#CHROM POS REF ALT GENE MUT PRED SCORE FDR PHYLOP11 AVGPHYLOP11 SIFT 1 17682902 G T NEDD4L D409E Benign 0.198 0.240 -0.708 1.001 Tolerated 1 48948439 C A SOD2 -- Benign 0.039 0.302 0.821 0.177 - 1 57124585 C A KPNA5 H183N Benign 0.129 0.244 -0.502 -0.428 Tolerated 1 112736771 G T CYP2S1 P600T Pathogenic 0.517 0.073 0.452 0.803 Deleterious 1 114459278 G T MAP4K1 G796V Pathogenic 0.701 0.032 1.275 0.695 Deleterious 1 116587082 G T POLR2I -- Pathogenic 0.904 0.027 1.520 1.371 - 1 118090122 G T LSM14A Y49* Benign 0.020 0.373 0.307 0.258 - 2 1776906 G T CREM Q245K Pathogenic 0.516 0.075 0.957 0.460 Deleterious 2 19679187 A C VIM F15C Pathogenic 0.727 0.030 1.162 1.134 Deleterious 2 20159862 T A RSU1 F234L Pathogenic 0.559 0.053 0.241 1.037 Tolerated 2 21179120 G T ITGA8 D527Y Pathogenic 0.682 0.034 1.466 1.016 Deleterious 2 29847428 G T RBM17 Q39K Pathogenic 0.691 0.033 1.466 0.434 Tolerated 2 38900910 C A YIPF5 G41V Pathogenic 0.715 0.032 1.466 1.344 Tolerated 2 42615023 C A DHX29 A1250S Pathogenic 0.786 0.028 1.466 0.904 Tolerated 2 81283948 G T NECAP2 R101S Pathogenic 0.759 0.032 1.466 0.915 Deleterious 2 84295495 G T MFN2 D219E Benign 0.171 0.242 -0.095 0.709 Deleterious 3 19870478 A G MEF2C K30R Pathogenic 0.508 0.082 1.128 1.292 Deleterious 3 53232705 G T VPS33B -- Pathogenic 0.886 0.027 1.278 0.644 - 3 64306084 G T PROM1 G51V Benign 0.315 0.246 1.538 0.127 Deleterious 3 71814648 G T APBB2 K551N Pathogenic 0.678 0.034 1.538 1.292 Deleterious 3 85599868 G T DHX15 A633S Pathogenic 0.824 0.028 1.538 1.061 Tolerated 4 8054207 G T EGLN1 R241L Benign 0.420 0.256 0.048 0.234 Tolerated 4 14709370 G A EGR2 T12I Benign 0.317 0.246 1.504 1.279 Deleterious 4 35904595 C T DBN1 A129V Pathogenic 0.899 0.027 1.505 0.625 Tolerated 5 1093519 G T JAM3 D62E Pathogenic 0.505 0.085 0.415 1.201 Tolerated 5 10546692 C T OR4D5 R173K Benign 0.130 0.244 0.238 0.658 Tolerated 5 15580867 G T TMPRSS4 H237N Pathogenic 0.587 0.045 1.411 0.429 Deleterious 5 19936632 G T NCAM1 L523M Benign 0.109 0.249 -1.776 0.126 Tolerated 5 21512196 T G LAYN M448L Pathogenic 0.608 0.041 -1.477 -0.000 Tolerated 5 35701177 C A SHISA6 P216T Pathogenic 0.749 0.032 1.460 0.686 Tolerated 5 43558604 G T MIER1 S138* Pathogenic 0.603 0.043 1.214 0.600 - 5 80589491 G T TANGO6 -- Pathogenic 0.514 0.076 1.214 0.487 - 5 82082711 G T KCTD19 R221L Pathogenic 0.916 0.027 1.460 0.868 Deleterious 5 86506666 G C CDH8 R126P Pathogenic 0.903 0.027 1.460 0.773 Deleterious 6 12780162 G T RADIL Q69H Pathogenic 0.573 0.049 0.351 0.951 Tolerated 6 17245485 G T SETD1A D51E Benign 0.362 0.250 0.434 0.950 Deleterious 6 17868300 G A MAZ V266M Pathogenic 0.587 0.045 0.970 0.528 Deleterious 6 41764111 T C KCNC4 T137A Benign 0.138 0.243 -0.121 0.312 Tolerated 6 77395176 G T GADD45A S93R Benign 0.097 0.250 0.001 -0.117 Deleterious 7 19391123 G A TPR A1796V Pathogenic 0.612 0.041 1.475 0.927 Deleterious 7 20726560 G T ABL2 G754V Pathogenic 0.595 0.045 1.475 0.639 Tolerated 7 36513650 C A KIF26B H2018N Pathogenic 0.551 0.057 1.477 0.672 Deleterious 7 42692258 G T KCNN3 A587S Pathogenic 0.638 0.037 1.475 0.560 Tolerated 7 78448484 C A SEH1L A925E Pathogenic 0.554 0.056 1.232 0.260 Deleterious 8 3662777 C T MYH7 V1414M Pathogenic 0.660 0.036 1.480 0.178 Deleterious 8 3751349 C A ZFHX2 V2528F Benign 0.258 0.243 -0.211 0.275 Deleterious 8 4082920 C T CPNE6 R332C Pathogenic 0.780 0.027 0.422 0.511 Tolerated 8 10249084 C A STRN3 D484Y Pathogenic 0.737 0.032 1.480 1.049 Deleterious 8 27279723 G A PYGL P560L Benign 0.288 0.244 0.992 0.213 Deleterious 8 70789401 G A TRAF3 W488* Pathogenic 0.875 0.027 1.484 0.967 - 9 290485 A G DCXR N82S Benign 0.336 0.248 0.261 0.271 Deleterious 9 7098385 G T SLC39A11 -- Pathogenic 0.649 0.037 1.399 1.045 - 9 34799464 G T INTS2 K1089N Pathogenic 0.511 0.079 0.374 1.132 Tolerated 9 35190833 G T TBX4 G99 Pathogenic 0.813 0.027 1.399 1.367 - 9 38341196 G A RFFL *367 Pathogenic 0.660 0.036 1.399 0.820 - 9 45131843 G T VPS53 A279S Pathogenic 0.763 0.030 1.399 1.143 Tolerated 9 45643764 G T MYO1C -- Benign 0.215 0.242 -0.354 0.308 - 9 48042840 G T EHMT1 S952R Benign 0.240 0.242 -0.439 0.968 Tolerated 10 3491309 G A SLC16A7 D278N Pathogenic 0.616 0.040 1.467 0.940 Deleterious 10 22890781 C A RRP7A A273D Pathogenic 0.812 0.027 1.466 0.955 Deleterious 10 33344781 G T ALDH1L2 G586C Benign 0.045 0.281 1.156 0.777 Deleterious 10 46414683 C A LRPPRC A251S Pathogenic 0.793 0.027 1.466 1.079 Tolerated 10 55556909 C A SPTBN1 F2073L Benign 0.310 0.246 -0.807 -0.268 Deleterious 10 60599104 C A BCL11A V374F Pathogenic 0.719 0.031 1.466 1.110 Tolerated 10 68686452 G A PCBP1 G22R Benign 0.431 0.258 0.297 -0.155 Deleterious 11 51322992 C A GALT -- Benign 0.228 0.243 -0.231 0.622 - 11 72683955 C A BRINP1 L141F Pathogenic 0.691 0.033 1.502 1.270 Deleterious 12 985429 C T DLA-64 R243W Benign 0.026 0.339 -0.995 -0.380 Deleterious 12 2249028 A T DLA-DQBC1 F79Y Benign 0.015 0.423 -0.461 -0.152 Tolerated 12 3624948 C G NUDT3 C68S Pathogenic 0.667 0.036 1.518 0.844 Tolerated 12 14524039 C A RCAN2 -- Pathogenic 0.889 0.027 1.518 0.811 - 12 18448436 C A TFAP2D N20K Pathogenic 0.639 0.037 1.518 1.262 Tolerated 12 37499758 C A MYO6 A1115D Pathogenic 0.716 0.032 1.518 1.348 Deleterious 12 44922021 C A TBX18 K249N Benign 0.471 0.261 0.446 0.819 Deleterious 12 64307744 C A BEND3 A298S Pathogenic 0.583 0.046 0.446 0.470 Tolerated 13 6435676 A G ZFPM2 I32V Benign 0.141 0.243 -0.219 0.589 Tolerated 13 25203045 C T MYC P60L Pathogenic 0.856 0.027 1.549 1.014 Deleterious 13 28781064 A T KCNQ3 -- Benign 0.279 0.244 0.143 -0.022 - 13 39379760 C A ATP8A1 S1102I Pathogenic 0.659 0.036 1.549 1.013 Tolerated 14 3444649 G T EXOC4 A678E Pathogenic 0.818 0.028 1.528 1.437 Tolerated 14 8732961 G T ARF5 Q128K Pathogenic 0.816 0.028 1.528 1.347 Deleterious 14 15243537 C A ZNF804B P139T Pathogenic 0.520 0.071 -0.401 0.737 Tolerated 14 32223356 C A SNX13 A255S Pathogenic 0.819 0.029 1.526 1.083 Tolerated 15 3171952 G T PPIE T43K Benign 0.022 0.373 0.616 0.526 Deleterious 15 3388179 G T MACF1 -- Benign 0.105 0.249 -1.063 0.666 - 15 16310935 G T IPO13 Y185* Pathogenic 0.586 0.046 -0.323 0.979 - 15 16753205 G T SZT2 Q1119K Pathogenic 0.776 0.029 1.511 0.937 Tolerated 15 17624653 C A OR11H4 L162I Pathogenic 0.559 0.053 1.043 0.691 Tolerated 16 8832742 G T PARP12 -- Pathogenic 0.627 0.039 -0.004 0.609 - 16 18523148 C A RBM33 -- Benign 0.265 0.244 0.413 0.610 - 17 37321890 T G PAX8 Q317P Pathogenic 0.596 0.045 1.156 1.418 Tolerated 17 49158170 C A ACTC E58* Pathogenic 0.792 0.028 0.962 0.351 - 17 52422441 C A CSDE1 A655S Pathogenic 0.569 0.050 1.111 1.064 Tolerated 17 58751234 G T ANKRD34A S313Y Pathogenic 0.683 0.034 1.486 0.686 Tolerated 17 59819439 C A GOLPH3L A271S Pathogenic 0.617 0.039 1.486 0.790 Tolerated 18 26205591 G T TTC17 S1019R Pathogenic 0.690 0.033 1.506 1.311 Deleterious 18 41229445 T C OR12E07 I150T Benign 0.025 0.339 0.509 0.335 Tolerated 18 52310367 G T EHD1 R373M Pathogenic 0.568 0.050 1.506 0.816 Deleterious 19 23281672 G T MAP3K2 -- Benign 0.278 0.244 0.722 -0.017 - 19 23316496 G T ERCC3 L321F Pathogenic 0.765 0.030 0.496 0.693 Deleterious 20 16859891 T C CHL1 -- Benign 0.124 0.244 0.979 1.019 - 20 22700924 G T TMF1 A675S Pathogenic 0.823 0.029 1.455 0.918 Tolerated 20 28642681 G T CADPS D1134Y Pathogenic 0.644 0.037 1.455 1.060 Deleterious 20 45755226 A G SIN3B S620P Benign 0.241 0.242 0.248 -0.365 Deleterious 20 52724740 C A FBN3 V2797L Pathogenic 0.500 0.092 -0.040 0.468 - 21 1492779 G T CNTN5 P202Q Pathogenic 0.847 0.027 1.497 1.271 Deleterious 21 5163206 G T MAML2 S1014I Benign 0.214 0.241 1.497 0.451 Deleterious 21 15231870 C T DLG2 P221S Pathogenic 0.706 0.033 1.490 0.595 Tolerated 21 16273606 G T PRCP V319L Benign 0.140 0.243 -0.010 -0.174 Tolerated 21 41072807 C A TMEM86A T73N Benign 0.426 0.257 1.490 0.346 Tolerated 22 659080 G T SERPINE3 L244M Pathogenic 0.794 0.027 1.608 0.643 Deleterious 22 22210106 C A PCDH9 G268V Pathogenic 0.755 0.031 1.605 0.623 Deleterious 22 31113101 G A SCEL R206Q Benign 0.071 0.259 -0.673 -0.151 Tolerated 22 32633547 C A RBM26 A75S Pathogenic 0.729 0.030 1.605 1.301 Tolerated 22 36328665 C A SLITRK1 Q59H Pathogenic 0.561 0.053 1.605 1.301 Tolerated 22 59902865 C A SOX1 L194M Pathogenic 0.500 0.092 -0.784 -0.436 Tolerated 22 60519411 C A MCF2L D66E Pathogenic 0.575 0.049 0.505 1.286 Deleterious 23 11769208 C A NKTR S51Y Pathogenic 0.981 0.027 1.504 0.749 Deleterious 23 35549944 C A COPB2 Q223H Pathogenic 0.595 0.045 0.438 1.134 Tolerated 23 48374909 C A ARHGEF26 -- Benign 0.046 0.281 0.000 0.089 - 24 3081923 A T C20orf26 Y987N Benign 0.166 0.241 1.208 0.567 Deleterious 24 8779018 G T SEL1L2 -- Pathogenic 0.695 0.034 1.447 1.164 - 24 46987163 T C ARFGAP1 C45R Pathogenic 0.525 0.068 0.827 0.609 Deleterious 25 17008716 G T SAP18 -- Pathogenic 0.946 0.027 1.140 0.937 - 25 17333085 G T XPO4 Q641H Pathogenic 0.775 0.029 0.457 1.165 Deleterious 25 23940817 C A HMGB2 K43N Pathogenic 0.694 0.034 1.265 1.039 Deleterious 25 30795027 G T ADRA1A R347L Pathogenic 0.868 0.027 1.513 0.331 Deleterious 25 35056146 G T BMP1 S574* Pathogenic 0.932 0.027 1.513 1.365 - 26 1348341 C T GPR133 V205I Pathogenic 0.508 0.082 0.364 0.404 Tolerated 26 8198762 C A ATP2A2 H566N Pathogenic 0.785 0.028 1.493 0.860 Tolerated 26 16099945 C T GCN1L1 A2027T Pathogenic 0.720 0.031 1.493 0.660 Deleterious 26 24426686 C A SFI1 -- Pathogenic 0.539 0.061 0.417 0.896 - 26 30920594 G A SDF2L1 V272M Benign 0.090 0.251 0.417 0.298 Deleterious 27 2711480 C G KRT85 L403V Pathogenic 0.566 0.051 1.249 0.627 Tolerated 27 3268869 G A SCN8A A205V Benign 0.344 0.249 0.293 0.281 Deleterious 27 14020617 G T ABCD2 C25F Pathogenic 0.821 0.029 1.496 0.993 Tolerated 27 37953757 G T C1R A154S Pathogenic 0.743 0.031 1.228 0.642 Deleterious 28 8499274 A C NOC3L L431V Benign 0.102 0.250 -0.403 0.378 Tolerated 28 8869141 G A SORBS1 R748C Pathogenic 0.739 0.032 1.452 0.527 Deleterious 28 10836197 C T UBTD1 P167L Benign 0.254 0.243 -0.805 -0.892 Tolerated 28 14220622 C A FBXW4 A524S Pathogenic 0.732 0.031 1.450 0.513 Tolerated 28 15350594 A G CNNM2 K301R Benign 0.258 0.243 0.059 0.196 Tolerated 29 19154065 A C VTI1B Y84D Benign 0.031 0.316 -0.010 0.640 Deleterious 29 19297060 C A NCOA2 G439V Pathogenic 0.917 0.027 1.559 1.463 Tolerated 29 28814981 G A ZFAND1 A144V Pathogenic 0.697 0.033 1.560 0.304 Deleterious 30 2640344 C A AQR -- Pathogenic 0.921 0.027 1.420 1.008 - 30 9231649 G A ZNF106 Q1820* Pathogenic 0.889 0.027 1.170 0.432 - 30 9615478 T A STARD9 F578I Benign 0.238 0.242 1.108 0.624 Deleterious 30 27656206 C A TPM1 A277D Pathogenic 0.781 0.027 1.420 1.151 Deleterious 30 30237321 C A MEGF11 E995D Benign 0.176 0.243 0.288 0.278 Tolerated 30 33853555 C A TLE3 A659S Pathogenic 0.538 0.062 0.297 0.755 Deleterious 31 27339688 C A SYNJ1 D719Y Pathogenic 0.716 0.032 1.635 0.920 Deleterious 32 522539 C A SDAD1 E494D Pathogenic 0.530 0.065 -0.322 0.643 Tolerated 32 26663249 G A GSTCD V627I Pathogenic 0.552 0.056 0.495 0.692 Tolerated 33 23074161 C A ARHGAP31 P1224T Pathogenic 0.788 0.028 1.538 1.134 Deleterious 34 5061924 G T SEMA5A G769V Pathogenic 0.832 0.028 1.575 0.602 Tolerated 34 17228975 C T CLCN2 R806Q Pathogenic 0.964 0.027 1.573 1.251 Tolerated 34 20116913 C A BCL6 C523F Pathogenic 0.612 0.041 1.573 0.979 Deleterious 34 34699021 G A PHC3 P576S Pathogenic 0.743 0.031 1.575 0.517 Tolerated 36 16160129 C A DYNC1I2 S538R Pathogenic 0.601 0.044 1.522 1.238 Tolerated 36 22215161 C T TTN E18447K Pathogenic 0.697 0.033 1.522 0.792 - 37 5534656 C A DNAH7 E3803* Pathogenic 0.968 0.027 1.510 0.690 - X 38897244 G A KDM6A A224T Benign 0.115 0.247 1.156 1.037 Deleterious X 47862978 C A UBQLN2 L588I Pathogenic 0.598 0.044 1.454 1.297 Deleterious X 82792619 C A NXT2 P179T Pathogenic 0.775 0.029 0.382 0.303 Tolerated X 104527415 G T GPC3 P185T Pathogenic 0.560 0.053 1.008 0.582 Deleterious X 121801838 C A HCFC1 A624S Pathogenic 0.856 0.027 1.454 0.576 Tolerated X 122154370 C T FAM50A A303V Pathogenic 0.794 0.027 1.454 0.558 Deleterious