 0.000000401 1 5.94E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 65950166 C T - - - - - - 28 0 0 29 4 13.8 49 13 26.5 59 18 30.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.014705882 1.014705882 1 1.563421829 1.563421829 1 0.960629921 0.960629921 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000134 1 2.71E-19 1 2.03E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 66024158 A T - - - - - - 33 0 0 36 4 11.1 35 1 2.9 59 15 25.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.171091445 0.171091445 1 0.8 0.8 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.0000324 1 0.16091139 1 9.9E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 66672934 T A - - - - - - 25 0 0 32 5 15.6 45 13 28.9 66 22 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.147058824 1.147058824 1 1.705014749 1.705014749 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 7.68E-20 1 3.52E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 67058630 T C - - - - - - 31 0 0 35 9 25.7 22 3 13.6 53 19 35.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.889705882 1.889705882 1 0.802359882 0.802359882 1 1.127559055 1.127559055 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.23E-13 1 0.000179267 1 1.93E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 67304626 G A - - - - - - 35 0 0 30 4 13.3 51 9 17.6 56 25 44.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.977941176 0.977941176 1 1.038348083 1.038348083 1 1.404724409 1.404724409 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000154 1 4.92E-12 1 1.43E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 68149989 C A - - - - - - 32 0 0 33 6 18.2 29 8 27.6 68 27 39.7 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 TRUE FALSE 1.338235294 1.338235294 1 1.628318584 1.628318584 1 1.250393701 1.250393701 1 NA NA 1 NA NA 1 0 0 1 9 NA 1 1 1.54E-08 1 1.53E-12 1 4.16E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 69616714 G T - - - - - - 29 0 0 37 7 18.9 36 7 19.4 55 20 36.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.389705882 1.389705882 1 1.144542773 1.144542773 1 1.146456693 1.146456693 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.05E-10 1 5.74E-10 1 4.08E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 70051487 C A UGT2B11 CCDS3527.1 r.? - - intronic 28 0 0 31 5 16.1 33 6 18.2 66 18 27.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.183823529 1.183823529 1 1.073746313 1.073746313 1 0.85984252 0.85984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000476 1 1.54E-08 1 2.08E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 70676411 A G - - - - - - 26 0 0 31 7 22.6 41 3 7.3 53 18 34 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.661764706 1.661764706 1 0.430678466 0.430678466 1 1.070866142 1.070866142 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.85E-10 1 0.001155993 1 2.09E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 71044809 C T - - - - - - 37 0 0 36 7 19.4 40 9 22.5 64 20 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.426470588 1.426470588 1 1.327433628 1.327433628 1 0.982677165 0.982677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.74E-10 1 4.64E-13 1 1.52E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 71057169 T G - - - - - - 36 0 0 34 3 8.8 48 8 16.7 69 19 27.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.647058824 0.647058824 1 0.985250737 0.985250737 1 0.866141732 0.866141732 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000666058 1 1.23E-10 1 6.95E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 72762525 C G - - - - - - 25 0 0 48 7 14.6 31 7 22.6 47 13 27.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.073529412 1.073529412 1 1.333333333 1.333333333 1 0.872440945 0.872440945 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.81E-09 1 1.85E-10 1 1.47E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 73045648 C G - - - - - - 37 0 0 38 10 26.3 42 6 14.3 67 28 41.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.933823529 1.933823529 1 0.843657817 0.843657817 1 1.316535433 1.316535433 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.06E-15 1 7.02E-08 1 1.81E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 73139503 A T - - - - - - 31 0 0 36 5 13.9 36 7 19.4 59 22 37.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.022058824 1.022058824 1 1.144542773 1.144542773 1 1.17480315 1.17480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000104 1 5.74E-10 1 1.79E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 73139545 A C - - - - - - 32 0 0 37 8 21.6 35 11 31.4 70 22 31.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.588235294 1.588235294 1 1.852507375 1.852507375 1 0.988976378 0.988976378 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.33E-11 1 1.82E-17 1 1.63E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 73924867 G A COX18 CCDS3554.1 r.? - - intronic 30 0 0 33 5 15.2 31 0 0 55 18 32.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.117647059 1.117647059 1 0 0 1 1.02992126 1.02992126 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.00000066 1 1 1 4.61E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 75765693 C T - - - - - - 24 0 0 17 5 29.4 27 5 18.5 43 15 34.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.161764706 2.161764706 1 1.091445428 1.091445428 1 1.099212598 1.099212598 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.84E-08 1 0.00000023 1 4.05E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 78624350 C T - - - - - - 33 0 0 42 6 14.3 39 9 23.1 69 24 34.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 1.362831858 1.362831858 1 1.096062992 1.096062992 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.02E-08 1 3.62E-13 1 1.11E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 79048309 A G FRAS1 ENST00000264895 r.? - - intronic 25 0 0 35 4 11.4 39 9 23.1 67 20 29.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838235294 0.838235294 1 1.362831858 1.362831858 1 0.941732283 0.941732283 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000289 1 3.62E-13 1 4.42E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 79679061 C T - - - - - - 35 0 0 41 11 26.8 34 6 17.6 76 25 32.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.970588235 1.970588235 1 1.038348083 1.038348083 1 1.036220472 1.036220472 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.34E-16 1 1.86E-08 1 1.83E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 12058681 G A - - - - - - 17 0 0 34 5 14.7 49 8 16.3 107 25 23.4 70 0 0 143 19 13.3 221 24 10.9 1.22E-17 232 43 18.5 TRUE TRUE 1.618574682 1.618574682 1 1.520819557 1.520819557 1 1.344224962 1.344224962 1 1.464424712 1.464424712 1 1.016989765 1.016989765 1 1.062741957 1.062741957 1 9 12 1 1 0.000000771 2.22E-21 1.47E-10 1.88E-24 3.34E-34 6.09E-53 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 4 81672658 C T C4orf22 CCDS3587.1 r.? - - intronic 29 0 0 35 7 20 23 2 8.7 58 25 43.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 0.513274336 0.513274336 1 1.357480315 1.357480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.65E-10 1 0.00589844 1 4.44E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 82512207 C T - - - - - - 25 0 0 28 7 25 38 12 31.6 68 28 41.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.838235294 1.838235294 1 1.864306785 1.864306785 1 1.297637795 1.297637795 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.44E-11 1 5.86E-19 1 3.06E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 83638977 G A SCD5 CCDS34024.1 r.? - - intronic 35 0 0 36 5 13.9 27 3 11.1 74 21 28.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.022058824 1.022058824 1 0.654867257 0.654867257 1 0.894488189 0.894488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000104 1 0.000334187 1 5.6E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 86906768 C T ARHGAP24 CCDS34025.1 r.? - - intronic 35 0 0 35 6 17.1 47 8 17 71 29 40.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.257352941 1.257352941 1 1.002949853 1.002949853 1 1.28503937 1.28503937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-08 1 1.03E-10 1 1.04E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 88103804 A G KLHL8 CCDS3617.1 r.? - - intronic 33 0 0 37 5 13.5 46 12 26.1 58 19 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.992647059 0.992647059 1 1.539823009 1.539823009 1 1.033070866 1.033070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000119 1 8.12E-18 1 1.5E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 89103435 C T ABCG2 ENST00000515655 r.? - - intronic 30 0 0 41 10 24.4 44 3 6.8 52 13 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.794117647 1.794117647 1 0.401179941 0.401179941 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.51E-15 1 0.00142027 1 6.47E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 89614469 A G HERC3 CCDS34028.1 r.? - - intronic 31 0 0 34 5 14.7 34 7 20.6 59 17 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.080882353 1.080882353 1 1.215339233 1.215339233 1 0.907086614 0.907086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000771 1 3.73E-10 1 1.74E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 91404307 T C FAM190A CCDS47100.1 r.? - - intronic 35 0 0 38 8 21.1 51 9 17.6 66 17 25.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.551470588 1.551470588 1 1.038348083 1.038348083 1 0.812598425 0.812598425 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.67E-11 1 4.92E-12 1 1.52E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 91404590 T C FAM190A CCDS47100.1 r.? - - intronic 41 0 0 41 10 24.4 29 2 6.9 58 16 27.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.794117647 1.794117647 1 0.407079646 0.407079646 1 0.869291339 0.869291339 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.51E-15 1 0.009279585 1 1E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 94364560 C T GRID2 CCDS3637.1 r.? - - intronic 35 0 0 29 8 27.6 22 5 22.7 54 16 29.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.753411765 1.753411765 1 1.112233038 1.112233038 1 0.636283465 0.636283465 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.53E-12 1 7.67E-08 1 2.69E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 94364561 A C GRID2 CCDS3637.1 r.? - - intronic 36 0 0 29 8 27.6 21 4 19 51 16 31.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.753411765 1.753411765 1 0.930943953 0.930943953 1 0.674976378 0.674976378 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.53E-12 1 0.00000349 1 9.28E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 96481945 G A - - - - - - 36 0 0 29 5 17.2 32 6 18.8 47 23 48.9 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.092705882 1.092705882 1 0.921144543 0.921144543 1 1.05115748 1.05115748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000336 1 1.27E-08 1 1.71E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 98467354 G T - - - - - - 39 0 0 29 5 17.2 22 4 18.2 57 26 45.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.092705882 1.092705882 1 0.891746313 0.891746313 1 0.980220472 0.980220472 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000336 1 0.00000425 1 1.57E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 99021600 C T C4orf37 CCDS3645.1 r.? - - intronic 36 0 0 20 4 20 35 5 14.3 40 13 32.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.270588235 1.270588235 1 0.700657817 0.700657817 1 0.698622047 0.698622047 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000284 1 0.000000895 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 99633085 G C - - - - - - 29 0 0 29 4 13.8 32 1 3.1 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.876705882 0.876705882 1 0.151890855 0.151890855 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.0000134 1 0.14819814 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 99857252 G T - - - - - - 36 0 0 29 11 37.9 32 8 25 45 24 53.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.407764706 2.407764706 1 1.224926254 1.224926254 1 1.145740157 1.145740157 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.56E-18 1 3.69E-12 1 2.03E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 104112764 G A CENPE CCDS34042.1 r.? - - intronic 31 0 0 22 4 18.2 41 1 2.4 38 1 2.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.156235294 1.156235294 1 0.11759292 0.11759292 1 0.055889764 0.055889764 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.00000425 1 0.18577148 1 0.173434892 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 104112804 G A CENPE CCDS34042.1 r.? - - intronic 30 0 0 20 5 25 38 2 5.3 42 2 4.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.588235294 1.588235294 1 0.259684366 0.259684366 1 0.103181102 0.103181102 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 4.55E-08 1 0.015598339 1 0.018854633 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 105356186 G C - - - - - - 35 0 0 32 5 15.6 30 3 10 42 16 38.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.991058824 0.991058824 1 0.489970501 0.489970501 1 0.819 0.819 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 0.000458697 1 2.25E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 107000755 C G TBCK CCDS3673.1 r.? - - intronic 35 0 0 32 4 12.5 45 12 26.7 44 24 54.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 1.308221239 1.308221239 1 1.171535433 1.171535433 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 6.03E-18 1 9.53E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 111947810 T C - - - - - - 29 0 0 35 6 17.1 29 3 10.3 45 20 44.4 2 0 0 4 0 0 6 2 33.3 0.001460448 2 0 0 TRUE TRUE 1.086352941 1.086352941 1 0.504669617 0.504669617 1 0.954425197 0.954425197 1 0 0 1 1.63160177 1.63160177 1 0 0 1 9 8 1 1 2.24E-08 1 0.000414371 0.000370028 2.68E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 113999495 T C ANK2 CCDS3702.1 r.? - - intronic 26 0 0 23 5 21.7 31 5 16.1 54 36 66.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.378588235 1.378588235 1 0.788852507 0.788852507 1 1.433787402 1.433787402 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.75E-08 1 0.000000476 1 1.29E-69 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 118595936 T A - - - - - - 35 0 0 23 5 21.7 22 9 40.9 36 15 41.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.378588235 1.378588235 1 2.003979351 2.003979351 1 0.896385827 0.896385827 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.75E-08 1 9.16E-16 1 1.54E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 118973468 A G NDST3 CCDS3708.1 r.? - - intronic 36 0 0 24 5 20.8 26 2 7.7 38 20 52.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.321411765 1.321411765 1 0.377277286 0.377277286 1 1.130692913 1.130692913 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000123 1 0.007502227 1 2.94E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 122134592 C T TNIP3 CCDS3718.1 r.? - - intronic 23 0 0 26 6 23.1 22 2 9.1 50 16 32 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.467529412 1.467529412 1 0.445873156 0.445873156 1 0.687874016 0.687874016 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.3E-09 1 0.005403392 1 6.4E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 122203244 G A - - - - - - 32 0 0 27 5 18.5 26 9 34.6 47 28 59.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.175294118 1.175294118 1 1.695297935 1.695297935 1 1.281165354 1.281165354 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000023 1 5.65E-15 1 2.37E-52 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 124793994 C G - - - - - - 32 0 0 27 7 25.9 31 11 35.5 57 33 57.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.645411765 1.645411765 1 1.73939528 1.73939528 1 1.244622047 1.244622047 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.36E-11 1 3.77E-18 1 7.79E-61 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 126365281 A T FAT4 CCDS3732.3 r.? - - intronic 33 0 0 26 6 23.1 45 8 17.8 41 23 56.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.467529412 1.467529412 1 0.872147493 0.872147493 1 1.205929134 1.205929134 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.3E-09 1 7.14E-11 1 2.21E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 127791963 G A - - - - - - 33 0 0 31 5 16.1 39 13 33.3 46 22 47.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.022823529 1.022823529 1 1.63160177 1.63160177 1 1.027511811 1.027511811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000476 1 8.79E-21 1 1.68E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 132264772 A G - - - - - - 30 0 0 25 5 20 28 7 25 31 17 54.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.270588235 1.270588235 1 1.224926254 1.224926254 1 1.177984252 1.177984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000153 1 8.44E-11 1 1.89E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 135264781 G C - - - - - - 32 0 0 28 3 10.7 11 1 9.1 44 23 52.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.679764706 0.679764706 1 0.445873156 0.445873156 1 1.124244094 1.124244094 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000372895 1 0.05364542 1 2.17E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 138812979 C G - - - - - - 37 0 0 25 4 16 25 4 16 44 23 52.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.016470588 1.016470588 1 0.783952802 0.783952802 1 1.124244094 1.124244094 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000727 1 0.00000727 1 2.17E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 147048242 T C - - - - - - 37 0 0 37 11 29.7 36 6 16.7 46 26 56.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.886823529 1.886823529 1 0.818250737 0.818250737 1 1.214527559 1.214527559 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.7E-17 1 2.68E-08 1 7.59E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 148317202 T C - - - - - - 33 0 0 46 18 39.1 43 4 9.3 41 22 53.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.484 2.484 1 0.455672566 0.455672566 1 1.154338583 1.154338583 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.41E-30 1 0.000066 1 5.33E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 151102443 C G DCLK2 CCDS34076.1 r.? - - intronic 36 0 0 38 10 26.3 27 8 29.6 43 24 55.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.670823529 1.670823529 1 1.450312684 1.450312684 1 1.199480315 1.199480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.06E-15 1 7.97E-13 1 4.35E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 153970149 G T ENSG00000235872 ENST00000449499 r.? - - intronic 34 0 0 21 3 14.3 33 0 0 45 0 0 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 0 0 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.000155401 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 154724503 A G - - - - - - 29 0 0 51 5 9.8 32 11 34.4 63 40 63.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.622588235 0.622588235 1 1.685498525 1.685498525 1 1.365 1.365 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000606 1 5.72E-18 1 7.64E-76 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 161765159 C G - - - - - - 29 0 0 29 7 24.1 37 6 16.2 47 26 55.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.531058824 1.531058824 1 0.793752212 0.793752212 1 1.188732283 1.188732283 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.11E-10 1 3.18E-08 1 1.69E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 162483969 C T FSTL5 CCDS3802.1 r.? - - intronic 32 0 0 26 5 19.2 29 7 24.1 44 17 38.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.219764706 1.219764706 1 1.180828909 1.180828909 1 0.829748031 0.829748031 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000188 1 1.11E-10 1 4.61E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 162501603 G C FSTL5 CCDS3802.1 r.? - - intronic 38 0 0 27 4 14.8 26 2 7.7 48 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.940235294 0.940235294 1 0.377277286 0.377277286 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.00001 1 0.007502227 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 162730466 G C FSTL5 CCDS3802.1 r.? - - intronic 37 0 0 31 4 12.9 21 4 19 44 22 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.819529412 0.819529412 1 0.930943953 0.930943953 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000177 1 0.00000349 1 4.51E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 163967601 T A - - - - - - 31 0 0 29 10 34.5 27 6 22.2 38 15 39.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.191764706 2.191764706 1 1.087734513 1.087734513 1 0.849094488 0.849094488 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.79E-16 1 4.23E-09 1 4.24E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 166875139 T G TLL1 CCDS3811.1 r.? - - intronic 36 0 0 31 5 16.1 28 4 14.3 54 18 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.022823529 1.022823529 1 0.700657817 0.700657817 1 0.715818898 0.715818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000476 1 0.0000116 1 3.12E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 167401449 G A - - - - - - 35 0 0 33 6 18.2 36 4 11.1 43 14 32.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.156235294 1.156235294 1 0.543867257 0.543867257 1 0.700771654 0.700771654 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.54E-08 1 0.0000324 1 4.18E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 168743310 T C - - - - - - 32 0 0 31 4 12.9 37 1 2.7 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.819529412 0.819529412 1 0.132292035 0.132292035 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.0000177 1 0.169281299 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 169194260 C T DDX60 CCDS34097.1 r.? - - intronic 28 0 0 36 6 16.7 32 3 9.4 39 19 48.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 0.460572271 0.460572271 1 1.046858268 1.046858268 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.68E-08 1 0.000556213 1 1.2E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 171996766 A G - - - - - - 34 0 0 28 4 14.3 23 5 21.7 35 20 57.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 1.063235988 1.063235988 1 1.227425197 1.227425197 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000116 1 9.75E-08 1 2.88E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 173440147 C T GALNTL6 CCDS34104.1 r.? - - intronic 35 0 0 21 5 23.8 30 6 20 30 11 36.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.512 1.512 1 0.979941003 0.979941003 1 0.788905512 0.788905512 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.95E-08 1 8.37E-09 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 173646187 T A GALNTL6 CCDS34104.1 r.? - - intronic 26 0 0 38 5 13.2 30 7 23.3 39 22 56.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838588235 0.838588235 1 1.141631268 1.141631268 1 1.212377953 1.212377953 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000137 1 1.44E-10 1 1.12E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 174620419 G A - - - - - - 20 0 0 36 6 16.7 23 4 17.4 53 29 54.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 0.852548673 0.852548673 1 1.175834646 1.175834646 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.68E-08 1 0.00000513 1 1.29E-52 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 175166908 T C FBXO8 CCDS3820.1 r.? - - intronic 38 0 0 33 6 18.2 34 10 29.4 68 30 44.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.156235294 1.156235294 1 1.440513274 1.440513274 1 0.947976378 0.947976378 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.54E-08 1 1.15E-15 1 1.38E-50 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 175435825 G T HPGD CCDS3821.1 r.? - - intronic 32 0 0 27 5 18.5 34 8 23.5 44 26 59.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.175294118 1.175294118 1 1.151430678 1.151430678 1 1.270417323 1.270417323 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000023 1 6.32E-12 1 1.41E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 175515005 G A - - - - - - 39 0 0 29 9 31 27 5 18.5 54 17 31.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.969411765 1.969411765 1 0.906445428 0.906445428 1 0.677125984 0.677125984 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.79E-14 1 0.00000023 1 3.02E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 180357241 G T - - - - - - 27 0 0 28 6 21.4 27 1 3.7 45 15 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.359529412 1.359529412 1 0.181289086 0.181289086 1 0.715818898 0.715818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.36E-09 1 0.126579904 1 9.14E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 180639119 T C - - - - - - 35 0 0 25 4 16 32 5 15.6 58 32 55.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.016470588 1.016470588 1 0.764353982 0.764353982 1 1.186582677 1.186582677 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000727 1 0.000000562 1 4.55E-58 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 180983282 A T - - - - - - 39 0 0 33 8 24.2 29 4 13.8 48 15 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.537411765 1.537411765 1 0.676159292 0.676159292 1 0.670677165 0.670677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.85E-12 1 0.0000134 1 2.86E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 183929371 C T - - - - - - 36 0 0 30 7 23.3 26 7 26.9 35 19 54.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.480235294 1.480235294 1 1.318020649 1.318020649 1 1.16723622 1.16723622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.44E-10 1 4.73E-11 1 7.18E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 185273523 G A - - - - - - 34 0 0 30 8 26.7 40 10 25 53 22 41.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.696235294 1.696235294 1 1.224926254 1.224926254 1 0.892086614 0.892086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.07E-12 1 7.22E-15 1 9.5E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 186191769 C A SNX25 CCDS34116.1 r.? - - intronic 20 0 0 33 6 18.2 33 16 48.5 45 21 46.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.156235294 1.156235294 1 2.376356932 2.376356932 1 1.003866142 1.003866142 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.54E-08 1 1.64E-28 1 1.6E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 186234357 A C SNX25 CCDS34116.1 r.? - - intronic 42 0 0 26 7 26.9 32 6 18.8 43 20 46.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.708941176 1.708941176 1 0.921144543 0.921144543 1 0.999566929 0.999566929 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.73E-11 1 1.27E-08 1 8.21E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 252388 G C SDHA CCDS3853.1 r.? - - intronic 26 0 0 32 14 43.8 32 7 21.9 85 62 72.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.35177414 1.457602878 2.299511197 1.347124579 1.347124579 1 3.025062992 1.008354331 3 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.65E-24 1 2.36E-10 1 6.7E-123 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 413175 T C AHRR CCDS43297.1 r.? - - intronic 46 0 0 34 13 38.2 31 16 51.6 93 64 68.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.923236807 1.271242693 2.299511197 3.174046953 1.409717167 2.251548769 2.854929134 0.951643045 3 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.03E-21 1 4.27E-29 1 4.84E-124 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 22843657 T G - - - - - - 18 0 0 16 3 18.8 6 0 0 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.194352941 1.194352941 1 0 0 1 0.335338583 0.335338583 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000667 1 1 1 0.000000562 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 876704 G A BRD9 CCDS34127.1 r.? - - intronic 24 0 0 36 10 27.8 12 4 33.3 89 61 68.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.12738176 1.06369088 2 2.04836751 2.04836751 1 2.842480315 0.947493438 3 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.21E-15 1 0.0000003 1 4.03E-118 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 1753050 C T - - - - - - 40 0 0 38 11 28.9 10 4 40 67 49 73.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.211558736 0.961751671 2.299511197 2.460501514 2.460501514 1 3.033362205 1.011120735 3 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 5.19E-17 1 0.000000128 1 1.52E-97 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 1807734 G A NDUFS6 CCDS3866.1 r.? - - intronic 19 0 0 29 4 13.8 5 0 0 49 14 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.056038428 1.056038428 1 0 NA 0 1.186787402 1.186787402 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.0000134 1 1 1 3.5E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 2282667 G A - - - - - - 28 0 0 29 10 34.5 5 4 80 63 49 77.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.640096069 1.148111856 2.299511197 4.921003027 2.185608011 2.251548769 3.228393701 1.076131234 3 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.79E-16 1 3.11E-09 1 6.2E-100 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 3770056 C T - - - - - - 26 0 0 61 7 11.5 33 2 6.1 76 43 56.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.880032023 0.880032023 1 0.375226481 0.375226481 1 2.348677165 1.174338583 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.69E-08 1 0.011909843 1 3.48E-78 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 5095803 T G - - - - - - 28 0 0 46 15 32.6 36 21 58.3 94 66 70.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.494699474 1.084882508 2.299511197 3.586180956 1.592761838 2.251548769 2.913023622 0.971007874 3 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.35E-23 1 2.47E-39 1 7.73E-129 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 8331532 C T - - - - - - 35 0 0 29 6 20.7 23 7 30.4 71 33 46.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.584057641 1.584057641 1 1.86998115 1.86998115 1 1.929566929 0.964783465 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 6.72E-09 1 1.79E-11 1 1.81E-56 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 8506846 G T - - - - - - 18 0 0 40 4 10 22 1 4.5 93 26 28 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.765245237 0.765245237 1 0.27680642 NA 0 1.161889764 1.161889764 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.0000495 1 0.104413009 1 8.48E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 8581820 C T - - - - - - 35 0 0 27 5 18.5 31 11 35.5 68 47 69.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.415703689 1.415703689 1 2.183695093 0.969863555 2.251548769 2.867377953 0.955792651 3 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000023 1 3.77E-18 1 1.2E-91 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 9503314 C T SEMA5A CCDS3875.1 r.? - - intronic 35 0 0 47 13 27.7 50 14 28 82 47 57.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.119729307 1.059864654 2 1.72235106 0.764962804 2.251548769 2.377724409 1.188862205 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.47E-19 1 4.84E-21 1 1.06E-85 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 10477816 C G - - - - - - 24 0 0 34 7 20.6 39 11 28.2 93 63 67.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.576405189 1.576405189 1 1.734653567 0.770426824 2.251548769 2.809283465 0.936427822 3 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.73E-10 1 7.2E-17 1 2.06E-121 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 11159635 G A CTNND2 CCDS3881.1 r.? - - intronic 36 0 0 29 8 27.6 39 12 30.8 91 61 67 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.112076855 1.056038428 2 1.894586165 0.841459084 2.251548769 2.78023622 0.926745407 3 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.53E-12 1 8.43E-19 1 3.76E-117 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 12189790 C G - - - - - - 36 0 0 37 6 16.2 18 2 11.1 84 43 51.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.239697284 1.239697284 1 0.68278917 0.68278917 1 2.124598425 1.062299213 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.18E-08 1 0.003626632 1 1.53E-75 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 12566821 C T - - - - - - 28 0 0 32 6 18.8 44 13 29.5 78 34 43.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.438661046 1.438661046 1 1.814619866 0.805942954 2.251548769 1.809228346 0.904614173 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.27E-08 1 5.49E-20 1 6.78E-57 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 13068612 C A - - - - - - 27 0 0 34 8 23.5 46 10 21.7 81 35 43.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.798326308 1.798326308 1 1.334822071 1.334822071 1 1.792629921 0.896314961 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 6.32E-12 1 3.38E-14 1 2.37E-58 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 15297296 C T - - - - - - 10 0 0 18 5 27.8 16 8 50 30 21 70 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.12738176 2.12738176 1 3.075626892 1.366005007 2.251548769 2.904724409 0.96824147 3 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 2.54E-08 1 4.85E-15 1 6.53E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 17237624 G A BASP1 CCDS3888.1 r.? - - intronic 33 0 0 48 25 52.1 20 11 55 71 53 74.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.986927687 1.733815296 2.299511197 3.383189581 1.502605508 2.251548769 3.095606299 1.031868766 3 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 8.26E-45 1 7.87E-21 1 3.16E-106 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 17290224 C T - - - - - - 32 0 0 37 7 18.9 30 7 23.3 94 24 25.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.446313499 1.446313499 1 1.433242132 1.433242132 1 1.058149606 1.058149606 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 7.05E-10 1 1.44E-10 1 6.23E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 17635358 T A - - - - - - 13 0 0 22 4 18.2 18 6 33.3 85 30 35.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.392746332 1.392746332 1 2.04836751 2.04836751 1 1.464811024 0.732405512 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000425 1 2.75E-10 1 5.97E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 17933285 C A - - - - - - 23 0 0 28 10 35.7 39 20 51.3 87 70 80.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.731925497 1.188046182 2.299511197 3.155593191 1.401521137 2.251548769 3.340433071 1.11347769 3 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.18E-16 1 6E-36 1 3.85E-144 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 18119682 G A - - - - - - 29 0 0 36 7 19.4 25 9 36 87 52 59.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.48457576 1.48457576 1 2.214451362 0.983523605 2.251548769 2.481464567 0.827154856 3 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 5.74E-10 1 3.71E-15 1 4.73E-96 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 18617649 G T - - - - - - 28 0 0 37 8 21.6 34 7 20.6 108 43 39.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.652929713 1.652929713 1 1.26715828 1.26715828 1 1.651543307 0.825771654 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.33E-11 1 3.73E-10 1 2.2E-69 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 18808945 A C - - - - - - 30 0 0 29 4 13.8 28 4 14.3 69 14 20.3 0 0 NA 0 0 NA 2 0 0 1 0 0 NA TRUE FALSE 1.056038428 1.056038428 1 0.879629291 0.879629291 1 0.842370079 0.842370079 1 NA NA 1 0 NA 0 NA NA 1 9 NA 1 1 0.0000134 1 0.0000116 1 7.3E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 19265669 C T - - - - - - 38 0 0 40 6 15 42 8 19 83 42 50.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.147867856 1.147867856 1 1.168738219 1.168738219 1 2.099700787 1.049850394 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 5.18E-08 1 3.96E-11 1 1.56E-73 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 19325304 T A - - - - - - 29 0 0 41 6 14.6 41 5 12.2 76 14 18.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.117258047 1.117258047 1 0.750452962 0.750452962 1 0.763527559 0.763527559 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 6.05E-08 1 0.00000202 1 3.14E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 19585413 G A CDH18 CCDS3652.1 r.? - - intronic 32 0 0 36 13 36.1 31 12 38.7 82 50 61 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.762535307 1.201357624 2.299511197 2.380535214 1.057287875 2.251548769 2.531259843 0.843753281 3 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.53E-21 1 3.16E-20 1 4.51E-93 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 19635669 G A CDH18 CCDS3652.1 r.? - - intronic 25 0 0 35 6 17.1 34 13 38.2 71 50 70.4 0 0 NA 0 0 NA 0 0 NA 1 1 0 0 TRUE FALSE 1.308569356 1.308569356 1 2.349778946 1.043627825 2.251548769 2.921322835 0.973774278 3 NA NA 1 NA NA 0 0 0 1 9 NA 1 1 2.24E-08 1 1.03E-21 1 4.38E-98 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 20047347 G A CDH18 CCDS3652.1 r.? - - intronic 26 0 0 38 4 10.5 35 8 22.9 59 16 27.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.803507499 0.803507499 1 1.408637117 1.408637117 1 1.124543307 1.124543307 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000403 1 8.15E-12 1 1.37E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 20312630 C T CDH18 CCDS3652.1 r.? - - intronic 27 0 0 34 6 17.6 29 1 3.4 84 45 53.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.346831618 1.346831618 1 0.209142629 NA 0 2.224188976 1.112094488 2 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1.86E-08 1 0.135292269 1 3.19E-80 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 20522052 G A CDH18 CCDS3652.1 r.? - - intronic 33 0 0 40 4 10 43 7 16.3 96 22 22.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.765245237 0.765245237 1 1.002654367 1.002654367 1 0.950259843 0.950259843 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000495 1 2.15E-09 1 4.46E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 20972181 C T - - - - - - 42 0 0 30 4 13.3 31 7 22.6 68 20 29.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.017776166 1.017776166 1 1.390183355 1.390183355 1 0.925984252 0.925984252 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000154 1 1.85E-10 1 6.23E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 21045686 G A - - - - - - 23 0 0 31 8 25.8 20 5 25 52 37 71.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.974332712 0.987166356 2 1.537813446 1.537813446 1 2.242519685 1.121259843 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.78E-12 1 4.55E-08 1 3.03E-73 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 22410433 G C CDH12 CCDS3890.1 r.? - - intronic 36 0 0 29 3 10.3 27 3 11.1 58 16 27.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.731953889 0.731953889 1 0.654867257 0.654867257 1 0.869291339 0.869291339 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000414371 1 0.000334187 1 1E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 22644017 T C CDH12 CCDS3890.1 r.? - - intronic 31 0 0 38 8 21.1 34 6 17.6 60 23 38.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.49943952 1.49943952 1 1.038348083 1.038348083 1 1.206299213 1.206299213 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 1.67E-11 1 1.86E-08 1 2.33E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 22685876 A C CDH12 CCDS3890.1 r.? - - intronic 30 0 0 25 5 20 34 9 26.5 65 45 69.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.421269687 1.421269687 1 1.563421829 1.563421829 1 2.179527559 1.08976378 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000000153 1 9.15E-14 1 7.3E-88 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 24209311 C A - - - - - - 33 0 0 40 7 17.5 45 11 24.4 81 55 67.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.243610976 1.243610976 1 1.439528024 1.439528024 1 2.138582677 1.069291339 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 1.26E-09 1 4.24E-16 1 2.76E-106 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 24299890 C T - - - - - - 38 0 0 31 13 41.9 29 9 31 67 45 67.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.977559995 1.698156534 1.75340726 1.828908555 0.914454277 2 2.116535433 1.058267717 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 2.32E-22 1 1.79E-14 1 6.92E-87 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 24939601 G A - - - - - - 41 0 0 41 5 12.2 43 6 14 55 13 23.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.866974509 0.866974509 1 0.825958702 0.825958702 1 0.743307087 0.743307087 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00000202 1 8.13E-08 1 1.46E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 25540452 T A - - - - - - 39 0 0 29 4 13.8 34 3 8.8 42 14 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.980676084 0.980676084 1 0.519174041 0.519174041 1 1.048818898 1.048818898 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000134 1 0.000666058 1 2.83E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 25850897 T C - - - - - - 26 0 0 32 10 31.2 24 6 25 64 40 62.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.217180712 1.264498421 1.75340726 1.474926254 1.474926254 1 1.968503937 0.984251969 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 5.7E-16 1 1.95E-09 1 2.03E-75 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 27222409 G A - - - - - - 29 0 0 31 4 12.9 34 13 38.2 59 34 57.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.916718948 0.916718948 1 2.253687316 1.126843658 2 1.814173228 0.907086614 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000177 1 1.03E-21 1 1.56E-62 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 27325993 A T - - - - - - 39 0 0 34 4 11.8 28 0 0 59 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838549116 0.838549116 1 0 0 1 0 0 1 NA NA 0 NA NA 1 NA NA 1 8 NA 1 1 0.0000257 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 27721917 C A - - - - - - 24 0 0 38 9 23.7 29 13 44.8 57 35 61.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.68420458 1.68420458 1 2.643067847 1.321533923 2 1.933858268 0.966929134 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 2.79E-13 1 7.69E-23 1 9.12E-66 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 28017294 T C - - - - - - 36 0 0 33 5 15.2 37 5 13.5 59 18 30.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.080164962 1.080164962 1 0.796460177 0.796460177 1 0.960629921 0.960629921 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 0.00000119 1 2.03E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 28067387 G T - - - - - - 24 0 0 26 7 26.9 19 6 31.6 67 41 61.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.911607729 1.911607729 1 1.864306785 1.864306785 1 1.927559055 0.963779528 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 4.73E-11 1 4.01E-10 1 1.08E-76 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 28662347 G A - - - - - - 34 0 0 41 5 12.2 36 7 19.4 69 13 18.8 0 0 NA 1 0 0 0 0 NA 1 0 0 NA TRUE FALSE 0.866974509 0.866974509 1 1.144542773 1.144542773 1 0.592125984 0.592125984 1 0 NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00000202 1 5.74E-10 1 3.64E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 29864854 G A - - - - - - 23 0 0 28 10 35.7 37 12 32.4 58 35 60.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.536966392 1.446878001 1.75340726 1.911504425 0.955752212 2 1.899212598 0.949606299 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 1.18E-16 1 4.03E-19 1 2.29E-65 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 30467460 G C - - - - - - 23 0 0 31 5 16.1 32 6 18.8 56 22 39.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.144122098 1.144122098 1 1.109144543 1.109144543 1 1.237795276 1.237795276 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000000476 1 1.27E-08 1 4.34E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 31250192 G A CDH6 CCDS3894.1 r.? - - intronic 28 0 0 34 10 29.4 20 2 10 60 39 65 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.08926644 1.191546589 1.75340726 0.589970501 0.589970501 1 2.047244094 1.023622047 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 1.15E-15 1 0.004473894 1 1.31E-74 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 34342330 T G - - - - - - 37 0 0 35 3 8.6 32 3 9.4 76 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.611145966 0.611145966 1 0.554572271 0.554572271 1 0 0 1 NA NA 0 NA NA 1 NA NA 1 7 NA 1 1 0.000725791 1 0.000556213 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 35779196 G A SPEF2 CCDS43309.1 r.? - - intronic 36 0 0 32 9 28.1 50 15 30 63 35 55.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.996883911 1.138859155 1.75340726 1.769911504 0.884955752 2 1.751181102 0.875590551 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 4.94E-14 1 5.83E-23 1 1.6E-63 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 36899843 A G NIPBL CCDS3920.1 r.? - - intronic 51 0 0 35 10 28.6 45 14 31.1 57 38 66.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.032415653 1.159123553 1.75340726 1.83480826 0.91740413 2 2.100787402 1.050393701 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 1.6E-15 1 8.81E-22 1 2.11E-73 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 37399296 C T WDR70 CCDS34147.1 r.? - - intronic 36 0 0 43 10 23.3 7 3 42.9 71 49 69 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.655779186 1.655779186 1 2.530973451 2.530973451 1 2.173228346 1.086614173 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 1.61E-14 1 0.00000431 1 1.98E-95 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 38202734 A G - - - - - - 20 0 0 25 7 28 43 16 37.2 64 43 67.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.989777562 1.134806275 1.75340726 2.194690265 1.097345133 2 2.116535433 1.058267717 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 3.47E-11 1 3.56E-26 1 4.22E-83 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 41740774 T C OXCT1 CCDS3937.1 r.? - - intronic 30 0 0 39 7 17.9 45 14 31.1 66 34 51.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.27203637 1.27203637 1 1.83480826 0.91740413 2 1.622047244 0.811023622 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 1.04E-09 1 8.81E-22 1 3.49E-60 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 42670070 C T GHR CCDS3940.1 r.? - - intronic 28 0 0 24 5 20.8 28 10 35.7 54 38 70.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.478120475 1.478120475 1 2.10619469 1.053097345 2 2.217322835 1.108661417 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000000123 1 1.18E-16 1 7.1E-75 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 43523599 G A PAIP1 CCDS3947.1 r.? - - downstream 30 0 0 24 7 29.2 46 21 45.7 64 51 79.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.075053744 1.18344083 1.75340726 2.696165192 1.348082596 2 2.51023622 1.25511811 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 2.51E-11 1 2.94E-36 1 5.47E-105 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 44656908 C G - - - - - - 36 0 0 33 5 15.2 28 9 32.1 63 37 58.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.080164962 1.080164962 1 1.89380531 0.946902655 2 1.848818898 0.924409449 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 1.24E-14 1 2.29E-68 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 44858594 G A - - - - - - 32 0 0 23 7 30.4 32 7 21.9 69 39 56.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.160329925 1.232075385 1.75340726 1.292035398 1.292035398 1 1.779527559 0.88976378 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 1.79E-11 1 2.36E-10 1 4.97E-71 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 44904019 T A - - - - - - 31 0 0 33 4 12.1 40 0 0 69 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.859868161 0.859868161 1 0 0 1 0 0 1 NA NA 0 NA NA 1 NA NA 1 8 NA 1 1 0.0000228 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 49614979 A G - - - - - - 23 0 0 32 6 18.8 36 7 19.4 44 16 36.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.194352941 1.194352941 1 0.950542773 0.950542773 1 0.782456693 0.782456693 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.27E-08 1 5.74E-10 1 5.57E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 50594736 C T - - - - - - 37 0 0 39 8 20.5 30 8 26.7 50 19 38 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.302352941 1.302352941 1 1.308221239 1.308221239 1 0.816850394 0.816850394 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.09E-11 1 2.07E-12 1 5E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 52092320 A G ITGA1 CCDS3955.1 r.? - - intronic 30 0 0 38 7 18.4 31 10 32.3 38 17 44.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.168941176 1.168941176 1 1.58260472 1.58260472 1 0.960874016 0.960874016 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.61E-10 1 3.94E-16 1 1.99E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 54124322 A G - - - - - - 27 0 0 37 10 27 33 8 24.2 36 20 55.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.715294118 1.715294118 1 1.185728614 1.185728614 1 1.195181102 1.195181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.01E-15 1 4.85E-12 1 6.46E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 55395601 T G ANKRD55 CCDS34161.1 r.2406a>c c.? p.? 3'UTR variant 41 0 0 30 5 16.7 26 7 26.9 53 22 41.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 1.318020649 1.318020649 1 0.892086614 0.892086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 4.73E-11 1 9.5E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 55694354 G A - - - - - - 27 0 0 19 4 21.1 5 3 60 34 18 52.9 0 0 NA 2 0 0 0 0 NA 1 0 0 NA TRUE FALSE 1.340470588 1.340470588 1 2.939823009 2.939823009 1 1.137141732 1.137141732 1 0 0 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000228 1 0.00000124 1 7.79E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 59636549 A G PDE4D CCDS47032.1 r.? - - intronic 34 0 0 44 8 18.2 34 6 17.6 47 20 42.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.156235294 1.156235294 1 0.862348083 0.862348083 1 0.915732283 0.915732283 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.9E-11 1 1.86E-08 1 8.18E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 61806813 G C IPO11 CCDS34167.1 r.? - - intronic 29 0 0 29 5 17.2 23 3 13 46 21 45.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.092705882 1.092705882 1 0.636961652 0.636961652 1 0.982370079 0.982370079 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000336 1 0.000205387 1 2.94E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 63104549 C G - - - - - - 32 0 0 31 4 12.9 27 7 25.9 43 17 39.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.819529412 0.819529412 1 1.269023599 1.269023599 1 0.849094488 0.849094488 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000177 1 6.36E-11 1 2.84E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 65634753 C T AC092373.1 ENST00000510964 r.? - - intronic 37 0 0 30 5 16.7 30 4 13.3 45 22 48.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 0.651660767 0.651660767 1 1.05115748 1.05115748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 0.0000154 1 8.79E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 66239317 A T MAST4 CCDS47225.1 r.? - - intronic 40 0 0 23 3 13 31 6 19.4 51 23 45.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.825882353 0.825882353 1 0.950542773 0.950542773 1 0.969472441 0.969472441 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000205387 1 1.03E-08 1 2.05E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 67025088 T A - - - - - - 37 0 0 31 3 9.7 36 10 27.8 51 24 47.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.616235294 0.616235294 1 1.362117994 1.362117994 1 1.012464567 1.012464567 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000505952 1 2.21E-15 1 1.2E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 67481592 G C - - - - - - 13 0 0 27 4 14.8 5 0 0 39 16 41 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.940235294 0.940235294 1 0 0 1 0.881338583 0.881338583 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00001 1 1 1 5.16E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 67593440 C T PIK3R1 CCDS3993.1 r.2228c>u c.? p.? 3'UTR variant 25 0 0 31 8 25.8 28 4 14.3 51 21 41.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.639058824 1.639058824 1 0.700657817 0.700657817 1 0.885637795 0.885637795 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.78E-12 1 0.0000116 1 4.73E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 67928955 C T - - - - - - 35 0 0 32 4 12.5 33 5 15.2 49 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 0.744755162 0.744755162 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.0000201 1 0.00000066 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 75212833 C T - - - - - - 45 0 0 30 9 30 24 3 12.5 41 17 41.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.905882353 1.905882353 1 0.612463127 0.612463127 1 0.892086614 0.892086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.54E-14 1 0.000233853 1 1.03E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 80940983 A G SSBP2 CCDS4056.1 r.? - - intronic 38 0 0 24 5 20.8 30 8 26.7 52 20 38.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.321411765 1.321411765 1 1.308221239 1.308221239 1 0.827598425 0.827598425 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000123 1 2.07E-12 1 1.03E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 84886055 C T - - - - - - 28 0 0 31 6 19.4 31 9 29 49 19 38.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.232470588 1.232470588 1 1.420914454 1.420914454 1 0.834047244 0.834047244 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.03E-08 1 3.57E-14 1 3.12E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 85005392 T C - - - - - - 30 0 0 18 8 44.4 23 6 26.1 24 8 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.820705882 2.820705882 1 1.278823009 1.278823009 1 0.715818898 0.715818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.63E-14 1 1.47E-09 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 85730135 G C - - - - - - 17 0 0 19 5 26.3 18 6 33.3 32 16 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.670823529 1.670823529 1 1.63160177 1.63160177 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.43E-08 1 2.75E-10 1 8.51E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 85877865 A G - - - - - - 17 0 0 20 4 20 32 3 9.4 44 20 45.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.270588235 1.270588235 1 0.460572271 0.460572271 1 0.978070866 0.978070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000284 1 0.000556213 1 1.5E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 88936583 T A - - - - - - 29 0 0 29 4 13.8 32 2 6.2 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.876705882 0.876705882 1 0.303781711 0.303781711 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.0000134 1 0.011224977 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 89130936 G T - - - - - - 18 0 0 21 3 14.3 23 0 0 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 0 0 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.000155401 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 89266871 G A - - - - - - 27 0 0 27 6 22.2 31 7 22.6 49 15 30.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.410352941 1.410352941 1 1.107333333 1.107333333 1 0.657779528 0.657779528 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.23E-09 1 1.85E-10 1 4.1E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 90565480 G C - - - - - - 16 0 0 22 7 31.8 20 1 5 33 14 42.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.020235294 2.020235294 1 0.244985251 0.244985251 1 0.911433071 0.911433071 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.25E-11 1 0.09538952 1 4.57E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 93478329 G C - - - - - - 34 0 0 23 3 13 28 7 25 44 23 52.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.825882353 0.825882353 1 1.224926254 1.224926254 1 1.124244094 1.124244094 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000205387 1 8.44E-11 1 2.17E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 93720765 C G C5orf36 ENST00000513200 r.? - - intronic 31 0 0 24 5 20.8 43 9 20.9 42 21 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.321411765 1.321411765 1 1.024038348 1.024038348 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000123 1 9.45E-13 1 2.32E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 98180869 C T - - - - - - 39 0 0 26 4 15.4 29 5 17.2 43 17 39.5 1 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.978352941 0.978352941 1 0.842749263 0.842749263 1 0.849094488 0.849094488 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000856 1 0.000000336 1 2.84E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 99076077 C A - - - - - - 23 0 0 36 7 19.4 26 5 19.2 34 18 52.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.232470588 1.232470588 1 0.940743363 0.940743363 1 1.137141732 1.137141732 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.74E-10 1 0.000000188 1 7.79E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 99082487 G T - - - - - - 24 0 0 30 4 13.3 35 3 8.6 40 20 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.844941176 0.844941176 1 0.421374631 0.421374631 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000154 1 0.000725791 1 1.19E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 99301019 G A - - - - - - 29 0 0 35 6 17.1 18 3 16.7 50 24 48 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.086352941 1.086352941 1 0.818250737 0.818250737 1 1.031811024 1.031811024 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-08 1 0.0000964 1 6.39E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 99708200 T C ENSG00000225753 ENST00000432795 r.? - - downstream 30 1 3.3 24 4 16.7 26 2 7.7 46 2 4.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 0.377277286 0.377277286 1 0.092433071 0.092433071 1 NA NA 1 NA NA 1 NA NA 1 7 NA 0.139615808 1 0.00000613 1 0.007502227 1 0.022369545 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 101556042 C T - - - - - - 33 0 0 43 6 14 44 8 18.2 44 25 56.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889411765 0.889411765 1 0.891746313 0.891746313 1 1.220976378 1.220976378 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.13E-08 1 5.9E-11 1 3.83E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 104508296 C T - - - - - - 29 0 0 24 5 20.8 31 5 16.1 37 17 45.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.321411765 1.321411765 1 0.788852507 0.788852507 1 0.986669291 0.986669291 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000123 1 0.000000476 1 1.1E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 71459419 T G FOXP1 CCDS2914.1 r.? - - intronic 39 0 0 38 13 34.2 51 16 31.4 68 51 75 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.172705882 2.172705882 1 1.538507375 1.538507375 1 1.612204724 1.612204724 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.88E-21 1 9.28E-25 1 1.84E-102 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 5020232 C T AKR1C1 CCDS7061.1 r.1462c>u c.? p.? 3'UTR variant 18 0 0 31 7 22.6 24 3 12.5 50 3 6 82 0 0 172 22 12.8 250 56 22.4 5.04E-57 217 15 6.9 TRUE TRUE 2.791764706 0.930588235 3 1.191701849 1.191701849 1 0.376000949 0.376000949 1 1.581176471 0.790588235 2 2.135529714 1.067764857 2 0.432401091 0.432401091 1 9 8 1 1 1.85E-10 3.86E-24 0.000233853 1.83E-73 0.002055544 6.15E-13 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 5 110313388 G A - - - - - - 27 0 0 29 8 27.6 31 7 22.6 31 15 48.4 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 1.753411765 1.753411765 1 1.107333333 1.107333333 1 1.040409449 1.040409449 1 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 1.53E-12 1 1.85E-10 1 8.51E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 111968438 A G - - - - - - 35 0 0 31 4 12.9 37 11 29.7 38 22 57.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.819529412 0.819529412 1 1.455212389 1.455212389 1 1.244622047 1.244622047 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000177 1 3.7E-17 1 4.91E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 112172572 A G APC CCDS4107.1 r.? - - intronic 24 0 0 27 6 22.2 22 3 13.6 55 29 52.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.410352941 1.410352941 1 0.666359882 0.666359882 1 1.13284252 1.13284252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.23E-09 1 0.000179267 1 5.85E-52 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 113153090 G C - - - - - - 31 0 0 32 10 31.2 23 1 4.3 52 22 42.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.982117647 1.982117647 1 0.210687316 0.210687316 1 0.909283465 0.909283465 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.7E-16 1 0.108890944 1 5.59E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 113842081 A G - - - - - - 33 0 0 30 6 20 32 10 31.2 35 15 42.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.270588235 1.270588235 1 1.528707965 1.528707965 1 0.922181102 0.922181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.37E-09 1 5.7E-16 1 9.02E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 117119295 C T - - - - - - 29 0 0 33 8 24.2 38 8 21.1 53 25 47.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.537411765 1.537411765 1 1.033837758 1.033837758 1 1.014614173 1.014614173 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.85E-12 1 1.67E-11 1 2.35E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 119155969 A C - - - - - - 33 0 0 32 6 18.8 27 5 18.5 42 19 45.2 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 1.194352941 1.194352941 1 0.906445428 0.906445428 1 0.971622047 0.971622047 1 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 1.27E-08 1 0.00000023 1 7.64E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 120580894 G A - - - - - - 36 0 0 24 5 20.8 39 10 25.6 35 16 45.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.321411765 1.321411765 1 1.254324484 1.254324484 1 0.982370079 0.982370079 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000123 1 5.44E-15 1 5.66E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 123510817 C G - - - - - - 39 0 0 35 6 17.1 24 5 20.8 50 23 46 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.086352941 1.086352941 1 1.019138643 1.019138643 1 0.988818898 0.988818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-08 1 0.000000123 1 1.13E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 124201049 T A - - - - - - 34 0 0 21 3 14.3 29 5 17.2 45 22 48.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 0.842749263 0.842749263 1 1.05115748 1.05115748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000155401 1 0.000000336 1 8.79E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 127571513 C A - - - - - - 35 0 0 33 8 24.2 36 9 25 56 29 51.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.537411765 1.537411765 1 1.224926254 1.224926254 1 1.113496063 1.113496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.85E-12 1 1.63E-13 1 1.21E-51 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 127856111 G A FBN2 CCDS34222.1 r.? - - intronic 37 0 0 38 9 23.7 44 7 15.9 43 27 62.8 0 0 NA 1 0 0 0 0 NA 1 0 0 NA TRUE FALSE 1.505647059 1.505647059 1 0.779053097 0.779053097 1 1.349952756 1.349952756 1 0 0 1 NA NA 1 NA NA 1 9 NA 1 1 2.79E-13 1 2.55E-09 1 1.83E-51 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 129727755 G T - - - - - - 24 0 0 28 7 25 33 2 6.1 55 29 52.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.588235294 1.588235294 1 0.298882006 0.298882006 1 1.13284252 1.13284252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.44E-11 1 0.011909843 1 5.85E-52 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 137896356 T G HSPA9 CCDS4208.1 r.? - - intronic 32 0 0 37 6 16.2 9 1 11.1 44 22 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.029176471 1.029176471 1 0.543867257 0.543867257 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.18E-08 1 0.044110422 1 4.51E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 140836685 A G PCDHGA12 CCDS47291.1 r.? - - intronic 35 0 0 33 6 18.2 23 6 26.1 46 18 39.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.156235294 1.156235294 1 1.278823009 1.278823009 1 0.840496063 0.840496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.54E-08 1 1.47E-09 1 9.41E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 143564321 T C KCTD16 ENST00000512467 r.? - - intronic 28 0 0 33 7 21.2 51 8 15.7 50 22 44 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.346823529 1.346823529 1 0.769253687 0.769253687 1 0.945826772 0.945826772 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.98E-10 1 2.05E-10 1 1.85E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 145292283 G A - - - - - - 31 0 0 29 5 17.2 27 7 25.9 41 22 53.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.092705882 1.092705882 1 1.269023599 1.269023599 1 1.154338583 1.154338583 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000336 1 6.36E-11 1 5.33E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 145739095 C G - - - - - - 31 0 0 34 6 17.6 21 4 19 45 21 46.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.118117647 1.118117647 1 0.930943953 0.930943953 1 1.003866142 1.003866142 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.86E-08 1 0.00000349 1 1.6E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 146422135 A G PPP2R2B CCDS4284.1 r.? - - intronic 43 0 0 31 6 19.4 27 4 14.8 51 25 49 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.232470588 1.232470588 1 0.725156342 0.725156342 1 1.053307087 1.053307087 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.03E-08 1 0.00001 1 6.52E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 146440816 G A PPP2R2B CCDS47001.1 r.? - - intronic 26 0 0 30 5 16.7 27 3 11.1 45 14 31.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 0.543867257 0.543867257 1 0.668527559 0.668527559 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 0.000334187 1 8.81E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 147650030 C A SPINK5L3 CCDS43383.1 r.? - - intronic 37 0 0 26 4 15.4 29 7 24.1 47 31 66 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.978352941 0.978352941 1 1.180828909 1.180828909 1 1.418740157 1.418740157 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000856 1 1.11E-10 1 6.48E-60 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 154719136 G A - - - - - - 41 0 0 31 5 16.1 42 8 19 50 23 46 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.022823529 1.022823529 1 0.930943953 0.930943953 1 0.988818898 0.988818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000476 1 3.96E-11 1 1.13E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 161589359 A T - - - - - - 35 0 0 35 6 17.1 42 7 16.7 55 31 56.4 1 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.086352941 1.086352941 1 0.818250737 0.818250737 1 1.212377953 1.212377953 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-08 1 1.81E-09 1 1.03E-56 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 162434188 G C - - - - - - 17 0 0 25 4 16 33 8 24.2 45 22 48.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.016470588 1.016470588 1 1.185728614 1.185728614 1 1.05115748 1.05115748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000727 1 4.85E-12 1 8.79E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 162436974 T G - - - - - - 40 0 0 26 5 19.2 24 4 16.7 44 22 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.219764706 1.219764706 1 0.818250737 0.818250737 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000188 1 0.00000613 1 4.51E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 163230530 A T - - - - - - 39 0 0 38 4 10.5 35 5 14.3 31 16 51.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.667058824 0.667058824 1 0.700657817 0.700657817 1 1.10919685 1.10919685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000403 1 0.000000895 1 4.27E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 165016497 C G - - - - - - 43 0 0 22 3 13.6 33 6 18.2 35 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.864 0.864 1 0.891746313 0.891746313 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.000179267 1 1.54E-08 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 168064434 C G - - - - - - 38 0 0 21 3 14.3 37 4 10.8 45 16 35.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 0.529168142 0.529168142 1 0.765259843 0.765259843 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000155401 1 0.0000362 1 8.61E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 174616998 T A - - - - - - 30 0 0 25 4 16 32 6 18.8 56 27 48.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.016470588 1.016470588 1 0.921144543 0.921144543 1 1.036110236 1.036110236 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000727 1 1.27E-08 1 4.78E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 177012383 C A - - - - - - 28 0 0 23 3 13 23 1 4.3 47 19 40.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.825882353 0.825882353 1 0.210687316 0.210687316 1 0.868440945 0.868440945 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000205387 1 0.108890944 1 1.16E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 385115 A T ENSG00000237960 ENST00000449432 r.? - - intronic 36 0 0 32 4 12.5 17 2 11.8 56 21 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 0.696165192 0.696165192 1 1.181102362 1.181102362 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 0.003234386 1 5.43E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 1470206 A T - - - - - - 29 0 0 33 5 15.2 30 5 16.7 63 27 42.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.117647059 1.117647059 1 0.985250737 0.985250737 1 1.351181102 0.675590551 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 0.000000401 1 3.06E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 2079553 T G GMDS CCDS4474.1 r.? - - intronic 37 0 0 37 5 13.5 39 8 20.5 63 15 23.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.992647059 0.992647059 1 1.209439528 1.209439528 1 0.749606299 0.749606299 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000119 1 2.09E-11 1 2.97E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 2079867 T A GMDS CCDS4474.1 r.? - - intronic 37 0 0 36 8 22.2 44 5 11.4 75 25 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.632352941 1.632352941 1 0.672566372 0.672566372 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.04E-11 1 0.00000288 1 1.23E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 2381339 G C - - - - - - 28 0 0 27 5 18.5 13 1 7.7 60 25 41.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.360294118 1.360294118 1 0.454277286 0.454277286 1 1.313385827 1.313385827 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000023 1 0.063085307 1 1.31E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 3592017 A T - - - - - - 34 0 0 37 9 24.3 39 6 15.4 64 20 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.786764706 0.893382353 2 0.908554572 0.908554572 1 0.982677165 0.982677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.14E-13 1 4.43E-08 1 1.52E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 5521998 G C FARS2 CCDS4494.1 r.? - - intronic 31 0 0 39 7 17.9 45 10 22.2 71 24 33.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.316176471 1.316176471 1 1.309734513 1.309734513 1 1.064566929 1.064566929 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.04E-09 1 2.66E-14 1 2.52E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 5810216 G A - - - - - - 35 0 0 39 12 30.8 32 12 37.5 65 45 69.2 0 0 NA 2 0 0 0 0 NA 1 0 0 NA TRUE FALSE 2.264705882 1.132352941 2 2.212389381 1.10619469 2 2.179527559 1.08976378 2 0 0 1 NA NA 1 NA NA 1 9 NA 1 1 8.43E-19 1 5.03E-20 1 7.3E-88 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 5937043 C T AL136307.1 ENST00000510466 r.? - - intronic 19 0 0 25 4 16 21 2 9.5 65 22 33.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.176470588 1.176470588 1 0.560471976 0.560471976 1 1.064566929 1.064566929 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000727 1 0.004928472 1 2.36E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 11448364 C T - - - - - - 31 0 0 30 7 23.3 38 6 15.8 70 23 32.9 0 0 NA 1 0 0 0 0 NA 1 0 0 NA TRUE FALSE 1.713235294 1.713235294 1 0.932153392 0.932153392 1 1.036220472 1.036220472 1 0 0 1 NA NA 1 NA NA 1 9 NA 1 1 1.44E-10 1 3.76E-08 1 1.7E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 11696649 G A - - - - - - 22 0 0 42 6 14.3 38 1 2.6 64 24 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 0.15339233 0.15339233 1 1.181102362 1.181102362 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.02E-08 1 0.173434892 1 1.23E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 17961109 G A KIF13A CCDS47380.1 r.? - - intronic 26 0 0 34 6 17.6 33 9 27.3 65 20 30.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.294117647 1.294117647 1 1.610619469 1.610619469 1 0.97007874 0.97007874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.86E-08 1 6.76E-14 1 2.18E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 19616279 G A - - - - - - 30 0 0 38 4 10.5 55 4 7.3 60 20 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.772058824 0.772058824 1 0.430678466 0.430678466 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000403 1 0.000173903 1 3.3E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 20861056 A C CDKAL1 CCDS4546.1 r.? - - intronic 25 0 0 33 4 12.1 20 1 5 78 2 2.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 0.294985251 0.294985251 1 0.081889764 0.081889764 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.0000228 1 0.09538952 1 0.058485548 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 21078236 G A CDKAL1 CCDS4546.1 r.? - - intronic 25 0 0 34 4 11.8 37 4 10.8 64 17 26.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.867647059 0.867647059 1 0.637168142 0.637168142 1 0.837795276 0.837795276 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 0.0000362 1 8.43E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 21084246 C G CDKAL1 CCDS4546.1 r.? - - intronic 40 0 0 34 6 17.6 31 7 22.6 66 29 43.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.294117647 1.294117647 1 1.333333333 1.333333333 1 1.382677165 0.691338583 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.86E-08 1 1.85E-10 1 6.96E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 22080235 C T - - - - - - 33 0 0 30 6 20 36 4 11.1 62 20 32.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 0.654867257 0.654867257 1 1.017322835 1.017322835 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.37E-09 1 0.0000324 1 7.19E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 24700726 C T C6orf62 CCDS4559.1 r.? - - downstream 24 0 0 28 4 14.3 22 5 22.7 44 11 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 1.339233038 1.339233038 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000116 1 7.67E-08 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 26220160 C T HIST1H2AE CCDS4595.1 r.? - - downstream 31 0 0 28 5 17.9 46 11 23.9 67 23 34.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.316176471 1.316176471 1 1.410029499 1.410029499 1 1.080314961 1.080314961 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000279 1 5.55E-16 1 5.12E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 26254696 T A HIST1H2BH CCDS4601.1 r.? - - downstream 36 0 0 27 5 18.5 18 2 11.1 62 16 25.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.360294118 1.360294118 1 0.654867257 0.654867257 1 0.812598425 0.812598425 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000023 1 0.003626632 1 3.36E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 27069338 A G - - - - - - 36 0 0 44 10 22.7 17 6 35.3 68 44 64.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.669117647 1.669117647 1 2.08259587 1.041297935 2 2.037795276 1.018897638 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.08E-14 1 1.84E-10 1 7.6E-84 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 28381743 T A - - - - - - 33 0 0 31 3 9.7 39 1 2.6 62 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.713235294 0.713235294 1 0.15339233 0.15339233 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.000505952 1 0.177567718 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 28556263 A C SCAND3 CCDS34355.1 r.? - - upstream 27 0 0 32 4 12.5 56 10 17.9 71 25 35.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 1.056047198 1.056047198 1 1.108661417 1.108661417 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 2.82E-13 1 2.38E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 29472908 C T - - - - - - 21 0 0 29 7 24.1 35 12 34.3 62 34 54.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.772058824 1.772058824 1 2.02359882 1.01179941 2 1.725984252 0.862992126 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.11E-10 1 1.83E-19 1 1.78E-61 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 32083955 G A ATF6B CCDS47408.1 r.? - - intronic 23 0 0 30 7 23.3 24 2 8.3 72 27 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.713235294 1.713235294 1 0.489675516 0.489675516 1 1.181102362 1.181102362 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.44E-10 1 0.006413403 1 2.82E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 33190067 C T - - - - - - 37 0 0 41 11 26.8 28 10 35.7 68 40 58.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.970588235 0.985294118 2 2.10619469 1.053097345 2 1.851968504 0.925984252 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.34E-16 1 1.18E-16 1 7.91E-74 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 40019775 C G - - - - - - 33 0 0 34 5 14.7 29 6 20.7 64 28 43.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.080882353 1.080882353 1 1.221238938 1.221238938 1 1.379527559 0.68976378 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000771 1 6.72E-09 1 3.5E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 40260729 T C - - - - - - 34 0 0 31 5 16.1 33 7 21.2 75 24 32 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.183823529 1.183823529 1 1.250737463 1.250737463 1 1.007874016 1.007874016 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000476 1 2.98E-10 1 1.2E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 41817126 C T USP49 CCDS4861.1 r.? - - intronic 27 0 0 45 9 20 33 5 15.2 76 29 38.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 0.896755162 0.896755162 1 1.203149606 1.203149606 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.47E-12 1 0.00000066 1 1.22E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 43785235 C A - - - - - - 34 0 0 29 6 20.7 13 3 23.1 61 20 32.8 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 TRUE FALSE 1.522058824 1.522058824 1 1.131831858 1.131831858 1 1.033070866 1.033070866 1 NA NA 1 NA NA 0 0 0 1 9 NA 1 1 6.72E-09 1 0.0000344 1 4.89E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 46318529 A G RCAN2 ENST00000371374 r.? - - intronic 23 0 0 32 5 15.6 39 11 28.2 46 20 43.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.303058824 1.303058824 1 1.381716814 1.381716814 1 0.985796016 0.985796016 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000562 1 7.2E-17 1 4.72E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 48478471 G A - - - - - - 31 0 0 21 4 19 44 6 13.6 51 26 51 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.587058824 1.587058824 1 0.666359882 0.666359882 1 1.155760846 1.155760846 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000349 1 9.37E-08 1 3.27E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 49538025 C T - - - - - - 32 0 0 39 5 12.8 29 8 27.6 62 18 29 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.069176471 1.069176471 1 1.628318584 1.628318584 1 0.913385827 0.913385827 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000156 1 1.53E-12 1 5.72E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 50197227 A T - - - - - - 37 0 0 39 6 15.4 38 7 18.4 51 23 45.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.286352941 1.286352941 1 0.901545723 0.901545723 1 0.969472441 0.969472441 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 4.43E-08 1 8.61E-10 1 2.05E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 51201291 C G - - - - - - 32 0 0 30 8 26.7 31 7 22.6 37 12 32.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.230235294 1.115117647 2 1.107333333 1.107333333 1 0.696472441 0.696472441 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.07E-12 1 1.85E-10 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 53921460 C G C6orf142 CCDS4954.1 r.? - - intronic 30 0 0 27 4 14.8 35 7 20 41 19 46.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.236235294 1.236235294 1 0.979941003 0.979941003 1 0.995267717 0.995267717 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00001 1 4.65E-10 1 4.2E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 54110587 C T C6orf142 CCDS4954.1 r.? - - intronic 37 0 0 22 4 18.2 27 4 14.8 34 8 23.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.520235294 1.520235294 1 0.725156342 0.725156342 1 0.50515748 0.50515748 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000425 1 0.00001 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 54169963 C T TINAG CCDS4955.1 r.? - - upstream 36 0 0 31 5 16.1 34 3 8.8 49 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.344823529 1.344823529 1 0.431174041 0.431174041 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 7 NA 1 1 0.000000476 1 0.000666058 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 56116124 A G COL21A1 ENST00000244728 r.? - - upstream 23 0 0 19 6 31.6 37 9 24.3 49 20 40.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.639529412 1.319764706 2 1.190628319 1.190628319 1 0.87703937 0.87703937 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 4.01E-10 1 2.14E-13 1 2.35E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 57607596 T A - - - - - - 58 0 0 63 5 7.9 94 4 4.3 116 18 15.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.659882353 0.659882353 1 0.253687316 0.253687316 1 0.476678127 0.476678127 1 NA NA 1 NA NA 0 NA NA 0 5 NA 1 1 0.0000173 1 0.001332441 1 1.35E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 57889451 T A - - - - - - 39 0 0 35 5 14.3 27 2 7.4 60 22 36.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.194470588 1.194470588 1 0.436578171 0.436578171 1 1.12865079 1.12865079 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.000000895 1 0.00807567 1 2.81E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 58507564 G C - - - - - - 29 0 0 28 6 21.4 41 10 24.4 42 19 45.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.787529412 1.787529412 1 1.439528024 1.439528024 1 0.971622047 0.971622047 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 5.36E-09 1 9.51E-15 1 7.64E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 62922949 C T KHDRBS2 CCDS4963.1 r.? - - intronic 28 0 0 37 4 10.8 33 6 18.2 63 19 30.2 0 0 NA 0 0 NA 0 0 NA 1 1 0 0 TRUE FALSE 0.794117647 0.794117647 1 1.073746313 1.073746313 1 0.951181102 0.951181102 1 NA NA 1 NA NA 1 0 0 1 9 NA 1 1 0.0000362 1 1.54E-08 1 9.48E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 62942924 C A KHDRBS2 CCDS4963.1 r.? - - intronic 23 0 0 30 7 23.3 34 7 20.6 65 18 27.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.713235294 1.713235294 1 1.215339233 1.215339233 1 0.872440945 0.872440945 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.44E-10 1 3.73E-10 1 1.52E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 63295630 T G - - - - - - 30 0 0 23 6 26.1 38 7 18.4 56 13 23.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.919117647 1.919117647 1 1.085545723 1.085545723 1 0.730708661 0.730708661 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.47E-09 1 8.61E-10 1 1.89E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 64954527 T G EYS CCDS47445.1 r.? - - intronic 32 0 0 31 4 12.9 35 5 14.3 58 16 27.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.948529412 0.948529412 1 0.843657817 0.843657817 1 0.869291339 0.869291339 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000177 1 0.000000895 1 1E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 67014167 A T - - - - - - 27 0 0 42 7 16.7 37 8 21.6 56 23 41.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 1.274336283 1.274336283 1 1.294488189 1.294488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.81E-09 1 1.33E-11 1 3.22E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 67552275 C T - - - - - - 25 0 0 41 6 14.6 33 7 21.2 56 19 33.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.073529412 1.073529412 1 1.250737463 1.250737463 1 1.067716535 1.067716535 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.05E-08 1 2.98E-10 1 6.79E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 67591467 T A - - - - - - 20 0 0 36 5 13.9 41 9 22 49 16 32.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.022058824 1.022058824 1 1.297935103 1.297935103 1 1.02992126 1.02992126 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000104 1 5.92E-13 1 4.37E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 67610996 G A - - - - - - 32 0 0 37 5 13.5 38 7 18.4 65 25 38.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.992647059 0.992647059 1 1.085545723 1.085545723 1 1.212598425 1.212598425 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000119 1 8.61E-10 1 1.6E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 68436302 A T - - - - - - 31 0 0 39 9 23.1 36 6 16.7 70 20 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.698529412 1.698529412 1 0.985250737 0.985250737 1 0.900787402 0.900787402 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.62E-13 1 2.68E-08 1 1.22E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 69105131 A G - - - - - - 29 0 0 40 4 10 36 5 13.9 59 19 32.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 0.820058997 0.820058997 1 1.014173228 1.014173228 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000495 1 0.00000104 1 2.2E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 69123568 A T - - - - - - 26 0 0 52 4 7.7 27 2 7.4 65 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.566176471 0.566176471 1 0.436578171 0.436578171 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.000139698 1 0.00807567 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 74249070 T C - - - - - - 34 0 0 25 1 4 29 3 10.3 42 5 11.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.254117647 0.254117647 1 0.504669617 0.504669617 1 0.25580315 0.25580315 1 NA NA 1 NA NA 1 NA NA 1 4 NA 1 1 0.117779757 1 0.000414371 1 0.00000228 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 71899305 A C - - - - - - 47 0 0 33 5 15.2 28 4 14.3 71 27 38 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.117647059 1.117647059 1 0.843657817 0.843657817 1 1.196850394 1.196850394 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 0.0000116 1 1.77E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 72466128 C T - - - - - - 32 0 0 44 7 15.9 40 2 5 62 18 29 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.169117647 1.169117647 1 0.294985251 0.294985251 1 0.913385827 0.913385827 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.55E-09 1 0.017193422 1 5.72E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 72668920 A T RIMS1 CCDS47449.1 r.? - - intronic 28 0 0 43 5 11.6 40 5 12.5 57 21 36.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.852941176 0.852941176 1 0.737463127 0.737463127 1 1.159055118 1.159055118 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000257 1 0.00000178 1 8.56E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 73145364 T C - - - - - - 30 0 0 29 6 20.7 30 6 20 59 16 27.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.522058824 1.522058824 1 1.179941003 1.179941003 1 0.853543307 0.853543307 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.72E-09 1 8.37E-09 1 1.37E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 74174294 G A MTO1 CCDS34485.1 r.? - - intronic 39 0 0 34 5 14.7 28 0 0 61 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.080882353 1.080882353 1 0 0 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.000000771 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 75290031 G T - - - - - - 40 0 0 30 4 13.3 53 9 17 71 23 32.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.977941176 0.977941176 1 1.002949853 1.002949853 1 1.020472441 1.020472441 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000154 1 7.1E-12 1 2.51E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 78418284 T A - - - - - - 29 0 0 36 9 25 38 6 15.8 75 25 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.838235294 1.838235294 1 0.932153392 0.932153392 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.63E-13 1 3.76E-08 1 1.23E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 81320072 A G - - - - - - 24 0 0 32 5 15.6 34 11 32.4 67 32 47.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.147058824 1.147058824 1 1.911504425 1.911504425 1 1.505511811 1.505511811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 1.26E-17 1 2.63E-55 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 172883938 C A - - - - - - 40 0 0 38 3 7.9 49 11 22.4 94 26 27.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.659882353 0.659882353 1 1.545533923 1.545533923 1 1.149440945 1.149440945 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000925091 1 1.19E-15 1 1.17E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 82365662 C T FAM46A ENST00000412306 r.? - - intronic 34 0 0 36 10 27.8 47 9 19.1 56 17 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.044117647 2.044117647 1 1.126843658 1.126843658 1 0.957480315 0.957480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.21E-15 1 2.24E-12 1 6.22E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 84043184 C A ME1 CCDS34492.1 r.? - - intronic 30 0 0 44 8 18.2 32 7 21.9 59 20 33.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.338235294 1.338235294 1 1.292035398 1.292035398 1 1.067716535 1.067716535 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.9E-11 1 2.36E-10 1 2.21E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 85120760 G T - - - - - - 25 0 0 27 5 18.5 25 5 20 60 17 28.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.360294118 1.360294118 1 1.179941003 1.179941003 1 0.891338583 0.891338583 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000023 1 0.000000153 1 2.41E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 85659049 C A - - - - - - 25 0 0 30 5 16.7 32 1 3.1 60 17 28.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 0.182890855 0.182890855 1 0.891338583 0.891338583 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 0.14819814 1 2.41E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 86355304 A T SYNCRIP CCDS5005.1 r.? - - upstream 25 0 0 41 4 9.8 45 6 13.3 73 25 34.2 1 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.720588235 0.720588235 1 0.784660767 0.784660767 1 1.077165354 1.077165354 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000546 1 0.000000108 1 5.49E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 89880622 T C - - - - - - 38 0 0 32 6 18.8 31 6 19.4 58 17 29.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.382352941 1.382352941 1 1.144542773 1.144542773 1 0.922834646 0.922834646 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.27E-08 1 1.03E-08 1 1.24E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 90485398 T G MDN1 CCDS5024.1 r.? - - intronic 26 0 0 41 6 14.6 40 7 17.5 64 23 35.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.073529412 1.073529412 1 1.032448378 1.032448378 1 1.130708661 1.130708661 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.05E-08 1 1.26E-09 1 1.44E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 91584877 T C - - - - - - 30 0 0 34 4 11.8 39 8 20.5 80 24 30 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.867647059 0.867647059 1 1.209439528 1.209439528 1 0.94488189 0.94488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 2.09E-11 1 7.39E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 93100699 A G - - - - - - 30 0 0 43 4 9.3 32 8 25 65 17 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.683823529 0.683823529 1 1.474926254 1.474926254 1 0.82519685 0.82519685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000066 1 3.69E-12 1 1.14E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 94690641 G C - - - - - - 37 0 0 34 7 20.6 39 10 25.6 75 17 22.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.514705882 1.514705882 1 1.510324484 1.510324484 1 0.71496063 0.71496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.73E-10 1 5.44E-15 1 1.72E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 95010505 G A - - - - - - 31 0 0 33 6 18.2 32 2 6.2 67 21 31.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.338235294 1.338235294 1 0.365781711 0.365781711 1 0.985826772 0.985826772 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.54E-08 1 0.011224977 1 4.96E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 95108810 A G - - - - - - 39 0 0 25 5 20 42 7 16.7 70 16 22.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 0.985250737 0.985250737 1 0.721259843 0.721259843 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000153 1 1.81E-09 1 2.93E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 96618695 T C FUT9 CCDS5033.1 r.? - - intronic 29 0 0 34 8 23.5 38 4 10.5 63 17 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.727941176 1.727941176 1 0.619469027 0.619469027 1 0.850393701 0.850393701 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.32E-12 1 0.0000403 1 6.22E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 99187015 G T - - - - - - 33 0 0 38 6 15.8 38 6 15.8 55 15 27.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.161764706 1.161764706 1 0.932153392 0.932153392 1 0.85984252 0.85984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.76E-08 1 3.76E-08 1 3.01E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 100154203 A T - - - - - - 30 0 0 32 6 18.8 28 7 25 64 20 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.382352941 1.382352941 1 1.474926254 1.474926254 1 0.982677165 0.982677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.27E-08 1 8.44E-11 1 1.52E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 100363315 C A MCHR2 CCDS5044.1 r.? - - downstream 29 0 0 36 5 13.9 44 11 25 64 17 26.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.022058824 1.022058824 1 1.474926254 1.474926254 1 0.837795276 0.837795276 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000104 1 3.22E-16 1 8.43E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 100415765 T C MCHR2 CCDS5044.1 r.? - - intronic 41 0 0 43 4 9.3 31 7 22.6 52 18 34.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.683823529 0.683823529 1 1.333333333 1.333333333 1 1.08976378 1.08976378 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000066 1 1.85E-10 1 1.39E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 101476807 G C - - - - - - 23 0 0 23 3 13 17 1 5.9 41 10 24.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.955882353 0.955882353 1 0.348082596 0.348082596 1 0.768503937 0.768503937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000205387 1 0.081683532 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 101701850 A G - - - - - - 24 0 0 27 5 18.5 35 5 14.3 73 30 41.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.360294118 1.360294118 1 0.843657817 0.843657817 1 1.294488189 1.294488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000023 1 0.000000895 1 2.11E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 102242501 C T GRIK2 CCDS5049.1 r.? - - intronic 27 0 0 31 4 12.9 33 6 18.2 67 15 22.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.948529412 0.948529412 1 1.073746313 1.073746313 1 0.705511811 0.705511811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000177 1 1.54E-08 1 8.27E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 102278243 T C GRIK2 CCDS5049.1 r.? - - intronic 31 0 0 35 5 14.3 24 2 8.3 63 15 23.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 0.489675516 0.489675516 1 0.749606299 0.749606299 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000895 1 0.006413403 1 2.97E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 103078489 T G - - - - - - 44 0 0 33 4 12.1 27 4 14.8 60 15 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 0.873156342 0.873156342 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 0.00001 1 1.31E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 103529700 T A - - - - - - 34 0 0 46 9 19.6 46 9 19.6 76 16 21.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.441176471 1.441176471 1 1.156342183 1.156342183 1 0.664566929 0.664566929 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.82E-12 1 1.82E-12 1 1.25E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 103899272 C T - - - - - - 24 0 0 37 4 10.8 33 5 15.2 57 15 26.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 0.896755162 0.896755162 1 0.828346457 0.828346457 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000362 1 0.00000066 1 5.53E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 107231873 G T MIR587 ENST00000384845 r.? - - upstream 34 0 0 42 6 14.3 39 3 7.7 66 12 18.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 0.454277286 0.454277286 1 0.573228346 0.573228346 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.02E-08 1 0.000998458 1 9.36E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 107745681 C G PDSS2 CCDS5059.1 r.? - - intronic 38 0 0 31 8 25.8 35 6 17.1 74 22 29.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.897058824 1.897058824 1 1.008849558 1.008849558 1 0.935433071 0.935433071 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.78E-12 1 2.24E-08 1 6.78E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 107989884 G C - - - - - - 29 0 0 22 4 18.2 15 1 6.7 54 16 29.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.338235294 1.338235294 1 0.395280236 0.395280236 1 0.932283465 0.932283465 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000425 1 0.072431031 1 2.69E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 108366956 T C OSTM1 CCDS5062.1 r.? - - intronic 28 0 0 31 8 25.8 42 5 11.9 51 17 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.897058824 1.897058824 1 0.702064897 0.702064897 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.78E-12 1 0.00000228 1 9.59E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 109647364 C G - - - - - - 24 0 0 42 5 11.9 44 10 22.7 67 23 34.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.875 0.875 1 1.339233038 1.339233038 1 1.080314961 1.080314961 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000228 1 2.08E-14 1 5.12E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 111462570 T C SLC16A10 CCDS5089.1 r.? - - intronic 21 0 0 31 5 16.1 34 7 20.6 70 22 31.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.183823529 1.183823529 1 1.215339233 1.215339233 1 0.988976378 0.988976378 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000476 1 3.73E-10 1 1.63E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 111730578 A T REV3L CCDS5091.2 r.? - - intronic 22 0 0 40 3 7.5 56 0 0 59 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.551470588 0.551470588 1 0 0 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.001075403 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 112046865 G A FYN CCDS5095.1 r.? - - intronic 20 0 0 32 5 15.6 36 2 5.6 65 17 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.147058824 1.147058824 1 0.330383481 0.330383481 1 0.82519685 0.82519685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 0.014070883 1 1.14E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 113056801 C T - - - - - - 25 0 0 34 4 11.8 33 4 12.1 62 21 33.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.867647059 0.867647059 1 0.713864307 0.713864307 1 1.067716535 1.067716535 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 0.0000228 1 7.22E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 113105287 C A - - - - - - 34 0 0 29 8 27.6 42 2 4.8 62 17 27.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.029411765 2.029411765 1 0.283185841 0.283185841 1 0.862992126 0.862992126 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.53E-12 1 0.018854633 1 4.56E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 113840426 T C - - - - - - 39 0 0 38 6 15.8 36 10 27.8 64 15 23.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.161764706 1.161764706 1 1.640117994 1.640117994 1 0.737007874 0.737007874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.76E-08 1 2.21E-15 1 3.87E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 115312623 G A - - - - - - 38 0 0 34 6 17.6 37 9 24.3 70 29 41.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.294117647 1.294117647 1 1.433628319 1.433628319 1 1.303937008 1.303937008 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.86E-08 1 2.14E-13 1 6.18E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 115605016 C A - - - - - - 26 0 0 44 6 13.6 24 2 8.3 80 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1 1 1 0.489675516 0.489675516 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 9.37E-08 1 0.006413403 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 116965982 C T ZUFSP CCDS5110.1 r.? - - intronic 35 0 0 23 4 17.4 45 6 13.3 62 22 35.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.279411765 1.279411765 1 0.784660767 0.784660767 1 1.118110236 1.118110236 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000513 1 0.000000108 1 6.75E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 118556901 T C SLC35F1 CCDS34524.1 r.? - - intronic 34 0 0 38 4 10.5 36 3 8.3 67 20 29.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.772058824 0.772058824 1 0.489675516 0.489675516 1 0.941732283 0.941732283 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000403 1 0.000788827 1 4.42E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 118683593 C T - - - - - - 34 0 0 29 4 13.8 30 2 6.7 57 15 26.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.014705882 1.014705882 1 0.395280236 0.395280236 1 0.828346457 0.828346457 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000134 1 0.009909649 1 5.53E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 118790518 C T C6orf204 CCDS43498.1 r.? - - intronic 26 0 0 33 5 15.2 35 5 14.3 70 20 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.117647059 1.117647059 1 0.843657817 0.843657817 1 0.900787402 0.900787402 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 0.000000895 1 1.22E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 118803963 T A C6orf204 CCDS43498.1 r.? - - intronic 29 0 0 27 3 11.1 41 4 9.8 71 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.578171091 0.578171091 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.000334187 1 0.0000546 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 118950567 T C C6orf204 CCDS43498.1 r.? - - intronic 27 0 0 35 6 17.1 53 5 9.4 85 34 40 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.257352941 1.257352941 1 0.554572271 0.554572271 1 1.25984252 1.25984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-08 1 0.00000734 1 2.79E-55 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 122270714 A G - - - - - - 22 0 0 28 5 17.9 33 6 18.2 71 23 32.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.316176471 1.316176471 1 1.073746313 1.073746313 1 1.020472441 1.020472441 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000279 1 1.54E-08 1 2.51E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 122713729 T C - - - - - - 29 0 0 42 4 9.5 32 5 15.6 71 21 29.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.698529412 0.698529412 1 0.920353982 0.920353982 1 0.932283465 0.932283465 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000601 1 0.000000562 1 2.05E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 122822745 G A SERINC1 CCDS5125.1 r.? - - intronic 41 0 0 27 5 18.5 28 2 7.1 71 20 28.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.360294118 1.360294118 1 0.418879056 0.418879056 1 0.888188976 0.888188976 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000023 1 0.008668191 1 1.68E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 124803745 G A NKAIN2 CCDS34526.1 r.? - - intronic 34 0 0 40 8 20 33 4 12.1 71 18 25.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 0.713864307 0.713864307 1 0.8 0.8 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.61E-11 1 0.0000228 1 9.22E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 126250399 A T NCOA7 CCDS5132.1 r.3663a>u c.? p.? 3'UTR variant 38 0 0 83 11 13.3 131 14 10.7 346 57 16.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.706941176 0.902313725 3 2.283315605 0.891813267 2.560306838 2.664685039 0.888228346 3 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 5.66E-13 1 8.65E-15 1 1.66E-66 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 126657754 A T C6orf173 CCDS34529.1 r.? - - upstream 42 0 0 80 5 6.2 112 13 11.6 326 22 6.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.261882353 1.261882353 1 2.475370189 0.966825598 2.560306838 1.082023622 1.082023622 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000055 1 2.62E-14 1 4.68E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 127424496 C T - - - - - - 22 0 0 115 7 6.1 141 6 4.3 378 21 5.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.241529412 1.241529412 1 0.917594122 0.917594122 1 0.904377953 0.904377953 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00000214 1 0.000086 1 1.29E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 127778417 G A C6orf174 CCDS34531.1 r.? - - intronic 37 0 0 100 8 8 139 9 6.5 341 30 8.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.628235294 1.628235294 1 1.387060882 1.387060882 1 1.421165354 0.710582677 2 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 4.83E-08 1 4.46E-08 1 2.01E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 128129216 C T THEMIS CCDS34534.1 r.? - - intronic 34 0 0 100 8 8 116 6 5.2 392 24 6.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.628235294 1.628235294 1 1.109648705 1.109648705 1 0.985125984 0.985125984 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 4.83E-08 1 0.000029 1 1.39E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 128735079 A T PTPRK CCDS47473.1 r.? - - intronic 34 0 0 106 13 12.3 126 11 8.7 339 39 11.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.503411765 0.834470588 3 1.856527641 0.928263821 2 1.857204724 0.928602362 2 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 1.26E-14 1 5.85E-11 1 1.01E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 128919678 C T - - - - - - 40 0 0 105 24 22.9 130 38 29.2 357 103 28.9 0 0 NA 0 0 NA 2 0 0 1 0 0 NA FALSE FALSE 4.660823529 0.932164706 5 NA NA 1 1.77723622 0.88861811 2 NA NA 1 NA NA 1 NA NA 0 NA NA 1 1 1.21E-32 1 2.31E-55 1 1.85E-146 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 129093922 G T - - - - - - 31 0 0 50 4 8 45 4 8.9 138 25 18.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.828235294 0.828235294 1 0.792073746 0.792073746 1 1.11307874 1.11307874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000119787 1 0.0000791 1 3.46E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 129249881 C G LAMA2 CCDS5138.1 r.? - - intronic 46 0 0 47 6 12.8 68 2 2.9 129 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.325176471 1.325176471 1 0.258091445 0.258091445 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.000000141 1 0.045825786 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 129262100 A C LAMA2 CCDS5138.1 r.? - - intronic 31 0 0 48 7 14.6 41 6 14.6 134 16 11.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.511529412 1.511529412 1 1.299356932 1.299356932 1 0.73180315 0.73180315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.81E-09 1 6.05E-08 1 1.78E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 130137832 C T - - - - - - 44 0 0 49 5 10.2 67 6 9 118 14 11.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.056 1.056 1 0.800973451 0.800973451 1 0.73180315 0.73180315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000496 1 0.0000012 1 1.96E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 130405768 T A L3MBTL3 CCDS34537.1 r.? - - intronic 36 0 0 57 6 10.5 49 5 10.2 131 26 19.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.087058824 1.087058824 1 0.907769912 0.907769912 1 1.217622047 1.217622047 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000456 1 0.00000496 1 1.74E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 131954624 T A ENPP3 CCDS5148.1 r.? - - intronic 28 0 0 54 6 11.1 60 8 13.3 138 15 10.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.149176471 1.149176471 1 1.183660767 1.183660767 1 0.670307087 0.670307087 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000329 1 7.93E-10 1 7.46E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 6882675 T C - - - - - - 33 0 0 51 6 11.8 53 1 1.9 173 0 0 86 0 0 144 5 3.5 178 5 2.8 0.034192728 248 1 0.4 TRUE TRUE 1.457647059 1.457647059 1 0.181138681 0.181138681 1 0 0 1 0.432352941 0.432352941 1 0.266941214 0.421102849 0.63390978 0.02506673 0.02506673 1 8 7 1 1 0.000000232 0.000845499 0.233303855 0.002152011 1 0.711514476 YES 1_1 0_1 0_0 somatic custom.pulldown.HiSeq PD9777b 6 132984650 A T - - - - - - 31 0 0 61 10 16.4 62 7 11.3 121 29 24 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.697882353 1.697882353 1 1.005666667 1.005666667 1 1.475905512 0.737952756 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.98E-13 1 3.02E-08 1 8.78E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 132989005 A G - - - - - - 23 0 0 53 6 11.3 64 11 17.2 129 21 16.3 0 0 NA 0 0 NA 3 0 0 1 2 0 0 TRUE FALSE 1.169882353 1.169882353 1 1.530749263 1.530749263 1 1.002385827 1.002385827 1 NA NA 1 0 0 1 0 0 1 9 NA 1 1 0.000000293 1 2.85E-14 1 2.09E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 133209536 C T - - - - - - 38 0 0 64 12 18.8 54 10 18.5 169 36 21.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.946352941 0.973176471 2 1.646445428 1.646445428 1 1.309866142 1.309866142 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.3E-16 1 1.91E-13 1 5.87E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 133220053 T C - - - - - - 30 0 0 74 5 6.8 84 4 4.8 137 19 13.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.704 0.704 1 0.427185841 0.427185841 1 0.854795276 0.854795276 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.0000378 1 0.000877031 1 9.57E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 133371256 A C - - - - - - 31 0 0 54 9 16.7 59 11 18.6 170 37 21.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.728941176 1.728941176 1 1.655345133 1.655345133 1 1.340614173 0.670307087 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.48E-12 1 1.1E-14 1 1.35E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 133519304 C A - - - - - - 33 0 0 44 12 27.3 79 45 57 177 121 68.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.826352941 0.942117647 3 5.072831858 1.268207965 4 4.206330709 1.051582677 4 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.44E-18 1 6.09E-82 1 1.73E-232 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 134511300 T C SGK1 CCDS47476.1 r.? - - intronic 27 0 0 57 6 10.5 38 8 21.1 146 28 19.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.087058824 1.087058824 1 1.877837758 0.938918879 2 1.180724409 1.180724409 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000456 1 1.67E-11 1 1.73E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 135166269 C T - - - - - - 34 0 0 42 8 19 17 1 5.9 115 26 22.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.967058824 0.983529412 2 0.525082596 0.525082596 1 1.389811024 0.694905512 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.96E-11 1 0.081683532 1 4.26E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 135286189 C G HBS1L CCDS5173.1 r.2476g>c c.? p.? 3'UTR variant 30 0 0 58 7 12.1 52 5 9.6 133 26 19.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.252705882 1.252705882 1 0.854371681 0.854371681 1 1.199173228 1.199173228 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.88E-08 1 0.00000668 1 2.67E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 136696180 C T MAP7 CCDS5178.1 r.? - - intronic 27 0 0 26 5 19.2 45 6 13.3 68 20 29.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.603764706 1.603764706 1 0.917660767 0.917660767 1 1.219984252 1.219984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000188 1 0.000000108 1 6.23E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 136819478 T C MAP7 CCDS5178.1 r.? - - intronic 27 0 0 40 5 12.5 42 4 9.5 80 13 16.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.044117647 1.044117647 1 0.655471976 0.655471976 1 0.67223622 0.67223622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000178 1 0.0000601 1 2.82E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 139482657 T G HECA CCDS5194.1 r.? - - intronic 29 0 0 44 13 29.5 37 10 27 79 38 48.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.464117647 1.232058824 2 1.862920354 0.931460177 2 1.99596063 0.997980315 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.49E-20 1 3.01E-15 1 1.52E-65 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 140908200 C A - - - - - - 27 0 0 36 4 11.1 51 10 19.6 97 22 22.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.927176471 0.927176471 1 1.352342183 1.352342183 1 0.94196063 0.94196063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000324 1 1.04E-13 1 5.74E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 143050080 T C - - - - - - 20 0 0 22 5 22.7 43 6 14 90 23 25.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.896117647 1.896117647 1 0.965958702 0.965958702 1 1.062299213 1.062299213 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.67E-08 1 8.13E-08 1 1.36E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 144640872 T G UTRN CCDS34547.1 r.? - - intronic 32 0 0 33 4 12.1 23 5 21.7 75 24 32 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.010705882 1.010705882 1 1.497235988 1.497235988 1 1.327874016 1.327874016 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 9.75E-08 1 1.2E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 147487611 C T - - - - - - 37 0 0 37 4 10.8 42 11 26.2 85 15 17.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.902117647 0.902117647 1 1.807722714 0.903861357 2 0.730330709 0.730330709 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000362 1 1.81E-16 1 3.95E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 148746975 C G SASH1 CCDS5212.1 r.? - - intronic 19 0 0 26 6 23.1 13 1 7.7 55 14 25.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.929529412 1.929529412 1 0.531277286 0.531277286 1 1.058149606 1.058149606 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.3E-09 1 0.063085307 1 2.19E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 150193081 G A - - - - - - 28 0 0 40 7 17.5 48 8 16.7 78 19 24.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.461764706 1.461764706 1 1.152250737 1.152250737 1 1.012503937 1.012503937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.26E-09 1 1.23E-10 1 9.67E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 151898440 G A C6orf97 CCDS43515.1 r.? - - intronic 31 0 0 34 7 20.6 29 3 10.3 74 15 20.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.720705882 1.720705882 1 0.710669617 0.710669617 1 0.842370079 0.842370079 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.73E-10 1 0.000414371 1 4.22E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 152882706 A G SYNE1 CCDS5236.1 r.? - - intronic 44 0 0 35 10 28.6 41 14 34.1 82 41 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.388941176 1.194470588 2 2.35279941 1.176399705 2 2.07480315 1.037401575 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.6E-15 1 1.9E-22 1 1.58E-71 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 153484754 T A - - - - - - 32 0 0 44 4 9.1 38 2 5.3 81 16 19.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.760117647 0.760117647 1 0.365684366 0.365684366 1 0.821622047 0.821622047 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000723 1 0.015598339 1 3.77E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 153806935 C T - - - - - - 30 0 0 42 8 19 47 13 27.7 93 20 21.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.587058824 1.587058824 1 1.911218289 0.955609145 2 0.892165354 0.892165354 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.96E-11 1 1.47E-19 1 7.16E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 154329525 C A OPRM1 CCDS47503.1 r.? - - upstream 43 0 0 45 18 40 58 18 31 70 29 41.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.341176471 1.670588235 2 2.138908555 1.069454277 2 1.717937008 0.858968504 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.76E-30 1 1.42E-27 1 6.18E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 154355957 C T OPRM1 CCDS47503.1 r.? - - intronic 33 0 0 56 7 12.5 40 6 15 79 18 22.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.044117647 1.044117647 1 1.034955752 1.034955752 1 0.946110236 0.946110236 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.46E-08 1 5.18E-08 1 7.86E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 154944321 C T - - - - - - 27 0 0 40 10 25 30 6 20 77 15 19.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.088235294 1.044117647 2 1.379941003 1.379941003 1 0.809173228 0.809173228 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.22E-15 1 8.37E-09 1 8.05E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 155001490 C T - - - - - - 30 0 0 33 5 15.2 48 10 20.8 94 23 24.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.269647059 1.269647059 1 1.435138643 1.435138643 1 1.016653543 1.016653543 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 5.37E-14 1 4.19E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 155658848 C T - - - - - - 29 0 0 39 10 25.6 25 10 40 83 30 36.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.138352941 1.069176471 2 2.759882006 1.379941003 2 1.498007874 0.749003937 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.44E-15 1 2.98E-17 1 2.51E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 156514274 G A - - - - - - 32 0 0 42 6 14.3 44 6 13.6 80 21 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.194470588 1.194470588 1 0.938359882 0.938359882 1 1.08719685 1.08719685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.02E-08 1 9.37E-08 1 3.63E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 158383110 C T - - - - - - 20 0 0 34 6 17.6 34 2 5.9 83 20 24.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470117647 1.470117647 1 0.407082596 0.407082596 1 1.000055118 1.000055118 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.86E-08 1 0.012612579 1 5.78E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 158751547 A C TULP4 CCDS34561.1 r.? - - intronic 32 0 0 56 5 8.9 52 11 21.2 84 20 23.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.743411765 0.743411765 1 1.462737463 1.462737463 1 0.987606299 0.987606299 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000965 1 2.44E-15 1 7.54E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 160315376 G A - - - - - - 29 0 0 40 6 15 24 4 16.7 78 17 21.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.252941176 1.252941176 1 1.152250737 1.152250737 1 0.904614173 0.904614173 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.18E-08 1 0.00000613 1 3.59E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 162635574 C G PARK2 CCDS5281.1 r.? - - intronic 37 0 0 37 6 16.2 43 5 11.6 83 27 32.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.353176471 1.353176471 1 0.800365782 0.800365782 1 1.348622047 0.674311024 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.18E-08 1 0.00000257 1 2.9E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 162772308 G C PARK2 CCDS5281.1 r.? - - intronic 38 0 0 36 4 11.1 34 3 8.8 107 27 25.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.927176471 0.927176471 1 0.607174041 0.607174041 1 1.045700787 1.045700787 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000324 1 0.000666058 1 7.97E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 163521126 C A PACRG CCDS43524.1 r.? - - intronic 10 0 0 27 6 22.2 2 1 50 55 29 52.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.854352941 1.854352941 1 3.449852507 3.449852507 1 2.18684252 1.09342126 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.23E-09 1 0.009975 1 5.85E-52 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 163671958 A C PACRG CCDS43524.1 r.? - - intronic 32 0 0 38 4 10.5 35 3 8.6 76 21 27.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.877058824 0.877058824 1 0.593374631 0.593374631 1 1.145291339 1.145291339 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000403 1 0.000725791 1 1.07E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 164170440 C T - - - - - - 21 0 0 21 5 23.8 14 4 28.6 36 14 38.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.988 1.988 1 1.973315634 1.973315634 1 0.83619685 0.83619685 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 5.95E-08 1 0.000000601 1 2.09E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 164799344 T A - - - - - - 26 0 0 40 5 12.5 33 6 18.2 31 13 41.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.044117647 1.044117647 1 1.255746313 1.255746313 1 0.900685039 0.900685039 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000178 1 1.54E-08 1 2.32E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 164845473 G T - - - - - - 28 0 0 34 8 23.5 42 6 14.3 52 25 48.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.962941176 0.981470588 2 0.700657817 0.700657817 1 1.03396063 1.03396063 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 6.32E-12 1 7.02E-08 1 1.25E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 165006935 A G ENSG00000237744 ENST00000425920 r.? - - intronic 31 0 0 20 4 20 34 4 11.8 43 19 44.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.670588235 1.670588235 1 0.578165192 0.578165192 1 0.950125984 0.950125984 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.00000284 1 0.0000257 1 1.36E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 165132196 G A - - - - - - 41 0 0 22 5 22.7 35 4 11.4 51 25 49 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.896117647 1.896117647 1 0.558566372 0.558566372 1 1.053307087 1.053307087 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 7.67E-08 1 0.0000289 1 6.52E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 165999059 C A PDE10A CCDS5289.1 r.? - - intronic 20 0 0 36 5 13.9 30 4 13.3 44 18 40.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.161058824 1.161058824 1 0.651660767 0.651660767 1 0.879188976 0.879188976 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000104 1 0.0000154 1 3.47E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 573761 C T - - - - - - 23 0 0 35 6 17.1 24 1 4.2 63 18 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.257352941 1.257352941 1 0.186546448 NA 0 0.900787402 0.900787402 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 2.24E-08 1 0.113346489 1 7.98E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 1692903 C T ENSG00000224268 ENST00000436115 r.? - - intronic 27 0 0 25 7 28 9 3 33.3 72 17 23.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.058823529 2.058823529 1 1.479046839 1.479046839 1 0.743307087 0.743307087 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.47E-11 1 0.0000103 1 7.97E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 5204703 T C - - - - - - 32 0 0 34 5 14.7 13 2 15.4 58 20 34.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.080882353 1.080882353 1 0.908554572 0.908554572 1 1.086614173 1.086614173 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000771 1 0.001879825 1 1.47E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 5781567 A T RNF216 CCDS34595.1 r.? - - intronic 44 0 0 41 6 14.6 35 9 25.7 76 23 30.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.073529412 1.073529412 1 1.516224189 1.516224189 1 0.954330709 0.954330709 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.05E-08 1 1.23E-13 1 1.58E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 7325890 C G - - - - - - 31 0 0 36 9 25 37 10 27 54 18 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.838235294 1.838235294 1 1.592920354 1.592920354 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.63E-13 1 3.01E-15 1 3.12E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 7348715 C G - - - - - - 33 0 0 25 4 16 47 8 17 60 18 30 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.176470588 1.176470588 1 1.002949853 1.002949853 1 0.94488189 0.94488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000727 1 1.03E-10 1 2.89E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 8127462 G C GLCCI1 CCDS34601.1 r.3495g>c c.? p.? 3'UTR variant 33 0 0 45 5 11.1 40 8 20 58 18 31 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 1.179941003 1.179941003 1 0.976377953 0.976377953 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000323 1 2.61E-11 1 1.42E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 9067607 A G - - - - - - 35 0 0 32 4 12.5 40 8 20 68 16 23.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 1.179941003 1.179941003 1 0.74015748 0.74015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 2.61E-11 1 1.75E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 9571454 C G - - - - - - 31 0 0 34 4 11.8 45 10 22.2 57 16 28.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.867647059 0.867647059 1 1.309734513 1.309734513 1 0.88503937 0.88503937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 2.66E-14 1 7.28E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 10128266 G T - - - - - - 34 0 0 35 5 14.3 43 10 23.3 62 16 25.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 1.374631268 1.374631268 1 0.812598425 0.812598425 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000895 1 1.61E-14 1 3.36E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 13305181 T C - - - - - - 36 0 0 36 6 16.7 29 4 13.8 56 22 39.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 0.814159292 0.814159292 1 1.237795276 1.237795276 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.68E-08 1 0.0000134 1 4.34E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 14765826 G A DGKB CCDS47547.1 r.? - - intronic 35 0 0 38 8 21.1 21 2 9.5 57 21 36.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.551470588 1.551470588 1 0.560471976 0.560471976 1 1.159055118 1.159055118 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.67E-11 1 0.004928472 1 8.56E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 17880102 G C SNX13 CCDS47551.1 r.? - - intronic 20 0 0 34 4 11.8 44 8 18.2 70 21 30 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.867647059 0.867647059 1 1.073746313 1.073746313 1 0.94488189 0.94488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 5.9E-11 1 1.45E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 18342906 T A HDAC9 ENST00000433709 r.? - - intronic 22 0 0 24 6 25 10 1 10 47 13 27.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.838235294 1.838235294 1 0.589970501 0.589970501 1 0.872440945 0.872440945 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.95E-09 1 0.04888987 1 1.47E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 18823581 A G HDAC9 CCDS47554.1 r.? - - intronic 29 0 0 41 5 12.2 47 9 19.1 63 18 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.897058824 0.897058824 1 1.126843658 1.126843658 1 0.900787402 0.900787402 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000202 1 2.24E-12 1 7.98E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 185544099 C A IGF2BP2 CCDS3273.2 r.? - - upstream 27 0 0 19 5 26.3 6 2 33.3 66 35 53 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.196823529 2.196823529 1 2.29760177 2.29760177 1 2.199291339 1.099645669 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.43E-08 1 0.000370028 1 1.6E-62 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 19199334 A T - - - - - - 25 0 0 30 5 16.7 35 7 20 68 19 27.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 1.179941003 1.179941003 1 0.878740157 0.878740157 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 4.65E-10 1 5.06E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 19390228 A T - - - - - - 39 0 0 43 5 11.6 36 5 13.9 77 26 33.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.852941176 0.852941176 1 0.820058997 0.820058997 1 1.064566929 1.064566929 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000257 1 0.00000104 1 2.7E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 20927464 C G - - - - - - 20 0 0 33 4 12.1 33 6 18.2 70 15 21.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 1.073746313 1.073746313 1 0.674015748 0.674015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 1.54E-08 1 1.7E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 21107000 C A - - - - - - 34 0 0 38 6 15.8 29 2 6.9 59 19 32.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.161764706 1.161764706 1 0.407079646 0.407079646 1 1.014173228 1.014173228 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.76E-08 1 0.009279585 1 2.2E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 21302911 G A - - - - - - 34 0 0 33 4 12.1 40 9 22.5 54 22 40.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 1.327433628 1.327433628 1 1.281889764 1.281889764 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 4.64E-13 1 1.6E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 21774638 A G DNAH11 ENST00000424253 r.? - - intronic 25 0 0 30 6 20 21 4 19 51 16 31.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 1.120943953 1.120943953 1 0.988976378 0.988976378 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.37E-09 1 0.00000349 1 9.28E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 24335864 C A NPY CCDS5387.1 r.? - - downstream 48 0 0 28 6 21.4 35 11 31.4 59 17 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.573529412 1.573529412 1 1.852507375 1.852507375 1 0.907086614 0.907086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.36E-09 1 1.82E-17 1 1.74E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 25795590 G C - - - - - - 33 0 0 35 6 17.1 14 1 7.1 58 21 36.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.257352941 1.257352941 1 0.418879056 0.418879056 1 1.14015748 1.14015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-08 1 0.067769881 1 1.34E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 26022521 A G - - - - - - 34 0 0 35 8 22.9 43 5 11.6 69 22 31.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.683823529 1.683823529 1 0.684365782 0.684365782 1 1.004724409 1.004724409 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.15E-12 1 0.00000257 1 1.12E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 26255211 G A CBX3 CCDS5398.1 r.? - - downstream 28 0 0 38 6 15.8 30 4 13.3 71 23 32.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.161764706 1.161764706 1 0.784660767 0.784660767 1 1.020472441 1.020472441 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.76E-08 1 0.0000154 1 2.51E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 29298887 G A CHN2 CCDS5420.1 r.? - - intronic 31 0 0 30 6 20 32 8 25 53 16 30.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 1.474926254 1.474926254 1 0.951181102 0.951181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.37E-09 1 3.69E-12 1 1.9E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 30032198 G A SCRN1 CCDS5422.1 r.? - - upstream 31 0 0 40 6 15 29 4 13.8 76 27 35.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.102941176 1.102941176 1 0.814159292 0.814159292 1 1.118110236 1.118110236 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.18E-08 1 0.0000134 1 1.67E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 30228967 T G - - - - - - 39 0 0 42 9 21.4 32 4 12.5 73 17 23.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.573529412 1.573529412 1 0.737463127 0.737463127 1 0.733858268 0.733858268 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.51E-13 1 0.0000201 1 1.03E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 32353989 C T - - - - - - 37 0 0 36 5 13.9 42 6 14.3 49 12 24.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.022058824 1.022058824 1 0.843657817 0.843657817 1 0.771653543 0.771653543 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000104 1 7.02E-08 1 1.9E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 32477175 C G - - - - - - 35 0 0 30 6 20 39 4 10.3 51 11 21.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 0.607669617 0.607669617 1 0.680314961 0.680314961 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.37E-09 1 0.0000447 1 1.94E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 32817514 G A AVL9 ENST00000404479 r.? - - intronic 33 0 0 37 6 16.2 39 5 12.8 68 24 35.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.191176471 1.191176471 1 0.755162242 0.755162242 1 1.111811024 1.111811024 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.18E-08 1 0.00000156 1 7.25E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 34110836 C T BMPER CCDS5442.1 r.? - - intronic 36 0 0 39 6 15.4 38 11 28.9 63 23 36.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.132352941 1.132352941 1 1.705014749 1.705014749 1 1.149606299 1.149606299 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.43E-08 1 5.19E-17 1 9.25E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 35256664 A G TBX20 CCDS43568.1 r.? - - intronic 47 0 0 40 4 10 35 4 11.4 61 18 29.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 0.672566372 0.672566372 1 0.929133858 0.929133858 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000495 1 0.0000289 1 4.08E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 36585921 C A AOAH CCDS5448.1 r.? - - intronic 33 0 0 48 6 12.5 43 7 16.3 62 17 27.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 0.961651917 0.961651917 1 0.862992126 0.862992126 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000016 1 2.15E-09 1 4.56E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 37018848 C G ELMO1 CCDS5449.1 r.? - - intronic 37 0 0 42 4 9.5 47 6 12.8 58 20 34.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.698529412 0.698529412 1 0.755162242 0.755162242 1 1.086614173 1.086614173 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000601 1 0.000000141 1 1.47E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 38701473 C T - - - - - - 34 0 0 38 4 10.5 33 9 27.3 53 17 32.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.772058824 0.772058824 1 1.610619469 1.610619469 1 1.011023622 1.011023622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000403 1 6.76E-14 1 2.08E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 39082058 G A POU6F2 CCDS34620.2 r.? - - intronic 35 0 0 32 4 12.5 34 3 8.8 73 22 30.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 0.519174041 0.519174041 1 0.948031496 0.948031496 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 0.000666058 1 4.79E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 41827650 A C - - - - - - 35 0 0 39 5 12.8 34 7 20.6 68 17 25 1 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.941176471 0.941176471 1 1.215339233 1.215339233 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000156 1 3.73E-10 1 2.69E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 41922710 C T - - - - - - 34 0 0 31 4 12.9 23 4 17.4 56 19 33.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.948529412 0.948529412 1 1.026548673 1.026548673 1 1.067716535 1.067716535 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000177 1 0.00000513 1 6.79E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 43771469 T A C7orf44 CCDS5471.1 r.? - - upstream 39 0 0 36 3 8.3 30 4 13.3 56 20 35.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.610294118 0.610294118 1 0.784660767 0.784660767 1 1.124409449 1.124409449 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000788827 1 0.0000154 1 6.31E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 44228745 C T GCK CCDS5479.1 r.278g>a c.? p.? 5'UTR variant 28 0 0 36 9 25 6 0 0 51 18 35.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.838235294 1.838235294 1 0 0 1 1.111811024 1.111811024 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.63E-13 1 1 1 9.1E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 65748690 C T DPP8 CCDS10207.1 r.3620g>a c.2039G>A p.R680Q missense 24 0 0 30 1 3.3 43 7 16.3 71 28 39.4 111 0 0 194 14 7.2 237 29 12.2 1.86E-22 197 67 34 TRUE TRUE 0.242647059 0.242647059 1 0.961651917 0.961651917 1 1.240944882 1.240944882 1 0.529411765 0.529411765 1 0.719764012 0.719764012 1 1.070866142 1.070866142 1 9 11 1 1 0.139615808 2E-12 2.15E-09 9.51E-31 1.4E-45 1.51E-101 YES 0_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 7 44990544 A T - - - - - - 32 0 0 36 3 8.3 44 3 6.8 64 20 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.610294118 0.610294118 1 0.401179941 0.401179941 1 0.982677165 0.982677165 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.000788827 1 0.00142027 1 1.52E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 45270500 G A - - - - - - 34 0 0 34 5 14.7 13 2 15.4 65 21 32.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.080882353 1.080882353 1 0.908554572 0.908554572 1 1.017322835 1.017322835 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000771 1 0.001879825 1 2.35E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 45972854 C T - - - - - - 36 0 0 40 7 17.5 45 7 15.6 69 26 37.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.286764706 1.286764706 1 0.920353982 0.920353982 1 1.187401575 1.187401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.26E-09 1 0.000000003 1 8.5E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 47748461 A C - - - - - - 34 0 0 31 3 9.7 21 0 0 60 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.713235294 0.713235294 1 0 0 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.000505952 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 48262372 G A ABCA13 CCDS47584.1 r.? - - intronic 22 0 0 29 7 24.1 43 11 25.6 52 19 36.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.772058824 1.772058824 1 1.510324484 1.510324484 1 1.149606299 1.149606299 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.11E-10 1 2.42E-16 1 1.24E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 49071774 A T - - - - - - 28 0 0 37 5 13.5 43 9 20.9 61 18 29.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.992647059 0.992647059 1 1.233038348 1.233038348 1 0.929133858 0.929133858 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000119 1 9.45E-13 1 4.08E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 196305186 G A FBXO45 CCDS46985.1 r.? - - intronic 35 0 0 35 3 8.6 40 5 12.5 78 29 37.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.718352941 0.718352941 1 0.862463127 0.862463127 1 1.543653543 0.771826772 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000725791 1 0.00000178 1 3.09E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 51893511 G A - - - - - - 42 0 0 35 4 11.4 38 3 7.9 78 35 44.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838235294 0.838235294 1 0.466076696 0.466076696 1 1.414173228 1.414173228 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000289 1 0.000925091 1 4.28E-59 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 52033510 G T - - - - - - 29 0 0 37 5 13.5 35 4 11.4 62 14 22.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.992647059 0.992647059 1 0.672566372 0.672566372 1 0.711811024 0.711811024 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000119 1 0.0000289 1 1.42E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 52315498 C A - - - - - - 30 0 0 38 6 15.8 33 1 3 63 22 34.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.161764706 1.161764706 1 0.17699115 0.17699115 1 1.099212598 1.099212598 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.76E-08 1 0.15245715 1 1.03E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 52699669 C A - - - - - - 35 0 0 37 8 21.6 37 4 10.8 65 23 35.4 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.588235294 1.588235294 1 0.637168142 0.637168142 1 1.11496063 1.11496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.33E-11 1 0.0000362 1 2.21E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 54427900 A T - - - - - - 53 0 0 22 4 18.2 38 4 10.5 66 22 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.338235294 1.338235294 1 0.619469027 0.619469027 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000425 1 0.0000403 1 3.52E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 54503463 T C - - - - - - 28 0 0 37 8 21.6 45 9 20 56 17 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.588235294 1.588235294 1 1.179941003 1.179941003 1 0.957480315 0.957480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.33E-11 1 1.47E-12 1 6.22E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 56363987 T C - - - - - - 23 0 0 32 4 12.5 28 4 14.3 60 21 35 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 0.843657817 0.843657817 1 1.102362205 1.102362205 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 0.0000116 1 3.16E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 56467313 C T - - - - - - 31 0 0 40 7 17.5 40 10 25 60 16 26.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.286764706 1.286764706 1 1.474926254 1.474926254 1 0.840944882 0.840944882 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.26E-09 1 7.22E-15 1 1.86E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 57873748 G C - - - - - - 32 0 0 35 6 17.1 35 5 14.3 64 18 28.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.257352941 1.257352941 1 0.843657817 0.843657817 1 0.88503937 0.88503937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-08 1 0.000000895 1 1.1E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 101421352 G A ENTPD7 CCDS7480.1 r.336g>a c.158G>A p.S53N missense 28 0 0 43 7 16.3 42 11 26.2 41 22 53.7 140 2 1.4 279 69 24.7 372 64 17.2 3.87E-57 306 139 45.4 TRUE TRUE 1.035529412 1.035529412 1 1.283722714 1.283722714 1 1.154338583 1.154338583 1 1.569176471 1.569176471 1 0.842749263 0.842749263 1 0.97592126 0.97592126 1 9 12 1 0.155542249 2.15E-09 1.99E-93 1.81E-16 9.66E-76 5.33E-40 1.03E-230 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 7 64487697 G T - - - - - - 31 0 0 29 5 17.2 37 6 16.2 62 27 43.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.264705882 1.264705882 1 0.955752212 0.955752212 1 1.37007874 1.37007874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000336 1 3.18E-08 1 1.76E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 68771072 G A - - - - - - 36 0 0 37 6 16.2 39 11 28.2 54 21 38.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.191176471 1.191176471 1 1.663716814 1.663716814 1 1.22519685 1.22519685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.18E-08 1 7.2E-17 1 2.12E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 69781832 G A AUTS2 CCDS5539.1 r.? - - intronic 22 0 0 36 4 11.1 31 5 16.1 82 30 36.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.949852507 0.949852507 1 1.38415613 0.84800963 1.632241051 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000324 1 0.000000476 1 1.61E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 71077420 C T WBSCR17 CCDS5540.1 r.? - - intronic 36 0 0 37 4 10.8 41 9 22 79 16 20.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 1.297935103 1.297935103 1 0.639370079 0.639370079 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000362 1 5.92E-13 1 2.45E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 71759976 C T CALN1 CCDS47603.1 r.? - - intronic 30 0 0 37 4 10.8 26 4 15.4 75 29 38.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 0.908554572 0.908554572 1 1.218897638 1.218897638 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000362 1 0.00000856 1 7.6E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 72830125 C T - - - - - - 22 0 0 27 7 25.9 25 3 12 98 42 42.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.904411765 1.904411765 1 0.707964602 0.707964602 1 1.351181102 1.351181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.36E-11 1 0.00026475 1 1.63E-69 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 73079639 A T VPS37D CCDS43596.1 r.? - - upstream 21 0 0 28 4 14.3 32 8 25 46 11 23.9 0 0 NA 0 0 NA 2 0 0 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 1.474926254 1.474926254 1 0.752755906 0.752755906 1 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 0.0000116 1 3.69E-12 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 73347808 C T - - - - - - 28 0 0 27 6 22.2 27 3 11.1 60 19 31.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.632352941 1.632352941 1 0.654867257 0.654867257 1 0.998425197 0.998425197 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.23E-09 1 0.000334187 1 3.21E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 197115802 C T - - - - - - 36 1 2.8 47 13 27.7 44 9 20.5 102 44 43.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.313764706 1.156882353 2 1.414439528 1.414439528 1 1.788480315 0.894240157 2 NA NA 1 NA NA 1 NA NA 1 9 NA 0.165106833 1 1.47E-19 1 1.18E-12 1 6.58E-73 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 76230835 T G - - - - - - 25 0 0 16 5 31.2 32 5 15.6 41 15 36.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.294117647 2.294117647 1 0.920353982 0.920353982 1 1.152755906 1.152755906 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000013 1 0.000000562 1 1.71E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 79986604 C T - - - - - - 29 0 0 36 4 11.1 29 6 20.7 65 28 43.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 1.221238938 1.221238938 1 1.357480315 1.357480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000324 1 6.72E-09 1 6.12E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 81056007 G C - - - - - - 35 0 0 38 5 13.2 35 6 17.1 56 17 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.970588235 0.970588235 1 1.008849558 1.008849558 1 0.957480315 0.957480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000137 1 2.24E-08 1 6.22E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 82802050 G C - - - - - - 36 0 0 26 5 19.2 27 6 22.2 62 17 27.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.411764706 1.411764706 1 1.309734513 1.309734513 1 0.862992126 0.862992126 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000188 1 4.23E-09 1 4.56E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 83504642 G C - - - - - - 29 0 0 36 3 8.3 32 6 18.8 66 21 31.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.610294118 0.610294118 1 1.109144543 1.109144543 1 1.001574803 1.001574803 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000788827 1 1.27E-08 1 3.42E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 83936523 C T SEMA3A ENST00000448879 r.340g>a c.? p.? 5'UTR variant 33 0 0 23 5 21.7 36 3 8.3 61 17 27.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.595588235 1.595588235 1 0.489675516 0.489675516 1 0.878740157 0.878740157 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.75E-08 1 0.000788827 1 3.33E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 83949746 A T SEMA3A ENST00000424555 r.? - - intronic 27 0 0 32 3 9.4 26 5 19.2 66 23 34.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.691176471 0.691176471 1 1.132743363 1.132743363 1 1.096062992 1.096062992 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000556213 1 0.000000188 1 3.38E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 85246580 C G - - - - - - 25 0 0 44 5 11.4 36 6 16.7 67 20 29.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838235294 0.838235294 1 0.985250737 0.985250737 1 0.941732283 0.941732283 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000288 1 2.68E-08 1 4.42E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 87308639 G C ABCB1 CCDS5608.1 r.? - - intronic 35 0 0 24 4 16.7 20 3 15 64 19 29.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 0.884955752 0.884955752 1 0.935433071 0.935433071 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000613 1 0.0001337 1 1.34E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 87399493 T A RUNDC3B CCDS5609.1 r.? - - intronic 28 0 0 44 10 22.7 44 7 15.9 48 12 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.669117647 1.669117647 1 0.938053097 0.938053097 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.08E-14 1 2.55E-09 1 1.44E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 88498922 C G ZNF804B CCDS5613.1 r.? - - intronic 32 0 0 42 5 11.9 41 10 24.4 67 21 31.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.875 0.875 1 1.439528024 1.439528024 1 0.985826772 0.985826772 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000228 1 9.51E-15 1 4.96E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 90059445 T C - - - - - - 33 0 0 35 6 17.1 23 3 13 68 21 30.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.257352941 1.257352941 1 0.766961652 0.766961652 1 0.973228346 0.973228346 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-08 1 0.000205387 1 7.15E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 91025197 G C - - - - - - 33 0 0 36 6 16.7 46 8 17.4 52 16 30.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 1.026548673 1.026548673 1 0.97007874 0.97007874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.68E-08 1 8.61E-11 1 1.33E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 91077239 G A - - - - - - 33 0 0 37 7 18.9 34 4 11.8 63 16 25.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.389705882 1.389705882 1 0.696165192 0.696165192 1 0.8 0.8 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.05E-10 1 0.0000257 1 4.48E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 92135125 A C PEX1 CCDS5627.1 r.? - - intronic 28 0 0 40 5 12.5 42 7 16.7 53 16 30.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 0.985250737 0.985250737 1 0.951181102 0.951181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000178 1 1.81E-09 1 1.9E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 93012889 A C - - - - - - 31 0 0 44 5 11.4 39 8 20.5 74 27 36.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838235294 0.838235294 1 1.209439528 1.209439528 1 1.149606299 1.149606299 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000288 1 2.09E-11 1 6.97E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 96615360 C T - - - - - - 29 0 0 37 7 18.9 40 9 22.5 84 29 34.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.389705882 1.389705882 1 1.327433628 1.327433628 1 1.086614173 1.086614173 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.05E-10 1 4.64E-13 1 4.21E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 96866967 C G - - - - - - 41 0 0 39 9 23.1 34 6 17.6 72 22 30.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.698529412 1.698529412 1 1.038348083 1.038348083 1 0.963779528 0.963779528 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.62E-13 1 1.86E-08 1 3.36E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 97595874 G A AC079781.1 ENST00000510081 r.? - - intronic 24 0 0 30 4 13.3 31 7 22.6 74 17 23 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.977941176 0.977941176 1 1.333333333 1.333333333 1 0.724409449 0.724409449 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000154 1 1.85E-10 1 1.34E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 100331049 C A - - - - - - 32 0 0 41 7 17.1 37 9 24.3 94 48 51.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.257352941 1.257352941 1 1.433628319 1.433628319 1 2.120448819 1.060224409 2 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 1.51E-09 1 2.14E-13 1 4.51E-84 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 101216438 C G - - - - - - 24 0 0 44 5 11.4 31 4 12.9 62 20 32.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838235294 0.838235294 1 0.761061947 0.761061947 1 1.017322835 1.017322835 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000288 1 0.0000177 1 7.19E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 101404102 C T - - - - - - 25 0 0 28 5 17.9 25 6 24 65 15 23.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.316176471 1.316176471 1 1.415929204 1.415929204 1 0.727559055 0.727559055 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000279 1 2.55E-09 1 5E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 102707483 C T FBXL13 CCDS47678.1 r.? - - intronic 32 0 0 31 7 22.6 26 6 23.1 78 30 38.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.661764706 1.661764706 1 1.362831858 1.362831858 1 1.212598425 1.212598425 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.85E-10 1 3.3E-09 1 2.54E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 103008602 A G PSMC2 CCDS5731.1 r.1814a>g c.? p.? 3'UTR variant 34 0 0 38 5 13.2 48 11 22.9 75 20 26.7 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 TRUE FALSE 0.970588235 0.970588235 1 1.351032448 1.351032448 1 0.840944882 0.840944882 1 NA NA 1 NA NA 1 0 0 1 9 NA 1 1 0.00000137 1 9.31E-16 1 5.89E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 106913731 A C COG5 CCDS5743.1 r.? - - intronic 37 0 0 29 5 17.2 42 6 14.3 76 27 35.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.264705882 1.264705882 1 0.843657817 0.843657817 1 1.118110236 1.118110236 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000336 1 7.02E-08 1 1.67E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 107008654 A T COG5 CCDS5743.1 r.? - - intronic 25 0 0 32 4 12.5 44 10 22.7 51 19 37.3 0 0 NA 0 0 NA 0 0 NA 1 1 1 100 TRUE FALSE 0.919117647 0.919117647 1 1.339233038 1.339233038 1 1.17480315 1.17480315 1 NA NA 1 NA NA 1 3.149606299 3.149606299 1 9 NA 1 1 0.0000201 1 2.08E-14 1 7.94E-31 0.005 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 108171214 T G PNPLA8 CCDS34733.1 r.? - - upstream 33 0 0 27 3 11.1 46 7 15.2 73 21 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.896755162 0.896755162 1 0.907086614 0.907086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000334187 1 3.53E-09 1 4.03E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 108734742 C G - - - - - - 32 0 0 27 3 11.1 40 7 17.5 60 11 18.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 1.032448378 1.032448378 1 0.576377953 0.576377953 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000334187 1 1.26E-09 1 1.34E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 33093258 C A - - - - - - 34 0 0 25 6 24 23 5 21.7 44 23 52.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.524705882 1.524705882 1 1.063235988 1.063235988 1 1.124244094 1.124244094 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.55E-09 1 9.75E-08 1 2.17E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 110668190 A T IMMP2L CCDS5753.1 r.? - - intronic 34 0 0 33 5 15.2 39 11 28.2 62 12 19.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.117647059 1.117647059 1 1.663716814 1.663716814 1 0.611023622 0.611023622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 7.2E-17 1 4.19E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 113460167 C A - - - - - - 37 0 0 37 8 21.6 40 6 15 72 27 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.588235294 1.588235294 1 0.884955752 0.884955752 1 1.181102362 1.181102362 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.33E-11 1 5.18E-08 1 2.82E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 113993831 C T FOXP2 ENST00000324462 r.? - - intronic 30 0 0 30 8 26.7 31 4 12.9 62 22 35.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.963235294 1.963235294 1 0.761061947 0.761061947 1 1.118110236 1.118110236 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.07E-12 1 0.0000177 1 6.75E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 117134163 C T CFTR CCDS5773.1 r.? - - intronic 32 0 0 35 6 17.1 50 14 28 63 23 36.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.257352941 1.257352941 1 1.651917404 1.651917404 1 1.149606299 1.149606299 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-08 1 4.84E-21 1 9.25E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 118193006 G A - - - - - - 35 0 0 34 4 11.8 39 6 15.4 58 14 24.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.867647059 0.867647059 1 0.908554572 0.908554572 1 0.759055118 0.759055118 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 4.43E-08 1 5.04E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 118335214 G T - - - - - - 33 0 0 36 4 11.1 31 6 19.4 47 18 38.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 1.144542773 1.144542773 1 1.206299213 1.206299213 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000324 1 1.03E-08 1 1.52E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 118452347 G T - - - - - - 25 0 0 29 4 13.8 39 3 7.7 57 11 19.3 1 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.014705882 1.014705882 1 0.454277286 0.454277286 1 0.607874016 0.607874016 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000134 1 0.000998458 1 7.29E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 119519317 G A - - - - - - 34 0 0 31 6 19.4 42 9 21.4 61 17 27.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.426470588 1.426470588 1 1.262536873 1.262536873 1 0.878740157 0.878740157 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.03E-08 1 7.51E-13 1 3.33E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 120162165 C T KCND2 CCDS5776.1 r.? - - intronic 38 0 0 35 5 14.3 42 11 26.2 60 18 30 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 1.545722714 1.545722714 1 0.94488189 0.94488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000895 1 1.81E-16 1 2.89E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 120280069 T G KCND2 CCDS5776.1 r.? - - intronic 40 0 0 27 9 33.3 45 5 11.1 81 28 34.6 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 2.448529412 2.448529412 1 0.654867257 0.654867257 1 1.08976378 1.08976378 1 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 8.44E-15 1 0.00000323 1 1.28E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 120784021 G A C7orf58 CCDS34739.1 r.? - - intronic 41 0 0 36 7 19.4 49 12 24.5 63 18 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.426470588 1.426470588 1 1.445427729 1.445427729 1 0.900787402 0.900787402 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.74E-10 1 1.9E-17 1 7.98E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 123908575 G A - - - - - - 29 0 0 40 7 17.5 42 5 11.9 58 15 25.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.286764706 1.286764706 1 0.702064897 0.702064897 1 0.815748031 0.815748031 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.26E-09 1 0.00000228 1 7.42E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 124230507 A G - - - - - - 30 0 0 33 8 24.2 38 11 28.9 58 16 27.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.779411765 1.779411765 1 1.705014749 1.705014749 1 0.869291339 0.869291339 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.85E-12 1 5.19E-17 1 1E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 124340368 G A - - - - - - 31 0 0 43 8 18.6 36 4 11.1 63 26 41.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.367647059 1.367647059 1 0.654867257 0.654867257 1 1.300787402 1.300787402 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.85E-11 1 0.0000324 1 4.45E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 124392041 T C GPR37 CCDS5792.1 r.? - - intronic 31 0 0 45 6 13.3 46 10 21.7 77 15 19.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.977941176 0.977941176 1 1.280235988 1.280235988 1 0.614173228 0.614173228 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000108 1 3.38E-14 1 8.05E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 125675184 T A ENSG00000230519 ENST00000420567 r.? - - intronic 29 0 0 34 3 8.8 27 1 3.7 70 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.647058824 0.647058824 1 0.218289086 0.218289086 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.000666058 1 0.126579904 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 126927693 G A - - - - - - 25 0 0 36 4 11.1 41 8 19.5 69 2 2.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 1.267853743 1.267853743 1 0.091338583 0.091338583 1 NA NA 1 NA NA 0 NA NA 1 7 NA 1 1 0.0000324 1 3.22E-11 1 0.04704084 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 129143912 G A - - - - - - 24 0 0 37 9 24.3 12 4 33.3 53 15 28.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.786764706 1.786764706 1 2.165104085 2.165104085 1 0.891338583 0.891338583 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.14E-13 1 0.0000003 1 1.6E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 133696261 T G EXOC4 CCDS5829.1 r.? - - intronic 27 0 0 38 6 15.8 53 9 17 56 25 44.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.161764706 1.161764706 1 1.105308392 1.105308392 1 1.404724409 1.404724409 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.76E-08 1 7.1E-12 1 1.43E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 133838011 T G LRGUK CCDS5830.1 r.? - - intronic 32 0 0 39 5 12.8 38 5 13.2 88 24 27.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.941176471 0.941176471 1 0.858239457 0.858239457 1 0.85984252 0.85984252 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000156 1 0.00000137 1 1.03E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 134095961 G A - - - - - - 25 0 0 28 6 21.4 41 10 24.4 69 22 31.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.573529412 1.573529412 1 1.586442633 1.586442633 1 1.004724409 1.004724409 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 5.36E-09 1 9.51E-15 1 1.12E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 135610956 T A LUZP6 CCDS5842.1 r.? - - downstream 33 0 0 44 5 11.4 43 8 18.6 66 6 9.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838235294 0.838235294 1 1.209337417 1.209337417 1 0.286614173 0.286614173 1 NA NA 1 NA NA 0 NA NA 1 7 NA 1 1 0.00000288 1 4.85E-11 1 0.0000011 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 136241978 T C - - - - - - 32 1 3.1 41 8 19.5 44 8 18.2 67 21 31.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.433823529 1.433823529 1 1.183330161 1.183330161 1 0.985826772 0.985826772 1 NA NA 1 NA NA 0 NA NA 1 9 NA 0.14819814 1 3.22E-11 1 5.9E-11 1 4.96E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 136574542 C T CHRM2 CCDS5843.1 r.? - - intronic 35 0 0 35 4 11.4 38 8 21.1 69 19 27.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838235294 0.838235294 1 1.371882769 1.371882769 1 0.866141732 0.866141732 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000289 1 1.67E-11 1 6.95E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 137028645 G A PTN CCDS5844.1 r.? - - upstream 36 0 0 36 5 13.9 26 5 19.2 56 4 7.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.022058824 1.022058824 1 1.248348301 1.248348301 1 0.223622047 0.223622047 1 NA NA 1 NA NA 0 NA NA 1 7 NA 1 1 0.00000104 1 0.000000188 1 0.000186538 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 137705274 C T - - - - - - 34 0 0 44 9 20.5 35 5 14.3 83 24 28.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.507352941 1.507352941 1 0.929759412 0.929759412 1 0.91023622 0.91023622 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.18E-12 1 0.000000895 1 2.06E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 137741799 G A - - - - - - 25 0 0 40 5 12.5 47 9 19.1 73 28 38.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 1.241846487 1.241846487 1 1.209448819 1.209448819 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000178 1 2.24E-12 1 3.67E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 140279669 C T DENND2A CCDS43659.1 r.? - - intronic 43 0 0 41 6 14.6 22 7 31.8 74 30 40.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.073529412 1.073529412 1 2.067576874 1.290534417 1.602109054 1.275590551 1.275590551 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 6.05E-08 1 1.25E-11 1 3.53E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 140655982 T G - - - - - - 34 0 0 33 6 18.2 15 1 6.7 66 20 30.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.338235294 1.338235294 1 0.435621543 0.435621543 1 0.954330709 0.954330709 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.54E-08 1 0.072431031 1 3.11E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 141488672 G A TAS2R5 CCDS5869.1 r.? - - upstream 28 0 0 40 7 17.5 46 9 19.6 80 26 32.5 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 1.286764706 1.286764706 1 1.274355558 1.274355558 1 1.023622047 1.023622047 1 NA NA 1 0 NA 0 NA NA 1 9 NA 1 1 1.26E-09 1 1.82E-12 1 8.83E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 142674025 G A - - - - - - 39 0 0 30 4 13.3 42 3 7.1 75 20 26.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.977941176 0.977941176 1 0.461628799 0.461628799 1 0.840944882 0.840944882 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000154 1 0.001240292 1 5.89E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 143154129 A G - - - - - - 39 0 0 39 5 12.8 49 11 22.4 68 23 33.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.941176471 0.941176471 1 1.456406351 1.456406351 1 1.064566929 1.064566929 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000156 1 1.19E-15 1 7.7E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 145122042 T C - - - - - - 32 0 0 38 4 10.5 45 10 22.2 68 21 30.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.772058824 0.772058824 1 1.443402723 1.443402723 1 0.973228346 0.973228346 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000403 1 2.66E-14 1 7.15E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 145864168 C A CNTNAP2 CCDS5889.1 r.? - - intronic 41 0 0 33 4 12.1 33 3 9.1 67 20 29.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 0.59166508 0.59166508 1 0.941732283 0.941732283 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 0.000609557 1 4.42E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 145953362 C A CNTNAP2 CCDS5889.1 r.? - - intronic 39 0 0 36 4 11.1 39 5 12.8 73 18 24.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.832232201 0.832232201 1 0.777952756 0.777952756 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000324 1 0.00000156 1 1.62E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146028055 C G CNTNAP2 CCDS5889.1 r.? - - intronic 28 0 0 39 5 12.8 32 3 9.4 61 23 37.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.941176471 0.941176471 1 0.611170522 0.611170522 1 1.187401575 1.187401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000156 1 0.000556213 1 3.73E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146117790 A C CNTNAP2 CCDS5889.1 r.? - - intronic 27 0 0 38 3 7.9 40 5 12.5 66 2 3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.580882353 0.580882353 1 0.812726759 0.812726759 1 0.094488189 0.094488189 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.000925091 1 0.00000178 1 0.043431387 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 47132811 G A C11orf49 CCDS41641.1 r.? - - intronic 28 0 0 40 5 12.5 18 0 0 59 0 0 118 0 0 178 18 10.1 179 9 5 9.23E-05 184 0 0 TRUE TRUE 0.919117647 0.919117647 1 0 0 1 0 0 1 0.742647059 0.742647059 1 0.294985251 0.294985251 1 0 0 1 8 7 1 1 0.00000178 3.69E-18 1 0.000000386 1 1 YES 1_1 0_1 0_0 somatic custom.pulldown.HiSeq PD9777b 7 146341439 G C CNTNAP2 CCDS5889.1 r.? - - intronic 37 0 0 35 4 11.4 36 3 8.3 84 23 27.4 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 0.838235294 0.838235294 1 0.539650568 0.539650568 1 0.862992126 0.862992126 1 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 0.0000289 1 0.000788827 1 2.25E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146341488 G C CNTNAP2 CCDS5889.1 r.? - - intronic 33 0 0 32 4 12.5 38 8 21.1 74 21 28.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 1.371882769 1.371882769 1 0.894488189 0.894488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 1.67E-11 1 5.6E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146341735 G T CNTNAP2 CCDS5889.1 r.? - - intronic 36 0 0 40 8 20 54 5 9.3 113 25 22.1 0 0 NA 1 0 0 0 0 NA 1 1 0 0 TRUE FALSE 1.470588235 1.470588235 1 0.604668708 0.604668708 1 0.696062992 0.696062992 1 0 0 1 NA NA 1 0 0 1 9 NA 1 1 2.61E-11 1 0.00000806 1 1.51E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146341737 A C CNTNAP2 CCDS5889.1 r.? - - intronic 38 0 0 41 8 19.5 52 5 9.6 110 24 21.8 0 0 NA 1 0 0 0 0 NA 1 1 0 0 TRUE FALSE 1.433823529 1.433823529 1 0.624174151 0.624174151 1 0.686614173 0.686614173 1 0 0 1 NA NA 1 0 0 1 9 NA 1 1 3.22E-11 1 0.00000668 1 4.16E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146341862 G C CNTNAP2 CCDS5889.1 r.? - - intronic 42 0 0 43 4 9.3 52 5 9.6 85 24 28.2 0 0 NA 2 0 0 3 3 100 1.00E-06 0 0 NA TRUE FALSE 0.683823529 0.683823529 1 0.624174151 0.624174151 1 0.888188976 0.888188976 1 0 0 1 6.501814069 4.058284329 1.602109054 NA NA 1 9 NA 1 1 0.000066 1 0.00000668 0.000000125 3.98E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146342135 G C CNTNAP2 CCDS5889.1 r.? - - intronic 34 0 0 38 6 15.8 53 6 11.3 90 20 22.2 1 0 0 170 18 10.6 148 18 12.2 1.80E-14 165 29 17.6 TRUE TRUE 1.161764706 1.161764706 1 0.73470499 0.73470499 1 0.699212598 0.699212598 1 0.779411765 0.779411765 1 0.793221316 0.793221316 1 0.554330709 0.554330709 1 9 8 1 1 3.76E-08 1.6E-18 0.000000293 1.27E-19 3.48E-27 1.62E-35 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 186666314 C A FSIP2 ENST00000424728 r.12281c>a c.12281C>A p.S4094Y missense 31 0 0 27 6 22.2 37 8 21.6 51 12 23.5 216 0 0 306 43 14.1 278 52 18.7 1.01E-48 275 84 30.5 TRUE TRUE 1.632352941 1.632352941 1 1.274336283 1.274336283 1 0.74015748 0.74015748 1 1.036764706 1.036764706 1 1.103244838 1.103244838 1 0.960629921 0.960629921 1 9 12 1 1 4.23E-09 1.8E-47 1.33E-11 6.84E-64 3.24E-17 3.31E-122 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 13 113980385 A C GRTP1 CCDS9534.2 r.659u>g c.584T>G p.L195R missense 24 0 0 16 3 18.8 4 1 25 52 14 26.9 95 0 0 5 0 0 10 0 0 1 33 9 27.3 TRUE TRUE 1.570352941 1.570352941 1 1.724926254 1.724926254 1 1.116244094 1.116244094 1 0 0 1 0 0 1 1.13284252 1.13284252 1 9 11 1 1 0.0000667 1 0.019850499 1 9.04E-21 6.76E-14 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 18369168 A G GTF2H1 CCDS7838.1 r.1565a>g c.871A>G p.N291D missense 26 0 0 32 0 0 55 0 0 89 13 14.6 42 1 2.4 116 0 0 115 1 0.9 0.685190827 110 13 11.8 TRUE TRUE 0 0 1 0 0 1 0.60584252 0.60584252 1 0 0 1 0.062097345 0.062097345 1 0.489653543 0.489653543 1 2 2 1 0.189842622 1 1 1 0.438106141 1.21E-15 2.06E-14 YES 0_0 0_0 1_1 somatic custom.pulldown.HiSeq PD9777b 12 31670072 A T DENND5B CCDS44857.1 r.? - - intronic 26 0 0 25 3 12 44 2 4.5 76 0 0 36 1 2.8 150 9 6 190 13 6.8 8.58E-08 289 0 0 TRUE TRUE 1.002352941 1.002352941 1 0.310486726 0.310486726 1 0 0 1 0.501176471 0.501176471 1 0.469179941 0.469179941 1 0 0 1 7 7 1 0.165106833 0.00026475 0.000000086 0.020580492 2.38E-11 1 1 YES 1_1 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 7 147889005 G C CNTNAP2 CCDS5889.1 r.? - - intronic 30 0 0 31 5 16.1 28 6 21.4 48 20 41.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.022823529 1.022823529 1 1.048536873 1.048536873 1 0.896385827 0.896385827 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000476 1 5.36E-09 1 1.4E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 152820394 G A - - - - - - 24 0 0 24 4 16.7 20 9 45 48 24 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 2.204867257 2.204867257 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000613 1 3.12E-16 1 1.71E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 153154735 C T - - - - - - 32 0 0 26 8 30.8 24 9 37.5 39 20 51.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.956705882 1.956705882 1 1.837389381 1.837389381 1 1.102748031 1.102748031 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.63E-13 1 2.39E-15 1 6E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 158893313 T C VIPR2 CCDS5950.1 r.? - - intronic 30 0 0 33 6 18.2 12 5 41.7 56 27 48.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.156235294 1.156235294 1 2.043176991 2.043176991 1 1.036110236 1.036110236 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.54E-08 1 2.4E-09 1 4.78E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 1248801 G A - - - - - - 29 0 0 39 7 17.9 10 3 30 44 19 43.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.137176471 1.137176471 1 1.469911504 1.469911504 1 0.928629921 0.928629921 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.04E-09 1 0.0000146 1 2.39E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 1368615 C T - - - - - - 21 0 0 36 4 11.1 20 5 25 38 15 39.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.705176471 0.705176471 1 1.224926254 1.224926254 1 0.849094488 0.849094488 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000324 1 4.55E-08 1 4.24E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 1498988 A G DLGAP2 CCDS47760.1 r.? - - intronic 39 0 0 37 6 16.2 13 3 23.1 54 25 46.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.029176471 1.029176471 1 1.131831858 1.131831858 1 0.995267717 0.995267717 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.18E-08 1 0.0000344 1 4.36E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 2528622 A T - - - - - - 41 0 0 39 10 25.6 31 7 22.6 47 24 51.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.626352941 1.626352941 1 1.107333333 1.107333333 1 1.098448819 1.098448819 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.44E-15 1 1.85E-10 1 8.6E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 3744313 A G - - - - - - 41 0 0 26 6 23.1 36 7 19.4 42 20 47.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.467529412 1.467529412 1 0.950542773 0.950542773 1 1.023212598 1.023212598 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.3E-09 1 5.74E-10 1 4.41E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 8769002 G A - - - - - - 33 0 0 35 6 17.1 33 9 27.3 35 20 57.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.086352941 1.086352941 1 1.337619469 1.337619469 1 1.227425197 1.227425197 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-08 1 6.76E-14 1 2.88E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 8937410 G A - - - - - - 32 0 0 26 5 19.2 25 2 8 58 29 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.219764706 1.219764706 1 0.391976401 0.391976401 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000188 1 0.006948068 1 4.87E-51 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 11889360 C A - - - - - - 29 0 0 18 6 33.3 16 2 12.5 41 22 53.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.115529412 2.115529412 1 0.612463127 0.612463127 1 1.154338583 1.154338583 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.75E-10 1 0.002863359 1 5.33E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 12539435 A T OR7E8P ENST00000317826 r.? - - downstream 29 0 0 23 3 13 28 5 17.9 61 7 11.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.825882353 0.825882353 1 0.877047198 0.877047198 1 0.247204724 0.247204724 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.000205387 1 0.000000279 1 2.69E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 14462627 G A SGCZ CCDS5992.2 r.? - - intronic 18 0 0 28 4 14.3 29 5 17.2 34 18 52.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 0.842749263 0.842749263 1 1.137141732 1.137141732 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000116 1 0.000000336 1 7.79E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 16970865 T C EFHA2 CCDS5999.1 r.? - - intronic 33 0 0 26 5 19.2 28 5 17.9 58 21 36.2 1 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.219764706 1.219764706 1 0.877047198 0.877047198 1 0.77815748 0.77815748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000188 1 0.000000279 1 1.34E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 17289345 G A - - - - - - 34 0 0 32 4 12.5 27 4 14.8 54 20 37 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 0.725156342 0.725156342 1 0.795354331 0.795354331 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 0.00001 1 2.61E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 18126372 C T - - - - - - 31 0 0 32 7 21.9 36 5 13.9 61 30 49.2 1 0 0 2 0 0 0 0 NA 1 0 0 NA TRUE FALSE 1.391294118 1.391294118 1 0.681058997 0.681058997 1 1.057606299 1.057606299 1 0 0 1 NA NA 1 NA NA 1 9 NA 1 1 2.36E-10 1 0.00000104 1 1.86E-52 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 23089912 A T AC100861.2 ENST00000500853 r.? - - downstream 36 0 0 28 3 10.7 16 4 25 33 17 51.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.679764706 0.679764706 1 1.224926254 1.224926254 1 1.107047244 1.107047244 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000372895 1 0.00000108 1 8.25E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 23964168 G C - - - - - - 33 0 0 33 5 15.2 39 11 28.2 47 21 44.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.965647059 0.965647059 1 1.381716814 1.381716814 1 0.960874016 0.960874016 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 7.2E-17 1 5.29E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 27102858 G A STMN4 CCDS6055.1 r.? - - intronic 36 0 0 33 7 21.2 15 5 33.3 43 18 41.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.346823529 1.346823529 1 1.63160177 1.63160177 1 0.900685039 0.900685039 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.98E-10 1 0.000000009 1 2.06E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 29793124 G A - - - - - - 37 0 0 28 4 14.3 29 9 31 38 19 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 1.518908555 1.518908555 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000116 1 1.79E-14 1 6.16E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 31843136 G T NRG1 CCDS47836.1 r.? - - intronic 33 0 0 30 7 23.3 32 5 15.6 32 19 59.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.480235294 1.480235294 1 0.764353982 0.764353982 1 1.276866142 1.276866142 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.44E-10 1 0.000000562 1 6.23E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 35673509 C T - - - - - - 36 0 0 36 6 16.7 5 2 40 43 21 48.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 1.959882006 1.959882006 1 1.049007874 1.049007874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.68E-08 1 0.000247509 1 4.52E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 36239984 A C - - - - - - 31 0 0 47 9 19.1 25 7 28 43 20 46.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.213411765 1.213411765 1 1.371917404 1.371917404 1 0.999566929 0.999566929 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-12 1 3.47E-11 1 8.21E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 40279857 T C - - - - - - 36 0 0 30 6 20 29 6 20.7 44 22 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.270588235 1.270588235 1 1.014238938 1.014238938 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.37E-09 1 6.72E-09 1 4.51E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 47725668 G T - - - - - - 31 0 0 37 6 16.2 48 4 8.3 85 22 25.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.353176471 1.353176471 1 0.572675516 0.572675516 1 1.052780342 1.052780342 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 3.18E-08 1 0.000102016 1 2.23E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 47807626 T C - - - - - - 37 0 0 37 6 16.2 42 8 19 83 19 22.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.353176471 1.353176471 1 1.310943953 1.310943953 1 0.930836673 0.930836673 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 3.18E-08 1 3.96E-11 1 3.6E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 47857081 C T - - - - - - 36 0 0 43 9 20.9 46 14 30.4 93 49 52.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.745764706 1.745764706 1 2.097510324 1.048755162 2 2.142143784 1.071071892 2 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 9.45E-13 1 1.26E-21 1 1.02E-86 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 48507728 A C KIAA0146 CCDS43737.1 r.? - - intronic 30 0 0 26 7 26.9 59 18 30.5 91 47 51.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.246941176 1.123470588 2 2.104410029 1.052205015 2 2.097431105 1.048715553 2 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 4.73E-11 1 2.03E-27 1 1.13E-82 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 49662358 C G - - - - - - 27 0 0 40 8 20 27 0 0 69 14 20.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.670588235 1.670588235 1 0 0 1 0.82515216 0.82515216 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 2.61E-11 1 1 1 7.3E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 35857742 C T - - - - - - 21 0 0 28 5 17.9 8 0 0 48 24 50 236 0 0 48 6 12.5 92 16 17.4 1.54E-15 61 30 49.2 TRUE TRUE 1.137176471 1.137176471 1 0 0 1 1.07480315 1.07480315 1 0.794117647 0.794117647 1 0.852548673 0.852548673 1 1.057606299 1.057606299 1 9 12 1 1 0.000000279 0.00000016 1 3.36E-20 1.71E-42 1.86E-52 YES 1_1 0_1 1_1 somatic custom.pulldown.HiSeq PD9777b 8 50604831 A C - - - - - - 35 0 0 39 4 10.3 52 6 11.5 87 21 24.1 15 0 0 170 14 8.2 225 26 11.6 1.16E-19 246 38 15.4 TRUE TRUE 0.860352941 0.860352941 1 0.793466077 0.793466077 1 0.97961414 0.97961414 1 0.684941176 0.684941176 1 0.800365782 0.800365782 1 0.6259775 0.6259775 1 9 8 1 1 0.0000447 3.28E-13 0.000000261 4.52E-27 2.64E-29 8.86E-44 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 50731773 G T - - - - - - 30 0 0 36 5 13.9 52 7 13.5 90 19 21.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.161058824 1.161058824 1 0.931460177 0.931460177 1 0.857670471 0.857670471 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000104 1 8.58E-09 1 1.95E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 50745134 G A - - - - - - 31 0 0 38 6 15.8 47 20 42.6 100 38 38 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.319764706 1.319764706 1 2.939274336 1.469637168 2 1.544619806 0.772309903 2 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 3.76E-08 1 8.18E-34 1 1.52E-60 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 50856709 C T - - - - - - 24 0 0 39 6 15.4 42 16 38.1 68 35 51.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.286352941 1.286352941 1 2.628787611 1.314393805 2 2.093366316 1.046683158 2 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 4.43E-08 1 2.25E-26 1 6.85E-62 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 51167389 G A - - - - - - 18 0 0 34 6 17.6 26 4 15.4 83 17 20.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470117647 1.470117647 1 1.062554572 1.062554572 1 0.833281738 0.833281738 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.86E-08 1 0.00000856 1 1.14E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 51423281 C A SNTG1 CCDS6147.1 r.? - - intronic 40 0 0 29 7 24.1 50 12 24 84 38 45.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.013058824 1.006529412 2 1.655929204 0.827964602 2 1.837284612 0.918642306 2 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.11E-10 1 2.49E-17 1 3.35E-64 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 51959636 A T - - - - - - 30 0 0 33 11 33.3 36 15 41.7 93 49 52.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.781529412 1.390764706 2 2.877176991 1.438588496 2 2.142143784 1.071071892 2 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 8.54E-18 1 1.54E-25 1 1.02E-86 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 54033229 G T - - - - - - 39 0 0 40 4 10 37 3 8.1 107 21 19.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.835294118 0.835294118 1 0.558876106 0.558876106 1 0.796698637 0.796698637 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000495 1 0.000855237 1 3.13E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 55299145 C T - - - - - - 33 0 0 38 5 13.2 43 5 11.6 70 20 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.102588235 1.102588235 1 0.800365782 0.800365782 1 1.162529644 1.162529644 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000137 1 0.00000257 1 1.22E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 55389730 C A - - - - - - 42 0 0 32 8 25 31 7 22.6 88 22 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.088235294 1.044117647 2 1.559333333 1.559333333 1 1.016197241 1.016197241 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 3.69E-12 1 1.85E-10 1 5.27E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 56140834 A C XKR4 CCDS34893.1 r.? - - intronic 39 0 0 39 4 10.3 28 2 7.1 88 14 15.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.860352941 0.860352941 1 0.489879056 0.489879056 1 0.646301445 0.706199396 0.915182665 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000447 1 0.008668191 1 2.78E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 57743274 C T - - - - - - 33 0 0 51 6 11.8 45 7 15.6 87 28 32.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.985647059 0.985647059 1 1.076353982 1.076353982 1 1.308862046 1.308862046 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000000232 1 0.000000003 1 1.4E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 59261045 A G - - - - - - 38 0 0 37 5 13.5 47 7 14.9 114 18 15.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.262647059 1.262647059 1 1.028056047 1.028056047 1 0.813637795 0.813637795 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000119 1 4.12E-09 1 9.69E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 59940020 T A TOX CCDS34897.1 r.? - - intronic 33 0 0 45 6 13.3 35 6 17.1 106 16 15.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.243941176 1.243941176 1 1.179849558 1.179849558 1 0.777590551 0.777590551 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000108 1 2.24E-08 1 3.68E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 61449517 G A RAB2A CCDS6175.1 r.? - - intronic 29 0 0 22 5 22.7 43 7 16.3 96 28 29.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.896117647 1.896117647 1 1.124651917 1.124651917 1 1.250531454 1.250531454 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.67E-08 1 2.15E-09 1 3.52E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 62351946 G T CLVS1 CCDS6176.1 r.? - - intronic 31 0 0 43 7 16.3 55 10 18.2 86 23 26.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.361529412 1.361529412 1 1.255746313 1.255746313 1 1.143465405 1.143465405 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.15E-09 1 2.33E-13 1 4.16E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 64671179 G A - - - - - - 24 0 0 34 4 11.8 45 5 11.1 93 21 22.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.985647059 0.985647059 1 0.765867257 0.765867257 1 0.967877085 0.967877085 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 0.00000323 1 1.25E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 65002962 T A - - - - - - 25 0 0 40 5 12.5 22 8 36.4 86 13 15.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.044117647 1.044117647 1 2.511492625 1.255746313 2 0.646678937 0.646678937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000178 1 1.17E-13 1 7.57E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 66375349 G A - - - - - - 27 0 0 28 6 21.4 20 3 15 91 24 26.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.787529412 1.787529412 1 1.034955752 1.034955752 1 1.130617479 1.130617479 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.36E-09 1 0.0001337 1 2.58E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 66604975 G A MTFR1 CCDS6182.1 r.? - - intronic 32 0 0 40 6 15 46 6 13 92 22 23.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.252941176 1.252941176 1 0.896961652 0.896961652 1 1.02355143 1.02355143 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.18E-08 1 0.000000123 1 1.57E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 67161217 G A - - - - - - 30 0 0 32 11 34.4 42 12 28.6 74 39 52.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.873411765 1.436705882 2 1.973315634 0.986657817 2 2.256952317 1.058094035 2.133035668 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.72E-18 1 2.35E-18 1 2.41E-69 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 67808182 C T C8orf45 CCDS6197.2 r.? - - intronic 38 0 0 41 5 12.2 39 0 0 90 19 21.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.019058824 1.019058824 1 0 0 1 0.903637455 0.903637455 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.00000202 1 1 1 1.95E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 68347567 G A CPA6 CCDS6200.1 r.? - - intronic 32 0 0 34 6 17.6 13 2 15.4 82 24 29.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470117647 1.470117647 1 1.062554572 1.062554572 1 1.254814096 1.254814096 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.86E-08 1 0.001879825 1 1.47E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 69201155 T A - - - - - - 33 0 0 47 6 12.8 46 7 15.2 91 17 18.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.069176471 1.069176471 1 1.048755162 1.048755162 1 0.800854048 0.800854048 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000141 1 3.53E-09 1 6.18E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 69896138 G C - - - - - - 31 0 0 38 4 10.5 43 12 27.9 96 16 16.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.877058824 0.877058824 1 1.925017699 0.96250885 2 0.715201209 0.715201209 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000403 1 3.24E-18 1 6.93E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 70119153 G T - - - - - - 31 0 0 30 6 20 34 2 5.9 82 26 31.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.670588235 1.670588235 1 0.407082596 0.407082596 1 1.357597504 1.198194851 1.133035668 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.37E-09 1 0.012612579 1 1.89E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 71211282 G T NCOA2 CCDS47872.1 r.? - - intronic 27 0 0 37 6 16.2 21 1 4.8 72 18 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.353176471 1.353176471 1 0.331185841 0.331185841 1 1.070660492 1.070660492 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 3.18E-08 1 0.099912572 1 1.22E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 72593192 G C - - - - - - 30 0 0 33 4 12.1 31 5 16.1 82 22 26.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.010705882 1.010705882 1 1.110852507 1.110852507 1 1.147748047 1.147748047 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 0.000000476 1 9.09E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 73232170 T G - - - - - - 40 0 0 49 5 10.2 51 3 5.9 80 25 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.852 0.852 1 0.407082596 0.407082596 1 1.336184294 1.336184294 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000496 1 0.002175924 1 8.31E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 74463635 G A STAU2 CCDS6214.1 r.2248c>u c.? p.? 3'UTR variant 27 0 0 37 7 18.9 51 9 17.6 83 23 27.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.578705882 1.578705882 1 1.214348083 1.214348083 1 1.186291825 1.186291825 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.05E-10 1 4.92E-12 1 1.64E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 74479185 T C STAU2 CCDS6214.1 r.? - - intronic 28 0 0 23 7 30.4 39 9 23.1 99 27 27.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.539294118 1.269647059 2 1.593831858 1.593831858 1 1.169161257 1.169161257 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.79E-11 1 3.62E-13 1 7.36E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 74644654 C T STAU2 CCDS6214.1 r.? - - intronic 31 0 0 19 4 21.1 37 6 16.2 65 17 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.762470588 1.762470588 1 1.117752212 1.117752212 1 1.122052195 1.122052195 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000228 1 3.18E-08 1 1.14E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 77024725 C A - - - - - - 30 0 0 36 7 19.4 46 9 19.6 81 25 30.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.620470588 1.620470588 1 1.352342183 1.352342183 1 1.323336368 1.323336368 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.74E-10 1 1.82E-12 1 1.2E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 77069453 T C - - - - - - 31 0 0 42 4 9.5 48 6 12.5 78 24 30.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.793529412 0.793529412 1 0.862463127 0.862463127 1 1.319053726 1.319053726 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000601 1 0.00000016 1 3.63E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 77655675 G C ZFHX4 CCDS47878.1 r.? - - intronic 31 0 0 46 5 10.9 34 4 11.8 84 24 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.910470588 0.910470588 1 0.814165192 0.814165192 1 1.224835603 1.224835603 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000361 1 0.0000257 1 2.87E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 78032381 G A - - - - - - 39 0 0 47 7 14.9 37 7 18.9 115 28 24.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.244588235 1.244588235 1 1.304044248 1.304044248 1 1.040681998 1.040681998 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.12E-09 1 7.05E-10 1 1.11E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 78146816 T C - - - - - - 24 0 0 47 9 19.1 43 19 44.2 62 39 62.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.595411765 1.595411765 1 3.049669617 1.524834808 2 2.693781797 1.262886429 2.133035668 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-12 1 1.36E-32 1 9.7E-74 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 81352276 C G - - - - - - 26 0 0 34 5 14.7 37 4 10.8 84 16 19 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227882353 1.227882353 1 0.745168142 0.745168142 1 0.813701974 0.813701974 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000771 1 0.0000362 1 7.07E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 83999996 T A - - - - - - 30 0 0 34 10 29.4 49 15 30.6 80 46 57.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.455764706 1.227882353 2 2.111309735 1.055654867 2 2.462519131 1.154466926 2.133035668 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.15E-15 1 4.1E-23 1 5.3E-84 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 84354689 C T - - - - - - 29 0 0 47 6 12.8 46 7 15.2 67 16 23.9 0 0 NA 1 1 100 0 0 NA 1 0 0 NA TRUE FALSE 1.069176471 1.069176471 1 1.048755162 1.048755162 1 1.02355143 1.02355143 1 8.352941176 8.352941176 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000141 0.005 3.53E-09 1 1.35E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 84836830 T C - - - - - - 47 0 0 51 10 19.6 40 6 15 86 18 20.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.637176471 1.637176471 1 1.034955752 1.034955752 1 0.895072171 0.895072171 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.04E-13 1 5.18E-08 1 4.22E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 84847375 C T - - - - - - 27 0 0 34 5 14.7 45 7 15.6 94 28 29.8 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 TRUE FALSE 1.227882353 1.227882353 1 1.076353982 1.076353982 1 1.276227306 1.276227306 1 NA NA 1 NA NA 1 0 0 1 9 NA 1 1 0.000000771 1 0.000000003 1 1.77E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 85040698 G C - - - - - - 37 0 0 30 5 16.7 49 7 14.3 90 17 18.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.394941176 1.394941176 1 0.986657817 0.986657817 1 0.809419332 0.809419332 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 5.58E-09 1 5.05E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 85042958 G A - - - - - - 32 0 0 33 8 24.2 43 9 20.9 84 37 44 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.021411765 1.010705882 2 1.442038348 1.442038348 1 1.884362466 0.942181233 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.85E-12 1 9.45E-13 1 5.39E-62 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 85115921 A T - - - - - - 37 0 0 50 4 8 44 6 13.6 87 24 27.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.668235294 0.668235294 1 0.938359882 0.938359882 1 1.182009183 1.182009183 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000119787 1 9.37E-08 1 7.54E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 85132021 A C - - - - - - 40 0 0 44 6 13.6 38 3 7.9 88 25 28.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.136 1.136 1 0.545076696 0.545076696 1 1.216270319 1.216270319 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.37E-08 1 0.000925091 1 1.33E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 85823639 C T RALYL ENST00000399361 r.? - - intronic 32 0 0 46 7 15.2 48 11 22.9 98 51 52 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.269647059 1.269647059 1 1.580032448 1.580032448 1 2.226973823 1.044039655 2.133035668 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.53E-09 1 9.31E-16 1 8.28E-90 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 86069490 G T - - - - - - 30 0 0 34 5 14.7 54 3 5.6 91 21 23.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227882353 1.227882353 1 0.386383481 0.386383481 1 0.989290294 0.989290294 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000771 1 0.00256299 1 7.54E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 86462282 T C - - - - - - 27 0 0 26 6 23.1 32 12 37.5 82 39 47.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.929529412 1.929529412 1 2.587389381 1.29369469 2 2.038537576 1.019268788 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.3E-09 1 5.03E-20 1 5.69E-67 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 87045124 G C - - - - - - 34 0 0 43 7 16.3 35 6 17.1 100 19 19 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.361529412 1.361529412 1 1.179849558 1.179849558 1 0.813701974 0.813701974 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.15E-09 1 2.24E-08 1 1.72E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 87975614 G A - - - - - - 41 0 0 37 5 13.5 56 7 12.5 92 19 20.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.127647059 1.127647059 1 0.862463127 0.862463127 1 0.886506887 0.886506887 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000119 1 1.46E-08 1 3.08E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 88264015 C T CNBD1 ENST00000319712 r.? - - intronic 32 0 0 38 7 18.4 44 3 6.8 68 16 23.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.536941176 1.536941176 1 0.469179941 0.469179941 1 1.006420862 1.006420862 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.61E-10 1 0.00142027 1 1.75E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 88854666 G A - - - - - - 33 0 0 35 7 20 27 6 22.2 88 48 54.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.670588235 1.670588235 1 1.531734513 1.531734513 1 2.334039872 1.094233869 2.133035668 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.65E-10 1 4.23E-09 1 5.35E-86 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 89938945 T C - - - - - - 39 0 0 34 7 20.6 48 8 16.7 92 43 46.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.720705882 1.720705882 1 1.152250737 1.152250737 1 1.999993799 0.999996899 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.73E-10 1 1.23E-10 1 3.03E-73 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 91886401 A G NECAB1 CCDS47889.1 r.? - - intronic 43 0 0 40 8 20 41 7 17.1 96 26 27.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.670588235 1.670588235 1 1.179849558 1.179849558 1 1.160595973 1.160595973 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.61E-11 1 1.51E-09 1 2.18E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 92723977 G A - - - - - - 30 0 0 40 4 10 46 7 15.2 78 8 10.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.935294118 0.935294118 1 1.048755162 1.048755162 1 0.530409449 0.530409449 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000495 1 3.53E-09 1 6.71E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 92725449 G T - - - - - - 36 0 0 40 5 12.5 60 11 18.3 127 29 22.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.169117647 1.169117647 1 1.262646018 1.262646018 1 1.174110236 1.174110236 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000178 1 1.34E-14 1 4.19E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 92726084 G A - - - - - - 29 0 0 51 8 15.7 54 9 16.7 105 23 21.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.468411765 1.468411765 1 1.152250737 1.152250737 1 1.12776378 1.12776378 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 2.05E-10 1 8.48E-12 1 7.08E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 92727367 G C - - - - - - 29 0 0 45 9 20 53 16 30.2 113 18 15.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.870588235 0.935294118 2 2.083710914 1.041855457 2 0.818787402 0.818787402 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.47E-12 1 1.9E-24 1 8.2E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 92727604 G T - - - - - - 32 0 0 50 6 12 65 19 29.2 113 16 14.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.122352941 1.122352941 1 2.014713864 1.007356932 2 0.731244094 0.731244094 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000206 1 1.89E-28 1 1.07E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 93629287 G A - - - - - - 32 0 0 37 8 21.6 53 6 11.3 102 16 15.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.020235294 1.010117647 2 0.892666667 0.892666667 1 0.808488189 0.808488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.33E-11 1 0.000000293 1 1.93E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 93885718 G C - - - - - - 27 0 0 42 6 14.3 52 5 9.6 101 18 17.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.337470588 1.337470588 1 0.758371681 0.758371681 1 0.916629921 0.916629921 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.02E-08 1 0.00000668 1 9.6E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 94096190 G A - - - - - - 29 0 0 52 5 9.6 47 8 17 94 18 19.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.897882353 0.897882353 1 1.342949853 1.342949853 1 0.983574803 0.983574803 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000668 1 1.03E-10 1 2.4E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 94215722 A C - - - - - - 31 0 0 35 6 17.1 58 7 12.1 119 25 21 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.599352941 1.599352941 1 0.955864307 0.955864307 1 1.081417323 1.081417323 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-08 1 1.88E-08 1 6.26E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 94506539 T G AC011118.2 ENST00000501400 r.? - - intronic 30 0 0 46 8 17.4 63 5 7.9 111 19 17.1 1 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.627411765 1.627411765 1 0.624076696 0.624076696 1 0.880582677 0.880582677 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.61E-11 1 0.0000173 1 1.43E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 95800752 C T DPY19L4 CCDS34924.1 r.? - - intronic 37 0 0 40 6 15 40 7 17.5 106 22 20.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.402941176 1.402941176 1 1.382448378 1.382448378 1 1.07111811 1.07111811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.18E-08 1 1.26E-09 1 4.91E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 97283609 G C PTDSS1 CCDS6271.1 r.? - - intronic 36 0 0 43 4 9.3 49 3 6.1 115 20 17.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.869823529 0.869823529 1 0.481882006 0.481882006 1 0.896031496 0.896031496 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000066 1 0.001939399 1 7.05E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 98454373 G C - - - - - - 29 0 0 36 4 11.1 50 4 8 106 19 17.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.038176471 1.038176471 1 0.631976401 0.631976401 1 0.921779528 0.921779528 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000324 1 0.000119787 1 5.64E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 98875679 A C - - - - - - 34 0 0 52 6 11.5 31 2 6.5 116 25 21.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.075588235 1.075588235 1 0.513480826 0.513480826 1 1.112314961 1.112314961 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000261 1 0.010558179 1 3.11E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 98889040 T A MATN2 ENST00000254898 r.? - - intronic 34 0 0 57 17 29.8 49 12 24.5 119 47 39.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.787176471 0.929058824 3 1.935427729 0.967713864 2 2.034094488 1.017047244 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.82E-26 1 1.9E-17 1 1.76E-75 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 99765754 G A ENSG00000104375 CCDS47900.1 r.? - - intronic 33 0 0 33 5 15.2 49 6 12.2 100 27 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.421647059 1.421647059 1 0.963764012 0.963764012 1 1.390393701 0.69519685 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 0.000000182 1 1E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 102729643 A T NCALD CCDS6292.1 r.? - - intronic 34 0 0 49 5 10.2 71 4 5.6 103 23 22.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.954 0.954 1 0.442383481 0.442383481 1 1.148362205 1.148362205 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000496 1 0.000464961 1 4.35E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 102729651 A C NCALD CCDS6292.1 r.? - - intronic 34 0 0 50 5 10 65 4 6.2 104 24 23.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.935294118 0.935294118 1 0.489781711 0.489781711 1 1.189559055 1.189559055 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000549 1 0.000331785 1 9.41E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 104057046 G A ATP6V1C1 CCDS6296.1 r.? - - intronic 38 0 0 40 12 30 49 19 38.8 102 64 62.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.805882353 0.935294118 3 3.065085546 1.021695182 3 3.22880315 1.076267717 3 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.2E-18 1 3.12E-31 1 6.51E-120 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 104634978 C T RIMS2 ENST00000504942 r.? - - intronic 35 0 0 45 5 11.1 61 7 11.5 104 24 23.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.038176471 1.038176471 1 0.908466077 0.908466077 1 1.189559055 1.189559055 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000323 1 2.69E-08 1 9.41E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 105032225 T G RIMS2 ENST00000507740 r.? - - intronic 36 0 0 42 6 14.3 53 6 11.3 115 21 18.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.337470588 1.337470588 1 0.892666667 0.892666667 1 0.942377953 0.942377953 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.02E-08 1 0.000000293 1 1.6E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 105447153 C G DPYS CCDS6302.1 r.? - - intronic 26 0 0 39 5 12.8 52 7 13.5 120 34 28.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.197176471 1.197176471 1 1.066460177 1.066460177 1 1.457338583 0.728669291 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000156 1 8.58E-09 1 3.58E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 75197536 C A HIP1 CCDS34669.1 r.797g>u c.770G>T p.G257V missense 30 0 0 34 6 17.6 25 4 16 52 14 26.9 150 3 2 66 4 6.1 71 11 15.5 1.48E-10 49 23 46.9 TRUE TRUE 1.294117647 1.294117647 1 0.943952802 0.943952802 1 0.847244094 0.847244094 1 0.448529412 0.448529412 1 0.914454277 0.914454277 1 1.477165354 1.477165354 1 9 11 1 0.040088768 1.86E-08 0.000351793 0.00000727 9.49E-14 9.04E-21 6.14E-40 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 8 106036895 G T - - - - - - 22 0 0 38 5 13.2 58 9 15.5 90 20 22.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.234588235 1.234588235 1 1.224454277 1.224454277 1 1.143212598 1.143212598 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000137 1 1.67E-11 1 3.48E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 106100803 G C - - - - - - 34 0 0 45 5 11.1 55 7 12.7 103 15 14.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.038176471 1.038176471 1 1.003262537 1.003262537 1 0.75184252 0.75184252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000323 1 1.28E-08 1 8.24E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 106685643 T C ZFPM2 CCDS47908.1 r.? - - intronic 32 0 0 47 14 29.8 48 10 20.8 91 49 53.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.787176471 0.929058824 3 1.643138643 1.643138643 1 2.770488189 0.923496063 3 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.79E-21 1 5.37E-14 1 2.29E-87 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 106869067 G T - - - - - - 34 0 0 44 5 11.4 58 7 12.1 95 16 16.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.066235294 1.066235294 1 0.955864307 0.955864307 1 0.865133858 0.865133858 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000288 1 1.88E-08 1 5.8E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 107004151 A T - - - - - - 23 0 0 34 8 23.5 23 3 13 85 19 22.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.197941176 1.098970588 2 1.026961652 1.026961652 1 1.153511811 1.153511811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.32E-12 1 0.000205387 1 5.93E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 107896309 C A - - - - - - 24 0 0 40 8 20 45 10 22.2 77 28 36.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.870588235 0.935294118 2 1.753734513 0.876867257 2 1.874456693 0.937228346 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.61E-11 1 2.66E-14 1 2.3E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 110667994 C T ENSG00000147642 CCDS47912.1 r.? - - intronic 32 0 0 56 12 21.4 53 8 15.1 98 22 22.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.001529412 1.000764706 2 1.192855457 1.192855457 1 1.153511811 1.153511811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.11E-16 1 2.83E-10 1 7.37E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 110678303 C T ENSG00000147642 CCDS47912.1 r.? - - intronic 23 0 0 51 6 11.8 47 7 14.9 111 19 17.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.103647059 1.103647059 1 1.177056047 1.177056047 1 0.880582677 0.880582677 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000232 1 4.12E-09 1 1.43E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 112420230 G T - - - - - - 29 0 0 50 6 12 58 5 8.6 80 14 17.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.122352941 1.122352941 1 0.679374631 0.679374631 1 0.901181102 0.901181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000206 1 0.0000115 1 6.76E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 112654032 T A - - - - - - 31 0 0 31 5 16.1 44 7 15.9 110 18 16.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.505823529 1.505823529 1 1.256053097 1.256053097 1 0.844535433 0.844535433 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000476 1 2.55E-09 1 4.92E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 113700982 T A CSMD3 CCDS6315.1 r.? - - intronic 40 0 0 48 6 12.5 40 7 17.5 91 13 14.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.169117647 1.169117647 1 1.382448378 1.382448378 1 0.736393701 0.736393701 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000016 1 1.26E-09 1 1.63E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 114137371 C G CSMD3 CCDS6315.1 r.? - - intronic 31 0 0 58 7 12.1 48 3 6.2 112 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.131705882 1.131705882 1 0.489781711 0.489781711 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 1.88E-08 1 0.001827434 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 114900464 A G - - - - - - 24 0 0 49 8 16.3 49 9 18.4 97 23 23.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.524529412 1.524529412 1 1.453545723 1.453545723 1 1.220456693 1.220456693 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.47E-10 1 3.35E-12 1 9.4E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 115132221 T A - - - - - - 35 0 0 51 7 13.7 64 4 6.2 110 23 20.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.281352941 1.281352941 1 0.489781711 0.489781711 1 1.076267717 1.076267717 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.46E-09 1 0.000312605 1 2.29E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 116251339 C G - - - - - - 29 0 0 42 5 11.9 55 1 1.8 101 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.113 1.113 1 0.14219469 0.14219469 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.00000228 1 0.240951649 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 116520745 C T TRPS1 CCDS6318.2 r.? - - intronic 27 0 0 38 6 15.8 61 11 18 97 21 21.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.477764706 1.477764706 1 1.421946903 1.421946903 1 1.112314961 1.112314961 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.76E-08 1 1.62E-14 1 3.31E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 116646428 G T TRPS1 CCDS6318.2 r.? - - intronic 34 0 0 49 7 14.3 59 10 16.9 118 23 19.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.337470588 1.337470588 1 1.335050147 1.335050147 1 1.004173228 1.004173228 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.58E-09 1 4.91E-13 1 1.33E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 117429749 G T - - - - - - 29 0 0 53 7 13.2 62 8 12.9 110 14 12.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.234588235 1.234588235 1 1.019061947 1.019061947 1 0.654 0.654 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.85E-09 1 1.04E-09 1 7.16E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 117523007 G T - - - - - - 26 0 0 34 4 11.8 47 6 12.8 136 22 16.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.103647059 1.103647059 1 1.011162242 1.011162242 1 0.83423622 0.83423622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 0.000000141 1 1.77E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 120213072 C T - - - - - - 32 0 0 46 5 10.9 59 11 18.6 109 14 12.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.019470588 1.019470588 1 1.469345133 1.469345133 1 0.659149606 0.659149606 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000361 1 1.1E-14 1 6.28E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 56575473 T C - - - - - - 25 0 0 28 0 0 31 0 0 48 6 12.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.268700787 0.268700787 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.00000016 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 120452897 A T - - - - - - 26 0 0 41 6 14.6 53 9 17 135 20 14.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.365529412 1.365529412 1 1.342949853 1.342949853 1 0.762141732 0.762141732 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.05E-08 1 7.1E-12 1 2.08E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 122108316 T A - - - - - - 23 0 0 52 7 13.5 54 8 14.8 111 20 18 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.262647059 1.262647059 1 1.169156342 1.169156342 1 0.926929134 0.926929134 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.58E-09 1 3.31E-10 1 3.31E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 124543520 C A FBXO32 CCDS6345.1 r.? - - intronic 32 0 0 36 5 13.9 29 0 0 126 30 23.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.300058824 1.300058824 1 0 0 1 1.225606299 1.225606299 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000104 1 1 1 5.27E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 126834817 A G - - - - - - 39 0 0 43 7 16.3 54 10 18.5 98 19 19.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.687529412 1.687529412 1 1.39464575 1.39464575 1 0.805023622 0.805023622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.15E-09 1 1.91E-13 1 1.13E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 127855706 T G - - - - - - 30 0 0 42 3 7.1 31 6 19.4 86 21 24.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735058824 0.735058824 1 1.462493381 1.462493381 1 1.012503937 1.012503937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001240292 1 1.03E-08 1 2.01E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 128282680 C A - - - - - - 33 0 0 47 11 23.4 56 18 32.1 96 73 76 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.422588235 0.807529412 3 2.419898842 1.024912125 2.361079338 3.153700787 1.051233596 3 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.21E-16 1 6.76E-28 1 8.11E-147 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 129072862 C T PVT1 CCDS3617.1 r.? - - intronic 21 0 0 43 5 11.6 38 3 7.9 75 20 26.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.200941176 1.200941176 1 0.595551428 0.595551428 1 1.107944882 1.107944882 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000257 1 0.000925091 1 5.89E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 129252304 C T - - - - - - 32 0 0 35 12 34.3 30 8 26.7 87 68 78.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.551058824 0.887764706 4 2.012813056 1.006406528 2 3.244992126 1.081664042 3 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.83E-19 1 2.07E-12 1 2.16E-138 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 129541311 T G - - - - - - 41 0 0 46 6 13 48 6 12.5 87 25 28.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.345882353 1.345882353 1 0.94232821 0.94232821 1 1.190937008 1.190937008 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000123 1 0.00000016 1 9.55E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 79228730 C T FRAS1 ENST00000264895 r.? - - intronic 24 0 0 32 0 0 2 0 0 63 11 17.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.551181102 0.551181102 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.37E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 131744019 T G - - - - - - 37 0 0 37 3 8.1 55 6 10.9 82 14 17.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838588235 0.838588235 1 0.821710199 0.821710199 1 0.709582677 0.709582677 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000855237 1 0.000000367 1 9.77E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 135550216 G C ZFAT CCDS47924.1 r.? - - intronic 35 0 0 51 5 9.8 49 7 14.3 106 25 23.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.014588235 1.014588235 1 NA NA 1 1.215307087 1.215307087 1 NA NA 1 NA NA 1 NA NA 0 NA NA 1 1 0.00000606 1 5.58E-09 1 2.57E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 135748006 T A - - - - - - 28 0 0 52 19 36.5 47 15 31.9 107 62 57.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.614563244 1.204854415 3 2.738226224 0.912742075 3 2.981622047 0.993874016 3 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.24E-30 1 1.97E-23 1 5.66E-113 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 136062725 G A - - - - - - 35 0 0 53 18 34 53 16 30.2 102 62 60.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.366990419 1.12233014 3 2.592301942 1.119338209 2.315923749 3.13096063 1.043653543 3 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.09E-28 1 1.9E-24 1 6.67E-115 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 137024399 G A - - - - - - 30 0 0 34 4 11.8 47 5 10.6 106 18 17 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.168543734 1.168543734 1 0.909880814 0.909880814 1 0.875433071 0.875433071 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 0.00000402 1 2.43E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 137904556 G A - - - - - - 44 0 0 44 7 15.9 43 10 23.3 119 23 19.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.574563166 1.574563166 1 2.000021035 1.000010517 2 0.993874016 0.993874016 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.55E-09 1 1.61E-14 1 1.63E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 137974491 G A - - - - - - 29 0 0 41 5 12.2 61 8 13.1 89 17 19.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.208155386 1.208155386 1 1.124475346 1.124475346 1 0.983574803 0.983574803 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000202 1 9.09E-10 1 4.11E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 139154790 G A FAM135B CCDS6375.2 r.? - - intronic 31 0 0 44 8 18.2 31 4 12.9 74 12 16.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.802330165 1.802330165 1 1.107307783 1.107307783 1 0.83423622 0.83423622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.9E-11 1 0.0000177 1 4.02E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 501265 G A SLC9A3 CCDS3855.1 r.? - - intronic 30 0 0 35 18 51.4 4 1 25 51 36 70.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.93336052 1.710520273 2.299511197 1.537813446 1.537813446 1 2.929622047 0.976540682 3 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.6E-32 1 0.019850499 1 4.31E-71 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 143699795 G C ARC CCDS34950.1 r.? - - upstream 35 0 0 54 10 18.5 7 0 0 104 32 30.8 112 0 0 0 0 NA 7 0 0 1 9 2 22.2 FALSE FALSE 1.779798416 0.889899208 2 0 NA 0 1.89407874 0.94703937 2 NA NA 1 0 NA 0 1.365212598 1.365212598 1 NA NA 1 1 1.91E-13 1 1 1 1.05E-47 0.000879235 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 146130152 G A ZNF250 CCDS34972.1 r.? - - upstream 33 0 0 48 6 12.5 39 4 10.3 134 22 16.4 1 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.202566497 1.202566497 1 0.539981416 0.539981416 1 1.008535433 1.008535433 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000016 1 0.0000447 1 1.25E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 1511271 C T - - - - - - 30 0 0 40 9 22.5 62 18 29 89 35 39.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.429411765 1.429411765 1 1.420914454 1.420914454 1 1.661046781 0.863768026 1.923024158 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.64E-13 1 5.72E-27 1 1.55E-56 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 1924588 C A - - - - - - 31 0 0 40 10 25 44 4 9.1 93 45 48.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.588235294 1.588235294 1 0.445873156 0.445873156 1 2.045665756 1.022832878 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.22E-15 1 0.0000723 1 1.75E-77 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 4122046 A G GLIS3 CCDS6451.1 r.? - - intronic 37 0 0 44 7 15.9 43 9 20.9 97 18 18.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.010117647 1.010117647 1 1.559759898 1.559759898 1 0.786144278 0.786144278 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 2.55E-09 1 9.45E-13 1 4.4E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 4487521 C G SLC1A1 CCDS6452.1 r.? - - upstream 19 0 0 63 13 20.6 74 10 13.5 141 28 19.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.750705882 0.916901961 3 1.336460177 1.336460177 1 1.422771654 0.711385827 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.01E-17 1 5.24E-12 1 6.02E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 5227566 T C INSL4 CCDS6459.1 r.? - - upstream 33 0 0 68 35 51.5 77 36 46.8 168 120 71.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 6.876764706 0.982394958 7 4.366524862 1.091631215 4 5.104818898 1.02096378 5 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 6.85E-62 1 1.39E-61 1 1.8E-234 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 5786153 G C ERMP1 CCDS34983.1 r.3796c>g c.? p.? 3'UTR variant 28 0 0 33 5 15.2 30 7 23.3 43 23 53.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.965647059 0.965647059 1 2.173932249 1.086966125 2 3.07333485 1.02444495 3 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 1.44E-10 1 1.04E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 6600275 G A GLDC CCDS34987.1 r.? - - intronic 28 0 0 49 8 16.3 40 3 7.5 118 26 22 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.794746076 1.794746076 1 0.6997636 0.6997636 1 1.263801247 1.263801247 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.47E-10 1 0.001075403 1 8.93E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 6612637 G A GLDC CCDS34987.1 r.? - - intronic 29 0 0 41 8 19.5 23 2 8.7 105 32 30.5 0 0 NA 1 0 0 0 0 NA 1 0 0 NA TRUE FALSE 2.147088864 1.073544432 2 0.811725776 0.811725776 1 1.752088092 1.098525835 1.594944822 0 0 1 NA NA 1 NA NA 0 9 NA 1 1 3.22E-11 1 0.00589844 1 1.5E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 6921800 C G KDM4C CCDS6471.1 r.? - - intronic 21 0 0 51 6 11.8 53 5 9.4 111 16 14.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.299264031 1.299264031 1 0.877037045 0.877037045 1 0.827215361 0.827215361 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000000232 1 0.00000734 1 7.95E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 7518720 C T - - - - - - 27 0 0 51 6 11.8 54 6 11.1 101 21 20.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.299264031 1.299264031 1 1.035650127 1.035650127 1 1.194866633 1.194866633 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000000232 1 0.000000329 1 8.38E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 7892490 T C - - - - - - 31 0 0 54 18 33.3 50 8 16 131 33 25.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.666567137 1.002404795 3.657770947 1.492829013 1.492829013 1 1.447626883 0.90763446 1.594944822 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 3.12E-28 1 1.74E-10 1 7.48E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 8411223 A G PTPRD CCDS43786.1 r.? - - intronic 29 0 0 47 24 51.1 59 26 44.1 104 68 65.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 5.626473895 1.207975652 4.657770947 4.114609966 1.028652491 4 3.756936433 1.045060945 3.594944822 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 8.6E-43 1 5.03E-44 1 3.17E-129 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 10292635 C A PTPRD CCDS43786.1 r.? - - intronic 25 0 0 51 16 31.4 59 9 15.3 93 28 30.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.457363607 0.945210528 3.657770947 1.427517743 1.427517743 1 1.729109888 1.084118938 1.594944822 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 9.28E-25 1 1.96E-11 1 1.25E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 10307018 C T PTPRD CCDS43786.1 r.? - - intronic 23 0 0 41 16 39 50 24 48 115 71 61.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 4.294177728 1.073544432 4 4.478487038 1.119621759 4 3.544388042 0.985936702 3.594944822 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.4E-26 1 6.39E-42 1 4.41E-132 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 11090802 C A - - - - - - 30 0 0 40 9 22.5 56 6 10.7 111 15 13.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.477410228 0.932138351 2.657770947 0.998329402 0.998329402 1 0.775514401 0.775514401 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 4.64E-13 1 0.000000409 1 2.64E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 11158831 T A - - - - - - 32 0 0 52 9 17.3 55 2 3.6 107 13 12.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.904853197 0.952426599 2 0.335886528 0.335886528 1 0.695090686 0.695090686 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 5.92E-12 1 0.031164417 1 1.43E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 11446720 C T - - - - - - 30 0 0 56 7 12.5 60 13 21.7 144 23 16 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.376339015 1.376339015 1 2.024649348 1.012324674 2 0.919128179 0.919128179 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.46E-08 1 5.07E-18 1 1.77E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 11612749 C G - - - - - - 29 0 0 61 8 13.1 75 13 17.3 186 37 19.9 6 0 0 24 3 12.5 33 4 12.1 0.000324533 11 2 18.2 TRUE TRUE 1.442403288 1.442403288 1 1.61412137 1.028414788 1.569523686 1.143165673 1.143165673 1 1.376339015 1.376339015 1 1.128951941 1.128951941 1 1.045508304 1.045508304 1 9 12 1 1 9.09E-10 0.000233853 1.16E-16 0.0000228 5.14E-47 0.001334363 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 11612758 C T - - - - - - 32 0 0 62 8 12.9 74 14 18.9 180 35 19.4 7 0 0 31 3 9.7 42 4 9.5 0.000826484 13 2 15.4 TRUE TRUE 1.420381864 1.420381864 1 1.763404271 0.881702136 2 1.114442918 1.114442918 1 1.068039076 1.068039076 1 0.886367226 0.886367226 1 0.884660873 0.884660873 1 9 11 1 1 1.04E-09 0.000505952 2.1E-18 0.0000601 3.47E-44 0.001879825 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 7468296 C T TNFSF13 CCDS11112.1 r.? - - downstream 22 0 0 30 7 23.3 13 4 30.8 54 21 38.9 198 0 0 38 2 5.3 49 9 18.4 1.43E-09 42 23 54.8 TRUE TRUE 1.480235294 1.480235294 1 1.579167909 1.579167909 1 0.83619685 0.83619685 1 0.336705882 0.336705882 1 0.943399011 0.943399011 1 1.177984252 1.177984252 1 9 11 1 1 1.44E-10 0.015598339 0.000000431 3.35E-12 2.12E-34 4.86E-42 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 17 15343607 A C CDRT4 CCDS32572.1 r.235-8u>g c.? p.? splice region 35 0 0 28 5 17.9 25 8 32 52 21 40.4 81 0 0 115 13 11.3 107 16 15 1.84E-14 97 45 46.4 TRUE TRUE 1.137176471 1.137176471 1 1.640693932 1.640693932 1 0.868440945 0.868440945 1 0.717882353 0.717882353 1 0.76907528 0.76907528 1 0.997417323 0.997417323 1 9 11 1 1 0.000000279 3.71E-14 3.92E-13 4.31E-19 7.89E-35 2.2E-76 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 21 34617295 G A IFNAR2 CCDS13621.1 r.463g>a c.137G>A p.R46Q missense 33 0 0 32 2 6.2 43 4 9.3 65 23 35.4 180 0 0 189 23 12.2 188 25 13.3 1.80E-20 171 38 22.2 TRUE TRUE 0.455882353 0.455882353 1 0.548672566 0.548672566 1 1.11496063 1.11496063 1 0.897058824 0.897058824 1 0.784660767 0.784660767 1 0.699212598 0.699212598 1 9 11 1 1 0.011224977 1.18E-24 0.000066 1.18E-27 2.21E-36 3.03E-50 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 17 50395365 G T - - - - - - 38 0 0 45 7 15.6 55 5 9.1 83 25 30.1 25 0 0 286 18 6.3 247 12 4.9 9.43E-06 282 29 10.3 TRUE TRUE 1.270416133 1.270416133 1 0.354873156 0.354873156 1 1.220602008 1.220602008 1 0.513052669 0.648816165 0.790751982 0.191085546 0.191085546 1 0.417681086 0.417681086 1 6 10 1 1 0.000000003 1.59E-14 0.00000883 6.78E-09 2.44E-37 1.59E-28 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 17 50395555 G C - - - - - - 31 0 0 39 7 17.9 36 2 5.6 66 16 24.2 69 0 0 207 13 6.3 179 5 2.8 0.034896215 174 18 10.3 TRUE TRUE 1.457721075 1.457721075 1 0.218383481 0.218383481 1 0.981347794 0.981347794 1 0.513052669 0.648816165 0.790751982 0.10919174 0.10919174 1 0.417681086 0.417681086 1 6 10 1 1 1.04E-09 6.95E-11 0.014070883 0.002204831 1.03E-22 2.45E-18 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 16 54319015 C G IRX3 CCDS10750.1 r.1194g>c c.778G>C p.D260H missense 14 0 0 10 1 10 2 1 50 37 14 37.8 197 0 0 29 6 20.7 39 1 2.6 0.324270951 31 5 16.1 TRUE FALSE 0.779270925 0.779270925 1 2.733919565 2.733919565 1 1.190551181 1.190551181 1 1.613090816 1.613090816 1 0.142163817 NA 0 0.507086614 0.507086614 1 9 NA 1 1 0.04888987 6.72E-09 0.009975 0.177567718 3.35E-23 0.000000476 YES 1_1 1_0 1_1 somatic custom.pulldown.HiSeq PD9777b 11 105881248 C G KIAA1826 CCDS31663.1 r.1813g>c c.397G>C p.D133H missense 30 0 0 35 4 11.4 41 3 7.3 51 12 23.5 176 0 0 316 34 10.8 380 64 16.8 1.59E-56 366 119 32.5 TRUE TRUE 0.814774852 0.814774852 1 0.430678466 0.430678466 1 0.74015748 0.74015748 1 0.771891965 0.771891965 1 0.991150442 0.991150442 1 1.023622047 1.023622047 1 9 12 1 1 0.0000289 7.73E-34 0.001155993 4.12E-75 3.24E-17 3.47E-176 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 9 11643632 C T - - - - - - 27 0 0 62 7 11.3 78 16 20.5 179 47 26.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.24421047 1.24421047 1 1.912687172 0.956343586 2 1.510816945 0.947253425 1.594944822 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 3.02E-08 1 1.96E-21 1 1.43E-65 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 11643707 C T - - - - - - 33 0 0 58 12 20.7 84 13 15.5 180 44 24.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.27921741 1.139608705 2 1.446178106 1.446178106 1 1.401670474 0.878820668 1.594944822 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.76E-16 1 5.49E-16 1 6.03E-60 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 11643904 C T - - - - - - 34 0 0 59 7 11.9 78 21 26.9 173 35 20.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.310274743 1.310274743 1 2.509818777 0.976764211 2.569523686 1.160399327 1.160399327 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 2.12E-08 1 1.99E-30 1 7.68E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 11643937 C G - - - - - - 34 0 0 62 8 12.9 78 24 30.8 185 36 19.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.420381864 1.420381864 1 2.873695849 0.957898616 3 1.120187469 1.120187469 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.04E-09 1 3.63E-36 1 2.05E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 1025921 C T NKD2 CCDS3859.1 r.? - - intronic 27 0 0 32 1 3.1 4 0 0 68 6 8.8 125 7 5.6 2 1 50 8 0 0 1 13 0 0 FALSE FALSE 0.237226024 0.237226024 1 0 NA 0 0.365165354 0.365165354 1 3.826226187 3.826226187 1 0 NA 0 0 0 1 NA NA 1 0.00000372 0.14819814 0.009975 1 1 0.00000131 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 10584759 C T KLRC2 CCDS31745.1 r.537g>a c.530G>A p.R177H missense 12 0 0 18 3 16.7 36 6 16.7 67 16 23.9 7 0 0 128 17 13.3 228 41 18 4.91E-38 283 72 25.4 TRUE TRUE 1.728941176 1.728941176 1 1.203598861 1.203598861 1 1.469755906 1.469755906 1 1.376941176 1.376941176 1 1.297292186 0.766482777 1.692526204 1.562 0.781 2 9 11 1 1 0.0000964 2.78E-19 2.68E-08 5.59E-50 1.35E-22 2.05E-98 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 16828480 C G - - - - - - 26 0 0 32 4 12.5 33 0 0 84 0 0 101 0 0 230 23 10 444 0 0 1 541 0 0 TRUE TRUE 1.017091441 1.017091441 1 0 0 1 0 0 1 0.813673153 0.813673153 1 0 0 1 0 0 1 8 6 1 1 0.0000201 1.14E-22 1 1 1 1 YES 1_1 0_0 0_0 somatic custom.pulldown.HiSeq PD9777b 9 12058948 G A - - - - - - 17 0 0 63 11 17.5 61 5 8.2 140 21 15 0 0 NA 0 0 NA 0 0 NA 1 1 0 0 TRUE FALSE 1.926874622 0.963437311 2 0.765074869 0.765074869 1 0.861682668 0.861682668 1 NA NA 1 NA NA 1 0 NA 0 9 NA 1 1 2.37E-14 1 0.0000147 1 1.28E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 13339680 A C - - - - - - 24 0 0 61 4 6.6 65 2 3.1 181 17 9.4 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.881294118 0.881294118 1 0.343220498 0.343220498 1 0.766062992 0.766062992 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000259828 1 0.042252341 1 1.09E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 10498099 T A - - - - - - 90 0 0 86 5 5.8 94 6 6.4 154 17 11 278 2 0.7 563 32 5.7 736 42 5.7 6.18E-19 674 57 8.5 TRUE TRUE 0.368470588 0.368470588 1 0.313581121 0.313581121 1 0.243985911 0.243985911 1 0.362117647 0.362117647 1 0.279283186 0.279283186 1 0.188534567 0.188534567 1 4 6 1 0.405048245 0.0000777 2.84E-23 0.00000873 4.23E-30 6.92E-18 1.23E-49 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 9 14974128 C T - - - - - - 26 0 0 69 40 58 71 43 60.6 184 140 76.1 0 0 NA 0 0 NA 0 0 NA 1 1 1 100 TRUE FALSE 7.744705882 1.106386555 7 6.709407158 1.118234526 6 6.201850394 1.033641732 6 NA NA 1 NA NA 1 8.149606299 8.149606299 1 9 NA 1 1 1.87E-73 1 4.58E-80 1 3.59E-280 0.005 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 15209586 C G TTC39B CCDS6477.1 r.? - - intronic 20 0 0 86 7 8.1 84 11 13.1 182 19 10.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.081588235 1.081588235 1 1.450383396 1.450383396 1 0.847559055 0.847559055 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000000297 1 6.49E-13 1 2.38E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 15214388 G C TTC39B CCDS6477.1 r.? - - intronic 32 0 0 58 5 8.6 63 9 14.3 155 11 7.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.148352941 1.148352941 1 1.583242943 1.583242943 1 0.578622047 0.578622047 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000115 1 3.62E-11 1 5.46E-10 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 16649124 C T BNC2 CCDS6482.2 r.? - - intronic 31 0 0 53 6 11.3 68 9 13.2 142 19 13.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.508882353 1.508882353 1 1.461455025 1.461455025 1 1.092047244 1.092047244 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000000293 1 7.38E-11 1 1.94E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 23583682 A G - - - - - - 33 0 0 28 5 17.9 19 4 21.1 39 16 41 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.137176471 1.137176471 1 1.033837758 1.033837758 1 0.881338583 0.881338583 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000279 1 0.00000228 1 5.16E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 24744910 T C - - - - - - 27 0 0 35 8 22.9 55 13 23.6 35 17 48.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.454823529 1.454823529 1 1.156330383 1.156330383 1 1.044708661 1.044708661 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.15E-12 1 1.46E-18 1 3.18E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 25822117 C T - - - - - - 36 0 0 19 5 26.3 25 6 24 46 25 54.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.670823529 1.670823529 1 1.175929204 1.175929204 1 1.16723622 1.16723622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.43E-08 1 2.55E-09 1 1.87E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 25867256 C A - - - - - - 27 0 0 27 8 29.6 36 5 13.9 54 27 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.880470588 1.880470588 1 0.681058997 0.681058997 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.97E-13 1 0.00000104 1 1.27E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 26179053 G C - - - - - - 28 0 0 26 4 15.4 35 2 5.7 42 18 42.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.978352941 0.978352941 1 0.279283186 0.279283186 1 0.922181102 0.922181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000856 1 0.013332991 1 1.2E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 28195796 A T LINGO2 CCDS6524.1 r.? - - intronic 45 0 0 28 4 14.3 26 4 15.4 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 0.754554572 0.754554572 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.0000116 1 0.00000856 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 29192825 T G - - - - - - 32 0 0 39 4 10.3 25 3 12 49 17 34.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.654352941 0.654352941 1 0.587964602 0.587964602 1 0.745913386 0.745913386 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000447 1 0.00026475 1 4.26E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 31474987 C T - - - - - - 35 0 0 31 6 19.4 38 12 31.6 40 23 57.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.232470588 1.232470588 1 1.548306785 1.548306785 1 1.236023622 1.236023622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.03E-08 1 5.86E-19 1 9.75E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 33756038 G A PRSS3 CCDS47958.1 r.? - - intronic 31 0 0 19 4 21.1 36 8 22.2 40 13 32.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.340470588 1.340470588 1 1.087734513 1.087734513 1 0.698622047 0.698622047 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000228 1 1.04E-11 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 34511655 T A DNAI1 CCDS6557.1 r.? - - intronic 30 0 0 32 9 28.1 33 5 15.2 59 33 55.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.785176471 1.785176471 1 0.744755162 0.744755162 1 1.201629921 1.201629921 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.94E-14 1 0.00000066 1 4.06E-60 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 68509278 C T - - - - - - 34 0 0 36 4 11.1 23 6 26.1 51 23 45.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 1.539823009 1.539823009 1 1.420472441 1.420472441 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000324 1 1.47E-09 1 2.05E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 71025273 A C PGM5 CCDS6622.2 r.? - - intronic 30 0 0 30 6 20 32 4 12.5 60 14 23.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 0.737463127 0.737463127 1 0.733858268 0.733858268 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.37E-09 1 0.0000201 1 8.54E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 71680553 A G FXN CCDS6626.1 r.? - - intronic 24 0 0 35 9 25.7 27 6 22.2 64 17 26.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.889705882 1.889705882 1 1.309734513 1.309734513 1 0.837795276 0.837795276 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.23E-13 1 4.23E-09 1 8.43E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 74789156 G T GDA CCDS6641.1 r.? - - intronic 24 0 0 42 9 21.4 38 6 15.8 68 21 30.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.573529412 1.573529412 1 0.932153392 0.932153392 1 0.973228346 0.973228346 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.51E-13 1 3.76E-08 1 7.15E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 76027203 G C - - - - - - 33 0 0 38 7 18.4 36 8 22.2 64 17 26.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.352941176 1.352941176 1 1.309734513 1.309734513 1 0.837795276 0.837795276 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.61E-10 1 1.04E-11 1 8.43E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 78411838 A C - - - - - - 39 0 0 30 4 13.3 37 7 18.9 63 20 31.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.977941176 0.977941176 1 1.115044248 1.115044248 1 0.998425197 0.998425197 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000154 1 7.05E-10 1 1.05E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 78510588 G C PCSK5 CCDS6652.1 r.? - - intronic 34 0 0 32 5 15.6 31 3 9.7 64 16 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.147058824 1.147058824 1 0.572271386 0.572271386 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 0.000505952 1 5.94E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 78929138 G A PCSK5 ENST00000376754 r.? - - intronic 24 0 0 32 6 18.8 32 4 12.5 69 16 23.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.382352941 1.382352941 1 0.737463127 0.737463127 1 0.730708661 0.730708661 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.27E-08 1 0.0000201 1 2.27E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 79013183 G A ENSG00000250683 CCDS35044.1 r.? - - upstream 39 0 0 35 5 14.3 41 1 2.4 66 23 34.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 0.14159292 0.14159292 1 1.096062992 1.096062992 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.000000895 1 0.18577148 1 3.38E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 80998817 T G - - - - - - 42 0 0 35 4 11.4 46 6 13 68 18 26.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838235294 0.838235294 1 0.766961652 0.766961652 1 0.834645669 0.834645669 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000289 1 0.000000123 1 3.83E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 81359110 C T - - - - - - 37 0 0 37 4 10.8 47 8 17 65 20 30.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 1.002949853 1.002949853 1 0.97007874 0.97007874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000362 1 1.03E-10 1 2.18E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 81477060 A T - - - - - - 28 0 0 35 5 14.3 38 9 23.7 57 17 29.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 1.398230088 1.398230088 1 0.938582677 0.938582677 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000895 1 2.79E-13 1 8.82E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 82065527 G A - - - - - - 27 0 0 37 6 16.2 45 2 4.4 68 26 38.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.191176471 1.191176471 1 0.259587021 0.259587021 1 1.203149606 1.203149606 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.18E-08 1 0.021467209 1 5.33E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 82313873 T G TLE4 CCDS43837.1 r.? - - intronic 28 0 0 30 6 20 35 8 22.9 62 24 38.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 1.351032448 1.351032448 1 1.218897638 1.218897638 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.37E-09 1 8.15E-12 1 4.81E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 82784166 G C - - - - - - 18 0 0 35 7 20 42 7 16.7 72 25 34.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 0.985250737 0.985250737 1 1.092913386 1.092913386 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.65E-10 1 1.81E-09 1 3.63E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 83005365 G A - - - - - - 28 0 0 41 5 12.2 41 3 7.3 72 26 36.1 0 0 NA 0 0 NA 0 0 NA 1 1 0 0 TRUE FALSE 0.897058824 0.897058824 1 0.430678466 0.430678466 1 1.137007874 1.137007874 1 NA NA 1 NA NA 1 0 0 1 9 NA 1 1 0.00000202 1 0.001155993 1 3.29E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 83383107 G T - - - - - - 31 0 0 28 5 17.9 33 6 18.2 64 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.316176471 1.316176471 1 1.073746313 1.073746313 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.000000279 1 1.54E-08 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 85040026 G C - - - - - - 40 0 0 42 5 11.9 30 6 20 43 10 23.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.875 0.875 1 1.179941003 1.179941003 1 0.733858268 0.733858268 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000228 1 8.37E-09 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 88140596 G A - - - - - - 40 0 0 41 4 9.8 29 5 17.2 85 20 23.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.720588235 0.720588235 1 1.014749263 1.014749263 1 0.74015748 0.74015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000546 1 0.000000336 1 9.82E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 1590245 A C - - - - - - 12 0 0 9 1 11.1 7 0 0 16 5 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.849422213 0.849422213 1 0 NA 0 1.294677165 1.294677165 1 NA NA 0 NA NA 0 NA NA 1 NA NA 1 1 0.044110422 1 1 1 0.000000013 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 89985187 C G - - - - - - 23 0 0 42 6 14.3 34 6 17.6 63 24 38.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 1.038348083 1.038348083 1 1.2 1.2 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.02E-08 1 1.86E-08 1 7.74E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 90657062 A G - - - - - - 32 0 0 39 8 20.5 43 6 14 72 23 31.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.507352941 1.507352941 1 0.825958702 0.825958702 1 1.004724409 1.004724409 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.09E-11 1 8.13E-08 1 3.67E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 92799488 C A - - - - - - 21 0 0 32 8 25 24 9 37.5 63 22 34.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.838235294 1.838235294 1 2.212389381 2.212389381 1 1.099212598 1.099212598 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.69E-12 1 2.39E-15 1 1.03E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 93047080 C G - - - - - - 40 0 0 35 10 28.6 34 5 14.7 60 22 36.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.102941176 2.102941176 1 0.867256637 0.867256637 1 1.155905512 1.155905512 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.6E-15 1 0.000000771 1 2.81E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 95354313 T C CENPP CCDS35063.1 r.? - - intronic 31 0 0 32 5 15.6 34 8 23.5 65 17 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.147058824 1.147058824 1 1.386430678 1.386430678 1 0.82519685 0.82519685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 6.32E-12 1 1.14E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 96965003 T A - - - - - - 25 0 0 35 5 14.3 37 4 10.8 58 22 37.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 0.637168142 0.637168142 1 1.193700787 1.193700787 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000895 1 0.0000362 1 1.13E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 98122902 G C - - - - - - 30 0 0 40 6 15 27 5 18.5 53 16 30.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.102941176 1.102941176 1 1.091445428 1.091445428 1 0.951181102 0.951181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.18E-08 1 0.00000023 1 1.9E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 99029852 T A HSD17B3 CCDS6716.1 r.? - - intronic 27 0 0 31 6 19.4 22 5 22.7 72 19 26.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.426470588 1.426470588 1 1.339233038 1.339233038 1 0.831496063 0.831496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.03E-08 1 7.67E-08 1 1.75E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 100577967 C T - - - - - - 31 0 0 36 6 16.7 44 8 18.2 68 17 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 1.073746313 1.073746313 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.68E-08 1 5.9E-11 1 2.69E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 102177153 G A - - - - - - 32 0 0 38 6 15.8 40 6 15 69 24 34.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.161764706 1.161764706 1 0.884955752 0.884955752 1 1.096062992 1.096062992 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.76E-08 1 5.18E-08 1 1.11E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 103542027 C T - - - - - - 32 0 0 30 4 13.3 44 10 22.7 69 24 34.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.977941176 0.977941176 1 1.339233038 1.339233038 1 1.096062992 1.096062992 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000154 1 2.08E-14 1 1.11E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 103922699 C G ENSG00000148123 CCDS6751.1 r.? - - intronic 35 0 0 27 3 11.1 37 4 10.8 77 23 29.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.637168142 0.637168142 1 0.941732283 0.941732283 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000334187 1 0.0000362 1 2.24E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 104664872 G A - - - - - - 26 0 0 32 6 18.8 33 4 12.1 73 23 31.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.382352941 1.382352941 1 0.713864307 0.713864307 1 0.992125984 0.992125984 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.27E-08 1 0.0000228 1 5.33E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 105203511 G A - - - - - - 23 0 0 25 4 16 29 6 20.7 56 15 26.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.176470588 1.176470588 1 1.221238938 1.221238938 1 0.844094488 0.844094488 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000727 1 6.72E-09 1 4.09E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 105227672 C T - - - - - - 25 0 0 27 4 14.8 48 5 10.4 50 22 44 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.088235294 1.088235294 1 0.613569322 0.613569322 1 1.385826772 1.385826772 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00001 1 0.00000447 1 1.85E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 105543415 G T - - - - - - 32 0 0 34 7 20.6 30 6 20 65 20 30.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.514705882 1.514705882 1 1.179941003 1.179941003 1 0.97007874 0.97007874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.73E-10 1 8.37E-09 1 2.18E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 105614575 C T - - - - - - 21 0 0 25 6 24 30 5 16.7 58 16 27.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.764705882 1.764705882 1 0.985250737 0.985250737 1 0.869291339 0.869291339 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.55E-09 1 0.000000401 1 1E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 106090292 G A - - - - - - 30 0 0 31 6 19.4 45 5 11.1 66 17 25.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.426470588 1.426470588 1 0.654867257 0.654867257 1 0.812598425 0.812598425 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.03E-08 1 0.00000323 1 1.52E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 109403026 G A - - - - - - 41 0 0 35 5 14.3 42 5 11.9 84 29 34.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 0.702064897 0.702064897 1 1.086614173 1.086614173 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000895 1 0.00000228 1 4.21E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 112474688 G A PALM2 CCDS48002.1 r.? - - intronic 25 0 0 31 5 16.1 29 5 17.2 64 20 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.183823529 1.183823529 1 1.014749263 1.014749263 1 0.982677165 0.982677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000476 1 0.000000336 1 1.52E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 118276805 A G - - - - - - 35 0 0 37 6 16.2 38 8 21.1 73 32 43.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.191176471 1.191176471 1 1.244837758 1.244837758 1 1.379527559 1.379527559 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.18E-08 1 1.67E-11 1 9.69E-54 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 119318472 C G ASTN2 CCDS48009.1 r.? - - intronic 35 0 0 43 5 11.6 43 9 20.9 73 18 24.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.852941176 0.852941176 1 1.233038348 1.233038348 1 0.777952756 0.777952756 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000257 1 9.45E-13 1 1.62E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 119764751 A T ASTN2 CCDS48009.1 r.? - - intronic 34 0 0 39 4 10.3 49 1 2 77 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 0.1179941 0.1179941 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.0000447 1 0.217776325 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 120670088 T G - - - - - - 35 0 0 37 5 13.5 40 6 15 66 20 30.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.992647059 0.992647059 1 0.884955752 0.884955752 1 0.954330709 0.954330709 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000119 1 5.18E-08 1 3.11E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 121355435 G A - - - - - - 20 0 0 29 5 17.2 31 4 12.9 54 19 35.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.264705882 1.264705882 1 0.761061947 0.761061947 1 1.108661417 1.108661417 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000336 1 0.0000177 1 2.97E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 122151765 T G - - - - - - 35 0 0 41 5 12.2 21 2 9.5 60 19 31.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.897058824 0.897058824 1 0.560471976 0.560471976 1 0.998425197 0.998425197 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000202 1 0.004928472 1 3.21E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 122182746 G A - - - - - - 24 0 0 35 5 14.3 15 3 20 49 18 36.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 1.179941003 1.179941003 1 1.155905512 1.155905512 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000895 1 0.0000544 1 3.8E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 124464458 G T DAB2IP CCDS6833.2 r.? - - intronic 34 0 0 34 6 17.6 9 1 11.1 45 14 31.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.294117647 1.294117647 1 0.654867257 0.654867257 1 0.979527559 0.979527559 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.86E-08 1 0.044110422 1 8.81E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 127704139 C A GOLGA1 CCDS6860.1 r.? - - upstream 19 0 0 27 6 22.2 19 0 0 57 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.632352941 1.632352941 1 0 0 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 4.23E-09 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 127966668 C T RABEPK CCDS6862.1 r.? - - intronic 34 0 0 40 13 32.5 11 1 9.1 64 18 28.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.389705882 2.389705882 1 0.536873156 0.536873156 1 0.88503937 0.88503937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.3E-20 1 0.05364542 1 1.1E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 128807444 G A - - - - - - 38 0 0 35 4 11.4 35 4 11.4 72 23 31.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838235294 0.838235294 1 0.672566372 0.672566372 1 1.004724409 1.004724409 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000289 1 0.0000289 1 3.67E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 130668208 C G ST6GALNAC4 CCDS6883.1 r.? - - downstream 35 0 0 25 4 16 12 5 41.7 62 24 38.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.176470588 1.176470588 1 2.460176991 2.460176991 1 1.218897638 1.218897638 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000727 1 2.4E-09 1 4.81E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 135457691 G A BARHL1 CCDS6950.1 r.? - - upstream 18 0 0 5 3 60 2 0 0 55 17 30.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 4.411764706 4.411764706 1 0 0 1 0.973228346 0.973228346 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000124 1 1 1 4.35E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 135828205 G C GFI1B CCDS6957.1 r.? - - intronic 30 0 0 44 8 18.2 47 11 23.4 63 20 31.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.338235294 1.338235294 1 1.380530973 1.380530973 1 0.998425197 0.998425197 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.9E-11 1 7.21E-16 1 1.05E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 135853365 G A GFI1B CCDS6957.1 r.? - - intronic 30 0 0 23 5 21.7 11 1 9.1 63 13 20.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.595588235 1.595588235 1 0.536873156 0.536873156 1 0.648818898 0.648818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.75E-08 1 0.05364542 1 1.01E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 135853579 G C GFI1B CCDS6957.1 r.? - - intronic 26 0 0 22 3 13.6 19 3 15.8 59 17 28.8 0 0 NA 1 0 0 0 0 NA 1 1 1 100 TRUE FALSE 1 1 1 0.932153392 0.932153392 1 0.907086614 0.907086614 1 0 0 1 NA NA 1 3.149606299 3.149606299 1 9 NA 1 1 0.000179267 1 0.000114071 1 1.74E-25 0.005 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 137281268 C G RXRA CCDS35172.1 r.? - - intronic 30 0 0 27 5 18.5 3 0 0 29 17 58.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.175294118 1.175294118 1 0 NA 0 1.259669291 1.259669291 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.00000023 1 1 1 3.74E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 137303395 C G RXRA CCDS35172.1 r.? - - intronic 24 0 0 35 4 11.4 5 0 0 36 17 47.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.724235294 0.724235294 1 0 NA 0 1.014614173 1.014614173 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.0000289 1 1 1 6E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 6334408 T C - - - - - - 38 0 0 38 4 10.5 40 12 30 48 22 45.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.621834627 0.621834627 1 1.57926695 1.57926695 1 0.826755541 0.826755541 1 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 0.0000403 1 1.2E-18 1 5.76E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 7331282 G A - - - - - - 30 0 0 29 7 24.1 29 8 27.6 42 20 47.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.427258525 1.427258525 1 1.452925594 1.452925594 1 0.578960127 0.578960127 1 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 1.11E-10 1 1.53E-12 1 4.41E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 7617064 G C - - - - - - 30 0 0 30 7 23.3 35 13 37.1 46 28 60.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.379880649 1.379880649 1 1.953026794 1.953026794 1 0.740728398 0.740728398 1 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 1.44E-10 1 1.63E-21 1 9.63E-53 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 7766095 C T - - - - - - 34 0 0 18 6 33.3 36 10 27.8 45 19 42.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.972104103 1.972104103 1 1.46345404 1.46345404 1 0.513279776 0.513279776 1 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 2.75E-10 1 2.21E-15 1 4.11E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 8346531 G A ENSG00000227978 ENST00000418307 r.? - - intronic 28 0 0 23 4 17.4 38 4 10.5 42 18 42.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.030468811 1.030468811 1 0.552743432 0.552743432 1 0.723873461 0.723873461 1 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 0.00000513 1 0.0000403 1 1.2E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 8478261 C G ENSG00000227978 ENST00000418307 r.? - - intronic 32 0 0 26 3 11.5 25 0 0 53 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.681056973 0.681056973 1 0 0 1 0 0 1 NA NA 0 NA NA 1 NA NA 0 8 NA 1 1 0.000298167 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 18065908 C A - - - - - - 31 1 3.2 24 1 4.2 47 2 4.3 70 4 5.7 0 0 NA 37 0 0 58 1 1.7 0.441733861 27 1 3.7 TRUE FALSE 0.321403 0.321403 1 0.264503913 0.264503913 1 0.236527559 0.236527559 1 0 0 1 0.104571314 NA 0 0.153535433 0.153535433 1 4 NA 0.143917729 1 0.113346489 1 0.02328732 0.252280541 0.000440508 0.126579904 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 21602922 G A CNKSR2 CCDS14198.1 r.? - - intronic 31 0 0 27 6 22.2 32 3 9.4 38 17 44.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.314736069 1.314736069 1 0.494836978 0.494836978 1 0.960874016 0.960874016 1 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 4.23E-09 1 0.000556213 1 1.99E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 21612541 G A CNKSR2 CCDS14198.1 r.? - - intronic 25 0 0 36 6 16.7 27 8 29.6 50 16 32 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.989013169 0.989013169 1 1.558210057 1.558210057 1 0.687874016 0.687874016 1 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 2.68E-08 1 7.97E-13 1 6.4E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 21775178 A G SMPX CCDS14200.1 r.? - - intronic 28 0 0 35 5 14.3 27 8 29.6 45 21 46.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.84687954 0.84687954 1 1.558210057 1.558210057 1 1.003866142 1.003866142 1 NA NA 0 NA NA 0 NA NA 0 9 NA 1 1 0.000000895 1 7.97E-13 1 1.6E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 22612731 T C - - - - - - 50 0 0 24 6 25 38 7 18.4 35 9 25.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.480558636 1.480558636 1 0.968617062 0.968617062 1 0.658150992 0.658150992 1 NA NA 0 NA NA 0 NA NA 0 9 NA 1 1 1.95E-09 1 8.61E-10 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 26066277 G A - - - - - - 25 0 0 34 6 17.6 32 10 31.2 47 17 36.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.04231328 1.04231328 1 1.642437628 1.642437628 1 0.7269808 0.846677301 0.858627955 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 1.86E-08 1 5.7E-16 1 1.81E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 26357332 C A - - - - - - 34 0 0 31 6 19.4 37 3 8.1 39 18 46.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.148913502 1.148913502 1 0.426402076 0.426402076 1 0.927804226 0.927804226 1 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 1.03E-08 1 0.000855237 1 2.15E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 26380381 G A - - - - - - 45 0 0 35 7 20 32 8 25 34 14 41.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.184446909 1.184446909 1 1.316055791 1.316055791 1 0.827392513 0.827392513 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 4.65E-10 1 3.69E-12 1 7.74E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 28682182 C T IL1RAPL1 CCDS14218.1 r.? - - intronic 37 0 0 32 4 12.5 47 13 27.7 45 22 48.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.740279318 0.740279318 1 1.458189817 1.458189817 1 0.658263243 0.658263243 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 1.47E-19 1 8.79E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 29342178 G T IL1RAPL1 CCDS14218.1 r.? - - intronic 16 0 0 20 6 30 26 3 11.5 41 14 34.1 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.776670363 1.776670363 1 0.605385664 0.605385664 1 0.643390745 0.872784671 0.737170079 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 5.7E-10 1 0.000298167 1 1.9E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 29587292 A G IL1RAPL1 CCDS14218.1 r.? - - intronic 30 0 0 29 12 41.4 31 9 29 43 22 51.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.451805102 2.451805102 1 1.526624718 1.526624718 1 0.966029505 0.966029505 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 1.17E-20 1 3.57E-14 1 2.27E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 33134178 C T DMD CCDS14233.1 r.? - - intronic 18 0 0 26 6 23.1 8 3 37.5 51 21 41.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.236529412 1.236529412 1 2.212389381 2.212389381 1 0.548495948 0.548495948 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 3.3E-09 1 0.00000687 1 4.73E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 33576218 C T - - - - - - 39 0 0 32 7 21.9 33 7 21.2 50 22 44 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.172294118 1.172294118 1 1.250737463 1.250737463 1 0.585772372 0.585772372 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 2.36E-10 1 2.98E-10 1 1.85E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 33962138 A G - - - - - - 39 0 0 29 5 17.2 26 3 11.5 46 0 0 5 0 0 303 22 7.3 263 11 4.2 8.46E-05 198 0 0 TRUE TRUE 0.920705882 0.920705882 1 0.678466077 0.678466077 1 0 0 1 0.390764706 0.390764706 1 0.247787611 0.247787611 1 0 0 1 7 6 1 1 0.000000336 9.88E-19 0.000298167 0.00000013 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 36053714 T A CXorf59 ENST00000397458 r.? - - upstream 34 0 0 28 6 21.4 44 12 27.3 51 22 43.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.308102121 1.308102121 1 1.225969029 1.225969029 1 0.926480315 0.926480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.36E-09 1 4.44E-18 1 3.24E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 40858076 A C - - - - - - 25 0 0 31 6 19.4 16 3 18.8 36 19 52.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.185849586 1.185849586 1 0.84425706 0.84425706 1 0.949069888 0.949069888 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.03E-08 1 0.0000667 1 1.51E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 51295393 G A - - - - - - 47 0 0 27 5 18.5 30 7 23.3 54 25 46.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.130835946 1.130835946 1 1.046339867 1.046339867 1 0.832233633 0.832233633 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000023 1 1.44E-10 1 4.36E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 54399113 A T - - - - - - 43 0 0 33 6 18.2 31 5 16.1 54 23 42.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.112498066 1.112498066 1 0.723007376 0.723007376 1 0.765726841 1.181906038 0.647874549 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.54E-08 1 0.000000476 1 1.12E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 54420930 G A - - - - - - 31 0 0 28 5 17.9 12 2 16.7 34 21 61.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.094160185 1.094160185 1 0.74995175 0.74995175 1 1.110843164 1.110843164 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000000279 1 0.001595918 1 4.16E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 63694077 T G - - - - - - 37 0 0 37 4 10.8 29 6 20.7 37 19 51.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.660163687 0.660163687 1 0.929580912 0.929580912 1 0.923905156 0.923905156 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000362 1 6.72E-09 1 3.09E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 64533298 T A - - - - - - 27 0 0 22 4 18.2 22 5 22.7 50 19 38 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.112498066 1.112498066 1 1.019395493 1.019395493 1 0.683042722 1.054282381 0.647874549 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000425 1 7.67E-08 1 5E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 69090020 G A EDA CCDS14394.1 r.? - - intronic 28 0 0 23 5 21.7 40 7 17.5 53 25 47.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.326440001 1.326440001 1 0.785877582 0.785877582 1 0.84841096 0.84841096 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 9.75E-08 1 1.26E-09 1 2.35E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 72706129 C T - - - - - - 34 0 0 27 4 14.8 30 6 20 33 17 51.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.904668757 0.904668757 1 0.898145808 0.898145808 1 0.925702637 0.925702637 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00001 1 8.37E-09 1 8.25E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 74432872 T C - - - - - - 29 0 0 29 9 31 32 4 12.5 38 19 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.894914288 1.894914288 1 0.56134113 0.56134113 1 0.898740424 0.898740424 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.79E-14 1 0.0000201 1 6.16E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 74467588 C T - - - - - - 38 0 0 27 4 14.8 18 1 5.6 52 19 36.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.904668757 0.904668757 1 0.251480826 0.251480826 1 0.65608051 1.012665971 0.647874549 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00001 1 0.086275114 1 1.24E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 75526307 G A - - - - - - 32 0 0 29 4 13.8 36 0 0 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.843542489 0.843542489 1 0 0 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.0000134 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 75740764 C T - - - - - - 29 0 0 23 4 17.4 4 0 0 28 7 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.063597052 1.063597052 1 0 0 1 0.505953246 0.578757008 0.874206686 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000513 1 1 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 98125126 C T RGMB CCDS47251.1 r.? - - intronic 25 0 0 29 2 6.9 32 6 18.8 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.438352941 0.438352941 1 0.921144543 0.921144543 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.009279585 1 1.27E-08 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 77852221 G T - - - - - - 33 0 0 31 7 22.6 26 11 42.3 38 23 60.5 0 0 NA 0 0 NA 0 0 NA 1 1 0 0 TRUE FALSE 1.381453642 1.381453642 1 2.072575221 2.072575221 1 1.224406856 1.224406856 1 NA NA 0 NA NA 1 0 0 1 9 NA 1 1 1.85E-10 1 3.52E-19 1 1.72E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 79376190 C T - - - - - - 30 0 0 33 4 12.1 34 4 11.8 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.739627835 0.739627835 1 0.578165192 0.578165192 1 0 0 1 NA NA 0 NA NA 1 NA NA 1 7 NA 1 1 0.0000228 1 0.0000257 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 103984422 G A ENSG00000232402 ENST00000438939 r.? - - intronic 24 0 0 32 5 15.6 8 0 0 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.991058824 0.991058824 1 0 0 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.000000562 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 80274709 G C - - - - - - 26 0 0 21 7 33.3 21 3 14.3 46 19 41.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.035504702 2.035504702 1 0.700657817 0.700657817 1 0.835834763 0.835834763 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 8.54E-12 1 0.000155401 1 6.97E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 106239606 C A - - - - - - 30 0 0 32 4 12.5 36 10 27.8 34 13 38.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 1.362117994 1.362117994 1 0.821149606 0.821149606 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 2.21E-15 1 1.03E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 85677535 A T DACH2 CCDS48140.1 r.? - - intronic 27 0 0 30 4 13.3 28 6 21.4 33 13 39.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.756873199 0.756873199 1 1.156628564 1.156628564 1 0.729229326 0.729229326 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000154 1 5.36E-09 1 6.37E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 87979135 G A - - - - - - 26 0 0 35 6 17.1 26 8 30.8 50 20 40 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.973122685 0.973122685 1 1.664680363 1.664680363 1 0.761507562 0.761507562 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 2.24E-08 1 5.63E-13 1 3.9E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 88971606 C T - - - - - - 34 0 0 28 4 14.3 28 5 17.9 43 18 41.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.813780959 0.813780959 1 0.967460341 0.967460341 1 0.521742658 0.521742658 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000116 1 0.000000279 1 2.06E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 91773812 G C PCDH11X CCDS14461.1 r.? - - intronic 25 0 0 23 4 17.4 15 3 20 28 11 39.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.990195013 0.990195013 1 1.080961275 1.080961275 1 0.67861345 1.175810036 0.577145482 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00000513 1 0.0000544 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 93078167 A T - - - - - - 28 0 0 27 4 14.8 22 3 13.6 44 23 52.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.842234838 0.842234838 1 0.735053667 0.735053667 1 0.903091182 0.903091182 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00001 1 0.000179267 1 2.17E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 93119050 G A - - - - - - 36 0 0 35 5 14.3 34 8 23.5 36 17 47.2 0 0 NA 2 0 0 1 0 0 1 0 0 NA TRUE FALSE 0.813780959 0.813780959 1 1.270129498 1.270129498 1 0.815026841 0.815026841 1 0 NA 0 0 0 1 NA NA 1 9 NA 1 1 0.000000895 1 6.32E-12 1 6E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 96738977 A T DIAPH2 CCDS14467.1 r.? - - intronic 40 0 0 26 4 15.4 23 8 34.8 61 30 49.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.876379494 0.876379494 1 1.705097345 1.705097345 1 0.849561876 0.849561876 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00000856 1 1.79E-13 1 1.86E-52 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 98613172 G T - - - - - - 25 0 0 29 5 17.2 34 8 23.5 41 19 46.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.092705882 1.092705882 1 1.151430678 1.151430678 1 0.799486075 0.799486075 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000000336 1 6.32E-12 1 4.2E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 98617566 A C - - - - - - 38 0 0 26 6 23.1 31 5 16.1 34 14 41.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.467529412 1.467529412 1 0.788852507 0.788852507 1 0.711421734 1.232655814 0.577145482 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 3.3E-09 1 0.000000476 1 7.74E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 99067859 T A - - - - - - 37 0 0 31 4 12.9 23 2 8.7 28 16 57.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.819529412 0.819529412 1 0.426274336 0.426274336 1 0.985975267 0.985975267 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000177 1 0.00589844 1 4.39E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 102357746 C T ENSG00000226623 ENST00000416953 r.? - - intronic 26 0 0 26 4 15.4 8 3 37.5 46 19 41.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.978352941 0.978352941 1 1.837389381 1.837389381 1 0.887787402 0.887787402 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000856 1 0.00000687 1 6.97E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 102617780 T C WBP5 CCDS14507.1 r.? - - downstream 28 0 0 33 6 18.2 35 8 22.9 47 23 48.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.156235294 1.156235294 1 1.122032448 1.122032448 1 1.05115748 1.05115748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.54E-08 1 8.15E-12 1 1.71E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 108472443 C A - - - - - - 29 0 0 26 6 23.1 19 3 15.8 43 22 51.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.467529412 1.467529412 1 0.774153392 0.774153392 1 1.100598425 1.100598425 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.3E-09 1 0.000114071 1 2.27E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 109531964 C T AMMECR1 CCDS14551.1 r.? - - intronic 34 0 0 34 7 20.6 36 10 27.8 53 29 54.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.308705882 1.308705882 1 1.362117994 1.362117994 1 1.175834646 1.175834646 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.73E-10 1 2.21E-15 1 1.29E-52 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 112151811 G T - - - - - - 33 0 0 38 5 13.2 34 7 20.6 51 25 49 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838588235 0.838588235 1 1.009339233 1.009339233 1 1.053307087 1.053307087 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000137 1 3.73E-10 1 6.52E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 112494727 T C - - - - - - 32 0 0 27 5 18.5 28 6 21.4 50 24 48 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.175294118 1.175294118 1 1.048536873 1.048536873 1 1.031811024 1.031811024 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000023 1 5.36E-09 1 6.39E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 113390283 C T - - - - - - 41 0 0 29 5 17.2 21 4 19 45 12 26.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.092705882 1.092705882 1 0.930943953 0.930943953 1 0.573944882 0.573944882 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000336 1 0.00000349 1 6.03E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 113624156 G A - - - - - - 25 0 0 29 8 27.6 15 5 33.3 46 22 47.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.753411765 1.753411765 1 1.63160177 1.63160177 1 1.027511811 1.027511811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.53E-12 1 0.000000009 1 1.68E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 118565683 T C SLC25A43 CCDS14577.1 r.? - - intronic 35 0 0 18 5 27.8 19 5 26.3 42 15 35.7 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.766117647 1.766117647 1 1.288622419 1.288622419 1 0.767409449 0.767409449 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.54E-08 1 3.43E-08 1 2.65E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 119253094 T C RHOXF1 CCDS14593.1 r.? - - upstream 40 0 0 26 4 15.4 31 6 19.4 53 16 30.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.978352941 0.978352941 1 0.950542773 0.950542773 1 0.649181102 0.649181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000856 1 1.03E-08 1 1.9E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 120241216 G A - - - - - - 35 0 0 23 6 26.1 27 4 14.8 35 19 54.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.658117647 1.658117647 1 0.725156342 0.725156342 1 1.16723622 1.16723622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.47E-09 1 0.00001 1 7.18E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 121274043 C T - - - - - - 32 0 0 34 6 17.6 8 1 12.5 37 16 43.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.118117647 1.118117647 1 0.612463127 0.612463127 1 0.928629921 0.928629921 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.86E-08 1 0.039306956 1 1.78E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 122280059 G T - - - - - - 29 0 0 32 7 21.9 29 8 27.6 44 15 34.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.391294118 1.391294118 1 1.352318584 1.352318584 1 0.733015748 0.733015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.36E-10 1 1.53E-12 1 6.12E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 122381333 C A GRIA3 ENST00000264357 r.? - - intronic 21 0 0 26 7 26.9 25 2 8 45 18 40 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.708941176 1.708941176 1 0.391976401 0.391976401 1 0.85984252 0.85984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 4.73E-11 1 0.006948068 1 5.76E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 123676714 T C ODZ1 CCDS14609.1 r.? - 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- - - - - 19 0 0 29 4 13.8 25 5 20 30 9 30 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.876705882 0.876705882 1 0.979941003 0.979941003 1 0.64488189 0.64488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000134 1 0.000000153 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 138446217 G A CXorf19 ENST00000416227 r.? - - downstream 30 0 0 31 5 16.1 32 3 9.4 51 16 31.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.022823529 1.022823529 1 0.460572271 0.460572271 1 0.674976378 0.674976378 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000476 1 0.000556213 1 9.28E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 141954158 C T - - - - - - 34 0 0 28 6 21.4 39 10 25.6 38 16 42.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.359529412 1.359529412 1 1.254324484 1.254324484 1 0.904984252 0.904984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.36E-09 1 5.44E-15 1 3.06E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 142688884 G C - - - - - - 25 0 0 28 4 14.3 33 5 15.2 40 21 52.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 0.744755162 0.744755162 1 1.128543307 1.128543307 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000116 1 0.00000066 1 5.72E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 143978148 G T - - - - - - 28 0 0 33 6 18.2 38 6 15.8 43 17 39.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.156235294 1.156235294 1 0.774153392 0.774153392 1 0.849094488 0.849094488 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.54E-08 1 3.76E-08 1 2.84E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 144888069 A G - - - - - - 38 0 0 42 9 21.4 26 6 23.1 36 10 27.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.359529412 1.359529412 1 1.131831858 1.131831858 1 0.597590551 0.597590551 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.51E-13 1 3.3E-09 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 145180805 G A - - - - - - 29 0 0 28 7 25 19 2 10.5 44 20 45.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.588235294 1.588235294 1 0.514469027 0.514469027 1 0.978070866 0.978070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.44E-11 1 0.004039874 1 1.5E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 147356252 A G - - - - - - 37 0 0 38 5 13.2 29 8 27.6 45 17 37.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838588235 0.838588235 1 1.352318584 1.352318584 1 0.812551181 0.812551181 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000137 1 1.53E-12 1 7.37E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 147577769 A G AFF2 CCDS14684.1 r.? - - upstream 43 0 0 34 7 20.6 34 6 17.6 41 23 56.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.308705882 1.308705882 1 0.862348083 0.862348083 1 1.205929134 1.205929134 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.73E-10 1 1.86E-08 1 2.21E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 150372341 C T - - - - - - 40 0 0 19 5 26.3 34 6 17.6 48 26 54.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.670823529 1.670823529 1 0.862348083 0.862348083 1 1.165086614 1.165086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.43E-08 1 1.86E-08 1 3.67E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 1914821 A T KIAA1751 ENST00000270720 r.? - - intronic 32 0 0 39 0 0 4 2 50 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 2.379975707 2.379975707 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.000149002 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 2587257 C G TTC34 ENST00000401094 r.? - - intronic 146 0 0 144 0 0 28 3 10.7 214 0 0 40 0 0 1 0 0 1 0 0 1 4 0 0 TRUE FALSE 0 0 1 0.509314801 0.509314801 1 0 0 1 0 0 1 0 NA 0 0 0 1 3 NA 1 1 1 1 0.000372895 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 2759833 G A - - - - - - 35 0 0 43 5 11.6 15 6 40 60 21 35 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.852941176 0.852941176 1 1.903980565 1.903980565 1 1.102362205 1.102362205 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000257 1 7.52E-11 1 3.16E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 4223189 T C - - - - - - 20 0 0 18 3 16.7 29 7 24.1 52 15 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 1.380636295 1.380636295 1 0.907086614 0.907086614 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000964 1 1.11E-10 1 1.15E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 6992254 C T CAMTA1 CCDS30576.1 r.? - - intronic 26 0 0 29 3 10.3 38 6 15.8 66 24 36.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 0.905147446 0.905147446 1 1.146456693 1.146456693 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000414371 1 3.76E-08 1 3.04E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 10821083 C G CASZ1 CCDS41246.1 r.? - - intronic 32 0 0 31 0 0 13 3 23.1 54 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.323348482 1.323348482 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.0000344 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 12662071 G A DHRS3 CCDS146.1 r.? - - intronic 29 0 0 33 1 3 31 4 12.9 64 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.220588235 0.220588235 1 0.739012788 0.739012788 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 0.15245715 1 0.0000177 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 12849113 G T PRAMEF1 CCDS148.1 r.? - - upstream 31 0 0 49 3 6.1 35 6 17.1 74 13 17.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.448529412 0.448529412 1 0.979621603 0.979621603 1 0.554330709 0.554330709 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.001939399 1 2.24E-08 1 9.62E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 13914485 G A PDPN CCDS30602.1 r.? - - intronic 29 0 0 32 3 9.4 21 4 19 67 29 43.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.691176471 0.691176471 1 1.088468448 1.088468448 1 1.363779528 1.363779528 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000556213 1 0.00000349 1 1.22E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 19363695 A G - - - - - - 31 0 0 30 3 10 28 7 25 57 19 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 1.432195327 1.432195327 1 1.048818898 1.048818898 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000458697 1 8.44E-11 1 1.01E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 21369373 T G EIF4G3 CCDS214.1 r.? - - intronic 39 0 0 41 7 17.1 40 6 15 59 23 39 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.257352941 1.257352941 1 0.859317196 0.859317196 1 1.228346457 1.228346457 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.51E-09 1 5.18E-08 1 1.45E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 22988394 C T C1QB CCDS228.1 r.? - - downstream 33 0 0 19 4 21.1 32 8 25 67 22 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.551470588 1.551470588 1 1.432195327 1.432195327 1 1.033070866 1.033070866 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000228 1 3.69E-12 1 5.21E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 30100874 T C - - - - - - 32 0 0 29 2 6.9 30 4 13.3 61 20 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.507352941 0.507352941 1 0.761927914 0.761927914 1 1.033070866 1.033070866 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.009279585 1 0.0000154 1 4.89E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 30538844 C A - - - - - - 23 0 0 18 0 0 13 3 23.1 48 1 2.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.323348482 1.323348482 1 0.066141732 0.066141732 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.0000344 1 0.213845552 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 32776344 G A HDAC1 CCDS360.1 r.? - - intronic 29 1 3.4 36 4 11.1 27 10 37 63 24 38.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 2.119649083 2.119649083 1 1.2 1.2 1 NA NA 1 NA NA 0 NA NA 1 9 NA 0.135292269 1 0.0000324 1 7.62E-17 1 7.74E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 33938261 T A ZSCAN20 CCDS41300.1 r.16u>a c.? p.? 5'UTR variant 18 0 0 24 0 0 2 2 100 47 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 5.728781306 5.728781306 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.000025 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 44007202 C G PTPRF CCDS489.2 r.? - - intronic 36 0 0 37 3 8.1 38 8 21.1 63 22 34.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.595588235 0.595588235 1 1.208772856 1.208772856 1 1.099212598 1.099212598 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000855237 1 1.67E-11 1 1.03E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 44827762 G T - - - - - - 27 0 0 37 0 0 28 4 14.3 66 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.819215727 0.819215727 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.0000116 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 60081780 C G FGGY CCDS44155.1 r.? - - intronic 27 0 0 35 3 8.6 47 4 8.5 51 21 41.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.632352941 0.632352941 1 0.486946411 0.486946411 1 1.297637795 1.297637795 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000725791 1 0.0000939 1 4.73E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 60350159 G C - - - - - - 38 0 0 35 4 11.4 43 9 20.9 55 14 25.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838235294 0.838235294 1 1.197315293 1.197315293 1 0.803149606 0.803149606 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000289 1 9.45E-13 1 2.19E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 61472077 C A NFIA ENST00000371191 r.? - - intronic 25 0 0 32 0 0 33 4 12.1 59 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.693182538 0.693182538 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.0000228 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 63562280 C T - - - - - - 38 0 0 25 4 16 35 4 11.4 66 21 31.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.176470588 1.176470588 1 0.653081069 0.653081069 1 1.001574803 1.001574803 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000727 1 0.0000289 1 3.42E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 64710012 A G UBE2U CCDS627.1 r.1121a>g c.? p.? 3'UTR variant 39 0 0 29 3 10.3 45 5 11.1 67 20 29.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 0.635894725 0.635894725 1 0.941732283 0.941732283 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000414371 1 0.00000323 1 4.42E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 68512218 G T DIRAS3 CCDS641.1 r.1400c>a c.? p.? 3'UTR variant 33 0 0 41 7 17.1 29 5 17.2 62 15 24.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.257352941 1.257352941 1 0.985350385 0.985350385 1 0.762204724 0.762204724 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.51E-09 1 0.000000336 1 2.28E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 69452854 C T - - - - - - 32 0 0 28 3 10.7 34 7 20.6 61 16 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.786764706 0.786764706 1 1.180128949 1.180128949 1 0.82519685 0.82519685 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000372895 1 3.73E-10 1 2.5E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 70904215 C T CTH CCDS650.1 r.? - - intronic 43 0 0 42 4 9.5 34 4 11.8 58 15 25.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.698529412 0.698529412 1 0.675996194 0.675996194 1 0.815748031 0.815748031 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000601 1 0.0000257 1 7.42E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 71267050 C A - - - - - - 29 0 0 29 2 6.9 32 6 18.8 63 17 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.507352941 0.507352941 1 1.077010886 1.077010886 1 0.850393701 0.850393701 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.009279585 1 1.27E-08 1 6.22E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 75959304 A G SLC44A5 CCDS667.1 r.? - - intronic 32 0 0 33 3 9.1 38 6 15.8 71 22 31 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.669117647 0.669117647 1 0.905147446 0.905147446 1 0.976377953 0.976377953 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000609557 1 3.76E-08 1 2.34E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 84387953 G C TTLL7 CCDS690.2 r.? - - intronic 28 0 0 37 4 10.8 32 8 25 78 24 30.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 1.432195327 1.432195327 1 0.97007874 0.97007874 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000362 1 3.69E-12 1 3.63E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 87282731 C T ENSG00000183291 ENST00000499679 r.? - - intronic 35 0 0 31 3 9.7 31 7 22.6 45 12 26.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.713235294 0.713235294 1 1.294704575 1.294704575 1 0.840944882 0.840944882 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000505952 1 1.85E-10 1 6.03E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 88304218 G A - - - - - - 29 0 0 18 2 11.1 34 6 17.6 34 8 23.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 1.00826551 1.00826551 1 0.74015748 0.74015748 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.003626632 1 1.86E-08 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 89712939 G A - - - - - - 33 0 0 40 4 10 38 6 15.8 59 24 40.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 0.905147446 0.905147446 1 1.281889764 1.281889764 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000495 1 3.76E-08 1 1.09E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 96640723 A T - - - - - - 25 0 0 33 2 6.1 35 4 11.4 64 15 23.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.448529412 0.448529412 1 0.653081069 0.653081069 1 0.737007874 0.737007874 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.011909843 1 0.0000289 1 3.87E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 97373788 C T - - - - - - 34 0 0 24 3 12.5 27 6 22.2 48 22 45.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 1.27178945 1.27178945 1 1.442519685 1.442519685 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000233853 1 4.23E-09 1 5.76E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 98242793 C T DPYD CCDS30777.1 r.? - - intronic 28 0 0 43 3 7 30 6 20 62 16 25.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.514705882 0.514705882 1 1.145756261 1.145756261 1 0.812598425 0.812598425 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.001328364 1 8.37E-09 1 3.36E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 99600768 G T - - - - - - 39 0 0 42 0 0 49 4 8.2 65 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.469760067 0.469760067 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.000110643 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 99990973 A G - - - - - - 37 0 0 28 1 3.6 32 4 12.5 69 21 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.264705882 0.264705882 1 0.716097663 0.716097663 1 0.957480315 0.957480315 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.130947004 1 0.0000201 1 1.02E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 100171631 G C FRRS1 CCDS30780.1 r.? - - downstream 30 0 0 33 2 6.1 27 5 18.5 61 17 27.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.448529412 0.448529412 1 1.059824542 1.059824542 1 0.878740157 0.878740157 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.011909843 1 0.00000023 1 3.33E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 102594555 G T - - - - - - 31 0 0 40 3 7.5 38 5 13.2 61 18 29.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.551470588 0.551470588 1 0.756199132 0.756199132 1 0.929133858 0.929133858 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.001075403 1 0.00000137 1 4.08E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 103529496 G T COL11A1 CCDS779.1 r.? - - intronic 22 0 0 35 3 8.6 37 4 10.8 52 14 26.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.632352941 0.632352941 1 0.618708381 0.618708381 1 0.847244094 0.847244094 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000725791 1 0.0000362 1 9.04E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 103642170 G A - - - - - - 35 0 0 40 7 17.5 43 10 23.3 69 20 29 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.286764706 1.286764706 1 1.334806044 1.334806044 1 0.913385827 0.913385827 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.26E-09 1 1.61E-14 1 8.73E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 104715935 C T - - - - - - 24 0 0 31 2 6.5 31 6 19.4 49 18 36.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.477941176 0.477941176 1 1.111383573 1.111383573 1 1.155905512 1.155905512 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.010558179 1 1.03E-08 1 3.8E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 106285663 A G - - - - - - 34 0 0 41 1 2.4 33 5 15.2 82 22 26.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.176470588 0.176470588 1 0.870774759 0.870774759 1 0.844094488 0.844094488 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.18577148 1 0.00000066 1 9.09E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 106605615 A G - - - - - - 29 0 0 36 1 2.8 33 10 30.3 58 13 22.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.205882353 0.205882353 1 1.735820736 1.735820736 1 0.705511811 0.705511811 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.165106833 1 8.14E-16 1 3.12E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 109348096 G C STXBP3 CCDS790.1 r.? - - intronic 16 0 0 23 4 17.4 19 3 15.8 40 10 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.279411765 1.279411765 1 0.905147446 0.905147446 1 0.787401575 0.787401575 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000513 1 0.000114071 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 110163612 A T AMPD2 CCDS805.1 r.337a>u c.? p.? 5'UTR variant 27 0 0 12 0 0 2 2 100 44 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 5.728781306 5.728781306 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.000025 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 110382640 G A - - - - - - 29 0 0 33 2 6.1 37 6 16.2 60 18 30 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.448529412 0.448529412 1 0.928062572 0.928062572 1 0.94488189 0.94488189 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.011909843 1 3.18E-08 1 2.89E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 120033514 G A AL121995.1 ENST00000506663 r.? - - intronic 32 0 0 36 4 11.1 38 8 21.1 77 28 36.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 1.208772856 1.208772856 1 1.146456693 1.146456693 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000324 1 1.67E-11 1 2.3E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 143757545 G C - - - - - - 19 0 0 35 2 5.7 25 4 16 54 10 18.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.419117647 0.419117647 1 0.916605009 0.916605009 1 0.735170853 0.735170853 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.013332991 1 0.00000727 1 1.91E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 145087676 T C - - - - - - 109 0 0 101 5 5 153 13 8.5 246 34 13.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.367647059 0.367647059 1 0.486946411 0.486946411 1 0.548397717 0.548397717 1 NA NA 1 NA NA 0 NA NA 1 5 NA 1 1 0.000166173 1 1.52E-12 1 1.26E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 165942548 C A - - - - - - 36 0 0 27 4 14.8 33 9 27.3 52 23 44.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.940235294 0.940235294 1 1.337619469 1.337619469 1 0.950125984 0.950125984 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00001 1 6.76E-14 1 3.66E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 147743685 G T - - - - - - 30 0 0 28 1 3.6 44 6 13.6 74 24 32.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.300705882 0.300705882 1 0.890768731 0.890768731 1 1.287542467 1.287542467 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.130947004 1 9.37E-08 1 8.21E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 149180522 C A - - - - - - 18 0 0 10 0 0 5 3 60 22 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 3.929862047 2.381640659 1.650065064 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.00000124 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 38482131 T A LIFR CCDS3927.1 r.3023a>u c.2860A>T p.I954F missense 36 0 0 35 6 17.1 42 9 21.4 73 28 38.4 192 1 0.5 111 17 15.3 197 47 23.9 1.55E-49 203 56 27.6 TRUE TRUE 1.215185583 1.215185583 1 1.262536873 1.262536873 1 1.209448819 1.209448819 1 1.087271311 1.087271311 1 1.410029499 0.705014749 2 0.869291339 0.869291339 1 9 11 1 0.618028022 2.24E-08 2.23E-20 7.51E-13 2.31E-63 3.67E-45 3.56E-79 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 1 158165638 C T - - - - - - 28 0 0 40 3 7.5 31 6 19.4 76 25 32.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.626470588 0.626470588 1 1.270655395 1.270655395 1 1.307411949 1.307411949 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.001075403 1 1.03E-08 1 1.83E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 161591385 T G FCGR3B CCDS41433.1 r.? - - downstream 32 0 0 38 0 0 36 3 8.3 95 0 0 211 0 0 318 3 0.9 246 15 6.1 4.15E-08 341 0 0 TRUE TRUE 0 0 1 0.543630917 0.543630917 1 0 0 1 0.075176471 0.075176471 1 0.399535975 0.614609209 0.650065064 0 0 1 3 3 1 1 1 0.213794612 0.000788827 3.74E-12 1 1 YES 0_0 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 1 162265645 A G NOS1AP CCDS1237.1 r.? - - intronic 36 0 0 41 5 12.2 46 4 8.7 79 21 26.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.019058824 1.019058824 1 0.569829997 0.569829997 1 1.057056469 1.057056469 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000202 1 0.0000862 1 2.69E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 165416912 T C RXRG CCDS1248.1 r.? - - upstream 27 0 0 41 3 7.3 46 6 13 80 20 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.609764706 0.609764706 1 0.85147011 0.85147011 1 0.993474125 0.993474125 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.001155993 1 0.000000123 1 2.53E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 166218760 G T - - - - - - 38 0 0 31 2 6.5 41 6 14.6 92 22 23.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.542941176 0.542941176 1 0.956266432 0.956266432 1 0.949761264 0.949761264 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.010558179 1 6.05E-08 1 1.57E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 166303241 C G - - - - - - 38 0 0 32 3 9.4 40 11 27.5 76 17 22.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.785176471 0.785176471 1 1.801186772 1.091585302 1.650065064 0.890152816 0.890152816 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000556213 1 9.88E-17 1 2.21E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 166676747 T G - - - - - - 16 0 0 20 2 10 31 4 12.9 47 6 12.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.835294118 0.835294118 1 0.84492034 0.84492034 1 0.508658752 0.617086981 0.824290202 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.004473894 1 0.0000177 1 0.000000141 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 168280527 C G TBX19 CCDS1272.1 r.? - - intronic 27 0 0 36 3 8.3 57 4 7 84 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.693294118 0.693294118 1 0.458483906 0.458483906 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.000788827 1 0.000199821 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 169087600 C T ATP1B1 CCDS1276.1 r.? - - intronic 29 0 0 32 3 9.4 48 7 14.6 70 18 25.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.785176471 0.785176471 1 0.956266432 0.956266432 1 1.021291401 1.021291401 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000556213 1 4.81E-09 1 6.91E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 174302951 A G RABGAP1L CCDS1314.1 r.? - - intronic 35 0 0 33 2 6.1 48 10 20.8 90 24 26.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.509529412 0.509529412 1 1.362352176 1.362352176 1 1.061030366 1.061030366 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.011909843 1 5.37E-14 1 1.91E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 175182029 T C - - - - - - 36 0 0 37 0 0 48 5 10.4 73 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.681176088 0.681176088 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.00000447 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 176175323 G C RFWD2 CCDS30944.1 r.? - - intronic 37 0 0 35 2 5.7 33 4 12.1 81 16 19.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.476117647 0.476117647 1 0.79252218 0.79252218 1 0.786831507 0.786831507 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.013332991 1 0.0000228 1 3.77E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 176939152 C T ASTN1 CCDS1319.1 r.? - - intronic 28 0 0 29 3 10.3 32 7 21.9 73 21 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.860352941 0.860352941 1 1.434399647 1.434399647 1 1.144482192 1.144482192 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000414371 1 2.36E-10 1 4.03E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 178611686 G A - - - - - - 25 0 0 37 3 8.1 51 5 9.8 69 19 27.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.676588235 0.676588235 1 0.641877468 0.641877468 1 1.092821538 1.092821538 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000855237 1 0.00000606 1 6.95E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 181625582 T C CACNA1E ENST00000367573 r.? - - intronic 43 0 0 42 3 7.1 42 8 19 78 24 30.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.593058824 0.593058824 1 1.244456315 1.244456315 1 1.223960122 1.223960122 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.001240292 1 3.96E-11 1 3.63E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 181651678 T C CACNA1E ENST00000367573 r.? - - intronic 29 0 0 34 4 11.8 35 5 14.3 95 27 28.4 0 0 NA 0 0 NA 0 0 NA 1 2 2 100 TRUE FALSE 0.985647059 0.985647059 1 0.936617121 0.936617121 1 1.128586606 1.128586606 1 NA NA 1 NA NA 0 3.973896502 3.973896502 1 9 NA 1 1 0.0000257 1 0.000000895 1 2.05E-39 0.000025 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 183209572 G A LAMC2 CCDS1352.1 r.? - - intronic 25 0 0 36 3 8.3 45 12 26.7 72 18 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.693294118 0.693294118 1 1.748788611 1.059830093 1.650065064 0.993474125 0.993474125 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000788827 1 6.03E-18 1 1.22E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 187664150 G C - - - - - - 37 0 0 41 1 2.4 20 4 20 85 23 27.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.200470588 0.200470588 1 1.309954016 1.309954016 1 1.076925952 1.076925952 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.18577148 1 0.00000284 1 3.06E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 190932371 G A - - - - - - 35 0 0 44 4 9.1 33 9 27.3 94 9 9.6 0 0 NA 0 0 NA 1 1 100 0.01 0 0 NA TRUE FALSE 0.819081335 0.819081335 1 2.156619469 1.078309735 2 0.458494125 0.73198121 0.626374173 NA NA 0 7.899705015 7.899705015 1 NA NA 1 9 NA 1 1 0.0000723 1 6.76E-14 0.005 1.42E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 191651218 G A - - - - - - 31 0 0 32 0 0 43 5 11.6 92 17 18.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.916365782 0.916365782 1 0.883556387 0.883556387 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 1 1 0.00000257 1 7.54E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 192007060 C A - - - - - - 39 0 0 43 2 4.7 37 5 13.5 103 13 12.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.423042008 0.423042008 1 1.066460177 1.066460177 1 0.601773539 0.960725339 0.626374173 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.019709573 1 0.00000119 1 8.6E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 192669257 G A - - - - - - 22 0 0 26 2 7.7 35 5 14.3 98 12 12.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.693068822 0.693068822 1 1.129657817 1.129657817 1 0.582669618 0.930226122 0.626374173 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.007502227 1 0.000000895 1 1.33E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 193091220 C G CDC73 CCDS1382.1 r.74c>g c.? p.? 5'UTR variant 22 0 0 12 0 0 3 3 100 57 14 24.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 7.899705015 2.633235005 3 1.174891196 1.174891196 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 1 1 0.000000125 1 3.84E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 193300579 C T - - - - - - 36 0 0 34 3 8.8 30 8 26.7 86 17 19.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.792078653 0.792078653 1 2.109221239 1.054610619 2 0.945644133 0.945644133 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000666058 1 2.07E-12 1 2.19E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 195176800 A G - - - - - - 41 0 0 37 2 5.4 45 4 8.9 96 23 24 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.486048265 0.486048265 1 0.703073746 0.703073746 1 1.146235313 1.146235313 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.014826063 1 0.0000791 1 7.21E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 195177314 C G - - - - - - 36 0 0 45 3 6.7 31 5 16.1 104 18 17.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.603059884 0.603059884 1 1.271852507 1.271852507 1 0.826244622 0.826244622 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.001516071 1 0.000000476 1 1.68E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 195362151 G A - - - - - - 29 0 0 47 4 8.5 41 5 12.2 105 17 16.2 0 0 NA 1 1 100 0 0 NA 1 0 0 NA TRUE FALSE 0.765075972 0.765075972 1 0.963764012 0.963764012 1 0.927004107 0.927004107 1 9.00089379 9.00089379 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000939 0.005 0.00000202 1 8.25E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 195423686 T G - - - - - - 32 0 0 36 3 8.3 61 6 9.8 124 22 17.7 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 TRUE FALSE 0.747074185 0.747074185 1 0.774171091 0.774171091 1 1.012837821 1.012837821 1 NA NA 0 NA NA 0 0 0 1 9 NA 1 1 0.000788827 1 0.000000685 1 2.04E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 197041554 G C - - - - - - 31 0 0 35 3 8.6 48 7 14.6 93 18 19.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.718352941 0.718352941 1 1.041990109 1.041990109 1 0.906553373 0.906553373 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000725791 1 4.81E-09 1 1.95E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 204784207 A G - - - - - - 25 0 0 37 1 2.7 39 4 10.3 98 0 0 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 FALSE FALSE 0.225529412 NA 0 0.735102611 0.735102611 1 0 0 1 NA NA 1 NA NA 0 0 0 1 NA NA 1 1 0.169281299 1 0.0000447 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 206924709 T A - - - - - - 27 0 0 49 0 0 57 4 7 85 3 3.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.499584299 0.499584299 1 0.163553443 0.163553443 1 NA NA 1 NA NA 0 NA NA 1 4 NA 1 1 1 1 0.000199821 1 0.009101881 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 207151522 A G - - - - - - 41 0 0 41 2 4.9 43 5 11.6 105 27 25.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.409294118 0.409294118 1 0.827882553 0.827882553 1 1.200949571 1.200949571 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.018015855 1 0.00000257 1 4.48E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 207246977 C T PFKFB2 CCDS31004.1 r.2903c>u c.? p.? 3'UTR variant 37 0 0 51 3 5.9 54 10 18.5 105 13 12.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.492823529 0.492823529 1 1.320329933 1.320329933 1 0.579446486 1.107188953 0.523349229 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.002175924 1 1.91E-13 1 1.11E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 213607606 C T - - - - - - 28 0 0 40 3 7.5 58 10 17.2 82 17 20.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.626470588 0.626470588 1 1.227549992 1.227549992 1 0.967301794 0.967301794 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.001075403 1 4.1E-13 1 9.09E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 214739257 C G - - - - - - 27 0 0 41 0 0 52 4 7.7 100 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.549542729 0.549542729 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.000139698 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 216235585 G T USH2A CCDS31025.1 r.? - - intronic 31 0 0 46 0 0 53 4 7.5 97 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.535268892 0.535268892 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.000150502 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 216620460 G A - - - - - - 29 0 0 51 0 0 40 5 12.5 111 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.89211482 0.89211482 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.00000178 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 217059041 G A ESRRG CCDS1517.1 r.? - - intronic 27 0 0 36 2 5.6 50 11 22 102 11 10.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.467764706 0.467764706 1 1.570122083 1.570122083 1 0.504679197 0.964325863 0.523349229 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.014070883 1 1.52E-15 1 5.73E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 218810720 C T - - - - - - 28 0 0 63 4 6.3 61 6 9.8 113 16 14.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.526235294 0.526235294 1 0.699418019 0.699418019 1 0.663559685 1.267909931 0.523349229 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000294233 1 0.000000685 1 1.07E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 219732202 A T - - - - - - 30 0 0 35 2 5.7 35 5 14.3 87 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.476117647 0.476117647 1 1.020579354 1.020579354 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 7 NA 1 1 0.013332991 1 0.000000895 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 221276527 G T - - - - - - 25 0 0 32 3 9.4 38 5 13.2 85 19 22.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.785176471 0.785176471 1 0.94207325 0.94207325 1 1.046742038 1.046742038 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000556213 1 0.00000137 1 5.93E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 223431156 G T SUSD4 CCDS41471.1 r.? - - intronic 32 0 0 38 3 7.9 39 5 12.8 97 19 19.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.659882353 0.659882353 1 0.913525575 0.913525575 1 0.915899284 0.915899284 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000925091 1 0.00000156 1 9.19E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 228840415 C T - - - - - - 18 0 0 32 0 0 31 6 19.4 95 13 13.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.3845622 1.3845622 1 0.640194907 1.223265215 0.523349229 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1 1 1.03E-08 1 2.91E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 228858904 C G - - - - - - 35 0 0 34 3 8.8 22 4 18.2 72 16 22.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735058824 0.735058824 1 1.298919178 1.298919178 1 1.037396127 1.037396127 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000666058 1 0.00000425 1 4.82E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 229443094 T A RAB4A CCDS31050.1 r.? - - downstream 27 0 0 23 1 4.3 39 12 30.8 95 34 35.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.359176471 0.359176471 1 2.198170916 1.099085458 2 1.672918079 1.098184216 1.523349229 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.108890944 1 8.43E-19 1 2.98E-53 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 230065224 T C - - - - - - 24 0 0 45 2 4.4 43 8 18.6 106 23 21.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.367529412 0.367529412 1 1.327466852 1.327466852 1 1.01403135 1.01403135 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.021467209 1 4.85E-11 1 8.99E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 231416852 C G GNPAT CCDS1592.1 r.? - - downstream 41 0 0 38 3 7.9 26 5 19.2 96 15 15.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.659882353 0.659882353 1 1.370288363 1.370288363 1 0.728981062 0.728981062 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000925091 1 0.000000188 1 2.73E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 238325817 C A - - - - - - 30 0 0 38 3 7.9 47 9 19.1 109 25 22.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.659882353 0.659882353 1 1.363151445 1.363151445 1 1.070106816 1.070106816 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000925091 1 2.24E-12 1 5.58E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 238863158 C A - - - - - - 32 0 0 37 2 5.4 40 4 10 94 15 16 0 0 NA 1 0 0 0 0 NA 1 0 0 NA TRUE FALSE 0.451058824 0.451058824 1 0.713691856 0.713691856 1 0.747672885 0.747672885 1 0 0 1 NA NA 1 NA NA 1 9 NA 1 1 0.014826063 1 0.0000495 1 1.96E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 239310397 A G - - - - - - 33 0 0 38 2 5.3 46 4 8.7 91 10 11 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 TRUE FALSE 0.442705882 0.442705882 1 0.620911915 0.620911915 1 0.514025108 0.982183749 0.523349229 NA NA 1 NA NA 1 0 0 1 9 NA 1 1 0.015598339 1 0.0000862 1 4.34E-11 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 239987741 A T CHRM3 CCDS1616.1 r.? - - intronic 23 0 0 46 0 0 44 4 9.1 85 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.649459589 0.649459589 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000723 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 242325987 C A PLD5 CCDS1621.1 r.? - - intronic 30 0 0 46 3 6.5 42 4 9.5 109 27 24.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.542941176 0.542941176 1 0.678007263 0.678007263 1 1.158892971 1.158892971 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001615827 1 0.0000601 1 1.4E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 242927987 G C - - - - - - 48 0 0 42 1 2.4 40 4 10 100 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.200470588 0.200470588 1 0.713691856 0.713691856 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.189842622 1 0.0000495 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 243394695 G A CEP170 CCDS44339.1 r.? - - intronic 29 0 0 49 3 6.1 48 6 12.5 95 13 13.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.509529412 0.509529412 1 0.89211482 0.89211482 1 0.640194907 1.223265215 0.523349229 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.001939399 1 0.00000016 1 2.91E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 245835801 C A KIF26B CCDS44342.1 r.? - - intronic 26 0 0 34 4 11.8 30 4 13.3 121 30 24.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.985647059 0.985647059 1 0.949210168 0.949210168 1 1.158892971 1.158892971 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 0.0000154 1 1.35E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 246407921 G A SMYD3 CCDS31083.1 r.? - - intronic 28 0 0 44 2 4.5 54 7 13 102 24 23.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.375882353 0.375882353 1 0.927799413 0.927799413 1 1.098144549 1.098144549 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.020580492 1 1.13E-08 1 5.6E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 246567650 G A SMYD3 CCDS31083.1 r.? - - intronic 29 0 0 45 3 6.7 34 6 17.6 108 18 16.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.559647059 0.559647059 1 1.256097666 1.256097666 1 0.780383573 0.780383573 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.001516071 1 1.86E-08 1 3.47E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 247411410 C T - - - - - - 20 0 0 42 6 14.3 36 4 11.1 108 17 15.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.194470588 1.194470588 1 0.79219796 0.79219796 1 0.733654018 0.733654018 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 7.02E-08 1 0.0000324 1 1.37E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 248505721 T G - - - - - - 46 0 0 35 4 11.4 38 7 18.4 112 22 19.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.952235294 0.952235294 1 1.313193015 1.313193015 1 0.915899284 0.915899284 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000289 1 8.61E-10 1 1.83E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 21492296 T A - - - - - - 34 0 0 31 2 6.5 30 5 16.7 49 18 36.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.477941176 0.477941176 1 0.985250737 0.985250737 1 1.155905512 1.155905512 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.010558179 1 0.000000401 1 3.8E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 1802851 C T - - - - - - 30 0 0 59 2 3.4 65 9 13.8 145 4 2.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.42 0.42 1 1.315638842 1.315638842 1 0.175467109 1.498743072 0.117076177 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.035441897 1 4.85E-11 1 0.006318116 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 2327655 A G - - - - - - 43 0 0 48 2 4.2 56 6 10.7 134 4 3 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 0.518823529 0.518823529 1 1.020096783 1.020096783 1 0.188000474 1.605796148 0.117076177 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 0.024220359 1 0.000000409 1 0.004794273 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 4576525 G T - - - - - - 31 0 0 62 0 0 88 5 5.7 132 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.543416043 0.543416043 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000867 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 7510759 G A - - - - - - 34 0 0 58 0 0 47 6 12.8 147 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.220302694 1.220302694 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000000141 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 8453678 G C - - - - - - 34 0 0 57 3 5.3 71 5 7 143 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.654705882 0.654705882 1 0.667353036 0.667353036 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.002989991 1 0.0000309 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 8758655 T A - - - - - - 26 0 0 44 0 0 78 4 5.1 147 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.486214355 0.486214355 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000663934 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 10280107 G C - - - - - - 28 0 0 43 0 0 67 4 6 105 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0.533982301 0.533982301 1 0 NA 0 NA NA 1 NA NA 1 NA NA 0 NA NA 1 1 1 1 0.000372648 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 10304829 C T - - - - - - 33 0 0 50 4 8 63 6 9.5 107 22 20.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.828235294 0.828235294 1 0.845471976 0.845471976 1 1.10444033 1.10444033 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000119787 1 0.000000832 1 6.15E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 12382332 A C - - - - - - 37 0 0 39 2 5.1 57 7 12.3 138 53 38.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.528 0.528 1 1.094663717 1.094663717 1 2.058762557 1.029381279 2 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.016387522 1 1.66E-08 1 4.2E-84 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 12761535 A G CAMK1D CCDS7091.1 r.? - - intronic 31 0 0 40 1 2.5 47 5 10.6 98 3 3.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.258823529 0.258823529 1 0.943368732 0.943368732 1 0.166202186 0.784881382 0.211754527 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.181679879 1 0.00000402 1 0.013362835 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 14380245 G A - - - - - - 27 0 0 64 2 3.1 78 13 16.7 113 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.320941176 0.320941176 1 1.486250737 1.486250737 1 0 NA 0 NA NA 1 NA NA 1 NA NA 0 NA NA 1 1 0.041085601 1 1.99E-16 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 29873396 A C - - - - - - 47 0 0 27 2 7.4 34 5 14.7 72 1 1.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.544117647 0.544117647 1 0.867256637 0.867256637 1 0.044094488 0.044094488 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.00807567 1 0.000000771 1 0.302953399 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 15052185 G A - - - - - - 25 0 0 32 2 6.2 58 7 12.1 108 3 2.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.641882353 0.641882353 1 1.076864307 1.076864307 1 0.150118103 0.708925119 0.211754527 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.011224977 1 1.88E-08 1 0.01729224 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 15407106 C A FAM171A1 CCDS31154.1 r.? - - intronic 24 0 0 48 4 8.3 57 10 17.5 126 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.859294118 0.859294118 1 1.557448378 1.557448378 1 0 NA 0 NA NA 1 NA NA 1 NA NA 0 NA NA 1 1 0.000102016 1 3.4E-13 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 18854663 A G NSUN6 CCDS7130.1 r.? - - intronic 32 0 0 52 2 3.8 56 5 8.9 123 7 5.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.393411765 0.393411765 1 0.792073746 0.792073746 1 0.305597567 1.443168992 0.211754527 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.028101652 1 0.00000965 1 0.00000334 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 18856195 T C NSUN6 CCDS7130.1 r.? - - intronic 29 0 0 48 5 10.4 79 8 10.1 112 5 4.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.076705882 1.076705882 1 0.898870206 0.898870206 1 0.241261237 1.139343941 0.211754527 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00000447 1 7.43E-09 1 0.000268964 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 19239791 C T - - - - - - 32 0 0 48 3 6.2 22 4 18.2 104 2 1.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.641882353 0.641882353 1 1.619746313 1.619746313 1 0.101865856 NA 0 NA NA 1 NA NA 1 NA NA 0 NA NA 1 1 0.001827434 1 0.00000425 1 0.095955206 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 19493715 G A C10orf112 ENST00000377266 r.? - - intronic 28 0 0 42 4 9.5 45 6 13.3 104 26 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.983529412 0.983529412 1 1.183660767 1.183660767 1 1.340340207 1.340340207 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000601 1 0.000000108 1 2.31E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 19850409 A G C10orf112 ENST00000377266 r.? - - intronic 39 0 0 45 2 4.4 44 5 11.4 99 7 7.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.455529412 0.455529412 1 1.014566372 1.014566372 1 0.380656619 0.380656619 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.021467209 1 0.00000288 1 0.000000778 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 29041828 T C - - - - - - 41 0 0 54 3 5.6 71 6 8.5 93 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.523764706 0.523764706 1 0.704407065 0.704407065 1 0 NA 0 NA NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00256299 1 0.00000169 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 29463345 C T - - - - - - 35 0 0 41 0 0 65 8 12.3 85 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 1.019318458 1.019318458 1 0 NA 0 NA NA 0 NA NA 1 NA NA 0 NA NA 1 1 1 1 1.53E-09 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 30982660 C G - - - - - - 20 0 0 31 3 9.7 24 4 16.7 80 3 3.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.907235294 0.907235294 1 1.383952704 1.383952704 1 0.16371711 1.031362235 0.15873871 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 0.000505952 1 0.00000613 1 0.007711832 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 31051613 C G - - - - - - 22 0 0 34 3 8.8 40 4 10 81 4 4.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.823058824 0.823058824 1 0.828714194 0.828714194 1 0.211108905 1.329914461 0.15873871 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 0.000666058 1 0.0000495 1 0.000765256 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 31410401 T A - - - - - - 38 0 0 43 0 0 57 5 8.8 103 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0.729268491 0.729268491 1 0 NA 0 NA NA 0 NA NA 1 NA NA 0 NA NA 1 1 1 1 0.0000105 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 33558619 C T NRP1 CCDS7177.1 r.? - - intronic 31 0 0 38 2 5.3 29 4 13.8 53 5 9.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.389705882 0.389705882 1 0.814159292 0.814159292 1 0.220185251 1.142098983 0.19278999 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.015598339 1 0.0000134 1 0.00000734 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 30085213 C A TRIM31 CCDS34374.1 r.? - - upstream 27 0 0 30 11 36.7 14 8 57.1 55 37 67.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.698529412 1.349264706 2 3.368731563 1.684365782 2 2.119685039 1.05984252 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.44E-18 1 1.14E-15 1 9.6E-72 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 38163489 C G - - - - - - 36 0 0 29 1 3.4 16 4 25 44 23 52.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.25 0.25 1 1.474926254 1.474926254 1 1.225073259 1.225073259 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.135292269 1 0.00000108 1 2.17E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 44640653 A C - - - - - - 15 0 0 22 0 0 36 4 11.1 24 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.543867257 0.543867257 1 0 0 1 NA NA 0 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.0000324 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 47420681 A T - - - - - - 5 0 0 6 1 16.7 11 3 27.3 14 5 35.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 1.337619469 1.337619469 1 0.945117126 0.945117126 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.029627491 1 0.00002 1 6.03E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 47691211 G C - - - - - - 44 0 0 36 3 8.3 51 7 13.7 71 7 9.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.527294118 0.527294118 1 0.671259587 0.671259587 1 0.262091304 0.526519715 0.497780608 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.000788827 1 7.46E-09 1 7.85E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 51488358 C T AGAP7 CCDS41524.1 r.? - - upstream 74 0 0 82 3 3.7 81 12 14.8 114 9 7.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.235058824 0.235058824 1 0.725156342 0.725156342 1 0.169818898 0.169818898 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.008251578 1 1.26E-14 1 7.89E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 55746257 G T PCDH15 CCDS44404.1 r.? - - intronic 24 0 0 29 0 0 27 6 22.2 49 1 2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.087734513 1.087734513 1 0.042992126 0.042992126 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 4.23E-09 1 0.217776325 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 56522937 G A PCDH15 CCDS44404.1 r.? - - intronic 38 0 0 30 4 13.3 22 5 22.7 39 15 38.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.844941176 0.844941176 1 1.112233038 1.112233038 1 0.827598425 0.827598425 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000154 1 7.67E-08 1 6.85E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 56972493 G T PCDH15 ENST00000373957 r.? - - intronic 30 0 0 26 3 11.5 29 7 24.1 40 20 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.730588235 0.730588235 1 1.180828909 1.180828909 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000298167 1 1.11E-10 1 1.19E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 60964019 A T PHYHIPL CCDS7254.1 r.? - - intronic 33 0 0 27 0 0 31 3 9.7 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.475271386 0.475271386 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000505952 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 62237615 T A ANK3 ENST00000373827 r.? - - intronic 28 0 0 29 0 0 29 4 13.8 46 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.676159292 0.676159292 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000134 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 62237754 A C ANK3 ENST00000373827 r.? - - intronic 27 0 0 33 2 6.1 27 3 11.1 50 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.387529412 0.387529412 1 0.543867257 0.543867257 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.011909843 1 0.000334187 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 66647263 T G - - - - - - 39 0 0 30 1 3.3 33 3 9.1 46 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.209647059 0.209647059 1 0.445873156 0.445873156 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.139615808 1 0.000609557 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 68195014 G T CTNNA3 CCDS7269.1 r.? - - intronic 32 0 0 21 2 9.5 30 10 33.3 44 22 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.603529412 0.603529412 1 1.63160177 1.63160177 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.004928472 1 2.68E-16 1 4.51E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 13939141 T G - - - - - - 34 0 0 39 0 0 47 4 8.5 67 0 0 37 0 0 294 12 4.1 372 18 4.8 6.70E-08 339 0 0 TRUE TRUE 0 0 1 0.501474926 0.501474926 1 0 0 1 0.301470588 0.301470588 1 0.283185841 0.283185841 1 0 0 1 3 6 1 1 1 4.62E-08 0.0000939 1.37E-12 1 1 YES 0_1 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 10 71195208 G T - - - - - - 31 0 0 22 0 0 19 3 15.8 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.774153392 0.774153392 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000114071 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 71580774 G T COL13A1 CCDS44420.1 r.? - - intronic 33 0 0 30 1 3.3 30 4 13.3 44 18 40.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.209647059 0.209647059 1 0.651660767 0.651660767 1 0.879188976 0.879188976 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.139615808 1 0.0000154 1 3.47E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 75328355 A G USP54 CCDS7329.2 r.? - - intronic 25 0 0 34 3 8.8 31 4 12.9 42 16 38.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.559058824 0.559058824 1 0.632061947 0.632061947 1 0.819 0.819 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000666058 1 0.0000177 1 2.25E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 77426202 C G C10orf11 ENST00000354343 r.? - - intronic 35 0 0 24 2 8.3 29 4 13.8 42 24 57.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.527294118 0.527294118 1 0.676159292 0.676159292 1 1.227425197 1.227425197 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006413403 1 0.0000134 1 1.93E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 78262482 A G C10orf11 CCDS7351.1 r.? - - intronic 31 0 0 28 3 10.7 35 12 34.3 45 28 62.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.679764706 0.679764706 1 1.68059882 1.68059882 1 1.337055118 1.337055118 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000372895 1 1.83E-19 1 3.78E-53 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 86910380 G T - - - - - - 25 0 0 21 2 9.5 30 5 16.7 55 23 41.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.603529412 0.603529412 1 0.818250737 0.818250737 1 0.898535433 0.898535433 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.004928472 1 0.000000401 1 1.91E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 87023126 T C - - - - - - 28 0 0 20 3 15 31 5 16.1 38 17 44.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.952941176 0.952941176 1 0.788852507 0.788852507 1 0.960874016 0.960874016 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0001337 1 0.000000476 1 1.99E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 87894395 C G GRID1 CCDS31236.1 r.? - - intronic 40 0 0 18 2 11.1 26 7 26.9 51 22 43.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.705176471 0.705176471 1 1.318020649 1.318020649 1 0.926480315 0.926480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.003626632 1 4.73E-11 1 3.24E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 100640321 C A HPSE2 CCDS7477.1 r.? - - intronic 33 0 0 24 1 4.2 24 9 37.5 52 25 48.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.266823529 0.266823529 1 1.837389381 1.837389381 1 1.03396063 1.03396063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.113346489 1 2.39E-15 1 1.25E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 16422761 G C - - - - - - 38 0 0 39 1 2.6 42 7 16.7 71 0 0 172 0 0 104 0 0 103 8 7.8 1.02E-05 91 0 0 TRUE TRUE 0.191176471 0.191176471 1 0.985250737 0.985250737 1 0 0 1 0 0 1 0.460176991 0.460176991 1 0 0 1 3 3 1 1 0.177567718 1 1.81E-09 6.09E-08 1 1 YES 0_0 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 10 105453360 G T SH3PXD2A CCDS31278.1 r.? - - intronic 22 0 0 22 2 9.1 8 4 50 36 16 44.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.578117647 0.578117647 1 2.449852507 2.449852507 1 0.954425197 0.954425197 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.005403392 1 4.31E-08 1 1.01E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 16429044 G C - - - - - - 37 0 0 33 1 3 26 4 15.4 71 0 0 212 0 0 77 3 3.9 60 5 8.3 0.000345754 119 0 0 TRUE TRUE 0.220588235 0.220588235 1 0.908554572 0.908554572 1 0 0 1 0.286764706 0.286764706 1 0.489675516 0.489675516 1 0 0 1 3 7 1 1 0.15245715 0.006942426 0.00000856 0.0000136 1 1 YES 0_1 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 10 108370563 G A SORCS1 CCDS7559.1 r.? - - intronic 38 0 0 25 1 4 20 4 20 47 19 40.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.254117647 0.254117647 1 0.979941003 0.979941003 1 0.868440945 0.868440945 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.117779757 1 0.00000284 1 1.16E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 110334261 G C - - - - - - 35 0 0 17 3 17.6 28 4 14.3 50 20 40 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.118117647 1.118117647 1 0.700657817 0.700657817 1 0.85984252 0.85984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000807 1 0.0000116 1 3.9E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 112971144 G T - - - - - - 31 0 0 28 0 0 24 4 16.7 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.818250737 0.818250737 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000613 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 113981627 C T - - - - - - 34 0 0 33 3 9.1 28 5 17.9 47 20 42.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.578117647 0.578117647 1 0.877047198 0.877047198 1 0.915732283 0.915732283 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000609557 1 0.000000279 1 8.18E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 114131249 G T ACSL5 CCDS7573.1 r.? - - upstream 34 0 0 35 0 0 16 4 25 65 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.224926254 1.224926254 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000108 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 115585497 G T - - - - - - 44 0 0 32 0 0 15 3 20 62 0 0 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.979941003 0.979941003 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000544 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 46595415 G A CYP39A1 CCDS4916.1 r.? - - intronic 33 0 0 28 5 17.9 22 3 13.6 56 27 48.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.495176471 1.495176471 1 0.666359882 0.666359882 1 1.09230731 1.09230731 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000279 1 0.000179267 1 4.78E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 125029763 G T - - - - - - 29 0 0 40 4 10 27 5 18.5 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.635294118 0.635294118 1 0.997703597 0.997703597 1 0.335338583 0.335338583 1 NA NA 1 NA NA 0 NA NA 1 7 NA 1 1 0.0000495 1 0.00000023 1 0.000000562 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 395662 T A PKP3 CCDS7695.1 r.? - - intronic 24 0 0 25 0 0 2 2 100 26 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 5.128580772 4.173392422 1.228875757 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.000025 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 5333108 G T HBG2 CCDS7755.1 r.? - - intronic 39 0 0 27 3 11.1 31 5 16.1 52 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.705176471 0.705176471 1 0.825701504 0.825701504 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 7 NA 1 1 0.000334187 1 0.000000476 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 5386826 G A HBG2 CCDS7755.1 r.? - - intronic 35 0 0 26 3 11.5 34 12 35.3 41 12 29.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.730588235 0.730588235 1 1.810389012 1.473207525 1.228875757 0.629834646 0.629834646 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000298167 1 1.21E-19 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 10628403 G T MRVI1 CCDS44539.1 r.? - - intronic 30 0 0 38 0 0 39 4 10.3 62 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.607669617 0.607669617 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000447 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 11107544 G T - - - - - - 38 0 0 20 1 5 36 6 16.7 71 25 35.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.367647059 0.367647059 1 0.985250737 0.985250737 1 1.108661417 1.108661417 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.09538952 1 2.68E-08 1 2.38E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 18254902 T C SAA4 CCDS7832.1 r.? - - intronic 26 0 0 41 0 0 57 5 8.8 97 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.607174041 0.607174041 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000105 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 19082713 G A MRGPRX2 CCDS7847.1 r.? - - upstream 30 0 0 39 3 7.7 57 8 14 74 22 29.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.643176471 0.643176471 1 0.965958702 0.965958702 1 1.232433071 1.232433071 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000998458 1 5.19E-10 1 6.78E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 70142271 G T - - - - - - 22 0 0 21 2 9.5 5 0 0 38 12 31.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.698529412 0.698529412 1 0 0 1 0.995275591 0.995275591 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.004928472 1 1 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 20764769 G A NELL1 CCDS7855.1 r.? - - intronic 28 0 0 38 3 7.9 23 4 17.4 86 23 26.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.659882353 0.659882353 1 1.200548673 1.200548673 1 1.107944882 1.107944882 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000925091 1 0.00000513 1 4.16E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 20776170 G A NELL1 CCDS7855.1 r.? - - intronic 31 0 0 43 5 11.6 53 9 17 79 20 25.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.968941176 0.968941176 1 1.172949853 1.172949853 1 1.049850394 1.049850394 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000257 1 7.1E-12 1 1.91E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 20920671 C T NELL1 CCDS7855.1 r.? - - intronic 26 0 0 35 3 8.6 43 6 14 80 24 30 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.718352941 0.718352941 1 0.965958702 0.965958702 1 1.24488189 1.24488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000725791 1 8.13E-08 1 7.39E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 21812880 G C - - - - - - 29 0 0 28 1 3.6 35 5 14.3 87 11 12.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.300705882 0.300705882 1 0.986657817 0.986657817 1 0.522850394 0.522850394 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.130947004 1 0.000000895 1 9.65E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 22219174 T A ANO5 CCDS31444.1 r.? - - intronic 33 0 0 37 2 5.4 56 9 16.1 87 23 26.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.451058824 0.451058824 1 1.110852507 1.110852507 1 1.095496063 1.095496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.014826063 1 1.2E-11 1 5.63E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 22445383 C T - - - - - - 30 0 0 32 1 3.1 46 5 10.9 93 20 21.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.258941176 0.258941176 1 0.752067847 0.752067847 1 0.892165354 0.892165354 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.14819814 1 0.00000361 1 7.16E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 23139452 C T - - - - - - 45 0 0 23 3 13 44 8 18.2 95 31 32.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.085882353 1.085882353 1 1.255746313 1.255746313 1 1.352771654 0.676385827 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000205387 1 5.9E-11 1 3.38E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 23214817 T C - - - - - - 38 0 0 32 3 9.4 38 7 18.4 72 25 34.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.785176471 0.785176471 1 1.269545723 1.269545723 1 1.439913386 0.719956693 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000556213 1 8.61E-10 1 3.63E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 23527824 A T - - - - - - 31 0 0 45 1 2.2 47 5 10.6 73 18 24.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.183764706 0.183764706 1 0.731368732 0.731368732 1 1.024952756 1.024952756 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.201934322 1 0.00000402 1 1.62E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 70642541 A G COL19A1 CCDS4970.1 r.? - - intronic 30 0 0 26 8 30.8 31 4 12.9 61 18 29.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.264705882 2.264705882 1 0.761061947 0.761061947 1 0.929133858 0.929133858 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.63E-13 1 0.0000177 1 4.08E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 24973836 A C LUZP2 CCDS31446.1 r.? - - intronic 37 0 0 33 2 6.1 41 4 9.8 69 20 29 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.509529412 0.509529412 1 0.676171091 0.676171091 1 1.203385827 1.203385827 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011909843 1 0.0000546 1 8.73E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 25067801 G T LUZP2 CCDS31446.1 r.? - - intronic 30 0 0 32 2 6.2 44 6 13.6 74 15 20.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.517882353 0.517882353 1 0.938359882 0.938359882 1 0.842370079 0.842370079 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011224977 1 9.37E-08 1 4.22E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 43528502 G C THADA CCDS46268.1 r.? - - intronic 40 0 0 45 1 2.2 37 7 18.9 83 0 0 175 1 0.6 95 0 0 160 11 6.9 7.92E-07 117 0 0 TRUE TRUE 0.161764706 0.161764706 1 1.115044248 1.115044248 1 0 0 1 0 0 1 0.407079646 0.407079646 1 0 0 1 3 3 1 0.584051914 0.201934322 1 7.05E-10 7.65E-10 1 1 YES 0_0 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 11 27258294 C T - - - - - - 25 0 0 31 0 0 34 7 20.6 90 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.421339233 1.421339233 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 3.73E-10 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 28630587 G A - - - - - - 34 0 0 34 4 11.8 49 6 12.2 61 16 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.985647059 0.985647059 1 0.841764012 0.841764012 1 1.08719685 1.08719685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 0.000000182 1 2.5E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 29280906 G A - - - - - - 36 0 0 27 3 11.1 45 5 11.1 76 21 27.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.927176471 0.927176471 1 0.765867257 0.765867257 1 1.145291339 1.145291339 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000334187 1 0.00000323 1 1.07E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 30465902 C A MPPED2 CCDS44560.1 r.? - - intronic 39 0 0 37 1 2.7 37 4 10.8 88 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.225529412 0.225529412 1 0.745168142 0.745168142 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.169281299 1 0.0000362 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 32522182 G A - - - - - - 34 0 0 35 3 8.6 47 6 12.8 78 20 25.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.718352941 0.718352941 1 0.883162242 0.883162242 1 1.062299213 1.062299213 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000725791 1 0.000000141 1 1.43E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 35762231 T G TRIM44 CCDS31461.1 r.? - - intronic 40 0 0 35 0 0 56 5 8.9 95 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.614073746 0.614073746 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000965 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 36941256 G A - - - - - - 26 0 0 28 0 0 41 5 12.2 99 24 24.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.841764012 0.841764012 1 1.004204724 1.004204724 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 0.00000202 1 2.52E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 37264888 G T - - - - - - 12 0 0 12 2 16.7 16 3 18.8 32 9 28.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.394941176 1.394941176 1 1.297144543 1.297144543 1 1.16603937 1.16603937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001595918 1 0.0000667 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 38409704 G A - - - - - - 31 0 0 26 1 3.8 56 6 10.7 90 19 21.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.317411765 0.317411765 1 0.738268437 0.738268437 1 0.875566929 0.875566929 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.122190858 1 0.000000409 1 1.95E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 39245273 C T - - - - - - 29 0 0 36 3 8.3 25 7 28 64 11 17.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.693294118 0.693294118 1 1.931917404 1.931917404 1 0.713732283 0.713732283 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000788827 1 3.47E-11 1 2.85E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 40337318 C T - - - - - - 33 0 0 32 3 9.4 41 9 22 86 16 18.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.785176471 0.785176471 1 1.517935103 1.517935103 1 0.771826772 0.771826772 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000556213 1 5.92E-13 1 1.06E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 40585615 A T - - - - - - 28 0 0 44 7 15.9 36 6 16.7 78 17 21.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.328117647 1.328117647 1 1.152250737 1.152250737 1 0.904614173 0.904614173 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.55E-09 1 2.68E-08 1 3.59E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 41076842 T C - - - - - - 31 0 0 32 4 12.5 46 7 15.2 71 13 18.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.044117647 1.044117647 1 1.048755162 1.048755162 1 0.759377953 0.759377953 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 3.53E-09 1 5.42E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 41076847 A T - - - - - - 34 0 0 28 4 14.3 45 7 15.6 76 14 18.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.194470588 1.194470588 1 1.076353982 1.076353982 1 0.763527559 0.763527559 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000116 1 0.000000003 1 3.14E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 41087341 C T - - - - - - 28 0 0 39 4 10.3 35 5 14.3 74 15 20.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.860352941 0.860352941 1 0.986657817 0.986657817 1 0.842370079 0.842370079 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000447 1 0.000000895 1 4.22E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 41463650 T C - - - - - - 30 0 0 41 0 0 38 4 10.5 83 22 26.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.724469027 0.724469027 1 1.099645669 1.099645669 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 0.0000403 1 1.23E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 41521875 T C - - - - - - 32 0 0 31 3 9.7 35 6 17.1 71 13 18.3 1 0 0 10 0 0 8 1 12.5 0.077255306 4 0 0 TRUE TRUE 0.810235294 0.810235294 1 1.179849558 1.179849558 1 0.759377953 0.759377953 1 0 0 1 0.862463127 0.862463127 1 0 0 1 9 8 1 1 0.000505952 1 2.24E-08 0.039306956 5.42E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 41638147 G A - - - - - - 31 0 0 38 1 2.6 49 12 24.5 74 17 23 0 0 NA 2 2 100 1 0 0 1 0 0 NA TRUE FALSE 0.217176471 0.217176471 1 1.690427729 0.845213864 2 0.954409449 0.954409449 1 8.352941176 4.176470588 2 0 0 1 NA NA 1 9 NA 1 1 0.173434892 0.000025 1.9E-17 1 1.34E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 43467319 G A TTC17 CCDS31466.1 r.? - - intronic 34 0 0 32 1 3.1 36 7 19.4 71 23 32.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.258941176 0.258941176 1 1.338542773 1.338542773 1 1.344472441 1.344472441 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.14819814 1 5.74E-10 1 2.51E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 43868512 G A HSD17B12 CCDS7905.1 r.? - - intronic 36 0 0 39 5 12.8 46 11 23.9 88 27 30.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.069176471 1.069176471 1 1.649029499 1.649029499 1 1.273929134 1.273929134 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000156 1 5.55E-16 1 1.86E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 44403450 G C - - - - - - 43 0 0 35 3 8.6 50 8 16 95 27 28.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.718352941 0.718352941 1 1.103952802 1.103952802 1 1.178488189 1.178488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000725791 1 1.74E-10 1 2.05E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 44416822 C T - - - - - - 31 0 0 39 3 7.7 35 5 14.3 80 20 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.643176471 0.643176471 1 0.986657817 0.986657817 1 1.037401575 1.037401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000998458 1 0.000000895 1 2.53E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 45659497 T C - - - - - - 28 0 0 41 0 0 35 4 11.4 68 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.672566372 0.672566372 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000289 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 55588048 G C OR5D18 CCDS31510.1 r.963g>c c.? p.? 3'UTR variant 40 0 0 27 1 3.7 30 4 13.3 51 19 37.3 1 0 0 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 0.235058824 0.235058824 1 0.651660767 0.651660767 1 0.80180315 0.80180315 1 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 0.126579904 1 0.0000154 1 7.94E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 56324339 G A - - - - - - 33 0 0 27 3 11.1 29 5 17.2 56 23 41.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.705176471 0.705176471 1 0.842749263 0.842749263 1 0.883488189 0.883488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000334187 1 0.000000336 1 3.22E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 58078624 G A - - - - - - 24 0 0 29 5 17.2 25 5 20 52 31 59.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.092705882 1.092705882 1 0.979941003 0.979941003 1 1.281165354 1.281165354 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000336 1 0.000000153 1 8.07E-58 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 68260883 C T SAPS3 CCDS8182.1 r.? - - intronic 39 0 0 29 3 10.3 41 5 12.2 97 18 18.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.963352941 0.963352941 1 0.597764012 0.597764012 1 0.925592514 0.925592514 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000414371 1 0.00000202 1 4.4E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 70787610 C G SHANK2 ENST00000338508 r.? - - intronic 32 0 0 49 0 0 52 5 9.6 108 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.470371681 0.470371681 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.00000668 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 70994770 G A - - - - - - 26 0 0 29 5 17.2 25 6 24 88 18 20.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.608705882 1.608705882 1 1.175929204 1.175929204 1 1.020142287 1.020142287 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000336 1 2.55E-09 1 6.62E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 73383495 G A RAB6A CCDS8223.1 r.? - - downstream 30 0 0 39 2 5.1 31 6 19.4 126 34 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.477 0.477 1 0.950542773 0.950542773 1 1.343602036 0.735536129 1.826697537 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.016387522 1 1.03E-08 1 2.4E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 76467311 C A - - - - - - 36 0 0 33 2 6.1 28 4 14.3 87 16 18.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.570529412 0.570529412 1 0.700657817 0.700657817 1 0.915639906 0.915639906 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.011909843 1 0.0000116 1 1.29E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 79316966 G T - - - - - - 37 0 0 39 2 5.1 45 5 11.1 91 22 24.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.477 0.477 1 0.543867257 0.543867257 1 1.204265528 1.204265528 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.016387522 1 0.00000323 1 1.2E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 80123786 C T - - - - - - 37 0 0 38 1 2.6 66 9 13.6 94 15 16 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.191176471 0.191176471 1 0.666359882 0.666359882 1 NA NA 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.173434892 1 5.59E-11 1 1.96E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 80301478 C T - - - - - - 28 0 0 31 2 6.5 65 14 21.5 104 39 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.477941176 0.477941176 1 1.053436578 1.053436578 1 NA NA 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.010558179 1 2.93E-19 1 8.11E-62 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 80382355 C G - - - - - - 24 0 0 34 0 0 54 4 7.4 86 17 19.8 10 0 0 426 24 5.6 558 40 7.2 1.35E-21 539 82 15.2 FALSE FALSE 0 0 1 0.362578171 0.362578171 1 NA NA 1 0.411764706 0.411764706 1 0.352778761 0.352778761 1 NA NA 1 NA NA 1 1 1 9.18E-18 0.000161898 1.55E-32 2.19E-22 6.67E-92 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 80567828 T A - - - - - - 30 0 0 41 3 7.3 60 5 8.3 102 29 28.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.536764706 0.536764706 1 0.406675516 0.406675516 1 NA NA 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.001155993 1 0.0000136 1 3.18E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 81225999 A C - - - - - - 37 0 0 42 1 2.4 48 5 10.4 77 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.176470588 0.176470588 1 0.509569322 0.509569322 1 NA NA 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.189842622 1 0.00000447 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 81264109 G T - - - - - - 29 0 0 53 1 1.9 53 4 7.5 100 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.139705882 0.139705882 1 0.367477876 0.367477876 1 NA NA 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.233303855 1 0.000150502 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 81972220 A G AP002802.1 ENST00000500502 r.? - - intronic 27 0 0 28 4 14.3 30 7 23.3 67 28 41.8 2 0 0 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.051470588 1.051470588 1 1.141631268 1.141631268 1 NA NA 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.0000116 1 1.44E-10 1 1.81E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 84148535 A G DLG2 CCDS41696.1 r.? - - intronic 39 0 0 24 2 8.3 39 6 15.4 76 26 34.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.610294118 0.610294118 1 0.754554572 0.754554572 1 NA NA 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.006413403 1 4.43E-08 1 1.8E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 85640479 A T - - - - - - 32 0 0 33 1 3 41 11 26.8 66 19 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.220588235 0.220588235 1 1.581120944 1.581120944 1 0.907086614 0.907086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.15245715 1 1.34E-16 1 2.64E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 88077734 C T - - - - - - 28 0 0 31 2 6.5 28 4 14.3 71 19 26.8 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 0.477941176 0.477941176 1 0.843657817 0.843657817 1 0.844094488 0.844094488 1 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 0.010558179 1 0.0000116 1 1.29E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 89234037 C T - - - - - - 34 0 0 25 2 8 34 6 17.6 62 19 30.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.588235294 0.588235294 1 1.038348083 1.038348083 1 0.963779528 0.963779528 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006948068 1 1.86E-08 1 6.66E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 89536119 A G TRIM49 CCDS8287.1 r.? - - intronic 10 0 0 9 0 0 11 3 27.3 23 12 52.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.610619469 1.610619469 1 1.644094488 1.644094488 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 0.00002 1 3.14E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 91493169 G A - - - - - - 33 0 0 39 4 10.3 39 5 12.8 56 15 26.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 0.755162242 0.755162242 1 0.844094488 0.844094488 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000447 1 0.00000156 1 4.09E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 100258785 G C - - - - - - 32 0 0 34 3 8.8 34 5 14.7 68 20 29.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.559058824 0.559058824 1 0.867256637 0.867256637 1 0.925984252 0.925984252 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000666058 1 0.000000771 1 6.23E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 100324161 T G - - - - - - 18 0 0 32 5 15.6 24 6 25 66 27 40.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.11495506 1.11495506 1 1.474926254 1.474926254 1 1.288188976 1.288188976 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 1.95E-09 1 1.51E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 103438157 T C - - - - - - 41 0 0 24 2 8.3 49 9 18.4 71 12 16.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.593213269 0.593213269 1 1.085545723 1.085545723 1 0.532283465 0.532283465 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.006413403 1 3.35E-12 1 2.38E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 103678059 C T - - - - - - 27 0 0 31 0 0 27 6 22.2 67 19 28.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 NA 0 1.309734513 1.309734513 1 0.894488189 0.894488189 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 1 1 4.23E-09 1 3.67E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 104366731 T C - - - - - - 26 0 0 35 3 8.6 37 6 16.2 53 18 34 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.614654713 0.614654713 1 0.955752212 0.955752212 1 1.070866142 1.070866142 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000725791 1 3.18E-08 1 2.09E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 104599062 G C - - - - - - 22 0 0 33 2 6.1 40 5 12.5 53 12 22.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.435976017 0.435976017 1 0.737463127 0.737463127 1 0.711811024 0.711811024 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.011909843 1 0.00000178 1 5.39E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 106769781 T A GUCY1A2 CCDS8335.1 r.? - - intronic 27 0 0 31 0 0 48 5 10.4 67 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 NA 0 0.613569322 0.613569322 1 0 0 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 1 1 0.00000447 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 107917332 G T CUL5 CCDS31668.1 r.? - - intronic 36 0 0 35 0 0 47 5 10.6 66 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 NA 0 0.625368732 0.625368732 1 0 0 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 1 1 0.00000402 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 108265844 T A C11orf65 CCDS8340.1 r.? - - intronic 22 0 0 32 1 3.1 21 4 19 74 23 31.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.221561582 NA 0 1.120943953 1.120943953 1 0.979527559 0.979527559 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 0.14819814 1 0.00000349 1 7.7E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 111218388 T A POU2AF1 CCDS31675.1 r.? - - downstream 43 0 0 32 2 6.2 35 7 20 73 22 30.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.443123165 0.443123165 1 1.179941003 1.179941003 1 0.948031496 0.948031496 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.011224977 1 4.65E-10 1 4.79E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 112864398 C T - - - - - - 33 0 0 29 3 10.3 44 7 15.9 57 14 24.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.736156226 0.736156226 1 0.938053097 0.938053097 1 0.77480315 0.77480315 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000414371 1 2.55E-09 1 3.84E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 114492553 G A - - - - - - 25 0 0 30 4 13.3 31 8 25.8 54 16 29.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.95057066 0.95057066 1 1.522123894 1.522123894 1 0.932283465 0.932283465 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000154 1 2.78E-12 1 2.69E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 114616589 C T - - - - - - 25 0 0 27 2 7.4 28 5 17.9 64 20 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.528888939 0.528888939 1 1.056047198 1.056047198 1 0.982677165 0.982677165 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00807567 1 0.000000279 1 1.52E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 115698902 C A - - - - - - 35 0 0 22 0 0 33 4 12.1 76 0 0 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 FALSE FALSE 0 NA 0 0.713864307 0.713864307 1 0 0 1 NA NA 0 NA NA 1 0 0 1 NA NA 1 1 1 1 0.0000228 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 116170258 G A - - - - - - 31 0 0 32 2 6.2 49 7 14.3 84 22 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.443123165 0.443123165 1 0.843657817 0.843657817 1 0.82519685 0.82519685 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.011224977 1 5.58E-09 1 1.66E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 116274458 C G - - - - - - 30 0 0 30 3 10 39 8 20.5 74 22 29.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.714714782 0.714714782 1 1.209439528 1.209439528 1 0.935433071 0.935433071 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000458697 1 2.09E-11 1 6.78E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 81793317 G A - - - - - - 35 0 0 49 8 16.3 15 5 33.3 43 18 41.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.198529412 1.198529412 1 1.96460177 1.96460177 1 1.319685039 1.319685039 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.47E-10 1 0.000000009 1 2.06E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 120522723 G A - - - - - - 23 0 0 28 5 17.9 24 6 25 59 16 27.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.27933946 1.27933946 1 1.474926254 1.474926254 1 0.853543307 0.853543307 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000000279 1 1.95E-09 1 1.37E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 121883765 C T - - - - - - 31 0 0 33 3 9.1 38 8 21.1 78 21 26.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.650390452 0.650390452 1 1.244837758 1.244837758 1 0.847244094 0.847244094 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000609557 1 1.67E-11 1 1.99E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 123112778 G C - - - - - - 31 0 0 39 4 10.3 38 7 18.4 62 14 22.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.736156226 0.736156226 1 1.085545723 1.085545723 1 0.711811024 0.711811024 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000447 1 8.61E-10 1 1.42E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 123903802 G T OR10G8 CCDS31704.1 r.? - - downstream 29 0 0 36 3 8.3 40 6 15 61 18 29.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.593213269 0.593213269 1 0.884955752 0.884955752 1 0.929133858 0.929133858 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000788827 1 5.18E-08 1 4.08E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 124015678 G T VWA5A CCDS8444.1 r.? - - intronic 29 0 0 33 3 9.1 42 9 21.4 61 16 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.650390452 0.650390452 1 1.262536873 1.262536873 1 0.82519685 0.82519685 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000609557 1 7.51E-13 1 2.5E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 131029292 C T - - - - - - 34 0 0 33 4 12.1 39 6 15.4 57 11 19.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.864804886 0.864804886 1 0.908554572 0.908554572 1 0.607874016 0.607874016 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 4.43E-08 1 7.29E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 131680005 T C OPCML CCDS41733.1 r.? - - intronic 37 0 0 23 1 4.3 32 6 18.8 64 13 20.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.307327356 NA 0 1.109144543 1.109144543 1 0.639370079 0.639370079 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 0.108890944 1 1.27E-08 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 132927783 A T ENSG00000183715 CCDS31722.1 r.? - - intronic 29 0 0 30 3 10 38 6 15.8 61 23 37.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.714714782 0.714714782 1 0.932153392 0.932153392 1 1.187401575 1.187401575 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000458697 1 3.76E-08 1 3.73E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 133045872 G A ENSG00000183715 CCDS31722.1 r.? - - intronic 29 0 0 31 2 6.5 33 6 18.2 52 12 23.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.464564608 0.464564608 1 1.073746313 1.073746313 1 0.727559055 0.727559055 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.010558179 1 1.54E-08 1 4.19E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 532327 C T CCDC77 CCDS8503.1 r.? - - intronic 24 0 0 26 1 3.8 26 4 15.4 80 10 12.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.393411765 0.393411765 1 1.109905537 1.109905537 1 0.768700787 0.768700787 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.122190858 1 0.00000856 1 1.17E-11 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 44159666 C A LOXHD1 ENST00000398722 r.1049g>u c.902G>T p.G301V missense 34 0 0 29 4 13.8 17 2 11.8 43 18 41.9 277 0 0 142 20 14.1 80 19 23.8 6.48E-21 47 18 38.3 TRUE TRUE 0.876705882 0.876705882 1 0.578165192 0.578165192 1 0.900685039 0.900685039 1 0.895764706 0.895764706 1 1.166129794 1.166129794 1 0.823299213 0.823299213 1 9 11 1 1 0.0000134 5.98E-23 0.003234386 1.65E-26 2.06E-30 1.52E-29 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 12 3404612 C A - - - - - - 22 0 0 41 0 0 9 3 33.3 106 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 2.399990544 2.399990544 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.0000103 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 83260297 A G - - - - - - 15 0 0 28 4 14.3 22 4 18.2 54 10 18.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 1.073746313 1.073746313 1 0.582677165 0.582677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000116 1 0.00000425 1 1.91E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 10512492 G T AC022075.1 ENST00000500682 r.? - - upstream 25 0 0 28 0 0 65 4 6.2 124 10 8.1 1 0 0 1 0 0 0 0 NA 1 2 0 0 TRUE FALSE 0 0 1 0.446845086 0.446845086 1 0.49811811 0.49811811 1 0 0 1 NA NA 0 0 0 1 5 NA 1 1 1 1 0.000331785 1 9.49E-10 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 1943759 G A LRTM2 CCDS31726.1 r.1529g>a c.985G>A p.A329T missense 18 0 0 38 17 44.7 6 4 66.7 91 61 67 172 0 0 27 8 29.6 17 12 70.6 5.91E-21 31 17 54.8 TRUE TRUE 4.627764706 1.156941176 4 4.807188267 1.602396089 3 4.12023622 1.030059055 4 3.064470588 1.021490196 3 5.08826824 1.696089413 3 3.369984252 1.123328084 3 9 12 1 1 1.99E-29 7.97E-13 9.3E-09 1.48E-24 3.76E-117 1.89E-31 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 101039379 A G IMPG2 CCDS2940.1 r.26u>c c.? p.? 5'UTR variant 46 0 0 56 0 0 38 5 13.2 60 1 1.7 117 0 0 184 0 0 223 9 4 0.000470784 245 0 0 TRUE TRUE 0 0 1 0.778761062 0.778761062 1 0.053543307 0.053543307 1 0 0 1 0.235988201 0.235988201 1 0 0 1 3 3 1 1 1 1 0.00000137 0.00000239 0.259739042 1 YES 0_0 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 12 17822311 G A - - - - - - 36 0 0 39 4 10.3 47 5 10.6 78 25 32.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.860352941 0.860352941 1 0.731368732 0.731368732 1 1.332023622 1.332023622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000447 1 0.00000402 1 3.94E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 20829392 A G PDE3A CCDS31754.1 r.? - - intronic 35 0 0 37 3 8.1 26 6 23.1 62 12 19.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.676588235 0.676588235 1 1.593831858 1.593831858 1 0.805023622 0.805023622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000855237 1 3.3E-09 1 4.19E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 20846075 T A SLCO1C1 CCDS8683.1 r.? - - upstream 42 0 0 41 2 4.9 46 6 13 65 13 20 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.409294118 0.409294118 1 0.896961652 0.896961652 1 0.82992126 0.82992126 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.018015855 1 0.000000123 1 1.57E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 21023063 T A SLCO1B3 CCDS8684.1 r.? - - intronic 36 0 0 41 3 7.3 37 4 10.8 84 17 20.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.609764706 0.609764706 1 0.745168142 0.745168142 1 0.838220472 0.838220472 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001155993 1 0.0000362 1 1.42E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 24930357 G C - - - - - - 35 0 0 33 3 9.1 36 5 13.9 98 24 24.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.760117647 0.760117647 1 0.959058997 0.959058997 1 1.016653543 1.016653543 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000609557 1 0.00000104 1 1.92E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 28213777 G T - - - - - - 33 0 0 30 1 3.3 29 8 27.6 106 22 20.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.275647059 0.275647059 1 1.904318584 0.952159292 2 0.86311811 0.86311811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.139615808 1 1.53E-12 1 4.91E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 29040502 C T - - - - - - 45 0 0 39 2 5.1 46 9 19.6 88 16 18.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.426 0.426 1 1.352342183 1.352342183 1 0.755228346 0.755228346 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.016387522 1 1.82E-12 1 1.57E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 29087263 C T - - - - - - 28 0 0 41 2 4.9 51 8 15.7 75 20 26.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.409294118 0.409294118 1 1.083253687 1.083253687 1 1.107944882 1.107944882 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.018015855 1 2.05E-10 1 5.89E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 31646151 C G DENND5B CCDS44857.1 r.? - - intronic 28 0 0 36 0 0 37 4 10.8 88 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.745168142 0.745168142 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000362 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 33169217 G A - - - - - - 26 0 0 40 4 10 38 5 13.2 93 24 25.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.835294118 0.835294118 1 0.910761062 0.910761062 1 1.070598425 1.070598425 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000495 1 0.00000137 1 4.66E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 33772683 C G - - - - - - 42 0 0 31 4 12.9 42 6 14.3 73 8 11 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.077529412 1.077529412 1 0.986657817 0.986657817 1 0.456456693 0.456456693 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000177 1 7.02E-08 1 3.93E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 38286324 G A - - - - - - 35 0 0 27 2 7.4 22 6 27.3 45 14 31.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.544117647 0.544117647 1 1.610619469 1.610619469 1 0.959318991 0.959318991 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00807567 1 1.09E-09 1 8.81E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 40646273 G A LRRK2 CCDS31774.1 r.? - - intronic 39 0 0 38 4 10.5 24 5 20.8 84 27 32.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.772058824 0.772058824 1 1.227138643 1.227138643 1 0.990165261 0.990165261 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000403 1 0.000000123 1 4.25E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 44578580 A G TMEM117 CCDS8745.1 r.? - - intronic 33 0 0 25 2 8 41 5 12.2 58 22 37.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.588235294 0.588235294 1 0.719764012 0.719764012 1 1.169073626 1.169073626 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.006948068 1 0.00000202 1 1.13E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 46131151 T C ARID2 CCDS31783.1 r.? - - intronic 34 0 0 32 1 3.1 37 6 16.2 58 19 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.227941176 0.227941176 1 0.955752212 0.955752212 1 1.01175765 1.01175765 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.14819814 1 3.18E-08 1 1.5E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 3097068 A C - - - - - - 26 0 0 33 0 0 35 4 11.4 75 0 0 78 0 0 170 11 6.5 162 15 9.3 1.37E-10 221 1 0.5 TRUE TRUE 0 0 1 0.701242931 0.701242931 1 0 0 1 0.497409404 0.497409404 1 0.572066602 0.572066602 1 0.020748031 0.020748031 1 3 7 1 1 1 1.45E-09 0.0000289 8.34E-15 1 0.669705878 YES 0_1 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 12 50887990 T C - - - - - - 28 0 0 39 2 5.1 39 8 20.5 72 27 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.375 0.375 1 1.209439528 1.209439528 1 1.156735118 1.156735118 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.016387522 1 2.09E-11 1 2.82E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 52496506 C T AC068987.1 ENST00000513193 r.? - - intronic 29 0 0 37 2 5.4 40 6 15 69 30 43.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.397058824 0.397058824 1 0.884955752 0.884955752 1 1.341812737 1.341812737 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.014826063 1 5.18E-08 1 2.44E-50 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 56729832 G A PAN2 CCDS44922.1 r.? - - upstream 25 0 0 36 2 5.6 30 5 16.7 58 17 29.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.411764706 0.411764706 1 0.985250737 0.985250737 1 0.903795705 0.903795705 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.014070883 1 0.000000401 1 1.24E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 57450497 A G TMEM194A CCDS44927.1 r.4546u>c c.? p.? 3'UTR variant 39 0 0 27 2 7.4 39 6 15.4 60 17 28.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.544117647 0.544117647 1 0.908554572 0.908554572 1 0.872949436 0.872949436 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00807567 1 4.43E-08 1 2.41E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 57689653 T A R3HDM2 CCDS8937.2 r.? - - intronic 32 0 0 34 1 2.9 15 3 20 54 2 3.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.213235294 0.213235294 1 1.179941003 1.179941003 1 0.114131198 0.114131198 1 NA NA 1 NA NA 1 NA NA 0 7 NA 1 1 0.156694864 1 0.0000544 1 0.030129377 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 60635714 G A - - - - - - 41 0 0 32 2 6.2 40 5 12.5 66 20 30.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.455882353 0.455882353 1 0.737463127 0.737463127 1 0.934641975 0.934641975 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.011224977 1 0.00000178 1 3.11E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 62041995 T C - - - - - - 24 0 0 35 3 8.6 33 6 18.2 66 27 40.9 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 0.632352941 0.632352941 1 1.073746313 1.073746313 1 1.261612435 1.261612435 1 NA NA 1 0 0 1 NA NA 0 9 NA 1 1 0.000725791 1 1.54E-08 1 1.51E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 62820709 G A - - - - - - 31 0 0 31 3 9.7 47 10 21.3 47 12 25.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.713235294 0.713235294 1 1.256637168 1.256637168 1 0.78657988 0.78657988 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000505952 1 4.27E-14 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 65787606 T G MSRB3 CCDS31853.1 r.? - - intronic 35 0 0 30 0 0 20 3 15 44 0 0 3 0 0 213 0 0 256 8 3.1 0.004633042 230 0 0 FALSE FALSE 0 0 1 0.884955752 0.884955752 1 0 NA 0 0 0 1 0.182890855 0.182890855 1 0 NA 0 NA NA 1 1 1 1 0.0001337 0.0000535 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 66312028 G A HMGA2 CCDS44936.1 r.? - - intronic 27 0 0 36 3 8.3 52 5 9.6 60 14 23.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.610294118 0.610294118 1 0.566371681 0.566371681 1 0.718718087 0.718718087 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000788827 1 0.00000668 1 8.54E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 67908639 C T - - - - - - 26 0 0 29 3 10.3 36 5 13.9 53 15 28.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 0.820058997 0.820058997 1 0.872949436 0.872949436 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000414371 1 0.00000104 1 1.6E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 68635465 T C - - - - - - 33 0 0 41 2 4.9 53 7 13.2 56 23 41.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.360294118 0.360294118 1 0.778761062 0.778761062 1 1.267781689 1.267781689 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.018015855 1 9.85E-09 1 3.22E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 99576192 C T - - - - - - 15 0 0 34 6 17.6 3 2 66.7 39 14 35.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.294117647 1.294117647 1 3.935103245 3.935103245 1 1.130708661 1.130708661 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.86E-08 1 0.0000748 1 8.19E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 71814496 G T TSPAN8 CCDS8999.1 r.? - - intronic 36 1 2.8 36 3 8.3 30 7 23.3 68 18 26.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.610294118 0.610294118 1 1.374631268 1.374631268 1 0.81742615 0.81742615 1 NA NA 1 NA NA 1 NA NA 0 9 NA 0.165106833 1 0.000788827 1 1.44E-10 1 3.83E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 72766515 T A TRHDE CCDS9004.1 r.? - - intronic 34 0 0 26 6 23.1 32 4 12.5 56 11 19.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.698529412 1.698529412 1 0.737463127 0.737463127 1 0.604586888 0.64660269 0.935020682 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 3.3E-09 1 0.0000201 1 5.91E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 78257614 G T NAV3 CCDS41815.1 r.? - - intronic 40 0 0 37 3 8.1 45 5 11.1 42 11 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.595588235 0.595588235 1 0.654867257 0.654867257 1 0.808172269 0.808172269 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000855237 1 0.00000323 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 79283949 G A SYT1 CCDS9017.1 r.? - - intronic 37 0 0 31 1 3.2 32 6 18.8 60 18 30 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.235294118 0.235294118 1 1.109144543 1.109144543 1 0.925388094 0.925388094 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.143917729 1 1.27E-08 1 2.89E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 79741746 T C SYT1 CCDS9017.1 r.? - - intronic 42 0 0 29 1 3.4 34 6 17.6 60 26 43.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.25 0.25 1 1.038348083 1.038348083 1 1.335643483 1.335643483 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.135292269 1 1.86E-08 1 8.84E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 79779329 C A SYT1 CCDS9017.1 r.? - - intronic 28 0 0 41 4 9.8 31 8 25.8 69 28 40.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.720588235 0.720588235 1 1.522123894 1.522123894 1 1.252358554 1.252358554 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000546 1 2.78E-12 1 5.13E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 81557653 G A ACSS3 CCDS9022.1 r.? - - intronic 31 0 0 29 3 10.3 36 5 13.9 63 19 30.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 0.820058997 0.820058997 1 0.931557348 0.931557348 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000414371 1 0.00000104 1 9.48E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 81775615 C T PPFIA2 ENST00000443686 r.? - - intronic 34 0 0 30 2 6.7 39 7 17.9 48 12 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.492647059 0.492647059 1 1.056047198 1.056047198 1 0.771156745 0.771156745 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.009909649 1 1.04E-09 1 1.44E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 82066727 C A - - - - - - 35 0 0 40 2 5 36 6 16.7 53 16 30.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.367647059 0.367647059 1 0.985250737 0.985250737 1 0.931557348 0.931557348 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.017193422 1 2.68E-08 1 1.9E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 82511038 T C - - - - - - 36 0 0 30 5 16.7 35 9 25.7 45 19 42.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 1.516224189 1.516224189 1 1.301712586 1.301712586 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000000401 1 1.23E-13 1 4.11E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 82698153 A C - - - - - - 24 0 0 28 2 7.1 30 5 16.7 58 24 41.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.522058824 0.522058824 1 0.985250737 0.985250737 1 1.27703557 1.27703557 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.008668191 1 0.000000401 1 6.49E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 83448851 C T TMTC2 CCDS9025.1 r.? - - intronic 29 0 0 32 2 6.2 38 5 13.2 64 23 35.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.455882353 0.455882353 1 0.778761062 0.778761062 1 1.107381086 1.107381086 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.011224977 1 0.00000137 1 1.44E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 83452250 A G TMTC2 CCDS9025.1 r.? - - intronic 35 0 0 42 3 7.1 34 4 11.8 57 17 29.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.522058824 0.522058824 1 0.696165192 0.696165192 1 0.91921884 0.91921884 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.001240292 1 0.0000257 1 8.82E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 83841904 C T - - - - - - 25 0 0 32 2 6.2 33 8 24.2 56 22 39.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.455882353 0.455882353 1 1.427728614 1.427728614 1 1.212258403 1.212258403 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.011224977 1 4.85E-12 1 4.34E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 84293919 T C - - - - - - 33 0 0 28 3 10.7 40 4 10 52 15 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.786764706 0.786764706 1 0.589970501 0.589970501 1 0.88837257 0.88837257 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000372895 1 0.0000495 1 1.15E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 85312588 T G - - - - - - 34 0 0 28 3 10.7 24 3 12.5 68 14 20.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.786764706 0.786764706 1 0.737463127 0.737463127 1 0.635433158 0.679592623 0.935020682 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000372895 1 0.000233853 1 5.84E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 85801713 G A - - - - - - 27 0 0 35 2 5.7 38 8 21.1 68 19 27.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.419117647 0.419117647 1 1.244837758 1.244837758 1 0.860610928 0.860610928 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.013332991 1 1.67E-11 1 5.06E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 86722209 A G - - - - - - 33 0 0 32 3 9.4 38 10 26.3 66 22 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.691176471 0.691176471 1 1.551622419 1.551622419 1 1.027180785 1.027180785 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000556213 1 4.06E-15 1 3.52E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 90329131 T C - - - - - - 28 0 0 30 3 10 36 7 19.4 67 18 26.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 1.144542773 1.144542773 1 0.829764658 0.829764658 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000458697 1 5.74E-10 1 2.83E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 92123355 C T - - - - - - 37 0 0 35 3 8.6 31 7 22.6 66 15 22.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.632352941 0.632352941 1 1.333333333 1.333333333 1 0.700210325 0.700210325 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000725791 1 1.85E-10 1 6.45E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 92150519 G C - - - - - - 39 0 0 35 3 8.6 44 6 13.6 80 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.632352941 0.632352941 1 0.802359882 0.802359882 1 0 NA 0 NA NA 1 NA NA 1 NA NA 0 NA NA 1 1 0.000725791 1 9.37E-08 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 98437065 G A - - - - - - 27 0 0 26 2 7.7 27 7 25.9 54 20 37 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.566176471 0.566176471 1 1.528023599 1.528023599 1 1.141311983 1.141311983 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.007502227 1 6.36E-11 1 2.61E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 101022869 G C GAS2L3 CCDS9079.1 r.? - - downstream 28 0 0 39 4 10.3 24 8 33.3 52 18 34.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 1.96460177 1.96460177 1 1.067280935 1.067280935 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000447 1 2.68E-13 1 1.39E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 110749358 G A ATP2A2 CCDS9144.1 r.? - - intronic 31 0 0 24 1 4.2 15 4 26.7 46 16 34.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.308823529 0.308823529 1 1.575221239 1.575221239 1 1.073450189 1.073450189 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.113346489 1 0.000000816 1 1.31E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 115715503 G C - - - - - - 37 0 0 38 3 7.9 42 5 11.9 88 29 33 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.580882353 0.580882353 1 0.702064897 0.702064897 1 1.017926904 1.017926904 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000925091 1 0.00000228 1 2.12E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 117733265 C A NOS1 CCDS41842.1 r.? - - intronic 37 0 0 31 0 0 37 6 16.2 57 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0.955752212 0.955752212 1 0 NA 0 NA NA 1 NA NA 1 NA NA 0 NA NA 1 1 1 1 3.18E-08 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 119410772 C A - - - - - - 41 0 0 38 0 0 36 6 16.7 65 21 32.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.985250737 0.985250737 1 0.996334515 0.996334515 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1 1 2.68E-08 1 2.35E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 119575875 C T SRRM4 CCDS44994.1 r.? - - intronic 29 0 0 30 1 3.3 28 6 21.4 65 21 32.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.242647059 0.242647059 1 1.262536873 1.262536873 1 0.996334515 0.996334515 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.139615808 1 5.36E-09 1 2.35E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 124381794 G A DNAH10 CCDS9255.2 r.? - - intronic 30 0 0 39 2 5.1 34 9 26.5 56 20 35.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.375 0.375 1 1.563421829 1.563421829 1 1.101211832 1.101211832 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.016387522 1 9.15E-14 1 6.31E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 126663697 G T - - - - - - 32 0 0 33 1 3 30 6 20 68 28 41.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.220588235 0.220588235 1 1.179941003 1.179941003 1 1.270866316 1.270866316 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.15245715 1 8.37E-09 1 3.06E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 126687555 G T - - - - - - 35 0 0 29 2 6.9 50 10 20 66 19 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.507352941 0.507352941 1 1.179941003 1.179941003 1 0.88837257 0.88837257 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.009279585 1 8.36E-14 1 2.64E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 127107661 T A - - - - - - 30 0 0 35 6 17.1 37 6 16.2 56 19 33.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.257352941 1.257352941 1 0.955752212 0.955752212 1 1.045688547 1.045688547 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 2.24E-08 1 3.18E-08 1 6.79E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 127743654 A G - - - - - - 26 0 0 28 1 3.6 37 4 10.8 41 11 26.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.264705882 0.264705882 1 0.637168142 0.637168142 1 0.826680031 0.826680031 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.130947004 1 0.0000362 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 131761530 G A - - - - - - 29 0 0 38 0 0 4 3 75 52 0 0 224 9 4 9 0 0 24 0 0 1 20 0 0 FALSE FALSE 0 0 1 4.424778761 4.424778761 1 0 NA 0 0 0 1 0 0 1 0 NA 0 NA NA 1 0.00000247 1 1 0.000000498 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 20188309 C T - - - - - - 36 0 0 24 2 8.3 32 6 18.8 38 20 52.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.527294118 0.527294118 1 0.921144543 0.921144543 1 1.192520401 1.192520401 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.006413403 1 1.27E-08 1 2.94E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 136190578 T G - - - - - - 38 0 0 38 3 7.9 52 8 15.4 79 27 34.2 31 0 0 128 13 10.2 148 28 18.9 3.92E-27 121 23 19 TRUE TRUE 0.580882353 0.580882353 1 1.001279367 1.001279367 1 1.077165354 1.077165354 1 0.75 0.75 1 1.228842859 1.228842859 1 0.598425197 0.598425197 1 9 8 1 1 0.000925091 1.51E-13 2.42E-10 2.61E-35 5.9E-42 2.47E-29 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 13 24805193 G T SPATA13 CCDS9305.1 r.? - - intronic 29 0 0 31 0 0 26 4 15.4 52 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.754554572 0.754554572 1 0 0 1 NA NA 1 NA NA 1 NA NA 0 3 NA 1 1 1 1 0.00000856 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 27710797 A G USP12 CCDS31952.1 r.? - - intronic 33 0 0 35 2 5.7 29 6 20.7 75 26 34.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.419117647 0.419117647 1 1.19235385 1.19235385 1 1.141378289 1.141378289 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.013332991 1 6.72E-09 1 1.19E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 38142673 A T POSTN CCDS9364.1 r.? - - intronic 34 0 0 16 0 0 31 7 22.6 45 29 64.4 4 0 0 93 13 14 121 24 19.8 5.32E-24 94 41 43.6 TRUE TRUE 0 0 1 1.107333333 1.107333333 1 1.461214383 1.305401486 1.119360135 0.889411765 0.889411765 1 0.970141593 0.970141593 1 0.989269365 0.989269365 1 9 12 1 1 1 2.18E-15 1.85E-10 5.07E-31 1.11E-55 2.67E-68 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146338915 C G CNTNAP2 CCDS5889.1 r.? - - intronic 36 0 0 41 3 7.3 52 7 13.5 90 13 14.4 103 0 0 551 37 6.7 417 40 9.6 2.83E-26 446 87 19.5 TRUE TRUE 0.536764706 0.536764706 1 0.877744899 0.877744899 1 0.453543307 0.453543307 1 0.492647059 0.492647059 1 0.624174151 1.036646345 0.602109054 0.614173228 0.614173228 1 9 8 1 1 0.001155993 3.31E-29 8.58E-09 1.63E-37 1.4E-15 2E-107 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 13 39709336 A C - - - - - - 27 0 0 25 2 8 33 9 27.3 33 23 69.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.508235294 0.508235294 1 1.337619469 1.337619469 1 1.581469604 1.412833596 1.119360135 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.006948068 1 6.76E-14 1 1.05E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 45623330 C A - - - - - - 29 0 0 31 0 0 22 3 13.6 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 TRUE FALSE 0 0 1 0.666359882 0.666359882 1 0 0 1 NA NA 1 NA NA 1 0 NA 0 3 NA 1 1 1 1 0.000179267 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 49345334 A G - - - - - - 33 0 0 36 3 8.3 37 11 29.7 48 22 45.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.527294118 0.527294118 1 1.455212389 1.455212389 1 1.039186627 1.039186627 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000788827 1 3.7E-17 1 5.76E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 52208806 G C WDFY2 CCDS9429.1 r.? - - intronic 33 0 0 28 1 3.6 33 6 18.2 55 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.228705882 0.228705882 1 0.891746313 0.891746313 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.130947004 1 1.54E-08 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 55967795 C T - - - - - - 37 0 0 43 2 4.7 36 6 16.7 77 20 26 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.298588235 0.298588235 1 0.818250737 0.818250737 1 0.589931273 0.589931273 1 NA NA 1 NA NA 1 NA NA 0 5 NA 1 1 0.019709573 1 2.68E-08 1 1.07E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 56575167 G A - - - - - - 39 0 0 23 3 13 38 9 23.7 53 29 54.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.825882353 0.825882353 1 1.161230088 1.161230088 1 1.241124639 1.241124639 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000205387 1 2.79E-13 1 1.29E-52 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 57263364 C T - - - - - - 34 0 0 21 3 14.3 35 5 14.3 43 24 55.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 0.700657817 0.700657817 1 1.26608327 1.26608327 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000155401 1 0.000000895 1 4.35E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 58785632 C A - - - - - - 20 0 0 29 2 6.9 34 8 23.5 49 27 55.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.438352941 0.438352941 1 1.151430678 1.151430678 1 1.250200505 1.250200505 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.009279585 1 6.32E-12 1 3.33E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 60861070 G A - - - - - - 34 0 0 18 1 5.6 14 9 64.3 46 27 58.7 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 0.355764706 0.355764706 1 3.150510324 3.150510324 1 1.331883297 1.189861293 1.119360135 NA NA 1 0 0 1 NA NA 0 9 NA 1 1 0.086275114 1 3.82E-18 1 2.82E-50 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 64123354 C A - - - - - - 28 0 0 30 3 10 50 11 22 52 21 40.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 1.297935103 1.297935103 1 1.225641244 1.225641244 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000458697 1 1.52E-15 1 7.89E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 64990123 T C - - - - - - 16 0 0 15 3 20 20 4 20 63 21 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 1.179941003 1.179941003 1 1.010243896 1.010243896 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000544 1 0.00000284 1 1.08E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 65082128 T C - - - - - - 26 0 0 32 3 9.4 30 6 20 58 15 25.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.691176471 0.691176471 1 1.179941003 1.179941003 1 0.785745253 0.785745253 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000556213 1 8.37E-09 1 7.42E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 65096876 C T - - - - - - 38 0 0 39 4 10.3 38 9 23.7 61 19 31.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 1.398230088 1.398230088 1 0.943501056 0.943501056 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000447 1 2.79E-13 1 4.64E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 66376715 G A - - - - - - 34 0 0 30 2 6.7 42 5 11.9 80 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.492647059 0.492647059 1 0.702064897 0.702064897 1 0 NA 0 NA NA 1 NA NA 1 NA NA 0 NA NA 1 1 0.009909649 1 0.00000228 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 66904792 T A PCDH9 CCDS9443.1 r.? - - intronic 31 0 0 41 3 7.3 40 5 12.5 61 23 37.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.536764706 0.536764706 1 0.737463127 0.737463127 1 1.143729576 1.143729576 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.001155993 1 0.00000178 1 3.73E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 70285099 G A KLHL1 CCDS9445.1 r.? - - intronic 23 0 0 16 3 18.8 31 4 12.9 45 17 37.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.382352941 1.382352941 1 0.761061947 0.761061947 1 1.146763342 1.146763342 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000667 1 0.0000177 1 7.37E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 112369037 A C - - - - - - 21 0 0 23 0 0 13 3 23.1 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.362831858 1.362831858 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000344 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 72945846 A G - - - - - - 34 0 0 33 3 9.1 31 5 16.1 63 17 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.669117647 0.669117647 1 0.949852507 0.949852507 1 0.819116673 0.819116673 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000609557 1 0.000000476 1 6.22E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 73775750 C T - - - - - - 25 0 0 29 3 10.3 37 8 21.6 84 29 34.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 1.274336283 1.274336283 1 1.046649082 1.046649082 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000414371 1 1.33E-11 1 4.21E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 75576012 A C - - - - - - 39 0 0 34 4 11.8 37 8 21.6 79 21 26.6 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.867647059 0.867647059 1 1.274336283 1.274336283 1 0.806981611 0.806981611 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000257 1 1.33E-11 1 2.69E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 75576309 G C - - - - - - 27 0 0 31 3 9.7 40 7 17.5 63 26 41.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.713235294 0.713235294 1 1.032448378 1.032448378 1 1.252945133 1.252945133 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000505952 1 1.26E-09 1 4.45E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 75743733 G C - - - - - - 28 0 0 31 2 6.5 32 11 34.4 57 19 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.477941176 0.477941176 1 2.029498525 2.029498525 1 1.010243896 1.010243896 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.010558179 1 5.72E-18 1 1.01E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 76375462 G C LMO7 CCDS9454.1 r.? - - intronic 37 0 0 29 4 13.8 44 7 15.9 71 25 35.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.014705882 1.014705882 1 0.938053097 0.938053097 1 1.06788544 1.06788544 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000134 1 2.55E-09 1 2.38E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 78880263 G A - - - - - - 32 0 0 43 4 9.3 35 9 25.7 63 22 34.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.683823529 0.683823529 1 1.516224189 1.516224189 1 1.058784144 1.058784144 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000066 1 1.23E-13 1 1.03E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 81086208 G A - - - - - - 44 0 0 36 2 5.6 30 8 26.7 75 18 24 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.411764706 0.411764706 1 1.575221239 1.575221239 1 0.995905512 0.995905512 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.014070883 1 2.07E-12 1 2.78E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 81382592 G A - - - - - - 39 0 0 30 2 6.7 31 4 12.9 51 20 39.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.492647059 0.492647059 1 0.761061947 0.761061947 1 1.626645669 0.813322835 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009909649 1 0.0000177 1 6.38E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 81717817 T G - - - - - - 40 0 0 35 3 8.6 43 10 23.3 69 21 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.632352941 0.632352941 1 1.374631268 1.374631268 1 1.261480315 1.261480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000725791 1 1.61E-14 1 1.02E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 81820119 C G - - - - - - 34 0 0 29 0 0 31 5 16.1 70 23 32.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.949852507 0.949852507 1 1.365220472 1.365220472 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 0.000000476 1 1.7E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 82926356 G T - - - - - - 28 0 0 21 3 14.3 49 10 20.4 62 17 27.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 1.203539823 1.203539823 1 1.136992126 1.136992126 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000155401 1 6.72E-14 1 4.56E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 84810660 C T - - - - - - 31 0 0 32 3 9.4 48 6 12.5 81 24 29.6 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 TRUE FALSE 0.691176471 0.691176471 1 0.737463127 0.737463127 1 1.228283465 1.228283465 1 NA NA 1 NA NA 1 0 0 1 9 NA 1 1 0.000556213 1 0.00000016 1 1.04E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 84940267 C A - - - - - - 32 0 0 38 4 10.5 47 7 14.9 84 26 31 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.772058824 0.772058824 1 0.879056047 0.879056047 1 1.286377953 1.286377953 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000403 1 4.12E-09 1 3.94E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 87770205 G A - - - - - - 30 0 0 38 4 10.5 46 6 13 75 12 16 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.877058824 0.877058824 1 0.896961652 0.896961652 1 0.663937008 0.663937008 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000403 1 0.000000123 1 4.77E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 87777908 T G - - - - - - 34 0 0 30 2 6.7 47 6 12.8 78 19 24.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.559647059 0.559647059 1 0.883162242 0.883162242 1 1.012503937 1.012503937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009909649 1 0.000000141 1 9.67E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 91478391 G A - - - - - - 38 0 0 47 3 6.4 46 11 23.9 95 22 23.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.534588235 0.534588235 1 1.649029499 1.649029499 1 0.962708661 0.962708661 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001719595 1 5.55E-16 1 3.45E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 91759956 G C - - - - - - 46 0 0 31 3 9.7 51 11 21.6 83 21 25.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.810235294 0.810235294 1 1.490336283 1.490336283 1 1.049850394 1.049850394 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000505952 1 1.94E-15 1 8.7E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 92313439 C A GPC5 CCDS9468.1 r.? - - intronic 28 0 0 30 4 13.3 40 6 15 71 14 19.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.110941176 1.110941176 1 1.034955752 1.034955752 1 0.817472441 0.817472441 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000154 1 5.18E-08 1 1.13E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 92407425 C A GPC5 CCDS9468.1 r.? - - intronic 26 0 0 36 2 5.6 45 6 13.3 65 19 29.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.467764706 0.467764706 1 0.917660767 0.917660767 1 1.211685039 1.211685039 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.014070883 1 0.000000108 1 1.89E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 92452617 T A GPC5 CCDS9468.1 r.? - - intronic 35 0 0 37 3 8.1 62 22 35.5 93 40 43 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.676588235 0.676588235 1 2.44939528 1.22469764 2 1.784330709 0.892165354 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000855237 1 6.75E-35 1 2.33E-66 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 92839848 C T GPC5 CCDS9468.1 r.? - - intronic 39 0 0 32 2 6.2 39 6 15.4 115 31 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.517882353 0.517882353 1 1.062554572 1.062554572 1 1.120393701 1.120393701 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011224977 1 4.43E-08 1 3.32E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 93525691 G T - - - - - - 28 0 0 49 3 6.1 32 5 15.6 85 27 31.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.509529412 0.509529412 1 1.076353982 1.076353982 1 1.319574803 1.319574803 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001939399 1 0.000000562 1 6.2E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 95385366 C T - - - - - - 37 0 0 36 4 11.1 26 6 23.1 81 21 25.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.927176471 0.927176471 1 1.593831858 1.593831858 1 1.074748031 1.074748031 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000324 1 3.3E-09 1 4.88E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 100101878 T C - - - - - - 29 0 0 33 4 12.1 44 6 13.6 99 26 26.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.010705882 1.010705882 1 0.938359882 0.938359882 1 1.091346457 1.091346457 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 9.37E-08 1 5.42E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 101482371 C G - - - - - - 29 0 0 36 0 0 53 6 11.3 97 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.779666667 0.779666667 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000000293 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 104558104 G C - - - - - - 11 0 0 9 2 22.2 15 6 40 49 16 32.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.854352941 1.854352941 1 2.759882006 1.379941003 2 1.35692126 1.35692126 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000879235 1 7.52E-11 1 4.37E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 107172282 G T EFNB2 CCDS9507.1 r.? - - intronic 32 0 0 43 0 0 52 4 7.7 94 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.531277286 0.531277286 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000139698 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 109059640 G A - - - - - - 33 0 0 30 3 10 40 8 20 83 33 39.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.835294118 0.835294118 1 1.379941003 1.379941003 1 1.651543307 0.825771654 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000458697 1 2.61E-11 1 1.36E-53 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 110593109 C G - - - - - - 26 0 0 46 4 8.7 42 5 11.9 108 20 18.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.726705882 0.726705882 1 0.821064897 0.821064897 1 0.767677165 0.767677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000862 1 0.00000228 1 1.84E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 112183403 C G - - - - - - 32 0 0 42 3 7.1 23 5 21.7 88 21 23.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.593058824 0.593058824 1 1.497235988 1.497235988 1 0.991755906 0.991755906 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001240292 1 9.75E-08 1 3.45E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 20336864 G T - - - - - - 70 0 0 61 2 3.3 79 8 10.1 126 18 14.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.242647059 0.242647059 1 0.595870206 0.595870206 1 0.450393701 0.450393701 1 NA NA 1 NA NA 1 NA NA 1 5 NA 1 1 0.037660755 1 7.43E-09 1 6.39E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 21253272 G A RNASE6 CCDS9558.1 r.? - - downstream 27 0 0 32 2 6.2 33 5 15.2 54 29 53.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.455882353 0.455882353 1 0.896755162 0.896755162 1 1.691338583 1.691338583 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011224977 1 0.00000066 1 2.78E-52 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 25053815 C G - - - - - - 24 0 0 37 3 8.1 42 5 11.9 80 21 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.595588235 0.595588235 1 0.702064897 0.702064897 1 0.82519685 0.82519685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000855237 1 0.00000228 1 3.63E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 27737065 T C - - - - - - 35 0 0 29 3 10.3 34 4 11.8 46 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 0.696165192 0.696165192 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.000414371 1 0.0000257 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 116805974 A C - - - - - - 28 0 0 19 2 10.5 24 0 0 59 6 10.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.772058824 0.772058824 1 0 0 1 0.321259843 0.321259843 1 NA NA 1 NA NA 1 NA NA 1 4 NA 1 1 0.004039874 1 1 1 0.000000561 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 30883559 A C - - - - - - 23 0 0 23 1 4.3 37 6 16.2 30 21 70 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.273176471 0.273176471 1 0.793752212 0.793752212 1 1.504724409 1.504724409 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.108890944 1 3.18E-08 1 6.53E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 31369887 G A STRN3 CCDS41938.1 r.? - - intronic 25 0 0 16 0 0 22 4 18.2 48 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.891746313 0.891746313 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000425 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 39064655 T G - - - - - - 21 0 0 29 0 0 30 4 13.3 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.651660767 0.651660767 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000154 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 46667703 T A - - - - - - 32 0 0 28 2 7.1 32 9 28.1 43 17 39.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.451058824 0.451058824 1 1.376817109 1.376817109 1 0.849094488 0.849094488 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.008668191 1 4.94E-14 1 2.84E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 48218586 G T - - - - - - 22 0 0 20 4 20 17 5 29.4 38 19 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.270588235 1.270588235 1 1.440513274 1.440513274 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000284 1 1.84E-08 1 6.16E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 49203819 G T - - - - - - 39 0 0 23 4 17.4 26 9 34.6 48 15 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.105411765 1.105411765 1 1.695297935 1.695297935 1 0.670677165 0.670677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000513 1 5.65E-15 1 2.86E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 53758352 T A - - - - - - 35 0 0 27 0 0 31 3 9.7 45 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.475271386 0.475271386 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000505952 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 60708253 T C PPM1A CCDS45120.1 r.? - - upstream 43 0 0 25 3 12 40 7 17.5 55 27 49.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.762352941 0.762352941 1 0.857448378 0.857448378 1 1.055456693 1.055456693 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00026475 1 1.26E-09 1 2.49E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 61235202 T A MNAT1 CCDS9750.1 r.? - - intronic 38 0 0 13 2 15.4 25 5 20 47 24 51.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.978352941 0.978352941 1 0.979941003 0.979941003 1 1.098448819 1.098448819 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001879825 1 0.000000153 1 8.6E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 61235203 C G MNAT1 CCDS9750.1 r.? - - intronic 38 0 0 14 2 14.3 25 5 20 47 23 48.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 0.979941003 0.979941003 1 1.05115748 1.05115748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.002185852 1 0.000000153 1 1.71E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 63625466 C T - - - - - - 33 0 0 33 3 9.1 42 13 31 50 30 60 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.578117647 0.578117647 1 1.518908555 1.518908555 1 1.28976378 1.28976378 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000609557 1 2.72E-20 1 3.98E-56 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 64737281 C T ESR2 CCDS32096.1 r.? - - intronic 34 0 0 25 3 12 16 5 31.2 43 17 39.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.762352941 0.762352941 1 1.528707965 1.528707965 1 0.849094488 0.849094488 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00026475 1 0.000000013 1 2.84E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 67270597 A G GPHN CCDS9777.1 r.? - - intronic 23 0 0 41 2 4.9 29 6 20.7 27 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.311294118 0.311294118 1 1.014238938 1.014238938 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.018015855 1 6.72E-09 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 67732432 G A MPP5 CCDS9779.1 r.? - - intronic 17 0 0 32 4 12.5 16 5 31.2 41 23 56.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 1.528707965 1.528707965 1 1.205929134 1.205929134 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 0.000000013 1 2.21E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146343663 G T CNTNAP2 CCDS5889.1 r.? - - intronic 28 0 0 35 3 8.6 55 7 12.7 84 18 21.4 38 0 0 377 25 6.6 428 47 11 3.16E-33 417 79 18.9 TRUE TRUE 0.632352941 0.632352941 1 0.825730387 0.825730387 1 0.674015748 0.674015748 1 0.485294118 0.485294118 1 0.715199548 1.187823937 0.602109054 0.595275591 0.595275591 1 9 8 1 1 0.000725791 4.01E-20 1.28E-08 1.47E-46 2.65E-24 1.26E-96 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 14 72187095 T C SIPA1L1 CCDS9807.1 r.? - - intronic 31 0 0 32 4 12.5 44 9 20.5 68 24 35.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 1.004439528 1.004439528 1 0.758811024 0.758811024 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 1.18E-12 1 7.25E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 78975749 T C - - - - - - 36 0 0 44 3 6.8 25 7 28 42 22 52.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.432 0.432 1 1.371917404 1.371917404 1 1.126393701 1.126393701 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00142027 1 3.47E-11 1 1.11E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 84644295 G T - - - - - - 29 0 0 26 2 7.7 23 9 39.1 39 17 43.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.489176471 0.489176471 1 1.915784661 1.915784661 1 0.937228346 0.937228346 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.007502227 1 1.5E-15 1 3.51E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 87955664 T C - - - - - - 30 0 0 21 2 9.5 37 6 16.2 55 21 38.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.603529412 0.603529412 1 0.793752212 0.793752212 1 0.821149606 0.821149606 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.004928472 1 3.18E-08 1 3.41E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 88492451 G T - - - - - - 39 0 0 34 2 5.9 35 6 17.1 37 16 43.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.374823529 0.374823529 1 0.837849558 0.837849558 1 0.928629921 0.928629921 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.012612579 1 2.24E-08 1 1.78E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 91574290 C T - - - - - - 37 0 0 29 5 17.2 10 4 40 52 24 46.2 0 0 NA 0 0 NA 2 0 0 1 0 0 NA TRUE FALSE 1.092705882 1.092705882 1 1.959882006 1.959882006 1 0.99311811 0.99311811 1 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 0.000000336 1 0.000000128 1 2.22E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 92520256 C T ATXN3 ENST00000359819 r.? - - downstream 28 0 0 23 3 13 21 7 33.3 43 19 44.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.825882353 0.825882353 1 1.63160177 1.63160177 1 0.950125984 0.950125984 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000205387 1 8.54E-12 1 1.36E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 105731782 A T BRF1 CCDS10001.1 r.? - - intronic 40 0 0 46 3 6.5 22 7 31.8 40 23 57.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.412941176 0.412941176 1 1.558106195 1.558106195 1 1.236023622 1.236023622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001615827 1 1.25E-11 1 9.75E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 21270809 G T ENSG00000215393 ENST00000400189 r.? - - intronic 7 0 0 18 1 5.6 15 4 26.7 33 4 12.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.355764706 0.355764706 1 1.308221239 1.308221239 1 0.339653626 0.516623958 0.657448461 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.086275114 1 0.000000816 1 0.0000228 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 25229522 C T SNRPN ENST00000346403 r.? - - downstream 32 0 0 27 3 11.1 24 4 16.7 46 20 43.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.705176471 0.705176471 1 0.818250737 0.818250737 1 0.93507874 0.93507874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000334187 1 0.00000613 1 4.72E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 25682588 T G UBE3A CCDS45191.1 r.? - - intronic 36 0 0 27 2 7.4 30 6 20 36 20 55.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.470117647 0.470117647 1 0.979941003 0.979941003 1 1.195181102 1.195181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00807567 1 8.37E-09 1 6.46E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146343788 G C CNTNAP2 CCDS5889.1 r.? - - intronic 25 0 0 31 3 9.7 41 4 9.8 88 21 23.9 273 0 0 403 23 5.7 531 47 8.9 4.89E-29 544 85 15.6 TRUE TRUE 0.713235294 0.713235294 1 0.637177779 0.637177779 1 0.752755906 0.752755906 1 0.419117647 0.419117647 1 0.578661452 0.961057549 0.602109054 0.491338583 0.491338583 1 9 8 1 1 0.000505952 3.29E-17 0.0000546 3.77E-42 3.45E-29 3.1E-96 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 15 34958180 A C - - - - - - 38 0 0 22 1 4.5 31 7 22.6 46 22 47.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.285882353 0.285882353 1 1.107333333 1.107333333 1 1.027511811 1.027511811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.104413009 1 1.85E-10 1 1.68E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 35458756 T C - - - - - - 25 0 0 29 3 10.3 31 7 22.6 32 10 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.654352941 0.654352941 1 1.107333333 1.107333333 1 0.670677165 0.670677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000414371 1 1.85E-10 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146343937 G C CNTNAP2 CCDS5889.1 r.? - - intronic 37 0 0 37 2 5.4 44 6 13.6 95 20 21.1 251 0 0 407 31 7.6 544 62 11.4 2.95E-44 544 75 13.8 TRUE TRUE 0.397058824 0.397058824 1 0.884246713 0.884246713 1 0.664566929 0.664566929 1 0.558823529 0.558823529 1 0.741206804 1.231017535 0.602109054 0.434645669 0.434645669 1 9 8 1 1 0.014826063 2.23E-26 9.37E-08 6.97E-62 1.14E-26 7.36E-81 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 6 126064889 G C HEY2 ENST00000368365 r.? - - upstream 36 0 0 83 1 1.2 117 4 3.4 306 10 3.3 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 0.244235294 0.244235294 1 0.725539538 0.725539538 1 0.532937008 0.532937008 1 NA NA 1 0 0 1 NA NA 0 9 NA 1 1 0.340346757 1 0.002958877 1 0.00000437 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 46410906 C T - - - - - - 29 0 0 39 4 10.3 31 4 12.9 71 16 22.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 0.761061947 0.761061947 1 0.708661417 0.708661417 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000447 1 0.0000177 1 3.77E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 46439230 C A - - - - - - 35 0 0 31 0 0 11 3 27.3 67 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.610619469 1.610619469 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00002 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 46668556 G A - - - - - - 25 0 0 17 2 11.8 34 7 20.6 62 21 33.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.867647059 0.867647059 1 1.215339233 1.215339233 1 1.067716535 1.067716535 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.003234386 1 3.73E-10 1 7.22E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 50696362 T C - - - - - - 22 0 0 40 2 5 38 7 18.4 55 15 27.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.367647059 0.367647059 1 1.085545723 1.085545723 1 0.85984252 0.85984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.017193422 1 8.61E-10 1 3.01E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 54999507 G C - - - - - - 34 0 0 37 0 0 37 6 16.2 69 0 0 2 0 0 59 0 0 105 2 1.9 0.282717219 124 0 0 TRUE TRUE 0 0 1 0.955752212 0.955752212 1 0 0 1 0 0 1 0.112094395 0.112094395 1 0 0 1 3 3 1 1 1 1 3.18E-08 0.097506702 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 54999512 T A - - - - - - 32 0 0 38 1 2.6 38 6 15.8 66 0 0 1 0 0 59 0 0 105 2 1.9 0.282717219 124 0 0 TRUE TRUE 0.191176471 0.191176471 1 0.932153392 0.932153392 1 0 0 1 0 0 1 0.112094395 0.112094395 1 0 0 1 3 3 1 1 0.173434892 1 3.76E-08 0.097506702 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 60693962 C A ANXA2 CCDS10175.1 r.? - - upstream 40 0 0 31 3 9.7 23 5 21.7 60 21 35 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.713235294 0.713235294 1 1.280235988 1.280235988 1 1.102362205 1.102362205 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000505952 1 9.75E-08 1 3.16E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 61500952 C T RORA CCDS10177.1 r.? - - intronic 36 0 0 41 4 9.8 37 7 18.9 53 16 30.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.720588235 0.720588235 1 1.115044248 1.115044248 1 0.951181102 0.951181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000546 1 7.05E-10 1 1.9E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 65966771 T G DENND4A CCDS45285.1 r.? - - intronic 37 0 0 27 3 11.1 39 6 15.4 72 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.908554572 0.908554572 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.000334187 1 4.43E-08 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 68062570 G C MAP2K5 CCDS10224.1 r.? - - intronic 36 0 0 34 4 11.8 37 6 16.2 70 28 40 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.867647059 0.867647059 1 0.955752212 0.955752212 1 1.25984252 1.25984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 3.18E-08 1 8.5E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 71350192 G A - - - - - - 31 0 0 27 3 11.1 35 5 14.3 69 27 39.1 0 0 NA 0 0 NA 0 0 NA 1 1 1 100 TRUE FALSE 0.816176471 0.816176471 1 0.843657817 0.843657817 1 1.231496063 1.231496063 1 NA NA 1 NA NA 1 3.149606299 3.149606299 1 9 NA 1 1 0.000334187 1 0.000000895 1 6.8E-44 0.005 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 73990066 C A CD276 CCDS32288.1 r.? - - intronic 31 0 0 25 0 0 19 3 15.8 51 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.932153392 0.932153392 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000114071 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 75459043 C A - - - - - - 32 0 0 33 1 3 37 4 10.8 59 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.220588235 0.220588235 1 0.637168142 0.637168142 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.15245715 1 0.0000362 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 77102444 A T SCAPER ENST00000303521 r.? - - intronic 34 0 0 31 2 6.5 41 9 22 70 27 38.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.477941176 0.477941176 1 1.297935103 1.297935103 1 1.215748031 1.215748031 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.010558179 1 5.92E-13 1 1.1E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 77199359 G A SCAPER ENST00000303521 r.? - - upstream 21 0 0 23 1 4.3 15 6 40 50 14 28 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.316176471 0.316176471 1 2.359882006 2.359882006 1 0.881889764 0.881889764 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.108890944 1 7.52E-11 1 4.84E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 79670839 G T TMED3 ENST00000424155 r.? - - intronic 29 0 0 27 3 11.1 34 6 17.6 69 19 27.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 1.038348083 1.038348083 1 0.866141732 0.866141732 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000334187 1 1.86E-08 1 6.95E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 82134429 C A - - - - - - 30 0 0 40 0 0 36 4 11.1 67 1 1.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.654867257 0.654867257 1 0.047244094 0.047244094 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000324 1 0.285262761 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 87534539 T C - - - - - - 35 0 0 37 3 8.1 35 4 11.4 65 28 43.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.595588235 0.595588235 1 0.672566372 0.672566372 1 1.357480315 1.357480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000855237 1 0.0000289 1 6.12E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 88950931 A G - - - - - - 32 0 0 33 2 6.1 40 7 17.5 53 17 32.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.448529412 0.448529412 1 1.032448378 1.032448378 1 1.011023622 1.011023622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011909843 1 1.26E-09 1 2.08E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 90047912 G T - - - - - - 34 0 0 31 1 3.2 45 8 17.8 70 26 37.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.235294118 0.235294118 1 1.050147493 1.050147493 1 1.168503937 1.168503937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.143917729 1 7.14E-11 1 1.35E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 90852459 C T - - - - - - 41 0 0 36 0 0 58 6 10.3 67 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.607669617 0.607669617 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000000506 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 94945665 T G MCTP2 CCDS32338.1 r.? - - intronic 39 0 0 46 3 6.5 41 11 26.8 57 19 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.477941176 0.477941176 1 1.581120944 1.581120944 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001615827 1 1.34E-16 1 1.01E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 95374571 C G - - - - - - 34 0 0 33 2 6.1 28 7 25 70 19 27.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.448529412 0.448529412 1 1.474926254 1.474926254 1 0.853543307 0.853543307 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011909843 1 8.44E-11 1 9.5E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 96090637 C T - - - - - - 36 0 0 34 0 0 36 5 13.9 61 1 1.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.820058997 0.820058997 1 0.050393701 0.050393701 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000104 1 0.263440347 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 96650593 C G - - - - - - 30 0 0 29 2 6.9 38 4 10.5 73 26 35.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.507352941 0.507352941 1 0.619469027 0.619469027 1 1.121259843 1.121259843 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009279585 1 0.0000403 1 5.09E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 97532436 T A - - - - - - 24 0 0 33 0 0 51 5 9.8 48 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.578171091 0.578171091 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000606 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 133207438 C T - - - - - - 26 0 0 42 5 11.9 12 1 8.3 108 25 23.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.232 1.232 1 0.738675516 0.738675516 1 1.420559055 0.710279528 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000228 1 0.058377193 1 4.32E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 102299908 C T ENSG00000237157 ENST00000413770 r.? - - downstream 92 0 0 98 0 0 21 4 19 145 0 0 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.120943953 1.120943953 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000349 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 102299916 C A ENSG00000237157 ENST00000413770 r.? - - downstream 91 0 0 99 0 0 21 4 19 143 0 0 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.120943953 1.120943953 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000349 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 6568306 A T - - - - - - 31 0 0 28 3 10.7 37 9 24.3 82 20 24.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.786764706 0.786764706 1 1.433628319 1.433628319 1 0.950518955 0.950518955 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000372895 1 2.14E-13 1 4.4E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 7913107 T A - - - - - - 28 0 0 30 3 10 40 6 15 80 32 40 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 0.884955752 0.884955752 1 1.558227796 0.892474598 1.74596319 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000458697 1 5.18E-08 1 4.04E-52 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 8031176 C T - - - - - - 22 0 0 27 1 3.7 42 6 14.3 70 18 25.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.272058824 0.272058824 1 0.843657817 0.843657817 1 1.001161359 1.001161359 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.126579904 1 7.02E-08 1 6.91E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 9196249 C T C16orf72 CCDS10538.1 r.? - - intronic 26 0 0 36 4 11.1 45 8 17.8 75 16 21.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 1.050147493 1.050147493 1 0.829756301 0.829756301 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000324 1 7.14E-11 1 9.88E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 12252341 G T SNX29 CCDS45416.1 r.? - - intronic 32 0 0 31 0 0 12 3 25 97 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.474926254 1.474926254 1 0 0 1 NA NA 1 NA NA 1 NA NA 0 3 NA 1 1 1 1 0.0000266 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 20177949 T G - - - - - - 27 0 0 26 2 7.7 28 3 10.7 86 45 52.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.566176471 0.566176471 1 0.631268437 0.631268437 1 2.037382843 1.166910536 1.74596319 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.007502227 1 0.000372895 1 1.41E-79 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 20190022 C A - - - - - - 26 1 3.8 25 6 24 41 10 24.4 81 19 23.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.764705882 1.764705882 1 1.439528024 1.439528024 1 0.91545883 0.91545883 1 NA NA 1 NA NA 1 NA NA 1 9 NA 0.122190858 1 2.55E-09 1 9.51E-15 1 2.15E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 21576715 C T - - - - - - 74 0 0 71 2 2.8 74 8 10.8 125 34 27.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.205882353 0.205882353 1 0.637168142 0.637168142 1 1.059594901 1.059594901 1 NA NA 1 NA NA 1 NA NA 0 6 NA 1 1 0.04950591 1 4.39E-09 1 1.76E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 22657001 C T ENSG00000224154 ENST00000430965 r.? - - intronic 61 0 0 66 6 9.1 76 7 9.2 106 22 20.8 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.669117647 0.669117647 1 0.542772861 0.542772861 1 0.810278454 0.810278454 1 NA NA 1 NA NA 1 NA NA 0 6 NA 1 1 0.0000011 1 0.000000126 1 4.91E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 25630904 G C - - - - - - 22 0 0 34 3 8.8 44 11 25 60 10 16.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.647058824 0.647058824 1 1.474926254 1.474926254 1 0.525984252 0.525984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000666058 1 3.22E-16 1 5.86E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 26050517 A T HS3ST4 ENST00000331351 r.? - - intronic 32 0 0 29 2 6.9 37 5 13.5 61 16 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.507352941 0.507352941 1 0.796460177 0.796460177 1 0.82519685 0.82519685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009279585 1 0.00000119 1 2.5E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 151863074 A C C6orf97 CCDS43515.1 r.? - - intronic 30 0 0 32 5 15.6 27 7 25.9 74 28 37.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.303058824 1.303058824 1 1.787023599 1.787023599 1 1.568551181 0.784275591 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 6.36E-11 1 5.88E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 33440353 G A - - - - - - 59 0 0 64 3 4.7 77 7 9.1 110 17 15.5 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 TRUE FALSE 0.366257335 0.832842021 0.439768078 0.536873156 0.536873156 1 0.488188976 0.488188976 1 NA NA 1 NA NA 1 0 NA 0 5 NA 1 1 0.004148608 1 0.000000138 1 1.9E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 33595361 C G - - - - - - 56 0 0 77 3 3.9 46 6 13 110 17 15.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.303915661 0.691081677 0.439768078 0.766961652 0.766961652 1 0.488188976 0.488188976 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.006942426 1 0.000000123 1 1.9E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 33635523 G A - - - - - - 23 0 0 36 3 8.3 60 5 8.3 84 14 16.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.646794868 0.646794868 1 0.489675516 0.489675516 1 0.525984252 0.525984252 1 NA NA 1 NA NA 1 NA NA 0 5 NA 1 1 0.000788827 1 0.0000136 1 1.4E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 46476635 C T - - - - - - 32 0 0 36 2 5.6 47 7 14.9 66 19 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.436391718 0.436391718 1 0.879056047 0.879056047 1 0.907086614 0.907086614 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.014070883 1 4.12E-09 1 2.64E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 46549547 G A ANKRD26P1 ENST00000329373 r.? - - intronic 31 0 0 32 2 6.2 26 6 23.1 51 17 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.483147974 0.483147974 1 1.362831858 1.362831858 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.011224977 1 3.3E-09 1 9.59E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 50714697 G T SNX20 CCDS10744.1 r.? - - intronic 31 0 0 22 0 0 17 4 23.5 60 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.284942195 1.284942195 1 0 0 1 NA NA 1 NA NA 0 NA NA 0 3 NA 1 1 1 1 0.00000141 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 52004399 C T - - - - - - 21 0 0 7 1 14.3 11 4 36.4 25 12 48 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.114357423 1.114357423 1 1.990293443 1.990293443 1 1.511811024 1.511811024 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.034479353 1 0.000000201 1 1.2E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 55293165 G A - - - - - - 29 0 0 21 3 14.3 26 10 38.5 46 14 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.114357423 1.114357423 1 2.105118065 2.105118065 1 0.957480315 0.957480315 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.000155401 1 4.82E-17 1 1.26E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 55327088 C A - - - - - - 21 0 0 26 3 11.5 28 4 14.3 55 15 27.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.896161564 0.896161564 1 0.781900996 0.781900996 1 0.85984252 0.85984252 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000298167 1 0.0000116 1 3.01E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 58579945 A C CNOT1 CCDS10799.1 r.? - 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- - - - - 19 0 0 23 0 0 25 4 16 74 16 21.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.874854261 0.874854261 1 0.87411795 0.87411795 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1 1 0.00000727 1 7.81E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 63434105 A T - - - - - - 17 0 0 30 0 0 26 3 11.5 79 0 0 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 FALSE FALSE 0 NA 0 0.6288015 0.6288015 1 0 0 1 NA NA 1 NA NA 0 0 NA 0 NA NA 1 1 1 1 0.000298167 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 63651669 G T - - - - - - 31 0 0 15 0 0 6 3 50 63 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 2.733919565 2.733919565 1 0 0 1 NA NA 1 NA NA 0 NA NA 0 3 NA 1 1 1 1 0.00000247 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 64043839 T A - - - - - - 36 0 0 35 4 11.4 35 6 17.1 95 29 30.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.888368855 0.888368855 1 0.935000491 0.935000491 1 1.23428692 1.23428692 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.0000289 1 2.24E-08 1 2.9E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 64464842 C G - - - - - - 28 0 0 30 3 10 30 12 40 74 20 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.779270925 0.779270925 1 2.187135652 2.187135652 1 1.092647437 1.092647437 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.000458697 1 1.94E-20 1 4.34E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 64719104 C T - - - - - - 49 0 0 36 2 5.6 39 6 15.4 72 15 20.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.436391718 0.436391718 1 0.842047226 0.842047226 1 0.841743211 0.841743211 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.014070883 1 4.43E-08 1 2.7E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 68479124 C T SMPD3 CCDS10867.1 r.? - - intronic 28 0 0 39 2 5.1 45 9 20 80 14 17.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.397428172 0.397428172 1 1.093567826 1.093567826 1 0.708197413 0.708197413 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.016387522 1 1.47E-12 1 6.76E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 69311586 G A SNTB2 CCDS10873.1 r.? - - intronic 34 0 0 31 2 6.5 39 6 15.4 83 15 18.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.506526102 0.506526102 1 0.842047226 0.842047226 1 0.732478467 0.732478467 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.010558179 1 4.43E-08 1 2.7E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 77288671 G C - - - - - - 38 0 0 38 2 5.3 49 8 16.3 93 18 19.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.413013591 0.413013591 1 0.891257778 0.891257778 1 0.785087418 0.785087418 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.015598339 1 1.47E-10 1 1.95E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 79316209 G A - - - - - - 31 0 0 39 2 5.1 40 5 12.5 69 10 14.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.397428172 0.397428172 1 0.683479891 0.683479891 1 0.586792142 0.653999731 0.89723606 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.016387522 1 0.00000178 1 2.54E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 80566527 G A - - - - - - 32 0 0 40 3 7.5 36 5 13.9 65 12 18.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.584453194 0.584453194 1 0.760029639 0.760029639 1 0.748665837 0.748665837 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.001075403 1 0.00000104 1 7.7E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 81398098 T A GAN CCDS10935.1 r.? - - intronic 26 0 0 44 3 6.8 35 6 17.1 97 15 15.5 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.529904229 0.529904229 1 0.935000491 0.935000491 1 0.627260566 0.699103161 0.89723606 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.00142027 1 2.24E-08 1 3.21E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 81429846 C A - - - - - - 24 0 0 34 0 0 25 4 16 101 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0.874854261 0.874854261 1 0 NA 0 NA NA 1 NA NA 0 NA NA 0 NA NA 1 1 1 1 0.00000727 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 81899286 G A PLCG2 CCDS42204.1 r.? - - intronic 28 0 0 30 0 0 6 3 50 83 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 2.733919565 2.733919565 1 0 NA 0 NA NA 1 NA NA 0 NA NA 0 NA NA 1 1 1 1 0.00000247 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 82203177 C G MPHOSPH6 CCDS10937.1 r.? - - intronic 30 0 0 38 2 5.3 44 8 18.2 93 20 21.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.413013591 0.413013591 1 0.995146722 0.995146722 1 0.870071107 0.870071107 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.015598339 1 5.9E-11 1 7.16E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 82953725 C T CDH13 ENST00000268613 r.? - - intronic 34 0 0 36 2 5.6 30 7 23.3 79 23 29.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.436391718 0.436391718 1 1.274006517 1.274006517 1 1.177631127 1.177631127 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.014070883 1 1.44E-10 1 4.43E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 83058639 G T CDH13 ENST00000268613 r.? - 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- intronic 27 0 0 32 4 12.5 38 9 23.7 47 22 46.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 1.215138943 1.215138943 1 1.006015748 1.006015748 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000201 1 2.79E-13 1 3.14E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 3306903 T A - - - - - - 24 0 0 35 0 0 33 6 18.2 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.933144674 0.933144674 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 1.54E-08 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 5143987 C A - - - - - - 22 0 0 25 2 8 19 4 21.1 50 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.508235294 0.508235294 1 1.081832561 1.081832561 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 7 NA 1 1 0.006948068 1 0.00000228 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 9986507 C T GAS7 CCDS11152.1 r.? - - intronic 36 0 0 35 1 2.9 24 10 41.7 61 32 52.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.184235294 0.184235294 1 2.13802928 1.741827144 1.227463521 1.128543307 1.128543307 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.16091139 1 1.8E-17 1 4.41E-57 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 10489330 T G AC002347.1 ENST00000510453 r.? - 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- downstream 27 0 0 39 1 2.6 47 12 25.5 64 18 28.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.185924326 0.185924326 1 0.994424779 0.994424779 1 0.88503937 0.88503937 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.177567718 1 1.09E-17 1 1.1E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 50241455 A T CA10 CCDS32684.1 r.? - - upstream 32 0 0 36 5 13.9 38 5 13.2 60 17 28.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.993980052 0.993980052 1 0.514761062 0.514761062 1 0.891338583 0.891338583 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000104 1 0.00000137 1 2.41E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 50830689 G T - - - - - - 36 0 0 40 2 5 53 9 17 75 15 20 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.407184658 0.407184658 1 1.172949853 1.172949853 1 0.811031234 0.811031234 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.017193422 1 7.1E-12 1 5.25E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 50977443 T A - - - - - - 27 0 0 31 3 9.7 57 6 10.5 99 21 21.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.789938236 0.789938236 1 0.724469027 0.724469027 1 0.859693108 0.859693108 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000505952 1 0.000000456 1 5.3E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 52264682 C T - - - - - - 35 0 0 33 2 6.1 50 12 24 80 14 17.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.496765283 0.496765283 1 1.655929204 0.827964602 2 0.70965233 0.70965233 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.011909843 1 2.49E-17 1 6.76E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 52297084 G A - - - - - - 27 0 0 36 1 2.8 47 5 10.6 85 22 25.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.228023408 0.228023408 1 0.731368732 0.731368732 1 1.050285449 1.050285449 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.165106833 1 0.00000402 1 2.23E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 54201741 T C - - - - - - 24 0 0 36 1 2.8 30 4 13.3 86 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.228023408 0.228023408 1 0.917660767 0.917660767 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.165106833 1 0.0000154 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 54652774 G A - - - - - - 29 0 0 40 6 15 47 9 19.1 83 21 25.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.221553974 1.221553974 1 NA NA 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 5.18E-08 1 2.24E-12 1 8.7E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 8606482 T G NXPH1 CCDS47540.1 r.? - - intronic 28 0 0 39 1 2.6 37 5 13.5 74 3 4.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.191176471 0.191176471 1 0.796460177 0.796460177 1 0.129133858 0.129133858 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.177567718 1 0.00000119 1 0.006220661 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 68581195 G A - - - - - - 32 0 0 23 4 17.4 40 9 22.5 69 26 37.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.279411765 1.279411765 1 1.358108961 1.358108961 1 1.187401575 1.187401575 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000513 1 4.64E-13 1 8.5E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 70668836 T C SLC39A11 CCDS11690.1 r.? - - intronic 26 0 0 37 0 0 35 4 11.4 63 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.68810854 0.68810854 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.0000289 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 71134216 T G - - - - - - 30 0 0 32 0 0 30 3 10 61 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.603603983 0.603603983 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.000458697 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 71151535 G C - - - - - - 25 0 0 32 3 9.4 19 3 15.8 57 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.691176471 0.691176471 1 0.953694293 0.953694293 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 7 NA 1 1 0.000556213 1 0.000114071 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 73258161 G T GGA3 CCDS11717.1 r.? - - upstream 24 0 0 14 2 14.3 11 4 36.4 47 9 19.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 2.197118497 2.197118497 1 0.601574803 0.601574803 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.002185852 1 0.000000201 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 73868839 G C TRIM47 CCDS32737.1 r.? - - downstream 33 0 0 35 0 0 12 3 25 62 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.509009956 1.509009956 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.0000266 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 9423340 C T - - - - - - 25 0 0 18 3 16.7 30 5 16.7 35 17 48.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 0.818250737 0.818250737 1 1.044708661 1.044708661 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000964 1 0.000000401 1 3.18E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 19121145 A T - - - - - - 25 0 0 33 4 12.1 39 5 12.8 61 11 18 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 0.755162242 0.755162242 1 0.566929134 0.566929134 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 0.00000156 1 1.62E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 11405365 T C - - - - - - 35 0 0 24 3 12.5 43 6 14 45 16 35.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 0.685958702 0.685958702 1 0.765259843 0.765259843 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000233853 1 8.13E-08 1 8.61E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 12944311 G C SEH1L CCDS45832.1 r.? - - upstream 28 0 0 35 5 14.3 24 6 25 41 21 51.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 1.224926254 1.224926254 1 1.100598425 1.100598425 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000895 1 1.95E-09 1 1.17E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 13693661 G C C18orf19 CCDS11866.1 r.? - - intronic 28 0 0 28 1 3.6 29 8 27.6 41 20 48.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.228705882 0.228705882 1 1.352318584 1.352318584 1 1.049007874 1.049007874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.130947004 1 1.53E-12 1 2.32E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 25026477 C T - - - - - - 35 0 0 19 3 15.8 29 7 24.1 45 23 51.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.003764706 1.003764706 1 1.180828909 1.180828909 1 1.098448819 1.098448819 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000114071 1 1.11E-10 1 4.42E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 34405021 T G KIAA1328 CCDS45855.1 r.? - - upstream 26 0 0 30 4 13.3 26 8 30.8 46 20 43.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.844941176 0.844941176 1 1.509109145 1.509109145 1 0.93507874 0.93507874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000154 1 5.63E-13 1 4.72E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 35154295 C A - - - - - - 25 0 0 33 3 9.1 7 4 57.1 39 24 61.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.578117647 0.578117647 1 2.797731563 2.797731563 1 1.322007874 1.322007874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000609557 1 2.16E-08 1 1.39E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 35666257 G A - - - - - - 33 0 0 26 1 3.8 21 4 19 43 18 41.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.241411765 0.241411765 1 0.930943953 0.930943953 1 0.900685039 0.900685039 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.122190858 1 0.00000349 1 2.06E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 37955586 C A - - - - - - 32 0 0 28 0 0 33 9 27.3 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.337619469 1.337619469 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 6.76E-14 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 38725296 G A - - - - - - 36 0 0 25 1 4 19 5 26.3 38 18 47.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.254117647 0.254117647 1 1.288622419 1.288622419 1 1.018913386 1.018913386 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.117779757 1 3.43E-08 1 1.16E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 40221965 C T - - - - - - 37 0 0 21 1 4.8 21 4 19 39 18 46.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.304941176 0.304941176 1 0.930943953 0.930943953 1 0.99311811 0.99311811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.099912572 1 0.00000349 1 2.15E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 42966580 C G - - - - - - 38 0 0 24 0 0 24 3 12.5 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.612463127 0.612463127 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000233853 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 50078206 G A DCC CCDS11952.1 r.? - - intronic 24 0 0 27 1 3.7 32 4 12.5 45 0 0 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.235058824 0.235058824 1 0.612463127 0.612463127 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.126579904 1 0.0000201 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 50841676 G A DCC CCDS11952.1 r.? - - intronic 37 0 0 27 3 11.1 28 8 28.6 49 26 53.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.705176471 0.705176471 1 1.401315634 1.401315634 1 1.141440945 1.141440945 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000334187 1 1.11E-12 1 7.78E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 54905431 C T - - - - - - 28 0 0 30 4 13.3 41 7 17.1 45 26 57.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.844941176 0.844941176 1 0.837849558 0.837849558 1 1.242472441 1.242472441 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000154 1 1.51E-09 1 3.32E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 64548719 C G - - - - - - 22 0 0 36 3 8.3 34 9 26.5 50 24 48 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.527294118 0.527294118 1 1.298421829 1.298421829 1 1.031811024 1.031811024 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000788827 1 9.15E-14 1 6.39E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 65325282 G T AC114689.1 ENST00000500778 r.? - - intronic 30 0 0 30 0 0 45 4 8.9 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.436073746 0.436073746 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000791 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 66590515 T C CCDC102B CCDS11996.2 r.? - - intronic 27 0 0 20 0 0 30 4 13.3 59 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.651660767 0.651660767 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000154 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 66837386 G A - - - - - - 23 0 0 31 3 9.7 30 4 13.3 43 24 55.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.616235294 0.616235294 1 0.651660767 0.651660767 1 1.199480315 1.199480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000505952 1 0.0000154 1 4.35E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 70134579 T C - - - - - - 21 1 4.8 3 0 0 19 8 42.1 37 9 24.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 2.062775811 2.062775811 1 0.522354331 0.522354331 1 NA NA 1 NA NA 1 NA NA 1 9 NA 0.099912572 1 1 1 2.81E-14 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 73314379 A G - - - - - - 37 0 0 28 4 14.3 31 9 29 45 23 51.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 1.420914454 1.420914454 1 1.098448819 1.098448819 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000116 1 3.57E-14 1 4.42E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 73377963 T C - - - - - - 30 0 0 24 2 8.3 40 7 17.5 53 21 39.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.527294118 0.527294118 1 0.857448378 0.857448378 1 0.851244094 0.851244094 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006413403 1 1.26E-09 1 1.3E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 3099992 G T GNA11 CCDS12103.1 r.? - - intronic 37 0 0 27 0 0 5 3 60 23 0 0 117 0 0 7 0 0 4 0 0 1 3 0 0 TRUE FALSE 0 0 1 2.939823009 2.939823009 1 0 0 1 0 0 1 0 NA 0 0 0 1 3 NA 1 1 1 1 0.00000124 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 12266542 C A ZNF625 CCDS12269.1 r.? - - intronic 29 0 0 35 2 5.7 29 4 13.8 91 19 20.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.476117647 0.476117647 1 0.676159292 0.676159292 1 0.895942111 0.895942111 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.013332991 1 0.0000134 1 2.46E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 20611550 G A ENSG00000231205 ENST00000502675 r.? - - upstream 28 0 0 35 1 2.9 41 6 14.6 89 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.242235294 0.242235294 1 0.715356932 0.715356932 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 0.16091139 1 6.05E-08 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 21472837 G C ZNF708 CCDS32980.1 r.? - - downstream 29 0 0 32 3 9.4 28 4 14.3 90 14 15.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.785176471 0.785176471 1 0.700657817 0.700657817 1 0.66874148 0.66874148 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000556213 1 0.0000116 1 3.87E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 22026850 T C ZNF43 ENST00000397148 r.? - - intronic 45 0 0 43 4 9.3 35 10 28.6 88 22 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.776823529 0.776823529 1 1.401315634 1.401315634 1 1.07170109 1.07170109 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000066 1 1.6E-15 1 5.27E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 22051271 T C - - - - - - 34 0 0 32 3 9.4 41 6 14.6 85 24 28.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.785176471 0.785176471 1 0.715356932 0.715356932 1 1.208878829 1.208878829 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000556213 1 6.05E-08 1 3.98E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 22676464 G C - - - - - - 38 0 0 43 1 2.3 40 8 20 69 10 14.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.192117647 0.192117647 1 0.979941003 0.979941003 1 0.621586632 0.621586632 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.193893409 1 2.61E-11 1 2.54E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 23497491 T A - - - - - - 36 0 0 35 3 8.6 42 5 11.9 84 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.718352941 0.718352941 1 0.583064897 0.583064897 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 7 NA 1 1 0.000725791 1 0.00000228 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 32076532 G A ENSG00000232700 ENST00000441786 r.? - - intronic 40 0 0 37 3 8.1 33 5 15.2 61 15 24.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.595588235 0.595588235 1 0.896755162 0.896755162 1 0.77480315 0.77480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000855237 1 0.00000066 1 1.73E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 36023822 G T GAPDHS CCDS12465.1 r.? - - upstream 25 0 0 36 1 2.8 33 8 24.2 66 18 27.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.233882353 0.233882353 1 1.085085523 1.085085523 1 0.936120267 0.936120267 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.165106833 1 4.85E-12 1 2.08E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 40112655 G C - - - - - - 35 0 0 30 0 0 57 6 10.5 71 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.47080157 0.8060022 0.58411946 0 0 1 NA NA 1 NA NA 0 NA NA 0 3 NA 1 1 1 1 0.000000456 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 59074376 C T MZF1 CCDS12988.1 r.1829g>a c.1268G>A p.R423H missense 23 0 0 3 1 33.3 4 1 25 40 21 52.5 171 0 0 5 2 40 12 4 33.3 4.64E-06 2 2 100 TRUE TRUE 2.448529412 2.448529412 1 1.452867707 1.452867707 1 1.238025024 1.238025024 1 2.941176471 2.941176471 1 1.935219785 1.935219785 1 2.358142902 2.358142902 1 9 12 1 1 0.014925125 0.000247509 0.019850499 0.0000003 5.72E-38 0.000025 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 47618596 T A ZC3H4 CCDS42582.1 r.? - - upstream 37 0 0 31 0 0 21 4 19 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.104179457 1.104179457 1 0 0 1 NA NA 1 NA NA 0 NA NA 0 3 NA 1 1 1 1 0.00000349 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 49979260 G T ALDH16A1 CCDS12766.1 r.? - - downstream 34 0 0 15 0 0 10 3 30 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.743441248 1.743441248 1 0 0 1 NA NA 1 NA NA 0 NA NA 0 3 NA 1 1 1 1 0.0000146 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 55943574 G T SHISA7 CCDS46193.1 r.? - - downstream 29 0 0 26 0 0 18 3 16.7 60 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.970515628 0.970515628 1 0 0 1 NA NA 1 NA NA 0 NA NA 0 3 NA 1 1 1 1 0.0000964 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 56165757 G T U2AF2 CCDS12933.1 r.342g>u c.? p.? 5'UTR variant 34 0 0 32 0 0 6 3 50 40 0 0 171 1 0.6 10 0 0 13 0 0 1 16 0 0 TRUE FALSE 0 0 1 2.905735413 2.905735413 1 0 0 1 0 0 1 0 NA 0 0 NA 0 3 NA 1 0.575627916 1 1 0.00000247 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 837240 C G - - - - - - 27 0 0 37 3 8.1 43 4 9.3 74 21 28.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.595588235 0.595588235 1 0.548672566 0.548672566 1 0.894488189 0.894488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000855237 1 0.000066 1 5.6E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 1511666 T C TPO CCDS1643.1 r.? - - intronic 24 0 0 28 3 10.7 28 6 21.4 53 16 30.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.786764706 0.786764706 1 1.262536873 1.262536873 1 0.951181102 0.951181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000372895 1 5.36E-09 1 1.9E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 4801217 G A - - - - - - 51 0 0 26 2 7.7 30 5 16.7 33 14 42.4 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 TRUE FALSE 0.566176471 0.566176471 1 0.985250737 0.985250737 1 0.911433071 0.911433071 1 NA NA 1 NA NA 1 0 NA 0 9 NA 1 1 0.007502227 1 0.000000401 1 4.57E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 5605858 T C - - - - - - 40 0 0 23 1 4.3 28 4 14.3 63 19 30.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.316176471 0.316176471 1 0.843657817 0.843657817 1 0.951181102 0.951181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.108890944 1 0.0000116 1 9.48E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 5993507 G T - - - - - - 40 0 0 32 0 0 38 4 10.5 60 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.619469027 0.619469027 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000403 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 7134358 C T RNF144A CCDS1657.1 r.? - - intronic 25 0 0 31 0 0 30 4 13.3 57 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.784660767 0.784660767 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000154 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 13104450 C A - - - - - - 33 0 0 42 2 4.8 37 10 27 81 25 30.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.352941176 0.352941176 1 1.592920354 1.592920354 1 0.973228346 0.973228346 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.018854633 1 3.01E-15 1 1.2E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 13422924 T C - - - - - - 30 0 0 27 1 3.7 43 10 23.3 40 14 35 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.272058824 0.272058824 1 1.374631268 1.374631268 1 1.102362205 1.102362205 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.126579904 1 1.61E-14 1 1.25E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 13652978 C A - - - - - - 30 0 0 33 4 12.1 39 6 15.4 64 20 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 0.908554572 0.908554572 1 0.982677165 0.982677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 4.43E-08 1 1.52E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 34702246 G C PARD3 CCDS7178.1 r.? - - intronic 28 0 0 25 0 0 35 7 20 36 0 0 154 0 0 253 0 0 254 15 5.9 6.31E-08 193 0 0 FALSE FALSE 0 0 1 1.179941003 1.179941003 1 0 NA 0 0 0 1 0.348082596 0.348082596 1 0 NA 0 NA NA 1 1 1 1 4.65E-10 5.9E-12 1 1 YES 0_0 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 2 17105702 G A - - - - - - 26 0 0 38 0 0 32 5 15.6 49 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.920353982 0.920353982 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000000562 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 23130724 C T - - - - - - 23 0 0 30 2 6.7 32 7 21.9 70 24 34.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.492647059 0.492647059 1 1.292035398 1.292035398 1 1.080314961 1.080314961 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009909649 1 2.36E-10 1 1.68E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 25159708 C T - - - - - - 28 0 0 32 4 12.5 30 8 26.7 68 30 44.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 1.575221239 1.575221239 1 1.388976378 1.388976378 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 2.07E-12 1 1.38E-50 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 31299780 T G GALNT14 CCDS1773.2 r.? - - intronic 33 0 0 27 4 14.8 35 11 31.4 57 21 36.8 0 0 NA 0 0 NA 0 0 NA 1 2 2 100 TRUE FALSE 1.088235294 1.088235294 1 1.852507375 1.852507375 1 1.159055118 1.159055118 1 NA NA 1 NA NA 1 3.149606299 3.149606299 1 9 NA 1 1 0.00001 1 1.82E-17 1 8.56E-34 0.000025 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 35341547 G C - - - - - - 45 0 0 22 1 4.5 39 11 28.2 76 27 35.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.330882353 0.330882353 1 1.663716814 1.663716814 1 1.118110236 1.118110236 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.104413009 1 7.2E-17 1 1.67E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 36994912 C A VIT CCDS33180.1 r.? - - intronic 31 0 0 34 3 8.8 29 7 24.1 60 16 26.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.647058824 0.647058824 1 1.421828909 1.421828909 1 0.840944882 0.840944882 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000666058 1 1.11E-10 1 1.86E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 40599277 A G SLC8A1 CCDS1806.1 r.? - - intronic 32 0 0 34 5 14.7 35 7 20 67 25 37.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.080882353 1.080882353 1 1.179941003 1.179941003 1 1.17480315 1.17480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000771 1 4.65E-10 1 4.07E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 41113445 C T - - - - - - 20 0 0 33 2 6.1 32 8 25 65 17 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.448529412 0.448529412 1 1.474926254 1.474926254 1 0.82519685 0.82519685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011909843 1 3.69E-12 1 1.14E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 19344792 T A - - - - - - 33 0 0 33 4 12.1 22 6 27.3 59 23 39 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 1.610619469 1.610619469 1 1.228346457 1.228346457 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 1.09E-09 1 1.45E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 48213174 G A - - - - - - 28 0 0 29 5 17.2 30 4 13.3 74 19 25.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.264705882 1.264705882 1 0.784660767 0.784660767 1 0.809448819 0.809448819 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000336 1 0.0000154 1 3.14E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 48770322 C T STON1 CCDS1841.1 r.? - - intronic 32 0 0 36 0 0 25 4 16 63 18 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.943952802 0.943952802 1 0.900787402 0.900787402 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 0.00000727 1 7.98E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 49798323 T C - - - - - - 28 0 0 37 3 8.1 40 6 15 64 21 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.595588235 0.595588235 1 0.884955752 0.884955752 1 1.033070866 1.033070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000855237 1 5.18E-08 1 1.6E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 49850490 C G - - - - - - 36 0 0 40 1 2.5 34 8 23.5 72 18 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.183823529 0.183823529 1 1.386430678 1.386430678 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.181679879 1 6.32E-12 1 1.22E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 50173078 C G NRXN1 CCDS46282.1 r.? - - intronic 30 0 0 34 0 0 44 4 9.1 58 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.536873156 0.536873156 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000723 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 50925487 C A NRXN1 CCDS46282.1 r.? - - intronic 33 0 0 24 0 0 34 4 11.8 54 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.696165192 0.696165192 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000257 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 51101541 C G NRXN1 CCDS46282.1 r.? - - intronic 27 0 0 28 2 7.1 40 4 10 56 15 26.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.522058824 0.522058824 1 0.589970501 0.589970501 1 0.844094488 0.844094488 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.008668191 1 0.0000495 1 4.09E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 52550852 A T - - - - - - 23 0 0 28 2 7.1 35 8 22.9 56 15 26.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.522058824 0.522058824 1 1.351032448 1.351032448 1 0.844094488 0.844094488 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.008668191 1 8.15E-12 1 4.09E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 57411621 G A - - - - - - 30 0 0 26 3 11.5 31 6 19.4 67 26 38.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.845588235 0.845588235 1 1.144542773 1.144542773 1 1.222047244 1.222047244 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000298167 1 1.03E-08 1 3.31E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 63549172 G C C2orf86 CCDS42688.1 r.? - - intronic 32 0 0 25 2 8 30 4 13.3 60 17 28.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.588235294 0.588235294 1 0.784660767 0.784660767 1 0.891338583 0.891338583 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006948068 1 0.0000154 1 2.41E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 64636020 C G - - - - - - 34 0 0 38 1 2.6 42 6 14.3 81 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.191176471 0.191176471 1 0.843657817 0.843657817 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.173434892 1 7.02E-08 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 67181265 G A - - - - - - 40 0 0 22 3 13.6 29 8 27.6 91 32 35.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1 1 1 1.628318584 1.628318584 1 1.108661417 1.108661417 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000179267 1 1.53E-12 1 6.48E-50 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 76339844 G A - - - - - - 33 0 0 32 3 9.4 32 5 15.6 64 29 45.3 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.691176471 0.691176471 1 0.920353982 0.920353982 1 1.426771654 1.426771654 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000556213 1 0.000000562 1 2.18E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 77043477 C A LRRTM4 CCDS46346.1 r.? - - intronic 30 0 0 38 5 13.2 42 8 19 67 23 34.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.970588235 0.970588235 1 1.120943953 1.120943953 1 1.080314961 1.080314961 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000137 1 3.96E-11 1 5.12E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 77043478 C A LRRTM4 CCDS46346.1 r.? - - intronic 30 0 0 38 5 13.2 42 8 19 65 23 35.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.970588235 0.970588235 1 1.120943953 1.120943953 1 1.11496063 1.11496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000137 1 3.96E-11 1 2.21E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 77602716 C T LRRTM4 CCDS46346.1 r.? - - intronic 27 0 0 32 3 9.4 34 8 23.5 52 15 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.691176471 0.691176471 1 1.386430678 1.386430678 1 0.907086614 0.907086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000556213 1 6.32E-12 1 1.15E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 77902573 C T - - - - - - 40 0 0 37 4 10.8 42 8 19 52 15 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 1.120943953 1.120943953 1 0.907086614 0.907086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000362 1 3.96E-11 1 1.15E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 78192330 T G - - - - - - 36 0 0 33 0 0 37 4 10.8 51 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.637168142 0.637168142 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000362 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 78679267 C T - - - - - - 35 0 0 28 0 0 40 6 15 46 11 23.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.884955752 0.884955752 1 0.752755906 0.752755906 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 5.18E-08 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 78972992 G C - - - - - - 29 0 0 27 0 0 19 3 15.8 51 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.932153392 0.932153392 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000114071 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 79405732 T A - - - - - - 24 0 0 38 3 7.9 45 5 11.1 70 25 35.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.580882353 0.580882353 1 0.654867257 0.654867257 1 1.124409449 1.124409449 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000925091 1 0.00000323 1 1.55E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 81235272 T A - - - - - - 30 0 0 26 3 11.5 41 8 19.5 56 20 35.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.845588235 0.845588235 1 1.150442478 1.150442478 1 1.124409449 1.124409449 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000298167 1 3.22E-11 1 6.31E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 82075182 G A - - - - - - 33 0 0 33 1 3 45 14 31.1 68 12 17.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.220588235 0.220588235 1 1.83480826 1.83480826 1 0.554330709 0.554330709 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.15245715 1 8.81E-22 1 1.37E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 82099380 G A - - - - - - 32 0 0 19 3 15.8 42 6 14.3 71 17 23.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.161764706 1.161764706 1 0.843657817 0.843657817 1 0.752755906 0.752755906 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000114071 1 7.02E-08 1 6.12E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 84856084 G A DNAH6 CCDS46348.1 r.? - - intronic 30 0 0 34 2 5.9 31 5 16.1 66 25 37.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.433823529 0.433823529 1 0.949852507 0.949852507 1 1.193700787 1.193700787 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.012612579 1 0.000000476 1 2.57E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 87414909 T A - - - - - - 10 0 0 19 1 5.3 17 6 35.3 16 10 62.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.389705882 0.389705882 1 2.08259587 2.08259587 1 1.968503937 1.968503937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.090843738 1 1.84E-10 1 7.61E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 91699710 G A - - - - - - 15 0 0 23 0 0 10 3 30 31 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.769911504 1.769911504 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000146 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 92079015 A G - - - - - - 37 0 0 56 5 8.9 45 5 11.1 95 5 5.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.654411765 0.654411765 1 0.654867257 0.654867257 1 0.166929134 0.166929134 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.00000965 1 0.00000323 1 0.000124602 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 95532149 T G - - - - - - 33 0 0 36 0 0 39 5 12.8 72 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.755162242 0.755162242 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000156 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 95654172 G A - - - - - - 28 0 0 31 3 9.7 33 6 18.2 59 16 27.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.713235294 0.713235294 1 1.073746313 1.073746313 1 0.853543307 0.853543307 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000505952 1 1.54E-08 1 1.37E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 98814928 C A VWA3B CCDS42718.1 r.? - - intronic 24 0 0 29 2 6.9 43 9 20.9 74 24 32.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.507352941 0.507352941 1 1.233038348 1.233038348 1 1.020472441 1.020472441 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009279585 1 9.45E-13 1 8.21E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 99473906 A G C2orf55 CCDS42720.1 r.? - - intronic 27 0 0 31 4 12.9 38 7 18.4 62 22 35.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.948529412 0.948529412 1 1.085545723 1.085545723 1 1.118110236 1.118110236 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000177 1 8.61E-10 1 6.75E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 100512746 A C AFF3 CCDS42723.1 r.? - - intronic 39 0 0 28 0 0 34 3 8.8 55 0 0 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.519174041 0.519174041 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000666058 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 100868709 T A - - - - - - 28 0 0 28 1 3.6 31 3 9.7 53 2 3.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.264705882 0.264705882 1 0.572271386 0.572271386 1 0.119685039 0.119685039 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.130947004 1 0.000505952 1 0.029108399 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 104297428 C A - - - - - - 28 0 0 28 1 3.6 36 8 22.2 52 13 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.264705882 0.264705882 1 1.309734513 1.309734513 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.130947004 1 1.04E-11 1 6.47E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 104513706 G A - - - - - - 21 0 0 37 3 8.1 49 9 18.4 75 24 32 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.595588235 0.595588235 1 1.085545723 1.085545723 1 1.007874016 1.007874016 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000855237 1 3.35E-12 1 1.2E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 105008242 T A - - - - - - 15 0 0 20 2 10 48 6 12.5 47 10 21.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 0.737463127 0.737463127 1 0.670866142 0.670866142 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.004473894 1 0.00000016 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 105399571 A T - - - - - - 35 0 0 35 5 14.3 22 5 22.7 64 24 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 1.339233038 1.339233038 1 1.181102362 1.181102362 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000895 1 7.67E-08 1 1.23E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 108071088 T A - - - - - - 28 0 0 26 0 0 50 4 8 57 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.471976401 0.471976401 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000119787 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 116037437 C T DPP10 CCDS46400.1 r.? - - intronic 22 0 0 32 2 6.2 23 4 17.4 53 15 28.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.455882353 0.455882353 1 1.026548673 1.026548673 1 0.891338583 0.891338583 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011224977 1 0.00000513 1 1.6E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 116058890 G T DPP10 CCDS46400.1 r.? - - intronic 26 0 0 22 1 4.5 28 7 25 60 17 28.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.330882353 0.330882353 1 1.474926254 1.474926254 1 0.891338583 0.891338583 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.104413009 1 8.44E-11 1 2.41E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 116286831 C T DPP10 CCDS46400.1 r.? - - intronic 26 0 0 41 4 9.8 27 6 22.2 58 18 31 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.720588235 0.720588235 1 1.309734513 1.309734513 1 0.976377953 0.976377953 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000546 1 4.23E-09 1 1.42E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 116442727 C T DPP10 CCDS46400.1 r.? - - intronic 23 0 0 31 1 3.2 38 6 15.8 68 16 23.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.235294118 0.235294118 1 0.932153392 0.932153392 1 0.74015748 0.74015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.143917729 1 3.76E-08 1 1.75E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 116862509 A C - - - - - - 35 0 0 32 1 3.1 36 4 11.1 56 0 0 0 0 NA 2 0 0 0 0 NA 1 0 0 NA TRUE FALSE 0.227941176 0.227941176 1 0.654867257 0.654867257 1 0 0 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.14819814 1 0.0000324 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 120091807 G T C2orf76 CCDS42739.1 r.? - - intronic 36 0 0 35 0 0 25 4 16 56 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.943952802 0.943952802 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000727 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 120219630 G T SCTR CCDS2127.1 r.? - - intronic 27 0 0 31 0 0 10 3 30 63 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.769911504 1.769911504 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000146 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 123528412 A G - - - - - - 38 0 0 28 3 10.7 38 8 21.1 60 18 30 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.786764706 0.786764706 1 1.244837758 1.244837758 1 0.94488189 0.94488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000372895 1 1.67E-11 1 2.89E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 124862156 C G CNTNAP5 CCDS46401.1 r.? - - intronic 23 0 0 43 1 2.3 36 7 19.4 76 24 31.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.169117647 0.169117647 1 1.144542773 1.144542773 1 0.995275591 0.995275591 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.193893409 1 5.74E-10 1 1.75E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 125336297 C T CNTNAP5 CCDS46401.1 r.? - - intronic 27 0 0 25 3 12 28 6 21.4 55 20 36.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.882352941 0.882352941 1 1.262536873 1.262536873 1 1.146456693 1.146456693 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00026475 1 5.36E-09 1 4.08E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 125573574 C G CNTNAP5 CCDS46401.1 r.? - - intronic 26 0 0 28 0 0 48 4 8.3 45 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.489675516 0.489675516 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000102016 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 126072622 A T - - - - - - 28 0 0 26 1 3.8 32 7 21.9 75 22 29.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.279411765 0.279411765 1 1.292035398 1.292035398 1 0.922834646 0.922834646 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.122190858 1 2.36E-10 1 9.55E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 126491766 T C - - - - - - 31 0 0 25 2 8 42 7 16.7 60 17 28.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.588235294 0.588235294 1 0.985250737 0.985250737 1 0.891338583 0.891338583 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006948068 1 1.81E-09 1 2.41E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 126693402 C T - - - - - - 26 0 0 26 2 7.7 41 12 29.3 67 16 23.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.566176471 0.566176471 1 1.728613569 1.728613569 1 0.752755906 0.752755906 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.007502227 1 1.69E-18 1 1.35E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 128014407 A T ERCC3 CCDS2144.1 r.? - - downstream 30 0 0 45 0 0 24 3 12.5 77 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.737463127 0.737463127 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000233853 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 130729295 A T - - - - - - 24 0 0 20 2 10 29 8 27.6 75 25 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 1.628318584 1.628318584 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.004473894 1 1.53E-12 1 1.23E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 132811042 G A - - - - - - 30 0 0 28 0 0 29 4 13.8 63 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.814159292 0.814159292 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000134 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 133639215 C T NCKAP5 CCDS46418.1 r.? - - intronic 28 0 0 33 3 9.1 28 6 21.4 52 22 42.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.669117647 0.669117647 1 1.262536873 1.262536873 1 1.332283465 1.332283465 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000609557 1 5.36E-09 1 5.59E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 135023012 C G MGAT5 CCDS2171.1 r.? - - intronic 32 0 0 36 2 5.6 38 8 21.1 70 26 37.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.411764706 0.411764706 1 1.244837758 1.244837758 1 1.168503937 1.168503937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.014070883 1 1.67E-11 1 1.35E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 136400392 G C R3HDM1 CCDS2177.1 r.? - - intronic 28 0 0 32 4 12.5 49 14 28.6 68 28 41.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 1.687315634 1.687315634 1 1.297637795 1.297637795 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 3.5E-21 1 3.06E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 137492315 G A - - - - - - 31 0 0 31 2 6.5 36 4 11.1 63 15 23.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.477941176 0.477941176 1 0.654867257 0.654867257 1 0.749606299 0.749606299 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.010558179 1 0.0000324 1 2.97E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 138350254 T A THSD7B ENST00000409968 r.? - - intronic 32 0 0 32 3 9.4 42 8 19 66 19 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.691176471 0.691176471 1 1.120943953 1.120943953 1 0.907086614 0.907086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000556213 1 3.96E-11 1 2.64E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 140138681 G T - - - - - - 48 0 0 39 5 12.8 37 5 13.5 63 26 41.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.941176471 0.941176471 1 0.796460177 0.796460177 1 1.300787402 1.300787402 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000156 1 0.00000119 1 4.45E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 140596106 T C - - - - - - 38 0 0 30 3 10 32 5 15.6 72 20 27.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 0.920353982 0.920353982 1 0.875590551 0.875590551 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000458697 1 0.000000562 1 2.32E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 29505874 T A CHN2 CCDS5420.1 r.? - - intronic 33 0 0 32 2 6.2 32 4 12.5 68 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.455882353 0.455882353 1 0.737463127 0.737463127 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.011224977 1 0.0000201 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 141330808 G T LRP1B CCDS2182.1 r.? - - intronic 44 0 0 38 3 7.9 40 7 17.5 46 13 28.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.580882353 0.580882353 1 1.032448378 1.032448378 1 0.891338583 0.891338583 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000925091 1 1.26E-09 1 1.07E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 141558764 C T LRP1B CCDS2182.1 r.? - - intronic 32 0 0 35 0 0 41 9 22 71 17 23.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.297935103 1.297935103 1 0.752755906 0.752755906 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 5.92E-13 1 6.12E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 142687631 A G LRP1B CCDS2182.1 r.? - - intronic 30 0 0 27 2 7.4 25 4 16 59 25 42.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.544117647 0.544117647 1 0.943952802 0.943952802 1 1.335433071 1.335433071 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00807567 1 0.00000727 1 7.66E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 143025385 C A - - - - - - 32 0 0 30 0 0 40 4 10 69 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.589970501 0.589970501 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000495 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 145174888 A C ZEB2 CCDS2186.1 r.? - - intronic 25 0 0 42 4 9.5 45 6 13.3 57 15 26.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.698529412 0.698529412 1 0.784660767 0.784660767 1 0.828346457 0.828346457 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000601 1 0.000000108 1 5.53E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 152012079 G T - - - - - - 26 0 0 31 0 0 49 8 16.3 63 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.961651917 0.961651917 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 1.47E-10 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 153966279 T G - - - - - - 24 0 0 24 2 8.3 37 9 24.3 64 20 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.610294118 0.610294118 1 1.433628319 1.433628319 1 0.982677165 0.982677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006413403 1 2.14E-13 1 1.52E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 155213885 G C GALNT13 CCDS2199.1 r.? - - intronic 39 0 0 21 2 9.5 49 7 14.3 62 17 27.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.698529412 0.698529412 1 0.843657817 0.843657817 1 0.862992126 0.862992126 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.004928472 1 5.58E-09 1 4.56E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 107264935 C T - - - - - - 31 0 0 31 4 12.9 33 5 15.2 37 0 0 117 0 0 119 2 1.7 149 18 12.1 2.02E-14 107 0 0 TRUE TRUE 0.819529412 0.819529412 1 0.744755162 0.744755162 1 0 0 1 0.108 0.108 1 0.592864307 0.592864307 1 0 0 1 7 3 1 1 0.0000177 0.119923038 0.00000066 1.44E-19 1 1 YES 1_0 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 2 159741208 A C - - - - - - 41 0 0 39 2 5.1 39 5 12.8 74 17 23 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.375 0.375 1 0.755162242 0.755162242 1 0.724409449 0.724409449 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.016387522 1 0.00000156 1 1.34E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 159819501 G C - - - - - - 16 0 0 33 2 6.1 33 9 27.3 51 17 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.448529412 0.448529412 1 1.610619469 1.610619469 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011909843 1 6.76E-14 1 9.59E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 160485920 G C - - - - - - 30 0 0 30 4 13.3 34 4 11.8 58 12 20.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.977941176 0.977941176 1 0.696165192 0.696165192 1 0.651968504 0.651968504 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000154 1 0.0000257 1 1.76E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 160898736 G A PLA2R1 CCDS33309.1 r.? - - intronic 39 0 0 41 4 9.8 47 13 27.7 68 18 26.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.720588235 0.720588235 1 1.634218289 1.634218289 1 0.834645669 0.834645669 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000546 1 1.47E-19 1 3.83E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 167033705 G A - - - - - - 38 0 0 34 2 5.9 35 6 17.1 56 16 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.433823529 0.433823529 1 1.008849558 1.008849558 1 0.900787402 0.900787402 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.012612579 1 2.24E-08 1 5.26E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 178124199 G T NFE2L2 CCDS42782.1 r.? - - intronic 30 0 0 37 0 0 42 4 9.5 77 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.560471976 0.560471976 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000601 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 182387761 T C ITGA4 CCDS42788.1 r.? - - intronic 32 0 0 39 2 5.1 34 5 14.7 51 20 39.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.375 0.375 1 0.867256637 0.867256637 1 1.234645669 1.234645669 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.016387522 1 0.000000771 1 6.38E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 184636342 G A - - - - - - 40 0 0 35 3 8.6 38 8 21.1 65 19 29.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.632352941 0.632352941 1 1.244837758 1.244837758 1 0.919685039 0.919685039 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000725791 1 1.67E-11 1 1.89E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 186328662 C A - - - - - - 36 0 0 32 5 15.6 25 6 24 56 14 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.147058824 1.147058824 1 1.415929204 1.415929204 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 2.55E-09 1 2.91E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 186441364 G A - - - - - - 31 0 0 29 2 6.9 41 7 17.1 60 21 35 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.507352941 0.507352941 1 1.008849558 1.008849558 1 1.102362205 1.102362205 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009279585 1 1.51E-09 1 3.16E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 186600795 C A FSIP2 ENST00000424728 r.? - - upstream 25 0 0 28 5 17.9 22 4 18.2 49 12 24.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.316176471 1.316176471 1 1.073746313 1.073746313 1 0.771653543 0.771653543 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000279 1 0.00000425 1 1.9E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 186845242 G A - - - - - - 34 0 0 30 2 6.7 37 9 24.3 64 21 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.492647059 0.492647059 1 1.433628319 1.433628319 1 1.033070866 1.033070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009909649 1 2.14E-13 1 1.6E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 187488840 G C ITGAV CCDS2292.1 r.? - - intronic 34 0 0 44 3 6.8 40 6 15 63 16 25.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.5 0.5 1 0.884955752 0.884955752 1 0.8 0.8 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00142027 1 5.18E-08 1 4.48E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 189578448 G A - - - - - - 28 0 0 29 3 10.3 31 4 12.9 64 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 0.761061947 0.761061947 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.000414371 1 0.0000177 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 194666276 G A - - - - - - 32 0 0 23 3 13 23 6 26.1 49 17 34.7 0 0 NA 1 0 0 0 0 NA 1 0 0 NA TRUE FALSE 0.955882353 0.955882353 1 1.539823009 1.539823009 1 1.092913386 1.092913386 1 0 0 1 NA NA 1 NA NA 1 9 NA 1 1 0.000205387 1 1.47E-09 1 4.26E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 205806645 G A PARD3B CCDS42806.1 r.? - - intronic 25 0 0 39 3 7.7 48 5 10.4 59 26 44.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.566176471 0.566176471 1 0.613569322 0.613569322 1 1.388976378 1.388976378 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000998458 1 0.00000447 1 5.03E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 206495197 A G - - - - - - 29 0 0 31 3 9.7 31 8 25.8 65 23 35.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.713235294 0.713235294 1 1.522123894 1.522123894 1 1.11496063 1.11496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000505952 1 2.78E-12 1 2.21E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 207044042 G A GPR1 CCDS2368.1 r.? - - intronic 24 0 0 46 5 10.9 25 7 28 55 12 21.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.801470588 0.801470588 1 1.651917404 1.651917404 1 0.686614173 0.686614173 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000361 1 3.47E-11 1 8.78E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 212386566 C A ERBB4 CCDS2394.1 r.? - - intronic 37 0 0 31 0 0 43 12 27.9 56 15 26.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.646017699 1.646017699 1 0.844094488 0.844094488 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 3.24E-18 1 4.09E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 212750248 T G ERBB4 CCDS2394.1 r.? - - intronic 40 0 0 38 1 2.6 29 3 10.3 60 16 26.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.191176471 0.191176471 1 0.607669617 0.607669617 1 0.840944882 0.840944882 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.173434892 1 0.000414371 1 1.86E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 216000289 G C ABCA12 CCDS33372.1 r.? - - intronic 34 0 0 34 2 5.9 40 7 17.5 69 21 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.433823529 0.433823529 1 1.032448378 1.032448378 1 0.957480315 0.957480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.012612579 1 1.26E-09 1 1.02E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 223449454 G A FARSB CCDS2454.1 r.? - - intronic 23 0 0 28 3 10.7 5 3 60 60 20 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.786764706 0.786764706 1 3.539823009 3.539823009 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000372895 1 0.00000124 1 3.3E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 227935497 C T COL4A4 CCDS42828.1 r.? - - intronic 16 0 0 16 2 12.5 30 5 16.7 49 17 34.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 0.985250737 0.985250737 1 1.092913386 1.092913386 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.002863359 1 0.000000401 1 4.26E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 227999550 T C COL4A4 CCDS42828.1 r.? - - intronic 31 0 0 34 4 11.8 37 4 10.8 44 10 22.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.867647059 0.867647059 1 0.637168142 0.637168142 1 0.71496063 0.71496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 0.0000362 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 229533133 C T - - - - - - 36 0 0 32 3 9.4 38 6 15.8 80 23 28.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.691176471 0.691176471 1 0.932153392 0.932153392 1 0.903937008 0.903937008 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000556213 1 3.76E-08 1 6.19E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 57067026 A C - - - - - - 13 0 0 23 4 17.4 14 0 0 21 2 9.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.279411765 1.279411765 1 0 0 1 0.299212598 0.299212598 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000513 1 1 1 0.004928472 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 233902903 G A NEU2 CCDS2501.1 r.? - - downstream 38 0 0 27 4 14.8 32 7 21.9 54 17 31.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.088235294 1.088235294 1 1.292035398 1.292035398 1 0.992125984 0.992125984 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00001 1 2.36E-10 1 3.02E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 235490821 G A - - - - - - 26 0 0 35 1 2.9 43 7 16.3 67 18 26.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.213235294 0.213235294 1 0.961651917 0.961651917 1 0.847244094 0.847244094 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.16091139 1 2.15E-09 1 2.83E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 236282387 T C - - - - - - 22 0 0 19 2 10.5 28 5 17.9 48 20 41.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.772058824 0.772058824 1 1.056047198 1.056047198 1 1.313385827 1.313385827 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.004039874 1 0.000000279 1 1.4E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 1060894 A G - - - - - - 29 0 0 25 1 4 34 7 20.6 77 24 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.294117647 0.294117647 1 0.862605962 0.862605962 1 0.982677165 0.982677165 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.117779757 1 3.73E-10 1 2.53E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 4951550 T G SLC23A2 CCDS13085.1 r.128a>c c.? p.? 5'UTR variant 28 0 0 30 0 0 45 8 17.8 90 20 22.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.158196104 1.158196104 1 0.921212598 0.921212598 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 7.14E-11 1 3.48E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 57067043 T C - - - - - - 13 0 0 19 4 21.1 14 0 0 20 2 10 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.551470588 1.551470588 1 0 0 1 0.31496063 0.31496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000228 1 1 1 0.004473894 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 12288096 T C - - - - - - 31 0 0 41 2 4.9 49 6 12.2 88 0 0 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.398699845 0.398699845 1 0.793819801 0.793819801 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.018015855 1 0.000000182 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 12453260 T G - - - - - - 31 0 0 42 3 7.1 38 7 18.4 86 19 22.1 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 0.577707939 0.577707939 1 1.197236422 1.197236422 1 0.917062992 0.917062992 1 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 0.001240292 1 8.61E-10 1 7.57E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 74072129 C G GTF2I CCDS5573.1 r.119c>g c.? p.? 5'UTR variant 24 0 0 5 0 0 1 0 0 33 12 36.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 1.146456693 1.146456693 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 1 1 7.86E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 13970465 T C SEL1L2 CCDS42852.1 r.? - - intronic 21 0 0 36 3 8.3 35 4 11.4 81 22 27.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.675348717 0.675348717 1 0.741766044 0.741766044 1 1.128692913 1.128692913 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000788827 1 0.0000289 1 6.68E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 14363397 A C MACROD2 CCDS13120.2 r.? - - intronic 31 0 0 37 2 5.4 28 4 14.3 81 16 19.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.439383503 0.439383503 1 0.930460915 0.930460915 1 0.821622047 0.821622047 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.014826063 1 0.0000116 1 3.77E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 14995111 T C MACROD2 CCDS13120.2 r.? - - intronic 37 0 0 44 0 0 47 5 10.6 86 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.689712286 0.689712286 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000402 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 15094069 A C MACROD2 CCDS13120.2 r.? - - intronic 36 0 0 41 3 7.3 34 3 8.8 89 21 23.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.593981402 0.593981402 1 0.572591332 0.572591332 1 0.979307087 0.979307087 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001155993 1 0.000666058 1 4.49E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 22232659 C T - - - - - - 32 0 0 29 2 6.9 40 5 12.5 98 17 17.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.561434475 0.561434475 1 0.81333996 0.81333996 1 0.71788189 0.71788189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009279585 1 0.00000178 1 2.38E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 22628242 C T - - - - - - 30 0 0 39 1 2.6 53 7 13.2 78 19 24.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.21155502 0.21155502 1 0.858886998 0.858886998 1 1.012503937 1.012503937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.177567718 1 9.85E-09 1 9.67E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 23601660 C T - - - - - - 28 0 0 29 3 10.3 17 4 23.5 65 22 33.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.813949854 0.813949854 1 1.262822715 1.262822715 1 1.064566929 1.064566929 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000414371 1 0.00000141 1 2.36E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 30096036 C T - - - - - - 25 0 0 29 3 10.3 25 10 40 72 36 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.813949854 0.813949854 1 2.149485472 2.149485472 1 2.07480315 1.037401575 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000414371 1 2.98E-17 1 5.4E-63 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 31207849 G T - - - - - - 33 0 0 44 0 0 18 3 16.7 80 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.897410185 0.897410185 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.0000964 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 35363616 G A NDRG3 CCDS13285.1 r.? - - intronic 35 0 0 37 2 5.4 49 9 18.4 98 21 21.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.426730992 0.426730992 1 0.988763317 0.988763317 1 0.888015748 0.888015748 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.014826063 1 3.35E-12 1 4.19E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 37039035 C T - - - - - - 27 0 0 31 2 6.5 37 6 16.2 101 31 30.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.513657675 0.513657675 1 0.870541616 0.870541616 1 1.273929134 1.273929134 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.010558179 1 3.18E-08 1 3.17E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 37901960 A G - - - - - - 29 0 0 31 3 9.7 39 5 12.8 82 26 31.7 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.7665353 0.7665353 1 0.687835351 0.687835351 1 1.315425197 1.315425197 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000505952 1 0.00000156 1 1.89E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 40505923 C G - - - - - - 36 0 0 27 2 7.4 38 5 13.2 80 15 18.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.584779507 0.584779507 1 0.709330206 0.709330206 1 0.780125984 0.780125984 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.00807567 1 0.00000137 1 1.49E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 40833722 G A PTPRT CCDS42874.1 r.? - - intronic 18 0 0 16 1 6.2 38 14 36.8 65 31 47.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.489950398 0.489950398 1 1.977526634 1.977526634 1 1.979362205 0.989681102 2 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 0.077068876 1 5.28E-23 1 1.34E-53 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 41117330 C T PTPRT CCDS42874.1 r.? - - intronic 26 0 0 32 6 18.8 31 6 19.4 77 24 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.485656045 1.485656045 1 1.042500454 1.042500454 1 1.294677165 1.294677165 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.27E-08 1 1.03E-08 1 2.53E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 46129707 G A NCOA3 CCDS13406.1 r.? - - upstream 30 0 0 24 0 0 43 6 14 89 22 24.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.752319915 0.752319915 1 1.024952756 1.024952756 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1 1 8.13E-08 1 6.96E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 46130348 C A NCOA3 CCDS13406.1 r.? - - upstream 41 0 0 26 2 7.7 17 4 23.5 87 21 24.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.608486784 0.608486784 1 1.262822715 1.262822715 1 1.000055118 1.000055118 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.007502227 1 0.00000141 1 2.64E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 47228070 A C - - - - - - 26 0 0 26 2 7.7 32 4 12.5 74 17 23 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.608486784 0.608486784 1 0.67171421 0.67171421 1 0.954409449 0.954409449 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.007502227 1 0.0000201 1 1.34E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 47233235 G T - - - - - - 40 0 0 41 0 0 15 3 20 99 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.074742736 1.074742736 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.0000544 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 74373550 C T - - - - - - 22 0 0 25 4 16 10 0 0 63 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.176470588 1.176470588 1 0 0 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.00000727 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 48385657 C T - - - - - - 33 0 0 44 6 13.6 37 6 16.2 96 21 21.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.074729905 1.074729905 1 0.870541616 0.870541616 1 0.90876378 0.90876378 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 9.37E-08 1 3.18E-08 1 2.61E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 49398322 T C - - - - - - 40 0 0 25 2 8 45 7 15.6 106 32 30.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.632194062 0.632194062 1 0.838299334 0.838299334 1 1.253181102 1.253181102 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.006948068 1 0.000000003 1 2.14E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 50636998 C T - - - - - - 34 0 0 39 3 7.7 34 5 14.7 93 24 25.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.608486784 0.608486784 1 0.789935911 0.789935911 1 1.070598425 1.070598425 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000998458 1 0.000000771 1 4.66E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 50963502 G A - - - - - - 36 0 0 39 2 5.1 40 5 12.5 88 18 20.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.403023714 0.403023714 1 0.67171421 0.67171421 1 0.850669291 0.850669291 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.016387522 1 0.00000178 1 6.62E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 53591668 C T - - - - - - 29 0 0 46 2 4.3 52 10 19.2 85 18 21.2 1 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.339804308 0.339804308 1 1.031753027 1.031753027 1 0.879716535 0.879716535 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.022369545 1 1.28E-13 1 3.35E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 54452536 G A - - - - - - 41 0 0 30 0 0 39 7 17.9 76 16 21.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.961894749 0.961894749 1 0.875566929 0.875566929 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1 1 1.04E-09 1 1.25E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 56451375 G A - - - - - - 29 0 0 42 3 7.1 25 6 24 79 15 19 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.56107223 0.56107223 1 1.289691283 1.289691283 1 0.788425197 0.788425197 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.001240292 1 2.55E-09 1 1.22E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 56779172 G A - - - - - - 31 0 0 35 4 11.4 31 6 19.4 79 20 25.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.900876538 0.900876538 1 1.042500454 1.042500454 1 1.049850394 1.049850394 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000289 1 1.03E-08 1 1.91E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 57160799 C T - - - - - - 31 0 0 37 3 8.1 32 4 12.5 85 21 24.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.640096487 0.640096487 1 0.67171421 0.67171421 1 1.024952756 1.024952756 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000855237 1 0.0000201 1 1.53E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 59272199 A C ENSG00000237240 ENST00000456299 r.? - - intronic 31 0 0 46 0 0 36 4 11.1 82 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 NA 0 0.596482219 0.596482219 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.0000324 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 61731711 A G - - - - - - 21 0 0 12 2 16.7 9 3 33.3 68 25 36.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.319705104 1.319705104 1 1.789446656 1.789446656 1 1.527055118 0.763527559 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.001595918 1 0.0000103 1 6.41E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 9660815 C T - - - - - - 88 0 0 106 4 3.8 99 6 6.1 185 25 13.5 1 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.241411765 0.241411765 1 0.298882006 0.298882006 1 0.299437254 0.299437254 1 NA NA 1 NA NA 1 NA NA 1 4 NA 1 1 0.002070303 1 0.0000118 1 7.77E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 25610099 C T - - - - - - 31 0 0 37 1 2.7 45 6 13.3 73 0 0 191 1 0.5 404 26 6.4 509 48 9.4 7.34E-31 494 1 0.2 TRUE TRUE 0.225529412 0.225529412 1 0.917660767 0.917660767 1 0 0 1 0.534588235 0.534588235 1 0.648572271 0.648572271 1 0.008299213 0.008299213 1 3 7 1 0.616108565 0.169281299 1.53E-20 0.000000108 2.53E-44 1 0.91593758 YES 0_1 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 21 10891561 C T - - - - - - 86 0 0 64 2 3.1 75 6 8 131 16 12.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.196941176 0.196941176 1 0.391976401 0.391976401 1 0.270602555 0.270602555 1 NA NA 1 NA NA 1 NA NA 1 4 NA 1 1 0.041085601 1 0.00000234 1 1.23E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 10914303 G C TPTE CCDS33512.1 r.? - - intronic 78 0 0 79 2 2.5 87 5 5.7 135 17 12.6 3 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.158823529 0.158823529 1 0.279283186 0.279283186 1 0.27947477 0.27947477 1 NA NA 1 NA NA 1 NA NA 1 4 NA 1 1 0.059811146 1 0.0000821 1 7.05E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 21160512 A G - - - - - - 42 0 0 35 1 2.9 44 11 25 54 16 29.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.213235294 0.213235294 1 1.474926254 1.474926254 1 0.932283465 0.932283465 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.16091139 1 3.22E-16 1 2.69E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 23251422 T C - - - - - - 29 0 0 27 1 3.7 40 6 15 56 21 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.272058824 0.272058824 1 0.884955752 0.884955752 1 1.181102362 1.181102362 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.126579904 1 5.18E-08 1 5.43E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 23387988 C T - - - - - - 21 0 0 24 0 0 25 4 16 53 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.943952802 0.943952802 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000727 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 23623766 G T - - - - - - 23 0 0 39 4 10.3 24 6 25 69 18 26.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 1.474926254 1.474926254 1 0.822047244 0.822047244 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000447 1 1.95E-09 1 5.16E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 23892039 A T - - - - - - 29 0 0 28 2 7.1 29 8 27.6 56 17 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.522058824 0.522058824 1 1.628318584 1.628318584 1 0.957480315 0.957480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.008668191 1 1.53E-12 1 6.22E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 24004181 G A - - - - - - 32 0 0 30 3 10 38 7 18.4 71 17 23.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 1.085545723 1.085545723 1 0.752755906 0.752755906 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000458697 1 8.61E-10 1 6.12E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 26494617 T A - - - - - - 32 0 0 34 1 2.9 37 7 18.9 54 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.213235294 0.213235294 1 1.115044248 1.115044248 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.156694864 1 7.05E-10 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 27171543 G A AP001441.1 ENST00000509807 r.? - - intronic 42 0 0 31 3 9.7 36 7 19.4 79 24 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.713235294 0.713235294 1 1.144542773 1.144542773 1 0.957480315 0.957480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000505952 1 5.74E-10 1 5.2E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 85200319 C A - - - - - - 46 0 0 35 2 5.7 35 1 2.9 54 15 27.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.419117647 0.419117647 1 0.171091445 0.171091445 1 0.875590551 0.875590551 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.013332991 1 0.16091139 1 2.2E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 32364366 G A TIAM1 ENST00000461148 r.? - - intronic 27 0 0 33 0 0 27 4 14.8 67 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.873156342 0.873156342 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00001 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 35031227 C A ITSN1 CCDS33545.1 r.? - - intronic 23 0 0 29 4 13.8 27 5 18.5 90 26 28.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.014705882 1.014705882 1 1.091445428 1.091445428 1 0.91023622 0.91023622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000134 1 0.00000023 1 3.18E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 35037658 C G ITSN1 CCDS33545.1 r.? - - intronic 34 0 0 27 3 11.1 34 5 14.7 68 20 29.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.867256637 0.867256637 1 0.925984252 0.925984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000334187 1 0.000000771 1 6.23E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 35374842 G T - - - - - - 33 0 0 29 2 6.9 30 5 16.7 73 25 34.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.507352941 0.507352941 1 0.985250737 0.985250737 1 1.077165354 1.077165354 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009279585 1 0.000000401 1 5.49E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 37289315 C A - - - - - - 37 0 0 27 1 3.7 48 4 8.3 63 30 47.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.272058824 0.272058824 1 0.489675516 0.489675516 1 1.499212598 1.499212598 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.126579904 1 0.000102016 1 6.83E-52 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 39002042 G C KCNJ6 CCDS42927.1 r.? - - intronic 38 0 0 41 2 4.9 36 6 16.7 56 18 32.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.360294118 0.360294118 1 0.985250737 0.985250737 1 1.011023622 1.011023622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.018015855 1 2.68E-08 1 6.76E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 40706221 C T - - - - - - 41 1 2.4 40 9 22.5 19 6 31.6 67 29 43.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.654411765 1.654411765 1 1.864306785 1.864306785 1 1.363779528 1.363779528 1 NA NA 1 NA NA 1 NA NA 1 9 NA 0.18577148 1 4.64E-13 1 4.01E-10 1 1.22E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 41804548 T C DSCAM CCDS42929.1 r.? - - intronic 26 0 0 38 0 0 37 5 13.5 73 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.796460177 0.796460177 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000119 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 42393622 C T - - - - - - 27 0 0 31 2 6.5 44 9 20.5 68 20 29.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.477941176 0.477941176 1 1.209439528 1.209439528 1 0.925984252 0.925984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.010558179 1 1.18E-12 1 6.23E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 47115847 G A PCBP3 CCDS42974.2 r.? - - intronic 26 0 0 33 3 9.1 28 5 17.9 30 6 20 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.669117647 0.669117647 1 0.775340494 0.775340494 1 0.62992126 0.62992126 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000609557 1 0.000000279 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 88769267 G T ZNF804B CCDS5613.1 r.? - - intronic 30 0 0 32 4 12.5 49 10 20.4 62 21 33.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 1.203539823 1.203539823 1 1.067716535 1.067716535 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 6.72E-14 1 7.22E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 47999379 G A - - - - - - 30 0 0 39 3 7.7 33 4 12.1 67 19 28.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.566176471 0.566176471 1 0.524112848 0.524112848 1 0.894488189 0.894488189 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000998458 1 0.0000228 1 3.67E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 16312364 A T - - - - - - 66 0 0 50 3 6 71 6 8.5 126 15 11.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.441176471 0.441176471 1 0.331474926 0.331474926 1 0.37480315 0.37480315 1 NA NA 1 NA NA 0 NA NA 1 4 NA 1 1 0.002055544 1 0.00000169 1 1.87E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 17507037 A T - - - - - - 66 0 0 50 2 4 80 8 10 102 20 19.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.294117647 0.294117647 1 0.389970501 0.389970501 1 0.617322835 0.617322835 1 NA NA 1 NA NA 0 NA NA 1 5 NA 1 1 0.026131524 1 8.22E-09 1 5.36E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 24626463 T C GGT5 CCDS13825.1 r.? - - intronic 33 0 0 34 3 8.8 34 7 20.6 64 25 39.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.647058824 0.647058824 1 0.803339233 0.803339233 1 1.231496063 1.231496063 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000666058 1 3.73E-10 1 9.9E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 28661370 G T TTC28 CCDS46678.1 r.? - - intronic 38 0 0 42 0 0 42 4 9.5 48 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.370471976 0.370471976 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.0000601 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 28681709 G A TTC28 CCDS46678.1 r.? - - intronic 31 0 0 36 4 11.1 35 6 17.1 53 19 35.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.666849558 0.666849558 1 1.127559055 1.127559055 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000324 1 2.24E-08 1 1.93E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 28915964 G C TTC28 CCDS46678.1 r.? - - intronic 44 0 0 45 3 6.7 50 4 8 76 24 31.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.492647059 0.492647059 1 0.311976401 0.311976401 1 0.995275591 0.995275591 1 NA NA 1 NA NA 0 NA NA 1 6 NA 1 1 0.001516071 1 0.000119787 1 1.75E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 28979662 A T TTC28 CCDS46678.1 r.? - - intronic 34 0 0 37 0 0 47 8 17 65 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.662949853 0.662949853 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 1.03E-10 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 30432611 G C AC003681.2 ENST00000504478 r.? - - intronic 31 0 0 33 1 3 14 4 28.6 80 25 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.220588235 0.220588235 1 1.115315634 1.115315634 1 0.982677165 0.982677165 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.15245715 1 0.000000601 1 8.31E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 34162180 T A LARGE CCDS13912.1 r.? - - intronic 21 0 0 33 2 6.1 36 4 11.1 66 23 34.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.448529412 0.448529412 1 0.432867257 0.432867257 1 1.096062992 1.096062992 1 NA NA 1 NA NA 0 NA NA 1 6 NA 1 1 0.011909843 1 0.0000324 1 3.38E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 34326076 G A - - - - - - 26 0 0 30 3 10 40 8 20 60 27 45 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 0.779941003 0.779941003 1 1.417322835 1.417322835 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000458697 1 2.61E-11 1 5.59E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 40523164 C G TNRC6B CCDS46712.1 r.? - - intronic 35 0 0 21 2 9.5 34 10 29.4 59 22 37.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.698529412 0.698529412 1 1.146513274 1.146513274 1 1.17480315 1.17480315 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.004928472 1 1.15E-15 1 1.79E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 47207563 G A TBC1D22A CCDS14078.1 r.? - - intronic 37 0 0 36 3 8.3 8 4 50 76 32 42.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.610294118 0.610294118 1 1.949852507 1.949852507 1 1.325984252 1.325984252 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000788827 1 4.31E-08 1 5.07E-53 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 49003029 C T FAM19A5 CCDS46729.1 r.? - - intronic 28 0 0 23 0 0 10 3 30 57 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.169911504 1.169911504 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.0000146 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 49827267 G A - - - - - - 16 0 0 25 0 0 8 4 50 48 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.949852507 1.949852507 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 4.31E-08 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 49827269 C T - - - - - - 16 0 0 24 0 0 8 4 50 47 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.949852507 1.949852507 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 4.31E-08 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 860537 T C - - - - - - 31 0 0 22 2 9.1 37 6 16.2 43 23 53.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.578117647 0.578117647 1 0.793752212 0.793752212 1 1.15003937 1.15003937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.005403392 1 3.18E-08 1 1.04E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 1437544 T G CNTN6 CCDS2557.1 r.? - - intronic 21 0 0 29 2 6.9 32 6 18.8 39 21 53.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.438352941 0.438352941 1 0.921144543 0.921144543 1 1.156488189 1.156488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009279585 1 1.27E-08 1 2.73E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 2535958 G A CNTN4 CCDS43041.1 r.? - - intronic 34 0 0 31 2 6.5 31 5 16.1 54 26 48.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.412941176 0.412941176 1 0.788852507 0.788852507 1 1.03396063 1.03396063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.010558179 1 0.000000476 1 2.44E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 6074295 C A - - - - - - 36 0 0 28 3 10.7 25 10 40 50 21 42 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.679764706 0.679764706 1 1.959882006 1.959882006 1 0.902834646 0.902834646 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000372895 1 2.98E-17 1 2.79E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 6730272 A T - - - - - - 25 0 0 31 3 9.7 30 7 23.3 46 26 56.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.616235294 0.616235294 1 1.141631268 1.141631268 1 1.214527559 1.214527559 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000505952 1 1.44E-10 1 7.59E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 9019252 C T SRGAP3 CCDS33689.1 r.? - - downstream 39 0 0 24 1 4.2 23 9 39.1 50 26 52 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.266823529 0.266823529 1 1.915784661 1.915784661 1 1.117795276 1.117795276 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.113346489 1 1.5E-15 1 1.61E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 9050386 G A SRGAP3 CCDS33689.1 r.? - - intronic 34 0 0 34 3 8.8 29 5 17.2 44 20 45.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.559058824 0.559058824 1 0.842749263 0.842749263 1 0.978070866 0.978070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000666058 1 0.000000336 1 1.5E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 17233849 A T TBC1D5 CCDS33714.1 r.? - - intronic 28 0 0 25 2 8 24 6 25 40 16 40 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.508235294 0.508235294 1 1.224926254 1.224926254 1 0.85984252 0.85984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006948068 1 1.95E-09 1 8.56E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 22829378 A T - - - - - - 29 0 0 24 1 4.2 38 7 18.4 38 16 42.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.266823529 0.266823529 1 0.901545723 0.901545723 1 0.904984252 0.904984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.113346489 1 8.61E-10 1 3.06E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 31253596 A G - - - - - - 29 0 0 20 1 5 33 9 27.3 39 20 51.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.317647059 0.317647059 1 1.337619469 1.337619469 1 1.102748031 1.102748031 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.09538952 1 6.76E-14 1 6E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 33799956 G A - - - - - - 27 0 0 24 2 8.3 22 6 27.3 43 23 53.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.527294118 0.527294118 1 1.337619469 1.337619469 1 1.15003937 1.15003937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006413403 1 1.09E-09 1 1.04E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 35456873 C T - - - - - - 27 0 0 25 1 4 30 7 23.3 53 25 47.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.254117647 0.254117647 1 1.141631268 1.141631268 1 1.014614173 1.014614173 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.117779757 1 1.44E-10 1 2.35E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 37438338 C T C3orf35 CCDS43065.1 r.? - - upstream 29 0 0 29 2 6.9 24 4 16.7 47 22 46.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.438352941 0.438352941 1 0.818250737 0.818250737 1 1.006015748 1.006015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009279585 1 0.00000613 1 3.14E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 39282160 C A - - - - - - 29 0 0 31 0 0 20 4 20 60 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.979941003 0.979941003 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000284 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 43979035 C G - - - - - - 28 0 0 43 2 4.7 36 4 11.1 52 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.298588235 0.298588235 1 0.543867257 0.543867257 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.019709573 1 0.0000324 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 44565806 C T - - - - - - 33 0 0 32 5 15.6 29 6 20.7 52 30 57.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.991058824 0.991058824 1 1.014238938 1.014238938 1 1.240322835 1.240322835 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000562 1 6.72E-09 1 2.26E-55 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 45241257 G A - - - - - - 28 0 0 30 4 13.3 33 6 18.2 45 28 62.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.844941176 0.844941176 1 0.891746313 0.891746313 1 1.337055118 1.337055118 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000154 1 1.54E-08 1 3.78E-53 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 56979597 C A ARHGEF3 CCDS46854.1 r.? - - intronic 23 0 0 29 0 0 12 3 25 45 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.224926254 1.224926254 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000266 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 61518886 C T - - - - - - 28 0 0 26 2 7.7 23 4 17.4 45 25 55.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.489176471 0.489176471 1 0.852548673 0.852548673 1 1.195181102 1.195181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.007502227 1 0.00000513 1 8.58E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 64569031 A G ADAMTS9 CCDS2903.1 r.? - - intronic 30 0 0 29 3 10.3 43 8 18.6 46 21 45.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.654352941 0.654352941 1 0.911345133 0.911345133 1 0.982370079 0.982370079 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000414371 1 4.85E-11 1 2.94E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 66569785 C T - - - - - - 34 0 0 29 3 10.3 24 4 16.7 55 32 58.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.654352941 0.654352941 1 0.818250737 0.818250737 1 1.251070866 1.251070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000414371 1 0.00000613 1 3.89E-59 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 71589142 T A FOXP1 CCDS2914.1 r.? - - intronic 31 0 0 27 0 0 29 4 13.8 40 26 65 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.676159292 0.676159292 1 1.397244094 1.397244094 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 0.0000134 1 3.23E-50 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 73941094 T A - - - - - - 29 0 0 26 3 11.5 37 11 29.7 38 23 60.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.730588235 0.730588235 1 1.455212389 1.455212389 1 1.300511811 1.300511811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000298167 1 3.7E-17 1 1.72E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 75417270 T G - - - - - - 29 0 0 27 1 3.7 33 4 12.1 41 3 7.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.235058824 0.235058824 1 0.592864307 0.592864307 1 0.15692126 0.15692126 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.126579904 1 0.0000228 1 0.001155993 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 75625318 G C - - - - - - 34 0 0 36 0 0 22 4 18.2 52 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.891746313 0.891746313 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000425 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 77790942 G C - - - - - - 24 0 0 32 2 6.2 41 9 22 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.393882353 0.393882353 1 1.077935103 1.077935103 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.011224977 1 5.92E-13 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 82347006 T G - - - - - - 25 0 0 18 2 11.1 14 4 28.6 36 13 36.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.705176471 0.705176471 1 1.401315634 1.401315634 1 0.776007874 0.776007874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.003626632 1 0.000000601 1 2.53E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 84794418 A T - - - - - - 24 0 0 30 1 3.3 29 4 13.8 47 17 36.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.209647059 0.209647059 1 0.676159292 0.676159292 1 0.77815748 0.77815748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.139615808 1 0.0000134 1 1.81E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 88791513 C T - - - - - - 28 0 0 23 1 4.3 33 4 12.1 41 19 46.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.273176471 0.273176471 1 0.592864307 0.592864307 1 0.995267717 0.995267717 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.108890944 1 0.0000228 1 4.2E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 90202372 G A - - - - - - 28 0 0 22 1 4.5 21 4 19 44 17 38.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.330882353 0.330882353 1 1.120943953 1.120943953 1 1.215748031 1.215748031 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.104413009 1 0.00000349 1 4.61E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 90295818 T A - - - - - - 32 0 0 32 0 0 28 3 10.7 55 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.631268437 0.631268437 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000372895 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 95196000 C T - - - - - - 25 0 0 21 3 14.3 42 5 11.9 56 20 35.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 0.702064897 0.702064897 1 1.124409449 1.124409449 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000155401 1 0.00000228 1 6.31E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 95951476 A T - - - - - - 32 0 0 28 3 10.7 38 5 13.2 55 17 30.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.786764706 0.786764706 1 0.778761062 0.778761062 1 0.973228346 0.973228346 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000372895 1 0.00000137 1 4.35E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 30898772 G T DCDC5 ENST00000429306 r.? - - intronic 21 0 0 37 0 0 50 5 10 83 0 0 259 0 0 133 0 0 203 5 2.5 0.054480195 174 1 0.6 TRUE TRUE 0 0 1 0.689970501 0.689970501 1 0 0 1 0 0 1 0.172492625 0.172492625 1 0.024897638 0.024897638 1 3 3 1 1 1 1 0.00000549 0.003775979 1 0.581961722 YES 0_0 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 3 104110740 A G - - - - - - 37 0 0 37 3 8.1 41 6 14.6 72 27 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.595588235 0.595588235 1 0.861356932 0.861356932 1 1.181102362 1.181102362 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000855237 1 6.05E-08 1 2.82E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 104238657 G A - - - - - - 32 0 0 34 3 8.8 38 11 28.9 69 20 29 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.647058824 0.647058824 1 1.705014749 1.705014749 1 0.913385827 0.913385827 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000666058 1 5.19E-17 1 8.73E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 104804355 G T - - - - - - 28 0 0 46 0 0 48 4 8.3 81 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.489675516 0.489675516 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000102016 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 107006833 C T - - - - - - 29 0 0 26 3 11.5 48 7 14.6 63 24 38.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.845588235 0.845588235 1 0.861356932 0.861356932 1 1.2 1.2 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000298167 1 4.81E-09 1 7.74E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 107317615 T C BBX CCDS2950.1 r.? - - intronic 27 0 0 36 3 8.3 48 7 14.6 79 30 38 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.610294118 0.610294118 1 0.861356932 0.861356932 1 1.196850394 1.196850394 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000788827 1 4.81E-09 1 4.07E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 107665145 C A - - - - - - 32 0 0 34 3 8.8 33 7 21.2 60 17 28.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.647058824 0.647058824 1 1.250737463 1.250737463 1 0.891338583 0.891338583 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000666058 1 2.98E-10 1 2.41E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 108335333 T C DZIP3 CCDS2952.1 r.? - - intronic 32 0 0 21 1 4.8 31 6 19.4 53 19 35.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.352941176 0.352941176 1 1.144542773 1.144542773 1 1.127559055 1.127559055 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.099912572 1 1.03E-08 1 1.93E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 108614229 T C - - - - - - 30 0 0 37 4 10.8 32 5 15.6 68 29 42.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 0.920353982 0.920353982 1 1.341732283 1.341732283 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000362 1 0.000000562 1 2.12E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 108794418 C A MORC1 CCDS2955.1 r.? - - intronic 38 0 0 33 0 0 37 4 10.8 76 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.637168142 0.637168142 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000362 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 109748596 G A - - - - - - 26 0 0 36 3 8.3 50 7 14 68 23 33.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.610294118 0.610294118 1 0.825958702 0.825958702 1 1.064566929 1.064566929 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000788827 1 6.46E-09 1 7.7E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 109778941 T A - - - - - - 42 0 0 29 5 17.2 43 4 9.3 64 20 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.264705882 1.264705882 1 0.548672566 0.548672566 1 0.982677165 0.982677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000336 1 0.000066 1 1.52E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 110313692 G T - - - - - - 39 0 0 26 2 7.7 31 4 12.9 62 29 46.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.566176471 0.566176471 1 0.761061947 0.761061947 1 1.474015748 1.474015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.007502227 1 0.0000177 1 6.51E-50 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 110826614 T G PVRL3 CCDS2957.1 r.? - - intronic 24 0 0 31 0 0 39 5 12.8 65 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.755162242 0.755162242 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000156 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 113715343 C G KIAA1407 CCDS2977.1 r.? - - intronic 31 0 0 36 1 2.8 40 8 20 59 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.205882353 0.205882353 1 1.179941003 1.179941003 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.165106833 1 2.61E-11 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 116704231 G A LSAMP ENST00000474851 r.? - - intronic 29 0 0 35 3 8.6 34 4 11.8 68 21 30.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.632352941 0.632352941 1 0.696165192 0.696165192 1 0.973228346 0.973228346 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000725791 1 0.0000257 1 7.15E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 117665009 G A - - - - - - 34 0 0 43 1 2.3 35 6 17.1 66 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.169117647 0.169117647 1 1.008849558 1.008849558 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.193893409 1 2.24E-08 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 117754831 G A - - - - - - 35 0 0 33 4 12.1 41 9 22 70 22 31.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 1.297935103 1.297935103 1 0.988976378 0.988976378 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 5.92E-13 1 1.63E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 118377253 C A - - - - - - 33 0 0 32 1 3.1 33 5 15.2 70 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.227941176 0.227941176 1 0.896755162 0.896755162 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.14819814 1 0.00000066 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 118975540 G C - - - - - - 25 1 4 39 3 7.7 54 12 22.2 72 22 30.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.566176471 0.566176471 1 1.309734513 1.309734513 1 0.963779528 0.963779528 1 NA NA 1 NA NA 1 NA NA 1 9 NA 0.117779757 1 0.000998458 1 6.9E-17 1 3.36E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 119821301 G C - - - - - - 25 0 0 34 2 5.9 32 5 15.6 64 20 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.433823529 0.433823529 1 0.920353982 0.920353982 1 0.982677165 0.982677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.012612579 1 0.000000562 1 1.52E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 120741441 C A STXBP5L CCDS43137.1 r.? - - intronic 35 0 0 39 2 5.1 40 8 20 83 24 28.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.375 0.375 1 1.179941003 1.179941003 1 0.91023622 0.91023622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.016387522 1 2.61E-11 1 2.06E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 123555916 C T MYLK CCDS3023.1 r.? - - intronic 29 0 0 33 3 9.1 34 5 14.7 72 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.669117647 0.669117647 1 0.867256637 0.867256637 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.000609557 1 0.000000771 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 131653140 G C CPNE4 CCDS3072.1 r.? - - intronic 19 0 0 23 1 4.3 40 9 22.5 56 12 21.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.316176471 0.316176471 1 1.327433628 1.327433628 1 0.674015748 0.674015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.108890944 1 4.64E-13 1 1.11E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 137399885 G A - - - - - - 22 0 0 28 2 7.1 41 13 31.7 57 20 35.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.522058824 0.522058824 1 1.87020649 1.87020649 1 1.105511811 1.105511811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.008668191 1 1.89E-20 1 9.67E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 138826215 G T MRPS22 CCDS3107.1 r.? - - intronic 26 0 0 33 0 0 24 5 20.8 67 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.227138643 1.227138643 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000000123 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 139629202 C A - - - - - - 26 0 0 31 2 6.5 26 6 23.1 57 20 35.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.477941176 0.477941176 1 1.362831858 1.362831858 1 1.105511811 1.105511811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.010558179 1 3.3E-09 1 9.67E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 139830683 C T CLSTN2 CCDS3112.1 r.? - - intronic 36 0 0 25 4 16 33 6 18.2 72 25 34.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.176470588 1.176470588 1 1.073746313 1.073746313 1 1.092913386 1.092913386 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000727 1 1.54E-08 1 3.63E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 140860896 G T SPSB4 CCDS3115.1 r.? - - intronic 29 0 0 35 1 2.9 31 4 12.9 60 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.213235294 0.213235294 1 0.761061947 0.761061947 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.16091139 1 0.0000177 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 141736816 C A TFDP2 CCDS43159.1 r.? - - intronic 31 0 0 39 0 0 15 3 20 83 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.179941003 1.179941003 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000544 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 143660550 G C - - - - - - 30 0 0 37 3 8.1 57 9 15.8 70 17 24.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.595588235 0.595588235 1 0.932153392 0.932153392 1 0.765354331 0.765354331 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000855237 1 1.42E-11 1 4.68E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 144486370 C T - - - - - - 38 0 0 42 3 7.1 43 10 23.3 60 23 38.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.522058824 0.522058824 1 1.374631268 1.374631268 1 1.206299213 1.206299213 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001240292 1 1.61E-14 1 2.33E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 146102284 T G - - - - - - 24 0 0 23 5 21.7 47 5 10.6 74 21 28.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.595588235 1.595588235 1 0.625368732 0.625368732 1 0.894488189 0.894488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.75E-08 1 0.00000402 1 5.6E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 146327726 C G PLSCR5 CCDS46931.1 r.? - - upstream 29 0 0 30 5 16.7 36 9 25 58 18 31 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 1.474926254 1.474926254 1 0.976377953 0.976377953 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 1.63E-13 1 1.42E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 147126085 C G ZIC1 CCDS3136.1 r.? - - upstream 36 0 0 41 4 9.8 33 5 15.2 63 22 34.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.720588235 0.720588235 1 0.896755162 0.896755162 1 1.099212598 1.099212598 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000546 1 0.00000066 1 1.03E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 147650629 A G - - - - - - 38 0 0 32 1 3.1 41 6 14.6 62 17 27.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.227941176 0.227941176 1 0.861356932 0.861356932 1 0.862992126 0.862992126 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.14819814 1 6.05E-08 1 4.56E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 147717011 T C - - - - - - 33 0 0 38 3 7.9 34 7 20.6 53 18 34 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.580882353 0.580882353 1 1.215339233 1.215339233 1 1.070866142 1.070866142 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000925091 1 3.73E-10 1 2.09E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 148796367 G A HLTF CCDS33875.1 r.? - - intronic 31 0 0 24 1 4.2 11 4 36.4 61 16 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.308823529 0.308823529 1 2.147492625 2.147492625 1 0.82519685 0.82519685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.113346489 1 0.000000201 1 2.5E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 150814658 G A MED12L CCDS33876.1 r.? - - intronic 28 0 0 25 3 12 30 7 23.3 66 25 37.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.882352941 0.882352941 1 1.374631268 1.374631268 1 1.193700787 1.193700787 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00026475 1 1.44E-10 1 2.57E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 152947396 C T - - - - - - 19 0 0 37 3 8.1 35 4 11.4 65 20 30.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.595588235 0.595588235 1 0.672566372 0.672566372 1 0.97007874 0.97007874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000855237 1 0.0000289 1 2.18E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 154728714 T C - - - - - - 32 0 0 32 3 9.4 37 8 21.6 67 24 35.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.691176471 0.691176471 1 1.274336283 1.274336283 1 1.127559055 1.127559055 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000556213 1 1.33E-11 1 4.72E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 155130718 T C PLCH1 ENST00000494598 r.? - - intronic 25 0 0 27 2 7.4 36 7 19.4 62 15 24.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.544117647 0.544117647 1 1.144542773 1.144542773 1 0.762204724 0.762204724 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00807567 1 5.74E-10 1 2.28E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 155582640 T C - - - - - - 41 0 0 43 4 9.3 24 5 20.8 61 16 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.683823529 0.683823529 1 1.227138643 1.227138643 1 0.82519685 0.82519685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000066 1 0.000000123 1 2.5E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 155589324 A C GMPS CCDS46941.1 r.? - - intronic 21 0 0 10 0 0 3 2 66.7 47 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 3.935103245 3.935103245 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000748 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 155670909 C T - - - - - - 41 0 0 39 2 5.1 50 5 10 65 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.375 0.375 1 0.589970501 0.589970501 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.016387522 1 0.00000549 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 160940060 A G NMD3 CCDS3194.1 r.? - - intronic 35 0 0 29 2 6.9 33 7 21.2 61 21 34.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.507352941 0.507352941 1 1.250737463 1.250737463 1 1.083464567 1.083464567 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009279585 1 2.98E-10 1 4.8E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 161142975 C T - - - - - - 26 0 0 33 1 3 36 7 19.4 55 22 40 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.220588235 0.220588235 1 1.144542773 1.144542773 1 1.25984252 1.25984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.15245715 1 5.74E-10 1 2.65E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 161881460 T C - - - - - - 37 0 0 29 0 0 49 7 14.3 63 17 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.843657817 0.843657817 1 0.850393701 0.850393701 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 5.58E-09 1 6.22E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 162088574 T A - - - - - - 30 0 0 27 3 11.1 45 6 13.3 61 24 39.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.784660767 0.784660767 1 1.237795276 1.237795276 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000334187 1 0.000000108 1 2.97E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 162441816 G C - - - - - - 29 0 0 31 5 16.1 28 5 17.9 53 20 37.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.183823529 1.183823529 1 1.056047198 1.056047198 1 1.187401575 1.187401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000476 1 0.000000279 1 1.65E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 163170095 T C - - - - - - 32 0 0 30 1 3.3 30 4 13.3 46 18 39.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.242647059 0.242647059 1 0.784660767 0.784660767 1 1.231496063 1.231496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.139615808 1 0.0000154 1 9.41E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 163199015 A G - - - - - - 33 0 0 23 2 8.7 39 5 12.8 65 22 33.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.639705882 0.639705882 1 0.755162242 0.755162242 1 1.064566929 1.064566929 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00589844 1 0.00000156 1 2.36E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 163319265 T G - - - - - - 28 0 0 42 3 7.1 34 9 26.5 49 18 36.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.522058824 0.522058824 1 1.563421829 1.563421829 1 1.155905512 1.155905512 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001240292 1 9.15E-14 1 3.8E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 163945549 T C - - - - - - 25 0 0 34 5 14.7 28 6 21.4 58 17 29.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.080882353 1.080882353 1 1.262536873 1.262536873 1 0.922834646 0.922834646 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000771 1 5.36E-09 1 1.24E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 164217720 C G - - - - - - 30 0 0 20 2 10 51 9 17.6 65 24 36.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 1.038348083 1.038348083 1 1.162204724 1.162204724 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.004473894 1 4.92E-12 1 1.94E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 165323391 G A - - - - - - 45 0 0 36 2 5.6 33 6 18.2 69 19 27.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.411764706 0.411764706 1 1.073746313 1.073746313 1 0.866141732 0.866141732 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.014070883 1 1.54E-08 1 6.95E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 166116146 T A - - - - - - 36 0 0 33 2 6.1 39 4 10.3 66 19 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.509529412 0.509529412 1 0.710669617 0.710669617 1 1.195086614 1.195086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011909843 1 0.0000447 1 2.64E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 170097229 C G SKIL CCDS33890.1 r.? - - intronic 29 0 0 30 2 6.7 30 7 23.3 73 11 15.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.559647059 0.559647059 1 1.607631268 1.607631268 1 0.626590551 0.626590551 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009909649 1 1.44E-10 1 1.31E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 172870700 C G - - - - - - 29 0 0 33 3 9.1 39 6 15.4 78 20 25.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.760117647 0.760117647 1 1.062554572 1.062554572 1 1.062299213 1.062299213 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000609557 1 4.43E-08 1 1.43E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 105487645 G A ATXN7L1 CCDS47682.1 r.? - - intronic 28 0 0 34 2 5.9 36 8 22.2 70 25 35.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.433823529 0.433823529 1 1.309734513 1.309734513 1 1.124409449 1.124409449 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.012612579 1 1.04E-11 1 1.55E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 172940570 C T - - - - - - 30 0 0 44 3 6.8 63 10 15.9 82 18 22 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.568 0.568 1 1.097053097 1.097053097 1 0.912913386 0.912913386 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00142027 1 9.81E-13 1 1.65E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 174461794 A T NAALADL2 ENST00000434257 r.? - - intronic 29 0 0 35 0 0 55 5 9.1 89 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.627873156 0.627873156 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000883 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 175051266 A C NAALADL2 CCDS46960.1 r.? - - intronic 31 0 0 28 2 7.1 35 5 14.3 87 21 24.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.593058824 0.593058824 1 0.986657817 0.986657817 1 1.000055118 1.000055118 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.008668191 1 0.000000895 1 2.64E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 175051279 C G NAALADL2 CCDS46960.1 r.? - - intronic 32 0 0 30 2 6.7 39 6 15.4 83 18 21.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.559647059 0.559647059 1 1.062554572 1.062554572 1 0.900464567 0.900464567 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009909649 1 4.43E-08 1 2.09E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 175445612 A T NAALADL2 CCDS46960.1 r.? - - intronic 27 0 0 38 3 7.9 44 8 18.2 100 22 22 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.659882353 0.659882353 1 1.255746313 1.255746313 1 0.912913386 0.912913386 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000925091 1 5.9E-11 1 1.2E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 175674961 T C - - - - - - 34 0 0 38 3 7.9 44 5 11.4 81 18 22.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.659882353 0.659882353 1 0.786566372 0.786566372 1 0.921212598 0.921212598 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000925091 1 0.00000288 1 1.29E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 181241960 C A - - - - - - 31 0 0 28 2 7.1 53 5 9.4 81 20 24.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.593058824 0.593058824 1 0.648572271 0.648572271 1 1.024952756 1.024952756 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.008668191 1 0.00000734 1 3.35E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 181262735 C A - - - - - - 20 0 0 47 4 8.5 65 9 13.8 79 24 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.71 0.71 1 0.952159292 0.952159292 1 1.261480315 1.261480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000939 1 4.85E-11 1 5.2E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 184697019 T A VPS8 CCDS46971.1 r.? - - intronic 30 0 0 39 3 7.7 45 8 17.8 84 18 21.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.643176471 0.643176471 1 1.228147493 1.228147493 1 0.888015748 0.888015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000998458 1 7.14E-11 1 2.65E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 184901696 C T - - - - - - 34 0 0 36 4 11.1 48 8 16.7 86 25 29.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.927176471 0.927176471 1 1.152250737 1.152250737 1 1.207535433 1.207535433 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000324 1 1.23E-10 1 6.84E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 190559350 T C - - - - - - 31 0 0 44 3 6.8 42 9 21.4 83 21 25.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.568 0.568 1 1.476536873 1.476536873 1 1.049850394 1.049850394 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00142027 1 7.51E-13 1 8.7E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 191306041 G T - - - - - - 36 0 0 48 1 2.1 55 5 9.1 93 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.175411765 0.175411765 1 0.627873156 0.627873156 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.213845552 1 0.00000883 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 109021907 G A - - - - - - 22 0 0 37 5 13.5 36 8 22.2 55 19 34.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.992647059 0.992647059 1 1.309734513 1.309734513 1 1.086614173 1.086614173 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000119 1 1.04E-11 1 4.51E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 5813430 G A EVC CCDS3383.1 r.3829g>a c.? p.? 3'UTR variant 38 0 0 37 0 0 12 4 33.3 51 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.63160177 1.63160177 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000003 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 9724063 C T - - - - - - 30 0 0 27 2 7.4 22 7 31.8 43 20 46.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.470117647 0.470117647 1 1.558106195 1.558106195 1 0.999566929 0.999566929 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00807567 1 1.25E-11 1 8.21E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 12771536 A G - - - - - - 37 0 0 24 2 8.3 30 6 20 41 17 41.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.527294118 0.527294118 1 0.979941003 0.979941003 1 0.892086614 0.892086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006413403 1 8.37E-09 1 1.03E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 27573001 T A - - - - - - 20 0 0 23 2 8.7 36 13 36.1 43 19 44.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.552705882 0.552705882 1 1.76879351 1.76879351 1 0.950125984 0.950125984 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00589844 1 2.53E-21 1 1.36E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 29094344 A G - - - - - - 33 0 0 23 2 8.7 27 12 44.4 32 12 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.552705882 0.552705882 1 2.175469027 2.175469027 1 0.806102362 0.806102362 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00589844 1 3.96E-21 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 29101268 A T - - - - - - 26 0 0 25 3 12 23 8 34.8 38 13 34.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.762352941 0.762352941 1 1.705097345 1.705097345 1 0.735165354 0.735165354 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00026475 1 1.79E-13 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 30109409 C G ENSG00000237496 ENST00000424014 r.? - - intronic 27 0 0 29 3 10.3 24 4 16.7 41 14 34.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.654352941 0.654352941 1 0.818250737 0.818250737 1 0.733015748 0.733015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000414371 1 0.00000613 1 1.9E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 31417744 T G - - - - - - 36 0 0 25 2 8 33 4 12.1 54 24 44.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.508235294 0.508235294 1 0.592864307 0.592864307 1 0.954425197 0.954425197 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006948068 1 0.0000228 1 7.24E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 31915430 C A - - - - - - 21 0 0 24 4 16.7 15 3 20 31 10 32.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 0.979941003 0.979941003 1 0.694322835 0.694322835 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000613 1 0.0000544 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 46488856 C A - - - - - - 31 0 0 26 2 7.7 34 9 26.5 46 15 32.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.489176471 0.489176471 1 1.298421829 1.298421829 1 0.700771654 0.700771654 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.007502227 1 9.15E-14 1 1.35E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 46556481 C T - - - - - - 33 0 0 24 0 0 33 4 12.1 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.592864307 0.592864307 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000228 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 46651644 T C - - - - - - 33 0 0 24 0 0 39 4 10.3 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.504669617 0.504669617 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000447 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 47051684 A T GABRB1 CCDS3474.1 r.? - - intronic 41 0 0 34 4 11.8 41 5 12.2 68 23 33.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.867647059 0.867647059 1 0.719764012 0.719764012 1 1.017422218 1.017422218 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000257 1 0.00000202 1 7.7E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 48314801 G A - - - - - - 33 0 0 20 2 10 36 6 16.7 44 14 31.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 0.985250737 0.985250737 1 0.957219719 0.957219719 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.004473894 1 2.68E-08 1 6.1E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 56639269 G A - - - - - - 31 0 0 22 2 9.1 35 4 11.4 45 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.578117647 0.578117647 1 0.558566372 0.558566372 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.005403392 1 0.0000289 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 58641075 G A - - - - - - 31 0 0 29 1 3.4 29 7 24.1 35 16 45.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.216 0.216 1 1.180828909 1.180828909 1 0.982370079 0.982370079 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.135292269 1 1.11E-10 1 5.66E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 60884061 T G - - - - - - 33 0 0 23 3 13 33 4 12.1 38 19 50 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.825882353 0.825882353 1 0.592864307 0.592864307 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000205387 1 0.0000228 1 6.16E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 63606329 A T - - - - - - 30 0 0 38 1 2.6 28 6 21.4 65 19 29.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.191176471 0.191176471 1 1.262536873 1.262536873 1 0.919685039 0.919685039 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.173434892 1 5.36E-09 1 1.89E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 64823008 A G - - - - - - 32 0 0 29 3 10.3 31 7 22.6 58 14 24.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 1.333333333 1.333333333 1 0.759055118 0.759055118 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000414371 1 1.85E-10 1 5.04E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 66089273 G C - - - - - - 31 0 0 42 3 7.1 32 5 15.6 70 19 27.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.522058824 0.522058824 1 0.920353982 0.920353982 1 0.853543307 0.853543307 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001240292 1 0.000000562 1 9.5E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 66917871 C T - - - - - - 25 0 0 25 2 8 38 9 23.7 60 19 31.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.588235294 0.588235294 1 1.398230088 1.398230088 1 0.998425197 0.998425197 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006948068 1 2.79E-13 1 3.21E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 68718507 A G TMPRSS11D CCDS3518.1 r.? - - intronic 23 0 0 27 2 7.4 43 5 11.6 76 24 31.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.544117647 0.544117647 1 0.684365782 0.684365782 1 0.995275591 0.995275591 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00807567 1 0.00000257 1 1.75E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 75562964 G T - - - - - - 40 0 0 39 3 7.7 36 4 11.1 86 23 26.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.566176471 0.566176471 1 0.654867257 0.654867257 1 0.840944882 0.840944882 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000998458 1 0.0000324 1 4.16E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 81108647 G A PRDM8 CCDS43243.1 r.? - - intronic 34 0 0 30 3 10 36 6 16.7 66 19 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 0.985250737 0.985250737 1 0.907086614 0.907086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000458697 1 2.68E-08 1 2.64E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 81192757 G A FGF5 CCDS3586.1 r.? - - intronic 28 0 0 34 1 2.9 32 6 18.8 64 17 26.6 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.213235294 0.213235294 1 1.109144543 1.109144543 1 0.837795276 0.837795276 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.156694864 1 1.27E-08 1 8.43E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 82100591 C T PRKG2 CCDS3589.1 r.? - - intronic 26 0 0 32 3 9.4 32 7 21.9 62 16 25.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.691176471 0.691176471 1 1.292035398 1.292035398 1 0.812598425 0.812598425 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000556213 1 2.36E-10 1 3.36E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 83312572 A G - - - - - - 31 0 0 28 2 7.1 22 4 18.2 84 30 35.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.522058824 0.522058824 1 1.073746313 1.073746313 1 1.124409449 1.124409449 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.008668191 1 0.00000425 1 3.88E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 86135364 G A - - - - - - 31 0 0 29 3 10.3 41 10 24.4 63 25 39.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 1.439528024 1.439528024 1 1.250393701 1.250393701 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000414371 1 9.51E-15 1 6.06E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 92391483 A T FAM190A CCDS47099.1 r.? - - intronic 29 0 0 35 3 8.6 48 5 10.4 59 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.632352941 0.632352941 1 0.613569322 0.613569322 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.000725791 1 0.00000447 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 97789228 A T - - - - - - 37 0 0 21 0 0 35 3 8.6 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.421374631 0.421374631 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000725791 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 104241739 C A - - - - - - 41 0 0 27 0 0 34 4 11.8 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.578165192 0.578165192 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000257 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 107707390 G A - - - - - - 31 0 0 29 3 10.3 27 8 29.6 39 18 46.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.654352941 0.654352941 1 1.450312684 1.450312684 1 0.99311811 0.99311811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000414371 1 7.97E-13 1 2.15E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 110682119 T C CFI CCDS34049.1 r.? - - intronic 27 0 0 31 3 9.7 24 4 16.7 52 22 42.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.616235294 0.616235294 1 0.818250737 0.818250737 1 0.909283465 0.909283465 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000505952 1 0.00000613 1 5.59E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 111945382 G A - - - - - - 31 0 0 25 3 12 34 5 14.7 31 10 32.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.762352941 0.762352941 1 0.720256637 0.720256637 1 0.694322835 0.694322835 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00026475 1 0.000000771 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 112252724 G A - - - - - - 34 0 0 30 3 10 29 9 31 60 31 51.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.635294118 0.635294118 1 1.518908555 1.518908555 1 1.111346457 1.111346457 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000458697 1 1.79E-14 1 4.63E-55 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 118704246 T C - - - - - - 45 0 0 27 2 7.4 35 8 22.9 59 26 44.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.470117647 0.470117647 1 1.122032448 1.122032448 1 0.947976378 0.947976378 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00807567 1 8.15E-12 1 5.03E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 127268050 C A - - - - - - 41 0 0 28 2 7.1 38 4 10.5 41 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.451058824 0.451058824 1 0.514469027 0.514469027 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.008668191 1 0.0000403 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 133660946 G A - - - - - - 34 1 2.9 23 4 17.4 35 8 22.9 50 23 46 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.105411765 1.105411765 1 1.122032448 1.122032448 1 0.988818898 0.988818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 0.156694864 1 0.00000513 1 8.15E-12 1 1.13E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 137312580 T A - - - - - - 29 0 0 29 6 20.7 26 8 30.8 43 18 41.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.315058824 1.315058824 1 1.509109145 1.509109145 1 0.900685039 0.900685039 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.72E-09 1 5.63E-13 1 2.06E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 151746904 A T LRBA CCDS3773.1 r.? - - intronic 30 0 0 29 1 3.4 29 3 10.3 47 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.216 0.216 1 0.504669617 0.504669617 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.135292269 1 0.000414371 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 157681416 G A PDGFC ENST00000502773 r.? - - downstream 26 0 0 25 0 0 28 4 14.3 51 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.700657817 0.700657817 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000116 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 165056321 G A Mar-01 CCDS45732.1 r.? - - intronic 33 0 0 26 3 11.5 29 7 24.1 42 17 40.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.730588235 0.730588235 1 1.180828909 1.180828909 1 0.870590551 0.870590551 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000298167 1 1.11E-10 1 1.73E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 165082528 G T Mar-01 CCDS45732.1 r.? - - intronic 24 0 0 20 3 15 21 7 33.3 32 15 46.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.952941176 0.952941176 1 1.63160177 1.63160177 1 1.008165354 1.008165354 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0001337 1 8.54E-12 1 1.59E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 165316250 C A - - - - - - 26 0 0 31 0 0 28 4 14.3 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.700657817 0.700657817 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000116 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 165444262 T C - - - - - - 40 1 2.5 28 4 14.3 30 7 23.3 36 15 41.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 1.141631268 1.141631268 1 0.896385827 0.896385827 1 NA NA 1 NA NA 1 NA NA 1 9 NA 0.181679879 1 0.0000116 1 1.44E-10 1 1.54E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 166875063 T A TLL1 CCDS3811.1 r.? - - intronic 33 0 0 25 2 8 36 6 16.7 46 16 34.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.508235294 0.508235294 1 0.818250737 0.818250737 1 0.748062992 0.748062992 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006948068 1 2.68E-08 1 1.31E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 172137671 C A - - - - - - 30 0 0 30 0 0 28 4 14.3 52 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.700657817 0.700657817 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000116 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 173213372 G C GALNTL6 CCDS34104.1 r.? - - intronic 25 0 0 32 2 6.2 34 6 17.6 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.393882353 0.393882353 1 0.862348083 0.862348083 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.011224977 1 1.86E-08 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 174623877 T C - - - - - - 29 0 0 31 4 12.9 39 6 15.4 33 16 48.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.819529412 0.819529412 1 0.754554572 0.754554572 1 1.042559055 1.042559055 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000177 1 4.43E-08 1 1.64E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 176271892 A G - - - - - - 25 0 0 24 3 12.5 36 8 22.2 39 18 46.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 1.087734513 1.087734513 1 0.99311811 0.99311811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000233853 1 1.04E-11 1 2.15E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 177434537 T C - - - - - - 29 0 0 33 5 15.2 26 7 26.9 52 17 32.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.965647059 0.965647059 1 1.318020649 1.318020649 1 0.70292126 0.70292126 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 4.73E-11 1 1.42E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 182162783 C T - - - - - - 15 0 0 12 3 25 7 3 42.9 29 5 17.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.588235294 1.588235294 1 2.101973451 2.101973451 1 0.369732283 0.369732283 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000266 1 0.00000431 1 0.000000336 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 184609492 G T C4orf41 CCDS34112.1 r.? - - intronic 27 0 0 24 3 12.5 35 5 14.3 58 29 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 0.700657817 0.700657817 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000233853 1 0.000000895 1 4.87E-51 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 187116852 A C CYP4V2 CCDS34119.1 r.? - - intronic 13 0 0 19 2 10.5 28 4 14.3 27 4 14.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.667058824 0.667058824 1 0.700657817 0.700657817 1 0.318141732 0.318141732 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.004039874 1 0.0000116 1 0.00001 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 857614 C A - - - - - - 40 0 0 35 0 0 10 3 30 69 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.845376135 1.845376135 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.0000146 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 7214597 C G - - - - - - 36 0 0 25 3 12 44 18 40.9 85 59 69.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.918294285 0.918294285 1 2.515862798 1.117392096 2.251548769 2.879826772 0.959942257 3 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00026475 1 3.47E-30 1 7.69E-115 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 8401934 T G - - - - - - 29 0 0 40 3 7.5 51 4 7.8 95 24 25.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.573933928 0.573933928 1 0.479797795 0.479797795 1 1.049850394 1.049850394 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.001075403 1 0.000129466 1 8.29E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 11167933 C T CTNND2 CCDS3881.1 r.? - - intronic 30 0 0 41 5 12.2 26 8 30.8 79 29 36.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.93359919 0.93359919 1 1.894586165 0.841459084 2.251548769 1.522905512 0.761452756 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000202 1 5.63E-13 1 4.86E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 17755858 G T - - - - - - 27 0 0 22 0 0 39 4 10.3 84 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.63357914 0.63357914 1 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 0.0000447 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 20336704 C T CDH18 CCDS3652.1 r.? - - intronic 24 0 0 31 3 9.7 13 4 30.8 69 25 36.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.74228788 0.74228788 1 1.894586165 1.894586165 1 1.50215748 0.75107874 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000505952 1 0.000000431 1 1E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 20823728 C G - - - - - - 26 0 0 34 5 14.7 29 9 31 67 32 47.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.124910499 1.124910499 1 1.906888673 0.846923104 2.251548769 1.983511811 0.991755906 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000000771 1 1.79E-14 1 2.63E-55 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 21342095 C T - - - - - - 26 0 0 23 3 13 17 5 29.4 42 31 73.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.923825297 0.923825297 1 1.734513274 1.734513274 1 2.324409449 1.162204724 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000205387 1 1.84E-08 1 1.89E-62 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 21840647 G A CDH12 CCDS3890.1 r.? - - intronic 25 0 0 29 2 6.9 32 6 18.8 48 14 29.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.490338042 0.490338042 1 1.109144543 1.109144543 1 0.919685039 0.919685039 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.009279585 1 1.27E-08 1 2.51E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 24344334 C T - - - - - - 29 0 0 29 2 6.9 42 12 28.6 48 19 39.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.490338042 0.490338042 1 1.687315634 0.843657817 2 1.247244094 1.247244094 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.009279585 1 2.35E-18 1 1.92E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 24764231 T A - - - - - - 27 0 0 35 0 0 43 4 9.3 51 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 NA 0 0.548672566 0.548672566 1 0 0 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 1 1 0.000066 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 27365777 C T - - - - - - 23 0 0 31 2 6.5 37 11 29.7 58 16 27.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.461912648 0.461912648 1 1.752212389 0.876106195 2 0.869291339 0.869291339 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.010558179 1 3.7E-17 1 1E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 27393859 C T - - - - - - 30 0 0 37 3 8.1 30 6 20 60 20 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.575614223 0.575614223 1 1.179941003 1.179941003 1 1.048818898 1.048818898 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000855237 1 8.37E-09 1 3.3E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 30256272 C G - - - - - - 31 0 0 31 1 3.2 31 4 12.9 46 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.22740315 NA 0 0.761061947 0.761061947 1 0 0 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 0.143917729 1 0.0000177 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 31004192 G A - - - - - - 32 0 0 35 4 11.4 37 6 16.2 70 18 25.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.810123722 0.810123722 1 0.955752212 0.955752212 1 0.809448819 0.809448819 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000289 1 3.18E-08 1 6.91E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 31038189 C T - - - - - - 23 0 0 29 4 13.8 49 12 24.5 63 15 23.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.980676084 0.980676084 1 1.445427729 1.445427729 1 0.749606299 0.749606299 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000134 1 1.9E-17 1 2.97E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 11730633 C T - - - - - - 23 0 0 49 1 2 68 8 11.8 175 0 0 126 0 0 369 15 4.1 400 33 8.2 6.14E-20 467 0 0 TRUE TRUE 0.207058824 0.207058824 1 0.8504471 0.8504471 1 0 0 1 0.424470588 0.424470588 1 0.590988662 0.590988662 1 0 0 1 3 7 1 1 0.217776325 1.07E-09 2.21E-09 4.28E-29 1 1 YES 0_1 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 5 38645054 G C - - - - - - 30 0 0 46 1 2.2 43 4 9.3 67 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.156339666 NA 0 0.548672566 0.548672566 1 0 0 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 0.205924651 1 0.000066 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 41127948 G T - - - - - - 34 0 0 28 2 7.1 44 22 50 82 52 63.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.504550739 0.504550739 1 2.949852507 1.474926254 2 1.996850394 0.998425197 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.008668191 1 4.51E-39 1 4.26E-98 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 42997403 G C - - - - - - 36 0 0 38 0 0 45 4 8.9 70 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 NA 0 0.525073746 0.525073746 1 0 0 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 1 1 0.0000791 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 49773993 A T - - - - - - 33 0 0 23 0 0 19 3 15.8 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.774153392 0.774153392 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000114071 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 51485910 G A - - - - - - 37 0 0 29 3 10.3 23 6 26.1 28 15 53.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.654352941 0.654352941 1 1.278823009 1.278823009 1 1.152188976 1.152188976 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000414371 1 1.47E-09 1 1.07E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 68307210 C A - - - - - - 42 0 0 29 0 0 7 3 42.9 34 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 2.101973451 2.101973451 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000431 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 69069249 A T - - - - - - 19 0 0 21 1 4.8 25 4 16 41 1 2.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.304941176 0.304941176 1 0.783952802 0.783952802 1 0.051590551 0.051590551 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.099912572 1 0.00000727 1 0.18577148 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 71245201 G C - - - - - - 34 0 0 21 0 0 26 3 11.5 67 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.563466077 0.563466077 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000298167 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 74277067 C T - - - - - - 35 0 0 29 3 10.3 37 12 32.4 37 15 40.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.654352941 0.654352941 1 1.587504425 1.587504425 1 0.870590551 0.870590551 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000414371 1 4.03E-19 1 2.58E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 74624151 C A - - - - - - 22 0 0 25 2 8 41 6 14.6 53 29 54.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.508235294 0.508235294 1 0.715356932 0.715356932 1 1.175834646 1.175834646 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006948068 1 6.05E-08 1 1.29E-52 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 81839882 A T - - - - - - 39 0 0 25 4 16 33 9 27.3 50 29 58 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.016470588 1.016470588 1 1.337619469 1.337619469 1 1.246771654 1.246771654 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000727 1 6.76E-14 1 1.13E-53 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 85426368 G A - - - - - - 25 0 0 39 4 10.3 23 5 21.7 45 22 48.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.654352941 0.654352941 1 1.063235988 1.063235988 1 1.05115748 1.05115748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000447 1 9.75E-08 1 8.79E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 89854140 A T GPR98 CCDS47246.1 r.? - - upstream 27 0 0 20 0 0 22 4 18.2 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.891746313 0.891746313 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000425 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 92715657 C T - - - - - - 24 0 0 35 0 0 33 6 18.2 47 19 40.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.891746313 0.891746313 1 0.868440945 0.868440945 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 1.54E-08 1 1.16E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 95240580 C A ELL2 CCDS4080.1 r.? - - intronic 31 0 0 26 0 0 36 4 11.1 37 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.543867257 0.543867257 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000324 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 100124831 A C - - - - - - 27 0 0 33 3 9.1 38 5 13.2 33 16 48.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.578117647 0.578117647 1 0.646761062 0.646761062 1 1.042559055 1.042559055 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000609557 1 0.00000137 1 1.64E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 103226906 C T - - - - - - 37 0 0 26 3 11.5 39 10 25.6 49 24 49 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.730588235 0.730588235 1 1.254324484 1.254324484 1 1.053307087 1.053307087 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000298167 1 5.44E-15 1 3.34E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 103612544 G A - - - - - - 39 0 0 22 0 0 36 6 16.7 51 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.818250737 0.818250737 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 2.68E-08 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 109561784 C G - - - - - - 24 0 0 17 2 11.8 38 5 13.2 40 19 47.5 1 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.867647059 0.867647059 1 0.778761062 0.778761062 1 1.496062992 1.496062992 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.003234386 1 0.00000137 1 2.27E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 110323801 G C - - - - - - 18 0 0 16 0 0 23 5 21.7 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.063235988 1.063235988 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 9.75E-08 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 111596433 T C EPB41L4A CCDS43350.1 r.? - - intronic 31 0 0 29 2 6.9 32 11 34.4 63 29 46 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.438352941 0.438352941 1 1.685498525 1.685498525 1 0.988818898 0.988818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009279585 1 5.72E-18 1 1.2E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 113317713 G T - - - - - - 20 0 0 30 3 10 34 4 11.8 59 27 45.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.635294118 0.635294118 1 0.578165192 0.578165192 1 0.984519685 0.984519685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000458697 1 0.0000257 1 3.09E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 121975392 T C - - - - - - 34 0 0 22 2 9.1 41 10 24.4 48 24 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.578117647 0.578117647 1 1.195528024 1.195528024 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.005403392 1 9.51E-15 1 1.71E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 141131603 G C - - - - - - 36 0 0 25 2 8 34 4 11.8 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.508235294 0.508235294 1 0.578165192 0.578165192 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.006948068 1 0.0000257 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 141343854 G A RNF14 CCDS4270.1 r.? - - upstream 24 0 0 29 1 3.4 32 10 31.2 45 21 46.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.216 0.216 1 1.528707965 1.528707965 1 1.003866142 1.003866142 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.135292269 1 5.7E-16 1 1.6E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 143848178 T C KCTD16 CCDS34260.1 r.? - - intronic 39 0 0 27 1 3.7 32 5 15.6 42 20 47.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.235058824 0.235058824 1 0.764353982 0.764353982 1 1.023212598 1.023212598 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.126579904 1 0.000000562 1 4.41E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 146905394 T G - - - - - - 38 0 0 30 6 20 38 5 13.2 63 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.270588235 1.270588235 1 0.646761062 0.646761062 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 8.37E-09 1 0.00000137 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 150511266 C G ANXA6 CCDS47315.1 r.? - - intronic 34 0 0 29 5 17.2 23 4 17.4 47 16 34 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.092705882 1.092705882 1 0.852548673 0.852548673 1 0.730866142 0.730866142 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000336 1 0.00000513 1 1.98E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 156764261 A G C5orf40 CCDS4337.1 r.? - - downstream 30 0 0 22 3 13.6 28 5 17.9 52 26 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.864 0.864 1 0.877047198 0.877047198 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000179267 1 0.000000279 1 6.52E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 159683187 C T CCNJL CCDS4350.2 r.? - - intronic 30 0 0 22 3 13.6 29 5 17.2 54 23 42.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.864 0.864 1 0.842749263 0.842749263 1 0.915732283 0.915732283 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000179267 1 0.000000336 1 1.12E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 163566480 C T - - - - - - 34 0 0 25 2 8 35 9 25.7 35 16 45.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.508235294 0.508235294 1 1.259224189 1.259224189 1 0.982370079 0.982370079 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006948068 1 1.23E-13 1 5.66E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 166566456 G A - - - - - - 32 0 0 31 3 9.7 35 7 20 40 15 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.616235294 0.616235294 1 0.979941003 0.979941003 1 0.806102362 0.806102362 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000505952 1 4.65E-10 1 1.09E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 172913488 T C - - - - - - 28 0 0 22 3 13.6 32 8 25 48 27 56.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.864 0.864 1 1.224926254 1.224926254 1 1.20807874 1.20807874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000179267 1 3.69E-12 1 1.5E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 173943868 T C - - - - - - 19 0 0 29 3 10.3 25 7 28 35 18 51.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.654352941 0.654352941 1 1.371917404 1.371917404 1 1.104897638 1.104897638 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000414371 1 3.47E-11 1 1.6E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 175432747 G T THOC3 ENST00000514861 r.? - - intronic 30 0 0 22 3 13.6 40 9 22.5 45 17 37.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.864 0.864 1 1.102433628 1.102433628 1 0.812551181 0.812551181 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000179267 1 4.64E-13 1 7.37E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 176822429 C A SLC34A1 CCDS4418.1 r.? - - intronic 34 0 0 23 0 0 17 3 17.6 43 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.862348083 0.862348083 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000807 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 180195167 C A - - - - - - 44 0 0 27 2 7.4 24 6 25 45 21 46.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.470117647 0.470117647 1 1.224926254 1.224926254 1 1.003866142 1.003866142 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00807567 1 1.95E-09 1 1.6E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 1297599 A G - - - - - - 39 0 0 31 3 9.7 27 4 14.8 67 23 34.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.713235294 0.713235294 1 0.873156342 0.873156342 1 1.080314961 1.080314961 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000505952 1 0.00001 1 5.12E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 3914611 C A - - - - - - 36 0 0 32 2 6.2 41 6 14.6 71 21 29.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.455882353 0.455882353 1 0.861356932 0.861356932 1 0.932283465 0.932283465 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011224977 1 6.05E-08 1 2.05E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 4521390 T A - - - - - - 28 0 0 33 0 0 27 5 18.5 72 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.091445428 1.091445428 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000023 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 7286881 G A SSR1 CCDS4499.1 r.4164c>u c.? p.? 3'UTR variant 29 0 0 41 2 4.9 25 5 20 67 25 37.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.360294118 0.360294118 1 1.179941003 1.179941003 1 1.17480315 1.17480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.018015855 1 0.000000153 1 4.07E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 13032996 C T PHACTR1 ENST00000379350 r.? - - intronic 28 0 0 30 2 6.7 24 4 16.7 62 19 30.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.492647059 0.492647059 1 0.985250737 0.985250737 1 0.963779528 0.963779528 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009909649 1 0.00000613 1 6.66E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146340137 G C CNTNAP2 CCDS5889.1 r.? - - intronic 12 0 0 5 0 0 13 1 7.7 22 6 27.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.500639683 0.500639683 1 0.85984252 0.85984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 0.063085307 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 30574816 A C PPP1R10 CCDS4681.1 r.? - - intronic 33 0 0 34 4 11.8 50 13 26 65 15 23.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.867647059 0.867647059 1 1.533923304 1.533923304 1 0.727559055 0.727559055 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 3.65E-19 1 5E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 35153653 G T - - - - - - 37 0 0 30 0 0 19 3 15.8 67 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.932153392 0.932153392 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000114071 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 37299458 T A TBC1D22B CCDS4832.1 r.2174u>a c.? p.? 3'UTR variant 19 0 0 17 2 11.8 34 13 38.2 64 37 57.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.867647059 0.867647059 1 2.253687316 1.126843658 2 1.820472441 0.91023622 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.003234386 1 1.03E-21 1 5.4E-68 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 40723284 C A - - - - - - 19 0 0 20 0 0 23 3 13 67 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.766961652 0.766961652 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000205387 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 41005960 T G UNC5CL CCDS4847.1 r.? - - intronic 30 0 0 30 0 0 32 8 25 70 19 27.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.474926254 1.474926254 1 0.853543307 0.853543307 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 3.69E-12 1 9.5E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 41092098 T A - - - - - - 25 0 0 29 0 0 17 3 17.6 56 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.038348083 1.038348083 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000807 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 48937997 T A - - - - - - 29 0 0 38 1 2.6 17 3 17.6 49 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.217176471 0.217176471 1 1.038348083 1.038348083 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.173434892 1 0.0000807 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 62360133 C A - - - - - - 39 0 0 38 3 7.9 39 9 23.1 52 15 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.580882353 0.580882353 1 1.362831858 1.362831858 1 0.907086614 0.907086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000925091 1 3.62E-13 1 1.15E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 62849969 A G KHDRBS2 CCDS4963.1 r.? - - intronic 39 0 0 26 3 11.5 37 6 16.2 62 21 33.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.845588235 0.845588235 1 0.955752212 0.955752212 1 1.067716535 1.067716535 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000298167 1 3.18E-08 1 7.22E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 63041377 C G - - - - - - 29 0 0 29 0 0 40 5 12.5 78 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.737463127 0.737463127 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000178 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 64082354 C T - - - - - - 39 0 0 44 3 6.8 44 5 11.4 63 18 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.5 0.5 1 0.672566372 0.672566372 1 0.900787402 0.900787402 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00142027 1 0.00000288 1 7.98E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 67366845 C A - - - - - - 33 0 0 33 1 3 33 4 12.1 55 17 30.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.220588235 0.220588235 1 0.713864307 0.713864307 1 0.973228346 0.973228346 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.15245715 1 0.0000228 1 4.35E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 69449374 A C BAI3 CCDS4968.1 r.? - - intronic 26 0 0 37 3 8.1 40 7 17.5 57 17 29.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.595588235 0.595588235 1 1.032448378 1.032448378 1 0.938582677 0.938582677 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000855237 1 1.26E-09 1 8.82E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 70262300 C A - - - - - - 21 0 0 28 3 10.7 40 5 12.5 56 21 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.786764706 0.786764706 1 0.737463127 0.737463127 1 1.181102362 1.181102362 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000372895 1 0.00000178 1 5.43E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 48712417 T C - - - - - - 31 0 0 30 0 0 38 4 10.5 64 0 0 205 0 0 279 11 3.9 339 11 3.2 0.000731203 383 0 0 FALSE FALSE 0 0 1 0.619469027 0.619469027 1 0 NA 0 0.286764706 0.286764706 1 0.18879056 0.18879056 1 0 NA 0 NA NA 1 1 1 0.000000235 0.0000403 0.00000158 1 1 YES 0_1 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 6 73852488 A C KCNQ5 CCDS4976.1 r.? - - intronic 33 0 0 33 2 6.1 17 6 35.3 54 15 27.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.448529412 0.448529412 1 2.08259587 2.08259587 1 0.875590551 0.875590551 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011909843 1 1.84E-10 1 2.2E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 74051941 A G - - - - - - 23 0 0 13 2 15.4 20 4 20 44 15 34.1 0 0 NA 1 0 0 2 0 0 1 2 1 50 TRUE TRUE 1.132352941 1.132352941 1 1.179941003 1.179941003 1 1.074015748 1.074015748 1 0 0 1 0 0 1 1.57480315 1.57480315 1 9 11 1 1 0.001879825 1 0.00000284 1 6.12E-24 0.009975 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 74445628 C T CD109 CCDS4982.1 r.? - - intronic 28 0 0 26 1 3.8 42 9 21.4 65 21 32.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.279411765 0.279411765 1 1.262536873 1.262536873 1 1.017322835 1.017322835 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.122190858 1 7.51E-13 1 2.35E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 77864556 G T - - - - - - 33 0 0 46 0 0 36 4 11.1 51 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.654867257 0.654867257 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000324 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 78386095 T A - - - - - - 25 0 0 38 3 7.9 24 4 16.7 52 12 23.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.580882353 0.580882353 1 0.985250737 0.985250737 1 0.727559055 0.727559055 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000925091 1 0.00000613 1 4.19E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 78588218 A T - - - - - - 28 0 0 35 2 5.7 36 4 11.1 55 17 30.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.419117647 0.419117647 1 0.654867257 0.654867257 1 0.973228346 0.973228346 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.013332991 1 0.0000324 1 4.35E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 80878860 T C BCKDHB CCDS4994.1 r.? - - intronic 25 0 0 25 2 8 41 6 14.6 63 22 34.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.588235294 0.588235294 1 0.861356932 0.861356932 1 1.099212598 1.099212598 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006948068 1 6.05E-08 1 1.03E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 81187985 A T - - - - - - 30 0 0 29 3 10.3 47 5 10.6 63 24 38.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 0.625368732 0.625368732 1 1.2 1.2 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000414371 1 0.00000402 1 7.74E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 85042710 C A - - - - - - 32 0 0 39 2 5.1 33 4 12.1 65 0 0 84 0 0 204 5 2.5 302 12 4 6.70E-05 218 0 0 FALSE FALSE 0.375 0.375 1 0.713864307 0.713864307 1 0 NA 0 0.183823529 0.183823529 1 0.235988201 0.235988201 1 0 NA 0 NA NA 1 1 0.016387522 0.003855139 0.0000228 6.18E-08 1 1 YES 1_1 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 6 83338958 G T - - - - - - 21 0 0 33 5 15.2 33 5 15.2 64 25 39.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.117647059 1.117647059 1 0.896755162 0.896755162 1 1.231496063 1.231496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000066 1 0.00000066 1 9.9E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 83507334 C A - - - - - - 29 0 0 41 1 2.4 35 4 11.4 61 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.176470588 0.176470588 1 0.672566372 0.672566372 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.18577148 1 0.0000289 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 85119400 T A - - - - - - 24 0 0 33 2 6.1 33 5 15.2 68 15 22.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.448529412 0.448529412 1 0.896755162 0.896755162 1 0.696062992 0.696062992 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011909843 1 0.00000066 1 1.06E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 85135935 C G - - - - - - 31 0 0 33 2 6.1 38 5 13.2 63 18 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.448529412 0.448529412 1 0.778761062 0.778761062 1 0.900787402 0.900787402 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011909843 1 0.00000137 1 7.98E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 86018006 T G - - - - - - 24 0 0 23 3 13 27 3 11.1 36 15 41.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.955882353 0.955882353 1 0.654867257 0.654867257 1 1.313385827 1.313385827 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000205387 1 0.000334187 1 1.54E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 87493634 G C - - - - - - 26 0 0 35 0 0 31 6 19.4 69 23 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.144542773 1.144542773 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 1.03E-08 1 1.15E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 87526509 T G - - - - - - 32 0 0 18 2 11.1 33 4 12.1 66 23 34.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.713864307 0.713864307 1 1.096062992 1.096062992 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.003626632 1 0.0000228 1 3.38E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 90241352 G A ANKRD6 CCDS47460.1 r.? - - intronic 27 0 0 30 5 16.7 25 6 24 62 24 38.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 1.415929204 1.415929204 1 1.218897638 1.218897638 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 2.55E-09 1 4.81E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 98758716 C T - - - - - - 24 0 0 31 2 6.5 46 11 23.9 66 14 21.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.477941176 0.477941176 1 1.410029499 1.410029499 1 0.667716535 0.667716535 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.010558179 1 5.55E-16 1 3.71E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 98789551 C T - - - - - - 29 0 0 35 1 2.9 31 7 22.6 68 25 36.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.213235294 0.213235294 1 1.333333333 1.333333333 1 1.159055118 1.159055118 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.16091139 1 1.85E-10 1 6.41E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 100165982 C T - - - - - - 26 0 0 40 1 2.5 47 8 17 60 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.183823529 0.183823529 1 1.002949853 1.002949853 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.181679879 1 1.03E-10 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 101745397 T A - - - - - - 31 0 0 32 0 0 41 5 12.2 61 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.719764012 0.719764012 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000202 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 102305620 T C GRIK2 CCDS5049.1 r.? - - intronic 34 0 0 20 3 15 42 7 16.7 63 17 27 0 0 NA 1 1 100 0 0 NA 1 0 0 NA TRUE FALSE 1.102941176 1.102941176 1 0.985250737 0.985250737 1 0.850393701 0.850393701 1 7.352941176 7.352941176 1 NA NA 1 NA NA 1 9 NA 1 1 0.0001337 0.005 1.81E-09 1 6.22E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 102416097 A C GRIK2 CCDS5049.1 r.? - - intronic 26 0 0 33 1 3 52 11 21.2 38 6 15.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.220588235 0.220588235 1 1.250737463 1.250737463 1 0.497637795 0.497637795 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.15245715 1 2.44E-15 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 102798559 C A - - - - - - 41 0 0 35 4 11.4 37 5 13.5 52 12 23.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.838235294 0.838235294 1 0.796460177 0.796460177 1 0.727559055 0.727559055 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000289 1 0.00000119 1 4.19E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 103217013 A G - - - - - - 36 0 0 40 4 10 40 7 17.5 58 16 27.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 1.032448378 1.032448378 1 0.869291339 0.869291339 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000495 1 1.26E-09 1 1E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 103541049 C A - - - - - - 33 0 0 29 1 3.4 35 8 22.9 56 14 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.25 0.25 1 1.351032448 1.351032448 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.135292269 1 8.15E-12 1 2.91E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 104150835 C T - - - - - - 36 0 0 41 4 9.8 39 8 20.5 56 19 33.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.720588235 0.720588235 1 1.209439528 1.209439528 1 1.067716535 1.067716535 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000546 1 2.09E-11 1 6.79E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 107389682 G C BEND3 CCDS34507.1 r.2904c>g c.? p.? 3'UTR variant 14 0 0 28 0 0 13 3 23.1 46 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.362831858 1.362831858 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000344 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 111557870 C T - - - - - - 25 0 0 29 1 3.4 31 5 16.1 54 22 40.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.25 0.25 1 0.949852507 0.949852507 1 1.281889764 1.281889764 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.135292269 1 0.000000476 1 1.6E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 154671012 C T DPP6 ENST00000404039 r.? - - intronic 30 0 0 23 2 8.7 4 0 0 34 19 55.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.552705882 0.552705882 1 0 0 1 1.201629921 1.201629921 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00589844 1 1 1 3.3E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 114872581 T C - - - - - - 41 0 0 28 1 3.6 32 5 15.6 63 15 23.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.264705882 0.264705882 1 0.920353982 0.920353982 1 0.749606299 0.749606299 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.130947004 1 0.000000562 1 2.97E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 116196289 T A - - - - - - 33 0 0 26 4 15.4 39 5 12.8 79 26 32.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.132352941 1.132352941 1 0.755162242 0.755162242 1 1.036220472 1.036220472 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000856 1 0.00000156 1 5.99E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 116646502 C A DSE CCDS5107.1 r.? - - intronic 22 0 0 25 0 0 45 4 8.9 57 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.525073746 0.525073746 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000791 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 120293492 C T - - - - - - 26 0 0 33 3 9.1 34 7 20.6 73 27 37 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.669117647 0.669117647 1 1.215339233 1.215339233 1 1.165354331 1.165354331 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000609557 1 3.73E-10 1 4.45E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 120730826 C T - - - - - - 35 0 0 35 2 5.7 32 4 12.5 77 20 26 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.419117647 0.419117647 1 0.737463127 0.737463127 1 0.818897638 0.818897638 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.013332991 1 0.0000201 1 1.07E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 120730829 A T - - - - - - 34 0 0 30 2 6.7 31 4 12.9 74 20 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.492647059 0.492647059 1 0.761061947 0.761061947 1 0.850393701 0.850393701 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009909649 1 0.0000177 1 4.34E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 123646881 C G TRDN ENST00000334268 r.? - - intronic 25 0 0 25 0 0 42 6 14.3 56 18 32.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.843657817 0.843657817 1 1.011023622 1.011023622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 7.02E-08 1 6.76E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 125092903 T A NKAIN2 CCDS34526.1 r.? - - intronic 29 0 0 36 1 2.8 27 3 11.1 66 24 36.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.205882353 0.205882353 1 0.654867257 0.654867257 1 1.146456693 1.146456693 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.165106833 1 0.000334187 1 3.04E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 127371328 G A - - - - - - 22 0 0 87 5 5.7 97 6 6.2 316 9 2.8 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 1.160117647 1.160117647 1 1.323042687 1.323042687 1 0.452188976 0.452188976 1 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 0.0000821 1 0.0000105 1 0.0000381 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 128860815 G C - - - - - - 35 0 0 114 2 1.8 137 9 6.6 319 18 5.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.366352941 0.366352941 1 1.40840028 1.40840028 1 0.344377953 0.344377953 1 NA NA 1 NA NA 1 NA NA 0 7 NA 1 1 0.111776077 1 3.93E-08 1 1.03E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 132368527 A T - - - - - - 26 0 0 57 3 5.3 66 4 6.1 139 12 8.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.548705882 0.548705882 1 0.542882006 0.542882006 1 0.528866142 0.528866142 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.002989991 1 0.000351793 1 9.05E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 136596144 A G BCLAF1 CCDS47486.1 r.? - - intronic 33 0 0 27 4 14.8 51 6 11.8 102 18 17.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.236235294 1.236235294 1 0.814165192 0.814165192 1 0.730330709 0.730330709 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00001 1 0.000000232 1 1.16E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 137811933 G A OLIG3 CCDS5186.1 r.? - - downstream 30 0 0 30 4 13.3 43 5 11.6 85 24 28.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.110941176 1.110941176 1 0.800365782 0.800365782 1 1.170188976 1.170188976 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000154 1 0.00000257 1 3.98E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 142509671 G A VTA1 CCDS5197.1 r.? - - intronic 23 0 0 35 3 8.6 22 4 18.2 75 13 17.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.718352941 0.718352941 1 1.255746313 1.255746313 1 0.71788189 0.71788189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000725791 1 0.00000425 1 1.16E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 147672581 G T STXBP5 CCDS5211.1 r.? - - intronic 29 0 0 40 0 0 53 4 7.5 82 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.517477876 0.517477876 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000150502 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 150048647 C A NUP43 CCDS5218.1 r.? - - intronic 17 0 0 40 0 0 45 6 13.3 91 1 1.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.917660767 0.917660767 1 0.045645669 0.045645669 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000000108 1 0.366275718 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 151564752 C G AKAP12 CCDS5229.1 r.? - - intronic 29 0 0 38 5 13.2 46 10 21.7 75 17 22.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.102588235 1.102588235 1 1.497235988 1.497235988 1 0.94196063 0.94196063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000137 1 3.38E-14 1 1.72E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 157343495 C T PTPRN2 CCDS5949.1 r.? - - intronic 23 0 0 24 2 8.3 7 3 42.9 35 15 42.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.527294118 0.527294118 1 2.101973451 2.101973451 1 0.922181102 0.922181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006413403 1 0.00000431 1 9.02E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 154134354 G T - - - - - - 29 1 3.4 46 9 19.6 51 13 25.5 88 42 47.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.637176471 1.637176471 1 1.759424779 0.879712389 2 1.979362205 0.989681102 2 NA NA 1 NA NA 1 NA NA 1 9 NA 0.135292269 1 1.82E-12 1 4.87E-19 1 4.36E-72 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 160790065 T G SLC22A3 CCDS5277.1 r.? - - intronic 38 0 0 39 0 0 45 4 8.9 65 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.614073746 0.614073746 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000791 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 161712146 A T - - - - - - 44 0 0 33 1 3 37 7 18.9 97 25 25.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.250588235 0.250588235 1 1.304044248 1.304044248 1 1.070598425 1.070598425 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.15245715 1 7.05E-10 1 2.13E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 161798681 C T PARK2 CCDS5281.1 r.? - - intronic 37 0 0 31 3 9.7 23 4 17.4 99 19 19.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.810235294 0.810235294 1 1.200548673 1.200548673 1 0.796724409 0.796724409 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000505952 1 0.00000513 1 1.4E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 162772141 G C PARK2 CCDS5281.1 r.? - - intronic 26 0 0 35 2 5.7 43 6 14 84 28 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.476117647 0.476117647 1 0.965958702 0.965958702 1 1.381818898 0.690909449 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.013332991 1 8.13E-08 1 4.34E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 10868288 T G XKR6 CCDS5978.2 r.? - - intronic 29 0 0 40 5 12.5 27 0 0 45 1 2.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 0 0 1 0.047291339 0.047291339 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.00000178 1 1 1 0.201934322 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 169474167 C T - - - - - - 34 0 0 27 1 3.7 20 5 25 44 18 40.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.309058824 0.309058824 1 1.224926254 1.224926254 1 0.879188976 0.879188976 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.126579904 1 4.55E-08 1 3.47E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 97989535 G A - - - - - - 30 0 0 27 0 0 33 5 15.2 63 0 0 191 1 0.5 403 1 0.2 332 9 2.7 0.006865288 288 2 0.7 FALSE FALSE 0 0 1 0.896755162 0.896755162 1 0 NA 0 0.014705882 0.014705882 1 0.159292035 0.159292035 1 0.021592389 NA 0 NA NA 1 0.616108565 1 0.867351745 0.00000066 0.0000557 1 0.422272368 YES 0_0 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 7 8336300 G A - - - - - - 27 0 0 31 2 6.5 33 4 12.1 66 24 36.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.477941176 0.477941176 1 0.713864307 0.713864307 1 1.146456693 1.146456693 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.010558179 1 0.0000228 1 3.04E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 12018010 C G - - - - - - 13 0 0 14 1 7.1 11 2 18.2 15 4 26.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.451058824 0.451058824 1 0.891746313 0.891746313 1 0.573944882 0.573944882 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.067769881 1 0.001334363 1 0.000000816 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 12649992 A C SCIN CCDS47545.1 r.? - - intronic 30 0 0 42 3 7.1 46 8 17.4 62 19 30.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.522058824 0.522058824 1 1.026548673 1.026548673 1 0.963779528 0.963779528 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001240292 1 8.61E-11 1 6.66E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 18051997 C T - - - - - - 33 0 0 27 2 7.4 24 5 20.8 61 13 21.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.544117647 0.544117647 1 1.227138643 1.227138643 1 0.670866142 0.670866142 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00807567 1 0.000000123 1 6.41E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 36354141 G T - - - - - - 30 0 0 29 3 10.3 29 1 3.4 46 22 47.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.654352941 0.654352941 1 0.166589971 0.166589971 1 1.027511811 1.027511811 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.000414371 1 0.135292269 1 1.68E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 49375576 G A - - - - - - 24 0 0 34 4 11.8 12 3 25 98 19 19.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.985647059 0.985647059 1 1.724926254 1.724926254 1 0.788569059 0.788569059 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000257 1 0.0000266 1 1.13E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 23329887 G T AC006039.1 ENST00000504702 r.? - - intronic 27 0 0 25 0 0 19 3 15.8 59 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.932153392 0.932153392 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000114071 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 26852739 T A SKAP2 CCDS5400.1 r.? - - intronic 29 0 0 29 4 13.8 39 3 7.7 63 16 25.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.014705882 1.014705882 1 0.454277286 0.454277286 1 0.8 0.8 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000134 1 0.000998458 1 4.48E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 52244149 G T PXDNL CCDS47855.1 r.? - - intronic 36 0 0 24 2 8.3 16 4 25 76 13 17.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.693294118 0.693294118 1 1.724926254 1.724926254 1 0.695078913 0.695078913 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.006413403 1 0.00000108 1 1.39E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 30224094 C G - - - - - - 30 0 0 23 0 0 45 4 8.9 64 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.525073746 0.525073746 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000791 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 37729420 T G GPR141 CCDS5451.1 r.? - - intronic 29 0 0 36 2 5.6 46 11 23.9 59 19 32.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.411764706 0.411764706 1 1.410029499 1.410029499 1 1.014173228 1.014173228 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.014070883 1 5.55E-16 1 2.2E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 37821245 C G EPDR1 ENST00000476620 r.? - - intronic 30 0 0 34 3 8.8 51 8 15.7 62 23 37.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.647058824 0.647058824 1 0.926253687 0.926253687 1 1.168503937 1.168503937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000666058 1 2.05E-10 1 5.9E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 38082011 C T - - - - - - 40 0 0 30 1 3.3 40 13 32.5 54 17 31.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.242647059 0.242647059 1 1.91740413 1.91740413 1 0.992125984 0.992125984 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.139615808 1 1.3E-20 1 3.02E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 38500284 T C AMPH CCDS5456.1 r.? - - intronic 42 0 0 39 3 7.7 40 8 20 57 19 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.566176471 0.566176471 1 1.179941003 1.179941003 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000998458 1 2.61E-11 1 1.01E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 38858962 T C VPS41 CCDS5457.1 r.? - - intronic 34 0 0 26 4 15.4 42 6 14.3 78 24 30.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.132352941 1.132352941 1 0.843657817 0.843657817 1 0.97007874 0.97007874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000856 1 7.02E-08 1 3.63E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 39991997 A C CDK13 CCDS5461.1 r.? - - intronic 39 0 0 26 1 3.8 44 7 15.9 53 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.279411765 0.279411765 1 0.938053097 0.938053097 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.122190858 1 2.55E-09 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 42987919 C G - - - - - - 32 0 0 25 2 8 26 5 19.2 54 17 31.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.588235294 0.588235294 1 1.132743363 1.132743363 1 0.992125984 0.992125984 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006948068 1 0.000000188 1 3.02E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 45502048 T A - - - - - - 29 0 0 26 1 3.8 39 8 20.5 71 25 35.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.279411765 0.279411765 1 1.209439528 1.209439528 1 1.108661417 1.108661417 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.122190858 1 2.09E-11 1 2.38E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 50239753 T A - - - - - - 28 0 0 36 3 8.3 31 6 19.4 70 17 24.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.610294118 0.610294118 1 1.144542773 1.144542773 1 0.765354331 0.765354331 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000788827 1 1.03E-08 1 4.68E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 51968038 C A - - - - - - 27 0 0 42 0 0 32 4 12.5 64 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.737463127 0.737463127 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000201 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 52547927 C A - - - - - - 41 0 0 31 2 6.5 33 4 12.1 56 16 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.477941176 0.477941176 1 0.713864307 0.713864307 1 0.900787402 0.900787402 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.010558179 1 0.0000228 1 5.26E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 53123596 A C - - - - - - 29 0 0 31 2 6.5 31 7 22.6 58 19 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.477941176 0.477941176 1 1.333333333 1.333333333 1 1.033070866 1.033070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.010558179 1 1.85E-10 1 1.5E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 54579627 G C - - - - - - 36 0 0 36 3 8.3 29 5 17.2 65 17 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.610294118 0.610294118 1 1.014749263 1.014749263 1 0.82519685 0.82519685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000788827 1 0.000000336 1 1.14E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 54631334 A T VSTM2A CCDS5512.2 r.? - - intronic 35 0 0 33 3 9.1 41 5 12.2 65 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.669117647 0.669117647 1 0.719764012 0.719764012 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.000609557 1 0.00000202 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 55855660 T G - - - - - - 34 0 0 30 1 3.3 27 4 14.8 62 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.242647059 0.242647059 1 0.873156342 0.873156342 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.139615808 1 0.00001 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 56552958 C A - - - - - - 29 0 0 36 1 2.8 34 5 14.7 66 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.205882353 0.205882353 1 0.867256637 0.867256637 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.165106833 1 0.000000771 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 56846074 C T - - - - - - 38 0 0 28 1 3.6 38 8 21.1 68 17 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.264705882 0.264705882 1 1.244837758 1.244837758 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.130947004 1 1.67E-11 1 2.69E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 56914665 C T - - - - - - 35 0 0 23 2 8.7 31 7 22.6 62 19 30.6 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.639705882 0.639705882 1 1.333333333 1.333333333 1 0.963779528 0.963779528 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00589844 1 1.85E-10 1 6.66E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 57700971 A C - - - - - - 28 0 0 33 2 6.1 32 5 15.6 58 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.448529412 0.448529412 1 0.920353982 0.920353982 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.011909843 1 0.000000562 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 63266968 T A - - - - - - 38 0 0 32 1 3.1 39 10 25.6 61 22 36.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.227941176 0.227941176 1 1.510324484 1.510324484 1 1.137007874 1.137007874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.14819814 1 5.44E-15 1 4.38E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 66006107 G C AC008267.2 ENST00000418858 r.? - - intronic 33 0 0 27 1 3.7 16 3 18.8 70 25 35.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.272058824 0.272058824 1 1.109144543 1.109144543 1 1.124409449 1.124409449 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.126579904 1 0.0000667 1 1.55E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 70674798 A G WBSCR17 CCDS5540.1 r.? - - intronic 32 0 0 30 3 10 29 4 13.8 62 16 25.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 0.814159292 0.814159292 1 0.812598425 0.812598425 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000458697 1 0.0000134 1 3.36E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 71874125 C T CALN1 CCDS47603.1 r.? - - intronic 33 0 0 25 5 20 20 8 40 64 14 21.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 2.359882006 2.359882006 1 0.68976378 0.68976378 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000153 1 4.66E-14 1 2.31E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 73214128 C G - - - - - - 36 0 0 27 3 11.1 34 4 11.8 77 19 24.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.696165192 0.696165192 1 0.777952756 0.777952756 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000334187 1 0.0000257 1 7.35E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 103523041 G T - - - - - - 24 0 0 39 2 5.1 30 5 16.7 71 0 0 223 0 0 252 4 1.6 314 26 8.3 4.41E-16 332 0 0 FALSE FALSE 0.375 0.375 1 0.985250737 0.985250737 1 0 NA 0 0.117647059 0.117647059 1 0.489675516 0.489675516 1 0 NA 0 NA NA 1 1 0.016387522 0.038795827 0.000000401 2.65E-23 1 1 YES 1_1 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 7 78456487 A G MAGI2 CCDS5594.1 r.? - - intronic 24 0 0 42 5 11.9 40 7 17.5 66 23 34.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.875 0.875 1 1.032448378 1.032448378 1 1.096062992 1.096062992 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000228 1 1.26E-09 1 3.38E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 79235699 G A - - - - - - 28 0 0 40 2 5 45 5 11.1 75 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.367647059 0.367647059 1 0.654867257 0.654867257 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.017193422 1 0.00000323 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 84357677 G A - - - - - - 33 0 0 33 2 6.1 49 7 14.3 56 12 21.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.448529412 0.448529412 1 0.843657817 0.843657817 1 0.674015748 0.674015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011909843 1 5.58E-09 1 1.11E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 84436279 G A - - - - - - 32 0 0 36 3 8.3 42 7 16.7 63 16 25.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.610294118 0.610294118 1 0.985250737 0.985250737 1 0.8 0.8 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000788827 1 1.81E-09 1 4.48E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 84952073 T C - - - - - - 33 0 0 30 3 10 29 9 31 60 22 36.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 1.828908555 1.828908555 1 1.155905512 1.155905512 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000458697 1 1.79E-14 1 2.81E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 85590069 G C - - - - - - 33 0 0 33 3 9.1 47 12 25.5 65 24 36.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.669117647 0.669117647 1 1.504424779 1.504424779 1 1.162204724 1.162204724 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000609557 1 1.09E-17 1 1.94E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 85829301 A G - - - - - - 18 0 0 19 4 21.1 31 4 12.9 42 9 21.4 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 1.551470588 1.551470588 1 0.761061947 0.761061947 1 0.674015748 0.674015748 1 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 0.00000228 1 0.0000177 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 86265180 A G - - - - - - 29 0 0 32 3 9.4 40 11 27.5 55 16 29.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.691176471 0.691176471 1 1.622418879 1.622418879 1 0.916535433 0.916535433 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000556213 1 9.88E-17 1 3.78E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 88330927 C T - - - - - - 28 0 0 29 1 3.4 37 9 24.3 45 13 28.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.25 0.25 1 1.433628319 1.433628319 1 0.91023622 0.91023622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.135292269 1 2.14E-13 1 7.68E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 92759438 G T SAMD9L CCDS34681.1 r.7064c>a c.? p.? 3'UTR variant 39 0 0 46 0 0 35 4 11.4 88 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.672566372 0.672566372 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000289 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 94444968 C T - - - - - - 34 0 0 33 4 12.1 45 8 17.8 54 14 25.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 1.050147493 1.050147493 1 0.815748031 0.815748031 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 7.14E-11 1 1.64E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 94862156 A G PPP1R9A CCDS34683.1 r.? - - intronic 26 0 0 38 3 7.9 45 11 24.4 71 27 38 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.580882353 0.580882353 1 1.439528024 1.439528024 1 1.196850394 1.196850394 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000925091 1 4.24E-16 1 1.77E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 96013850 T C - - - - - - 29 0 0 37 3 8.1 41 10 24.4 64 18 28.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.595588235 0.595588235 1 1.439528024 1.439528024 1 0.88503937 0.88503937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000855237 1 9.51E-15 1 1.1E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 97691809 G A - - - - - - 27 0 0 28 3 10.7 26 7 26.9 50 18 36 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.786764706 0.786764706 1 1.587020649 1.587020649 1 1.133858268 1.133858268 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000372895 1 4.73E-11 1 5.92E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 97976448 G C BAIAP2L1 CCDS34687.1 r.? - - intronic 23 0 0 35 2 5.7 40 9 22.5 82 28 34.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.419117647 0.419117647 1 1.327433628 1.327433628 1 1.074015748 1.074015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.013332991 1 4.64E-13 1 1.94E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 99258579 A G CYP3A5 CCDS5672.1 r.? - - intronic 30 0 0 31 4 12.9 39 5 12.8 69 22 31.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.948529412 0.948529412 1 0.755162242 0.755162242 1 1.004724409 1.004724409 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000177 1 0.00000156 1 1.12E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 102700026 C G FBXL13 CCDS47678.1 r.? - - intronic 23 0 0 24 1 4.2 33 9 27.3 84 30 35.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.308823529 0.308823529 1 1.610619469 1.610619469 1 1.124409449 1.124409449 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.113346489 1 6.76E-14 1 3.88E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 104035699 C A LHFPL3 ENST00000424859 r.? - - intronic 36 0 0 26 0 0 42 4 9.5 60 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.560471976 0.560471976 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000601 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 104093153 C G LHFPL3 ENST00000424859 r.? - - intronic 34 0 0 37 3 8.1 40 8 20 78 30 38.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.595588235 0.595588235 1 1.179941003 1.179941003 1 1.212598425 1.212598425 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000855237 1 2.61E-11 1 2.54E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 104165209 G C LHFPL3 ENST00000424859 r.? - - intronic 36 0 0 34 3 8.8 43 6 14 72 24 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.647058824 0.647058824 1 0.825958702 0.825958702 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000666058 1 8.13E-08 1 3.76E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 68030971 C T CSPP1 CCDS47870.1 r.1740-7c>u c.1709-7C>T p.? splice region 29 0 0 38 5 13.2 36 4 11.1 91 24 26.4 9 0 0 426 56 13.1 623 90 14.4 1.25E-72 702 151 21.5 TRUE TRUE 1.102588235 1.102588235 1 0.765867257 0.765867257 1 1.130617479 1.130617479 1 1.094235294 1.094235294 1 0.993557522 0.993557522 1 0.920768023 0.920768023 1 9 12 1 1 0.00000137 1.27E-59 0.0000324 1.43E-98 2.58E-34 4.42E-192 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 106379035 T A - - - - - - 18 0 0 25 1 4 36 6 16.7 57 20 35.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.294117647 0.294117647 1 0.985250737 0.985250737 1 1.105511811 1.105511811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.117779757 1 2.68E-08 1 9.67E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 107284742 A T - - - - - - 27 0 0 35 3 8.6 38 7 18.4 67 22 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.632352941 0.632352941 1 1.085545723 1.085545723 1 1.033070866 1.033070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000725791 1 8.61E-10 1 5.21E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 108770309 G A - - - - - - 34 0 0 28 4 14.3 30 8 26.7 72 18 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 1.575221239 1.575221239 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000116 1 2.07E-12 1 1.22E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 109089150 G T - - - - - - 33 0 0 32 3 9.4 41 6 14.6 65 19 29.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.691176471 0.691176471 1 0.861356932 0.861356932 1 0.919685039 0.919685039 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000556213 1 6.05E-08 1 1.89E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 77351855 G T - - - - - - 31 0 0 40 3 7.5 34 3 8.8 77 26 33.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.626470588 0.626470588 1 0.607174041 0.607174041 1 1.447532985 0.723766492 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001075403 1 0.000666058 1 2.7E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 111566701 A C DOCK4 CCDS47688.1 r.? - - intronic 15 0 0 23 8 34.8 12 4 33.3 50 15 30 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.558823529 2.558823529 1 1.96460177 1.96460177 1 0.94488189 0.94488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.79E-13 1 0.0000003 1 5.83E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 111566703 A C DOCK4 CCDS47688.1 r.? - - intronic 13 0 0 24 8 33.3 13 5 38.5 48 15 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.448529412 2.448529412 1 2.271386431 2.271386431 1 0.982677165 0.982677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.68E-13 1 3.89E-09 1 2.86E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 113988275 A C FOXP2 ENST00000324462 r.? - - intronic 29 0 0 27 0 0 29 3 10.3 68 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.607669617 0.607669617 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000414371 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 96774302 C T - - - - - - 37 0 0 41 3 7.3 35 9 25.7 108 29 26.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.682764706 0.682764706 1 2.030224189 1.015112094 2 1.385244094 0.692622047 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001155993 1 1.23E-13 1 2.13E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 119405021 G T - - - - - - 27 0 0 26 3 11.5 33 4 12.1 56 16 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.845588235 0.845588235 1 0.713864307 0.713864307 1 0.900787402 0.900787402 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000298167 1 0.0000228 1 5.26E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 119550750 T C - - - - - - 37 0 0 40 4 10 42 4 9.5 75 18 24 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 0.560471976 0.560471976 1 0.755905512 0.755905512 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000495 1 0.0000601 1 2.78E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 119817862 G A - - - - - - 33 0 0 47 4 8.5 34 9 26.5 60 25 41.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.625 0.625 1 1.563421829 1.563421829 1 1.313385827 1.313385827 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000939 1 9.15E-14 1 1.31E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 121298135 C T - - - - - - 27 0 0 25 1 4 27 5 18.5 64 25 39.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.294117647 0.294117647 1 1.091445428 1.091445428 1 1.231496063 1.231496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.117779757 1 0.00000023 1 9.9E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 122517643 G A CADPS2 CCDS47691.1 r.? - - intronic 22 0 0 37 0 0 40 4 10 69 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.589970501 0.589970501 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000495 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 125685905 A T ENSG00000230519 ENST00000420567 r.? - - intronic 37 0 0 35 0 0 39 4 10.3 68 18 26.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.607669617 0.607669617 1 0.834645669 0.834645669 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 1 1 0.0000447 1 3.83E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 126083405 C T GRM8 CCDS5794.1 r.? - - intronic 33 0 0 25 2 8 33 5 15.2 73 27 37 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.588235294 0.588235294 1 0.896755162 0.896755162 1 1.165354331 1.165354331 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006948068 1 0.00000066 1 4.45E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 126382236 G C GRM8 CCDS5794.1 r.? - - intronic 40 0 0 29 1 3.4 41 8 19.5 67 5 7.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.25 0.25 1 1.267853743 1.267853743 1 0.236220472 0.236220472 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.135292269 1 3.22E-11 1 0.0000233 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 126382269 G C GRM8 CCDS5794.1 r.? - - intronic 40 0 0 31 1 3.2 41 4 9.8 62 5 8.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.235294118 0.235294118 1 0.637177779 0.637177779 1 0.25511811 0.25511811 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.143917729 1 0.0000546 1 0.000016 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 126383105 G C GRM8 CCDS5794.1 r.? - - intronic 31 0 0 33 2 6.1 39 5 12.8 84 5 6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.448529412 0.448529412 1 0.832232201 0.832232201 1 0.188976378 0.188976378 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.011909843 1 0.00000156 1 0.0000695 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 126383840 G T GRM8 CCDS5794.1 r.? - - intronic 30 0 0 36 1 2.8 40 4 10 71 1 1.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.205882353 0.205882353 1 0.650181407 0.650181407 1 0.044094488 0.044094488 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.165106833 1 0.0000495 1 0.299450652 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 126850220 G A GRM8 CCDS5794.1 r.? - - intronic 40 0 0 33 3 9.1 47 5 10.6 81 5 6.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.669117647 0.669117647 1 0.689192291 0.689192291 1 0.195275591 0.195275591 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.000609557 1 0.00000402 1 0.0000584 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 127017977 T A ZNF800 CCDS5795.1 r.? - - intronic 35 0 0 33 2 6.1 55 7 12.7 77 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.448529412 0.448529412 1 0.825730387 0.825730387 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.011909843 1 1.28E-08 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 127086325 G T - - - - - - 29 0 0 35 2 5.7 36 8 22.2 66 17 25.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.419117647 0.419117647 1 1.443402723 1.443402723 1 0.812598425 0.812598425 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.013332991 1 1.04E-11 1 1.52E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 128156114 T C - - - - - - 24 0 0 46 3 6.5 20 6 30 82 34 41.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.477941176 0.477941176 1 1.950544221 1.950544221 1 1.307086614 1.307086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001615827 1 5.7E-10 1 5.98E-56 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 129868577 C A - - - - - - 30 0 0 21 3 14.3 41 4 9.8 87 27 31 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 0.637177779 0.637177779 1 0.976377953 0.976377953 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000155401 1 0.0000546 1 1.3E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 129964090 T C CPA4 CCDS5818.1 r.? - - downstream 40 0 0 42 4 9.5 52 13 25 80 26 32.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.698529412 0.698529412 1 1.625453517 1.014571082 1.602109054 1.023622047 1.023622047 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000601 1 6.47E-19 1 8.83E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 130011069 A T CPA5 CCDS5819.1 r.? - - downstream 33 0 0 35 1 2.9 23 3 13 99 34 34.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.213235294 0.213235294 1 0.845235829 0.845235829 1 1.080314961 1.080314961 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.16091139 1 0.000205387 1 1.63E-52 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 130780878 A T - - - - - - 18 0 0 34 0 0 46 4 8.7 78 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.565657824 0.565657824 1 0 0 1 NA NA 0 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000862 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 133306657 C A EXOC4 CCDS5829.1 r.? - - intronic 24 0 0 42 4 9.5 45 7 15.6 81 3 3.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.698529412 0.698529412 1 1.014282995 1.014282995 1 0.116535433 0.116535433 1 NA NA 0 NA NA 1 NA NA 1 7 NA 1 1 0.0000601 1 0.000000003 1 0.007979008 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 133336760 G A EXOC4 CCDS5829.1 r.? - - intronic 32 0 0 35 1 2.9 35 7 20 71 10 14.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.213235294 0.213235294 1 1.300362814 1.300362814 1 0.444094488 0.444094488 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.16091139 1 4.65E-10 1 3.42E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 133690741 G C EXOC4 CCDS5829.1 r.? - - intronic 25 0 0 23 2 8.7 36 5 13.9 71 17 23.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.639705882 0.639705882 1 0.903752156 0.903752156 1 0.752755906 0.752755906 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00589844 1 0.00000104 1 6.12E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 133835081 G A LRGUK CCDS5830.1 r.? - - intronic 39 0 0 43 4 9.3 21 7 33.3 61 15 24.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.683823529 0.683823529 1 2.165104085 1.351408682 1.602109054 0.77480315 0.77480315 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000066 1 8.54E-12 1 1.73E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 135001446 G A - - - - - - 41 0 0 34 0 0 20 4 20 69 4 5.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.300362814 1.300362814 1 0.182677165 0.182677165 1 NA NA 0 NA NA 1 NA NA 1 7 NA 1 1 1 1 0.00000284 1 0.000416985 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 131976893 C G - - - - - - 35 0 0 38 0 0 20 3 15 57 0 0 184 0 0 36 0 0 49 4 8.2 0.001480134 46 0 0 FALSE FALSE 0 0 1 0.884955752 0.884955752 1 0 NA 0 0 0 1 0.483775811 0.483775811 1 0 NA 0 NA NA 1 1 1 1 0.0001337 0.000110643 1 1 YES 0_0 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 13 24133010 A G - - - - - - 37 0 0 21 3 14.3 29 5 17.2 63 0 0 290 0 0 197 17 8.6 183 23 12.6 2.13E-18 211 0 0 TRUE TRUE 0.908470588 0.908470588 1 0.842749263 0.842749263 1 0 0 1 0.546352941 0.546352941 1 0.617362832 0.617362832 1 0 0 1 7 7 1 1 0.000155401 4.56E-16 0.000000336 5.5E-25 1 1 YES 1_1 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 7 136256652 A C - - - - - - 36 0 0 37 1 2.7 42 6 14.3 64 2 3.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.198529412 0.198529412 1 0.929759412 0.929759412 1 0.097637795 0.097637795 1 NA NA 0 NA NA 1 NA NA 1 7 NA 1 1 0.169281299 1 7.02E-08 1 0.041085601 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 136409469 T C - - - - - - 35 0 0 36 3 8.3 46 8 17.4 63 17 27 0 0 NA 0 0 NA 0 0 NA 1 1 0 0 TRUE FALSE 0.610294118 0.610294118 1 1.131315648 1.131315648 1 0.850393701 0.850393701 1 NA NA 0 NA NA 1 0 0 1 9 NA 1 1 0.000788827 1 8.61E-11 1 6.22E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 137950026 A G - - - - - - 37 0 0 28 3 10.7 28 4 14.3 72 4 5.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.786764706 0.786764706 1 0.929759412 0.929759412 1 0.176377953 0.176377953 1 NA NA 0 NA NA 1 NA NA 1 7 NA 1 1 0.000372895 1 0.0000116 1 0.000490365 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 140479911 T C BRAF CCDS5863.1 r.? - - intronic 27 0 0 28 1 3.6 26 5 19.2 52 2 3.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.264705882 0.264705882 1 1.248348301 1.248348301 1 0.119685039 0.119685039 1 NA NA 0 NA NA 1 NA NA 1 7 NA 1 1 0.130947004 1 0.000000188 1 0.028101652 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 144449339 A T TPK1 CCDS5888.1 r.? - - intronic 21 0 0 40 3 7.5 45 7 15.6 63 20 31.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.551470588 0.551470588 1 1.014282995 1.014282995 1 0.998425197 0.998425197 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.001075403 1 0.000000003 1 1.05E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 144811810 G A - - - - - - 31 0 0 28 1 3.6 33 5 15.2 59 0 0 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.264705882 0.264705882 1 0.988275739 0.988275739 1 0 0 1 NA NA 0 NA NA 1 NA NA 1 3 NA 1 1 0.130947004 1 0.00000066 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 145862183 C T CNTNAP2 CCDS5889.1 r.? - - intronic 38 0 0 37 3 8.1 42 9 21.4 64 20 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.595588235 0.595588235 1 1.391388211 1.391388211 1 0.982677165 0.982677165 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000855237 1 7.51E-13 1 1.52E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 145973867 T C CNTNAP2 CCDS5889.1 r.? - - intronic 28 0 0 36 1 2.8 38 4 10.5 75 5 6.7 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 TRUE FALSE 0.205882353 0.205882353 1 0.682690477 0.682690477 1 0.211023622 0.211023622 1 NA NA 0 NA NA 1 0 0 1 7 NA 1 1 0.165106833 1 0.0000403 1 0.0000403 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146160906 T A CNTNAP2 CCDS5889.1 r.? - - intronic 36 0 0 28 2 7.1 43 6 14 83 20 24.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.522058824 0.522058824 1 0.91025397 0.91025397 1 0.759055118 0.759055118 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.008668191 1 8.13E-08 1 5.78E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146330654 C G CNTNAP2 CCDS5889.1 r.? - - intronic 43 0 0 49 8 16.3 26 5 19.2 81 26 32.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.198529412 1.198529412 1 1.248348301 1.248348301 1 1.011023622 1.011023622 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 1.47E-10 1 0.000000188 1 1.29E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146337828 C G CNTNAP2 CCDS5889.1 r.? - - intronic 32 0 0 42 2 4.8 41 7 17.1 88 27 30.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.352941176 0.352941176 1 1.111810206 1.111810206 1 0.966929134 0.966929134 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.018854633 1 1.51E-09 1 1.86E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 34527862 A G RFC3 CCDS45025.1 r.? - - intronic 36 0 0 27 1 3.7 39 6 15.4 53 0 0 80 0 0 181 9 5 253 29 11.5 1.19E-21 178 0 0 TRUE FALSE 0.235058824 0.235058824 1 0.754554572 0.754554572 1 0 0 1 0.317647059 0.317647059 1 0.563466077 0.563466077 1 0 NA 0 3 NA 1 1 0.126579904 0.000000423 4.43E-08 6.58E-30 1 1 YES 0_1 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 13 39335508 G C FREM2 CCDS31960.1 r.? - - intronic 35 0 0 32 2 6.2 43 6 14 46 0 0 144 0 0 186 10 5.4 232 30 12.9 6.88E-24 174 2 1.1 TRUE TRUE 0.393882353 0.393882353 1 0.685958702 0.685958702 1 0 0 1 0.343058824 0.343058824 1 0.632061947 0.632061947 1 0.024958631 0.024958631 1 7 7 1 1 0.011224977 4.69E-08 8.13E-08 1.71E-32 1 0.216440816 YES 1_1 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 7 146341625 G C CNTNAP2 CCDS5889.1 r.? - - intronic 34 0 0 37 3 8.1 50 5 10 81 17 21 0 0 NA 1 0 0 1 0 0 1 0 0 NA TRUE FALSE 0.595588235 0.595588235 1 0.650181407 0.650181407 1 0.661417323 0.661417323 1 0 0 1 0 0 1 NA NA 0 9 NA 1 1 0.000855237 1 0.00000549 1 7.24E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 64030109 T G - - - - - - 32 0 0 29 2 6.9 37 11 29.7 59 16 27.1 81 0 0 298 24 8.1 462 63 13.6 8.65E-50 421 127 30.2 TRUE TRUE 0.507352941 0.507352941 1 1.752212389 1.752212389 1 0.822150438 0.822150438 1 0.595588235 0.595588235 1 0.802359882 0.802359882 1 0.916197167 0.916197167 1 9 11 1 1 0.009279585 2.39E-21 3.7E-17 6.77E-68 1.37E-23 5.09E-183 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 13 64030124 G C - - - - - - 35 0 0 30 2 6.7 38 11 28.9 60 15 25 74 0 0 276 18 6.5 459 63 13.7 5.73E-50 401 117 29.2 TRUE TRUE 0.492647059 0.492647059 1 1.705014749 1.705014749 1 0.758441364 0.758441364 1 0.477941176 0.477941176 1 0.808259587 0.808259587 1 0.885859513 0.885859513 1 9 11 1 1 0.009909649 8.6E-15 5.19E-17 4.42E-68 1.31E-21 8.88E-167 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 7 146342641 G C CNTNAP2 CCDS5889.1 r.? - - intronic 36 0 0 36 4 11.1 36 5 13.9 85 21 24.7 2 0 0 6 1 16.7 14 0 0 1 7 0 0 TRUE FALSE 0.816176471 0.816176471 1 0.903752156 0.903752156 1 0.777952756 0.777952756 1 1.227941176 1.227941176 1 0 0 1 0 NA 0 9 NA 1 1 0.0000324 0.029627491 0.00000104 1 1.53E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 44741172 C T OGDH CCDS34627.1 r.2632c>u c.2590C>T p.R864C missense 35 0 0 30 5 16.7 25 3 12 76 32 42.1 251 1 0.4 111 6 5.4 136 22 16.2 4.28E-20 118 27 22.9 TRUE TRUE 1.227941176 1.227941176 1 0.707964602 0.707964602 1 1.325984252 1.325984252 1 0.397058824 0.397058824 1 0.955752212 0.955752212 1 0.721259843 0.721259843 1 9 8 1 0.715820159 0.000000401 0.0000226 0.00026475 1.77E-26 5.07E-53 1.53E-36 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 9 8319832 T C PTPRD CCDS43786.1 r.6425a>g c.5669A>G p.E1890G missense 36 0 0 46 0 0 49 0 0 106 23 21.7 274 0 0 189 0 0 315 0 0 1 389 43 11.1 TRUE FALSE 0 0 1 0 0 1 1.246567593 1.246567593 1 0 NA 0 0 0 1 0.637645174 1.071771954 0.594944822 2 NA 1 1 1 1 1 1 8.99E-31 7.24E-43 YES 0_0 0_0 1_1 somatic custom.pulldown.HiSeq PD9777b 7 146817265 A T CNTNAP2 CCDS5889.1 r.? - - intronic 32 0 0 49 3 6.1 48 9 18.8 70 16 22.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.448529412 0.448529412 1 1.222341045 1.222341045 1 0.721259843 0.721259843 1 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 0.001939399 1 2.75E-12 1 2.93E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 147675666 G T CNTNAP2 CCDS5889.1 r.? - - intronic 30 0 0 33 1 3 28 5 17.9 53 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.190588235 0.190588235 1 0.877047198 0.877047198 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.15245715 1 0.000000279 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 154143550 T C DPP6 ENST00000404039 r.? - - intronic 36 0 0 19 4 21.1 30 6 20 52 24 46.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.340470588 1.340470588 1 0.979941003 0.979941003 1 0.99311811 0.99311811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000228 1 8.37E-09 1 2.22E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 154455497 G A DPP6 ENST00000404039 r.? - - intronic 15 0 0 21 1 4.8 17 4 23.5 40 10 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.304941176 0.304941176 1 1.151430678 1.151430678 1 0.537401575 0.537401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.099912572 1 0.00000141 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 156791450 G A - - - - - - 34 0 0 29 3 10.3 27 6 22.2 49 26 53.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.654352941 0.654352941 1 1.087734513 1.087734513 1 1.141440945 1.141440945 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000414371 1 4.23E-09 1 7.78E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 157521594 G T PTPRN2 CCDS5949.1 r.? - - intronic 34 0 0 24 0 0 19 3 15.8 40 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.774153392 0.774153392 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000114071 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 211850 A C - - - - - - 36 0 0 45 4 8.9 40 6 15 60 24 40 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.565411765 0.565411765 1 0.734955752 0.734955752 1 0.85984252 0.85984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000791 1 5.18E-08 1 1.81E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 1517324 C T DLGAP2 CCDS47760.1 r.? - - intronic 29 0 0 21 0 0 16 4 25 47 1 2.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.224926254 1.224926254 1 0.045141732 0.045141732 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000108 1 0.209895027 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 5258544 T C - - - - - - 29 0 0 21 1 4.8 35 6 17.1 47 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.304941176 0.304941176 1 0.837849558 0.837849558 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.099912572 1 2.24E-08 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 33771267 A T - - - - - - 29 0 0 26 1 3.8 41 5 12.2 42 14 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.241411765 0.241411765 1 0.597764012 0.597764012 1 0.715818898 0.715818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.122190858 1 0.00000202 1 2.83E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 35598323 T C UNC5D CCDS6093.2 r.? - - intronic 29 0 0 31 6 19.4 29 6 20.7 40 22 55 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.232470588 1.232470588 1 1.014238938 1.014238938 1 1.182283465 1.182283465 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.03E-08 1 6.72E-09 1 2.48E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 37860228 G T - - - - - - 29 0 0 36 1 2.8 29 9 31 54 20 37 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.177882353 0.177882353 1 1.518908555 1.518908555 1 0.795354331 0.795354331 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.165106833 1 1.79E-14 1 2.61E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 37860229 G T - - - - - - 30 0 0 34 1 2.9 29 9 31 53 20 37.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.184235294 0.184235294 1 1.518908555 1.518908555 1 0.810401575 0.810401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.156694864 1 1.79E-14 1 1.65E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 38511674 T C - - - - - - 33 0 0 28 2 7.1 38 4 10.5 44 20 45.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.451058824 0.451058824 1 0.514469027 0.514469027 1 0.978070866 0.978070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.008668191 1 0.0000403 1 1.5E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 42413325 G T - - - - - - 38 0 0 30 2 6.7 20 3 15 47 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.559647059 0.559647059 1 1.034955752 1.034955752 1 0 NA 0 NA NA 1 NA NA 1 NA NA 0 NA NA 1 1 0.009909649 1 0.0001337 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 42476974 C A - - - - - - 33 0 0 35 0 0 17 3 17.6 46 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 1.214348083 1.214348083 1 0 NA 0 NA NA 1 NA NA 1 NA NA 0 NA NA 1 1 1 1 0.0000807 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 49163351 T C - - - - - - 28 0 0 32 4 12.5 48 7 14.6 77 19 24.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.044117647 1.044117647 1 1.007356932 1.007356932 1 1.004002874 1.004002874 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000201 1 4.81E-09 1 7.35E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 19416829 T C SF4 CCDS12399.1 r.369a>g c.367A>G p.K123E missense 20 0 0 22 0 0 5 0 0 51 9 17.6 102 0 0 7 2 28.6 18 1 5.6 0.165486239 22 6 27.3 FALSE FALSE 0 0 1 0 NA 0 0.754477567 0.754477567 1 2.388941176 2.388941176 1 0.274383481 NA 0 1.17029759 1.17029759 1 NA NA 1 1 1 0.000516315 1 0.086275114 4.92E-12 1.09E-09 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 50803810 C A - - - - - - 31 0 0 40 9 22.5 48 17 35.4 79 32 40.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.879411765 0.939705882 2 2.442495575 1.221247788 2 1.64623953 0.823119765 2 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 4.64E-13 1 2.8E-27 1 2.44E-52 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 51318259 T A SNTG1 CCDS6147.1 r.? - - intronic 40 0 0 34 3 8.8 57 8 14 84 24 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735058824 0.735058824 1 0.965958702 0.965958702 1 1.162529644 1.162529644 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000666058 1 5.19E-10 1 2.87E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 53958398 C A - - - - - - 34 0 0 34 4 11.8 42 4 9.5 82 19 23.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.985647059 0.985647059 1 0.655471976 0.655471976 1 0.94303104 0.94303104 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000257 1 0.0000601 1 2.79E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 55513610 T A RP1 ENST00000427058 r.? - - intronic 31 0 0 33 2 6.1 41 5 12.2 95 20 21.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.509529412 0.509529412 1 0.841764012 0.841764012 1 0.857670471 0.857670471 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.011909843 1 0.00000202 1 1.14E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 55613501 T A RP1 ENST00000427058 r.? - - intronic 38 0 0 46 4 8.7 56 7 12.5 91 15 16.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.726705882 0.726705882 1 0.862463127 0.862463127 1 0.670690179 0.73284843 0.915182665 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000862 1 1.46E-08 1 1.17E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 55899047 C A - - - - - - 30 0 0 40 3 7.5 19 4 21.1 79 21 26.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.626470588 0.626470588 1 1.455837758 1.455837758 1 1.081233864 1.081233864 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.001075403 1 0.00000228 1 2.69E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 60850113 C G - - - - - - 41 0 0 50 0 0 55 5 9.1 69 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.627873156 0.627873156 1 0 0 1 NA NA 0 NA NA 1 NA NA 0 3 NA 1 1 1 1 0.00000883 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 60868224 A T - - - - - - 22 0 0 27 2 7.4 43 6 14 90 22 24.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.618117647 0.618117647 1 0.965958702 0.965958702 1 1.04496464 1.04496464 1 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 0.00807567 1 8.13E-08 1 9.17E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 62766615 A G - - - - - - 25 0 0 28 3 10.7 44 4 9.1 90 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.893764706 0.893764706 1 0.627873156 0.627873156 1 0 0 1 NA NA 0 NA NA 1 NA NA 0 7 NA 1 1 0.000372895 1 0.0000723 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 66228119 G T - - - - - - 28 0 0 37 5 13.5 33 4 12.1 103 18 17.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.127647059 1.127647059 1 0.834864307 0.834864307 1 0.749462344 0.749462344 1 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 0.00000119 1 0.0000228 1 1.4E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 68317703 C T AC027006.1 ENST00000501209 r.? - - intronic 28 0 0 44 4 9.1 54 13 24.1 72 18 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.760117647 0.760117647 1 1.662828909 0.831414454 2 1.070660492 1.070660492 1 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 0.0000723 1 1.12E-18 1 1.22E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 69769766 T G - - - - - - 23 0 0 41 4 9.8 39 7 17.9 101 32 31.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.818588235 0.818588235 1 1.235047198 1.235047198 1 1.357597504 1.198194851 1.133035668 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 0.0000546 1 1.04E-09 1 3.49E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 71227469 G C NCOA2 CCDS47872.1 r.? - - intronic 37 0 0 42 4 9.5 55 4 7.3 86 17 19.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.793529412 0.793529412 1 0.503678466 0.503678466 1 0.84796311 0.84796311 1 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 0.0000601 1 0.000173903 1 2.19E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 71945958 C T - - - - - - 37 0 0 55 3 5.5 41 5 12.2 91 29 31.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.459411765 0.459411765 1 0.841764012 0.841764012 1 1.366162788 1.20575444 1.133035668 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.002700822 1 0.00000202 1 6.7E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 74417962 C A STAU2 ENST00000343268 r.? - - intronic 28 0 0 42 4 9.5 39 5 12.8 98 26 26.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.793529412 0.793529412 1 0.883162242 0.883162242 1 1.134900121 1.134900121 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000601 1 0.00000156 1 4.02E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 76374876 A G HNF4G ENST00000354370 r.? - - intronic 34 0 0 51 3 5.9 36 5 13.9 97 16 16.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.492823529 0.492823529 1 0.959058997 0.959058997 1 0.706635925 0.706635925 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.002175924 1 0.00000104 1 8.26E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 77109304 C G - - - - - - 29 0 0 44 6 13.6 50 8 16 86 29 33.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.136 1.136 1 1.103952802 1.103952802 1 1.443250343 1.273790741 1.133035668 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.37E-08 1 1.74E-10 1 9.55E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 78237278 G A - - - - - - 33 0 0 39 5 12.8 42 8 19 85 42 49.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.069176471 1.069176471 1 1.310943953 1.310943953 1 2.115625132 0.991837672 2.133035668 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00000156 1 3.96E-11 1 6.11E-73 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 79873590 C T - - - - - - 24 0 0 25 1 4 31 8 25.8 96 25 26 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.334117647 0.334117647 1 1.780123894 1.780123894 1 1.113486912 1.113486912 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.117779757 1 2.78E-12 1 1.59E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 82808152 G A - - - - - - 31 0 0 48 4 8.3 53 10 18.9 86 27 31.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.693294118 0.693294118 1 1.304044248 1.304044248 1 1.344749578 1.344749578 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000102016 1 1.57E-13 1 8.99E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 83798089 A T - - - - - - 34 0 0 33 3 9.1 25 4 16 83 21 25.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.760117647 0.760117647 1 1.103952802 1.103952802 1 1.083508418 1.083508418 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000609557 1 0.00000727 1 8.7E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 84095320 G T - - - - - - 36 0 0 33 1 3 49 6 12.2 81 16 19.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.250588235 0.250588235 1 0.841764012 0.841764012 1 0.84796311 0.84796311 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.15245715 1 0.000000182 1 3.77E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 84671653 C T - - - - - - 25 0 0 33 2 6.1 44 8 18.2 75 16 21.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.509529412 0.509529412 1 1.255746313 1.255746313 1 0.912202739 0.912202739 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.011909843 1 5.9E-11 1 9.88E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 87081600 G A PSKH2 CCDS6240.1 r.? - - intronic 29 0 0 21 1 4.8 17 4 23.5 54 19 35.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.400941176 0.400941176 1 1.621430678 1.621430678 1 1.507489973 0.753744986 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.099912572 1 0.00000141 1 2.97E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 72191496 C G SIPA1L1 CCDS9807.1 r.4969c>g c.4621C>G p.L1541V missense 36 0 0 36 7 19.4 30 2 6.7 72 28 38.9 159 0 0 81 11 13.6 90 13 14.4 8.02E-12 74 19 25.7 TRUE TRUE 1.232470588 1.232470588 1 0.328280236 0.328280236 1 0.83619685 0.83619685 1 0.864 0.864 1 0.705557522 0.705557522 1 0.552448819 0.552448819 1 9 8 1 1 5.74E-10 4.29E-13 0.009909649 1.4E-15 2.27E-45 3.14E-27 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 8 88541131 T C - - - - - - 42 0 0 35 3 8.6 42 5 11.9 87 16 18.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.718352941 0.718352941 1 0.821064897 0.821064897 1 0.788006122 0.788006122 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000725791 1 0.00000228 1 1.29E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 89608760 G T - - - - - - 42 0 0 35 1 2.9 52 8 15.4 93 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.242235294 0.242235294 1 1.062554572 1.062554572 1 0 0 1 NA NA 0 NA NA 1 NA NA 1 3 NA 1 1 0.16091139 1 2.42E-10 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 89770784 G A - - - - - - 41 0 0 42 4 9.5 55 8 14.5 94 24 25.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.793529412 0.793529412 1 1.000457227 1.000457227 1 1.092073702 1.092073702 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000601 1 3.86E-10 1 6.23E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 90159691 A C - - - - - - 34 0 0 48 3 6.2 48 4 8.3 105 17 16.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.517882353 0.517882353 1 0.572675516 0.572675516 1 0.693787999 0.693787999 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.001827434 1 0.000102016 1 8.25E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 91264902 T A - - - - - - 47 0 0 45 4 8.9 43 10 23.3 101 25 24.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.743411765 0.743411765 1 1.607631268 1.607631268 1 1.062095208 1.062095208 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000791 1 1.61E-14 1 6.66E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 91920722 A G NECAB1 CCDS47889.1 r.? - - intronic 37 0 0 40 2 5 43 5 11.6 84 20 23.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.417647059 0.417647059 1 0.800365782 0.800365782 1 1.019268788 1.019268788 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.017193422 1 0.00000257 1 7.54E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 92726714 G T - - - - - - 39 0 0 39 4 10.3 54 10 18.5 97 24 24.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.963352941 0.963352941 1 1.276445428 1.276445428 1 1.271952756 1.271952756 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000447 1 1.91E-13 1 1.46E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 93067937 A T RUNX1T1 CCDS47891.1 r.? - - intronic 40 0 0 50 2 4 55 4 7.3 113 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.374117647 0.374117647 1 0.576678466 0.576678466 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.026131524 1 0.000173903 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 96004885 A T C8orf38 ENST00000396113 r.? - - intronic 26 0 0 43 5 11.6 44 4 9.1 114 22 19.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.084941176 1.084941176 1 0.718873156 0.718873156 1 0.993874016 0.993874016 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000257 1 0.0000723 1 2.79E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 99246280 C G NIPAL2 CCDS6278.1 r.? - - intronic 37 0 0 45 2 4.4 52 10 19.2 121 21 17.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.411529412 0.411529412 1 1.516743363 1.516743363 1 0.896031496 0.896031496 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.021467209 1 1.28E-13 1 5.02E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 99883637 G A ENSG00000104375 ENST00000354930 r.? - - intronic 36 0 0 51 4 7.8 52 6 11.5 110 15 13.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.729529412 0.729529412 1 0.908466077 0.908466077 1 0.700346457 0.700346457 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000129466 1 0.000000261 1 2.3E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 101420664 G C - - - - - - 27 0 0 56 3 5.4 58 6 10.3 118 21 17.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.505058824 0.505058824 1 0.813669617 0.813669617 1 0.916629921 0.916629921 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00284314 1 0.000000506 1 2.86E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 101877328 C G - - - - - - 41 0 0 50 0 0 71 5 7 125 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.552979351 0.552979351 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000309 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 102054109 G C - - - - - - 31 0 0 47 3 6.4 20 7 35 101 18 17.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.598588235 0.598588235 1 2.764896755 0.921632252 3 0.916629921 0.916629921 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001719595 1 5.72E-12 1 9.6E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 103191956 T G - - - - - - 31 0 0 44 3 6.8 61 5 8.2 93 23 24.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.636 0.636 1 0.647775811 0.647775811 1 1.271952756 1.271952756 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00142027 1 0.0000147 1 3.18E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 103903216 C G - - - - - - 40 0 0 37 3 8.1 45 10 22.2 112 25 22.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757588235 0.757588235 1 1.753734513 0.876867257 2 1.148362205 1.148362205 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000855237 1 2.66E-14 1 1.18E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 104425184 G A SLC25A32 CCDS6300.1 r.? - - intronic 27 0 0 45 3 6.7 57 5 8.8 108 20 18.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.626647059 0.626647059 1 0.695174041 0.695174041 1 0.952677165 0.952677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001516071 1 0.0000105 1 1.84E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 104766056 T C RIMS2 ENST00000504942 r.? - - intronic 30 0 0 40 2 5 64 9 14.1 109 17 15.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.467647059 0.467647059 1 1.113858407 1.113858407 1 0.803338583 0.803338583 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.017193422 1 4.2E-11 1 1.61E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 105324849 G A - - - - - - 30 0 0 43 1 2.3 66 8 12.1 86 21 24.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.215117647 0.215117647 1 0.955864307 0.955864307 1 1.256503937 1.256503937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.193893409 1 1.73E-09 1 2.01E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 105576619 A T LRP12 CCDS6303.1 r.? - - intronic 34 0 0 38 2 5.3 55 4 7.3 114 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.495705882 0.495705882 1 0.576678466 0.576678466 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.015598339 1 0.000173903 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 106491760 G C ZFPM2 CCDS47908.1 r.? - - intronic 34 0 0 34 2 5.9 41 10 24.4 97 14 14.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.551823529 0.551823529 1 1.927528024 0.963764012 2 0.741543307 0.741543307 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.012612579 1 9.51E-15 1 1.16E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 109817919 T G - - - - - - 34 0 0 43 0 0 47 4 8.5 116 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.671474926 0.671474926 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000939 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 111263251 T C - - - - - - 36 0 0 49 3 6.1 42 4 9.5 99 19 19.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.570529412 0.570529412 1 0.750471976 0.750471976 1 0.988724409 0.988724409 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001939399 1 0.0000601 1 1.4E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 111490246 T A - - - - - - 26 0 0 45 2 4.4 53 4 7.5 103 22 21.4 0 0 NA 0 0 NA 2 0 0 1 0 0 NA TRUE FALSE 0.411529412 0.411529412 1 0.592477876 0.592477876 1 1.102015748 1.102015748 1 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 0.021467209 1 0.000150502 1 2.46E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 113165759 C G - - - - - - 26 0 0 34 3 8.8 43 5 11.6 104 12 11.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.823058824 0.823058824 1 0.916365782 0.916365782 1 0.592204724 0.592204724 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000666058 1 0.00000257 1 2.76E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 113614541 C T CSMD3 CCDS6315.1 r.? - - intronic 32 0 0 34 1 2.9 43 6 14 96 24 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.271235294 0.271235294 1 1.105958702 1.105958702 1 1.287401575 1.287401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.156694864 1 8.13E-08 1 1.1E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 114157668 T A CSMD3 CCDS6315.1 r.? - - intronic 26 0 0 42 2 4.8 50 6 12 91 18 19.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.448941176 0.448941176 1 0.947964602 0.947964602 1 1.019622047 1.019622047 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.018854633 1 0.000000206 1 1.27E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 115624502 G C - - - - - - 27 0 0 35 2 5.7 36 5 13.9 97 17 17.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.533117647 0.533117647 1 1.098058997 1.098058997 1 0.901181102 0.901181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.013332991 1 0.00000104 1 1.97E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 115664477 G A - - - - - - 28 0 0 42 3 7.1 63 10 15.9 111 19 17.1 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 TRUE FALSE 0.664058824 0.664058824 1 1.256053097 1.256053097 1 0.880582677 0.880582677 1 NA NA 1 NA NA 1 0 0 1 9 NA 1 1 0.001240292 1 9.81E-13 1 1.43E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 116283501 A T - - - - - - 36 0 0 45 3 6.7 54 5 9.3 100 13 13 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.626647059 0.626647059 1 0.734672566 0.734672566 1 0.669448819 0.669448819 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001516071 1 0.00000806 1 5.79E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 119858600 G A - - - - - - 26 0 0 43 3 7 41 7 17.1 101 21 20.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.654705882 0.654705882 1 1.350849558 1.350849558 1 1.07111811 1.07111811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001328364 1 1.51E-09 1 8.38E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 126282271 C G NSMCE2 CCDS6356.1 r.? - - intronic 33 0 0 40 2 5 36 4 11.1 102 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE NA NA 1 0.876867257 0.876867257 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 0.017193422 1 0.0000324 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 127724540 G T - - - - - - 36 0 0 45 2 4.4 57 8 14 87 25 28.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.455529412 0.455529412 1 1.055407595 1.055407595 1 1.190937008 1.190937008 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.021467209 1 5.19E-10 1 9.55E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 130969546 G T FAM49B CCDS6361.1 r.? - - intronic 33 0 0 51 3 5.9 42 6 14.3 72 22 30.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.610823529 0.610823529 1 1.078023472 1.078023472 1 1.269779528 1.269779528 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.002175924 1 7.02E-08 1 3.36E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 135761683 T C - - - - - - 30 0 0 38 3 7.9 58 15 25.9 135 27 20 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.782330127 0.782330127 1 2.223199348 0.959962239 2.315923749 1.02992126 1.02992126 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000925091 1 7.42E-22 1 8.25E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 136198648 C T - - - - - - 26 0 0 33 3 9.1 55 7 12.7 79 13 16.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.901165083 0.901165083 1 1.090140221 1.090140221 1 0.849685039 0.849685039 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000609557 1 1.28E-08 1 2.37E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 136989543 C T - - - - - - 42 0 0 44 2 4.5 60 7 11.7 101 23 22.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.445631085 0.445631085 1 1.004302408 1.004302408 1 1.174110236 1.174110236 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.020580492 1 2.39E-08 1 2.64E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 137980359 C A - - - - - - 28 0 0 49 2 4.1 35 5 14.3 97 23 23.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.406019433 0.406019433 1 1.227480721 1.227480721 1 1.220456693 1.220456693 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.025168485 1 0.000000895 1 9.4E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 138445556 A G - - - - - - 27 0 0 55 3 5.5 41 6 14.6 110 20 18.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.544660215 0.544660215 1 1.253232065 1.253232065 1 0.937228346 0.937228346 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.002700822 1 6.05E-08 1 2.73E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 138736319 G A - - - - - - 27 0 0 41 0 0 57 6 10.5 92 15 16.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.901297033 0.901297033 1 0.839385827 0.839385827 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 1 1 0.000000456 1 1.39E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 139299493 G A FAM135B CCDS6375.2 r.? - - intronic 26 0 0 38 4 10.5 53 10 18.9 104 15 14.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.039805865 1.039805865 1 1.622334659 1.622334659 1 0.741543307 0.741543307 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000403 1 1.57E-13 1 9.59E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 140137560 C A - - - - - - 28 0 0 52 4 7.7 56 7 12.5 121 14 11.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.740780962 0.740780962 1 1.072972658 1.072972658 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 0.000139698 1 1.46E-08 1 2.8E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 146037114 G A ZNF517 CCDS6434.1 r.? - - downstream 27 1 3.7 39 3 7.7 19 8 42.1 135 17 12.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.740780962 0.740780962 1 2.207108506 1.643620986 1.342833004 0.774850394 0.774850394 1 NA NA 0 NA NA 0 NA NA 1 9 NA 0.126579904 1 0.000998458 1 2.81E-14 1 7.05E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 761259 C A - - - - - - 36 0 0 31 0 0 16 3 18.8 48 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.921144543 0.921144543 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000667 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 761307 C A - - - - - - 32 0 0 29 0 0 22 5 22.7 49 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.112233038 1.112233038 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 7.67E-08 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 840561 G C DMRT1 CCDS6442.1 r.? - - upstream 29 0 0 18 0 0 27 3 11.1 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.543867257 0.543867257 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000334187 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 1602087 C T - - - - - - 27 0 0 29 0 0 39 5 12.8 77 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.627162242 0.627162242 1 0 0 1 NA NA 0 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000156 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 2137369 G C SMARCA2 CCDS34977.1 r.? - - intronic 33 0 0 34 3 8.8 49 5 10.2 96 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.559058824 0.559058824 1 0.761222534 0.761222534 1 0 NA 0 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 0.000666058 1 0.00000496 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 120286194 A G - - - - - - 29 0 0 44 6 13.6 35 9 25.7 82 11 13.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.272 1.272 1 2.030224189 1.015112094 2 0.690047244 0.690047244 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 9.37E-08 1 1.23E-13 1 4.94E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 62219990 C A RNU6-21 ENST00000384710 r.? - - downstream 24 0 0 34 1 2.9 35 4 11.4 69 0 0 256 0 0 178 15 8.4 331 18 5.4 1.14E-08 332 0 0 TRUE FALSE 0.225988568 0.225988568 1 0.623333661 0.623333661 1 0 0 1 0.654587577 0.654587577 1 0.295263313 0.295263313 1 0 NA 0 3 NA 1 1 0.156694864 3.38E-14 0.0000289 1.92E-13 1 1 YES 0_1 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 16 62425986 C T - - - - - - 25 0 0 30 0 0 17 4 23.5 76 16 21.1 123 0 0 48 5 10.4 99 15 15.2 9.77E-14 85 21 24.7 TRUE TRUE 0 0 1 1.284942195 1.284942195 1 0.853883738 0.853883738 1 0.810441762 0.810441762 1 0.831111548 0.831111548 1 0.999570063 0.999570063 1 9 11 1 1 1 0.00000447 0.00000141 4.43E-18 1.25E-21 1.53E-29 YES 0_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 16 63582372 G A - - - - - - 33 0 0 38 2 5.3 56 8 14.3 71 0 0 123 0 0 199 4 2 263 15 5.7 9.93E-08 249 0 0 TRUE FALSE 0.413013591 0.413013591 1 0.781900996 0.781900996 1 0 0 1 0.155854185 0.155854185 1 0.31166683 0.31166683 1 0 NA 0 7 NA 1 1 0.015598339 0.018378622 4.48E-10 9.68E-12 1 1 YES 1_1 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 17 64605456 T A PRKCA CCDS11664.1 r.? - - intronic 29 0 0 39 0 0 39 5 12.8 53 0 0 200 0 0 177 0 0 149 8 5.4 0.000142828 149 0 0 TRUE TRUE 0 0 1 0.772613098 0.772613098 1 0 0 1 0 0 1 0.325946151 0.325946151 1 0 0 1 3 3 1 1 1 1 0.00000156 0.00000104 1 1 YES 0_0 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 9 11625498 G A - - - - - - 36 0 0 69 3 4.3 84 12 14.3 213 23 10.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.473460621 0.473460621 1 1.33421593 1.33421593 1 0.620411521 1.042805144 0.594944822 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 0.005121501 1 1.98E-14 1 1.93E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 11644186 C G - - - - - - 23 0 0 62 3 4.8 81 11 13.6 188 29 15.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.528514182 0.528514182 1 1.268904661 1.268904661 1 0.884660873 0.884660873 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.003793816 1 4.29E-13 1 8.92E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 11644227 C G - - - - - - 24 0 0 70 3 4.3 72 13 18.1 188 22 11.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.473460621 0.473460621 1 1.68876282 1.075971542 1.569523686 0.672112481 1.129705573 0.594944822 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 0.005331097 1 6.58E-17 1 2.87E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 3824108 G C DLGAP1 CCDS11836.1 r.? - - intronic 35 0 0 38 3 7.9 46 4 8.7 57 0 0 168 0 0 214 71 33.2 155 13 8.4 7.62E-09 132 0 0 TRUE TRUE 0.501882353 0.501882353 1 0.426274336 0.426274336 1 0 0 1 2.109176471 2.109176471 1 0.411575221 0.411575221 1 0 0 1 7 12 1 1 0.000925091 1.38E-106 0.0000862 1.8E-12 1 1 YES 1_1 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 19 21168332 C T - - - - - - 26 0 0 37 2 5.4 51 8 15.7 93 0 0 150 0 0 96 0 0 155 11 7.1 5.78E-07 175 0 0 TRUE FALSE 0.451058824 0.451058824 1 0.769253687 0.769253687 1 0 0 1 0 NA 0 0.347879056 0.347879056 1 0 0 1 7 NA 1 1 0.014826063 1 2.05E-10 5.46E-10 1 1 YES 1_0 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 9 14730180 C T - - - - - - 38 0 0 57 2 3.5 95 6 6.3 184 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.467352941 0.467352941 1 0.697512625 0.697512625 1 0 0 1 NA NA 0 NA NA 1 NA NA 1 7 NA 1 1 0.03327602 1 0.00000928 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 15754437 C T C9orf93 CCDS6481.1 r.? - - intronic 40 0 0 58 3 5.2 76 15 19.7 168 25 14.9 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 TRUE FALSE 0.694352941 0.694352941 1 2.181110908 1.090555454 2 1.214291339 1.214291339 1 NA NA 1 NA NA 1 0 0 1 9 NA 1 1 0.003141421 1 6.51E-20 1 6.32E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 16885468 C G - - - - - - 48 0 0 65 3 4.6 67 8 11.9 178 19 10.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.614235294 0.614235294 1 1.317523848 1.317523848 1 0.872007874 0.872007874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.004333293 1 1.96E-09 1 1.56E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 24853879 G C - - - - - - 33 0 0 28 3 10.7 25 4 16 35 19 54.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.679764706 0.679764706 1 0.783952802 0.783952802 1 1.16723622 1.16723622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000372895 1 0.00000727 1 7.18E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 25301838 A T - - - - - - 34 0 0 22 1 4.5 41 5 12.2 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.285882353 0.285882353 1 0.597764012 0.597764012 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.104413009 1 0.00000202 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 28495812 C T LINGO2 CCDS6524.1 r.? - - intronic 32 0 0 26 1 3.8 38 14 36.8 47 17 36.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.241411765 0.241411765 1 1.803091445 1.803091445 1 0.77815748 0.77815748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.122190858 1 5.28E-23 1 1.81E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 40657617 T C - - - - - - 17 0 0 28 2 7.1 11 4 36.4 32 7 21.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.451058824 0.451058824 1 1.783492625 1.783492625 1 0.68976378 0.68976378 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.008668191 1 0.000000201 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 44160599 G T - - - - - - 37 0 0 26 2 7.7 29 6 20.7 40 0 0 1 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.489176471 0.489176471 1 1.014238938 1.014238938 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.007502227 1 6.72E-09 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 45378935 A G - - - - - - 57 0 0 65 1 1.5 53 6 11.3 90 7 7.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.095294118 0.095294118 1 0.553666667 0.553666667 1 0.171723779 0.171723779 1 NA NA 1 NA NA 1 NA NA 1 4 NA 1 1 0.278061424 1 0.000000293 1 0.000000406 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 68454587 G C - - - - - - 62 0 0 62 3 4.8 46 10 21.7 91 12 13.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.352941176 0.352941176 1 1.280235988 1.280235988 1 0.415748031 0.415748031 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.003793816 1 3.38E-14 1 5.35E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 80426415 G C GNAQ CCDS6658.1 r.? - - intronic 37 0 0 31 2 6.5 42 8 19 54 14 25.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.477941176 0.477941176 1 1.120943953 1.120943953 1 0.815748031 0.815748031 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.010558179 1 3.96E-11 1 1.64E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 81190976 C G - - - - - - 30 0 0 43 3 7 40 7 17.5 73 26 35.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.514705882 0.514705882 1 1.032448378 1.032448378 1 1.121259843 1.121259843 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001328364 1 1.26E-09 1 5.09E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 84304246 A T TLE1 CCDS6661.1 r.? - - upstream 28 0 0 8 0 0 2 2 100 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 5.899705015 5.899705015 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000025 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 85430100 A T - - - - - - 41 0 0 23 0 0 47 5 10.6 67 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.625368732 0.625368732 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000402 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 85672615 G C RASEF CCDS6662.1 r.? - - intronic 32 0 0 24 0 0 40 10 25 61 17 27.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.474926254 1.474926254 1 0.878740157 0.878740157 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 7.22E-15 1 3.33E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 89920111 G T - - - - - - 26 0 0 41 0 0 20 4 20 64 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.179941003 1.179941003 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000284 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 92800070 G C - - - - - - 35 0 0 33 3 9.1 30 4 13.3 71 25 35.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.669117647 0.669117647 1 0.784660767 0.784660767 1 1.108661417 1.108661417 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000609557 1 0.0000154 1 2.38E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 98904509 T C - - - - - - 40 0 0 29 0 0 52 6 11.5 66 21 31.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.678466077 0.678466077 1 1.001574803 1.001574803 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 0.000000261 1 3.42E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 103012761 C G INVS CCDS6746.1 r.? - - intronic 32 0 0 27 3 11.1 28 6 21.4 62 15 24.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 1.262536873 1.262536873 1 0.762204724 0.762204724 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000334187 1 5.36E-09 1 2.28E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 103573002 T A - - - - - - 36 0 0 23 1 4.3 38 5 13.2 56 16 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.316176471 0.316176471 1 0.778761062 0.778761062 1 0.900787402 0.900787402 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.108890944 1 0.00000137 1 5.26E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 105353317 C A C9orf107 ENST00000374801 r.? - - intronic 26 0 0 37 5 13.5 40 8 20 75 25 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.992647059 0.992647059 1 1.179941003 1.179941003 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000119 1 2.61E-11 1 1.23E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 107845009 A G - - - - - - 34 0 0 37 1 2.7 40 9 22.5 60 16 26.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.198529412 0.198529412 1 1.327433628 1.327433628 1 0.840944882 0.840944882 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.169281299 1 4.64E-13 1 1.86E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 110866653 G A - - - - - - 33 0 0 32 3 9.4 41 11 26.8 50 14 28 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.691176471 0.691176471 1 1.581120944 1.581120944 1 0.881889764 0.881889764 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000556213 1 1.34E-16 1 4.84E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 110961385 G C - - - - - - 29 0 0 30 3 10 31 4 12.9 75 19 25.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 0.761061947 0.761061947 1 0.796850394 0.796850394 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000458697 1 0.0000177 1 4.19E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 117006810 C G COL27A1 CCDS6802.1 r.? - - intronic 26 0 0 29 1 3.4 18 3 16.7 56 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.25 0.25 1 0.985250737 0.985250737 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.135292269 1 0.0000964 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 118104846 C T Dec-01 CCDS6812.1 r.? - - intronic 22 0 0 32 4 12.5 35 6 17.1 63 20 31.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 1.008849558 1.008849558 1 0.998425197 0.998425197 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 2.24E-08 1 1.05E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 120025713 C A ASTN2 CCDS48009.1 r.? - - intronic 17 0 0 36 2 5.6 37 6 16.2 69 19 27.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.411764706 0.411764706 1 0.955752212 0.955752212 1 0.866141732 0.866141732 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.014070883 1 3.18E-08 1 6.95E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 120312654 G A - - - - - - 30 0 0 39 0 0 42 5 11.9 60 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.702064897 0.702064897 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000228 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 121585353 A G - - - - - - 36 0 0 28 2 7.1 33 4 12.1 72 22 30.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.522058824 0.522058824 1 0.713864307 0.713864307 1 0.963779528 0.963779528 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.008668191 1 0.0000228 1 3.36E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 122960018 C G - - - - - - 30 0 0 41 3 7.3 19 3 15.8 60 15 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.536764706 0.536764706 1 0.932153392 0.932153392 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001155993 1 0.000114071 1 1.31E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 126380034 G A DENND1A CCDS35133.1 r.? - - intronic 20 0 0 30 3 10 21 4 19 45 13 28.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 1.120943953 1.120943953 1 0.91023622 0.91023622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000458697 1 0.00000349 1 7.68E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 128848097 C T - - - - - - 42 0 0 33 3 9.1 26 4 15.4 56 12 21.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.669117647 0.669117647 1 0.908554572 0.908554572 1 0.674015748 0.674015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000609557 1 0.00000856 1 1.11E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 133796615 C A FIBCD1 CCDS6937.1 r.? - - intronic 21 0 0 26 1 3.8 8 3 37.5 51 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.279411765 0.279411765 1 2.212389381 2.212389381 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.122190858 1 0.00000687 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 134662326 C G - - - - - - 31 0 0 43 3 7 32 5 15.6 83 27 32.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.514705882 0.514705882 1 0.920353982 0.920353982 1 1.023622047 1.023622047 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001328364 1 0.000000562 1 2.9E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 134907633 C A MED27 CCDS6945.1 r.? - - intronic 26 0 0 42 0 0 40 4 10 60 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.589970501 0.589970501 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000495 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 135816088 G T TSC1 CCDS6956.1 r.? - - intronic 22 0 0 36 3 8.3 53 5 9.4 66 19 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.610294118 0.610294118 1 0.554572271 0.554572271 1 0.907086614 0.907086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000788827 1 0.00000734 1 2.64E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 138788128 C T CAMSAP1 CCDS35176.2 r.? - - intronic 37 0 0 17 3 17.6 34 12 35.3 41 16 39 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.118117647 1.118117647 1 1.869127608 1.339613257 1.395274046 0.838346457 0.838346457 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000807 1 1.21E-19 1 1.4E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 139730861 G C C9orf86 CCDS48058.1 r.? - - intronic 32 0 0 24 0 0 7 4 57.1 30 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 3.023433043 2.166909829 1.395274046 0 0 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 1 1 2.16E-08 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 14501819 G T - - - - - - 39 0 0 22 0 0 31 4 12.9 48 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.679084788 0.679084788 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000177 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 25548384 G C - - - - - - 34 0 0 27 2 7.4 33 6 18.2 37 17 45.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.438245356 0.438245356 1 0.958088616 0.958088616 1 0.921779523 0.921779523 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00807567 1 1.54E-08 1 1.1E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 26403168 A T - - - - - - 36 0 0 31 6 19.4 33 6 18.2 61 28 45.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.148913502 1.148913502 1 0.958088616 0.958088616 1 0.921779523 0.921779523 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.03E-08 1 1.54E-08 1 6.09E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 27058746 C T - - - - - - 21 0 0 33 4 12.1 31 5 16.1 41 19 46.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.71659038 0.71659038 1 0.84753993 0.84753993 1 0.532267717 0.532267717 1 NA NA 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000228 1 0.000000476 1 4.2E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 27274430 G T - - - - - - 28 0 0 29 1 3.4 35 6 17.1 43 24 55.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.201355975 0.201355975 1 0.900182161 0.900182161 1 0.641480315 0.641480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.135292269 1 2.24E-08 1 4.35E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 38744121 C T - - - - - - 31 0 0 33 0 0 29 4 13.8 49 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.619720608 0.619720608 1 0 0 1 NA NA 0 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000134 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 42732019 T G - - - - - - 32 0 0 36 1 2.8 28 3 10.7 52 1 1.9 0 0 NA 0 0 NA 0 0 NA 1 1 0 0 TRUE FALSE 0.171153549 0.171153549 1 0.480508008 0.480508008 1 0.034152136 0.034152136 1 NA NA 1 NA NA 1 0 0 1 3 NA 1 1 0.165106833 1 0.000372895 1 0.229451111 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 50366931 C T SHROOM4 CCDS35277.1 r.? - - intronic 32 0 0 20 0 0 26 4 15.4 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.691572273 0.691572273 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000856 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 51104159 G A - - - - - - 34 0 0 21 2 9.5 7 3 42.9 38 20 52.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.58069954 0.58069954 1 1.926522759 1.926522759 1 0.945474926 0.945474926 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.004928472 1 0.00000431 1 2.94E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 64837929 G C - - - - - - 20 0 0 21 3 14.3 23 5 21.7 33 19 57.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.874105623 0.874105623 1 0.974488202 0.974488202 1 1.035348969 1.035348969 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000155401 1 9.75E-08 1 1.46E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 66016218 C T - - - - - - 23 0 0 28 1 3.6 30 4 13.3 49 20 40.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.220054562 0.220054562 1 0.597266963 0.597266963 1 0.733372186 1.131966346 0.647874549 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.130947004 1 0.0000154 1 2.35E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 67418250 G C OPHN1 CCDS14388.1 r.? - - intronic 24 0 0 25 2 8 39 6 15.4 57 24 42.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.489010139 0.489010139 1 0.691572273 0.691572273 1 0.756739437 1.168033901 0.647874549 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006948068 1 4.43E-08 1 3.83E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 68872818 T C EDA CCDS14394.1 r.? - - intronic 34 0 0 34 3 8.8 26 7 26.9 32 17 53.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.537911153 0.537911153 1 1.208006112 1.208006112 1 0.95446233 0.95446233 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000666058 1 4.73E-11 1 4.02E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 69349459 C A IGBP1 CCDS14396.1 r.? - - upstream 22 0 0 30 1 3.3 34 4 11.8 47 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.201716682 0.201716682 1 0.529906027 0.529906027 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.139615808 1 0.0000257 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 76160703 G A - - - - - - 27 0 0 23 1 4.3 32 7 21.9 40 19 47.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.26284295 0.26284295 1 0.98346966 0.98346966 1 0.961311168 0.961311168 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.108890944 1 2.36E-10 1 2.27E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 127628556 T C - - - - - - 26 1 3.8 40 5 12.5 44 3 6.8 97 27 27.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.294117647 1.294117647 1 0.512626546 0.512626546 1 1.153590551 1.153590551 1 NA NA 1 NA NA 1 NA NA 1 9 NA 0.122190858 1 0.00000178 1 0.00142027 1 3.92E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 79677266 G T FAM46D CCDS14446.1 r.? - - intronic 30 0 0 36 0 0 24 4 16.7 44 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.818250737 0.818250737 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000613 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 130226486 A T AC103833.1 ENST00000509893 r.? - 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- - - - - 28 0 0 25 0 0 25 5 20 43 19 44.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.080961275 1.080961275 1 0.588847526 0.588847526 1 NA NA 1 NA NA 1 NA NA 1 5 NA 1 1 1 1 0.000000153 1 1.36E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 87888276 C T - - - - - - 41 0 0 29 2 6.9 33 4 12.1 41 12 29.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.392663539 0.392663539 1 0.653981571 0.653981571 1 0.557804289 0.739633979 0.754162606 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009279585 1 0.0000228 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 88957683 A T - - - - - - 27 0 0 24 2 8.3 20 6 30 32 15 46.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.472334403 0.472334403 1 1.621441912 1.621441912 1 0.584003118 0.584003118 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.006413403 1 5.7E-10 1 1.59E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 90351451 G A - - - - - - 37 0 0 28 2 7.1 30 5 16.7 50 21 42 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.404045091 0.404045091 1 0.902602664 0.902602664 1 0.725235748 1.256590878 0.577145482 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.008668191 1 0.000000401 1 2.79E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 92147170 C A - - - - - - 35 0 0 21 3 14.3 34 4 11.8 19 9 47.4 0 0 NA 0 0 NA 0 0 NA 1 1 1 100 TRUE FALSE 0.813780959 0.813780959 1 0.637767152 0.637767152 1 0.818480344 0.818480344 1 NA NA 0 NA NA 1 1.726751781 1.726751781 1 9 NA 1 1 0.000155401 1 0.0000257 1 1.72E-16 0.005 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 92877925 G A - - - - - - 33 0 0 24 1 4.2 46 5 10.9 44 2 4.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.239012589 0.239012589 1 0.589123895 0.589123895 1 0.07770383 0.07770383 1 NA NA 0 NA NA 1 NA NA 1 3 NA 1 1 0.113346489 1 0.00000361 1 0.020580492 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 93226000 C T - - - - - - 27 0 0 33 3 9.1 33 4 12.1 46 26 56.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.51786061 0.51786061 1 0.653981571 0.653981571 1 0.975614756 0.975614756 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000609557 1 0.0000228 1 7.59E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 93502263 G A - - - - - - 33 0 0 22 1 4.5 29 8 27.6 45 22 48.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.256084917 0.256084917 1 1.491726559 1.491726559 1 0.844381621 0.844381621 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.104413009 1 1.53E-12 1 8.79E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 97737997 C G - - - - - - 28 0 0 22 2 9.1 32 5 15.6 48 24 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.578117647 0.578117647 1 0.764353982 0.764353982 1 0.863375891 0.863375891 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.005403392 1 0.000000562 1 1.71E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 98573231 C G - - - - - - 32 0 0 33 3 9.1 25 5 20 42 17 40.5 0 0 NA 0 0 NA 2 0 0 1 0 0 NA TRUE FALSE 0.578117647 0.578117647 1 0.979941003 0.979941003 1 0.699334471 1.211712633 0.577145482 NA NA 1 0 0 1 NA NA 0 9 NA 1 1 0.000609557 1 0.000000153 1 1.73E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 109168664 T C - - - - - - 32 0 0 33 2 6.1 44 9 20.5 42 17 40.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.387529412 0.387529412 1 1.004439528 1.004439528 1 0.870590551 0.870590551 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011909843 1 1.18E-12 1 1.73E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 134464457 T A ZNF75D CCDS14648.1 r.? - - intronic 24 0 0 27 0 0 24 4 16.7 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.818250737 0.818250737 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000613 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 135538906 G A - - - - - - 33 0 0 26 3 11.5 33 5 15.2 55 31 56.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.730588235 0.730588235 1 0.744755162 0.744755162 1 1.212377953 1.212377953 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000298167 1 0.00000066 1 1.03E-56 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 139587873 A T SOX3 CCDS14669.1 r.? - - upstream 26 0 0 17 0 0 4 2 50 25 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 2.449852507 2.449852507 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000149002 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 140926981 C T MAGEC3 CCDS14676.1 r.? - - intronic 29 0 0 28 0 0 18 5 27.8 37 16 43.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.362117994 1.362117994 1 0.928629921 0.928629921 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 2.54E-08 1 1.78E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 141162723 T C - - - - - - 26 0 0 28 2 7.1 31 6 19.4 41 17 41.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.451058824 0.451058824 1 0.950542773 0.950542773 1 0.892086614 0.892086614 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.008668191 1 1.03E-08 1 1.03E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 144477750 C T - - - - - - 24 0 0 31 2 6.5 40 6 15 52 25 48.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.412941176 0.412941176 1 0.734955752 0.734955752 1 1.03396063 1.03396063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.010558179 1 5.18E-08 1 1.25E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 144886284 C T - - - - - - 35 0 0 28 1 3.6 31 5 16.1 43 20 46.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.228705882 0.228705882 1 0.788852507 0.788852507 1 0.999566929 0.999566929 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.130947004 1 0.000000476 1 8.21E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 149773480 A T MTM1 CCDS14694.1 r.? - - intronic 33 0 0 24 4 16.7 28 8 28.6 41 12 29.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 1.401315634 1.401315634 1 0.629834646 0.629834646 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000613 1 1.11E-12 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 154817230 C T TMLHE CCDS14768.1 r.? - - intronic 32 0 0 29 3 10.3 28 5 17.9 62 34 54.8 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 0.654352941 0.654352941 1 0.877047198 0.877047198 1 1.177984252 1.177984252 1 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 0.000414371 1 0.000000279 1 1.78E-61 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 131228282 A G ASAP1 CCDS6362.1 r.? - - intronic 33 0 0 34 3 8.8 37 3 8.1 84 11 13.1 0 0 NA 1 0 0 0 0 NA 1 0 0 NA TRUE FALSE 0.911058824 0.911058824 1 0.61062868 0.61062868 1 0.543598425 0.543598425 1 0 0 1 NA NA 1 NA NA 1 9 NA 1 1 0.000666058 1 0.000855237 1 6.49E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 2170090 G C SKI CCDS39.1 r.? - - intronic 29 0 0 38 3 7.9 1 1 100 53 17 32.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.580882353 0.580882353 1 4.759951413 4.759951413 1 1.011023622 1.011023622 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000925091 1 0.005 1 2.08E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 4768938 G A AJAP1 CCDS54.1 r.? - - intronic 28 0 0 27 3 11.1 6 0 0 47 14 29.8 66 0 0 26 3 11.5 39 2 5.1 0.058074659 39 9 23.1 FALSE TRUE 0.816176471 0.816176471 1 0 NA 0 0.938582677 0.938582677 1 0.845588235 0.845588235 1 0.292167847 0.352401642 0.829076291 0.727559055 0.727559055 1 NA 11 1 1 0.000334187 0.000298167 1 0.016387522 1.79E-21 3.62E-13 YES 1_1 0_1 1_1 somatic custom.pulldown.HiSeq PD9777b 1 7488759 C T CAMTA1 CCDS30576.1 r.? - - intronic 37 0 0 34 0 0 10 0 0 65 20 30.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.97007874 0.97007874 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 2.18E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 9694914 A G - - - - - - 30 0 0 38 0 0 27 0 0 65 21 32.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 1.017322835 1.017322835 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 2.35E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 11714317 C T FBXO44 CCDS132.1 r.? - - upstream 22 0 0 12 1 8.3 5 0 0 40 9 22.5 20 0 0 0 0 NA 3 0 0 1 0 0 NA FALSE FALSE 0.610294118 0.610294118 1 0 NA 0 0.708661417 0.708661417 1 NA NA 1 0 NA 0 NA NA 1 NA NA 1 1 0.058377193 1 1 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 11975084 G C KIAA2013 CCDS141.1 r.? - - downstream 37 0 0 30 0 0 18 0 0 59 17 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.907086614 0.907086614 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 1.74E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 17103847 C T - - - - - - 30 0 0 30 2 6.7 30 0 0 60 12 20 366 1 0.3 63 10 15.9 76 2 2.6 0.176473377 78 18 23.1 FALSE TRUE 0.492647059 0.492647059 1 0 NA 0 0.62992126 0.62992126 1 1.169117647 1.169117647 1 0.148948314 0.148948314 1 0.727559055 0.727559055 1 NA 10 1 0.840321092 0.009909649 9.81E-13 1 0.055865747 2.74E-16 6.1E-25 YES 1_1 0_0 1_1 somatic custom.pulldown.HiSeq PD9777b 1 19126996 A T - - - - - - 29 0 0 22 2 9.1 10 1 10 70 23 32.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.669117647 0.669117647 1 0.572878131 0.572878131 1 1.036220472 1.036220472 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.005403392 1 0.04888987 1 1.7E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 20516397 T C UBXN10 CCDS205.1 r.? - - intronic 30 0 0 28 3 10.7 30 2 6.7 55 21 38.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.786764706 0.786764706 1 0.383828348 0.383828348 1 1.203149606 1.203149606 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000372895 1 0.009909649 1 3.41E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 23825400 C T - - - - - - 24 0 0 23 0 0 20 0 0 61 16 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.82519685 0.82519685 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 2.5E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 25641497 C T RHD CCDS262.1 r.? - - intronic 21 0 0 32 0 0 30 0 0 59 9 15.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.481889764 0.481889764 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 1.96E-11 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 25928406 G A - - - - - - 33 0 0 32 4 12.5 17 0 0 60 19 31.7 131 1 0.8 145 12 8.3 182 17 9.3 7.20E-12 182 45 24.7 FALSE TRUE 0.919117647 0.919117647 1 0 NA 0 0.998425197 0.998425197 1 0.610294118 0.610294118 1 0.532776661 0.642614759 0.829076291 0.777952756 0.777952756 1 NA 11 1 0.481410669 0.0000201 1.49E-11 1 1.2E-16 3.21E-29 1.6E-61 YES 1_1 0_1 1_1 somatic custom.pulldown.HiSeq PD9777b 1 26087735 C T MAN1C1 CCDS265.1 r.? - - intronic 29 0 0 30 3 10 36 4 11.1 56 13 23.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 0.635894725 0.635894725 1 0.730708661 0.730708661 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000458697 1 0.0000324 1 1.89E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 26193414 G A PAQR7 CCDS267.1 r.? - - intronic 37 0 0 37 2 5.4 24 0 0 62 21 33.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.397058824 0.397058824 1 0 NA 0 1.067716535 1.067716535 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.014826063 1 1 1 7.22E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 28026709 C A - - - - - - 31 0 0 44 0 0 22 0 0 65 20 30.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.97007874 0.97007874 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 2.18E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 29788497 C T ENSG00000231360 ENST00000455342 r.? - - intronic 26 0 0 30 0 0 16 0 0 57 6 10.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.330708661 0.330708661 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 0.000000456 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 30078226 C T - - - - - - 20 0 0 27 0 0 21 0 0 53 11 20.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.65511811 0.65511811 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 3.07E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 30153560 G A - - - - - - 23 0 0 26 3 11.5 6 1 16.7 52 16 30.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.845588235 0.845588235 1 0.956706478 0.956706478 1 0.97007874 0.97007874 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000298167 1 0.029627491 1 1.33E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 131228285 G A ASAP1 CCDS6362.1 r.? - - intronic 29 0 0 37 5 13.5 35 3 8.6 79 9 11.4 0 0 NA 1 0 0 0 0 NA 1 0 0 NA TRUE FALSE 1.397647059 1.397647059 1 0.648321808 0.648321808 1 0.473055118 0.473055118 1 0 0 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000119 1 0.000725791 1 2.93E-10 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 37448327 C T GRIK3 CCDS416.1 r.? - - intronic 31 0 0 28 0 0 14 0 0 51 6 11.8 0 0 NA 0 0 NA 0 0 NA 1 1 0 0 FALSE FALSE 0 0 1 0 NA 0 0.371653543 0.371653543 1 NA NA 1 NA NA 0 0 0 1 NA NA 1 1 1 1 1 1 0.000000232 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 38062513 C A GNL2 CCDS421.1 r.? - - upstream 34 0 0 37 0 0 34 0 0 63 16 25.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.8 0.8 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 4.48E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 38442460 C G SF3A3 CCDS428.1 r.? - - intronic 31 0 0 48 0 0 33 0 0 68 21 30.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.973228346 0.973228346 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 7.15E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 38560575 T C - - - - - - 41 0 0 36 7 19.4 7 1 14.3 63 20 31.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.426470588 1.426470588 1 0.819215727 0.819215727 1 0.998425197 0.998425197 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 5.74E-10 1 0.034479353 1 1.05E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 42443867 C A - - - - - - 17 0 0 25 1 4 30 3 10 69 25 36.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.294117647 0.294117647 1 0.572878131 0.572878131 1 1.14015748 1.14015748 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.117779757 1 0.000458697 1 1E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 44962944 C G RNF220 CCDS510.1 r.? - - intronic 28 0 0 36 0 0 37 0 0 53 16 30.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.951181102 0.951181102 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 1.9E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 44964665 C A RNF220 CCDS510.1 r.? - - intronic 34 0 0 30 0 0 41 0 0 69 12 17.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.548031496 0.548031496 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 1.65E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 45301555 C T PTCH2 CCDS516.1 r.? - - intronic 44 0 0 38 2 5.3 25 4 16 62 20 32.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.389705882 0.389705882 1 0.916605009 0.916605009 1 1.017322835 1.017322835 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.015598339 1 0.00000727 1 7.19E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 49813392 C T AGBL4 CCDS44137.1 r.? - - intronic 18 0 0 16 1 6.2 9 1 11.1 44 12 27.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.455882353 0.455882353 1 0.635894725 0.635894725 1 0.85984252 0.85984252 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.077068876 1 0.044110422 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 51546520 G A - - - - - - 29 0 0 34 0 0 15 0 0 58 21 36.2 0 0 NA 1 0 0 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 1.14015748 1.14015748 1 0 0 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 1.34E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 56807633 A C - - - - - - 17 0 0 25 0 0 25 0 0 69 15 21.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.683464567 0.683464567 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 1.34E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 59174602 A G - - - - - - 39 0 0 32 2 6.2 35 4 11.4 61 22 36.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.455882353 0.455882353 1 0.653081069 0.653081069 1 1.137007874 1.137007874 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.011224977 1 0.0000289 1 4.38E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 71824428 G C - - - - - - 20 0 0 31 0 0 24 0 0 54 8 14.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.466141732 0.466141732 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 3.31E-10 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 72013811 C G NEGR1 CCDS661.1 r.? - - intronic 36 0 0 27 0 0 40 0 0 49 12 24.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.771653543 0.771653543 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 1.9E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 72247063 G A NEGR1 CCDS661.1 r.? - - intronic 36 0 0 31 0 0 23 0 0 52 13 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.787401575 0.787401575 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 6.47E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 73985979 G T - - - - - - 30 0 0 28 3 10.7 45 3 6.7 57 17 29.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.786764706 0.786764706 1 0.383828348 0.46295902 0.829076291 0.938582677 0.938582677 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000372895 1 0.001516071 1 8.82E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 75171383 T G CRYZ CCDS665.1 r.2092a>c c.? p.? 3'UTR variant 33 0 0 34 0 0 30 0 0 69 10 14.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.456692913 0.456692913 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 2.54E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 76529193 G C - - - - - - 36 0 0 29 6 20.7 27 3 11.1 38 10 26.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.522058824 1.522058824 1 0.635894725 0.635894725 1 0.828346457 0.828346457 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 6.72E-09 1 0.000334187 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 79012270 C T - - - - - - 25 0 0 38 3 7.9 38 1 2.6 56 21 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.580882353 0.580882353 1 0.148948314 NA 0 1.181102362 1.181102362 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.000925091 1 0.173434892 1 5.43E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 79014724 C G - - - - - - 28 0 0 43 2 4.7 31 2 6.5 56 13 23.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.345588235 0.345588235 1 0.372370785 0.372370785 1 0.730708661 0.730708661 1 NA NA 1 NA NA 0 NA NA 1 6 NA 1 1 0.019709573 1 0.010558179 1 1.89E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 93022535 T C EVI5 CCDS30774.1 r.? - - intronic 32 1 3.1 32 5 15.6 44 2 4.5 57 17 29.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.147058824 1.147058824 1 0.257795159 0.310942625 0.829076291 0.938582677 0.938582677 1 NA NA 1 NA NA 0 NA NA 1 9 NA 0.14819814 1 0.000000562 1 0.020580492 1 8.82E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 93100459 G A EVI5 CCDS30774.1 r.? - - intronic 31 0 0 39 4 10.3 17 2 11.8 44 15 34.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 0.675996194 0.675996194 1 1.074015748 1.074015748 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000447 1 0.003234386 1 6.12E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 94591281 C G ABCA4 CCDS747.1 r.? - - upstream 41 0 0 35 0 0 49 0 0 70 18 25.7 42 0 0 140 2 1.4 149 0 0 1 163 33 20.2 FALSE FALSE 0 0 1 0 NA 0 0.809448819 0.809448819 1 0.102941176 0.102941176 1 0 NA 0 0.636220472 0.636220472 1 NA NA 1 1 1 0.155542249 1 1 6.91E-26 2.21E-42 YES 0_0 0_0 1_1 somatic custom.pulldown.HiSeq PD9777b 1 94591932 C G - - - - - - 44 0 0 27 0 0 28 0 0 63 18 28.6 217 0 0 118 0 0 157 0 0 1 171 32 18.7 FALSE FALSE 0 0 1 0 NA 0 0.900787402 0.900787402 1 0 0 1 0 NA 0 0.588976378 0.588976378 1 NA NA 1 1 1 1 1 1 7.98E-27 5.81E-40 YES 0_0 0_0 1_1 somatic custom.pulldown.HiSeq PD9777b 1 95725396 C G - - - - - - 33 0 0 41 0 0 31 0 0 52 7 13.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.42519685 0.42519685 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 8.58E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 98602800 G A - - - - - - 30 0 0 29 2 6.9 39 1 2.6 61 15 24.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.507352941 0.507352941 1 0.148948314 NA 0 0.77480315 0.77480315 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.009279585 1 0.177567718 1 1.73E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 99603905 A G - - - - - - 19 0 0 33 0 0 39 0 0 59 18 30.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.960629921 0.960629921 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 2.03E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 104893421 C T - - - - - - 26 0 0 25 3 12 29 3 10.3 49 15 30.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.882352941 0.882352941 1 0.590064475 0.590064475 1 0.963779528 0.963779528 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00026475 1 0.000414371 1 4.1E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 109075090 A G - - - - - - 33 0 0 41 2 4.9 39 8 20.5 61 15 24.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.360294118 0.360294118 1 1.174400168 1.174400168 1 0.77480315 0.77480315 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.018015855 1 2.09E-11 1 1.73E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 112558135 G A - - - - - - 41 0 0 37 0 0 26 0 0 60 15 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.787401575 0.787401575 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 1.31E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 112956947 C T CTTNBP2NL CCDS845.1 r.? - - intronic 25 0 0 27 2 7.4 26 1 3.8 52 13 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.544117647 0.544117647 1 0.21769369 NA 0 0.787401575 0.787401575 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.00807567 1 0.122190858 1 6.47E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 113060329 G C WNT2B CCDS847.1 r.? - - intronic 41 0 0 48 0 0 35 0 0 60 5 8.3 160 0 0 110 0 0 157 0 0 1 165 6 3.6 FALSE FALSE 0 0 1 0 NA 0 0.261417323 0.261417323 1 0 0 1 0 NA 0 0.113385827 0.113385827 1 NA NA 1 1 1 1 1 1 0.0000136 0.000202807 YES 0_0 0_0 1_1 somatic custom.pulldown.HiSeq PD9777b 1 114173858 C T MAGI3 CCDS860.1 r.? - - intronic 28 0 0 38 0 0 27 0 0 68 17 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.787401575 0.787401575 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 2.69E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 117326282 C G - - - - - - 28 0 0 26 0 0 26 0 0 62 6 9.7 2 0 0 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.305511811 0.305511811 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 0.000000756 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 117761383 T A - - - - - - 32 0 0 27 3 11.1 47 4 8.5 79 32 40.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.486946411 0.486946411 1 1.275590551 1.275590551 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000334187 1 0.0000939 1 2.44E-52 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 120901044 A C - - - - - - 27 0 0 26 2 7.7 10 1 10 45 19 42.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.566176471 0.566176471 1 0.572878131 0.572878131 1 1.329133858 1.329133858 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.007502227 1 0.04888987 1 4.11E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 142561610 C T - - - - - - 52 0 0 60 1 1.7 66 4 6.1 90 9 10 0 0 NA 0 0 NA 0 0 NA 1 1 0 0 TRUE FALSE 0.125 0.125 1 0.34945566 0.421500003 0.829076291 0.31496063 0.31496063 1 NA NA 1 NA NA 0 0 0 1 4 NA 1 1 0.259739042 1 0.000351793 1 9.58E-10 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 143400534 G T - - - - - - 64 0 0 65 3 4.6 44 2 4.5 146 15 10.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.338235294 0.338235294 1 0.257795159 0.310942625 0.829076291 0.40931134 0.40931134 1 NA NA 1 NA NA 0 NA NA 1 5 NA 1 1 0.004333293 1 0.020580492 1 1.75E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 143065097 G A - - - - - - 14 0 0 25 0 0 34 2 5.9 63 5 7.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.309309743 0.309309743 1 0.485818898 0.485818898 1 NA NA 1 NA NA 0 NA NA 1 5 NA 1 1 1 1 0.012612579 1 0.0000173 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 143553511 A C BAI1 ENST00000323289 r.? - - intronic 23 0 0 36 5 13.9 1 0 0 90 9 10 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.337253945 1.337253945 1 0 NA 0 0.61496063 0.61496063 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.00000104 1 1 1 9.58E-10 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 146339335 C T - - - - - - 37 0 0 39 5 12.8 16 1 6.2 64 12 18.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.069176471 1.069176471 1 0.355184441 NA 0 0.747092542 0.747092542 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.00000156 1 0.077068876 1 6.3E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 148869161 C T - - - - - - 48 0 0 75 1 1.3 79 4 5.1 140 15 10.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.108588235 0.108588235 1 0.334038274 0.513853601 0.650065064 0.425206926 0.425206926 1 NA NA 1 NA NA 1 NA NA 1 5 NA 1 1 0.313356907 1 0.000696582 1 9.28E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 152370986 C T - - - - - - 27 0 0 43 3 7 37 3 8.1 82 18 22 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.584705882 0.584705882 1 0.530531376 0.530531376 1 0.87425723 0.87425723 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001328364 1 0.000855237 1 1.65E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 153152840 T A - - - - - - 30 0 0 45 0 0 51 0 0 83 14 16.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.671588509 0.671588509 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 1.17E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 9082666 C T PTPRD CCDS43786.1 r.? - - intronic 38 0 0 40 10 25 38 8 21.1 112 28 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.752678031 1.035709279 2.657770947 1.96866826 0.98433413 2 1.43613778 0.900431012 1.594944822 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 7.22E-15 1 1.67E-11 1 4.85E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 155212342 C G FAM189B CCDS1103.1 r.? - - downstream 35 0 0 41 2 4.9 26 2 7.7 77 23 29.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.409294118 0.409294118 1 0.504332296 0.504332296 1 1.188195054 1.188195054 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.018015855 1 0.007502227 1 2.24E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 155214847 C T FAM189B CCDS1103.1 r.? - - downstream 36 0 0 26 2 7.7 20 1 5 101 31 30.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.643176471 0.643176471 1 0.327488504 0.327488504 1 1.219986226 1.219986226 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.007502227 1 0.09538952 1 3.17E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 157207549 G A - - - - - - 21 0 0 40 4 10 40 3 7.5 102 18 17.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.835294118 0.835294118 1 0.491232756 0.491232756 1 0.699405784 0.848494598 0.824290202 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000495 1 0.001075403 1 1.16E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 163470791 C G - - - - - - 41 0 0 43 0 0 52 1 1.9 84 26 31 37 0 0 266 13 4.9 450 19 4.2 2.41E-07 417 80 19.2 TRUE TRUE 0 0 1 0.124445631 0.124445631 1 1.231907915 1.231907915 1 0.409294118 0.409294118 1 0.275090343 0.275090343 1 0.762988128 0.925630471 0.824290202 6 9 1 1 1 1.5E-09 0.229451111 3.55E-12 3.94E-39 2.67E-98 YES 0_1 0_1 1_1 somatic custom.pulldown.HiSeq PD9777b 1 166061105 G A FAM78B CCDS30931.1 r.? - - intronic 35 0 0 32 2 6.2 43 3 7 87 12 13.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.517882353 0.517882353 1 0.458483906 0.458483906 1 0.548397717 0.665296901 0.824290202 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011224977 1 0.001328364 1 3.06E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 170494349 C G - - - - - - 26 0 0 52 0 0 25 0 0 88 19 21.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.858361644 0.858361644 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.22E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 171008517 G A - - - - - - 36 0 0 37 2 5.4 36 0 0 95 21 22.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.451058824 0.451058824 1 0 0 1 0.878231127 0.878231127 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.014826063 1 1 1 2.05E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 171635496 G T - - - - - - 39 0 0 36 0 0 50 0 0 113 7 6.2 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.246381583 0.246381583 1 NA NA 1 0 0 1 NA NA 1 1 NA 1 1 1 1 1 1 0.0000019 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 173938431 T A RC3H1 CCDS30940.1 r.? - - intronic 44 0 0 36 3 8.3 26 2 7.7 77 11 14.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.693294118 0.693294118 1 0.504332296 0.504332296 1 0.5682672 0.689401861 0.824290202 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000788827 1 0.007502227 1 2.41E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 177447344 T C - - - - - - 27 0 0 27 2 7.4 35 7 20 70 8 11.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.618117647 0.618117647 1 1.309954016 1.309954016 1 0.453024201 0.549593092 0.824290202 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00807567 1 4.65E-10 1 2.8E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 177954027 A G SEC16B ENST00000239472 r.? - - intronic 37 0 0 27 1 3.7 44 1 2.3 99 16 16.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.309058824 0.309058824 1 0.150644712 0.150644712 1 0.643771233 0.78100071 0.824290202 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.126579904 1 0.197923942 1 1.17E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 178952160 A C - - - - - - 33 0 0 41 0 0 37 0 0 104 16 15.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.611980061 0.742432774 0.824290202 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.67E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 179576035 A G TDRD5 CCDS1332.1 r.? - - intronic 34 0 0 42 2 4.8 41 3 7.3 71 16 22.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.400941176 0.400941176 1 0.478133216 0.478133216 1 0.894126713 0.894126713 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.018854633 1 0.001155993 1 3.77E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 180018072 G A CEP350 CCDS1336.1 r.? - - intronic 30 0 0 45 0 0 37 0 0 92 18 19.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.778883714 0.778883714 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.58E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 183531986 G T NCF2 CCDS1356.1 r.? - - intronic 20 0 0 39 5 12.8 29 1 3.4 76 15 19.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.069176471 1.069176471 1 0.222692183 0.222692183 1 0.782857611 0.782857611 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000156 1 0.135292269 1 6.51E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 187334920 G A - - - - - - 31 0 0 24 2 8.3 14 4 28.6 68 19 27.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.693294118 0.693294118 1 1.873234243 1.873234243 1 1.108717124 1.108717124 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006413403 1 0.000000601 1 5.06E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 188403794 C A - - - - - - 41 0 0 35 0 0 29 0 0 75 17 22.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.902074506 0.902074506 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.72E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 188692873 T A - - - - - - 27 0 0 34 0 0 40 0 0 63 13 20.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.818622679 0.818622679 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.01E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 189017349 C T - - - - - - 26 0 0 37 3 8.1 10 1 10 58 19 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.676588235 0.676588235 1 0.654977008 0.654977008 1 1.303438053 1.303438053 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000855237 1 0.04888987 1 1.5E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 189891639 C T - - - - - - 43 0 0 35 3 8.6 37 4 10.8 84 17 20.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.718352941 0.718352941 1 0.707375169 0.707375169 1 0.802727093 0.802727093 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000725791 1 0.0000362 1 1.42E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 191449445 G A - - - - - - 32 0 0 33 2 6.1 42 4 9.5 111 29 26.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.549054521 0.549054521 1 0.750471976 0.750471976 1 1.246530903 1.246530903 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011909843 1 0.0000601 1 5.25E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 194944361 T C - - - - - - 22 0 0 38 1 2.6 34 3 8.8 80 10 12.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.234023239 0.234023239 1 0.695174041 0.695174041 1 0.596997559 0.953100534 0.626374173 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.173434892 1 0.000666058 1 1.17E-11 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 195121658 A G - - - - - - 29 0 0 38 0 0 40 0 0 95 6 6.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.30088677 0.480362669 0.626374173 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 0.00000928 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 195259356 A G - - - - - - 35 0 0 39 0 0 40 0 0 89 16 18 15 0 0 134 0 0 199 0 0 1 248 41 16.5 FALSE FALSE 0 NA 0 0 0 1 1.030004564 1.030004564 1 0 NA 0 0 0 1 0.94417085 0.94417085 1 NA NA 1 1 1 1 1 1 1.91E-20 2.21E-48 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 195722368 G A - - - - - - 31 0 0 37 2 5.4 43 3 7 126 24 19 0 0 NA 1 1 100 0 0 NA 1 0 0 NA TRUE FALSE 0.486048265 0.486048265 1 0.552979351 0.552979351 1 1.08722704 1.08722704 1 9.00089379 9.00089379 1 NA NA 1 NA NA 1 9 NA 1 1 0.014826063 0.005 0.001328364 1 1.45E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 196375576 A C KCNT2 CCDS1384.1 r.? - - intronic 29 0 0 39 3 7.7 54 3 5.6 117 13 11.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.643176471 0.643176471 1 0.399667439 0.399667439 1 0.635169481 1.109192623 0.572641278 NA NA 0 NA NA 1 NA NA 1 6 NA 1 1 0.000998458 1 0.00256299 1 4.66E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 196781589 C A - - - - - - 33 0 0 41 4 9.8 50 4 8 91 15 16.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.818588235 0.818588235 1 0.570953485 0.570953485 1 0.771037662 0.771037662 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000546 1 0.000119787 1 1.17E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 197287527 G T CRB1 CCDS1390.1 r.? - - intronic 28 0 0 47 0 0 40 0 0 97 10 10.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.481314419 0.919681147 0.523349229 NA NA 1 NA NA 0 NA NA 1 2 NA 1 1 1 1 1 1 8.27E-11 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 198205200 G T NEK7 CCDS1394.1 r.? - - intronic 35 0 0 31 0 0 49 0 0 94 19 20.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.943937017 0.943937017 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 4.81E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 198356131 C T - - - - - - 28 0 0 42 4 9.5 59 4 6.8 84 18 21.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.793529412 0.793529412 1 0.485310462 0.485310462 1 1.000012483 1.000012483 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000601 1 0.00022841 1 2.65E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 199749614 T G - - - - - - 30 0 0 55 0 0 49 0 0 96 6 6.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.289723243 0.553594477 0.523349229 NA NA 1 NA NA 0 NA NA 1 2 NA 1 1 1 1 1 1 0.00000986 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 200735623 C T CAMSAP1L1 CCDS1404.1 r.? - - intronic 40 0 0 35 3 8.6 23 2 8.7 88 17 19.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.718352941 0.718352941 1 0.620911915 0.620911915 1 0.901880417 0.901880417 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000725791 1 0.00589844 1 3.34E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 202117144 C T PTPN7 CCDS1422.1 r.2262g>a c.? p.? 3'UTR variant 31 0 0 26 3 11.5 40 3 7.5 122 20 16.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.960588235 0.960588235 1 0.535268892 0.535268892 1 0.766364707 0.766364707 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000298167 1 0.001075403 1 2.47E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 202728385 T G KDM5B CCDS30974.1 r.? - - intronic 37 0 0 45 0 0 37 0 0 86 9 10.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.49066033 0.937539033 0.523349229 NA NA 1 NA NA 0 NA NA 1 2 NA 1 1 1 1 1 1 6.35E-10 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 11643969 C T - - - - - - 28 0 0 54 8 14.8 74 23 31.1 193 36 18.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.629585394 1.629585394 1 2.901686393 0.967228798 3 1.07423106 1.07423106 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 3.31E-10 1 7.7E-35 1 1.06E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 210592932 G C HHAT CCDS1495.1 r.? - - intronic 30 0 0 43 2 4.7 23 1 4.3 113 17 15 0 0 NA 0 0 NA 0 0 NA 1 1 0 0 TRUE FALSE 0.392588235 0.392588235 1 0.306887498 0.306887498 1 0.700943329 0.700943329 1 NA NA 1 NA NA 1 0 0 1 9 NA 1 1 0.019709573 1 0.108890944 1 3.06E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 211634751 C T - - - - - - 32 0 0 30 2 6.7 45 4 8.9 98 24 24.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.559647059 0.559647059 1 0.635185752 0.635185752 1 1.144874104 1.144874104 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009909649 1 0.0000791 1 1.92E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 212016656 G A - - - - - - 41 0 0 48 0 0 63 0 0 99 18 18.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.850477906 0.850477906 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 6.53E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 212501318 G A PPP2R5A CCDS1503.1 r.? - - intronic 30 0 0 37 4 10.8 29 1 3.4 107 20 18.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.902117647 0.902117647 1 0.242655231 0.242655231 1 0.873842684 0.873842684 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000362 1 0.135292269 1 1.51E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 213099628 C T - - - - - - 18 0 0 31 0 0 17 0 0 67 12 17.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.83645904 0.83645904 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.14E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 214104158 C T - - - - - - 38 0 0 38 4 10.5 51 2 3.9 105 19 18.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.877058824 0.877058824 1 0.278339824 1.173372397 0.237213543 0.845804951 0.845804951 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000403 1 0.027109304 1 4.65E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 214187738 C T PROX1 CCDS31021.1 r.? - - intronic 33 0 0 46 2 4.3 37 0 0 96 17 17.7 221 0 0 241 5 2.1 262 9 3.4 0.00145955 259 39 15.1 TRUE TRUE 0.359176471 0.359176471 1 0 0 1 0.827113129 0.827113129 1 0.175411765 0.175411765 1 0.242655231 1.022940038 0.237213543 0.705616285 0.705616285 1 6 8 1 1 0.022369545 0.007693147 1 0.00000877 1.64E-21 1.96E-44 YES 1_1 0_1 1_1 somatic custom.pulldown.HiSeq PD9777b 1 216554714 G T USH2A CCDS31025.1 r.? - - intronic 30 0 0 51 4 7.8 41 3 7.3 94 27 28.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.651529412 0.651529412 1 0.520995055 0.520995055 1 1.341138237 1.341138237 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000129466 1 0.001155993 1 1.48E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 217279982 T C ESRRG CCDS1517.1 r.? - - intronic 35 0 0 56 3 5.4 42 1 2.4 88 21 23.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.451058824 0.451058824 1 0.171286045 0.171286045 1 1.116836371 1.116836371 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.00284314 1 0.189842622 1 3.45E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 217717393 A T GPATCH2 CCDS1518.1 r.? - - intronic 42 0 0 50 1 2 40 0 0 90 21 23.3 38 0 0 504 29 5.8 355 24 6.8 4.84E-13 453 83 18.3 TRUE TRUE 0.167058824 0.167058824 1 0 0 1 1.088798638 1.088798638 1 0.484470588 0.484470588 1 0.485310462 0.485310462 1 0.855150862 0.855150862 1 2 9 1 1 0.221687443 2.18E-21 1 1.42E-19 5.83E-29 3.96E-100 YES 0_1 0_1 1_1 somatic custom.pulldown.HiSeq PD9777b 1 219936141 A G - - - - - - 37 0 0 36 1 2.8 51 4 7.8 101 9 8.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.233882353 0.233882353 1 0.556679648 0.556679648 1 0.415893042 0.794675942 0.523349229 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.165106833 1 0.000129466 1 2.7E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 220871639 G C C1orf115 CCDS1524.1 r.2553g>c c.? p.? 3'UTR variant 29 0 0 40 1 2.5 31 2 6.5 88 13 14.8 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.208823529 0.208823529 1 0.463899706 0.463899706 1 0.691597418 0.691597418 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.181679879 1 0.010558179 1 1.03E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 221677628 G C - - - - - - 34 0 0 41 0 0 26 0 0 100 14 14 0 0 NA 0 0 NA 0 0 NA 1 1 0 0 TRUE FALSE 0 0 1 0 0 1 0.654213774 1.250052044 0.523349229 NA NA 1 NA NA 1 0 0 1 2 NA 1 1 1 1 1 1 1.8E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 222012568 G A - - - - - - 28 0 0 37 1 2.7 26 3 11.5 103 13 12.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.225529412 0.225529412 1 0.820745634 0.820745634 1 0.588792397 1.12504684 0.523349229 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.169281299 1 0.000298167 1 8.6E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 225486839 G A DNAH14 CCDS44321.1 r.? - - intronic 28 0 0 30 1 3.3 46 4 8.7 115 24 20.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.275647059 0.275647059 1 0.620911915 0.620911915 1 0.976647705 0.976647705 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.139615808 1 0.0000862 1 1.34E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 226800194 G A C1orf95 CCDS31044.1 r.? - - downstream 35 0 0 31 1 3.2 36 4 11.1 108 20 18.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.267294118 0.267294118 1 0.79219796 0.79219796 1 0.864496773 0.864496773 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.143917729 1 0.0000324 1 1.84E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 227003059 A C - - - - - - 24 0 0 45 3 6.7 32 0 0 96 14 14.6 120 0 0 114 8 7 122 6 4.9 0.001505675 132 19 14.4 TRUE TRUE 0.559647059 0.559647059 1 0 0 1 0.682251507 0.682251507 1 0.584705882 0.584705882 1 0.349709009 1.474237114 0.237213543 0.672905596 1.285767817 0.523349229 6 11 1 1 0.001516071 0.000000134 1 0.0000385 9.96E-17 4.59E-22 YES 1_1 0_1 1_1 somatic custom.pulldown.HiSeq PD9777b 1 228604522 G A TRIM17 CCDS1571.1 r.62c>u c.? p.? 5'UTR variant 12 0 0 2 0 0 2 1 50 37 10 27 44 0 0 2 0 0 4 0 0 1 18 3 16.7 TRUE TRUE 0 0 1 3.568459279 3.568459279 1 1.261697993 1.261697993 1 0 0 1 0 0 1 0.780383573 0.780383573 1 9 11 1 1 1 1 0.009975 1 3.01E-15 0.0000964 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 229086464 T A - - - - - - 38 0 0 48 0 0 58 0 0 96 15 15.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.728981062 0.728981062 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.73E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 233804588 T C KCNK1 CCDS1599.1 r.? - - intronic 39 0 0 41 3 7.3 29 1 3.4 106 32 30.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.609764706 0.609764706 1 0.242655231 0.242655231 1 1.41123257 0.92640121 1.523349229 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001155993 1 0.135292269 1 2.14E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 233828502 G A - - - - - - 45 0 0 42 3 7.1 31 3 9.7 98 19 19.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.593058824 0.593058824 1 0.6922811 0.6922811 1 0.906553373 0.906553373 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001240292 1 0.000505952 1 1.13E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 234842520 T G - - - - - - 22 0 0 35 2 5.7 34 4 11.8 102 19 18.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.476117647 0.476117647 1 0.84215639 0.84215639 1 0.869169728 0.869169728 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.013332991 1 0.0000257 1 2.57E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 234842522 T C - - - - - - 22 0 0 33 2 6.1 35 4 11.4 101 19 18.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.509529412 0.509529412 1 0.813608716 0.813608716 1 0.878515639 0.878515639 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011909843 1 0.0000289 1 2.1E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 234842523 G C - - - - - - 19 0 0 32 2 6.2 34 4 11.8 95 19 20 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.517882353 0.517882353 1 0.84215639 0.84215639 1 0.934591106 0.934591106 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011224977 1 0.0000257 1 5.98E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 234931199 C T - - - - - - 51 0 0 66 5 7.6 41 2 4.9 121 10 8.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.634823529 0.634823529 1 0.349709009 0.349709009 1 0.387855309 0.741102283 0.523349229 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.0000217 1 0.018015855 1 7.46E-10 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 235041672 G T - - - - - - 31 0 0 38 1 2.6 25 2 8 91 9 9.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.217176471 0.217176471 1 0.570953485 0.570953485 1 0.462622597 0.883965374 0.523349229 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.173434892 1 0.006948068 1 1.06E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 236306412 G A GPR137B CCDS1609.1 r.? - - intronic 21 0 0 9 0 0 3 0 0 41 5 12.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.570100574 0.570100574 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 1 1 0.00000202 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 65880373 G A - - - - - - 10 1 10 9 0 0 0 0 NA 10 4 40 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 NA NA 1 0.880634765 0.880634765 1 NA NA 1 NA NA 1 NA NA 1 NA NA 0.04888987 1 1 1 1 1 0.000000128 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 236667384 G C - - - - - - 25 0 0 42 0 0 45 0 0 97 14 14.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.672905596 0.672905596 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.16E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 239219043 A G - - - - - - 31 0 0 35 0 0 45 0 0 86 13 15.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.705616285 0.705616285 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 7.57E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 239995857 G A CHRM3 CCDS1616.1 r.? - - intronic 28 0 0 32 2 6.2 45 5 11.1 92 25 27.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.517882353 0.517882353 1 0.79219796 0.79219796 1 1.271043904 1.271043904 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011224977 1 0.00000323 1 4.74E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 240170869 G A - - - - - - 38 0 0 36 1 2.8 46 1 2.2 98 21 21.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.233882353 0.233882353 1 0.157012208 0.157012208 1 1.000012483 1.000012483 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.165106833 1 0.205924651 1 4.19E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 240411608 G A FMN2 CCDS31069.2 r.? - - intronic 29 0 0 34 0 0 39 0 0 81 10 12.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.57477353 1.09826001 0.523349229 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 241101901 T A RGS7 CCDS31071.1 r.? - - intronic 37 0 0 27 2 7.4 50 3 6 97 13 13.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.618117647 0.618117647 1 0.428215113 0.428215113 1 0.626176041 1.196478385 0.523349229 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00807567 1 0.002055544 1 3.85E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 241717734 C T KMO CCDS1618.1 r.? - - intronic 19 0 0 33 2 6.1 32 0 0 100 15 15 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.509529412 0.509529412 1 0 0 1 0.700943329 0.700943329 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.011909843 1 1 1 5.19E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 242469791 T C PLD5 CCDS1621.1 r.? - - intronic 20 0 0 23 0 0 20 0 0 58 9 15.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.724308107 0.724308107 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 242495282 G A PLD5 CCDS1621.1 r.? - - intronic 26 0 0 27 3 11.1 48 3 6.2 105 15 14.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.927176471 0.927176471 1 0.442488951 0.442488951 1 0.668232641 1.276838874 0.523349229 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000334187 1 0.001827434 1 1.11E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 243005420 C T - - - - - - 31 0 0 45 2 4.4 44 1 2.3 93 14 15.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.367529412 0.367529412 1 0.164149127 0.164149127 1 0.705616285 0.705616285 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.021467209 1 0.197923942 1 6.26E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 244259815 A C - - - - - - 28 0 0 49 3 6.1 27 1 3.7 93 18 19.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.509529412 0.509529412 1 0.264065987 0.264065987 1 0.906553373 0.906553373 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001939399 1 0.126579904 1 1.95E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 245630003 G A KIF26B CCDS44342.1 r.? - - intronic 28 0 0 44 2 4.5 31 3 9.7 116 28 24.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.375882353 0.375882353 1 0.6922811 0.6922811 1 1.126182282 1.126182282 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.020580492 1 0.000505952 1 1.46E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 246151755 G A SMYD3 CCDS31083.1 r.? - - intronic 25 0 0 46 1 2.2 24 1 4.2 118 17 14.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.183764706 0.183764706 1 0.299750579 0.299750579 1 0.672905596 1.285767817 0.523349229 NA NA 0 NA NA 1 NA NA 1 6 NA 1 1 0.205924651 1 0.113346489 1 6.61E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 247076129 T C AHCTF1 CCDS1629.1 r.? - - intronic 34 0 0 30 2 6.7 47 3 6.4 96 19 19.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.559647059 0.559647059 1 0.456762788 0.456762788 1 0.925245195 0.925245195 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.009909649 1 0.001719595 1 7.42E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 247386111 T G - - - - - - 28 0 0 48 4 8.3 39 1 2.6 96 20 20.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.693294118 0.693294118 1 0.185559883 0.185559883 1 0.97197475 0.97197475 1 NA NA 0 NA NA 1 NA NA 1 6 NA 1 1 0.000102016 1 0.177567718 1 1.43E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 247943765 A T - - - - - - 15 0 0 30 2 6.7 52 3 5.8 103 24 23.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.559647059 0.559647059 1 0.413941276 0.413941276 1 1.088798638 1.088798638 1 NA NA 0 NA NA 1 NA NA 1 6 NA 1 1 0.009909649 1 0.002300591 1 7.27E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 248105439 C A OR2L13 CCDS1637.1 r.? - - intronic 50 0 0 49 2 4.1 48 1 2.1 92 21 22.8 0 0 NA 2 0 0 0 0 NA 1 0 0 NA TRUE FALSE 0.342470588 0.342470588 1 0.14987529 0.14987529 1 1.065433861 1.065433861 1 0 NA 0 NA NA 1 NA NA 1 6 NA 1 1 0.025168485 1 0.213845552 1 9.72E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 248422070 G A - - - - - - 19 0 0 23 3 13 30 2 6.7 57 13 22.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.085882353 1.085882353 1 0.478173543 0.478173543 1 1.065433861 1.065433861 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000205387 1 0.009909649 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 249188902 T C - - - - - - 22 0 0 26 1 3.8 49 1 2 96 17 17.7 9 0 0 15 0 0 13 2 15.4 0.007248944 15 0 0 TRUE FALSE 0.317411765 0.317411765 1 0.142738371 0.142738371 1 0.827113129 0.827113129 1 0 NA 0 1.099085458 1.099085458 1 0 0 1 6 NA 1 1 0.122190858 1 0.217776325 0.001879825 1.64E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 1 249188904 T C - - - - - - 23 0 0 27 1 3.7 48 1 2.1 97 17 17.5 9 0 0 15 0 0 13 2 15.4 0.007248944 15 0 0 TRUE TRUE 0.309058824 0.309058824 1 0.14987529 0.14987529 1 0.817767217 0.817767217 1 0 0 1 1.099085458 1.099085458 1 0 0 1 6 7 1 1 0.126579904 1 0.213845552 0.001879825 1.97E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 120432304 G T - - - - - - 23 0 0 31 0 0 35 5 14.3 58 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.843657817 0.843657817 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.000000895 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 494463 G T DIP2C CCDS7054.1 r.? - - intronic 26 0 0 39 5 12.8 14 2 14.3 76 14 18.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.581176471 1.581176471 1 1.363306916 1.363306916 1 1.153069576 1.153069576 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000156 1 0.002185852 1 3.14E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 762493 C T - - - - - - 20 0 0 51 0 0 42 0 0 112 14 12.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.78333531 0.78333531 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 9.28E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 93519491 A G TFPI2 CCDS5632.1 r.542u>c c.229T>C p.Y77H missense 24 0 0 25 2 8 10 1 10 53 20 37.7 146 0 0 56 3 5.4 121 26 21.5 7.75E-27 149 45 30.2 TRUE TRUE 0.588235294 0.588235294 1 0.589970501 0.589970501 1 1.187401575 1.187401575 1 0.397058824 0.397058824 1 1.268436578 1.268436578 1 0.951181102 0.951181102 1 9 11 1 1 0.006948068 0.00284314 0.04888987 1.83E-34 1.65E-32 5.28E-66 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 10 3126991 T G PFKP CCDS7059.1 r.? - - intronic 8 0 0 19 5 26.3 13 0 0 81 7 8.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.248823529 1.082941176 3 0 0 1 0.538934693 0.538934693 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.43E-08 1 1 1 0.000000197 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 4944110 C A - - - - - - 18 0 0 30 3 10 21 2 9.5 141 44 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.235294118 1.235294118 1 0.905693405 0.905693405 1 1.955204933 0.977602466 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000458697 1 0.004928472 1 2.62E-65 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 482768 C T DIP2C CCDS7054.1 r.? - - intronic 18 0 0 30 5 16.7 9 1 11.1 78 11 14.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.062941176 2.062941176 1 1.058231242 1.058231242 1 0.883602229 0.883602229 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 0.044110422 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 634205 G C DIP2C CCDS7054.1 r.? - - intronic 29 0 0 42 0 0 10 3 30 113 2 1.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 2.860084438 2.860084438 1 0.112800285 0.112800285 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000146 1 0.110164676 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 6705562 C T - - - - - - 32 0 0 53 0 0 67 0 0 122 13 10.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.670535025 0.670535025 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 8.08E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 7057494 C G - - - - - - 22 0 0 51 2 3.9 56 2 3.6 126 7 5.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.481764706 0.481764706 1 0.343210133 0.343210133 1 0.350934219 0.350934219 1 NA NA 1 NA NA 1 NA NA 1 4 NA 1 1 0.027109304 1 0.032213353 1 0.00000392 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 10774562 C G - - - - - - 28 0 0 36 0 0 36 0 0 89 12 13.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.723783712 0.723783712 1 NA NA 1 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 4.06E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 12967716 T G CCDC3 CCDS7093.1 r.? - - intronic 20 0 0 42 0 0 25 1 4 108 3 2.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.355988201 0.355988201 1 0.150118103 0.708925119 0.211754527 NA NA 1 NA NA 1 NA NA 0 6 NA 1 1 1 1 0.117779757 1 0.01729224 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 14089203 C G FRMD4A CCDS7101.1 r.? - - intronic 37 0 0 62 0 0 66 0 0 139 25 18 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.965044949 0.965044949 1 NA NA 1 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 4.19E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 15276814 G T FAM171A1 CCDS31154.1 r.? - - intronic 28 0 0 43 0 0 9 0 0 110 18 16.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.879263175 0.879263175 1 NA NA 1 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 4.92E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 21620492 A G - - - - - - 13 0 0 39 4 10.3 12 0 0 75 21 28 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.963352941 0.963352941 1 0 0 1 1.206336602 1.206336602 1 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 0.0000447 1 1 1 7.75E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 21893785 C G MLLT10 CCDS7135.1 r.? - - intronic 30 0 0 36 3 8.3 56 2 3.6 84 15 17.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.776294118 0.776294118 1 0.29833711 0.770027562 0.387436924 0.771193757 0.771193757 1 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 0.000788827 1 0.032213353 1 3.27E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 22556704 C T ENSG00000224369 ENST00000412505 r.? - - intronic 41 0 0 50 5 10 25 2 8 97 21 21.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.935294118 0.935294118 1 0.662971355 0.662971355 1 0.930602522 0.930602522 1 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 0.00000549 1 0.006948068 1 3.31E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 26373775 G T MYO3A CCDS7148.1 r.? - - intronic 34 0 0 38 4 10.5 46 5 10.9 92 26 28.3 0 0 NA 0 0 NA 0 0 NA 1 1 1 100 TRUE FALSE 0.982058824 0.982058824 1 0.903298471 0.903298471 1 1.219261638 1.219261638 1 NA NA 0 NA NA 1 4.308345009 4.308345009 1 9 NA 1 1 0.0000403 1 0.00000361 1 6.14E-38 0.005 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 27209497 G C - - - - - - 31 0 0 40 0 0 19 0 0 100 27 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 1.163253152 1.163253152 1 NA NA 0 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 1E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 27604438 A C ENSG00000223846 ENST00000432349 r.? - - intronic 28 0 0 49 2 4.1 57 4 7 81 5 6.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.383470588 0.383470588 1 0.580099936 0.580099936 1 0.267117391 1.68274891 0.15873871 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 0.025168485 1 0.000199821 1 0.0000584 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 27688489 A G PTCHD3 ENST00000438700 r.? - - intronic 24 0 0 29 0 0 46 0 0 87 13 14.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.641943406 0.641943406 1 NA NA 0 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 8.85E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 5004849 T G AKR1C1 CCDS7061.1 r.? - - upstream 13 0 0 16 1 6.2 14 4 28.6 20 7 35 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.765882353 0.765882353 1 2.726613831 0.908871277 3 2.193338867 1.096669433 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.077068876 1 0.000000601 1 5.72E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 30018614 G A SVIL CCDS7164.1 r.? - - intronic 12 0 0 19 1 5.3 9 1 11.1 28 5 17.9 1 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.495705882 0.495705882 1 0.919872755 0.919872755 1 0.771193757 0.771193757 1 NA NA 0 NA NA 1 NA NA 0 9 NA 1 1 0.090843738 1 0.044110422 1 0.000000279 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 30792638 T A - - - - - - 16 0 0 52 0 0 28 0 0 111 26 23.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 1.008152732 1.008152732 1 NA NA 0 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 1.53E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 37402122 T C - - - - - - 7 0 0 19 6 31.6 19 2 10.5 12 6 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.323529412 2.323529412 1 0.619469027 0.619469027 1 1.171198144 1.171198144 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 4.01E-10 1 0.004039874 1 1.41E-11 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 10308678 C T - - - - - - 31 0 0 55 3 5.5 48 6 12.5 132 22 16.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.569411765 0.569411765 1 1.112463127 1.112463127 1 0.895347258 0.895347258 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.002700822 1 0.00000016 1 8.82E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 57666200 C T - - - - - - 28 1 3.6 28 4 14.3 46 10 21.7 42 16 38.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 1.063235988 1.063235988 1 0.819 0.819 1 NA NA 1 NA NA 1 NA NA 1 9 NA 0.130947004 1 0.0000116 1 3.38E-14 1 2.25E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 63176835 G A TMEM26 CCDS41530.1 r.? - - intronic 22 0 0 33 0 0 34 0 0 30 9 30 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.64488189 0.64488189 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 67133506 C T - - - - - - 31 0 0 22 1 4.5 33 3 9.1 52 25 48.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.285882353 0.285882353 1 0.445873156 0.445873156 1 1.03396063 1.03396063 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.104413009 1 0.000609557 1 1.25E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 67638896 G T - - - - - - 21 0 0 17 0 0 8 1 12.5 26 10 38.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.612463127 0.612463127 1 0.827598425 0.827598425 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 0.039306956 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 74327842 G C CBARA1 ENST00000398761 r.? - - intronic 31 0 0 22 0 0 24 0 0 49 12 24.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.526653543 0.526653543 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.9E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 81599746 A T FAM22E ENST00000429984 r.? - - upstream 14 0 0 22 6 27.3 18 3 16.7 40 16 40 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.734352941 1.734352941 1 0.818250737 0.818250737 1 0.85984252 0.85984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.09E-09 1 0.0000964 1 8.56E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 91626106 A G - - - - - - 26 0 0 34 0 0 28 0 0 41 16 39 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.838346457 0.838346457 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.4E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 99235513 C T MMS19 CCDS7464.1 r.? - - intronic 40 0 0 23 0 0 22 0 0 46 8 17.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.374031496 0.374031496 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 117647170 G A ATRNL1 CCDS7592.1 r.? - - intronic 30 1 3.3 35 5 14.3 37 6 16.2 43 23 53.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 0.793752212 0.793752212 1 1.15003937 1.15003937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 0.139615808 1 0.000000895 1 3.18E-08 1 1.04E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 14976282 G A DCLRE1C CCDS7105.1 r.? - - intronic 18 0 0 42 18 42.9 33 16 48.5 109 81 74.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 4.441411765 1.110352941 4 4.316356932 1.079089233 4 3.983491094 0.995872773 4 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.2E-30 1 1.64E-28 1 2.94E-161 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 123342007 C T FGFR2 CCDS44486.1 r.? - - intronic 26 0 0 75 0 0 20 0 0 55 11 20 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.42992126 0.42992126 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 4.77E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 128963942 C G DOCK1 ENST00000398025 r.? - - intronic 29 0 0 32 0 0 32 0 0 42 13 31 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.666377953 0.666377953 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 2.72E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 133109262 C A TCERG1L CCDS7662.2 r.? - - intronic 24 0 0 9 1 11.1 2 0 0 27 12 44.4 108 0 0 7 0 0 16 2 12.5 0.010932892 4 2 50 FALSE TRUE 0.705176471 0.705176471 1 0 NA 0 0.954425197 0.954425197 1 0 0 1 0.674124052 0.674124052 1 1.07480315 1.07480315 1 NA 11 1 1 0.044110422 1 1 0.002863359 3.96E-21 0.000149002 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 134977573 A T KNDC1 CCDS7674.1 r.? - - intronic 24 0 0 24 2 8.3 5 1 20 27 5 18.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.527294118 0.527294118 1 1.078598483 1.078598483 1 0.397677165 0.397677165 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.006413403 1 0.024751247 1 0.00000023 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 8945539 C G C11orf16 CCDS7794.1 r.? - - intronic 29 0 0 15 2 13.3 28 1 3.6 54 19 35.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.977941176 0.977941176 1 0.212389381 0.212389381 1 1.108661417 1.108661417 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.002513772 1 0.130947004 1 2.97E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 9203764 G A DENND5A CCDS31423.1 r.? - - intronic 36 0 0 35 1 2.9 30 1 3.3 74 25 33.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.213235294 0.213235294 1 0.194690265 0.194690265 1 1.064566929 1.064566929 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.16091139 1 0.139615808 1 8.25E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 12047763 C T - - - - - - 35 0 0 28 1 3.6 32 3 9.4 67 20 29.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.264705882 0.264705882 1 0.554572271 0.554572271 1 0.941732283 0.941732283 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.130947004 1 0.000556213 1 4.42E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 15784306 G A - - - - - - 39 0 0 28 0 0 25 0 0 77 26 33.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 1.064566929 1.064566929 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.7E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 23080931 G C - - - - - - 22 0 0 24 0 0 37 2 5.4 75 12 16 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.372584071 0.372584071 1 0.663937008 0.663937008 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 1 1 0.014826063 1 4.77E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 27894628 T A - - - - - - 33 0 0 34 1 2.9 56 3 5.4 76 16 21.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.271235294 0.271235294 1 0.447505665 0.447505665 1 0.909060797 0.909060797 1 NA NA 0 NA NA 1 NA NA 0 6 NA 1 1 0.156694864 1 0.00284314 1 1.25E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 24623081 G C LUZP2 CCDS31446.1 r.? - - intronic 23 0 0 53 2 3.8 44 4 9.1 79 20 25.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.317411765 0.317411765 1 0.627873156 0.627873156 1 1.049850394 1.049850394 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.029108399 1 0.0000723 1 1.91E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 25067802 G A LUZP2 CCDS31446.1 r.? - - intronic 26 0 0 33 3 9.1 43 7 16.3 76 18 23.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.760117647 0.760117647 1 1.124651917 1.124651917 1 0.983456693 0.983456693 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000609557 1 2.15E-09 1 3.63E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 25380665 A G - - - - - - 50 0 0 35 2 5.7 33 0 0 76 18 23.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.476117647 0.476117647 1 0 0 1 0.983456693 0.983456693 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.013332991 1 1 1 3.63E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 25922410 G A - - - - - - 27 0 0 39 1 2.6 48 2 4.2 79 16 20.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.217176471 0.217176471 1 0.289787611 0.289787611 1 0.842370079 0.842370079 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.177567718 1 0.024220359 1 2.45E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 26787925 C G - - - - - - 37 0 0 41 0 0 41 0 0 70 5 7.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.294622047 0.294622047 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.0000289 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 29351963 G T - - - - - - 20 0 0 41 2 4.9 45 3 6.7 95 17 17.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.409294118 0.409294118 1 0.462280236 0.462280236 1 0.742779528 0.742779528 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.018015855 1 0.001516071 1 1.35E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 30123718 G A - - - - - - 28 0 0 37 3 8.1 36 4 11.1 76 19 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.676588235 0.676588235 1 0.765867257 0.765867257 1 1.037401575 1.037401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000855237 1 0.0000324 1 5.56E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 31591942 A G ELP4 CCDS7875.2 r.? - - intronic 26 0 0 37 2 5.4 40 7 17.5 71 17 23.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.451058824 0.451058824 1 1.207448378 1.207448378 1 0.991755906 0.991755906 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.014826063 1 1.26E-09 1 6.12E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 33914646 C T LMO2 CCDS7888.2 r.? - - upstream 30 0 0 31 0 0 19 0 0 89 21 23.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.979307087 0.979307087 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 4.49E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 35805176 T A TRIM44 CCDS31461.1 r.? - - intronic 32 0 0 43 1 2.3 49 1 2 87 23 26.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.192117647 0.192117647 1 0.1379941 0.1379941 1 1.095496063 1.095496063 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.193893409 1 0.217776325 1 5.63E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 36095309 A C LDLRAD3 CCDS31462.1 r.? - - intronic 36 0 0 47 5 10.6 25 2 8 93 24 25.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.885411765 0.885411765 1 0.551976401 0.551976401 1 1.070598425 1.070598425 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000402 1 0.006948068 1 4.66E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 36967417 T C - - - - - - 32 1 3.1 38 3 7.9 50 11 22 78 20 25.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.659882353 0.659882353 1 1.517935103 1.517935103 1 1.062299213 1.062299213 1 NA NA 1 NA NA 1 NA NA 1 9 NA 0.14819814 1 0.000925091 1 1.52E-15 1 1.43E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 37013874 A G - - - - - - 31 0 0 36 2 5.6 41 3 7.3 83 21 25.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.467764706 0.467764706 1 0.503678466 0.503678466 1 1.049850394 1.049850394 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.014070883 1 0.001155993 1 8.7E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 37566032 G A - - - - - - 29 0 0 47 3 6.4 46 4 8.7 90 22 24.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.534588235 0.534588235 1 0.600274336 0.600274336 1 1.012503937 1.012503937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001719595 1 0.0000862 1 9.17E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 37937673 C G - 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- - - - - 42 0 0 34 2 5.9 44 1 2.3 90 26 28.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.492823529 0.492823529 1 0.158693215 0.158693215 1 1.19923622 1.19923622 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.012612579 1 0.197923942 1 3.18E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 40469375 G C - - - - - - 39 0 0 35 0 0 31 0 0 68 12 17.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.730330709 0.730330709 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.37E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 40618677 C T - - - - - - 30 0 0 34 3 8.8 35 4 11.4 72 19 26.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735058824 0.735058824 1 0.786566372 0.786566372 1 1.095496063 1.095496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000666058 1 0.0000289 1 1.75E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 40933517 G T - - - - - - 34 0 0 32 1 3.1 40 2 5 64 13 20.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.258941176 0.258941176 1 0.344985251 0.344985251 1 0.842370079 0.842370079 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.14819814 1 0.017193422 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 43664997 G C - 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- - - - - 24 0 0 24 1 4.2 27 7 25.9 53 15 28.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.308823529 0.308823529 1 1.528023599 1.528023599 1 0.891338583 0.891338583 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.113346489 1 6.36E-11 1 1.6E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 47355132 T G - - - - - - 27 0 0 20 3 15 29 0 0 30 1 3.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.952941176 0.952941176 1 0 0 1 0.087363768 0.087363768 1 NA NA 0 NA NA 1 NA NA 1 8 NA 1 1 0.0001337 1 1 1 0.139615808 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 60773290 C G CD6 CCDS7999.1 r.? - - intronic 25 0 0 33 0 0 27 0 0 44 18 40.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.879188976 0.879188976 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 3.47E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 65891522 G A PACS1 CCDS8129.1 r.? - - intronic 29 0 0 30 0 0 48 0 0 106 7 6.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.328436053 0.328436053 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 0.00000124 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 66688556 G C PC CCDS8152.1 r.? - - intronic 28 0 0 36 2 5.6 25 2 8 102 18 17.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.523764706 0.523764706 1 0.391976401 0.391976401 1 0.875829475 0.875829475 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.014070883 1 0.006948068 1 1.16E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 66944135 C G KDM2A CCDS44657.1 r.? - - intronic 28 0 0 43 0 0 50 0 0 123 16 13 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.646919499 0.782534687 0.826697537 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 4.36E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 69286060 C A - - - - - - 26 0 0 17 1 5.9 1 0 0 58 14 24.1 61 0 0 14 0 0 17 2 11.8 0.012308986 7 0 0 FALSE TRUE 0.551823529 0.551823529 1 0 NA 0 1.199289225 1.199289225 1 0 0 1 0.578165192 0.578165192 1 0 0 1 NA 7 1 1 0.081683532 1 1 0.003234386 5.04E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 70140085 G A PPFIA1 CCDS31627.1 r.? - - intronic 28 0 0 23 5 21.7 14 3 21.4 69 19 27.5 0 0 NA 1 0 0 0 0 NA 1 0 0 NA TRUE FALSE 2.029588235 2.029588235 1 1.048536873 1.048536873 1 1.368483555 1.368483555 1 0 0 1 NA NA 0 NA NA 1 9 NA 1 1 9.75E-08 1 0.0000437 1 6.95E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 70442099 G C SHANK2 ENST00000338508 r.? - - intronic 28 0 0 43 0 0 16 1 6.2 111 23 20.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0.303781711 NA 0 1.030094894 1.030094894 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.077068876 1 2.87E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 70469299 T C SHANK2 ENST00000338508 r.? - - intronic 38 0 0 35 1 2.9 8 2 25 86 13 15.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.271235294 0.271235294 1 1.224926254 1.224926254 1 0.751421879 0.751421879 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.16091139 1 0.000686131 1 7.57E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 78884119 C A ODZ4 CCDS44688.1 r.? - 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- - - - - 32 0 0 33 2 6.1 46 4 8.7 66 21 31.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.448529412 0.448529412 1 0.513274336 0.513274336 1 1.001574803 1.001574803 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.011909843 1 0.0000862 1 3.42E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 89245307 A G - - - - - - 34 0 0 31 2 6.5 43 3 7 66 19 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.477941176 0.477941176 1 0.412979351 0.412979351 1 0.907086614 0.907086614 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.010558179 1 0.001328364 1 2.64E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 89792840 C T ENSG00000223709 ENST00000436580 r.? - - intronic 9 0 0 11 1 9.1 10 0 0 18 4 22.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.669117647 0.669117647 1 0 0 1 0.699212598 0.699212598 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.05364542 1 1 1 0.00000181 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 90133421 A G - 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- intronic 29 0 0 37 1 2.7 32 2 6.2 56 12 21.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.192972991 NA 0 0.365781711 0.365781711 1 0.674015748 0.674015748 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 0.169281299 1 0.011224977 1 1.11E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 101716916 C T - - - - - - 31 0 0 37 3 8.1 30 3 10 77 24 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.578918974 0.578918974 1 0.589970501 0.589970501 1 0.982677165 0.982677165 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000855237 1 0.000458697 1 2.53E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 104993394 T A - - - - - - 23 0 0 25 2 8 45 3 6.7 60 23 38.3 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.571771826 0.571771826 1 0.395280236 0.395280236 1 1.206299213 1.206299213 1 NA NA 0 NA NA 1 NA NA 1 6 NA 1 1 0.006948068 1 0.001516071 1 2.33E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 105372108 C T - - - - - - 35 0 0 29 0 0 33 3 9.1 58 13 22.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 NA 0 0.536873156 0.536873156 1 0.705511811 0.705511811 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 1 1 0.000609557 1 3.12E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 76135321 G T TMC8 CCDS32749.1 r.2284g>u c.1902G>T p.W634C missense 26 0 0 44 0 0 10 3 30 65 0 0 196 0 0 19 0 0 20 0 0 1 15 0 0 TRUE FALSE 0 0 1 1.810811948 1.810811948 1 0 0 1 0 0 1 0 NA 0 0 0 1 3 NA 1 1 1 1 0.0000146 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 106770685 G A GUCY1A2 CCDS8335.1 r.? - - intronic 18 0 0 30 4 13.3 16 1 6.2 51 12 23.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.95057066 0.95057066 1 0.365781711 0.365781711 1 0.74015748 0.74015748 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.0000154 1 0.077068876 1 3.24E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 107352141 C T - - - - - - 19 0 0 12 1 8.3 33 4 12.1 57 10 17.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.593213269 0.593213269 1 0.713864307 0.713864307 1 0.551181102 0.551181102 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.058377193 1 0.0000228 1 3.4E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 110442980 C T ARHGAP20 CCDS31673.1 r.? - - downstream 33 0 0 28 2 7.1 38 4 10.5 64 22 34.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.507447495 0.507447495 1 0.619469027 0.619469027 1 1.083464567 1.083464567 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.008668191 1 0.0000403 1 1.57E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 116142866 G A - - - - - - 44 0 0 26 0 0 30 0 0 66 13 19.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 NA 0 0 0 1 0.620472441 0.620472441 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 1 1 1 1 1.95E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 100440931 T C HPSE2 CCDS7477.1 r.? - - intronic 31 0 0 26 6 23.1 20 5 25 47 26 55.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.467529412 1.467529412 1 1.224926254 1.224926254 1 1.188732283 1.188732283 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.3E-09 1 4.55E-08 1 1.69E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 130529094 G A - - - - - - 35 0 0 28 1 3.6 27 1 3.7 63 26 41.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.257297322 NA 0 0.218289086 0.218289086 1 1.300787402 1.300787402 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 0.130947004 1 0.126579904 1 4.45E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 131440228 G A OPCML CCDS41733.1 r.? - - intronic 22 0 0 31 1 3.2 25 5 20 66 24 36.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.22870873 NA 0 1.179941003 1.179941003 1 1.146456693 1.146456693 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 0.143917729 1 0.000000153 1 3.04E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 133590217 C A - - - - - - 32 0 0 31 2 6.5 14 1 7.1 65 21 32.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.464564608 0.464564608 1 0.418879056 0.418879056 1 1.017322835 1.017322835 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.010558179 1 0.067769881 1 2.35E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 134315896 G T - - - - - - 33 0 0 27 2 7.4 18 2 11.1 68 26 38.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.528888939 0.528888939 1 0.654867257 0.654867257 1 1.203149606 1.203149606 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00807567 1 0.003626632 1 5.33E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 134394278 T A - - - - - - 18 0 0 15 2 13.3 12 2 16.7 45 17 37.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.95057066 0.95057066 1 0.985250737 0.985250737 1 1.190551181 1.190551181 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.002513772 1 0.001595918 1 7.37E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 686626 C T NINJ2 CCDS8505.1 r.? - - intronic 16 0 0 18 0 0 22 3 13.6 60 10 16.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.980176318 0.980176318 1 1.026984252 1.026984252 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1 1 0.000179267 1 5.86E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 857451 G C WNK1 CCDS8506.1 r.? - - upstream 28 0 0 46 3 6.5 56 5 8.9 118 21 17.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.672941176 0.672941176 1 0.641438914 0.641438914 1 1.094629921 1.094629921 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.001615827 1 0.00000965 1 2.86E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 10 121937771 C A - - - - - - 38 0 0 39 2 5.1 36 5 13.9 44 29 65.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.324 0.324 1 0.681058997 0.681058997 1 1.416590551 1.416590551 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.016387522 1 0.00000104 1 3.98E-56 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 4428530 T C C12orf5 CCDS8525.1 r.? - - upstream 35 0 0 40 2 5 46 2 4.3 134 21 15.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.517647059 0.517647059 1 0.309908689 1.007919026 0.307473796 0.965488189 0.965488189 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.017193422 1 0.022369545 1 4.86E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 7126809 A G C1S CCDS31735.1 r.? - - intronic 26 0 0 56 0 0 57 0 0 120 12 10 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.61496063 0.61496063 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 1.56E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 8268673 C T - - - - - - 30 0 0 41 3 7.3 35 2 5.7 130 23 17.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.755764706 0.755764706 1 0.410809192 0.410809192 1 1.088480315 1.088480315 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.001155993 1 0.013332991 1 1.45E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 8402399 G A - - - - - - 35 0 0 41 3 7.3 25 2 8 134 30 22.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.755764706 0.755764706 1 0.576574305 0.576574305 1 1.377511811 0.688755906 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.001155993 1 0.006948068 1 4.1E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 8953983 A G - - - - - - 39 0 0 39 2 5.1 59 2 3.4 144 20 13.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.528 0.528 1 0.24504408 0.79695923 0.307473796 0.854795276 0.854795276 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.016387522 1 0.035441897 1 8E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 10043376 C T - - - - - - 28 0 0 43 2 4.7 68 3 4.4 127 24 18.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.486588235 0.486588235 1 0.317115868 1.031359004 0.307473796 1.162275591 1.162275591 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.019709573 1 0.004916956 1 1.78E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 10667883 A G ENSG00000180574 ENST00000322446 r.? - - intronic 34 0 0 50 4 8 37 2 5.4 125 26 20.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.828235294 0.828235294 1 0.389187656 0.389187656 1 1.27911811 1.27911811 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000119787 1 0.014826063 1 4.62E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 11737577 C A - - - - - - 37 0 0 43 0 0 58 1 1.7 143 27 18.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0.12252204 NA 0 1.162275591 1.162275591 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.252280541 1 4.44E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 15441415 C A - - - - - - 35 0 0 30 3 10 50 2 4 82 20 24.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.835294118 0.835294118 1 0.275988201 0.275988201 1 1.012503937 1.012503937 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.000458697 1 0.026131524 1 4.4E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 15897532 G C EPS8 CCDS31753.1 r.? - - intronic 27 0 0 31 2 6.5 31 5 16.1 79 24 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.542941176 0.542941176 1 1.110852507 1.110852507 1 1.261480315 1.261480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.010558179 1 0.000000476 1 5.2E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 16444682 C T - - - - - - 41 0 0 36 2 5.6 44 4 9.1 77 18 23.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.467764706 0.467764706 1 0.627873156 0.627873156 1 0.971007874 0.971007874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.014070883 1 0.0000723 1 4.71E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 19845275 C G - - - - - - 42 0 0 38 3 7.9 42 2 4.8 84 15 17.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.659882353 0.659882353 1 0.331185841 0.331185841 1 0.742779528 0.742779528 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000925091 1 0.018854633 1 3.27E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 23799005 T A SOX5 CCDS8699.1 r.? - - intronic 35 0 0 34 2 5.9 36 2 5.6 72 13 18.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.492823529 0.492823529 1 0.386383481 0.386383481 1 0.75107874 0.75107874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.012612579 1 0.014070883 1 6.58E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 23947211 G A SOX5 CCDS8699.1 r.? - - intronic 39 0 0 22 0 0 41 4 9.8 75 14 18.7 8 0 0 174 12 6.9 240 32 13.3 8.46E-26 266 53 19.9 TRUE TRUE 0 0 1 0.676171091 0.676171091 1 0.775976378 0.775976378 1 0.576352941 0.576352941 1 0.917660767 0.917660767 1 0.825771654 0.825771654 1 9 11 1 1 1 1.26E-10 0.0000546 5.43E-35 2.57E-18 1.16E-66 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 24204300 C A - - - - - - 34 0 0 42 3 7.1 34 2 5.9 78 26 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.593058824 0.593058824 1 0.407082596 0.407082596 1 1.381818898 0.690909449 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001240292 1 0.012612579 1 4.04E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 3543110 A G - - - - - - 23 1 4.3 18 4 22.2 23 2 8.7 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.410352941 1.410352941 1 0.446186527 0.446186527 1 0.358984252 0.358984252 1 NA NA 1 NA NA 0 NA NA 1 9 NA 0.108890944 1 0.00000181 1 0.00589844 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 24633924 G A - - - - - - 31 0 0 29 2 6.9 48 4 8.3 86 15 17.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.576352941 0.576352941 1 0.572675516 0.572675516 1 0.722031496 0.722031496 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009279585 1 0.000102016 1 4.76E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 24979026 G A BCAT1 CCDS44845.1 r.? - - intronic 33 0 0 33 2 6.1 49 2 4.1 84 22 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.509529412 0.509529412 1 0.282887906 0.282887906 1 1.08719685 1.08719685 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.011909843 1 0.025168485 1 1.66E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 25350385 C T CASC1 CCDS41763.1 r.? - - upstream 33 0 0 35 0 0 37 0 0 100 28 28 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 1.161889764 1.161889764 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.31E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 26939625 G T ITPR2 CCDS41764.1 r.? - - intronic 34 0 0 35 0 0 45 0 0 101 12 11.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.49380315 0.49380315 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 1.93E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 30465288 G A - - - - - - 32 0 0 33 2 6.1 50 3 6 91 24 26.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.509529412 0.509529412 1 0.413982301 0.413982301 1 1.095496063 1.095496063 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.011909843 1 0.002055544 1 2.58E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 30855751 A C - - - - - - 28 0 0 47 2 4.3 40 6 15 80 14 17.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.359176471 0.359176471 1 1.034955752 1.034955752 1 0.726181102 0.726181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.02328732 1 5.18E-08 1 6.76E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 34319002 G A AC046130.1 ENST00000501954 r.? - - intronic 40 0 0 34 4 11.8 22 2 9.1 82 20 24.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.985647059 0.985647059 1 0.627873156 0.627873156 1 1.012503937 1.012503937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 0.005403392 1 4.4E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 34729033 C A - - - - - - 30 0 0 43 0 0 52 0 0 90 11 12.2 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.506251969 0.506251969 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.41E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 34729044 A T - - - - - - 34 0 0 45 0 0 51 0 0 84 13 15.5 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.643188976 0.643188976 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 5.49E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 38970964 C T - - - - - - 27 0 0 36 1 2.8 38 0 0 72 14 19.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.205882353 0.205882353 1 0 0 1 0.598417634 0.640004704 0.935020682 NA NA 1 NA NA 1 NA NA 0 2 NA 1 1 0.165106833 1 1 1 1.39E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 40195297 C T SLC2A13 CCDS8736.2 r.? - - intronic 30 0 0 30 3 10 37 4 10.8 55 17 30.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 0.637168142 0.637168142 1 0.953149737 0.953149737 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000458697 1 0.0000362 1 4.35E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 42652648 C T - - - - - - 13 0 0 14 2 14.3 7 2 28.6 34 13 38.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 1.687315634 1.687315634 1 1.178327507 1.178327507 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.002185852 1 0.000516315 1 1.03E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 42783269 G A PPHLN1 CCDS31777.1 r.? - - intronic 34 0 0 27 0 0 15 0 0 63 17 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.832849285 0.832849285 1 NA NA 1 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 6.22E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 4860026 G A MMP26 CCDS7752.1 r.? - - intronic 26 0 0 26 6 23.1 24 3 12.5 35 18 51.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.467529412 1.467529412 1 0.641072596 0.641072596 1 1.104897638 1.104897638 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 3.3E-09 1 0.000233853 1 1.6E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 44899564 A T NELL2 CCDS8746.1 r.? - - downstream 40 0 0 41 3 7.3 37 2 5.4 77 25 32.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.536764706 0.536764706 1 0.318584071 0.318584071 1 1.002503769 1.002503769 1 NA NA 1 NA NA 1 NA NA 0 6 NA 1 1 0.001155993 1 0.014826063 1 2.69E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 58082032 G T - - - - - - 30 0 0 32 0 0 40 0 0 77 22 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.882203317 0.882203317 1 NA NA 1 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 1.86E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 59864784 T G - - - - - - 46 0 0 38 4 10.5 34 3 8.8 80 20 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.772058824 0.772058824 1 0.519174041 0.519174041 1 0.771156745 0.771156745 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000403 1 0.000666058 1 2.53E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 63573309 C A - - - - - - 31 0 0 24 0 0 17 2 11.8 62 20 32.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.696165192 0.696165192 1 0.996334515 0.996334515 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1 1 0.003234386 1 7.19E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 68420446 G A - - - - - - 30 0 0 38 0 0 29 0 0 68 15 22.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.681702563 0.729077523 0.935020682 NA NA 1 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 1.06E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 72947743 T G TRHDE CCDS9004.1 r.? - - intronic 25 0 0 32 1 3.1 17 0 0 69 15 21.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.227941176 0.227941176 1 0 0 1 0.669364055 0.71588155 0.935020682 NA NA 1 NA NA 1 NA NA 0 2 NA 1 1 0.14819814 1 1 1 1.34E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 74121550 T A - - - - - - 30 0 0 39 0 0 28 0 0 63 5 7.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.243685531 0.243685531 1 NA NA 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 1 1 0.0000173 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 75914446 T C - - - - - - 29 0 0 30 0 0 34 0 0 72 7 9.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.299208817 0.299208817 1 NA NA 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 1 1 8.66E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 77589163 C T - - - - - - 23 0 0 37 0 0 34 0 0 56 19 33.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 1.045688547 1.045688547 1 NA NA 1 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 6.79E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 81358898 G C - - - - - - 43 0 0 31 2 6.5 35 4 11.4 55 13 23.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.477941176 0.477941176 1 0.672566372 0.672566372 1 0.727971967 0.727971967 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.010558179 1 0.0000289 1 1.46E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 92080703 G C - - - - - - 38 0 0 32 2 6.2 44 3 6.8 71 28 39.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.455882353 0.455882353 1 0.401179941 0.401179941 1 1.21534303 1.21534303 1 NA NA 1 NA NA 1 NA NA 0 6 NA 1 1 0.011224977 1 0.00142027 1 1.4E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 92427861 T A - - - - - - 31 1 3.2 33 4 12.1 31 4 12.9 54 14 25.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 0.761061947 0.761061947 1 0.798918388 0.798918388 1 NA NA 1 NA NA 1 NA NA 0 9 NA 0.143917729 1 0.0000228 1 0.0000177 1 1.64E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 95681349 G T VEZT CCDS44954.1 r.? - - intronic 34 0 0 43 0 0 33 0 0 67 6 9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.277616428 0.277616428 1 NA NA 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 1 1 0.0000012 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 96175410 T G NTN4 CCDS9054.1 r.? - - intronic 32 0 0 42 0 0 40 0 0 57 21 36.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 1.135142729 1.135142729 1 NA NA 1 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 8.56E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 96735590 T C CDK17 CCDS9061.1 r.? - - intronic 27 0 0 33 1 3 40 3 7.5 58 9 15.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.220588235 0.220588235 1 0.442477876 0.442477876 1 0.478117182 0.478117182 1 NA NA 1 NA NA 1 NA NA 0 5 NA 1 1 0.15245715 1 0.001075403 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 101004736 G T GAS2L3 CCDS9079.1 r.? - - intronic 26 0 0 43 1 2.3 36 4 11.1 53 17 32.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.169117647 0.169117647 1 0.654867257 0.654867257 1 0.990165261 0.990165261 1 NA NA 1 NA NA 1 NA NA 0 6 NA 1 1 0.193893409 1 0.0000324 1 2.08E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 105080043 C T CHST11 CCDS9099.1 r.? - - intronic 20 0 0 26 5 19.2 12 3 25 41 25 61 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.411764706 1.411764706 1 1.474926254 1.474926254 1 1.881622458 1.881622458 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000000188 1 0.0000266 1 2.84E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 106985295 C T RFX4 CCDS9106.1 r.? - - intronic 34 0 0 37 0 0 24 0 0 58 13 22.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.690956444 0.690956444 1 NA NA 1 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 3.12E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 107548942 G C - - - - - - 27 0 0 30 4 13.3 21 1 4.8 62 24 38.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.977941176 0.977941176 1 0.283185841 0.283185841 1 1.193750642 1.193750642 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000154 1 0.099912572 1 4.81E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 112058376 T A - - - - - - 26 0 0 34 2 5.9 29 2 6.9 55 4 7.3 0 0 NA 0 0 NA 1 0 0 1 0 0 NA TRUE FALSE 0.433823529 0.433823529 1 0.407079646 0.407079646 1 0.22517777 0.22517777 1 NA NA 1 0 0 1 NA NA 0 4 NA 1 1 0.012612579 1 0.009279585 1 0.000173903 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146343864 G C CNTNAP2 CCDS5889.1 r.? - - intronic 23 0 0 39 3 7.7 42 2 4.8 82 14 17.1 307 0 0 412 28 6.8 560 50 8.9 5.85E-31 571 69 12.1 TRUE TRUE 0.566176471 0.566176471 1 0.312087075 0.518323173 0.602109054 0.538582677 0.538582677 1 0.5 0.5 1 0.578661452 0.961057549 0.602109054 0.381102362 0.381102362 1 9 8 1 1 0.000998458 1.23E-22 0.018854633 6.42E-45 9.77E-18 1.85E-70 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 12 119065726 C T - - - - - - 24 0 0 23 0 0 29 0 0 48 13 27.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.835933912 0.835933912 1 NA NA 1 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 2E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 122109719 G T MORN3 CCDS31917.1 r.? - - upstream 27 0 0 28 2 7.1 16 3 18.8 71 24 33.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.522058824 0.522058824 1 1.109144543 1.109144543 1 1.04260392 1.04260392 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.008668191 1 0.0000667 1 2.52E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 123497566 G A PITPNM2 CCDS9242.1 r.? - - intronic 28 1 3.6 27 6 22.2 15 1 6.7 80 26 32.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.632352941 1.632352941 1 0.395280236 0.395280236 1 1.002503769 1.002503769 1 NA NA 1 NA NA 1 NA NA 0 9 NA 0.130947004 1 4.23E-09 1 0.072431031 1 8.83E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146343881 G T CNTNAP2 CCDS5889.1 r.? - - intronic 24 0 0 37 2 5.4 47 2 4.3 82 15 18.3 296 0 0 427 28 6.6 564 52 9.2 8.24E-33 578 70 12.1 TRUE TRUE 0.397058824 0.397058824 1 0.279578005 0.464331175 0.602109054 0.576377953 0.576377953 1 0.485294118 0.485294118 1 0.598166894 0.993452748 0.602109054 0.381102362 0.381102362 1 5 8 1 1 0.014826063 3.22E-22 0.02328732 2.29E-47 2.22E-19 1.59E-71 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 12 127836302 C T - - - - - - 27 0 0 33 2 6.1 9 1 11.1 55 17 30.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.448529412 0.448529412 1 0.654867257 0.654867257 1 0.953149737 0.953149737 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.011909843 1 0.044110422 1 4.35E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 128216800 A G - - - - - - 22 0 0 33 0 0 39 0 0 74 18 24.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.749564356 0.749564356 1 NA NA 1 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 2.13E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146343897 G C CNTNAP2 CCDS5889.1 r.? - - intronic 30 0 0 37 3 8.1 46 3 6.5 87 18 20.7 293 0 0 427 31 7.3 570 58 10.2 9.34E-39 574 67 11.7 TRUE TRUE 0.595588235 0.595588235 1 0.422617914 0.422617914 1 0.651968504 0.651968504 1 0.536764706 0.536764706 1 0.663185035 1.101436742 0.602109054 0.368503937 0.368503937 1 9 8 1 1 0.000855237 9.49E-26 0.001615827 4.08E-55 5.29E-24 1.94E-67 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 12 131770711 T C - - - - - - 29 0 0 22 3 13.6 11 1 9.1 41 12 29.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1 1 1 0.536873156 0.536873156 1 0.903795705 0.903795705 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000179267 1 0.05364542 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 132857595 G T GALNT9 CCDS41866.1 r.? - - intronic 32 0 0 26 2 7.7 3 2 66.7 34 14 41.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.566176471 0.566176471 1 3.268103245 3.268103245 1 1.270866316 1.270866316 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.007502227 1 0.0000748 1 7.74E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 24172427 G T TNFRSF19 CCDS9301.1 r.? - - intronic 27 0 0 25 0 0 31 0 0 54 5 9.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 NA 0 0 0 1 0.210844862 0.210844862 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 1 1 1 1 0.00000806 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 24173104 G C TNFRSF19 CCDS9301.1 r.? - - intronic 29 0 0 27 0 0 27 0 0 41 4 9.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.222180607 0.222180607 1 NA NA 0 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.0000546 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 27274980 G A - - - - - - 13 0 0 20 5 25 8 2 25 43 15 34.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.838235294 1.838235294 1 1.440040882 1.440040882 1 1.147956839 1.147956839 1 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 4.55E-08 1 0.000686131 1 4.05E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 30975211 G T - - - - - - 29 0 0 36 0 0 28 0 0 53 6 11.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.256393207 0.256393207 1 NA NA 0 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.000000293 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 32822669 A T FRY CCDS41875.1 r.? - - intronic 26 0 0 23 0 0 31 0 0 34 9 26.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.601276105 0.601276105 1 NA NA 0 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 47318082 C T LRCH1 CCDS31972.1 r.? - - downstream 27 0 0 28 3 10.7 35 6 17.1 48 28 58.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.679764706 0.679764706 1 0.837849558 0.837849558 1 1.322807431 1.181753209 1.119360135 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000372895 1 2.24E-08 1 5.66E-52 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 48933781 A G RB1 CCDS31973.1 r.? - - intronic 35 0 0 25 4 16 31 3 9.7 42 22 52.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.016470588 1.016470588 1 0.475271386 0.475271386 1 1.188938411 1.188938411 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00000727 1 0.000505952 1 1.11E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 55355129 A T - - - - - - 22 0 0 31 3 9.7 29 3 10.3 38 18 47.4 0 0 NA 2 2 100 0 0 NA 1 0 0 NA TRUE FALSE 0.616235294 0.616235294 1 0.504669617 0.504669617 1 1.07549009 1.07549009 1 6.352941176 6.352941176 1 NA NA 1 NA NA 1 9 NA 1 1 0.000505952 0.000025 0.000414371 1 1.16E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 55999484 G A - - - - - - 31 0 0 35 2 5.7 36 4 11.1 69 22 31.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.362117647 0.362117647 1 0.543867257 0.543867257 1 0.723800292 0.723800292 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.013332991 1 0.0000324 1 1.12E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 60104908 C T - - - - - - 34 0 0 27 0 0 30 0 0 56 28 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 1.134483217 1.134483217 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.49E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 63830848 G C - - - - - - 32 0 0 30 2 6.7 42 6 14.3 50 18 36 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.492647059 0.492647059 1 0.843657817 0.843657817 1 1.092155564 1.092155564 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.009909649 1 7.02E-08 1 5.92E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 65738236 G A - - - - - - 24 0 0 28 3 10.7 31 3 9.7 63 20 31.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.786764706 0.786764706 1 0.572271386 0.572271386 1 0.961703649 0.961703649 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000372895 1 0.000505952 1 1.05E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 65783839 G T - - - - - - 30 0 0 36 0 0 26 0 0 67 6 9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.273038891 0.273038891 1 NA NA 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 1 1 0.0000012 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 66237988 C T - - - - - - 27 0 0 41 3 7.3 32 3 9.4 70 25 35.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.536764706 0.536764706 1 0.554572271 0.554572271 1 1.083054267 1.083054267 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.001155993 1 0.000556213 1 1.55E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 19129426 G A - - - - - - 21 0 0 15 2 13.3 16 4 25 41 15 36.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.110941176 1.110941176 1 1.724926254 1.724926254 1 1.518755906 0.759377953 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.002513772 1 0.00000108 1 1.71E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 71609635 G A - - - - - - 34 0 0 26 3 11.5 31 6 19.4 68 23 33.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.845588235 0.845588235 1 1.144542773 1.144542773 1 1.025412724 1.025412724 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000298167 1 1.03E-08 1 7.7E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 72969476 T C - - - - - - 28 0 0 37 3 8.1 25 3 12 58 21 36.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.595588235 0.595588235 1 0.707964602 0.707964602 1 1.098223095 1.098223095 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000855237 1 0.00026475 1 1.34E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 74266321 G T KLF12 CCDS9449.1 r.4542c>a c.? p.? 3'UTR variant 28 0 0 35 0 0 40 0 0 57 5 8.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.26697136 0.26697136 1 NA NA 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 1 1 0.0000105 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 75111270 C T - - - - - - 30 0 0 27 3 11.1 17 2 11.8 65 23 35.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.696165192 0.696165192 1 1.073952971 1.073952971 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000334187 1 0.003234386 1 2.21E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 77530557 G A IRG1 ENST00000377462 r.? - - intronic 27 0 0 33 3 9.1 19 1 5.3 64 24 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.669117647 0.669117647 1 0.312684366 0.312684366 1 1.137662045 1.137662045 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000609557 1 0.090843738 1 1.23E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 24118439 G T - - - - - - 42 0 0 41 12 29.3 48 12 25 81 39 48.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.447411765 1.223705882 2 1.724926254 0.862463127 2 1.99596063 0.997980315 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.69E-18 1 1.44E-17 1 3E-67 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 84739338 G A - - - - - - 15 0 0 20 2 10 16 4 25 44 22 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 1.474926254 1.474926254 1 2.07480315 1.037401575 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.004473894 1 0.00000108 1 4.51E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 93346923 C A GPC5 CCDS9468.1 r.? - - intronic 28 0 0 30 2 6.7 30 3 10 75 20 26.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.559647059 0.559647059 1 0.689970501 0.689970501 1 1.107944882 1.107944882 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009909649 1 0.000458697 1 5.89E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 94449652 C T GPC6 CCDS9469.1 r.? - - intronic 28 0 0 39 0 0 41 0 0 76 7 9.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.38176378 0.38176378 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.000000126 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 95976197 G A - - - - - - 29 0 0 29 0 0 21 0 0 77 9 11.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.485503937 0.485503937 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 2.32E-10 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 96526026 C T UGGT2 CCDS9480.1 r.? - - intronic 40 0 0 41 1 2.4 43 1 2.3 81 24 29.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.200470588 0.200470588 1 0.158693215 0.158693215 1 1.228283465 1.228283465 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.18577148 1 0.193893409 1 1.04E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 97701246 T C - - - - - - 19 0 0 32 4 12.5 33 1 3 99 30 30.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.044117647 1.044117647 1 0.20699115 0.20699115 1 1.257330709 1.257330709 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 0.15245715 1 1.37E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 102722057 C T FGF14 CCDS9500.1 r.? - - intronic 30 0 0 33 2 6.1 22 3 13.6 107 31 29 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.509529412 0.509529412 1 0.938359882 0.938359882 1 1.203385827 1.203385827 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011909843 1 0.000179267 1 2.55E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 103175302 C G - - - - - - 23 0 0 32 0 0 26 0 0 87 24 27.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 1.145291339 1.145291339 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 7.54E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 104054385 G A - - - - - - 24 0 0 37 4 10.8 27 2 7.4 61 20 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.902117647 0.902117647 1 0.510578171 0.510578171 1 1.361070866 1.361070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000362 1 0.00807567 1 4.89E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 104805506 C T - - - - - - 42 0 0 49 0 0 49 0 0 84 15 17.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.742779528 0.742779528 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 3.27E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 107827318 G A FAM155A CCDS32006.1 r.? - - intronic 24 0 0 42 2 4.8 3 0 0 63 15 23.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.400941176 0.400941176 1 0 0 1 0.987606299 0.987606299 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.018854633 1 1 1 2.97E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 108173045 G T FAM155A CCDS32006.1 r.? - - intronic 31 0 0 29 1 3.4 44 3 6.8 101 20 19.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.284 0.284 1 0.469179941 0.469179941 1 0.821622047 0.821622047 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.135292269 1 0.00142027 1 4.33E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 113779948 G C F7 CCDS9528.1 r.? - - downstream 32 0 0 31 3 9.7 31 3 9.7 111 29 26.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.810235294 0.810235294 1 0.669271386 0.669271386 1 1.083047244 1.083047244 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000505952 1 0.000505952 1 5.25E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 129694162 G A TMEM132D CCDS9266.1 r.1346c>u c.1346C>T p.A449V missense 33 0 0 23 0 0 19 0 0 60 10 16.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.515132706 0.515132706 1 NA NA 1 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 5.86E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 19073835 A G - - - - - - 69 0 0 64 2 3.1 80 2 2.5 133 25 18.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.227941176 0.227941176 1 0.147492625 0.147492625 1 0.592125984 0.592125984 1 NA NA 1 NA NA 1 NA NA 1 5 NA 1 1 0.041085601 1 0.061147026 1 1.28E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 44414578 C T - - - - - - 40 0 0 41 6 14.6 42 8 19 84 21 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.219529412 1.219529412 1 1.310943953 1.310943953 1 1.037401575 1.037401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 6.05E-08 1 3.96E-11 1 1.15E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 22019137 C T - - - - - - 30 0 0 35 3 8.6 26 3 11.5 75 28 37.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.632352941 0.632352941 1 0.678466077 0.678466077 1 1.17480315 1.17480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000725791 1 0.000298167 1 9.34E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 22916417 G A TRAC ENST00000446346 r.? - - intronic 22 0 0 18 1 5.6 23 4 17.4 51 11 21.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.411764706 0.411764706 1 1.026548673 1.026548673 1 0.680314961 0.680314961 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.086275114 1 0.00000513 1 1.94E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 29824762 G A - - - - - - 40 0 0 26 3 11.5 25 2 8 51 23 45.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.730588235 0.730588235 1 0.391976401 0.391976401 1 0.969472441 0.969472441 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000298167 1 0.006948068 1 2.05E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 31543056 G A AP4S1 CCDS9642.1 r.? - - intronic 14 0 0 18 3 16.7 10 3 30 38 23 60.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 1.469911504 1.469911504 1 1.300511811 1.300511811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000964 1 0.0000146 1 1.72E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 34408170 A G EGLN3 CCDS9646.1 r.? - - intronic 33 0 0 16 0 0 23 0 0 48 6 12.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.268700787 0.268700787 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.00000016 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 68236428 C G ZFYVE26 CCDS9788.1 r.5643g>c c.5504G>C p.C1835S missense 32 0 0 33 2 6.1 33 6 18.2 49 0 0 228 0 0 96 2 2.1 100 13 13 3.16E-11 128 0 0 TRUE TRUE 0.387529412 0.387529412 1 0.891746313 0.891746313 1 0 0 1 0.133411765 0.133411765 1 0.636961652 0.636961652 1 0 0 1 7 3 1 1 0.011909843 0.083811806 1.54E-08 5.79E-15 1 1 YES 1_0 1_1 0_0 somatic custom.pulldown.HiSeq PD9777b 14 42759275 G C - - - - - - 25 0 0 29 0 0 29 0 0 46 16 34.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.748062992 0.748062992 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.31E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 43200687 G T - - - - - - 38 1 2.6 29 3 10.3 33 7 21.2 50 23 46 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.654352941 0.654352941 1 1.038737463 1.038737463 1 0.988818898 0.988818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 0.173434892 1 0.000414371 1 2.98E-10 1 1.13E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 62962763 G T - - - - - - 27 0 0 32 0 0 29 0 0 36 14 38.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.83619685 0.83619685 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.09E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 64389394 C T SYNE2 CCDS9761.2 r.? - - intronic 38 0 0 33 0 0 33 0 0 66 8 12.1 0 0 NA 2 0 0 2 0 0 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.260102362 0.260102362 1 0 0 1 0 0 1 NA NA 1 1 NA 1 1 1 1 1 1 1.73E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 73574132 G A RBM25 CCDS32113.1 r.? - - intronic 31 0 0 25 3 12 25 3 12 39 19 48.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.762352941 0.762352941 1 0.587964602 0.587964602 1 1.046858268 1.046858268 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00026475 1 0.00026475 1 1.2E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 75095129 C A - - - - - - 26 0 0 22 0 0 19 0 0 40 6 15 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.322440945 0.322440945 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 87075267 T C - - - - - - 35 0 0 27 0 0 37 0 0 34 14 41.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.885637795 0.885637795 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 7.74E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 91942441 C T SMEK1 CCDS9895.1 r.? - - intronic 45 0 0 30 0 0 21 0 0 58 18 31 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.666377953 0.666377953 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.42E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 92219099 G A - - - - - - 31 0 0 30 0 0 35 0 0 48 25 52.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 1.119944882 1.119944882 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 8.26E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 97651061 G T - - - - - - 25 0 0 36 0 0 34 0 0 32 6 18.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.404125984 0.404125984 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 27104197 G A - - - - - - 39 0 0 28 3 10.7 18 3 16.7 49 28 57.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.679764706 0.679764706 1 0.818250737 0.818250737 1 1.227425197 1.227425197 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000372895 1 0.0000964 1 1.31E-51 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 27855112 A G - - - - - - 44 0 0 22 3 13.6 6 0 0 33 19 57.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.864 0.864 1 0 0 1 1.238173228 1.238173228 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000179267 1 1 1 1.46E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 32648257 G A - - - - - - 8 0 0 13 0 0 8 0 0 22 8 36.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.782456693 0.782456693 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 38365216 C G AC091005.1 ENST00000434223 r.? - - upstream 27 0 0 11 1 9.1 0 0 NA 28 13 46.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.578117647 0.578117647 1 NA NA 1 0.997417323 0.997417323 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 0.05364542 1 1 1 4.26E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 52049239 A C TMOD2 CCDS10144.1 r.? - - intronic 36 0 0 39 2 5.1 23 1 4.3 52 13 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.375 0.375 1 0.253687316 0.253687316 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.016387522 1 0.108890944 1 6.47E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 53337423 T C - - - - - - 33 0 0 36 0 0 33 0 0 50 12 24 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.755905512 0.755905512 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.49E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 54671345 T C UNC13C CCDS45264.1 r.? - - intronic 34 0 0 36 2 5.6 42 1 2.4 66 20 30.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.411764706 0.411764706 1 0.14159292 0.14159292 1 0.954330709 0.954330709 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.014070883 1 0.189842622 1 3.11E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 55120384 G A - - - - - - 40 0 0 25 1 4 41 3 7.3 71 20 28.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.294117647 0.294117647 1 0.430678466 0.430678466 1 0.888188976 0.888188976 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.117779757 1 0.001155993 1 1.68E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 59797438 C T FAM81A CCDS45269.1 r.? - - intronic 35 0 0 26 4 15.4 27 4 14.8 68 14 20.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.132352941 1.132352941 1 0.873156342 0.873156342 1 0.648818898 0.648818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000856 1 0.00001 1 5.84E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 63215920 C G - - - - - - 38 0 0 39 0 0 42 0 0 77 22 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.900787402 0.900787402 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.86E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 65741441 G A DPP8 CCDS10207.1 r.? - - intronic 18 0 0 20 3 15 15 3 20 30 13 43.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.102941176 1.102941176 1 1.179941003 1.179941003 1 1.363779528 1.363779528 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0001337 1 0.0000544 1 1.35E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 68505871 C T CLN6 CCDS10227.1 r.? - - intronic 26 0 0 27 2 7.4 8 0 0 59 22 37.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.544117647 0.544117647 1 0 0 1 1.17480315 1.17480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00807567 1 1 1 1.79E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 71528560 C T THSD4 CCDS10238.2 r.? - - intronic 31 0 0 30 2 6.7 21 2 9.5 72 29 40.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.492647059 0.492647059 1 0.560471976 0.560471976 1 1.269291339 1.269291339 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009909649 1 0.004928472 1 1.73E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 71677648 C T THSD4 CCDS10238.2 r.? - - intronic 28 0 0 36 0 0 45 0 0 61 16 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.82519685 0.82519685 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.5E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 72161437 C G MYO9A CCDS10239.1 r.? - - intronic 37 0 0 38 0 0 38 0 0 77 13 16.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.532283465 0.532283465 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.67E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 76536069 G A ETFA CCDS32299.1 r.? - - intronic 32 0 0 27 2 7.4 26 1 3.8 66 23 34.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.544117647 0.544117647 1 0.224188791 0.224188791 1 1.096062992 1.096062992 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.00807567 1 0.122190858 1 3.38E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 78663680 T G - - - - - - 39 0 0 36 4 11.1 37 7 18.9 61 16 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 1.115044248 1.115044248 1 0.82519685 0.82519685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000324 1 7.05E-10 1 2.5E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 80690147 G T - - - - - - 29 0 0 23 3 13 26 2 7.7 63 29 46 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.955882353 0.955882353 1 0.454277286 0.454277286 1 1.448818898 1.448818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000205387 1 0.007502227 1 1.2E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 85942031 C T AKAP13 CCDS32320.1 r.? - - intronic 36 0 0 31 2 6.5 34 2 5.9 69 24 34.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.477941176 0.477941176 1 0.348082596 0.348082596 1 1.096062992 1.096062992 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.010558179 1 0.012612579 1 1.11E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 88177717 A C - - - - - - 25 0 0 43 0 0 37 0 0 67 18 26.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.847244094 0.847244094 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.83E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 88823595 G A - - - - - - 30 0 0 35 2 5.7 41 3 7.3 74 30 40.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.419117647 0.419117647 1 0.430678466 0.430678466 1 1.275590551 1.275590551 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.013332991 1 0.001155993 1 3.53E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 88995620 G C - - - - - - 34 0 0 34 1 2.9 32 1 3.1 74 8 10.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.213235294 0.213235294 1 0.182890855 0.182890855 1 0.34015748 0.34015748 1 NA NA 1 NA NA 1 NA NA 1 4 NA 1 1 0.156694864 1 0.14819814 1 4.39E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 90918321 C G - - - - - - 31 0 0 32 0 0 29 0 0 68 7 10.3 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 TRUE FALSE 0 0 1 0 0 1 0.324409449 0.324409449 1 NA NA 1 NA NA 1 0 0 1 1 NA 1 1 1 1 1 1 0.000000058 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 94979485 C T MCTP2 CCDS32338.1 r.? - - intronic 28 0 0 30 2 6.7 37 5 13.5 69 22 31.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.492647059 0.492647059 1 0.796460177 0.796460177 1 1.004724409 1.004724409 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009909649 1 0.00000119 1 1.12E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 97148432 T C - - - - - - 22 0 0 31 3 9.7 30 2 6.7 63 22 34.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.713235294 0.713235294 1 0.395280236 0.395280236 1 1.099212598 1.099212598 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000505952 1 0.009909649 1 1.03E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 97956510 G A - - - - - - 32 0 0 26 2 7.7 46 5 10.9 53 9 17 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.566176471 0.566176471 1 0.643067847 0.643067847 1 0.535433071 0.535433071 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.007502227 1 0.00000361 1 7.1E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 100951378 T A LASS3 CCDS10384.1 r.? - - intronic 41 0 0 40 0 0 24 0 0 97 7 7.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.226771654 0.226771654 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.000000677 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 1607924 C T IFT140 CCDS10439.1 r.? - - intronic 41 0 0 38 1 2.6 23 0 0 86 25 29.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.191176471 0.191176471 1 0 0 1 1.133610721 1.133610721 1 NA NA 0 NA NA 1 NA NA 1 6 NA 1 1 0.173434892 1 1 1 6.84E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 3220417 A T - - - - - - 31 0 0 26 0 0 11 0 0 61 14 23 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.895980983 0.895980983 1 NA NA 0 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.1E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 13743011 T G - - - - - - 20 0 0 9 1 11.1 26 2 7.7 72 24 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.454277286 0.454277286 1 1.29722464 1.29722464 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.044110422 1 0.007502227 1 3.76E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 14156514 A T - - - - - - 30 0 0 28 2 7.1 8 0 0 82 36 43.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.522058824 0.522058824 1 0 0 1 1.710155006 0.979490871 1.74596319 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.008668191 1 1 1 2.7E-60 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 14280653 G C MKL2 CCDS32391.1 r.? - - intronic 23 0 0 32 0 0 34 0 0 89 7 7.9 0 0 NA 0 0 NA 0 0 NA 1 1 0 0 TRUE FALSE 0 0 1 0 0 1 0.30774999 0.30774999 1 NA NA 0 NA NA 1 0 0 1 1 NA 1 1 1 1 1 1 0.000000376 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 18182486 C T - - - - - - 29 0 0 23 2 8.7 24 4 16.7 58 24 41.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.639705882 0.639705882 1 0.985250737 0.985250737 1 1.612765769 0.923711209 1.74596319 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00589844 1 0.00000613 1 6.49E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 21272784 A G CRYM CCDS10597.1 r.? - - intronic 31 0 0 31 3 9.7 27 3 11.1 65 8 12.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.713235294 0.713235294 1 0.654867257 0.654867257 1 0.479155047 0.642330685 0.74596319 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.000505952 1 0.000334187 1 1.53E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 21776247 G C OTOA CCDS10600.2 r.? - - downstream 35 0 0 20 0 0 28 0 0 68 13 19.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.744053773 0.744053773 1 NA NA 0 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 2.96E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 22033505 T C - - - - - - 46 0 0 32 0 0 32 0 0 75 7 9.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.362287963 0.362287963 1 NA NA 0 NA NA 1 NA NA 0 1 NA 1 1 1 1 1 1 0.000000115 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 23218591 T G SCNN1G CCDS10608.1 r.? - - intronic 23 0 0 43 0 0 26 0 0 94 16 17 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.662246813 0.887774118 0.74596319 NA NA 0 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 4.85E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 24482599 G C - - - - - - 29 0 0 45 0 0 46 0 0 81 24 29.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.932283465 0.932283465 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.04E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 24577849 G A RBBP6 CCDS10621.1 r.? - - intronic 36 0 0 27 3 11.1 31 2 6.5 68 28 41.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.383480826 0.383480826 1 1.297637795 1.297637795 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000334187 1 0.010558179 1 3.06E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 28918888 G C ATP2A1 CCDS42139.1 r.? - - downstream 24 0 0 30 2 6.7 21 2 9.5 69 26 37.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.492647059 0.492647059 1 0.560471976 0.560471976 1 1.187401575 1.187401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009909649 1 0.004928472 1 8.5E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 31059670 T A - - - - - - 19 0 0 43 3 7 4 1 25 51 13 25.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.514705882 0.514705882 1 1.474926254 1.474926254 1 0.803149606 0.803149606 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001328364 1 0.019850499 1 4.87E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 31847375 C A - - - - - - 28 0 0 30 2 6.7 15 1 6.7 59 19 32.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.492647059 0.492647059 1 0.395280236 0.395280236 1 1.014173228 1.014173228 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009909649 1 0.072431031 1 2.2E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 60701699 G A TMEM132A CCDS7997.1 r.? - - intronic 22 0 0 15 2 13.3 4 0 0 43 19 44.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.844941176 0.844941176 1 0 0 1 0.950125984 0.950125984 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.002513772 1 1 1 1.36E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 32355195 T C - - - - - - 94 0 0 108 2 1.9 116 6 5.2 162 20 12.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE NA NA 1 0.306784661 0.306784661 1 0.387401575 0.387401575 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 0.102203269 1 0.000029 1 9.08E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 32465872 G T - - - - - - 78 0 0 68 1 1.5 52 3 5.8 128 21 16.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.116890639 0.116890639 1 0.342182891 0.342182891 1 0.516535433 0.516535433 1 NA NA 0 NA NA 1 NA NA 0 5 NA 1 1 0.288836448 1 0.002300591 1 1.76E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 87607355 A G - - - - - - 34 0 0 35 6 17.1 47 11 23.4 55 16 29.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.257352941 1.257352941 1 1.380530973 1.380530973 1 0.916535433 0.916535433 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.24E-08 1 7.21E-16 1 3.78E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 33468311 C T - - - - - - 53 0 0 55 3 5.5 8 2 25 96 23 24 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.428599009 0.428599009 1 1.474926254 1.474926254 1 0.755905512 0.755905512 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.002700822 1 0.000686131 1 7.21E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 33502398 T C ENSG00000214611 ENST00000398662 r.? - - upstream 56 0 0 60 3 5 26 2 7.7 119 14 11.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.389635463 0.389635463 1 0.454277286 0.454277286 1 0.371653543 0.371653543 1 NA NA 1 NA NA 1 NA NA 1 4 NA 1 1 0.003458198 1 0.007502227 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 34643619 C A ENSG00000237113 ENST00000425453 r.? - - intronic 35 0 0 24 2 8.3 31 3 9.7 61 15 24.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.646794868 0.646794868 1 0.572271386 0.572271386 1 0.77480315 0.77480315 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.006413403 1 0.000505952 1 1.73E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 46485157 T C - - - - - - 7 0 0 11 3 27.3 5 0 0 23 5 21.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.127409627 2.127409627 1 0 0 1 0.683464567 0.683464567 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.00002 1 1 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 46485166 A G - - - - - - 9 0 0 13 3 23.1 5 0 0 22 5 22.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.800115838 1.800115838 1 0 0 1 0.71496063 0.71496063 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000344 1 1 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 47650840 C A PHKB CCDS42161.1 r.? - - intronic 26 0 0 22 0 0 25 0 0 58 15 25.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.815748031 0.815748031 1 NA NA 1 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 7.42E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 48929748 C T - - - - - - 36 0 0 35 4 11.4 24 1 4.2 56 15 26.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.888368855 0.888368855 1 0.247787611 0.247787611 1 0.844094488 0.844094488 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000289 1 0.113346489 1 4.09E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 50086586 G T AC007610.2 ENST00000502353 r.? - - intronic 28 0 0 35 0 0 35 0 0 71 6 8.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.267716535 0.267716535 1 NA NA 1 NA NA 0 NA NA 0 NA NA 1 1 1 1 1 1 0.00000169 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 51236193 C T - - - - - - 23 0 0 33 4 12.1 36 2 5.6 75 26 34.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.94291782 0.94291782 1 0.306198991 0.538955474 0.568134115 1.092913386 1.092913386 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.0000228 1 0.014070883 1 1.19E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 51589451 T C - - - - - - 37 0 0 31 2 6.5 38 4 10.5 56 17 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.506526102 0.506526102 1 0.574123109 0.574123109 1 0.957480315 0.957480315 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.010558179 1 0.0000403 1 6.22E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 54444574 G A ENSG00000227093 ENST00000449142 r.? - - intronic 29 0 0 29 0 0 18 1 5.6 52 17 32.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0.306198991 NA 0 1.02992126 1.02992126 1 NA NA 1 NA NA 0 NA NA 0 NA NA 1 1 1 1 0.086275114 1 1.42E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 54714352 C G - - - - - - 24 0 0 33 1 3 36 1 2.8 72 21 29.2 0 0 NA 0 0 NA 1 0 0 1 0 0 NA FALSE FALSE 0.233781278 0.233781278 1 0.153099496 NA 0 0.919685039 0.919685039 1 NA NA 1 0 NA 0 NA NA 0 NA NA 1 1 0.15245715 1 0.165106833 1 2.89E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 60672860 C G - - - - - - 35 0 0 27 2 7.4 34 1 2.9 60 27 45 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.576660485 0.576660485 1 0.158567335 NA 0 1.417322835 1.417322835 1 NA NA 1 NA NA 0 NA NA 0 NA NA 1 1 0.00807567 1 0.156694864 1 5.59E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 60864666 G A - - - - - - 27 0 0 29 2 6.9 29 6 20.7 44 18 40.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.537696939 0.537696939 1 1.1318427 1.1318427 1 1.288188976 1.288188976 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.009279585 1 6.72E-09 1 3.47E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 61144839 A T - - - - - - 46 0 0 33 3 9.1 37 3 8.1 47 17 36.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.709136542 0.709136542 1 0.442894969 0.442894969 1 1.14015748 1.14015748 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000609557 1 0.000855237 1 1.81E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 61502240 G T - - - - - - 33 0 0 39 0 0 30 3 10 81 18 22.2 13 0 0 182 11 6 205 20 9.8 4.63E-14 217 54 24.9 FALSE TRUE 0 NA 0 0.546783913 0.546783913 1 0.898399004 0.898399004 1 0.467562555 1.06320258 0.439768078 0.535848235 0.94317208 0.568134115 1.007663748 1.007663748 1 NA 12 1 1 1 2.98E-09 0.000458697 1.07E-19 1.29E-24 1.17E-73 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 61844421 G T CDH8 CCDS10802.1 r.? - - intronic 30 0 0 35 0 0 29 0 0 72 16 22.2 0 0 NA 0 0 NA 2 0 0 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.898399004 0.898399004 1 NA NA 1 0 NA 0 NA NA 0 NA NA 1 1 1 1 1 1 4.82E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 62166234 C A - - - - - - 31 0 0 37 1 2.7 15 0 0 83 23 27.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.21040315 0.21040315 1 0 NA 0 1.120975334 1.120975334 1 NA NA 1 NA NA 0 NA NA 0 NA NA 1 1 0.169281299 1 1 1 1.64E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 62879567 G A - - - - - - 25 0 0 23 5 21.7 12 3 25 58 12 20.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.691017908 1.691017908 1 1.366959782 1.366959782 1 0.837696368 0.837696368 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 9.75E-08 1 0.0000266 1 1.76E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 63203188 G C - - - - - - 31 0 0 39 0 0 35 0 0 82 15 18.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.740572152 0.740572152 1 NA NA 1 NA NA 0 NA NA 0 NA NA 1 1 1 1 1 1 2.22E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 63265852 T C - - - - - - 24 0 0 29 3 10.3 38 2 5.3 65 11 16.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.802649053 0.802649053 1 0.289795474 0.510082859 0.568134115 0.683916359 0.683916359 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.000414371 1 0.015598339 1 3.41E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 64299213 T A ENSG00000233525 ENST00000428919 r.? - - upstream 32 0 0 39 0 0 45 0 0 72 17 23.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.955054797 0.955054797 1 NA NA 1 NA NA 0 NA NA 0 NA NA 1 1 1 1 1 1 7.97E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 64702253 G C - - - - - - 27 0 0 33 1 3 50 4 8 74 20 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.233781278 0.233781278 1 0.43742713 0.769936392 0.568134115 1.092647437 1.092647437 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.15245715 1 0.000119787 1 4.34E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 65723006 T C - - - - - - 42 0 0 37 0 0 55 0 0 96 17 17.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.716291098 0.716291098 1 NA NA 1 NA NA 0 NA NA 0 NA NA 1 1 1 1 1 1 1.64E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 71184444 A G HYDIN2 CCDS42189.1 r.? - - intronic 54 0 0 76 2 2.6 85 4 4.7 175 22 12.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.202610441 0.460721118 0.439768078 0.256988439 0.45233763 0.568134115 0.509902137 0.509902137 1 NA NA 1 NA NA 0 NA NA 0 5 NA 1 1 0.055865747 1 0.000916711 1 5.71E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 72567369 C T - - - - - - 24 0 0 17 0 0 21 2 9.5 66 16 24.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.519444717 0.519444717 1 0.979335851 0.979335851 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 1 1 0.004928472 1 1.03E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 73000489 C T ZFHX3 CCDS10908.1 r.? - - intronic 36 0 0 31 0 0 31 0 0 87 16 18.4 2 0 0 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.744618994 0.744618994 1 NA NA 1 NA NA 0 NA NA 0 NA NA 1 1 1 1 1 1 1.29E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 73580653 T G - - - - - - 26 0 0 14 0 0 19 0 0 54 4 7.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.299466335 0.299466335 1 NA NA 1 NA NA 0 NA NA 0 NA NA 1 1 1 1 1 1 0.000161898 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 76061011 C A - - - - - - 31 0 0 35 2 5.7 18 2 11.1 89 26 29.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.444184428 0.444184428 1 0.606930143 0.606930143 1 1.181677969 1.181677969 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.013332991 1 0.003626632 1 2.27E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 77942123 G C VAT1L CCDS32492.1 r.? - - intronic 22 0 0 29 1 3.4 14 1 7.1 48 9 18.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.264952115 0.264952115 1 0.388216578 NA 0 0.760806364 0.760806364 1 NA NA 1 NA NA 0 NA NA 0 NA NA 1 1 0.135292269 1 0.067769881 1 2.75E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 79182398 C T WWOX CCDS42196.1 r.? - - intronic 38 0 0 27 2 7.4 43 4 9.3 87 18 20.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.576660485 0.576660485 1 0.508509039 0.508509039 1 0.837696368 0.837696368 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.00807567 1 0.000066 1 5.29E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 79182399 T C WWOX CCDS42196.1 r.? - - intronic 39 0 0 27 2 7.4 42 4 9.5 87 18 20.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.576660485 0.576660485 1 0.519444717 0.519444717 1 0.837696368 0.837696368 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.00807567 1 0.0000601 1 5.29E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 81527671 C T - - - - - - 37 0 0 23 3 13 4 0 0 70 22 31.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.013052203 1.013052203 1 0 NA 0 1.270708501 1.270708501 1 NA NA 1 NA NA 0 NA NA 0 NA NA 1 1 0.000205387 1 1 1 1.63E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 83007159 G A CDH13 ENST00000268613 r.? - - intronic 29 0 0 35 4 11.4 35 1 2.9 78 10 12.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.888368855 0.888368855 1 0.158567335 NA 0 0.517995822 0.5773239 0.89723606 NA NA 1 NA NA 0 NA NA 0 NA NA 1 1 0.0000289 1 0.16091139 1 9.02E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 84064362 C T SLC38A8 CCDS32495.1 r.? - - intronic 33 0 0 28 0 0 27 0 0 99 21 21.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.85793058 0.85793058 1 NA NA 1 NA NA 0 NA NA 0 NA NA 1 1 1 1 1 1 5.3E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 17162596 A G CNTLN CCDS43789.1 r.? - - intronic 33 0 0 59 0 0 42 0 0 152 14 9.2 110 0 0 331 0 0 359 0 0 1 454 30 6.6 TRUE TRUE 0 0 1 0 0 1 0.74976378 0.74976378 1 0 0 1 0 0 1 0.537874016 0.537874016 1 2 2 1 1 1 1 1 1 6.97E-14 8.7E-24 YES 0_0 0_0 1_1 somatic custom.pulldown.HiSeq PD9777b 16 87405377 G C FBXO31 CCDS32501.1 r.? - - intronic 22 0 0 31 2 6.5 37 1 2.7 75 12 16 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.506526102 0.506526102 1 0.147631656 NA 0 0.647494778 0.647494778 1 NA NA 1 NA NA 0 NA NA 0 NA NA 1 1 0.010558179 1 0.169281299 1 4.77E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 88361701 A C - - - - - - 18 0 0 20 1 5 2 0 0 49 9 18.4 74 0 0 5 3 60 10 0 0 1 10 0 0 FALSE FALSE 0.389635463 0.389635463 1 0 NA 0 0.744618994 0.744618994 1 4.675625553 3.247485219 1.439768078 0 NA 0 0 NA 0 NA NA 1 1 0.09538952 0.00000124 1 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 89030777 A C CBFA2T3 CCDS10972.1 r.? - - intronic 31 0 0 36 0 0 32 0 0 88 7 8 0 0 NA 0 0 NA 2 0 0 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.230424511 0.230424511 1 NA NA 1 0 NA 0 NA NA 0 NA NA 1 1 1 1 1 1 0.000000348 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 89616691 T G SPG7 CCDS10977.1 r.? - - intronic 27 0 0 35 2 5.7 2 0 0 44 12 27.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.444184428 0.444184428 1 0 NA 0 0.786323643 0.786323643 1 NA NA 1 NA NA 0 NA NA 0 NA NA 1 1 0.013332991 1 1 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 120363107 G C ARHGEF12 CCDS41727.1 r.? - - downstream 34 0 0 27 4 14.8 22 11 50 79 49 62 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.057777878 1.057777878 1 2.949852507 1.474926254 2 1.952755906 0.976377953 2 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00001 1 3.27E-20 1 8.5E-92 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 4524785 G C AC118754.2 ENST00000512682 r.? - - downstream 32 0 0 37 0 0 22 0 0 36 5 13.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.298795276 0.298795276 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 0.00000104 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 9814684 C T GAS7 CCDS11152.1 r.7453g>a c.? p.? 3'UTR variant 29 0 0 22 1 4.5 8 1 12.5 39 17 43.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.285882353 0.285882353 1 0.640896067 0.640896067 1 0.937228346 0.937228346 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.104413009 1 0.039306956 1 3.51E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 11227258 C T SHISA6 CCDS45615.1 r.? - - intronic 39 0 0 23 0 0 23 0 0 43 5 11.6 114 0 0 129 0 0 141 0 0 1 112 7 6.2 FALSE FALSE 0 0 1 0 NA 0 0.249354331 0.249354331 1 0 0 1 0 NA 0 0.133275591 0.133275591 1 NA NA 1 1 1 1 1 1 0.00000257 0.00000179 YES 0_0 0_0 1_1 somatic custom.pulldown.HiSeq PD9777b 17 15464849 G T FAM18B2 CCDS45617.1 r.? - - intronic 23 0 0 25 0 0 16 0 0 34 4 11.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.253653543 0.253653543 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 0.0000257 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 15820987 C T - - - - - - 20 0 0 4 0 0 1 0 0 45 24 53.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 1.145740157 1.145740157 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 2.03E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 19173983 G A EPN2 CCDS11203.1 r.? - - intronic 42 0 0 40 3 7.5 20 2 10 53 25 47.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.476470588 0.476470588 1 0.512716854 0.512716854 1 1.014614173 1.014614173 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.001075403 1 0.004473894 1 2.35E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 29122918 T C CRLF3 CCDS32607.1 r.? - - intronic 31 0 0 24 2 8.3 13 0 0 45 9 20 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.593527657 0.593527657 1 0 NA 0 0.62992126 0.62992126 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.006413403 1 1 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 31893998 C G ACCN1 CCDS42296.1 r.? - - intronic 29 0 0 35 0 0 33 0 0 68 17 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.787401575 0.787401575 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 2.69E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 38301510 C T CASC3 CCDS11362.1 r.? - - intronic 32 0 0 32 3 9.4 7 1 14.3 56 18 32.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.672187949 0.672187949 1 0.557657817 0.557657817 1 1.011023622 1.011023622 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000556213 1 0.034479353 1 6.76E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 41738912 G A MEOX1 CCDS11466.1 r.20c>u c.? p.? 5'UTR variant 28 0 0 23 1 4.3 12 2 16.7 46 12 26.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.307490232 0.307490232 1 0.651250737 0.651250737 1 0.822047244 0.822047244 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.108890944 1 0.001595918 1 8.12E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 42459007 A T ITGA2B CCDS32665.1 r.? - - intronic 21 0 0 34 3 8.8 21 3 14.3 68 18 26.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.629282335 0.629282335 1 0.557657817 0.557657817 1 0.834645669 0.834645669 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000666058 1 0.000155401 1 3.83E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 48348214 C T TMEM92 CCDS11562.1 r.? - - upstream 33 0 0 29 0 0 8 0 0 68 17 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.787401575 0.787401575 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 2.69E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 12678251 C A CEP76 CCDS11861.1 r.1706g>u c.1480G>T p.E494* nonsense 36 0 0 32 4 12.5 25 1 4 46 31 67.4 253 0 0 177 17 9.6 185 12 6.5 4.72E-07 126 88 69.8 TRUE TRUE 0.794117647 0.794117647 1 0.195988201 0.195988201 1 1.448834646 1.448834646 1 0.609882353 0.609882353 1 0.318480826 0.318480826 1 1.500425197 1.500425197 1 9 9 1 1 0.0000201 7.48E-17 0.117779757 2.56E-10 2.22E-60 6.54E-171 YES 1_1 0_1 1_1 somatic custom.pulldown.HiSeq PD9777b 17 52973171 A G TOM1L1 CCDS11582.1 r.? - - upstream 28 0 0 37 0 0 40 0 0 79 12 15.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.616383738 0.68067343 0.905549873 NA NA 1 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 9.17E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 53642316 T C - - - - - - 30 0 0 32 0 0 50 5 10 100 21 21 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.689970501 0.689970501 1 0.851582796 0.851582796 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1 1 0.00000549 1 6.67E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 131843659 C T OPCML CCDS8491.1 r.? - - intronic 45 0 0 40 5 12.5 14 2 14.3 65 17 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.893393478 0.893393478 1 0.843657817 0.843657817 1 0.82519685 0.82519685 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.00000178 1 0.002185852 1 1.14E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 66471336 A T - - - - - - 31 0 0 31 0 0 38 0 0 53 14 26.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.831496063 0.831496063 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 1.22E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 68248784 C T - - - - - - 31 0 0 39 0 0 35 0 0 65 20 30.8 13 0 0 157 0 0 226 1 0.4 0.89682987 230 49 21.3 FALSE FALSE 0 0 1 0 NA 0 0.97007874 0.97007874 1 0 0 1 0.024144159 NA 0 0.670866142 0.670866142 1 NA NA 1 1 1 1 1 0.677881069 2.18E-30 2.56E-63 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 70335306 G T - - - - - - 36 0 0 44 0 0 27 0 0 72 7 9.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.305511811 0.305511811 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 8.66E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 72363635 G A KIF19 CCDS11698.1 r.? - - upstream 42 0 0 30 0 0 24 0 0 66 15 22.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.71496063 0.71496063 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 6.45E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 73538438 G A LLGL2 CCDS32733.1 r.? - - intronic 27 0 0 29 2 6.9 4 1 25 62 19 30.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.507352941 0.507352941 1 1.509009956 1.509009956 1 0.963779528 0.963779528 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.009279585 1 0.019850499 1 6.66E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 79558124 C T NPLOC4 CCDS45812.1 r.? - - intronic 29 0 0 35 2 5.7 14 3 21.4 70 23 32.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.419117647 0.419117647 1 1.291712523 1.291712523 1 1.036220472 1.036220472 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.013332991 1 0.0000437 1 1.7E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 80939243 G A B3GNTL1 CCDS32778.1 r.? - - intronic 26 0 0 29 3 10.3 12 2 16.7 53 16 30.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 0.000414371 1 0.001595918 1 1.9E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 5436686 C T EPB41L3 CCDS11838.1 r.? - - intronic 21 0 0 25 0 0 15 4 26.7 28 17 60.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.308221239 1.308221239 1 1.304811024 1.304811024 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 0.000000816 1 1.56E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 11 81464472 G A - - - - - - 43 0 0 28 1 3.6 38 0 0 77 13 16.9 121 0 0 298 23 7.7 331 8 2.4 0.019509388 384 54 14.1 FALSE FALSE 0.264705882 0.264705882 1 0 NA 0 NA NA 1 0.566176471 0.566176471 1 0.11759292 0.11759292 1 NA NA 1 NA NA 1 1 0.130947004 4.16E-20 1 0.000308378 1.67E-16 3.39E-59 YES 0_1 0_1 1_1 somatic custom.pulldown.HiSeq PD9777b 18 15191914 G A - - - - - - 35 0 0 32 0 0 36 3 8.3 57 22 38.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.406675516 0.406675516 1 0.829748031 0.829748031 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 1 1 0.000788827 1 7.03E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 23334933 G A - - - - - - 32 0 0 29 0 0 36 0 0 49 23 46.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 1.008165354 1.008165354 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 6.14E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 24040872 C T KCTD1 CCDS45844.1 r.? - - intronic 32 0 0 33 0 0 24 0 0 50 14 28 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.601889764 0.601889764 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 4.84E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 30231000 T G - - - - - - 18 1 5.6 18 2 11.1 25 4 16 44 17 38.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.705176471 0.705176471 1 0.783952802 0.783952802 1 0.829748031 0.829748031 1 NA NA 1 NA NA 1 NA NA 1 9 NA 0.086275114 1 0.003626632 1 0.00000727 1 4.61E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 32381464 A T DTNA CCDS45848.1 r.? - - intronic 39 0 0 26 1 3.8 23 2 8.7 44 21 47.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.241411765 0.241411765 1 0.426274336 0.426274336 1 1.025362205 1.025362205 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.122190858 1 0.00589844 1 8.6E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 42145157 T C - - - - - - 40 0 0 30 0 0 40 0 0 45 15 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.715818898 0.715818898 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 9.14E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 48624288 G T - - - - - - 28 0 0 25 2 8 15 2 13.3 52 24 46.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.508235294 0.508235294 1 0.651660767 0.651660767 1 0.99311811 0.99311811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006948068 1 0.002513772 1 2.22E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 49740425 C T - - - - - - 31 0 0 23 3 13 41 2 4.9 50 28 56 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.825882353 0.825882353 1 0.240085546 0.240085546 1 1.203779528 1.203779528 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.000205387 1 0.018015855 1 2.97E-51 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 52604441 C T CCDC68 CCDS11959.1 r.? - - intronic 33 0 0 33 0 0 31 0 0 48 19 39.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.851244094 0.851244094 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.92E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 56887844 C T GRP CCDS11971.1 r.? - - intronic 29 1 3.4 24 5 20.8 3 1 33.3 31 12 38.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.321411765 1.321411765 1 1.63160177 1.63160177 1 0.831897638 0.831897638 1 NA NA 1 NA NA 1 NA NA 1 9 NA 0.135292269 1 0.000000123 1 0.014925125 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 59625327 G T - - - - - - 26 0 0 32 2 6.2 13 2 15.4 38 22 57.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.393882353 0.393882353 1 0.754554572 0.754554572 1 1.244622047 1.244622047 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011224977 1 0.001879825 1 4.91E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 63126556 G A - - - - - - 38 0 0 38 4 10.5 32 2 6.2 41 22 53.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.667058824 0.667058824 1 0.303781711 0.303781711 1 1.154338583 1.154338583 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.0000403 1 0.011224977 1 5.33E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 2068900 C T DCP1B CCDS31727.1 r.? - - intronic 26 0 0 36 5 13.9 24 5 20.8 118 34 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.439058824 1.439058824 1 1.499093193 1.499093193 1 1.771086614 0.885543307 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00000104 1 0.000000123 1 1.85E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 2478527 C G GADD45B CCDS32868.1 r.? - - downstream 28 0 0 22 1 4.5 8 1 12.5 26 16 61.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.375882353 0.375882353 1 0.612463127 0.612463127 1 1.322007874 1.322007874 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.104413009 1 0.039306956 1 7.73E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 4883597 G A - - - - - - 29 0 0 33 4 12.1 12 2 16.7 42 24 57.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.010705882 1.010705882 1 0.818250737 0.818250737 1 1.227425197 1.227425197 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.0000228 1 0.001595918 1 1.93E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 8921933 T C ZNF558 CCDS12208.1 r.1463a>g c.? p.? 3'UTR variant 28 0 0 37 3 8.1 42 4 9.5 100 28 28 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.676588235 0.676588235 1 0.465471976 0.465471976 1 1.20030522 1.20030522 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.000855237 1 0.0000601 1 1.31E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 11502911 T A RGL3 CCDS32910.1 r.? - - downstream 15 0 0 34 2 5.9 32 1 3.1 83 23 27.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.492823529 0.492823529 1 0.151890855 NA 0 1.187444807 1.187444807 1 NA NA 1 NA NA 0 NA NA 0 NA NA 1 1 0.012612579 1 0.14819814 1 1.64E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 12310884 G A - - - - - - 29 0 0 43 0 0 47 0 0 94 27 28.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 1.230312851 1.230312851 1 NA NA 1 NA NA 0 NA NA 0 NA NA 1 1 1 1 1 1 1.48E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 12608543 G A ZNF709 CCDS45990.1 r.? - - intronic 28 0 0 41 0 0 37 0 0 95 20 21.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.90451572 0.90451572 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 1.14E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 15039283 T G - - - - - - 32 0 0 38 0 0 39 0 0 87 8 9.2 2 0 0 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.394386001 0.394386001 1 NA NA 1 NA NA 0 NA NA 0 NA NA 1 1 1 1 1 1 1.61E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 16549573 C A EPS15L1 CCDS32944.1 r.? - - intronic 28 0 0 32 0 0 31 0 0 112 7 6.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.26578187 0.26578187 1 NA NA 1 NA NA 0 NA NA 0 NA NA 1 1 1 1 1 1 0.00000179 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 16927041 T G NWD1 CCDS32945.1 r.6666u>g c.? p.? 3'UTR variant 33 0 0 32 0 0 49 0 0 83 6 7.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.308649914 0.308649914 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 0.00000424 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 17357064 T G USHBP1 CCDS12353.1 r.? - - downstream 19 0 0 18 4 22.2 0 0 NA 51 33 64.7 51 0 0 2 0 0 3 2 66.7 0.000298 2 0 0 FALSE FALSE 1.854352941 1.854352941 1 NA NA 0 2.77356242 1.297756381 2.13719806 0 0 1 3.268103245 3.268103245 1 0 NA 0 NA NA 1 1 0.00000181 1 1 0.0000748 2.98E-63 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 18836839 G A CRTC1 CCDS42525.1 r.? - - intronic 22 0 0 29 2 6.9 5 1 20 79 24 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.576352941 0.576352941 1 0.979941003 0.979941003 1 1.303188525 1.303188525 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 0.009279585 1 0.024751247 1 5.2E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 19539398 C T GATAD2A CCDS12402.2 r.? - - intronic 35 0 0 40 5 12.5 9 0 0 92 30 32.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.044117647 1.044117647 1 0 NA 0 1.397498221 1.228896065 1.13719806 NA NA 1 NA NA 0 NA NA 0 NA NA 1 1 0.00000178 1 1 1 1.03E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 21691415 G A ZNF429 CCDS42537.1 r.? - - intronic 35 0 0 37 0 0 53 4 7.5 107 27 25.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.367477876 0.367477876 1 1.080274698 1.080274698 1 NA NA 1 NA NA 0 NA NA 0 6 NA 1 1 1 1 0.000150502 1 7.97E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 22180329 C G ZNF208 ENST00000397126 r.? - - intronic 34 0 0 29 2 6.9 44 3 6.8 96 19 19.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.576352941 0.576352941 1 0.333179941 0.333179941 1 0.848787263 0.848787263 1 NA NA 1 NA NA 0 NA NA 0 6 NA 1 1 0.009279585 1 0.00142027 1 7.42E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 22984374 C T - - - - - - 36 0 0 31 7 22.6 44 10 22.7 91 42 46.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.887764706 1.887764706 1 1.112233038 1.112233038 1 1.980503614 0.990251807 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 1.85E-10 1 2.08E-14 1 2.83E-71 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 23121905 T C - - - - - - 26 0 0 40 0 0 36 0 0 104 16 15.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.660167871 0.660167871 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 2.67E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 23386554 C T - - - - - - 30 0 0 34 0 0 19 2 10.5 64 14 21.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.514469027 0.514469027 1 0.938810155 0.938810155 1 NA NA 1 NA NA 0 NA NA 1 6 NA 1 1 1 1 0.004039874 1 2.31E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 23750182 G C - - - - - - 30 0 0 27 2 7.4 41 4 9.8 98 22 22.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.618117647 0.618117647 1 0.480171091 0.480171091 1 0.960244176 0.960244176 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00807567 1 0.0000546 1 7.37E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 28868625 C T - - - - - - 33 0 0 26 3 11.5 23 3 13 48 14 29.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.845588235 0.845588235 1 0.766961652 0.766961652 1 0.919685039 0.919685039 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000298167 1 0.000205387 1 2.51E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 30824213 C A - - - - - - 44 0 0 38 2 5.3 23 2 8.7 60 17 28.3 0 0 NA 0 0 NA 0 0 NA 1 2 2 100 TRUE FALSE 0.389705882 0.389705882 1 0.513274336 0.513274336 1 0.891338583 0.891338583 1 NA NA 1 NA NA 1 3.149606299 3.149606299 1 9 NA 1 1 0.015598339 1 0.00589844 1 2.41E-25 0.000025 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 31167794 A T - - - - - - 39 0 0 23 0 0 32 0 0 59 6 10.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.321259843 0.321259843 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.000000561 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 32036438 G A ENSG00000232700 ENST00000441786 r.? - - intronic 38 0 0 42 0 0 28 0 0 60 13 21.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.683464567 0.683464567 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 5.07E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 37256560 C G ENSG00000196761 ENST00000332454 r.? - - intronic 26 0 0 38 2 5.3 19 1 5.3 63 16 25.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.442705882 0.442705882 1 0.237642697 NA 0 0.87096904 0.87096904 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.015598339 1 0.090843738 1 4.48E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 37551013 G A - - - - - - 38 0 0 28 3 10.7 9 2 22.2 58 13 22.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.893764706 0.893764706 1 0.995409033 0.995409033 1 0.768098681 0.768098681 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000372895 1 0.000879235 1 3.12E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 38893393 G A FAM98C CCDS42562.1 r.? - - upstream 33 0 0 19 1 5.3 10 3 30 47 15 31.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.442705882 0.442705882 1 1.345147342 1.345147342 1 1.093854818 1.093854818 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.090843738 1 0.0000146 1 1.97E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 45158277 G C PVR CCDS46106.1 r.? - - intronic 37 0 0 39 0 0 34 0 0 56 6 10.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.252321291 1.209961641 0.208536603 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 0.000000409 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 17502597 G T CNTLN CCDS43789.1 r.4252g>u c.4168G>T p.E1390* nonsense 42 0 0 65 6 9.2 66 9 13.6 157 22 14 2 0 0 371 32 8.6 435 41 9.4 1.35E-26 543 55 10.1 TRUE TRUE 1.228470588 1.228470588 1 1.50574154 1.50574154 1 1.140944882 1.140944882 1 1.148352941 1.148352941 1 1.040733124 1.040733124 1 0.823110236 0.823110236 1 9 12 1 1 0.000001 7.15E-29 5.59E-11 4.26E-38 4.84E-25 3.03E-52 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 48450817 A T - - - - - - 27 0 0 25 2 8 36 2 5.6 42 8 19 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.588235294 0.588235294 1 0.325442366 0.325442366 1 0.448047151 0.448047151 1 NA NA 1 NA NA 0 NA NA 1 5 NA 1 1 0.006948068 1 0.014070883 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 6541449 C T - - - - - - 42 0 0 48 7 14.6 54 11 20.4 131 26 19.8 0 0 NA 2 0 0 1 0 0 1 0 0 NA TRUE FALSE 1.511529412 1.511529412 1 1.470264477 1.470264477 1 1.217622047 1.217622047 1 0 0 1 0 NA 0 NA NA 1 9 NA 1 1 4.81E-09 1 3.84E-15 1 1.74E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 56504124 G A NLRP8 CCDS12937.1 r.? - - downstream 29 0 0 34 0 0 31 0 0 48 13 27.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.639056727 0.639056727 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 2E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 58285434 A C ZNF586 CCDS42640.1 r.? - - intronic 28 0 0 32 0 0 18 0 0 41 15 36.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.863080302 0.863080302 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 1.71E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 283818 C T IQSEC3 CCDS31725.1 r.? - - downstream 21 0 0 16 3 18.8 6 2 33.3 92 21 22.8 104 0 0 25 0 0 25 2 8 0.025759105 59 10 16.9 TRUE TRUE 1.946352941 1.946352941 1 2.399990544 2.399990544 1 1.402110236 1.402110236 1 0 0 1 0.576574305 0.576574305 1 1.039283465 1.039283465 1 9 11 1 1 0.0000667 1 0.000370028 0.006948068 9.72E-29 4.91E-13 YES 1_0 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 2 1351330 C T SNTG2 CCDS46220.1 r.? - - intronic 29 0 0 24 3 12.5 26 2 7.7 68 23 33.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 0.454277286 0.454277286 1 1.064566929 1.064566929 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000233853 1 0.007502227 1 7.7E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 2003999 C T MYT1L CCDS46222.1 r.? - - intronic 22 1 4.5 21 1 4.8 10 3 30 43 14 32.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.352941176 0.352941176 1 1.769911504 1.769911504 1 1.026771654 1.026771654 1 NA NA 1 NA NA 1 NA NA 1 9 NA 0.104413009 1 0.099912572 1 0.0000146 1 4.18E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 10347371 C A C2orf48 CCDS1670.1 r.? - - intronic 29 0 0 34 0 0 21 0 0 63 12 19 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.598425197 0.598425197 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 5.15E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 11106016 T C - - - - - - 31 0 0 35 3 8.6 17 3 17.6 73 22 30.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.632352941 0.632352941 1 1.038348083 1.038348083 1 0.948031496 0.948031496 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000725791 1 0.0000807 1 4.79E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 13702802 G T - - - - - - 31 0 0 36 5 13.9 30 3 10 74 24 32.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.022058824 1.022058824 1 0.589970501 0.589970501 1 1.020472441 1.020472441 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000104 1 0.000458697 1 8.21E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 19259896 C G - - - - - - 31 0 0 39 2 5.1 49 1 2 58 22 37.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.375 0.375 1 0.1179941 0.1179941 1 1.193700787 1.193700787 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.016387522 1 0.217776325 1 1.13E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 22514466 A T - - - - - - 17 0 0 39 3 7.7 29 3 10.3 63 20 31.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.566176471 0.566176471 1 0.607669617 0.607669617 1 0.998425197 0.998425197 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000998458 1 0.000414371 1 1.05E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 31069400 A T - - - - - - 30 0 0 39 2 5.1 41 2 4.9 57 23 40.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.375 0.375 1 0.289085546 0.289085546 1 1.272440945 1.272440945 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.016387522 1 0.018015855 1 5.38E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 34117744 C G - - - - - - 29 0 0 28 0 0 9 0 0 61 15 24.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.77480315 0.77480315 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.73E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 35368852 T G - - - - - - 34 0 0 31 0 0 34 0 0 45 12 26.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.840944882 0.840944882 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 6.03E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 36693251 G T CRIM1 CCDS1783.1 r.? - - intronic 21 0 0 22 2 9.1 9 2 22.2 51 13 25.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.669117647 0.669117647 1 1.309734513 1.309734513 1 0.803149606 0.803149606 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.005403392 1 0.000879235 1 4.87E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 38159747 G A FAM82A1 ENST00000406384 r.? - - intronic 12 0 0 6 2 33.3 5 3 60 31 11 35.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.448529412 2.448529412 1 3.539823009 3.539823009 1 1.118110236 1.118110236 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000370028 1 0.00000124 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 40390838 C G SLC8A1 CCDS1806.1 r.? - - intronic 31 0 0 43 0 0 45 0 0 65 19 29.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.919685039 0.919685039 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.89E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 42329614 C T - - - - - - 22 0 0 16 1 6.2 7 1 14.3 35 10 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.455882353 0.455882353 1 0.843657817 0.843657817 1 0.900787402 0.900787402 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.077068876 1 0.034479353 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 49591277 A T - - - - - - 26 0 0 30 2 6.7 35 2 5.7 61 6 9.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.492647059 0.492647059 1 0.336283186 0.336283186 1 0.308661417 0.308661417 1 NA NA 1 NA NA 1 NA NA 1 4 NA 1 1 0.009909649 1 0.013332991 1 0.000000685 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 56467015 A C CCDC85A CCDS46290.1 r.? - - intronic 27 0 0 30 2 6.7 34 5 14.7 70 22 31.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.492647059 0.492647059 1 0.867256637 0.867256637 1 0.988976378 0.988976378 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009909649 1 0.000000771 1 1.63E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 57411404 G T - - - - - - 40 0 0 30 3 10 26 3 11.5 70 25 35.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 0.678466077 0.678466077 1 1.124409449 1.124409449 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000458697 1 0.000298167 1 1.55E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 24246934 G A - - - - - - 35 0 0 26 3 11.5 19 1 5.3 77 15 19.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.960588235 0.960588235 1 0.365684366 0.365684366 1 0.809173228 0.809173228 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000298167 1 0.090843738 1 8.05E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 59286517 G A - - - - - - 15 0 0 41 0 0 39 1 2.6 82 24 29.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.15339233 0.15339233 1 0.922834646 0.922834646 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 0.177567718 1 1.47E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 59692312 C G - - - - - - 34 0 0 26 2 7.7 30 3 10 79 15 19 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.566176471 0.566176471 1 0.589970501 0.589970501 1 0.598425197 0.598425197 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.007502227 1 0.000458697 1 1.22E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 60311414 C G - - - - - - 21 0 0 20 4 20 4 1 25 35 12 34.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 1.474926254 1.474926254 1 1.080314961 1.080314961 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000284 1 0.019850499 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 61354774 T C KIAA1841 CCDS46296.1 r.? - - downstream 35 0 0 37 2 5.4 37 2 5.4 59 28 47.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.397058824 0.397058824 1 0.318584071 0.318584071 1 1.496062992 1.496062992 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.014826063 1 0.014826063 1 1.77E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 62042777 C G - - - - - - 26 0 0 28 2 7.1 20 2 10 76 27 35.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.522058824 0.522058824 1 0.589970501 0.589970501 1 1.118110236 1.118110236 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.008668191 1 0.004473894 1 1.67E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 62052738 T G FAM161A CCDS42687.2 r.2937a>c c.? p.? 3'UTR variant 44 0 0 31 1 3.2 22 2 9.1 58 10 17.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.235294118 0.235294118 1 0.536873156 0.536873156 1 0.541732283 0.541732283 1 NA NA 1 NA NA 1 NA NA 1 5 NA 1 1 0.143917729 1 0.005403392 1 4.1E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 65544136 T C SPRED2 CCDS33211.1 r.? - - intronic 24 0 0 25 2 8 20 3 15 58 20 34.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.588235294 0.588235294 1 0.884955752 0.884955752 1 1.086614173 1.086614173 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006948068 1 0.0001337 1 1.47E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 70208510 G A - - - - - - 24 0 0 41 0 0 35 0 0 61 12 19.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.620472441 0.620472441 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 3.39E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 74515219 C T SLC4A5 CCDS1936.1 r.? - - intronic 36 0 0 44 0 0 59 0 0 71 14 19.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.620472441 0.620472441 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.13E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 77187671 G A LRRTM4 CCDS46346.1 r.? - - intronic 31 0 0 38 4 10.5 42 3 7.1 53 23 43.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.772058824 0.772058824 1 0.418879056 0.418879056 1 1.366929134 1.366929134 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000403 1 0.001240292 1 6.43E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 78085843 A T - - - - - - 26 0 0 38 1 2.6 45 2 4.4 65 16 24.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.191176471 0.191176471 1 0.259587021 0.259587021 1 0.77480315 0.77480315 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.173434892 1 0.021467209 1 7.85E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 78681263 G A - - - - - - 26 0 0 37 0 0 45 0 0 48 12 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.44E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 79101490 T C - - - - - - 35 0 0 29 2 6.9 31 4 12.9 68 16 23.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.507352941 0.507352941 1 0.761061947 0.761061947 1 0.74015748 0.74015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009279585 1 0.0000177 1 1.75E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 79789518 G T CTNNA2 CCDS42703.2 r.? - - intronic 26 1 3.8 37 5 13.5 39 7 17.9 67 22 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.992647059 0.992647059 1 1.056047198 1.056047198 1 1.033070866 1.033070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 0.122190858 1 0.00000119 1 1.04E-09 1 5.21E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 81311922 A G - - - - - - 36 0 0 24 2 8.3 35 3 8.6 56 13 23.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.610294118 0.610294118 1 0.507374631 0.507374631 1 0.730708661 0.730708661 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006413403 1 0.000725791 1 1.89E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 82164924 G T - - - - - - 22 0 0 31 0 0 26 0 0 48 9 18.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.592125984 0.592125984 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.75E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 82242405 C A - - - - - - 37 0 0 36 0 0 41 0 0 58 13 22.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.705511811 0.705511811 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 3.12E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 82258464 T A - - - - - - 35 0 0 29 1 3.4 42 3 7.1 63 22 34.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.25 0.25 1 0.418879056 0.418879056 1 1.099212598 1.099212598 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.135292269 1 0.001240292 1 1.03E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 41924762 C G PDZRN4 CCDS8739.1 r.? - - intronic 10 0 0 11 5 45.5 13 1 7.7 24 5 20.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 3.345588235 3.345588235 1 0.454277286 0.454277286 1 0.641602412 0.641602412 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.41E-09 1 0.063085307 1 0.000000123 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 42934792 G T PRICKLE1 CCDS8742.1 r.? - - intronic 34 0 0 30 7 23.3 36 8 22.2 66 22 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.713235294 1.713235294 1 1.309734513 1.309734513 1 1.027180785 1.027180785 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 1.44E-10 1 1.04E-11 1 3.52E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 91862709 G A - - - - - - 28 0 0 23 3 13 21 3 14.3 59 9 15.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.955882353 0.955882353 1 0.843657817 0.843657817 1 0.481889764 0.481889764 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000205387 1 0.000155401 1 1.96E-11 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 61834340 G A YTHDF1 CCDS13511.1 r.1294c>u c.952C>T p.Q318* nonsense 23 0 0 32 4 12.5 2 0 0 59 11 18.6 79 0 0 7 0 0 27 7 25.9 7.45E-09 27 8 29.6 FALSE TRUE 0.987803221 0.987803221 1 0 NA 0 0.771826772 0.771826772 1 0 0 1 1.391791843 1.391791843 1 1.228283465 1.228283465 1 NA 12 1 1 0.0000201 1 1 6.36E-11 1.1E-14 7.97E-13 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 98693212 A C - - - - - - 27 0 0 18 2 11.1 27 2 7.4 47 12 25.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.436578171 0.436578171 1 0.803149606 0.803149606 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.003626632 1 0.00807567 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 102262485 G A - - - - - - 21 0 0 13 0 0 11 0 0 40 9 22.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.708661417 0.708661417 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 106096462 T A - - - - - - 23 0 0 37 0 0 29 0 0 57 20 35.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 1.105511811 1.105511811 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 9.67E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 106149574 G A - - - - - - 37 0 0 24 2 8.3 47 1 2.1 59 26 44.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.610294118 0.610294118 1 0.123893805 0.123893805 1 1.388976378 1.388976378 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.006413403 1 0.209895027 1 5.03E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 107504026 C T ST6GAL2 CCDS2073.1 r.? - - upstream 23 0 0 19 1 5.3 3 1 33.3 44 11 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.389705882 0.389705882 1 1.96460177 1.96460177 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.090843738 1 0.014925125 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 108190998 G A - - - - - - 16 0 0 22 1 4.5 5 1 20 35 10 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.330882353 0.330882353 1 1.179941003 1.179941003 1 0.900787402 0.900787402 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.104413009 1 0.024751247 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 109776373 A G SH3RF3 ENST00000309415 r.? - - intronic 33 0 0 35 3 8.6 33 3 9.1 67 20 29.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.632352941 0.632352941 1 0.536873156 0.536873156 1 0.941732283 0.941732283 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000725791 1 0.000609557 1 4.42E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 110428669 C T - - - - - - 39 0 0 22 5 22.7 5 0 0 61 11 18 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.669117647 1.669117647 1 0 0 1 0.566929134 0.566929134 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 7.67E-08 1 1 1 1.62E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 112775462 G T MERTK CCDS2094.1 r.? - - intronic 33 0 0 34 0 0 29 1 3.4 64 17 26.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.200589971 0.200589971 1 0.837795276 0.837795276 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 1 1 0.135292269 1 8.43E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 113395837 C T - - - - - - 36 0 0 26 0 0 32 0 0 70 22 31.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.988976378 0.988976378 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.63E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 115063595 G T - - - - - - 37 0 0 38 3 7.9 36 0 0 61 21 34.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.580882353 0.580882353 1 0 0 1 1.083464567 1.083464567 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.000925091 1 1 1 4.8E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 115794896 C G DPP10 CCDS46400.1 r.? - - intronic 26 0 0 26 2 7.7 39 4 10.3 62 24 38.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.566176471 0.566176471 1 0.607669617 0.607669617 1 1.218897638 1.218897638 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.007502227 1 0.0000447 1 4.81E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 125688682 A T - - - - - - 35 0 0 36 0 0 39 0 0 73 21 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.907086614 0.907086614 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 4.03E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 137515479 T C - - - - - - 32 0 0 28 2 7.1 30 4 13.3 66 16 24.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.522058824 0.522058824 1 0.784660767 0.784660767 1 0.762204724 0.762204724 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.008668191 1 0.0000154 1 1.03E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 140145806 G C - - - - - - 29 0 0 31 0 0 33 0 0 57 13 22.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.718110236 0.718110236 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 141433022 A G LRP1B CCDS2182.1 r.? - - intronic 31 0 0 40 3 7.5 39 3 7.7 64 16 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.551470588 0.551470588 1 0.454277286 0.454277286 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001075403 1 0.000998458 1 5.94E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 142157957 G C LRP1B CCDS2182.1 r.? - - intronic 30 0 0 39 0 0 31 0 0 84 17 20.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.636220472 0.636220472 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.42E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 143076421 G C - - - - - - 35 0 0 31 0 0 36 0 0 55 5 9.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.286614173 0.286614173 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.00000883 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 143882842 G T ARHGAP15 CCDS2184.1 r.? - - upstream 39 0 0 40 0 0 41 0 0 72 7 9.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.305511811 0.305511811 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 8.66E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 149579510 C T - - - - - - 20 0 0 39 2 5.1 18 3 16.7 46 16 34.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.375 0.375 1 0.985250737 0.985250737 1 1.096062992 1.096062992 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.016387522 1 0.0000964 1 1.31E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 149970982 G T LYPD6B CCDS46423.1 r.? - - intronic 34 0 0 44 3 6.8 26 1 3.8 69 18 26.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.5 0.5 1 0.224188791 0.224188791 1 0.822047244 0.822047244 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.00142027 1 0.122190858 1 5.16E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 156707086 T C - - - - - - 34 0 0 43 0 0 44 0 0 65 6 9.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.28976378 0.28976378 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.000001 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 160229350 C G BAZ2B CCDS2209.2 r.? - - intronic 31 0 0 39 0 0 43 0 0 43 8 18.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.585826772 0.585826772 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 168227026 G A - - - - - - 30 0 0 33 6 18.2 34 2 5.9 72 16 22.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.338235294 1.338235294 1 0.348082596 0.348082596 1 0.699212598 0.699212598 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.54E-08 1 0.012612579 1 4.82E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 168885084 G A STK39 CCDS42770.1 r.? - - intronic 38 1 2.6 39 8 20.5 43 11 25.6 70 23 32.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.507352941 1.507352941 1 1.510324484 1.510324484 1 1.036220472 1.036220472 1 NA NA 1 NA NA 1 NA NA 1 9 NA 0.173434892 1 2.09E-11 1 2.42E-16 1 1.7E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 169119595 G A - - - - - - 36 0 0 32 3 9.4 37 1 2.7 64 17 26.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.691176471 0.691176471 1 0.159292035 0.159292035 1 0.837795276 0.837795276 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.000556213 1 0.169281299 1 8.43E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 180254305 G A - - - - - - 23 0 0 28 4 14.3 28 2 7.1 63 12 19 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 0.418879056 0.418879056 1 0.598425197 0.598425197 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000116 1 0.008668191 1 5.15E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 95815949 A C ZNF514 CCDS2011.1 r.744u>g c.281T>G p.L94* nonsense 30 0 0 26 3 11.5 42 5 11.9 71 24 33.8 103 0 0 172 10 5.8 130 16 12.3 4.14E-13 151 43 28.5 TRUE TRUE 0.845588235 0.845588235 1 0.702064897 0.702064897 1 1.064566929 1.064566929 1 0.426470588 0.426470588 1 0.725663717 0.725663717 1 0.897637795 0.897637795 1 9 11 1 1 0.000298167 2.24E-08 0.00000228 1.08E-17 2.52E-37 7.22E-62 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 2 188563939 G A - - - - - - 37 0 0 37 2 5.4 37 4 10.8 46 19 41.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.397058824 0.397058824 1 0.637168142 0.637168142 1 1.300787402 1.300787402 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.014826063 1 0.0000362 1 6.97E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 193046818 G A TMEFF2 CCDS2314.1 r.? - - intronic 31 0 0 31 3 9.7 39 3 7.7 68 18 26.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.713235294 0.713235294 1 0.454277286 0.454277286 1 0.834645669 0.834645669 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000505952 1 0.000998458 1 3.83E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 193730341 G T - - - - - - 33 0 0 36 0 0 38 0 0 68 6 8.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.277165354 0.277165354 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.00000131 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 194332291 C T - - - - - - 19 0 0 34 3 8.8 51 4 7.8 64 22 34.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.647058824 0.647058824 1 0.460176991 0.460176991 1 1.083464567 1.083464567 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000666058 1 0.000129466 1 1.57E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 196501447 A G SLC39A10 ENST00000458054 r.? - - intronic 32 0 0 34 3 8.8 22 2 9.1 54 17 31.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.647058824 0.647058824 1 0.536873156 0.536873156 1 0.992125984 0.992125984 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000666058 1 0.005403392 1 3.02E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 201446269 C T AOX1 CCDS33360.1 r.? - - upstream 41 0 0 35 0 0 41 0 0 66 8 12.1 0 0 NA 1 0 0 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.381102362 0.381102362 1 0 0 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 1.73E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 204256082 G C ABI2 CCDS2358.1 r.? - - intronic 27 0 0 27 0 0 38 0 0 67 15 22.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.705511811 0.705511811 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 8.27E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 206103328 G A PARD3B CCDS42806.1 r.? - - intronic 27 0 0 21 2 9.5 28 3 10.7 54 25 46.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.698529412 0.698529412 1 0.631268437 0.631268437 1 1.458267717 1.458267717 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.004928472 1 0.000372895 1 4.36E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 208191681 A G - - - - - - 36 0 0 28 2 7.1 33 3 9.1 77 31 40.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.522058824 0.522058824 1 0.536873156 0.536873156 1 1.269291339 1.269291339 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.008668191 1 0.000609557 1 1.2E-50 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 210162574 G A - - - - - - 41 1 2.4 48 2 4.2 25 5 20 65 24 36.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.308823529 0.308823529 1 1.179941003 1.179941003 1 1.162204724 1.162204724 1 NA NA 1 NA NA 1 NA NA 1 9 NA 0.18577148 1 0.024220359 1 0.000000153 1 1.94E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 210571548 G C MAP2 CCDS2384.1 r.? - - intronic 37 0 0 30 2 6.7 45 2 4.4 62 16 25.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.492647059 0.492647059 1 0.259587021 0.259587021 1 0.812598425 0.812598425 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.009909649 1 0.021467209 1 3.36E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 216650021 G C - - - - - - 30 0 0 33 2 6.1 28 1 3.6 69 28 40.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.448529412 0.448529412 1 0.212389381 0.212389381 1 1.278740157 1.278740157 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.011909843 1 0.130947004 1 5.13E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 216717908 G C - - - - - - 32 0 0 35 1 2.9 48 2 4.2 67 25 37.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.213235294 0.213235294 1 0.247787611 0.247787611 1 1.17480315 1.17480315 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.16091139 1 0.024220359 1 4.07E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 226246159 T C - - - - - - 39 0 0 25 3 12 34 4 11.8 58 23 39.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.882352941 0.882352941 1 0.696165192 0.696165192 1 1.250393701 1.250393701 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00026475 1 0.0000257 1 8.87E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 230562906 G A DNER CCDS33390.1 r.? - - intronic 22 0 0 40 4 10 15 1 6.7 59 15 25.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 0.395280236 0.395280236 1 0.8 0.8 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000495 1 0.072431031 1 9.9E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 236792464 G C AGAP1 CCDS33408.1 r.? - - intronic 27 0 0 21 1 4.8 41 2 4.9 60 21 35 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.352941176 0.352941176 1 0.289085546 0.289085546 1 1.102362205 1.102362205 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.099912572 1 0.018015855 1 3.16E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 238284246 C T COL6A3 CCDS33412.1 r.? - - intronic 21 0 0 19 3 15.8 12 2 16.7 59 23 39 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.161764706 1.161764706 1 0.985250737 0.985250737 1 1.228346457 1.228346457 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000114071 1 0.001595918 1 1.45E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 238955562 T A UBE2F CCDS2523.1 r.? - - downstream 30 0 0 39 0 0 23 0 0 65 18 27.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.872440945 0.872440945 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.52E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 238956889 G C - - - - - - 27 0 0 31 0 0 32 0 0 64 17 26.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.837795276 0.837795276 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 8.43E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 2 239084258 C T ILKAP CCDS2526.1 r.? - - intronic 33 0 0 27 3 11.1 29 4 13.8 53 14 26.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.814159292 0.814159292 1 0.831496063 0.831496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000334187 1 0.0000134 1 1.22E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 634090 G A SRXN1 CCDS13005.1 r.? - - upstream 20 0 0 1 0 0 3 0 0 41 10 24.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.768503937 0.768503937 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 69119609 T G NUP107 CCDS8985.1 r.? - - intronic 14 0 0 39 1 2.6 35 5 14.3 42 1 2.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.191176471 0.191176471 1 0.843657817 0.843657817 1 0.074031048 NA 0 NA NA 1 NA NA 1 NA NA 0 NA NA 1 1 0.177567718 1 0.000000895 1 0.189842622 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 8756991 C T PLCB1 CCDS13103.1 r.? - - intronic 28 0 0 24 0 0 49 4 8.2 80 16 20 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.533551014 0.533551014 1 0.82992126 0.82992126 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 0.000110643 1 3.04E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 10482056 G A C20orf94 CCDS33439.1 r.? - - intronic 35 0 0 31 1 3.2 35 2 5.7 69 7 10.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.260375409 0.260375409 1 0.370883022 0.370883022 1 0.419110236 0.419110236 1 NA NA 1 NA NA 1 NA NA 1 5 NA 1 1 0.143917729 1 0.013332991 1 6.43E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 10903190 A G - - - - - - 35 0 0 20 2 10 57 5 8.8 76 19 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.813673153 0.813673153 1 0.572591332 0.572591332 1 1.037401575 1.037401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.004473894 1 0.0000105 1 5.56E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 11299890 G T - - - - - - 32 0 0 31 2 6.5 37 3 8.1 96 19 19.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.528887549 0.528887549 1 0.527044294 0.527044294 1 0.821622047 0.821622047 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.010558179 1 0.000855237 1 7.42E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 11934547 G C - - - - - - 30 0 0 38 0 0 44 0 0 96 9 9.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.390062992 0.390062992 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 1.71E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 14170817 G T MACROD2 CCDS13120.2 r.? - - intronic 34 0 0 44 2 4.5 34 2 5.9 62 12 19.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.366152919 0.366152919 1 0.383896461 0.383896461 1 0.805023622 0.805023622 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.020580492 1 0.012612579 1 4.19E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 16072808 A C - - - - - - 31 0 0 42 0 0 26 0 0 92 12 13 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.539448819 0.539448819 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 6.12E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 16968788 G A - - - - - - 19 0 0 20 1 5 29 3 10.3 65 15 23.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.406836576 0.406836576 1 0.670192127 0.670192127 1 0.958559055 0.958559055 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.09538952 1 0.000414371 1 5E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 17102128 G A - - - - - - 35 0 0 40 2 5 50 1 2 73 14 19.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.406836576 0.406836576 1 0.130134394 0.130134394 1 0.796724409 0.796724409 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.017193422 1 0.221687443 1 1.71E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 19528451 T C SLC24A3 CCDS13140.1 r.? - - intronic 20 0 0 35 3 8.6 38 4 10.5 108 29 26.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.699758911 0.699758911 1 0.683205567 0.683205567 1 1.116244094 1.116244094 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000725791 1 0.0000403 1 2.13E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 19837002 A C - - - - - - 38 0 0 38 3 7.9 37 3 8.1 92 23 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.642801791 0.642801791 1 0.527044294 0.527044294 1 1.037401575 1.037401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000925091 1 0.000855237 1 2.41E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 20678056 T A RALGAPA2 CCDS46584.1 r.? - - intronic 35 0 0 52 0 0 34 0 0 87 20 23 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.954409449 0.954409449 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.65E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 21472519 C A - - - - - - 24 0 0 38 3 7.9 35 2 5.7 87 18 20.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.642801791 0.642801791 1 0.370883022 0.370883022 1 0.858968504 0.858968504 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000925091 1 0.013332991 1 5.29E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 23192603 G A - - - - - - 36 0 0 29 1 3.4 33 1 3 80 30 37.5 0 0 NA 0 0 NA 1 0 0 1 0 0 NA FALSE FALSE 0.268682476 0.268682476 1 0.16121141 NA 0 1.181102362 1.181102362 1 NA NA 1 0 NA 0 NA NA 1 NA NA 1 1 0.135292269 1 0.15245715 1 6.48E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 25294081 C T ABHD12 CCDS42857.1 r.? - - intronic 13 0 0 12 1 8.3 10 1 10 23 8 34.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.655901339 0.655901339 1 0.537371368 0.537371368 1 1.096062992 1.096062992 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.058377193 1 0.04888987 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 29475213 T C - - - - - - 89 0 0 86 2 2.3 94 2 2.1 160 18 11.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.181755793 0.181755793 1 0.112847987 NA 0 0.352755906 0.352755906 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.069370687 1 0.080854778 1 5.31E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 30010929 G C - - - - - - 26 0 0 40 1 2.5 46 3 6.5 94 13 13.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.197560644 0.197560644 1 0.349291389 0.736888193 0.474008666 0.572645669 0.572645669 1 NA NA 1 NA NA 0 NA NA 1 5 NA 1 1 0.181679879 1 0.001615827 1 2.52E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 34116446 T A C20orf173 CCDS46594.1 r.? - - intronic 27 0 0 38 2 5.3 13 0 0 75 21 28 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.418828566 0.418828566 1 0 NA 0 1.161889764 1.161889764 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.015598339 1 1 1 7.75E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 34222831 T A CPNE1 CCDS13260.1 r.? - - intronic 32 0 0 30 4 13.3 31 3 9.7 63 17 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051022628 1.051022628 1 0.521250227 0.521250227 1 1.120393701 1.120393701 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000154 1 0.000505952 1 6.22E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 35821535 C G RPN2 CCDS13291.1 r.? - - intronic 28 0 0 38 0 0 31 0 0 99 10 10.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.419110236 0.419110236 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 1.01E-10 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 37071445 C A - - - - - - 32 0 0 45 3 6.7 32 3 9.4 105 31 29.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.529462527 0.529462527 1 0.505129086 0.505129086 1 1.224133858 1.224133858 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.001516071 1 0.000556213 1 1.29E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 37642516 G T DHX35 CCDS13310.1 r.? - - intronic 39 0 0 32 0 0 38 0 0 109 33 30.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 NA 0 0 NA 0 1.257330709 1.257330709 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 7.09E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 9265406 C T A2M CCDS44827.1 r.? - - intronic 35 0 0 44 0 0 66 4 6.1 131 18 13.7 210 0 0 242 4 1.7 434 9 2.1 0.032553187 635 115 18.1 TRUE TRUE 0 0 1 0.439637907 1.429838619 0.307473796 0.842496063 0.842496063 1 0.176 0.176 1 0.151350755 0.151350755 1 1.11307874 1.11307874 1 9 9 1 1 1 0.034248041 0.000351793 0.000406027 1.32E-20 2.15E-137 YES 0_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 20 42413830 T C - - - - - - 25 0 0 24 0 0 36 0 0 51 8 15.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.651488189 0.651488189 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 2.05E-10 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 42577331 G A TOX2 CCDS42875.1 r.? - - intronic 19 0 0 47 4 8.5 14 2 14.3 62 20 32.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.671706191 0.671706191 1 0.768441056 0.768441056 1 1.340322835 1.340322835 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000939 1 0.002185852 1 7.19E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 46753614 C A - - - - - - 36 0 0 44 0 0 27 0 0 92 7 7.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.315370079 0.315370079 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 0.000000472 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 48447684 G T SLC9A8 CCDS13421.1 r.? - - intronic 39 0 0 38 0 0 15 0 0 93 6 6.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.269724409 0.269724409 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 0.00000821 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 66704914 C T - - - - - - 21 0 0 23 1 4.3 12 2 16.7 47 12 25.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.316176471 0.316176471 1 0.985250737 0.985250737 1 0.773610191 0.773610191 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.108890944 1 0.001595918 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 53997904 G T - - - - - - 32 0 0 33 3 9.1 39 3 7.7 87 22 25.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.719120745 0.719120745 1 0.413775953 0.413775953 1 1.049850394 1.049850394 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000609557 1 0.000998458 1 3.97E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 57046079 C T APCDD1L CCDS13467.1 r.? - - intronic 25 0 0 26 0 0 3 0 0 72 12 16.7 1 0 0 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.692984252 0.692984252 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 2.84E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 57048011 C G APCDD1L CCDS13467.1 r.? - - intronic 33 0 0 48 0 0 30 0 0 88 15 17 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.705433071 0.705433071 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 6.87E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 57536501 C T ENSG00000234857 ENST00000445014 r.? - - intronic 33 0 0 38 2 5.3 43 1 2.3 62 19 30.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.418828566 0.418828566 1 0.123595415 NA 0 1.269779528 1.269779528 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.015598339 1 0.193893409 1 6.66E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 71288468 C A - - - - - - 33 0 0 29 3 10.3 32 8 25 64 17 26.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 1.474926254 1.474926254 1 0.806981611 0.806981611 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000414371 1 3.69E-12 1 8.43E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 60876718 A T ADRM1 CCDS13496.1 r.? - - upstream 28 0 0 38 7 18.4 9 1 11.1 72 35 48.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.454046342 1.454046342 1 0.596482219 0.596482219 1 2.016708661 1.008354331 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 8.61E-10 1 0.044110422 1 1.05E-60 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 12005736 A G ETV6 CCDS8643.1 r.? - - intronic 26 0 0 49 0 0 45 4 8.9 152 28 18.4 176 0 0 202 4 2 243 7 2.9 0.011884933 395 61 15.4 TRUE TRUE 0 0 1 0.641438914 0.641438914 1 1.131527559 1.131527559 1 0.207058824 0.207058824 1 0.209008186 0.679759343 0.307473796 0.94703937 0.94703937 1 6 11 1 1 1 0.019296001 0.0000791 0.000254834 5.84E-35 3.06E-69 YES 0_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 20 62694419 C T TCEA2 CCDS13554.1 r.410c>u c.? p.? 5'UTR variant 29 0 0 8 1 12.5 2 0 0 52 14 26.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.987803221 0.987803221 1 0 NA 0 1.116244094 1.116244094 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.039306956 1 1 1 9.04E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 9692758 C T - - - - - - 40 0 0 40 2 5 46 3 6.5 100 11 11 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.317647059 0.317647059 1 0.318480826 0.318480826 1 0.243985911 0.243985911 1 NA NA 1 NA NA 1 NA NA 1 4 NA 1 1 0.017193422 1 0.001615827 1 4.6E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 10386197 G T - - - - - - 85 0 0 112 2 1.8 93 4 4.3 160 25 15.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.114352941 0.114352941 1 0.210687316 0.210687316 1 0.346016382 0.346016382 1 NA NA 1 NA NA 1 NA NA 1 4 NA 1 1 0.10855951 1 0.001280785 1 1.76E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 83268995 A G TMTC2 CCDS9025.1 r.? - - intronic 37 0 0 29 1 3.4 33 0 0 67 10 14.9 159 0 0 85 0 0 88 0 0 1 102 29 28.4 TRUE TRUE 0.25 0.25 1 0 0 1 0.45960942 0.45960942 1 0 0 1 0 0 1 0.876034063 0.876034063 1 5 2 1 1 0.135292269 1 1 1 1.87E-12 3.18E-42 YES 0_0 0_0 1_1 somatic custom.pulldown.HiSeq PD9777b 12 105983664 C T - - - - - - 39 0 0 41 0 0 30 1 3.3 51 19 37.3 196 0 0 344 34 9.9 417 30 7.2 1.22E-16 387 130 33.6 TRUE TRUE 0 0 1 0.194690265 0.194690265 1 1.150565864 1.150565864 1 0.727941176 0.727941176 1 0.424778761 0.424778761 1 1.036434666 1.036434666 1 6 9 1 1 1 1.41E-32 0.139615808 7.43E-25 7.94E-31 1.67E-194 YES 0_1 0_1 1_1 somatic custom.pulldown.HiSeq PD9777b 21 10628037 G A - - - - - - 105 0 0 95 5 5.3 85 4 4.7 160 16 10 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.336705882 0.336705882 1 0.230286136 0.230286136 1 0.221805373 0.221805373 1 NA NA 1 NA NA 1 NA NA 1 4 NA 1 1 0.000124602 1 0.000916711 1 3.14E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 18367363 A C - - - - - - 39 0 0 41 0 0 40 0 0 41 16 39 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.865040956 0.865040956 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.4E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 18944778 C T CXADR CCDS33519.1 r.? - - downstream 36 1 2.8 31 6 19.4 21 3 14.3 42 20 47.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.232470588 1.232470588 1 0.700657817 0.700657817 1 1.055793577 1.055793577 1 NA NA 1 NA NA 1 NA NA 1 9 NA 0.165106833 1 1.03E-08 1 0.000155401 1 4.41E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 21215939 G A - - - - - - 31 0 0 27 4 14.8 6 1 16.7 43 9 20.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.088235294 1.088235294 1 0.985250737 0.985250737 1 0.658267717 0.658267717 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00001 1 0.029627491 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 21267558 C A - - - - - - 39 0 0 28 1 3.6 24 2 8.3 56 20 35.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.264705882 0.264705882 1 0.489675516 0.489675516 1 1.124409449 1.124409449 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.130947004 1 0.006413403 1 6.31E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 21400609 T C - - - - - - 50 0 0 35 0 0 30 0 0 53 10 18.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.595275591 0.595275591 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.57E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 23914108 C T - - - - - - 38 0 0 32 3 9.4 27 3 11.1 66 22 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.691176471 0.691176471 1 0.654867257 0.654867257 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000556213 1 0.000334187 1 3.52E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 23956524 G A - - - - - - 27 0 0 39 3 7.7 16 4 25 56 18 32.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.566176471 0.566176471 1 1.474926254 1.474926254 1 1.011023622 1.011023622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000998458 1 0.00000108 1 6.76E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 24484769 C T - - - - - - 32 0 0 34 1 2.9 44 0 0 48 11 22.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.213235294 0.213235294 1 0 0 1 0.721259843 0.721259843 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 0.156694864 1 1 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 24598278 G A - - - - - - 33 0 0 22 2 9.1 30 3 10 51 15 29.4 0 0 NA 0 0 NA 2 0 0 1 0 0 NA TRUE FALSE 0.669117647 0.669117647 1 0.589970501 0.589970501 1 0.925984252 0.925984252 1 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 0.005403392 1 0.000458697 1 8.22E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 78582060 A G - - - - - - 28 0 0 38 6 15.8 37 2 5.4 65 19 29.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.161764706 1.161764706 1 0.318584071 0.318584071 1 0.885859513 0.885859513 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 3.76E-08 1 0.014826063 1 1.89E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 25217631 T G - - - - - - 30 0 0 35 0 0 32 0 0 52 11 21.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.667716535 0.667716535 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.44E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 25217632 G T - - - - - - 30 0 0 34 0 0 34 0 0 52 11 21.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.667716535 0.667716535 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.44E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 30158769 G C - - - - - - 27 0 0 28 0 0 23 0 0 64 6 9.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.296062992 0.296062992 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.000000914 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 88671168 C A - - - - - - 34 0 0 40 6 15 23 2 8.7 84 20 23.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.252941176 1.252941176 1 0.600274336 0.600274336 1 0.987606299 0.987606299 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 5.18E-08 1 0.00589844 1 7.54E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 115693169 C G - - - - - - 29 0 0 34 0 0 35 1 2.9 65 17 26.2 178 0 0 186 20 10.8 229 17 7.4 2.70E-10 215 49 22.8 TRUE TRUE 0 0 1 0.171091445 0.171091445 1 0.808172269 0.808172269 1 0.794117647 0.794117647 1 0.436578171 0.436578171 1 0.703294952 0.703294952 1 6 11 1 1 1 1.51E-20 0.16091139 5.61E-15 1.14E-24 6.66E-65 YES 0_1 0_1 1_1 somatic custom.pulldown.HiSeq PD9777b 21 39127221 T A KCNJ6 CCDS42927.1 r.? - - intronic 31 0 0 26 3 11.5 32 2 6.2 50 14 28 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.845588235 0.845588235 1 0.365781711 0.365781711 1 0.881889764 0.881889764 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000298167 1 0.011224977 1 4.84E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 44594599 G A CRYAA CCDS13695.1 r.? - - downstream 22 0 0 26 2 7.7 3 0 0 53 15 28.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.566176471 0.566176471 1 0 NA 0 0.891338583 0.891338583 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.007502227 1 1 1 1.6E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 44763065 G A - - - - - - 31 0 0 33 3 9.1 11 0 0 43 9 20.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.669117647 0.669117647 1 0 NA 0 0.658267717 0.658267717 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.000609557 1 1 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 45678924 G C DNMT3L CCDS13705.1 r.? - - intronic 30 0 0 22 2 9.1 7 2 28.6 63 22 34.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.669117647 0.669117647 1 1.238812186 1.238812186 1 1.099212598 1.099212598 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.005403392 1 0.000516315 1 1.03E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 46888721 G A COL18A1 ENST00000359759 r.? - - intronic 25 0 0 21 3 14.3 2 1 50 32 9 28.1 0 0 NA 2 2 100 3 0 0 1 2 0 0 TRUE FALSE 1.051470588 1.051470588 1 2.16575557 2.16575557 1 0.88503937 0.88503937 1 7.352941176 7.352941176 1 0 NA 0 0 0 1 9 NA 1 1 0.000155401 0.000025 0.009975 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 47290916 C A PCBP3 CCDS42974.2 r.? - - intronic 23 0 0 23 2 8.7 10 2 20 42 11 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.639705882 0.639705882 1 0.866302228 0.866302228 1 0.82519685 0.82519685 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.00589844 1 0.001095391 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 47848564 C T PCNT CCDS33592.1 r.? - - intronic 32 0 0 33 2 6.1 4 1 25 50 10 20 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.448529412 0.448529412 1 1.082877785 1.082877785 1 0.62992126 0.62992126 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.011909843 1 0.019850499 1 8.36E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 16340781 G A - - - - - - 22 0 0 24 3 12.5 3 1 33.3 23 8 34.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 1.29860177 1.29860177 1 1.096062992 1.096062992 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000233853 1 0.014925125 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 16991962 G A - - - - - - 44 0 0 37 1 2.7 43 4 9.3 94 8 8.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.198529412 0.198529412 1 0.362672566 0.362672566 1 0.267716535 0.267716535 1 NA NA 1 NA NA 0 NA NA 1 4 NA 1 1 0.169281299 1 0.000066 1 2.97E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 17043580 A T - - - - - - 24 0 0 19 2 10.5 12 3 25 53 16 30.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.772058824 0.772058824 1 0.974926254 0.974926254 1 0.951181102 0.951181102 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.004039874 1 0.0000266 1 1.9E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 18428595 G A ENSG00000093100 CCDS46659.1 r.? - - intronic 21 0 0 34 2 5.9 23 3 13 81 26 32.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.433823529 0.433823529 1 0.506961652 0.506961652 1 1.011023622 1.011023622 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.012612579 1 0.000205387 1 1.29E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 19035431 G A DGCR2 CCDS33598.1 r.? - - intronic 30 0 0 31 2 6.5 26 5 19.2 69 23 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.477941176 0.477941176 1 0.748743363 0.748743363 1 1.048818898 1.048818898 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.010558179 1 0.000000188 1 1.15E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 19486190 G A CDC45L CCDS13762.1 r.? - - intronic 27 0 0 29 3 10.3 14 2 14.3 73 25 34.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 0.557657817 0.557657817 1 1.077165354 1.077165354 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000414371 1 0.002185852 1 5.49E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 12 127295404 A T - - - - - - 32 0 0 32 0 0 39 0 0 63 5 7.9 39 0 0 168 0 0 247 0 0 1 238 20 8.4 TRUE TRUE 0 0 1 0 0 1 0.243685531 0.243685531 1 0 0 1 0 0 1 0.259108666 0.259108666 1 1 1 1 1 1 1 1 1 0.0000173 2.07E-18 YES 0_0 0_0 1_1 somatic custom.pulldown.HiSeq PD9777b 22 21234118 G C SNAP29 CCDS13784.1 r.? - - intronic 24 0 0 27 0 0 18 0 0 62 22 35.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 1.118110236 1.118110236 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 6.75E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 23425351 G A GNAZ CCDS13804.1 r.? - - intronic 38 0 0 33 1 3 8 1 12.5 69 23 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.220588235 0.220588235 1 0.487463127 0.487463127 1 1.048818898 1.048818898 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.15245715 1 0.039306956 1 1.15E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 24767931 T C CYTSA CCDS33619.1 r.? - - intronic 25 0 0 34 0 0 28 0 0 61 14 23 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.724409449 0.724409449 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 1.1E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 19683363 C A ENSG00000206197 ENST00000383040 r.? - - upstream 10 0 0 17 2 11.8 11 0 0 33 6 18.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.867647059 0.867647059 1 0 0 1 0.573228346 0.573228346 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.003234386 1 1 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 29033122 A G TTC28 CCDS46678.1 r.? - - intronic 28 0 0 33 0 0 13 0 0 68 17 25 2 0 0 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.787401575 0.787401575 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 2.69E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 29288679 A T ZNRF3 CCDS42999.1 r.? - - intronic 31 0 0 31 3 9.7 20 1 5 71 16 22.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.713235294 0.713235294 1 0.194985251 NA 0 0.708661417 0.708661417 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.000505952 1 0.09538952 1 3.77E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 32296255 A T DEPDC5 CCDS43006.1 r.? - - intronic 26 0 0 28 3 10.7 13 2 15.4 77 31 40.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.786764706 0.786764706 1 0.600554572 0.600554572 1 1.269291339 1.269291339 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000372895 1 0.001879825 1 1.2E-50 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 33594881 C G LARGE ENST00000452586 r.? - - intronic 25 0 0 27 0 0 44 0 0 64 21 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 1.033070866 1.033070866 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 1.6E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 33629855 T C LARGE ENST00000452586 r.? - - intronic 19 0 0 42 3 7.1 36 1 2.8 66 19 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.522058824 0.522058824 1 0.10919174 NA 0 0.907086614 0.907086614 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.001240292 1 0.165106833 1 2.64E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 28362222 C A - - - - - - 29 0 0 32 2 6.2 34 5 14.7 57 22 38.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.455882353 0.455882353 1 0.867256637 0.867256637 1 1.215748031 1.215748031 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011224977 1 0.000000771 1 7.03E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 37577103 G A C1QTNF6 CCDS13943.1 r.2038c>u c.? p.? 3'UTR variant 29 0 0 23 2 8.7 4 0 0 59 24 40.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.639705882 0.639705882 1 0 NA 0 1.281889764 1.281889764 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.00589844 1 1 1 1.09E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 38344007 G A C22orf23 CCDS13962.1 r.? - - intronic 29 0 0 23 0 0 21 0 0 58 8 13.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.434645669 0.434645669 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 5.99E-10 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 39732057 G T - - - - - - 35 0 0 26 0 0 32 0 0 75 16 21.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.670866142 0.670866142 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 9.88E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 40287480 T C ENTHD1 CCDS13998.1 r.? - - intronic 26 0 0 31 0 0 40 0 0 53 6 11.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.355905512 0.355905512 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 0.000000293 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 84651305 C T ADAMTSL3 CCDS10326.1 r.3149c>u c.2925C>T p.P975P silent 30 0 0 36 0 0 11 0 0 49 10 20.4 129 0 0 73 0 0 78 0 0 1 76 19 25 TRUE TRUE 0 0 1 0 0 1 0.642519685 0.642519685 1 0 0 1 0 0 1 0.787401575 0.787401575 1 2 2 1 1 1 1 1 1 6.72E-14 5.56E-27 YES 0_0 0_0 1_1 somatic custom.pulldown.HiSeq PD9777b 22 42815869 T A NFAM1 CCDS14034.1 r.? - - intronic 33 0 0 33 0 0 16 0 0 58 19 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 1.033070866 1.033070866 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 1.5E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 42872345 C G - - - - - - 34 1 2.9 27 6 22.2 22 3 13.6 63 16 25.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.632352941 1.632352941 1 0.530359882 0.530359882 1 0.8 0.8 1 NA NA 1 NA NA 0 NA NA 1 9 NA 0.156694864 1 4.23E-09 1 0.000179267 1 4.48E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 48649590 G C - - - - - - 28 0 0 39 0 0 10 0 0 60 6 10 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.31496063 0.31496063 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 0.000000621 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 50454144 G T IL17REL CCDS33679.1 r.? - - upstream 13 0 0 8 1 12.5 2 0 0 33 9 27.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.919117647 0.919117647 1 0 NA 0 0.85984252 0.85984252 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.039306956 1 1 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 50884578 G A SBF1 CCDS14091.1 r.? - - downstream 28 0 0 14 0 0 2 0 0 53 12 22.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.711811024 0.711811024 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 5.39E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 643350 G C - - - - - - 41 0 0 45 7 15.6 43 2 4.7 59 5 8.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.991058824 0.991058824 1 0.230286136 0.230286136 1 0.182716535 0.182716535 1 NA NA 1 NA NA 1 NA NA 1 7 NA 1 1 0.000000003 1 0.019709573 1 0.0000125 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 24601206 T A - - - - - - 35 0 0 41 4 9.8 42 0 0 63 3 4.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.622588235 0.622588235 1 0 0 1 0.103181102 0.103181102 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.0000546 1 1 1 0.003968795 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 3715672 G C - - - - - - 23 0 0 30 0 0 23 0 0 37 15 40.5 1 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.870590551 0.870590551 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.58E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 7313501 G A GRM7 CCDS43042.1 r.? - - intronic 40 0 0 21 3 14.3 26 4 15.4 45 19 42.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.908470588 0.908470588 1 0.754554572 0.754554572 1 0.907133858 0.907133858 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000155401 1 0.00000856 1 4.11E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 9040324 C G SRGAP3 CCDS33689.1 r.? - - intronic 33 0 0 30 1 3.3 32 4 12.5 56 28 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.209647059 0.209647059 1 0.612463127 0.612463127 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.139615808 1 0.0000201 1 2.49E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 26388778 T G - - - - - - 18 0 0 32 1 3.1 7 0 0 26 9 34.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.196941176 0.196941176 1 0 0 1 0.74376378 0.74376378 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.14819814 1 1 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 31333510 G T - - - - - - 26 0 0 36 0 0 26 0 0 40 6 15 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.322440945 0.322440945 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 32722421 A C - - - - - - 17 0 0 22 1 4.5 16 3 18.8 23 1 4.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.285882353 0.285882353 1 0.921144543 0.921144543 1 0.092433071 0.092433071 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.104413009 1 0.0000667 1 0.108890944 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 37772325 T G ITGA9 CCDS2669.1 r.? - - intronic 30 0 0 33 0 0 30 1 3.3 44 16 36.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.161690265 0.161690265 1 0.782456693 0.782456693 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 0.139615808 1 5.57E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 41171721 G C - - - - - - 32 0 0 30 0 0 36 0 0 45 6 13.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.285897638 0.285897638 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.000000108 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 43036235 C T FAM198A CCDS46808.1 r.? - - intronic 28 0 0 34 0 0 24 0 0 47 6 12.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.275149606 0.275149606 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.000000141 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 45423080 G C - - - - - - 35 0 0 35 2 5.7 18 2 11.1 44 22 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.362117647 0.362117647 1 0.543867257 0.543867257 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.013332991 1 0.003626632 1 4.51E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 50195708 T C SEMA3F CCDS2811.1 r.? - - intronic 32 0 0 24 0 0 7 0 0 56 21 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.806102362 0.806102362 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 5.43E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 53043658 A T SFMBT1 CCDS2867.1 r.? - - intronic 23 0 0 31 3 9.7 24 0 0 43 20 46.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.616235294 0.616235294 1 0 0 1 0.999566929 0.999566929 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.000505952 1 1 1 8.21E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 58869345 A G C3orf67 CCDS33776.1 r.? - - intronic 39 0 0 30 0 0 38 0 0 46 14 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.653480315 0.653480315 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.26E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 64475442 C T - - - - - - 24 0 0 23 2 8.7 9 2 22.2 48 27 56.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.552705882 0.552705882 1 1.087734513 1.087734513 1 1.20807874 1.20807874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00589844 1 0.000879235 1 1.5E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 64519994 C T ADAMTS9 CCDS2903.1 r.? - - intronic 35 0 0 32 0 0 32 0 0 36 6 16.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.358984252 0.358984252 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 43077945 T G TTBK2 CCDS42029.1 r.? - - intronic 30 0 0 24 4 16.7 21 0 0 42 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 0 0 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.00000613 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 44368081 T A FRMD5 CCDS10107.2 r.? - - intronic 27 0 0 40 1 2.5 55 6 10.9 66 1 1.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.183823529 0.183823529 1 0.643067847 0.643067847 1 0.047244094 0.047244094 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 0.181679879 1 0.000000367 1 0.281671117 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 77167075 A G ROBO2 CCDS43109.1 r.? - - intronic 28 0 0 34 0 0 41 0 0 44 19 43.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.928629921 0.928629921 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.39E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 78796387 A G ROBO1 CCDS46872.1 r.? - - intronic 39 0 0 23 0 0 26 0 0 45 7 15.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.335338583 0.335338583 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.000000003 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 81880033 T C - - - - - - 31 0 0 30 2 6.7 31 3 9.7 45 23 51.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.425647059 0.425647059 1 0.475271386 0.475271386 1 1.098448819 1.098448819 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.009909649 1 0.000505952 1 4.42E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 82896023 A G - - - - - - 38 0 0 32 2 6.2 43 4 9.3 49 19 38.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.393882353 0.393882353 1 0.455672566 0.455672566 1 0.834047244 0.834047244 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.011224977 1 0.000066 1 3.12E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 83638483 G T - - - - - - 33 0 0 33 2 6.1 35 1 2.9 36 13 36.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.387529412 0.387529412 1 0.142091445 0.142091445 1 0.776007874 0.776007874 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.011909843 1 0.16091139 1 2.53E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 95359663 G A - - - - - - 28 0 0 28 2 7.1 44 2 4.5 64 16 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.522058824 0.522058824 1 0.265486726 0.265486726 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.008668191 1 0.020580492 1 5.94E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 100354699 T A GPR128 CCDS2938.1 r.? - - intronic 19 0 0 39 1 2.6 36 1 2.8 70 7 10 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.191176471 0.191176471 1 0.16519174 0.16519174 1 0.31496063 0.31496063 1 NA NA 1 NA NA 1 NA NA 1 4 NA 1 1 0.177567718 1 0.165106833 1 7.11E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 103335939 G A - - - - - - 36 0 0 42 0 0 47 0 0 63 18 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.900787402 0.900787402 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 7.98E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 103589386 C A - - - - - - 34 0 0 36 1 2.8 43 0 0 62 15 24.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.205882353 0.205882353 1 0 0 1 0.762204724 0.762204724 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 0.165106833 1 1 1 2.28E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 110119756 G C - - - - - - 37 0 0 36 0 0 37 0 0 61 16 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.82519685 0.82519685 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.5E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 112215527 C T BTLA CCDS33819.1 r.? - - intronic 40 0 0 39 4 10.3 42 2 4.8 84 31 36.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 0.283185841 0.283185841 1 1.162204724 1.162204724 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.0000447 1 0.018854633 1 3.39E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 120170208 G A MIR198 CCDS2998.1 r.? - - upstream 31 0 0 7 1 14.3 1 0 0 36 9 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 0 0 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.034479353 1 1 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 123102019 C T ADCY5 CCDS3022.1 r.? - - intronic 28 0 0 26 3 11.5 6 1 16.7 45 16 35.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.845588235 0.845588235 1 0.985250737 0.985250737 1 1.121259843 1.121259843 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000298167 1 0.029627491 1 8.61E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 126768565 G C - - - - - - 26 0 0 25 1 4 12 1 8.3 69 24 34.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.294117647 0.294117647 1 0.489675516 0.489675516 1 1.096062992 1.096062992 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.117779757 1 0.058377193 1 1.11E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 139788621 A C CLSTN2 CCDS3112.1 r.? - - intronic 27 0 0 37 1 2.7 31 2 6.5 54 20 37 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.198529412 0.198529412 1 0.383480826 0.383480826 1 1.165354331 1.165354331 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.169281299 1 0.010558179 1 2.61E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 141668445 G A TFDP2 CCDS43159.1 r.? - - downstream 22 0 0 24 4 16.7 11 1 9.1 47 14 29.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.227941176 1.227941176 1 0.536873156 0.536873156 1 0.938582677 0.938582677 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000613 1 0.05364542 1 1.79E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 147088859 G A - - - - - - 43 0 0 33 4 12.1 26 4 15.4 80 23 28.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 0.908554572 0.908554572 1 0.903937008 0.903937008 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 0.00000856 1 6.19E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 148444224 G A AGTR1 CCDS3137.1 r.? - - intronic 32 0 0 33 0 0 36 0 0 49 11 22.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.705511811 0.705511811 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.19E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 153655650 G C - - - - - - 30 0 0 40 0 0 32 0 0 60 10 16.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.525984252 0.525984252 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 5.86E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 154703739 G T - - - - - - 21 0 0 29 0 0 34 0 0 73 15 20.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.645669291 0.645669291 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 3.38E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 154786316 G A MME CCDS3172.1 r.? - - intronic 26 0 0 43 0 0 31 0 0 57 17 29.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.938582677 0.938582677 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 8.82E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 163311590 C T - - - - - - 25 0 0 27 0 0 37 0 0 56 14 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.787401575 0.787401575 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.91E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 165040743 G A - - - - - - 31 0 0 30 3 10 29 1 3.4 49 13 26.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 0.200589971 0.200589971 1 0.834645669 0.834645669 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000458697 1 0.135292269 1 2.71E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 165107824 T G - - - - - - 20 0 0 37 0 0 29 0 0 51 5 9.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.308661417 0.308661417 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.00000606 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 166334607 A G - - - - - - 29 0 0 43 3 7 37 3 8.1 68 12 17.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.584705882 0.584705882 1 0.558876106 0.558876106 1 0.730330709 0.730330709 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001328364 1 0.000855237 1 1.37E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 166966700 A C ZBBX CCDS3199.2 r.? - - intronic 39 0 0 29 0 0 42 0 0 84 17 20.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.838220472 0.838220472 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.42E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 167740808 T C GOLIM4 CCDS3204.1 r.? - - intronic 30 0 0 39 2 5.1 34 3 8.8 100 25 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.426 0.426 1 0.607174041 0.607174041 1 1.037401575 1.037401575 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.016387522 1 0.000666058 1 5.04E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 168901894 C A MECOM ENST00000494292 r.? - - intronic 42 0 0 32 1 3.1 23 2 8.7 77 24 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.258941176 0.258941176 1 0.600274336 0.600274336 1 1.294677165 1.294677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.14819814 1 0.00589844 1 2.53E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 169879280 G C PHC3 CCDS46952.1 r.? - - intronic 31 0 0 41 0 0 44 0 0 122 7 5.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.236527559 0.236527559 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.00000317 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 170649765 G A - - - - - - 27 0 0 35 3 8.6 47 4 8.5 116 32 27.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.718352941 0.718352941 1 0.586474926 0.586474926 1 1.145291339 1.145291339 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000725791 1 0.0000939 1 6.02E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 171445707 G A PLD1 CCDS46957.1 r.? - - intronic 27 0 0 34 2 5.9 38 0 0 116 29 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.492823529 0.492823529 1 0 0 1 1.037401575 1.037401575 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.012612579 1 1 1 2.23E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 101076346 T C LASS3 CCDS10384.1 r.? - - intronic 23 0 0 19 0 0 25 4 16 39 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.943952802 0.943952802 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.00000727 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 173857125 T C NLGN1 CCDS3222.1 r.? - - intronic 37 0 0 41 0 0 48 0 0 87 14 16.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.668086614 0.668086614 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.35E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 178192381 A G KCNMB2 ENST00000437510 r.? - - intronic 42 0 0 44 0 0 44 0 0 80 11 13.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.572645669 0.572645669 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 3.73E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 179400846 G T USP13 CCDS3235.1 r.? - - intronic 32 0 0 33 0 0 41 0 0 98 22 22.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.929511811 0.929511811 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 7.37E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 179856240 C G - - - - - - 37 0 0 35 0 0 41 0 0 76 20 26.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 1.091346457 1.091346457 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 7.96E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 179917662 C T - - - - - - 31 0 0 33 2 6.1 38 3 7.9 85 14 16.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.509529412 0.509529412 1 0.545076696 0.545076696 1 0.684685039 0.684685039 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011909843 1 0.000925091 1 1.66E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 1309301 C G TPSD1 CCDS10432.1 r.? - - downstream 29 0 0 21 1 4.8 2 0 0 54 20 37 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.352941176 0.352941176 1 0 NA 0 1.441360711 0.825539003 1.74596319 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.099912572 1 1 1 2.61E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 184067208 G A FAM131A CCDS3262.1 r.? - - downstream 31 0 0 30 2 6.7 31 4 12.9 79 24 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.559647059 0.559647059 1 0.890061947 0.890061947 1 1.261480315 1.261480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009909649 1 0.0000177 1 5.2E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 185145078 G A MAP3K13 CCDS3270.1 r.? - - intronic 33 0 0 50 0 0 34 0 0 105 20 19 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.788425197 0.788425197 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 186116887 G A - - - - - - 28 0 0 38 0 0 38 4 10.5 74 14 18.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.724469027 0.724469027 1 0.784275591 0.784275591 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 0.0000403 1 2.1E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 186523427 A G RFC4 CCDS3283.1 r.? - - intronic 28 0 0 41 3 7.3 31 3 9.7 101 19 18.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.609764706 0.609764706 1 0.669271386 0.669271386 1 0.780125984 0.780125984 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001155993 1 0.000505952 1 2.1E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 187995437 C G LPP CCDS3291.1 r.? - - intronic 33 0 0 44 0 0 48 0 0 88 8 9.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.377614173 0.377614173 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 1.76E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 188490585 G A LPP CCDS3291.1 r.? - - intronic 33 0 0 49 4 8.2 21 2 9.5 81 24 29.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.684941176 0.684941176 1 0.655471976 0.655471976 1 1.228283465 1.228283465 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000110643 1 0.004928472 1 1.04E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 189291580 C T - - - - - - 32 0 0 49 0 0 20 0 0 102 21 20.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.854818898 0.854818898 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.05E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 189362971 A T TP63 CCDS3293.1 r.? - - intronic 35 0 0 44 0 0 53 0 0 88 20 22.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.94196063 0.94196063 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.12E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 191294661 C G - - - - - - 31 0 0 42 1 2.4 46 1 2.2 103 17 16.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.200470588 0.200470588 1 0.15179351 0.15179351 1 0.684685039 0.684685039 1 NA NA 1 NA NA 1 NA NA 1 5 NA 1 1 0.189842622 1 0.205924651 1 5.84E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 191770372 G T - - - - - - 36 0 0 35 3 8.6 26 1 3.8 80 16 20 0 0 NA 0 0 NA 2 0 0 1 0 0 NA TRUE FALSE 0.718352941 0.718352941 1 0.262188791 0.262188791 1 0.82992126 0.82992126 1 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 0.000725791 1 0.122190858 1 3.04E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 191994245 A T FGF12 CCDS3301.1 r.? - - intronic 38 0 0 38 0 0 40 0 0 107 7 6.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.269724409 0.269724409 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.00000132 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 193968272 G T - - - - - - 25 0 0 32 3 9.4 37 5 13.5 96 23 24 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.785176471 0.785176471 1 0.931460177 0.931460177 1 0.995905512 0.995905512 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000556213 1 0.00000119 1 7.21E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 32112077 T A - - - - - - 17 0 0 12 0 0 15 3 20 22 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.179941003 1.179941003 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 3 NA 1 1 1 1 0.0000544 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 3 196402666 C T PIGX ENST00000426755 r.? - - intronic 16 0 0 30 3 10 1 0 0 28 9 32.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.835294118 0.835294118 1 0 0 1 1.332023622 1.332023622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000458697 1 1 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 32234295 G C - - - - - - 10 0 0 9 1 11.1 4 0 0 17 4 23.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0 0 1 0.74015748 0.74015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.044110422 1 1 1 0.00000141 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 53398 G C - - - - - - 161 0 0 99 0 0 11 0 0 158 22 13.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 1 1 1 1 5.6E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 1603303 C T - - - - - - 23 0 0 18 1 5.6 0 0 NA 32 17 53.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.355764706 0.355764706 1 NA NA 1 1.141440945 1.141440945 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 0.086275114 1 1 1 4.02E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 1697040 G C SLBP CCDS3350.1 r.? - - intronic 32 0 0 26 2 7.7 18 2 11.1 46 21 45.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.489176471 0.489176471 1 0.543867257 0.543867257 1 0.982370079 0.982370079 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.007502227 1 0.003626632 1 2.94E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 19218496 G C - - - - - - 42 0 0 31 0 0 43 0 0 38 20 52.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 1.130692913 1.130692913 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.94E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 22641822 C T - - - - - - 23 0 0 27 0 0 17 0 0 32 10 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.670677165 0.670677165 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 31203834 C A - - - - - - 37 0 0 19 3 15.8 17 1 5.9 28 18 64.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.003764706 1.003764706 1 0.289082596 0.289082596 1 1.38219685 1.38219685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000114071 1 0.081683532 1 4.77E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 31427077 C G - - - - - - 23 0 0 24 1 4.2 24 3 12.5 40 14 35 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.266823529 0.266823529 1 0.612463127 0.612463127 1 0.752362205 0.752362205 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.113346489 1 0.000233853 1 1.25E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 32785075 A T - - - - - - 29 0 0 35 0 0 39 0 0 40 7 17.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.376181102 0.376181102 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 33042442 C A - - - - - - 14 0 0 14 1 7.1 10 1 10 25 6 24 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.553282357 0.553282357 1 0.589970501 0.589970501 1 0.755905512 0.755905512 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.067769881 1 0.04888987 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 34845513 G C - - - - - - 30 0 0 35 0 0 30 0 0 45 18 40 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.85984252 0.85984252 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 5.76E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 35026550 C T - - - - - - 29 0 0 27 3 11.1 21 2 9.5 38 18 47.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.705176471 0.705176471 1 0.465471976 0.465471976 1 1.018913386 1.018913386 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000334187 1 0.004928472 1 1.16E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 35716105 G C - - - - - - 30 0 0 24 0 0 31 0 0 51 21 41.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.885637795 0.885637795 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 4.73E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 46182157 G A - - - - - - 30 0 0 22 4 18.2 22 3 13.6 37 15 40.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.156235294 1.156235294 1 0.666359882 0.666359882 1 0.870590551 0.870590551 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000425 1 0.000179267 1 2.58E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 46378429 A T GABRA2 CCDS3471.1 r.? - - intronic 32 0 0 16 0 0 25 0 0 31 7 22.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.485811024 0.485811024 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 47304249 G A GABRB1 CCDS3474.1 r.? - - intronic 30 0 0 32 3 9.4 34 3 8.8 59 8 13.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.691176471 0.691176471 1 0.519174041 0.519174041 1 0.409376987 0.409376987 1 NA NA 1 NA NA 1 NA NA 0 5 NA 1 1 0.000556213 1 0.000666058 1 6.9E-10 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 49096148 A G - - - - - - 13 0 0 10 0 0 19 0 0 25 3 12 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.361214988 0.419764299 0.860518605 NA NA 1 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 0.00026475 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 54191837 C A SCFD2 CCDS33984.1 r.? - - intronic 32 0 0 35 0 0 35 0 0 54 5 9.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.199913386 0.199913386 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.00000806 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 56200544 C G - - - - - - 26 0 0 26 0 0 34 0 0 58 8 13.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.296645669 0.296645669 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 5.99E-10 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 50336220 C T ADCY7 CCDS10741.1 r.? - - intronic 20 0 0 18 0 0 4 0 0 38 7 18.4 102 1 1 6 1 16.7 7 0 0 1 11 1 9.1 FALSE FALSE 0 0 1 0 NA 0 0.579527559 0.579527559 1 1.301382446 1.301382446 1 0 NA 0 0.286614173 0.286614173 1 NA NA 1 0.400272124 1 0.029627491 1 1 8.61E-10 0.05364542 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 56590543 C G - - - - - - 28 0 0 23 0 0 21 0 0 58 6 10.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.221409449 0.221409449 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.000000506 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 60009802 G A - - - - - - 25 0 0 23 1 4.3 32 2 6.2 38 20 52.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.273176471 0.273176471 1 0.303781711 0.303781711 1 1.130692913 1.130692913 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.108890944 1 0.011224977 1 2.94E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 60009803 C A - - - - - - 23 0 0 24 1 4.2 32 2 6.2 37 19 51.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.266823529 0.266823529 1 0.303781711 0.303781711 1 1.104897638 1.104897638 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.113346489 1 0.011224977 1 3.09E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 60023124 T A - - - - - - 38 1 2.6 21 4 19 30 5 16.7 43 19 44.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.207058824 1.207058824 1 0.818250737 0.818250737 1 0.950125984 0.950125984 1 NA NA 1 NA NA 1 NA NA 1 9 NA 0.173434892 1 0.00000349 1 0.000000401 1 1.36E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 63498782 T C - - - - - - 29 0 0 30 0 0 35 4 11.4 51 16 31.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.672566372 0.672566372 1 0.988976378 0.988976378 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 0.0000289 1 9.28E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 66712910 A G - - - - - - 29 0 0 22 2 9.1 35 5 14.3 49 12 24.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.669117647 0.669117647 1 0.843657817 0.843657817 1 0.771653543 0.771653543 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.005403392 1 0.000000895 1 1.9E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 68743913 G A TMPRSS11D CCDS3518.1 r.? - - intronic 31 0 0 33 3 9.1 38 2 5.3 75 24 32 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.669117647 0.669117647 1 0.312684366 0.312684366 1 1.007874016 1.007874016 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.000609557 1 0.015598339 1 1.2E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 69305495 C G - - - - - - 28 0 0 33 0 0 29 0 0 53 13 24.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.771653543 0.771653543 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 8.53E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 70412453 A C - - - - - - 41 0 0 35 8 22.9 45 9 20 77 28 36.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.683823529 1.683823529 1 1.179941003 1.179941003 1 1.146456693 1.146456693 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 8.15E-12 1 1.47E-12 1 2.3E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 71977098 G A - - - - - - 23 0 0 36 2 5.6 22 3 13.6 65 24 36.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.411764706 0.411764706 1 0.802359882 0.802359882 1 1.162204724 1.162204724 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.014070883 1 0.000179267 1 1.94E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 74396367 G C - - - - - - 20 0 0 31 0 0 24 0 0 53 10 18.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.595275591 0.595275591 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.57E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 13 112915550 G A AL162499.3 ENST00000503344 r.? - - intronic 22 0 0 26 2 7.7 6 0 0 54 14 25.9 120 0 0 66 9 13.6 145 20 13.8 5.32E-17 163 40 24.5 TRUE TRUE 0.643176471 0.643176471 1 0 0 1 1.074748031 1.074748031 1 1.136 1.136 1 0.952159292 0.952159292 1 1.016653543 1.016653543 1 9 12 1 1 0.007502227 5.59E-11 1 9.23E-23 1.64E-20 1.01E-54 YES 1_1 0_1 1_1 somatic custom.pulldown.HiSeq PD9777b 4 80568632 G A - - - - - - 38 0 0 23 3 13 44 4 9.1 61 21 34.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.955882353 0.955882353 1 0.536873156 0.536873156 1 1.083464567 1.083464567 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000205387 1 0.0000723 1 4.8E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 87150168 A T MAPK10 CCDS3612.1 r.? - - intronic 32 0 0 22 0 0 45 0 0 63 16 25.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.8 0.8 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 4.48E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 91941541 C T FAM190A CCDS47099.1 r.? - - intronic 35 0 0 26 2 7.7 13 2 15.4 54 16 29.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.566176471 0.566176471 1 0.908554572 0.908554572 1 0.932283465 0.932283465 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.007502227 1 0.001879825 1 2.69E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 93424514 T C GRID2 CCDS3637.1 r.? - - intronic 35 0 0 27 3 11.1 35 2 5.7 53 15 28.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.279283186 0.279283186 1 0.891338583 0.891338583 1 NA NA 1 NA NA 0 NA NA 1 6 NA 1 1 0.000334187 1 0.013332991 1 1.6E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 93639053 T A GRID2 CCDS3637.1 r.? - - intronic 29 0 0 27 0 0 40 0 0 51 5 9.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.210661417 0.210661417 1 NA NA 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 1 1 0.00000606 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 100835417 G T DNAJB14 CCDS34035.1 r.? - - intronic 26 0 0 25 0 0 43 0 0 47 8 17 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.365433071 0.365433071 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 102957319 A G BANK1 CCDS34038.1 r.? - - intronic 27 0 0 27 0 0 35 0 0 41 11 26.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.576094488 0.576094488 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 105208860 G T - - - - - - 33 0 0 36 0 0 28 0 0 32 5 15.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.335338583 0.335338583 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.000000562 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 126059628 T A - - - - - - 35 1 2.9 32 3 9.4 31 7 22.6 39 17 43.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.597176471 0.597176471 1 1.107333333 1.107333333 1 0.937228346 0.937228346 1 NA NA 1 NA NA 1 NA NA 1 9 NA 0.16091139 1 0.000556213 1 1.85E-10 1 3.51E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 127835164 G C - - - - - - 29 0 0 24 0 0 39 0 0 53 5 9.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.202062992 0.202062992 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.00000734 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 142165855 G C ENSG00000230981 ENST00000438406 r.? - - intronic 31 0 0 19 1 5.3 25 0 0 60 28 46.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.336705882 0.336705882 1 0 0 1 1.003866142 1.003866142 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.090843738 1 1 1 3.31E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 161295279 C T - - - - - - 26 0 0 28 0 0 31 0 0 46 6 13 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.279448819 0.279448819 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.000000123 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 177196296 C A ASB5 ENST00000505299 r.? - - intronic 33 0 0 33 2 6.1 27 3 11.1 40 21 52.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.387529412 0.387529412 1 0.543867257 0.543867257 1 1.128543307 1.128543307 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011909843 1 0.000334187 1 5.72E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 180349978 T C - - - - - - 35 0 0 24 3 12.5 35 3 8.6 40 20 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.794117647 0.794117647 1 0.421374631 0.421374631 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000233853 1 0.000725791 1 1.19E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 4 184607099 C T C4orf41 CCDS34112.1 r.? - - intronic 25 0 0 25 2 8 23 3 13 45 14 31.1 0 0 NA 0 0 NA 2 0 0 1 0 0 NA TRUE FALSE 0.508235294 0.508235294 1 0.636961652 0.636961652 1 0.668527559 0.668527559 1 NA NA 1 0 0 1 NA NA 1 9 NA 1 1 0.006948068 1 0.000205387 1 8.81E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 1938654 C T - - - - - - 26 0 0 49 0 0 19 0 0 86 14 16.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.676385827 0.676385827 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 1.98E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 8125157 C A - - - - - - 25 0 0 39 0 0 26 0 0 67 12 17.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.742779528 0.742779528 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 1.14E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 8548297 C A - - - - - - 28 0 0 32 4 12.5 33 2 6.1 76 33 43.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.956556547 0.956556547 1 0.375226481 0.375226481 1 1.800929134 0.900464567 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000201 1 0.011909843 1 3.39E-55 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 10831015 T C - - - - - - 36 0 0 28 2 7.1 34 2 5.9 71 22 31 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.543324119 0.543324119 1 0.362923973 0.362923973 1 1.286377953 1.286377953 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.008668191 1 0.012612579 1 2.34E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 62961708 C A - - - - - - 28 0 0 42 6 14.3 35 7 20 68 23 33.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.114357423 1.114357423 1 1.093567826 1.093567826 1 1.367832718 1.367832718 1 NA NA 1 NA NA 0 NA NA 0 9 NA 1 1 7.02E-08 1 4.65E-10 1 7.7E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 19099155 A T - - - - - - 24 0 0 35 0 0 46 0 0 77 11 14.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.593393701 0.593393701 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 2.41E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 19277249 G A - - - - - - 25 0 0 41 1 2.4 33 0 0 85 12 14.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.183658857 0.183658857 1 0 NA 0 0.585094488 0.585094488 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.18577148 1 1 1 2.29E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 27225767 T G - - - - - - 18 0 0 39 0 0 18 0 0 56 14 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 NA 0 0 0 1 0.787401575 0.787401575 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 1 1 1 1 2.91E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 27319099 G A - - - - - - 45 0 0 32 0 0 22 0 0 68 15 22.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 NA 0 0 0 1 0.696062992 0.696062992 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 1 1 1 1 1.06E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 29424757 C T - - - - - - 57 0 0 79 0 0 64 0 0 109 17 15.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 NA 0 0 0 1 0.491338583 0.491338583 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 1 1 1 1 1.61E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 36590455 G A - - - - - - 27 0 0 37 0 0 30 0 0 63 7 11.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 NA 0 0 0 1 0.349606299 0.349606299 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 1 1 1 1 3.38E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 38846246 G A OSMR CCDS3928.1 r.146g>a c.? p.? 5'UTR variant 20 0 0 6 0 0 2 0 0 35 13 37.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 NA 0 0 0 1 1.168503937 1.168503937 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 1 1 1 1 1.63E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 44887308 A G - - - - - - 30 0 0 33 0 0 34 0 0 65 6 9.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 NA 0 0 0 1 0.28976378 0.28976378 1 NA NA 0 NA NA 1 NA NA 1 NA NA 1 1 1 1 1 1 0.000001 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 62516712 C A - - - - - - 35 0 0 41 0 0 35 0 0 39 7 17.9 0 0 NA 0 0 NA 0 0 NA 1 1 1 100 TRUE FALSE 0 0 1 0 0 1 0.384779528 0.384779528 1 NA NA 1 NA NA 1 2.149606299 2.149606299 1 1 NA 1 1 1 1 1 1 1.04E-09 0.005 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 63234317 G C - - - - - - 27 0 0 44 9 20.5 29 2 6.9 49 24 49 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.302352941 1.302352941 1 0.338079646 0.338079646 1 1.053307087 1.053307087 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.18E-12 1 0.009279585 1 3.34E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 68602791 G C CCDC125 CCDS4000.1 r.? - - intronic 31 0 0 27 1 3.7 40 1 2.5 32 18 56.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.235058824 0.235058824 1 0.122492625 0.122492625 1 1.20807874 1.20807874 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.126579904 1 0.181679879 1 1.68E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 79936777 G T DHFRP1 CCDS47240.1 r.? - - intronic 38 0 0 24 0 0 33 0 0 42 17 40.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.870590551 0.870590551 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.73E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 84951709 C T - - - - - - 19 0 0 28 0 0 29 0 0 56 10 17.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.384779528 0.384779528 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 2.82E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 86623395 C A RASA1 CCDS47243.1 r.? - - intronic 31 0 0 26 0 0 26 0 0 42 6 14.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.307393701 0.307393701 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 91604044 A G - - - - - - 32 0 0 26 3 11.5 29 3 10.3 36 16 44.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.730588235 0.730588235 1 0.504669617 0.504669617 1 0.954425197 0.954425197 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000298167 1 0.000414371 1 1.01E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 116974198 C T - - - - - - 39 0 0 36 0 0 37 0 0 49 6 12.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.262251969 0.262251969 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.000000182 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 118080499 G C - - - - - - 20 0 0 30 3 10 29 4 13.8 26 12 46.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.635294118 0.635294118 1 0.676159292 0.676159292 1 0.99311811 0.99311811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000458697 1 0.0000134 1 2.21E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 230168 C T - - - - - - 24 0 0 21 1 4.8 7 1 14.3 48 9 18.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.304941176 0.304941176 1 0.733185101 0.733185101 1 0.404125984 0.404125984 1 NA NA 1 NA NA 0 NA NA 1 5 NA 1 1 0.099912572 1 0.034479353 1 2.75E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 137453845 C T NME5 CCDS4197.1 r.? - - intronic 35 0 0 27 0 0 11 0 0 47 7 14.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.320291339 0.320291339 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 144935236 A G - - - - - - 32 0 0 27 2 7.4 21 1 4.8 45 20 44.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.470117647 0.470117647 1 0.235185841 0.235185841 1 0.954425197 0.954425197 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.00807567 1 0.099912572 1 2.68E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 148354802 G A SH3TC2 ENST00000504690 r.? - - intronic 23 0 0 33 2 6.1 28 2 7.1 46 22 47.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.387529412 0.387529412 1 0.347879056 0.347879056 1 1.027511811 1.027511811 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.011909843 1 0.008668191 1 1.68E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 148354803 G A SH3TC2 ENST00000504690 r.? - - intronic 25 0 0 33 2 6.1 30 3 10 46 22 47.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.387529412 0.387529412 1 0.489970501 0.489970501 1 1.027511811 1.027511811 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.011909843 1 0.000458697 1 1.68E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 156471190 A G HAVCR1 CCDS43392.1 r.? - - intronic 30 0 0 22 3 13.6 27 2 7.4 43 24 55.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.864 0.864 1 0.362578171 0.362578171 1 1.199480315 1.199480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000179267 1 0.00807567 1 4.35E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 161388687 G T - - - - - - 38 0 0 19 1 5.3 27 0 0 53 25 47.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.336705882 0.336705882 1 0 0 1 1.014614173 1.014614173 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.090843738 1 1 1 2.35E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 165839264 C A - - - - - - 37 0 0 30 1 3.3 26 2 7.7 54 27 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.209647059 0.209647059 1 0.377277286 0.377277286 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.139615808 1 0.007502227 1 1.27E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 5 180117150 G A - - - - - - 26 0 0 29 4 13.8 32 3 9.4 51 27 52.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.876705882 0.876705882 1 0.460572271 0.460572271 1 1.137141732 1.137141732 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000134 1 0.000556213 1 1.52E-48 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 5510580 C G FARS2 CCDS4494.1 r.? - - intronic 31 0 0 27 2 7.4 7 0 0 41 13 31.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.544117647 0.544117647 1 0 0 1 0.998425197 0.998425197 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00807567 1 1 1 1.89E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 8157105 C G - - - - - - 20 0 0 31 0 0 33 0 0 80 9 11.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.352755906 0.352755906 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 3.29E-10 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 17229943 G A - - - - - - 27 0 0 31 0 0 26 0 0 58 15 25.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.815748031 0.815748031 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 7.42E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 31662439 G T ACCN1 CCDS42296.1 r.? - - intronic 43 0 0 32 0 0 35 0 0 68 6 8.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.277165354 0.277165354 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 0.00000131 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 21680464 C G - - - - - - 29 0 0 32 0 0 44 1 2.3 63 17 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.135693215 0.135693215 1 0.850393701 0.850393701 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 0.197923942 1 6.22E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 21768316 C T - - - - - - 30 0 0 33 1 3 49 2 4.1 71 17 23.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.220588235 0.220588235 1 0.241887906 0.241887906 1 0.752755906 0.752755906 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.15245715 1 0.025168485 1 6.12E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 25275301 C G LRRC16A ENST00000329474 r.? - - upstream 40 0 0 27 0 0 30 0 0 66 15 22.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.71496063 0.71496063 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 6.45E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 27888712 G A - - - - - - 30 0 0 43 0 0 37 0 0 62 16 25.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.812598425 0.812598425 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 3.36E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 53672467 G A - - - - - - 19 0 0 46 3 6.5 24 5 20.8 99 23 23.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.529340055 0.529340055 1 1.435138643 1.435138643 1 0.940796232 0.940796232 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001615827 1 0.000000123 1 1.58E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 31745105 T A VARS CCDS34412.1 r.? - - downstream 24 0 0 29 0 0 6 0 0 45 9 20 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.62992126 0.62992126 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 32078788 G A TNXB CCDS47407.1 r.? - - upstream 20 0 0 24 5 20.8 17 2 11.8 44 17 38.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.529411765 1.529411765 1 0.696165192 0.696165192 1 1.215748031 1.215748031 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000123 1 0.003234386 1 4.61E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 35962671 G T SLC26A8 CCDS4813.1 r.? - - intronic 30 0 0 39 3 7.7 24 2 8.3 64 22 34.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.566176471 0.566176471 1 0.489675516 0.489675516 1 1.083464567 1.083464567 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000998458 1 0.006413403 1 1.57E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 37067971 C T - - - - - - 21 0 0 25 2 8 33 3 9.1 57 21 36.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.588235294 0.588235294 1 0.536873156 0.536873156 1 1.159055118 1.159055118 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006948068 1 0.000609557 1 8.56E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 38324917 G C BTBD9 CCDS47418.1 r.? - - intronic 27 0 0 35 0 0 42 0 0 72 23 31.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 1.004724409 1.004724409 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 3.67E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 38481664 G C BTBD9 CCDS47418.1 r.? - - intronic 35 0 0 40 0 0 45 0 0 62 5 8.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.25511811 0.25511811 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.000016 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 40909353 G T - - - - - - 38 0 0 37 0 0 32 0 0 89 24 27 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.850393701 0.850393701 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.41E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 41770011 T C USP49 CCDS4861.1 r.? - - intronic 31 0 0 21 3 14.3 27 2 7.4 56 20 35.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 0.436578171 0.436578171 1 1.124409449 1.124409449 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000155401 1 0.00807567 1 6.31E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 42714793 C T KIAA0240 CCDS34451.1 r.? - - intronic 20 0 0 9 2 22.2 2 0 0 42 16 38.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.632352941 1.632352941 1 0 0 1 1.2 1.2 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000879235 1 1 1 2.25E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 43129294 G C PTK7 CCDS4884.1 r.4109g>c c.? p.? 3'UTR variant 29 0 0 15 0 0 20 0 0 62 22 35.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 1.118110236 1.118110236 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 6.75E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 48664054 G A - - - - - - 31 0 0 31 3 9.7 49 6 12.2 85 20 23.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.810235294 0.810235294 1 0.719764012 0.719764012 1 0.74015748 0.74015748 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000505952 1 0.000000182 1 9.82E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 64951957 G A EYS CCDS47445.1 r.? - - intronic 44 0 0 37 0 0 37 0 0 61 6 9.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.308661417 0.308661417 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.000000685 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 65576472 G A EYS CCDS47445.1 r.? - - intronic 31 0 0 31 0 0 45 0 0 60 6 10 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.31496063 0.31496063 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.000000621 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 65605440 G C EYS CCDS47445.1 r.? - - intronic 38 0 0 41 3 7.3 34 3 8.8 61 20 32.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.536764706 0.536764706 1 0.519174041 0.519174041 1 1.033070866 1.033070866 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001155993 1 0.000666058 1 4.89E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 68195173 A T - - - - - - 36 0 0 29 3 10.3 36 3 8.3 74 18 24.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 0.489675516 0.489675516 1 0.765354331 0.765354331 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000414371 1 0.000788827 1 2.13E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 69441366 T C BAI3 CCDS4968.1 r.? - - intronic 30 0 0 29 1 3.4 32 3 9.4 47 19 40.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.25 0.25 1 0.554572271 0.554572271 1 1.272440945 1.272440945 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.135292269 1 0.000556213 1 1.16E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 17 61967174 T A - - - - - - 24 0 0 39 1 2.6 24 3 12.5 66 1 1.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.191176471 0.191176471 1 0.754504978 0.754504978 1 0.047244094 0.047244094 1 NA NA 1 NA NA 0 NA NA 1 3 NA 1 1 0.177567718 1 0.000233853 1 0.281671117 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 72142406 T A - - - - - - 42 0 0 35 2 5.7 33 2 6.1 62 21 33.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.419117647 0.419117647 1 0.359882006 0.359882006 1 1.067716535 1.067716535 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.013332991 1 0.011909843 1 7.22E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 74534375 T C CD109 CCDS4982.1 r.5468u>c c.? p.? 3'UTR variant 22 0 0 32 0 0 32 0 0 65 17 26.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.82519685 0.82519685 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.14E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 77101139 C G - - - - - - 39 0 0 31 0 0 26 0 0 70 6 8.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.270866142 0.270866142 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.00000156 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 78178710 G C - - - - - - 25 0 0 25 0 0 38 0 0 62 7 11.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.355905512 0.355905512 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 3.02E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 20431741 C T - - - - - - 40 0 0 30 5 16.7 27 7 25.9 47 28 59.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 1.269023599 1.269023599 1 1.281165354 1.281165354 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 6.36E-11 1 2.37E-52 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 85677180 T G - - - - - - 18 0 0 40 0 0 33 0 0 61 5 8.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.258267717 0.258267717 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.0000147 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 86036371 C T - - - - - - 34 0 0 25 2 8 19 2 10.5 61 22 36.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.588235294 0.588235294 1 0.619469027 0.619469027 1 1.137007874 1.137007874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006948068 1 0.004039874 1 4.38E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 87214341 G A - - - - - - 40 0 0 45 3 6.7 36 2 5.6 70 14 20 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.492647059 0.492647059 1 0.330383481 0.330383481 1 0.62992126 0.62992126 1 NA NA 1 NA NA 1 NA NA 1 5 NA 1 1 0.001516071 1 0.014070883 1 9.08E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 93601704 T C - - - - - - 30 0 0 32 2 6.2 49 3 6.1 55 18 32.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.455882353 0.455882353 1 0.359882006 0.359882006 1 1.02992126 1.02992126 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.011224977 1 0.001939399 1 4.61E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 93729170 G A - - - - - - 32 0 0 39 3 7.7 17 3 17.6 51 12 23.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.566176471 0.566176471 1 1.038348083 1.038348083 1 0.74015748 0.74015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000998458 1 0.0000807 1 3.24E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 95847037 C G - - - - - - 27 0 0 32 4 12.5 32 2 6.2 46 13 28.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.919117647 0.919117647 1 0.365781711 0.365781711 1 0.891338583 0.891338583 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000201 1 0.011224977 1 1.07E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 96000397 C T - - - - - - 26 0 0 28 0 0 8 0 0 49 9 18.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.579527559 0.579527559 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 99204034 C T - - - - - - 31 0 0 28 1 3.6 26 3 11.5 41 11 26.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.264705882 0.264705882 1 0.678466077 0.678466077 1 0.844094488 0.844094488 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.130947004 1 0.000298167 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 101280618 G C ASCC3 CCDS5046.1 r.? - - intronic 36 0 0 35 0 0 48 0 0 45 8 17.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.560629921 0.560629921 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 101351845 A G - - - - - - 24 0 0 28 1 3.6 28 3 10.7 66 22 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.264705882 0.264705882 1 0.631268437 0.631268437 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.130947004 1 0.000372895 1 3.52E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 101476801 T G - - - - - - 24 0 0 22 1 4.5 18 1 5.6 43 9 20.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.330882353 0.330882353 1 0.330383481 0.330383481 1 0.658267717 0.658267717 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.104413009 1 0.086275114 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 103581242 C T - - - - - - 33 0 0 43 4 9.3 40 2 5 61 15 24.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.683823529 0.683823529 1 0.294985251 0.294985251 1 0.77480315 0.77480315 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.000066 1 0.017193422 1 1.73E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 116675810 G A DSE CCDS5107.1 r.? - - intronic 28 0 0 23 0 0 35 0 0 70 22 31.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.988976378 0.988976378 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.63E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 67188683 A T DOK6 CCDS32841.1 r.? - - intronic 35 0 0 32 0 0 28 0 0 57 4 7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.150472441 0.150472441 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.000199821 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 120310827 C A - - - - - - 20 0 0 28 0 0 18 0 0 46 6 13 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.409448819 0.409448819 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.000000123 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 123715444 G T TRDN ENST00000334268 r.? - - intronic 35 0 0 45 0 0 31 0 0 85 12 14.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.444094488 0.444094488 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 2.29E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 125707562 A T - - - - - - 25 0 0 70 0 0 110 0 0 298 17 5.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.920527559 0.920527559 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 4.12E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 125779408 G C - - - - - - 32 0 0 91 2 2.2 99 1 1 318 17 5.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.447764706 0.447764706 1 0.213393982 0.213393982 1 0.855929134 0.855929134 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.076482202 1 0.391185491 1 1.16E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 125865434 C A - - - - - - 41 0 0 83 0 0 121 0 0 287 18 6.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 1.017425197 1.017425197 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.69E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 18 76542161 T A - - - - - - 20 0 0 14 1 7.1 0 0 NA 28 4 14.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.451058824 0.451058824 1 NA NA 1 0.307393701 0.307393701 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 0.067769881 1 1 1 0.0000116 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 20196075 G T ZNF90 CCDS46028.1 r.? - - intronic 11 0 0 13 2 15.4 11 0 0 21 5 23.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.286352941 1.286352941 1 0 NA 0 1.020259437 1.020259437 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.001879825 1 1 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 126612719 G C - - - - - - 31 0 0 89 0 0 124 0 0 325 19 5.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.936677165 0.936677165 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.14E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 126742126 C T - - - - - - 30 0 0 80 6 7.5 118 6 5.1 301 16 5.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.526470588 1.526470588 1 1.088309307 1.088309307 1 0.855929134 0.855929134 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000342 1 0.0000319 1 5.77E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 126742127 A T - - - - - - 29 0 0 78 3 3.8 115 1 0.9 296 13 4.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.773411765 0.773411765 1 0.192054584 0.192054584 1 0.710582677 0.710582677 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.007193566 1 0.438106141 1 5.41E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 126849133 A T - - - - - - 34 0 0 91 0 0 129 0 0 317 23 7.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 1.17892126 1.17892126 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.66E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 127199524 G A - - - - - - 23 0 0 99 4 4 130 2 1.5 359 22 6.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.814117647 0.814117647 1 0.320090973 0.320090973 1 0.985125984 0.985125984 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001612681 1 0.138325346 1 3.57E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 127640682 A C ECHDC1 CCDS43504.1 r.? - - intronic 34 0 0 111 2 1.8 125 4 3.2 332 28 8.4 0 0 NA 0 0 NA 0 0 NA 1 1 0 0 TRUE FALSE 0.366352941 0.366352941 1 0.682860742 0.682860742 1 1.356566929 1.356566929 1 NA NA 1 NA NA 1 0 0 1 9 NA 1 1 0.106960682 1 0.003748327 1 3.4E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 127749830 G A - - - - - - 28 0 0 102 1 1 121 1 0.8 341 18 5.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.203529412 0.203529412 1 0.170715185 0.170715185 1 0.855929134 0.855929134 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.400272124 1 0.454753646 1 3.18E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 128518518 C G PTPRK CCDS47473.1 r.? - - intronic 21 0 0 76 0 0 127 0 0 298 18 6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.968976378 0.968976378 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 3.22E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 128547257 C T PTPRK CCDS47473.1 r.? - - intronic 29 0 0 100 2 2 125 4 3.2 353 21 5.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.407058824 0.407058824 1 0.682860742 0.682860742 1 0.952826772 0.952826772 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.089822309 1 0.003748327 1 3.32E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 131457349 A G - - - - - - 34 0 0 35 3 8.6 51 4 7.8 115 23 20 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.890352941 0.890352941 1 0.694176991 0.694176991 1 1.22992126 1.22992126 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000725791 1 0.000129466 1 6.97E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 132154073 T C ENPP1 CCDS5150.2 r.? - - intronic 27 0 0 63 0 0 54 0 0 137 13 9.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.584212598 0.584212598 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 3.67E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 54373157 G C MYADM CCDS12866.1 r.? - - intronic 14 0 0 4 0 0 1 0 0 26 4 15.4 0 0 NA 0 0 NA 1 0 0 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.363154007 0.363154007 1 NA NA 1 0 NA 0 NA NA 1 NA NA 1 1 1 1 1 1 0.00000856 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 133301360 A G - - - - - - 33 0 0 57 4 7 70 4 5.7 169 20 11.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.724705882 0.724705882 1 0.507283186 0.507283186 1 0.725653543 0.725653543 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000199821 1 0.000440508 1 2.16E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 135051889 G A - - - - - - 30 0 0 30 2 6.7 24 3 12.5 124 32 25.8 0 0 NA 0 0 NA 1 1 100 0.01 0 0 NA TRUE FALSE 0.693647059 0.693647059 1 1.112463127 1.112463127 1 1.586598425 0.793299213 2 NA NA 1 8.899705015 8.899705015 1 NA NA 1 9 NA 1 1 0.009909649 1 0.000233853 0.005 6.85E-45 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 139232230 T C REPS1 CCDS47488.1 r.? - - intronic 26 0 0 40 0 0 49 0 0 89 10 11.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.464755906 0.464755906 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 140559933 A C - - - - - - 25 0 0 26 1 3.8 32 2 6.2 85 16 18.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.317411765 0.317411765 1 0.427781711 0.427781711 1 0.780125984 0.780125984 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.122190858 1 0.011224977 1 8.67E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 144822964 C T UTRN CCDS34547.1 r.? - - intronic 34 0 0 36 0 0 45 0 0 83 24 28.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 1.19923622 1.19923622 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.06E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 146004835 G C EPM2A CCDS5206.1 r.? - - intronic 33 0 0 23 0 0 31 0 0 69 19 27.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 1.141141732 1.141141732 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 6.95E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 146124830 C G FBXO30 CCDS5208.1 r.? - - intronic 36 0 0 38 1 2.6 44 4 9.1 89 25 28.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.217176471 0.217176471 1 0.627873156 0.627873156 1 1.16603937 1.16603937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.173434892 1 0.0000723 1 1.84E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 155006669 C T - - - - - - 21 0 0 35 2 5.7 34 3 8.8 78 17 21.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.476117647 0.476117647 1 0.607174041 0.607174041 1 0.904614173 0.904614173 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.013332991 1 0.000666058 1 3.59E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 156889774 T C - - - - - - 29 0 0 31 1 3.2 60 4 6.7 94 15 16 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.267294118 0.267294118 1 0.462280236 0.462280236 1 0.663937008 0.663937008 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.143917729 1 0.000243755 1 1.96E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 159250357 A G - - - - - - 21 0 0 37 3 8.1 26 3 11.5 85 18 21.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.676588235 0.676588235 1 0.793466077 0.793466077 1 0.697407133 0.697407133 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000855237 1 0.000298167 1 3.35E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 9442965 C A PLCB4 CCDS13104.1 r.? - - intronic 38 0 0 34 7 20.6 41 4 9.8 86 24 27.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.676166695 1.676166695 1 0.637658529 0.637658529 1 1.157740157 1.157740157 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.73E-10 1 0.0000546 1 5.49E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 161075252 C T LPA CCDS43523.1 r.? - - intronic 15 0 0 21 3 14.3 25 1 4 50 13 26 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.194470588 1.194470588 1 0.275988201 0.275988201 1 1.078897638 1.078897638 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000155401 1 0.117779757 1 3.65E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 161599105 C T AGPAT4 CCDS5280.1 r.? - - intronic 27 1 3.7 49 4 8.2 27 4 14.8 104 24 23.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.684941176 0.684941176 1 1.021156342 1.021156342 1 0.958559055 0.958559055 1 NA NA 1 NA NA 1 NA NA 1 9 NA 0.126579904 1 0.000110643 1 0.00001 1 9.41E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 161778170 G A PARK2 CCDS5281.1 r.? - - intronic 21 0 0 38 3 7.9 21 1 4.8 72 12 16.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.659882353 0.659882353 1 0.331185841 0.331185841 1 0.692984252 0.692984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000925091 1 0.099912572 1 2.84E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 164037342 G T - - - - - - 24 0 0 27 3 11.1 15 1 6.7 49 23 46.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.927176471 0.927176471 1 0.462280236 0.462280236 1 1.008165354 1.008165354 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000334187 1 0.072431031 1 6.14E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 164229381 G A - - - - - - 26 0 0 32 0 0 25 0 0 48 14 29.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.627685039 0.627685039 1 NA NA 1 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 2.51E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 6 165278958 G C - - - - - - 32 0 0 33 3 9.1 34 2 5.9 52 20 38.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.760117647 0.760117647 1 0.289082596 0.289082596 1 0.827598425 0.827598425 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.000609557 1 0.012612579 1 1.03E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 1855541 G A MAD1L1 CCDS43539.1 r.2880c>u c.? p.? 3'UTR variant 26 0 0 21 3 14.3 3 0 0 36 9 25 122 0 0 6 0 0 14 0 0 1 21 4 19 FALSE FALSE 1.051470588 1.051470588 1 0 NA 0 0.787401575 0.787401575 1 0 0 1 0 NA 0 0.598425197 0.598425197 1 NA NA 1 1 0.000155401 1 1 1 1.63E-13 0.00000349 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 2395077 C T EIF3B CCDS5332.1 r.? - - intronic 27 0 0 9 0 0 1 0 0 34 16 47.1 85 0 0 12 1 8.3 16 2 12.5 0.010932892 3 0 0 FALSE TRUE 0 0 1 0 NA 0 1.483464567 1.483464567 1 0.610294118 0.610294118 1 0.555197762 0.555197762 1 0 0 1 NA 11 1 1 1 0.058377193 1 0.002863359 3.09E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 5291390 C T - - - - - - 31 0 0 26 4 15.4 16 2 12.5 64 20 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.132352941 1.132352941 1 0.737463127 0.737463127 1 0.982677165 0.982677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000856 1 0.002863359 1 1.52E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 18321949 A G HDAC9 ENST00000433709 r.? - - intronic 36 0 0 39 1 2.6 36 1 2.8 68 20 29.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.191176471 0.191176471 1 0.16519174 0.16519174 1 0.925984252 0.925984252 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.177567718 1 0.165106833 1 6.23E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 20283741 T C - - - - - - 26 0 0 37 3 8.1 45 6 13.3 69 17 24.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.595588235 0.595588235 1 0.784660767 0.784660767 1 0.77480315 0.77480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000855237 1 0.000000108 1 3.56E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 21512824 G C SP4 CCDS5373.1 r.? - - intronic 32 0 0 34 1 2.9 32 3 9.4 36 13 36.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.213235294 0.213235294 1 0.554572271 0.554572271 1 1.137007874 1.137007874 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.156694864 1 0.000556213 1 2.53E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 24153453 G A - - - - - - 33 0 0 26 2 7.7 26 4 15.4 66 20 30.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.566176471 0.566176471 1 0.908554572 0.908554572 1 0.954330709 0.954330709 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.007502227 1 0.00000856 1 3.11E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 27256850 C T - - - - - - 24 0 0 26 1 3.8 31 3 9.7 61 26 42.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.279411765 0.279411765 1 0.572271386 0.572271386 1 1.341732283 1.341732283 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.122190858 1 0.000505952 1 1.53E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 31235056 C T AC006978.1 ENST00000507825 r.? - - intronic 30 0 0 32 1 3.1 44 1 2.3 71 22 31 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.227941176 0.227941176 1 0.135693215 0.135693215 1 0.976377953 0.976377953 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.14819814 1 0.197923942 1 2.34E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 33316617 G A BBS9 CCDS43566.1 r.? - - intronic 30 0 0 37 3 8.1 24 2 8.3 73 24 32.9 8 0 0 9 4 44.4 7 1 14.3 0.067934652 2 2 100 TRUE TRUE 0.595588235 0.595588235 1 0.489675516 0.489675516 1 1.036220472 1.036220472 1 3.264705882 3.264705882 1 0.843657817 0.843657817 1 3.149606299 3.149606299 1 9 12 1 1 0.000855237 7.72E-08 0.006413403 0.034479353 5.58E-37 0.000025 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 36392328 C T KIAA0895 CCDS47573.1 r.? - - intronic 22 0 0 27 3 11.1 26 4 15.4 58 20 34.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.908554572 0.908554572 1 1.086614173 1.086614173 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000334187 1 0.00000856 1 1.47E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 37973803 C A EPDR1 CCDS5454.1 r.? - - intronic 30 0 0 34 3 8.8 12 1 8.3 62 19 30.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.647058824 0.647058824 1 0.489675516 0.489675516 1 0.963779528 0.963779528 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000666058 1 0.058377193 1 6.66E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 38381302 G A AC007245.3 ENST00000515771 r.87g>a - - non-coding variant 33 0 0 22 0 0 26 1 3.8 55 21 38.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.224188791 0.224188791 1 1.203149606 1.203149606 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 1 1 0.122190858 1 3.41E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 38701985 C T - - - - - - 30 0 0 33 4 12.1 42 8 19 60 19 31.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.889705882 0.889705882 1 1.120943953 1.120943953 1 0.998425197 0.998425197 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000228 1 3.96E-11 1 3.21E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 44179249 G A GCK CCDS5479.1 r.? - - downstream 35 0 0 25 2 8 6 1 16.7 55 13 23.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.588235294 0.588235294 1 0.985250737 0.985250737 1 0.743307087 0.743307087 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006948068 1 0.029627491 1 1.46E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 44284624 G T CAMK2B CCDS5483.1 r.? - - intronic 29 0 0 23 2 8.7 9 0 0 66 27 40.9 137 0 0 3 2 66.7 14 3 21.4 0.000335142 13 3 23.1 TRUE TRUE 0.639705882 0.639705882 1 0 0 1 1.288188976 1.288188976 1 4.904411765 4.904411765 1 1.262536873 1.262536873 1 0.727559055 0.727559055 1 9 12 1 1 0.00589844 0.0000748 1 0.0000437 1.51E-44 0.0000344 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 27262550 C A - - - - - - 26 0 0 29 1 3.4 43 0 0 71 16 22.5 40 0 0 126 0 0 116 0 0 1 103 28 27.2 TRUE TRUE 0.25 0.25 1 0 0 1 0.708661417 0.708661417 1 0 0 1 0 0 1 0.856692913 0.856692913 1 2 2 1 1 0.135292269 1 1 1 3.77E-22 3.39E-40 YES 0_0 0_0 1_1 somatic custom.pulldown.HiSeq PD9777b 7 49491045 T C - - - - - - 29 0 0 49 3 6.1 31 3 9.7 58 14 24.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.448529412 0.448529412 1 0.572271386 0.572271386 1 0.759055118 0.759055118 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001939399 1 0.000505952 1 5.04E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 50989828 C T - - - - - - 34 0 0 29 2 6.9 24 1 4.2 76 21 27.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.507352941 0.507352941 1 0.247787611 0.247787611 1 0.869291339 0.869291339 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009279585 1 0.113346489 1 1.07E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 13934010 C T SEL1L2 CCDS42852.1 r.? - - intronic 30 0 0 32 3 9.4 39 5 12.8 98 36 36.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.764852764 0.764852764 1 0.832860119 0.832860119 1 1.522905512 0.761452756 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000556213 1 0.00000156 1 8.66E-57 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 52569452 A G - - - - - - 34 0 0 36 3 8.3 49 3 6.1 64 12 18.8 0 0 NA 0 0 NA 0 0 NA 1 1 0 0 TRUE FALSE 0.610294118 0.610294118 1 0.359882006 0.359882006 1 0.592125984 0.592125984 1 NA NA 1 NA NA 1 0 0 1 5 NA 1 1 0.000788827 1 0.001939399 1 6.3E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 53082596 C T - - - - - - 28 0 0 34 4 11.8 20 1 5 47 17 36.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.867647059 0.867647059 1 0.294985251 0.294985251 1 1.14015748 1.14015748 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 0.09538952 1 1.81E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 53275113 G T - - - - - - 34 0 0 30 0 0 34 1 2.9 64 12 18.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.171091445 0.171091445 1 0.592125984 0.592125984 1 NA NA 1 NA NA 1 NA NA 1 5 NA 1 1 1 1 0.156694864 1 6.3E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 56672987 G A - - - - - - 34 0 0 26 1 3.8 10 2 20 40 7 17.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.279411765 0.279411765 1 1.179941003 1.179941003 1 0.551181102 0.551181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.122190858 1 0.001095391 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 57131597 A C - - - - - - 51 0 0 61 3 4.9 59 2 3.4 121 22 18.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.360294118 0.360294118 1 0.200589971 0.200589971 1 0.573228346 0.573228346 1 NA NA 1 NA NA 1 NA NA 1 5 NA 1 1 0.003623631 1 0.035441897 1 1.14E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 57660500 G A - - - - - - 67 0 0 71 1 1.4 66 1 1.5 152 14 9.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.102941176 0.102941176 1 0.088495575 0.088495575 1 0.28976378 0.28976378 1 NA NA 1 NA NA 1 NA NA 1 4 NA 1 1 0.299450652 1 0.281671117 1 6.97E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 61771879 G C - - - - - - 109 0 0 115 2 1.7 130 5 3.8 193 15 7.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.125 0.125 1 0.224188791 0.224188791 1 0.245669291 0.245669291 1 NA NA 1 NA NA 1 NA NA 1 4 NA 1 1 0.113393609 1 0.000532919 1 1.11E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 68376834 A G - - - - - - 32 0 0 33 1 3 28 0 0 64 20 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.220588235 0.220588235 1 0 0 1 0.982677165 0.982677165 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.15245715 1 1 1 1.52E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 69719077 G C AUTS2 CCDS5539.1 r.? - - intronic 32 0 0 33 0 0 34 0 0 84 21 25 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.945461838 0.945461838 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.15E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 70480811 C T - - - - - - 35 0 0 25 1 4 9 1 11.1 58 16 27.6 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 TRUE FALSE 0.294117647 0.294117647 1 0.654867257 0.654867257 1 0.869291339 0.869291339 1 NA NA 1 NA NA 1 0 0 1 9 NA 1 1 0.117779757 1 0.044110422 1 1E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 71044275 G T WBSCR17 CCDS5540.1 r.? - - intronic 29 1 3.4 29 4 13.8 27 6 22.2 64 22 34.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.014705882 1.014705882 1 1.309734513 1.309734513 1 1.083464567 1.083464567 1 NA NA 1 NA NA 1 NA NA 1 9 NA 0.135292269 1 0.0000134 1 4.23E-09 1 1.57E-34 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 74035812 C G - - - - - - 35 0 0 47 3 6.4 23 2 8.7 77 32 41.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.470588235 0.470588235 1 0.513274336 0.513274336 1 1.31023622 1.31023622 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001719595 1 0.00589844 1 8.63E-53 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 15 43481423 C G CCNDBP1 CCDS10092.1 r.518c>g c.276C>G p.V92V silent 23 0 0 26 1 3.8 35 9 25.7 47 15 31.9 138 0 0 135 8 5.9 130 16 12.3 4.14E-13 166 43 25.9 FALSE FALSE 0.241411765 NA 0 NA NA 1 1.004724409 1.004724409 1 0.374823529 0.374823529 1 NA NA 1 0.815748031 0.815748031 1 NA NA 1 1 0.122190858 0.000000492 1.23E-13 1.08E-17 1.97E-23 7.64E-60 YES 0_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 7 77394211 G A RSBN1L CCDS43607.1 r.? - - intronic 23 0 0 25 2 8 22 3 13.6 48 16 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.588235294 0.588235294 1 0.802359882 0.802359882 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006948068 1 0.000179267 1 2.96E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 78443379 T A MAGI2 CCDS5594.1 r.? - - intronic 41 0 0 19 0 0 33 3 9.1 52 19 36.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.536873156 0.536873156 1 1.149606299 1.149606299 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 0.000609557 1 1.24E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 79568817 A G - - - - - - 15 0 0 9 1 11.1 18 3 16.7 36 15 41.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.816176471 0.816176471 1 0.985250737 0.985250737 1 1.313385827 1.313385827 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.044110422 1 0.0000964 1 1.54E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 81909435 A G CACNA2D1 CCDS5598.1 r.? - - intronic 34 0 0 23 0 0 30 0 0 67 18 26.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.847244094 0.847244094 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.83E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 84087934 C T SEMA3A ENST00000424555 r.? - - intronic 36 0 0 24 1 4.2 40 3 7.5 70 23 32.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.308823529 0.308823529 1 0.442477876 0.442477876 1 1.036220472 1.036220472 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.113346489 1 0.001075403 1 1.7E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 47755509 T C STAU1 CCDS13414.1 r.? - - intronic 36 0 0 42 9 21.4 32 8 25 86 43 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.691119115 1.691119115 1 1.34342842 1.34342842 1 2.07480315 1.037401575 2 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 7.51E-13 1 3.69E-12 1 6.11E-75 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 86434432 A G GRM3 CCDS5600.1 r.? - - intronic 25 0 0 35 1 2.9 41 3 7.3 58 22 37.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.213235294 0.213235294 1 0.430678466 0.430678466 1 1.193700787 1.193700787 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.16091139 1 0.001155993 1 1.13E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 89966440 T A GTPBP10 ENST00000450619 r.? - - upstream 19 0 0 0 0 NA 17 2 11.8 15 3 20 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE NA NA 1 0.696165192 0.696165192 1 0.62992126 0.62992126 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 1 1 0.003234386 1 0.0000544 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 90398850 C A CDK14 CCDS5619.1 r.? - - intronic 28 0 0 33 1 3 26 2 7.7 60 18 30 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.220588235 0.220588235 1 0.454277286 0.454277286 1 0.94488189 0.94488189 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.15245715 1 0.007502227 1 2.89E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 91976061 T C ANKIB1 CCDS47639.1 r.? - - intronic 31 0 0 34 0 0 41 0 0 67 15 22.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.705511811 0.705511811 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 8.27E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 92185331 C G FAM133B CCDS47641.1 r.? - - downstream 40 0 0 31 0 0 50 0 0 71 20 28.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.888188976 0.888188976 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.68E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 46712182 C T GTSE1 CCDS14074.2 r.1460c>u c.1305C>T p.C435C silent 23 0 0 19 4 21.1 16 2 12.5 47 13 27.7 73 0 0 53 5 9.4 56 9 16.1 4.96E-09 81 27 33.3 TRUE TRUE 1.551470588 1.551470588 1 0.487463127 0.487463127 1 0.872440945 0.872440945 1 0.691176471 0.691176471 1 0.627852507 0.627852507 1 1.048818898 1.048818898 1 9 11 1 1 0.00000228 0.00000734 0.002863359 1.2E-11 1.47E-19 1.32E-41 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 7 93966169 T C - - - - - - 31 0 0 33 0 0 31 0 0 58 6 10.3 1 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.324409449 0.324409449 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.000000506 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 99003051 C T PDAP1 CCDS5662.1 r.? - - intronic 26 0 0 25 0 0 16 0 0 53 17 32.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 1.011023622 1.011023622 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.08E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 100472828 C T SRRT CCDS34709.1 r.19c>u c.? p.? 5'UTR variant 31 0 0 15 2 13.3 3 1 33.3 55 11 20 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.977941176 0.977941176 1 1.96460177 1.96460177 1 0.82992126 0.82992126 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.002513772 1 0.014925125 1 4.77E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 102915966 C T - - - - - - 37 0 0 33 3 9.1 21 2 9.5 44 18 40.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.669117647 0.669117647 1 0.560471976 0.560471976 1 1.288188976 1.288188976 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000609557 1 0.004928472 1 3.47E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 103995406 G A LHFPL3 ENST00000424859 r.? - - intronic 32 0 0 38 0 0 40 0 0 63 20 31.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.998425197 0.998425197 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.05E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 107039135 G C COG5 CCDS5743.1 r.? - - intronic 38 0 0 30 0 0 26 0 0 79 26 32.9 0 0 NA 0 0 NA 0 0 NA 1 2 0 0 TRUE FALSE 0 0 1 0 0 1 1.036220472 1.036220472 1 NA NA 1 NA NA 1 0 0 1 2 NA 1 1 1 1 1 1 5.99E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 52180789 A T ZNF217 CCDS13443.1 r.? - - downstream 34 0 0 14 1 7.1 32 2 6.2 68 19 27.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.56107223 0.56107223 1 0.333170248 0.333170248 1 1.157740157 1.157740157 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.067769881 1 0.011224977 1 5.06E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 109240233 C T - - - - - - 25 0 0 24 2 8.3 34 3 8.8 72 19 26.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.610294118 0.610294118 1 0.519174041 0.519174041 1 0.831496063 0.831496063 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006413403 1 0.000666058 1 1.75E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 60523045 G A - - - - - - 18 0 0 22 2 9.1 4 1 25 52 9 17.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.719120745 0.719120745 1 1.34342842 1.34342842 1 0.71788189 0.71788189 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.005403392 1 0.019850499 1 5.92E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 61857892 C T - - - - - - 16 0 0 11 0 0 1 0 0 43 6 14 2 0 0 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0 0 1 0 NA 0 0.580944882 0.580944882 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 118262529 G A - - - - - - 23 0 0 27 2 7.4 38 3 7.9 57 16 28.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.544117647 0.544117647 1 0.466076696 0.466076696 1 0.88503937 0.88503937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00807567 1 0.000925091 1 7.28E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 120418761 A C - - - - - - 34 0 0 25 1 4 38 4 10.5 76 25 32.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.294117647 0.294117647 1 0.619469027 0.619469027 1 1.036220472 1.036220472 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.117779757 1 0.0000403 1 1.83E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 120522183 G A - - - - - - 24 0 0 29 3 10.3 17 2 11.8 63 26 41.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 0.696165192 0.696165192 1 1.300787402 1.300787402 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000414371 1 0.003234386 1 4.45E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 131161489 G A MKLN1 CCDS34754.1 r.? - - intronic 36 0 0 34 3 8.8 42 4 9.5 82 25 30.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.647058824 0.647058824 1 0.617672337 0.617672337 1 0.960629921 0.960629921 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000666058 1 0.0000601 1 1.71E-37 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 14 43195406 T A - - - - - - 32 0 0 27 2 7.4 14 0 0 34 19 55.9 150 0 0 375 44 11.7 393 44 11.2 1.43E-31 305 132 43.3 TRUE TRUE 0.470117647 0.470117647 1 0 0 1 1.201629921 1.201629921 1 0.743294118 0.743294118 1 0.548766962 0.548766962 1 0.930779528 0.930779528 1 6 11 1 1 0.00807567 5.53E-45 1 4.51E-44 3.3E-35 1.47E-215 YES 1_1 0_1 1_1 somatic custom.pulldown.HiSeq PD9777b 7 141446849 A T SSBP1 CCDS5866.1 r.? - - intronic 29 0 0 29 0 0 37 7 18.9 77 20 26 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 1.228842859 1.228842859 1 0.818897638 0.818897638 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 7.05E-10 1 1.07E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 142338886 G T - - - - - - 31 0 0 38 1 2.6 42 5 11.9 86 21 24.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.191176471 0.191176471 1 0.773715874 0.773715874 1 0.768503937 0.768503937 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.173434892 1 0.00000228 1 2.01E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 145367257 G A - - - - - - 20 0 0 36 2 5.6 49 3 6.1 78 20 25.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.411764706 0.411764706 1 0.396610658 0.396610658 1 0.806299213 0.806299213 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.014070883 1 0.001939399 1 1.43E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 145367266 G A - - - - - - 22 0 0 39 2 5.1 47 3 6.4 84 24 28.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.375 0.375 1 0.4161161 0.4161161 1 0.900787402 0.900787402 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.016387522 1 0.001719595 1 2.87E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146339959 G T CNTNAP2 CCDS5889.1 r.? - - intronic 20 0 0 29 2 6.9 33 4 12.1 52 11 21.2 0 0 NA 0 0 NA 0 0 NA 1 1 0 0 TRUE FALSE 0.507352941 0.507352941 1 0.786719502 0.786719502 1 0.667716535 0.667716535 1 NA NA 1 NA NA 1 0 0 1 9 NA 1 1 0.009279585 1 0.0000228 1 2.44E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 146339978 G C CNTNAP2 CCDS5889.1 r.? - - intronic 22 0 0 37 2 5.4 41 4 9.8 63 14 22.2 0 0 NA 0 0 NA 0 0 NA 1 1 0 0 TRUE FALSE 0.397058824 0.397058824 1 0.637177779 0.637177779 1 0.699212598 0.699212598 1 NA NA 1 NA NA 1 0 0 1 9 NA 1 1 0.014826063 1 0.0000546 1 1.81E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 24930534 C T - - - - - - 27 0 0 34 4 11.8 3 1 33.3 48 7 14.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.867647059 0.867647059 1 1.96460177 1.96460177 1 0.45984252 0.45984252 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000257 1 0.014925125 1 4.81E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 16 49917217 G A - - - - - - 38 0 0 25 0 0 16 1 6.2 68 21 30.9 115 0 0 54 5 9.3 40 0 0 1 54 19 35.2 FALSE FALSE 0 0 1 0.339006026 NA 0 0.973228346 0.973228346 1 0.724721961 0.724721961 1 0 NA 0 1.108661417 1.108661417 1 NA NA 1 1 1 0.00000806 0.077068876 1 7.15E-32 2.97E-30 YES 0_1 0_0 1_1 somatic custom.pulldown.HiSeq PD9777b 16 51852595 C A - - - - - - 29 0 0 34 0 0 36 3 8.3 53 22 41.5 138 0 0 81 8 9.9 132 18 13.6 2.32E-15 133 38 28.6 TRUE TRUE 0 0 1 0.453830648 0.453830648 1 1.307086614 1.307086614 1 0.771478216 0.771478216 1 0.743626122 0.743626122 1 0.900787402 0.900787402 1 6 11 1 1 1 9.08E-09 0.000788827 1.53E-20 9.5E-37 6.3E-55 YES 0_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 17 47490564 G A PHB CCDS11548.1 r.136c>u c.63C>T p.G21G silent 39 0 0 27 6 22.2 32 3 9.4 68 22 32.4 208 1 0.5 73 13 17.8 92 11 12 2.55E-09 111 33 29.7 TRUE TRUE 1.58750771 1.58750771 1 0.366572271 0.366572271 1 1.020472441 1.020472441 1 1.272866542 1.272866542 1 0.467964602 0.467964602 1 0.935433071 0.935433071 1 9 11 1 0.647466173 4.23E-09 7.97E-17 0.000556213 1.81E-12 7.67E-34 1.43E-48 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 16 86408280 G C - - - - - - 34 0 0 41 3 7.3 31 2 6.5 81 21 25.9 154 1 0.6 55 10 18.2 62 7 11.3 3.04E-06 63 15 23.8 TRUE TRUE 0.568867776 0.568867776 1 0.355409543 0.355409543 1 1.048132171 1.048132171 1 1.418273084 1.418273084 1 0.617865822 0.617865822 1 0.963148482 0.963148482 1 6 12 1 0.537880351 0.001155993 2.33E-13 0.010558179 3.02E-08 4.88E-30 2.97E-21 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 7 146912080 C T CNTNAP2 CCDS5889.1 r.? - - intronic 26 0 0 30 0 0 37 0 0 82 24 29.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.922834646 0.922834646 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.47E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 147911951 G A CNTNAP2 CCDS5889.1 r.? - - intronic 30 0 0 26 1 3.8 9 2 22.2 50 25 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.241411765 0.241411765 1 1.087734513 1.087734513 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.122190858 1 0.000879235 1 3.34E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 149734170 T C - - - - - - 11 0 0 8 2 25 0 0 NA 7 3 42.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.588235294 1.588235294 1 NA NA 1 0.922181102 0.922181102 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 0.000686131 1 1 1 0.00000431 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 152071752 G C BAGE3 CCDS5931.1 r.? - - intronic 21 0 0 22 0 0 26 0 0 51 16 31.4 1 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.674976378 0.674976378 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 9.28E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 154454353 G A DPP6 ENST00000404039 r.? - - intronic 22 0 0 16 0 0 14 2 14.3 26 7 26.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.700657817 0.700657817 1 0.578244094 0.578244094 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 0.002185852 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 29151327 C T - - - - - - 32 0 0 37 5 13.5 36 7 19.4 77 19 24.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.992647059 0.992647059 1 1.144542773 1.144542773 1 0.777952756 0.777952756 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000119 1 5.74E-10 1 7.35E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 155995655 A T - - - - - - 30 0 0 30 2 6.7 7 2 28.6 49 26 53.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.425647059 0.425647059 1 1.401315634 1.401315634 1 1.141440945 1.141440945 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.009909649 1 0.000516315 1 7.78E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 7 158047367 A C PTPRN2 CCDS5949.1 r.? - - intronic 17 0 0 18 1 5.6 7 1 14.3 39 14 35.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.355764706 0.355764706 1 0.700657817 0.700657817 1 0.771708661 0.771708661 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.086275114 1 0.034479353 1 8.19E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 1563545 G A DLGAP2 CCDS47760.1 r.? - - intronic 20 0 0 37 2 5.4 22 2 9.1 42 24 57.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.343058824 0.343058824 1 0.445873156 0.445873156 1 1.227425197 1.227425197 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.014826063 1 0.005403392 1 1.93E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 3693300 C A - - - - - - 45 0 0 25 3 12 23 4 17.4 40 18 45 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.762352941 0.762352941 1 0.852548673 0.852548673 1 0.967322835 0.967322835 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00026475 1 0.00000513 1 3.9E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 4663423 C G - - - - - - 36 0 0 27 0 0 40 0 0 50 12 24 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.515905512 0.515905512 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.49E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 15560508 A T TUSC3 CCDS5993.1 r.? - - intronic 25 0 0 23 0 0 33 0 0 46 18 39.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.840496063 0.840496063 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 9.41E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 20158749 A T LZTS1 CCDS6015.1 r.? - - intronic 21 0 0 34 0 0 18 0 0 49 12 24.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.526653543 0.526653543 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.9E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 23786861 G A - - - - - - 31 0 0 22 3 13.6 41 1 2.4 46 23 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.864 0.864 1 0.11759292 0.11759292 1 1.07480315 1.07480315 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.000179267 1 0.18577148 1 8.79E-41 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 33208004 G A - - - - - - 40 0 0 29 5 17.2 25 2 8 69 23 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.264705882 1.264705882 1 0.471976401 0.471976401 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000336 1 0.006948068 1 1.15E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 43556851 T C - - - - - - 36 0 0 32 0 0 44 0 0 99 22 22.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.90238315 0.90238315 1 NA NA 1 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 9.43E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 48309988 G A KIAA0146 CCDS43737.1 r.? - - intronic 35 0 0 34 2 5.9 23 3 13 80 19 23.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.492823529 0.492823529 1 0.896961652 0.896961652 1 0.967419773 0.967419773 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.012612579 1 0.000205387 1 1.65E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 47801992 G A PCNT CCDS33592.1 r.? - - intronic 17 0 0 16 3 18.8 14 5 35.7 34 16 47.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.382352941 1.382352941 1 1.546349477 1.546349477 1 1.483464567 1.483464567 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000667 1 6.03E-09 1 3.09E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 50247729 G C - - - - - - 31 0 0 44 2 4.5 38 1 2.6 83 17 20.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.375882353 0.375882353 1 0.17939233 0.17939233 1 0.833281738 0.833281738 1 NA NA 1 NA NA 1 NA NA 0 6 NA 1 1 0.020580492 1 0.173434892 1 1.14E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 50315617 G A - - - - - - 30 0 0 33 3 9.1 32 2 6.2 69 15 21.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.760117647 0.760117647 1 0.427781711 0.427781711 1 0.882059205 0.882059205 1 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.000609557 1 0.011224977 1 1.34E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 50697349 C A - - - - - - 56 0 0 24 1 4.2 43 0 0 85 11 12.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.350823529 0.350823529 1 0 0 1 0.524357776 0.524357776 1 NA NA 1 NA NA 1 NA NA 0 5 NA 1 1 0.113346489 1 1 1 7.42E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 51890300 T C - - - - - - 32 0 0 26 0 0 47 0 0 77 12 15.6 1 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.634107078 0.692874879 0.915182665 NA NA 1 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 6.64E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 51890307 A G - - - - - - 30 0 0 24 0 0 43 0 0 77 12 15.6 1 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.634107078 0.692874879 0.915182665 NA NA 1 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 6.64E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 59372786 G C - - - - - - 39 0 0 51 1 2 16 0 0 89 18 20.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.187058824 0.187058824 1 0 NA 0 1.040220472 1.040220472 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.225579006 1 1 1 8.26E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 63610026 C T NKAIN3 ENST00000328472 r.? - - intronic 38 0 0 44 4 9.1 36 2 5.6 87 30 34.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.760117647 0.760117647 1 0.386383481 0.386383481 1 1.477511479 0.738755739 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000723 1 0.014070883 1 1.39E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 20440173 T A - - - - - - 16 0 0 15 3 20 9 1 11.1 22 1 4.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.470588235 1.470588235 1 0.432867257 0.432867257 1 0.141732283 0.141732283 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.0000544 1 0.044110422 1 0.104413009 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 68759651 C T - - - - - - 30 0 0 36 4 11.1 17 2 11.8 70 17 24.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.927176471 0.927176471 1 0.814165192 0.814165192 1 1.040681998 1.040681998 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000324 1 0.003234386 1 4.68E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 69218678 G A - - - - - - 37 0 0 41 7 17.1 47 2 4.3 87 22 25.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.428352941 1.428352941 1 0.296687316 0.296687316 1 1.083508418 1.083508418 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.51E-09 1 0.02328732 1 3.97E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 69932947 A G - - - - - - 14 0 0 28 3 10.7 28 2 7.1 63 10 15.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.893764706 0.893764706 1 0.489879056 0.489879056 1 0.680940073 0.680940073 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000372895 1 0.008668191 1 9.81E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 70207490 C G - - - - - - 31 0 0 35 3 8.6 37 2 5.4 75 26 34.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.718352941 0.718352941 1 0.372584071 0.372584071 1 1.486076763 0.743038381 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000725791 1 0.014826063 1 1.19E-40 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 74278731 G A - - - - - - 37 0 0 43 5 11.6 18 2 11.1 96 29 30.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.968941176 0.968941176 1 0.765867257 0.765867257 1 1.293357874 1.293357874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000257 1 0.003626632 1 4.14E-43 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 76387090 G A HNF4G ENST00000354370 r.? - - intronic 19 0 0 40 0 0 22 0 0 68 7 10.3 0 0 NA 0 0 NA 0 0 NA 1 1 0 0 TRUE FALSE 0 0 1 0 0 1 0.441112123 0.441112123 1 NA NA 1 NA NA 1 0 0 1 1 NA 1 1 1 1 1 1 0.000000058 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 20857614 C T MED15 CCDS33602.1 r.? - - upstream 21 0 0 23 1 4.3 17 0 0 33 9 27.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.316176471 0.316176471 1 0 NA 0 0.85984252 0.85984252 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.108890944 1 1 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 78979066 C A - - - - - - 21 0 0 33 2 6.1 17 1 5.9 69 16 23.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.509529412 0.509529412 1 0.407082596 0.407082596 1 0.993572936 0.993572936 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011909843 1 0.081683532 1 2.27E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 81952965 T C PAG1 CCDS6227.1 r.? - - intronic 22 0 0 45 2 4.4 51 4 7.8 93 26 28 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.367529412 0.367529412 1 0.538176991 0.538176991 1 1.199139751 1.199139751 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.021467209 1 0.000129466 1 8.48E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 83001274 A G - - - - - - 29 0 0 32 1 3.1 55 2 3.6 83 20 24.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.258941176 0.258941176 1 0.248389381 0.248389381 1 1.032116714 1.032116714 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.14819814 1 0.031164417 1 5.78E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 83075204 C A - - - - - - 30 0 0 57 4 7 46 5 10.9 79 16 20.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.584705882 0.584705882 1 0.752067847 0.752067847 1 0.869376319 0.869376319 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000199821 1 0.00000361 1 2.45E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 83873279 A T - - - - - - 36 0 0 34 0 0 53 0 0 82 7 8.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.364024567 0.364024567 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.000000214 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 85865173 A G - - - - - - 48 0 0 77 4 5.2 94 5 5.3 131 11 8.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.434352941 0.434352941 1 0.365684366 0.365684366 1 0.359741925 0.359741925 1 NA NA 1 NA NA 1 NA NA 1 4 NA 1 1 0.000632383 1 0.000118532 1 8.94E-11 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 50719356 G A PLXNB2 CCDS43035.1 r.3951c>u c.3810C>T p.A1270A silent 22 0 0 12 1 8.3 3 1 33.3 29 8 27.6 205 0 0 1 0 0 8 0 0 1 15 0 0 TRUE FALSE 0.610294118 0.610294118 1 1.522943142 1.522943142 1 0.869291339 0.869291339 1 0 0 1 0 NA 0 0 0 1 9 NA 1 1 0.058377193 1 0.014925125 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 88395598 C G CNBD1 ENST00000319712 r.? - - downstream 39 0 0 28 3 10.7 41 3 7.3 77 19 24.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.893764706 0.893764706 1 0.503678466 0.503678466 1 1.057812566 1.057812566 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000372895 1 0.001155993 1 7.35E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 93069492 T A RUNX1T1 CCDS47891.1 r.? - - intronic 42 0 0 58 2 3.4 47 3 6.4 111 32 28.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.318 0.318 1 0.505581121 0.505581121 1 1.483086614 0.741543307 2 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.034352256 1 0.001719595 1 1.19E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 98992917 C G MATN2 ENST00000254898 r.? - - intronic 40 0 0 40 3 7.5 34 3 8.8 102 14 13.7 0 0 NA 2 0 0 0 0 NA 1 0 0 NA TRUE FALSE 0.701470588 0.701470588 1 0.695174041 0.695174041 1 0.705496063 0.705496063 1 0 0 1 NA NA 1 NA NA 1 9 NA 1 1 0.001075403 1 0.000666058 1 2.41E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 98995196 C G MATN2 ENST00000254898 r.? - - intronic 26 0 0 52 3 5.8 45 4 8.9 118 21 17.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.542470588 0.542470588 1 0.703073746 0.703073746 1 0.916629921 0.916629921 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.002300591 1 0.0000791 1 2.86E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 34582310 C A - - - - - - 43 0 0 41 2 4.9 39 0 0 63 29 46 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.360294118 0.360294118 1 0 NA 0 1.448818898 1.448818898 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.018015855 1 1 1 1.2E-49 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 43619487 A G SCUBE1 CCDS14048.1 r.? - - intronic 31 0 0 30 3 10 7 2 28.6 58 22 37.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.735294118 0.735294118 1 1.115315634 1.115315634 1 1.193700787 1.193700787 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000458697 1 0.000516315 1 1.13E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 100140602 A T VPS13B CCDS6280.1 r.? - - intronic 22 0 0 21 2 9.5 20 2 10 46 10 21.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.888529412 0.888529412 1 0.789970501 0.789970501 1 1.117464567 1.117464567 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.004928472 1 0.004473894 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 19964353 T A CXorf23 CCDS14194.2 r.? - - intronic 26 0 0 18 3 16.7 13 0 0 38 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.989013169 0.989013169 1 0 0 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.0000964 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 101574058 C T ANKRD46 CCDS6287.1 r.? - - upstream 39 0 0 43 4 9.3 45 5 11.1 143 32 22.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.869823529 0.869823529 1 0.876867257 0.876867257 1 1.153511811 1.153511811 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000066 1 0.00000323 1 1.13E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 102810869 G A NCALD CCDS6292.1 r.? - - intronic 33 0 0 38 4 10.5 62 8 12.9 114 21 18.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.982058824 0.982058824 1 1.019061947 1.019061947 1 0.947527559 0.947527559 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000403 1 1.04E-09 1 1.32E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 104923712 A G RIMS2 ENST00000507740 r.? - - intronic 28 0 0 44 0 0 46 3 6.5 84 11 13.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.513480826 0.513480826 1 0.674598425 0.674598425 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 1 1 0.001615827 1 6.49E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 19964374 T A CXorf23 CCDS14194.2 r.? - - intronic 27 0 0 20 3 15 16 0 0 36 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.888335182 0.888335182 1 0 0 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.0001337 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 106966058 C T - - - - - - 27 0 0 34 3 8.8 35 4 11.4 90 19 21.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.823058824 0.823058824 1 0.900566372 0.900566372 1 1.086566929 1.086566929 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000666058 1 0.0000289 1 1.95E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 108855256 C T - - - - - - 32 0 0 42 2 4.8 27 0 0 102 13 12.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.448941176 0.448941176 1 0 0 1 0.654 0.654 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.018854633 1 1 1 7.55E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 109468359 G A TTC35 CCDS6309.1 r.? - - intronic 36 0 0 45 2 4.4 34 3 8.8 93 19 20.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.411529412 0.411529412 1 0.695174041 0.695174041 1 1.050519685 1.050519685 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.021467209 1 0.000666058 1 3.86E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 110505999 G C PKHD1L1 CCDS47911.1 r.? - - intronic 37 0 0 45 0 0 57 0 0 106 9 8.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.437716535 0.437716535 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 4.15E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 111665884 T A - - - - - - 40 0 0 27 2 7.4 40 1 2.5 102 17 16.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.692117647 0.692117647 1 0.197492625 0.197492625 1 0.859984252 0.859984252 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.00807567 1 0.181679879 1 4.9E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 112567488 A T - - - - - - 36 0 0 32 0 0 32 0 0 93 9 9.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.499511811 0.499511811 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.29E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 112968152 G A - - - - - - 33 0 0 38 1 2.6 54 0 0 111 14 12.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.243176471 0.243176471 1 0 0 1 0.648850394 0.648850394 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 0.173434892 1 1 1 8.15E-16 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 112997767 G A - - - - - - 31 0 0 31 1 3.2 28 1 3.6 109 21 19.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.299294118 0.299294118 1 0.284389381 0.284389381 1 0.993874016 0.993874016 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.143917729 1 0.130947004 1 4.77E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 113434453 T A CSMD3 CCDS6315.1 r.? - - intronic 35 0 0 39 4 10.3 54 3 5.6 94 14 14.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.963352941 0.963352941 1 0.442383481 0.442383481 1 0.767291339 0.767291339 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000447 1 0.00256299 1 7.32E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 114791426 T C - - - - - - 29 0 0 43 3 7 40 0 0 102 23 22.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.654705882 0.654705882 1 0 0 1 1.158661417 1.158661417 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.001328364 1 1 1 3.39E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 115228796 G A - - - - - - 26 0 0 45 1 2.2 17 2 11.8 98 24 24.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.205764706 0.205764706 1 0.932165192 0.932165192 1 1.261653543 1.261653543 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.201934322 1 0.003234386 1 1.92E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 117143044 G T AF130342.1 ENST00000505156 r.? - - intronic 26 0 0 37 4 10.8 50 4 8 126 22 17.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.010117647 1.010117647 1 0.631976401 0.631976401 1 0.901181102 0.901181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000362 1 0.000119787 1 2.97E-27 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 119489075 G C SAMD12 CCDS47913.1 r.? - - intronic 26 0 0 38 4 10.5 46 2 4.3 120 24 20 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.982058824 0.982058824 1 0.339687316 0.339687316 1 1.02992126 1.02992126 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000403 1 0.022369545 1 4.08E-31 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 77431997 T A - - - - - - 36 0 0 29 7 24.1 22 6 27.3 49 24 49 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.473143043 1.473143043 1 1.337619469 1.337619469 1 0.991668363 0.991668363 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1.11E-10 1 1.09E-09 1 3.34E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 122736549 C T - - - - - - 26 0 0 46 3 6.5 28 3 10.7 82 14 17.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.607941176 0.607941176 1 0.845268437 0.845268437 1 0.880582677 0.880582677 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.001615827 1 0.000372895 1 9.77E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 125892567 G C - - - - - - 33 0 0 31 0 0 26 0 0 99 6 6.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.314125984 0.314125984 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.0000118 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 126146189 G T NSMCE2 CCDS6356.1 r.? - - intronic 19 0 0 28 1 3.6 40 3 7.5 97 17 17.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.336705882 0.336705882 1 0.592477876 0.592477876 1 0.901181102 0.901181102 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.130947004 1 0.001075403 1 1.97E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 128337027 A G AC018714.1 ENST00000502082 r.? - - intronic 35 0 0 40 2 5 42 4 9.5 99 20 20.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.517647059 0.517647059 1 0.716169439 0.716169439 1 0.838220472 0.838220472 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.017193422 1 0.0000601 1 2.81E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 129739191 C G - - - - - - 16 0 0 54 4 7.4 43 10 23.3 79 17 21.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.766117647 0.766117647 1 1.756499783 0.878249891 2 0.892165354 0.892165354 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000161898 1 1.61E-14 1 4.55E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 131228283 A G ASAP1 CCDS6362.1 r.? - - intronic 32 0 0 34 3 8.8 35 2 5.7 84 10 11.9 0 0 NA 1 0 0 0 0 NA 1 0 0 NA TRUE FALSE 0.911058824 0.911058824 1 0.429701664 0.429701664 1 0.49380315 0.49380315 1 0 0 1 NA NA 1 NA NA 1 9 NA 1 1 0.000666058 1 0.013332991 1 1.93E-11 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 80238370 A C - - - - - - 25 0 0 25 4 16 9 0 0 28 0 0 0 0 NA 0 0 NA 2 0 0 1 2 0 0 TRUE FALSE 0.978020277 0.978020277 1 0 0 1 0 0 1 NA NA 1 0 0 1 0 0 1 8 NA 1 1 0.00000727 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 132109864 G T - - - - - - 31 0 0 39 0 0 51 0 0 94 21 22.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.925362205 0.925362205 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.6E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 136036655 C T - - - - - - 34 0 0 49 1 2 46 2 4.3 104 12 11.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.19805826 0.19805826 1 0.369102594 0.369102594 1 0.592204724 0.592204724 1 NA NA 1 NA NA 1 NA NA 1 5 NA 1 1 0.217776325 1 0.022369545 1 2.76E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 137570541 C T - - - - - - 41 0 0 48 4 8.3 44 2 4.5 117 27 23.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.821941779 0.821941779 1 0.386270157 0.386270157 1 1.189559055 1.189559055 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000102016 1 0.020580492 1 1.18E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 137581527 C T - - - - - - 27 0 0 46 2 4.3 66 3 4.5 98 18 18.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.425825259 0.425825259 1 0.386270157 0.386270157 1 0.947527559 0.947527559 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.022369545 1 0.004522888 1 5.37E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 138062642 A T - - - - - - 42 0 0 54 2 3.7 62 1 1.6 97 19 19.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.366407781 0.366407781 1 0.1373405 0.1373405 1 1.009322835 1.009322835 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.030129377 1 0.267123145 1 9.19E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 138340079 A T - - - - - - 30 0 0 46 0 0 59 0 0 115 18 15.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.808488189 0.808488189 1 NA NA 1 NA NA 0 NA NA 1 2 NA 1 1 1 1 1 1 1.14E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 138474642 A C - - - - - - 31 0 0 37 3 8.1 49 3 6.1 92 18 19.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.802135953 0.802135953 1 0.523610657 0.523610657 1 1.009322835 1.009322835 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000855237 1 0.001939399 1 1.58E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 138628449 T C - - - - - - 29 0 0 36 2 5.6 33 3 9.1 99 19 19.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.554563128 0.554563128 1 0.781124095 0.781124095 1 0.988724409 0.988724409 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.014070883 1 0.000609557 1 1.4E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 138900194 G C - - - - - - 20 0 0 46 0 0 60 0 0 129 9 7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.360472441 0.360472441 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 2.33E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 139630836 G C COL22A1 CCDS6376.1 r.? - - intronic 27 0 0 38 3 7.9 54 1 1.9 127 16 12.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.782330127 0.782330127 1 0.163091844 0.163091844 1 0.648850394 0.648850394 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.000925091 1 0.237137336 1 7.39E-18 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 82375801 C G - - - - - - 31 0 0 31 8 25.8 32 10 31.2 30 14 46.7 2 0 0 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.577057697 1.577057697 1 1.528707965 1.528707965 1 0.945120664 0.945120664 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 2.78E-12 1 5.7E-16 1 8.24E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 143474613 G A TSNARE1 CCDS6384.1 r.? - - intronic 36 0 0 39 3 7.7 7 1 14.3 116 23 19.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.740780962 0.740780962 1 0.749682937 0.749682937 1 1.217622047 1.217622047 1 NA NA 1 NA NA 0 NA NA 1 9 NA 1 1 0.000998458 1 0.034479353 1 8.65E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 8 143547312 G T BAI1 ENST00000323289 r.? - - intronic 33 0 0 47 1 2.1 5 0 0 99 16 16.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 0.202031172 0.202031172 1 0 NA 0 0.99623622 0.99623622 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.209895027 1 1 1 1.17E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 5283346 G C - - - - - - 36 0 0 47 17 36.2 62 38 61.3 133 91 68.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 2.299764706 2.299764706 1 5.719401154 1.429850289 4 4.890330709 0.978066142 5 NA NA 0 NA NA 0 NA NA 1 9 NA 1 1 1.81E-27 1 3.14E-71 1 2.57E-175 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 9663786 G A PTPRD CCDS43786.1 r.? - - intronic 27 0 0 52 0 0 48 0 0 130 27 20.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 1.194866633 1.194866633 1 NA NA 1 NA NA 1 NA NA 0 2 NA 1 1 1 1 1 1 2.72E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 10146867 G T PTPRD CCDS43786.1 r.? - - intronic 31 0 0 43 2 4.7 55 2 3.6 89 10 11.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.51750347 0.51750347 1 0.335886528 0.335886528 1 0.643389726 0.643389726 1 NA NA 1 NA NA 1 NA NA 0 6 NA 1 1 0.019709573 1 0.031164417 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 20 37771488 C T - - - - - - 36 0 0 22 0 0 2 0 0 65 20 30.8 192 0 0 97 0 0 125 0 0 1 164 33 20.1 FALSE FALSE 0 0 1 0 NA 0 1.27807874 1.27807874 1 0 0 1 0 NA 0 0.834070866 0.834070866 1 NA NA 1 1 1 1 1 1 2.18E-30 2.75E-42 YES 0_0 0_0 1_1 somatic custom.pulldown.HiSeq PD9777b 20 55141948 A G - - - - - - 37 0 0 28 0 0 38 1 2.6 98 27 27.6 85 0 0 68 1 1.5 135 10 7.4 1.26E-06 110 26 23.6 FALSE TRUE 0 0 1 0.139716556 NA 0 1.145291339 1.145291339 1 0.118536387 0.118536387 1 0.397654812 0.838918866 0.474008666 0.979307087 0.979307087 1 NA 11 1 1 1 0.288836448 0.173434892 2.18E-09 5.38E-39 1.18E-35 YES 0_0 0_1 1_1 somatic custom.pulldown.HiSeq PD9777b 9 11613555 C G - - - - - - 23 0 0 59 7 11.9 106 9 8.5 198 35 17.7 0 0 NA 1 1 100 4 1 25 0.03940399 1 0 0 TRUE FALSE 1.310274743 1.310274743 1 0.793065413 0.793065413 1 1.016785548 1.016785548 1 11.01071212 11.01071212 1 2.332545332 2.332545332 1 0 NA 0 9 NA 1 1 2.12E-08 0.005 4.15E-09 0.019850499 1.26E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 11613564 C G - - - - - - 24 0 0 65 6 9.2 113 12 10.6 199 35 17.6 0 0 NA 1 1 100 3 1 33.3 0.029701 1 0 0 TRUE FALSE 1.012985515 1.012985515 1 0.988999221 0.988999221 1 1.011040997 1.011040997 1 11.01071212 11.01071212 1 3.106950382 3.106950382 1 0 NA 0 9 NA 1 1 0.000001 0.005 7.57E-13 0.014925125 1.52E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 85693718 C A DACH2 CCDS48140.1 r.? - - intronic 38 0 0 31 9 29 25 4 16 34 15 44.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.650325021 1.650325021 1 0.86476902 0.86476902 1 0.816218611 0.816218611 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 3.57E-14 1 0.00000727 1 5.18E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 21 10498113 G A - - - - - - 93 0 0 94 6 6.4 94 5 5.3 154 18 11.7 274 0 0 535 31 5.8 694 39 5.6 1.78E-17 635 57 9 TRUE TRUE 0.406588235 0.406588235 1 0.259684366 0.259684366 1 0.259512287 0.259512287 1 0.368470588 0.368470588 1 0.274383481 0.274383481 1 0.199624836 0.199624836 1 4 6 1 1 0.00000873 7.69E-23 0.000118532 7.98E-28 2.64E-19 4.27E-51 YES 1_1 1_1 1_1 somatic custom.pulldown.HiSeq PD9777b 9 13515036 C G - - - - - - 28 0 0 57 0 0 65 0 0 190 18 9.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.774212598 0.774212598 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.2E-17 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 14391019 C G - - - - - - 30 0 0 80 0 0 88 0 0 180 14 7.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.635669291 0.635669291 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 7.2E-13 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 22 44285362 G A PNPLA5 CCDS14053.1 r.679c>u c.549C>T p.T183T silent 38 0 0 36 7 19.4 14 2 14.3 52 15 28.8 228 0 0 12 0 0 30 3 10 0.003317709 33 17 51.5 TRUE TRUE 1.426470588 1.426470588 1 0.557657817 0.557657817 1 0.907086614 0.907086614 1 0 0 1 0.389970501 0.389970501 1 1.622047244 1.622047244 1 9 9 1 1 5.74E-10 1 0.002185852 0.000458697 1.15E-22 8.25E-31 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 16934213 T C - - - - - - 28 0 0 54 0 0 55 0 0 168 12 7.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.578622047 0.578622047 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 8.39E-11 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 17521847 A G - - - - - - 30 0 0 46 0 0 81 0 0 151 7 4.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.37488189 0.37488189 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.0000129 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 17711686 C T SH3GL2 CCDS6483.1 r.? - - intronic 27 0 0 66 0 0 69 0 0 165 13 7.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.643818898 0.643818898 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 4E-12 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 20416287 C T MLLT3 CCDS6494.1 r.? - - intronic 30 0 0 27 0 0 54 0 0 46 14 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.653480315 0.653480315 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.26E-21 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 23494493 G C - - - - - - 33 0 0 27 0 0 28 0 0 32 9 28.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.60403937 0.60403937 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 25719281 G T - - - - - - 25 0 0 38 0 0 23 0 0 42 15 35.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.767409449 0.767409449 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.65E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 28484000 C T LINGO2 CCDS6524.1 r.? - - intronic 31 0 0 27 0 0 18 1 5.6 38 20 52.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0.274383481 0.274383481 1 1.130692913 1.130692913 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 1 1 0.086275114 1 2.94E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 28813571 A G - - - - - - 23 0 0 25 2 8 27 2 7.4 33 18 54.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.508235294 0.508235294 1 0.362578171 0.362578171 1 1.171535433 1.171535433 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006948068 1 0.00807567 1 3.68E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 43526508 G A - - - - - - 37 0 0 25 1 4 4 1 25 34 10 29.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.254117647 0.254117647 1 1.224926254 1.224926254 1 0.647266552 0.647266552 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.117779757 1 0.019850499 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 70487048 C G CBWD5 CCDS43831.1 r.? - - intronic 9 0 0 7 0 0 3 0 0 9 3 33.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 1.048818898 1.048818898 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 1 1 1 1 0.0000103 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 76372214 C A - - - - - - 33 0 0 33 1 3 24 2 8.3 50 15 30 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.220588235 0.220588235 1 0.489675516 0.489675516 1 0.94488189 0.94488189 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.15245715 1 0.006413403 1 5.83E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 83325580 G T - - - - - - 44 0 0 31 5 16.1 37 4 10.8 61 19 31.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.183823529 1.183823529 1 0.637168142 0.637168142 1 0.979527559 0.979527559 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000476 1 0.0000362 1 4.64E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 83547627 C T - - - - - - 25 0 0 43 2 4.7 39 1 2.6 69 20 29 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.345588235 0.345588235 1 0.15339233 0.15339233 1 0.913385827 0.913385827 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.019709573 1 0.177567718 1 8.73E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 84881030 G T - - - - - - 38 0 0 37 5 13.5 39 3 7.7 72 23 31.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.992647059 0.992647059 1 0.454277286 0.454277286 1 1.004724409 1.004724409 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00000119 1 0.000998458 1 3.67E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 89805797 G C - - - - - - 38 0 0 29 0 0 40 0 0 69 8 11.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.365354331 0.365354331 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 2.49E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 90221318 A C DAPK1 CCDS43842.1 r.? - - intronic 17 0 0 17 1 5.9 24 2 8.3 71 23 32.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.433823529 0.433823529 1 0.489675516 0.489675516 1 1.020472441 1.020472441 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.081683532 1 0.006413403 1 2.51E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 94231386 A G - - - - - - 22 0 0 34 1 2.9 54 4 7.4 62 21 33.9 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.213235294 0.213235294 1 0.436578171 0.436578171 1 1.067716535 1.067716535 1 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.156694864 1 0.000161898 1 7.22E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 101074864 C T GABBR2 CCDS6736.1 r.? - - intronic 32 0 0 39 0 0 32 0 0 59 14 23.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.746456693 0.746456693 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 6.58E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 102982647 G A INVS CCDS6746.1 r.? - - intronic 25 1 4 28 2 7.1 38 5 13.2 56 17 30.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.522058824 0.522058824 1 0.778761062 0.778761062 1 0.957480315 0.957480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 0.117779757 1 0.008668191 1 0.00000137 1 6.22E-26 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 104534466 C T - - - - - - 25 0 0 36 3 8.3 44 2 4.5 71 17 23.9 0 0 NA 0 0 NA 2 0 0 1 0 0 NA TRUE FALSE 0.610294118 0.610294118 1 0.265486726 0.265486726 1 0.752755906 0.752755906 1 NA NA 1 0 0 1 NA NA 1 6 NA 1 1 0.000788827 1 0.020580492 1 6.12E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 105340757 C T C9orf107 ENST00000374801 r.? - - intronic 32 0 0 26 0 0 35 0 0 65 8 12.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.387401575 0.387401575 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 1.53E-09 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 105431100 G C - - - - - - 25 0 0 34 0 0 40 0 0 65 16 24.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.77480315 0.77480315 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 7.85E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 106095865 T A - - - - - - 31 0 0 28 4 14.3 34 2 5.9 52 16 30.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.051470588 1.051470588 1 0.348082596 0.348082596 1 0.97007874 0.97007874 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000116 1 0.012612579 1 1.33E-24 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 106468383 T A - - - - - - 23 0 0 37 1 2.7 35 4 11.4 55 19 34.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.198529412 0.198529412 1 0.672566372 0.672566372 1 1.086614173 1.086614173 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.169281299 1 0.0000289 1 4.51E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 110785714 G A - - - - - - 34 0 0 28 2 7.1 20 3 15 64 17 26.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.522058824 0.522058824 1 0.884955752 0.884955752 1 0.837795276 0.837795276 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.008668191 1 0.0001337 1 8.43E-25 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 120014456 G T ASTN2 CCDS48009.1 r.? - - intronic 26 0 0 37 0 0 52 0 0 55 9 16.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.516535433 0.516535433 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.01E-11 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 121928106 C T DBC1 CCDS6822.1 r.? - - downstream 25 0 0 29 3 10.3 32 3 9.4 48 24 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.757352941 0.757352941 1 0.554572271 0.554572271 1 1.57480315 1.57480315 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000414371 1 0.000556213 1 1.71E-42 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 122837913 G A - - - - - - 31 0 0 32 0 0 44 0 0 66 7 10.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.333858268 0.333858268 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 0.000000047 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 125054989 A T MRRF CCDS6840.1 r.? - - intronic 32 0 0 32 2 6.2 35 3 8.6 48 15 31.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.455882353 0.455882353 1 0.507374631 0.507374631 1 0.982677165 0.982677165 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.011224977 1 0.000725791 1 2.86E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 126913879 C T - - - - - - 26 0 0 25 3 12 35 4 11.4 74 29 39.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.882352941 0.882352941 1 0.672566372 0.672566372 1 1.234645669 1.234645669 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.00026475 1 0.0000289 1 4.68E-47 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 9 137179151 C A - - - - - - 23 0 0 19 3 15.8 4 0 0 38 14 36.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE 1.003764706 1.003764706 1 0 NA 0 0.791055118 0.791055118 1 NA NA 1 NA NA 0 NA NA 1 NA NA 1 1 0.000114071 1 1 1 5.28E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 4110667 C T - - - - - - 23 0 0 27 0 0 29 0 0 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA FALSE FALSE NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 1 1 1 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 5631803 G A - - - - - - 27 1 3.7 35 4 11.4 30 8 26.7 41 14 34.1 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.675134738 0.675134738 1 1.405547585 1.405547585 1 0.615553798 0.93900723 0.655536803 NA NA 1 NA NA 1 NA NA 1 9 NA 0.126579904 1 0.0000289 1 2.07E-12 1 1.9E-22 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 9654900 C G TBL1X CCDS14133.1 r.? - - intronic 45 0 0 30 0 0 26 0 0 62 6 9.7 174 0 0 43 0 0 58 0 0 1 51 3 5.9 TRUE TRUE 0 0 1 0 0 1 0.16367302 0.16367302 1 0 0 1 0 0 1 0.099553693 0.099553693 1 1 1 1 1 1 1 1 1 0.000000756 0.002175924 YES 0_0 0_0 1_1 somatic custom.pulldown.HiSeq PD9777b X 21676472 A C CNKSR2 CCDS14198.1 r.? - - downstream 29 0 0 10 1 10 4 2 50 25 15 60 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.592223454 0.592223454 1 2.632111583 2.632111583 1 1.28976378 1.28976378 1 NA NA 0 NA NA 1 NA NA 1 9 NA 1 1 0.04888987 1 0.000149002 1 9.52E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 30179714 G T - - - - - - 32 0 0 27 0 0 39 0 0 48 18 37.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.707541142 0.95980719 0.737170079 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.42E-29 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 30423469 G T - - - - - - 34 0 0 23 0 0 24 0 0 43 13 30.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.569806466 0.772964724 0.737170079 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 3.88E-20 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 51450909 T G - - - - - - 25 0 0 19 1 5.3 14 1 7.1 16 3 18.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.323969217 0.323969217 1 0.318841762 0.318841762 1 0.337926399 0.521592336 0.647874549 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.090843738 1 0.067769881 1 0.0000667 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 62264623 C A - - - - - - 40 0 0 33 0 0 16 0 0 48 20 41.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.749549514 1.156936192 0.647874549 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.4E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 63832643 G A - - - - - - 22 0 0 31 1 3.2 35 3 8.6 48 22 45.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.195604055 0.195604055 1 0.386202698 0.653446695 0.591024028 0.823246229 0.823246229 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.143917729 1 0.000725791 1 5.76E-38 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 67791570 C T - - - - - - 29 0 0 34 3 8.8 34 3 8.8 52 26 50 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.537911153 0.537911153 1 0.395184156 0.66864313 0.591024028 0.898740424 0.898740424 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000666058 1 0.000666058 1 6.52E-46 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 70474984 C G ZMYM3 CCDS14409.1 r.? - - upstream 17 0 0 25 2 8 17 1 5.9 24 5 20.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.489010139 0.489010139 1 0.264953013 0.264953013 1 0.373876016 0.577080882 0.647874549 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.006948068 1 0.081683532 1 0.000000123 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 72551187 G A - - - - - - 32 0 0 24 2 8.3 28 0 0 43 17 39.5 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.507348019 0.507348019 1 0 0 1 0.710004935 1.095898791 0.647874549 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.006413403 1 1 1 2.84E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 72738897 T C - - - - - - 28 0 0 27 0 0 28 0 0 54 19 35.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.632713259 0.976598416 0.647874549 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 2.97E-30 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 72887773 G A CHIC1 CCDS35335.2 r.? - - intronic 37 0 0 26 0 0 36 0 0 46 19 41.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.74235959 1.145838483 0.647874549 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 6.97E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b 19 13220797 G A TRMT1 CCDS12293.1 r.1288c>u c.1038C>T p.F346F silent 24 0 0 35 9 25.7 1 0 0 72 37 51.4 116 0 0 50 12 24 50 13 26 2.51E-15 71 30 42.3 FALSE TRUE 2.146705882 1.073352941 2 0 NA 0 2.20341744 1.030984204 2.13719806 2.004705882 1.002352941 2 1.273923304 1.273923304 1 1.813318244 0.906659122 2 NA 12 1 1 1.23E-13 2.49E-17 1 3.65E-19 2.64E-65 7.32E-50 YES 1_1 0_1 1_1 somatic custom.pulldown.HiSeq PD9777b X 77596953 C T - - - - - - 28 0 0 21 2 9.5 27 2 7.4 54 22 40.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.58069954 0.58069954 1 0.362578171 0.362578171 1 0.823691885 0.823691885 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.004928472 1 0.00807567 1 1.6E-36 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 77596971 T C - - - - - - 31 0 0 22 2 9.1 35 2 5.7 55 18 32.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.556249033 0.556249033 1 0.279283186 0.279283186 1 0.661786846 0.757014167 0.874206686 NA NA 1 NA NA 1 NA NA 1 6 NA 1 1 0.005403392 1 0.013332991 1 4.61E-28 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 106226957 A T MORC4 CCDS14525.2 r.? - - intronic 33 0 0 27 3 11.1 16 0 0 50 0 0 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.705176471 0.705176471 1 0 0 1 0 0 1 NA NA 1 NA NA 1 NA NA 1 8 NA 1 1 0.000334187 1 1 1 1 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 136612001 T C - - - - - - 36 0 0 30 5 16.7 36 4 11.1 52 23 44.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.060941176 1.060941176 1 0.543867257 0.543867257 1 0.950125984 0.950125984 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.000000401 1 0.0000324 1 3.66E-39 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 89732338 G T - - - - - - 24 0 0 19 0 0 32 0 0 57 26 45.6 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.567815399 0.567815399 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 1.57E-44 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 90840191 G A - - - - - - 31 0 0 15 3 20 25 4 16 48 20 41.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.138155187 1.138155187 1 0.86476902 0.86476902 1 0.720055493 1.247615229 0.577145482 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000544 1 0.00000727 1 1.4E-33 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 92153957 G T - - - - - - 23 0 0 22 2 9.1 32 3 9.4 45 19 42.2 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.51786061 0.51786061 1 0.508051799 0.508051799 1 0.728689252 1.262574644 0.577145482 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.005403392 1 0.000556213 1 4.11E-32 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 92313604 C A - - - - - - 18 0 0 16 3 18.8 19 2 10.5 28 18 64.3 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 1.069865876 1.069865876 1 0.567504669 0.567504669 1 1.110301395 1.110301395 1 NA NA 1 NA NA 1 NA NA 1 9 NA 1 1 0.0000667 1 0.004039874 1 4.77E-35 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 99526976 C T - - - - - - 39 0 0 26 2 7.7 25 3 12 47 13 27.7 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0.489176471 0.489176471 1 0.587964602 0.587964602 1 0.478310243 0.828751603 0.577145482 NA NA 1 NA NA 1 NA NA 0 9 NA 1 1 0.007502227 1 0.00026475 1 1.47E-19 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 17499453 A T NHS CCDS14181.1 r.? - - intronic 38 0 0 27 0 0 39 0 0 36 7 19.4 181 0 0 147 0 0 158 0 0 1 153 19 12.4 FALSE FALSE 0 NA 0 0 0 1 0.446092051 0.446092051 1 0 NA 0 0 0 1 0.285131001 0.285131001 1 NA NA 1 1 1 1 1 1 5.74E-10 8.34E-21 YES 0_0 0_0 1_1 somatic custom.pulldown.HiSeq PD9777b X 103610707 C A - - - - - - 37 0 0 31 0 0 15 0 0 39 6 15.4 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.33103937 0.33103937 1 NA NA 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 113096349 C G - - - - - - 30 0 0 36 0 0 29 0 0 37 14 37.8 0 0 NA 0 0 NA 0 0 NA 1 0 0 NA TRUE FALSE 0 0 1 0 0 1 0.812551181 0.812551181 1 NA NA 1 NA NA 1 NA NA 1 2 NA 1 1 1 1 1 1 3.35E-23 1 NO inad_validation_depth inad_validation_depth inad_validation_depth NA NA PD9777b X 114134812 G A HTR2C CCDS14564.1 r.? - 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