chr pos ref alt gene_id effect impact aachange transcript_id tumour_ref_count tumour_alt_count tumour_total_count af_tumour Case_id X 123680901 T G TENM1 missense_variant MODERATE Q825P ENST00000371130 32 8 40 0.2 Case1 3 128694655 AGCT A KIAA1257 inframe_deletion MODERATE S329 ENST00000265068 50 15 65 0.230769230769231 Case1 6 25515982 C T CARMIL1 missense_variant MODERATE T571I ENST00000329474 54 7 61 0.114754098360656 Case1 5 167674689 G A TENM2 missense_variant MODERATE D2073N ENST00000403607 51 9 60 0.15 Case1 4 77816950 C G SOWAHB missense_variant MODERATE V685L ENST00000334306 43 10 53 0.188679245283019 Case1 4 71275184 C T OPRPN missense_variant MODERATE P47S ENST00000399575 49 14 63 0.222222222222222 Case1 4 8870042 C T HMX1 missense_variant MODERATE E142K ENST00000400677 41 12 53 0.226415094339623 Case1 22 25335390 G C TMEM211 missense_variant MODERATE T38S ENST00000423535 76 14 90 0.155555555555556 Case1 2 43657438 C T THADA missense_variant MODERATE M1280I ENST00000405975 67 25 92 0.271739130434783 Case1 19 52941779 T G ZNF534 missense_variant MODERATE C356G ENST00000433050 77 14 91 0.153846153846154 Case1 19 16060581 G C OR10H4 missense_variant MODERATE S255T ENST00000322107 56 14 70 0.2 Case1 3 41266136 T G CTNNB1 missense_variant MODERATE S45A ENST00000349496 44 10 54 0.185185185185185 Case1 17 7578431 G A TP53 stop_gained HIGH Q167* ENST00000269305 44 16 60 0.266666666666667 Case1 16 56553710 C T BBS2 missense_variant MODERATE G22E ENST00000245157 78 15 93 0.161290322580645 Case1 12 113812681 C G PLBD2 missense_variant MODERATE S243C ENST00000280800 49 8 57 0.140350877192982 Case1 12 72962428 A C TRHDE missense_variant MODERATE N663T ENST00000261180 82 19 101 0.188118811881188 Case1 12 57652762 T C R3HDM2 missense_variant MODERATE M724V ENST00000347140 58 10 68 0.147058823529412 Case1 11 610276 G T PHRF1 missense_variant MODERATE V1448L ENST00000416188 45 7 52 0.134615384615385 Case1 10 129899664 C G MKI67 missense_variant MODERATE G3188A ENST00000368654 44 13 57 0.228070175438596 Case1 10 118713646 C A KIAA1598 stop_gained HIGH E115* ENST00000260777 67 21 88 0.238636363636364 Case1 17 45696415 G T NPEPPS missense_variant MODERATE G815V ENST00000322157 73 7 80 0.0875 Case1 10 102748820 C T TWNK stop_gained HIGH R285* ENST00000311916 43 18 61 0.295081967213115 Case1 22 50277362 G A ZBED4 missense_variant MODERATE D18N ENST00000216268 41 39 80 0.4875 Case2 3 69813042 C G MITF missense_variant MODERATE S17C ENST00000328528 76 34 110 0.309090909090909 Case2 3 178938844 G A PIK3CA missense_variant MODERATE G696R ENST00000263967 70 21 91 0.230769230769231 Case2 4 8288386 G A HTRA3 missense_variant MODERATE S195N ENST00000307358 26 23 49 0.469387755102041 Case2 5 167622290 C A TENM2 missense_variant MODERATE Q788K ENST00000403607 42 29 71 0.408450704225352 Case2 5 140222492 A G PCDHA8 missense_variant MODERATE E529G ENST00000531613 49 16 65 0.246153846153846 Case2 5 148689672 C T AFAP1L1 stop_gained HIGH R301* ENST00000296721 75 20 95 0.210526315789474 Case2 22 43976536 C T EFCAB6 stop_gained HIGH W860* ENST00000396231 33 25 58 0.431034482758621 Case2 4 68934388 C T TMPRSS11F missense_variant MODERATE A235T ENST00000356291 59 31 90 0.344444444444444 Case2 21 47754488 A G PCNT missense_variant MODERATE S149G ENST00000359568 40 7 47 0.148936170212766 Case2 5 137290027 CAG C FAM13B frameshift_variant HIGH S493 ENST00000033079 64 22 86 0.255813953488372 Case2 21 32559400 A T TIAM1 missense_variant MODERATE F860Y ENST00000286827 64 34 98 0.346938775510204 Case2 21 14823630 C G GTF2IP2 splice_donor_variant+intron_variant HIGH ENST00000424290 71 38 109 0.348623853211009 Case2 2 201757075 G A NIF3L1 missense_variant MODERATE V110I ENST00000359683 87 28 115 0.243478260869565 Case2 2 113514059 C G CKAP2L missense_variant MODERATE V297L ENST00000302450 104 25 129 0.193798449612403 Case2 19 55805749 T C BRSK1 missense_variant MODERATE L221P ENST00000309383 63 21 84 0.25 Case2 19 54946801 C T TTYH1 missense_variant MODERATE S402F ENST00000301194 58 18 76 0.236842105263158 Case2 19 35524889 C A SCN1B missense_variant MODERATE L232I ENST00000415950 81 28 109 0.256880733944954 Case2 19 8618292 G C MYO1F missense_variant MODERATE A119G ENST00000338257 42 21 63 0.333333333333333 Case2 6 4079090 C G FAM217A missense_variant MODERATE A116P ENST00000470599 46 24 70 0.342857142857143 Case2 21 36078335 C G CLIC6 missense_variant MODERATE T462S ENST00000360731 78 32 110 0.290909090909091 Case2 6 84799192 C G MRAP2 missense_variant MODERATE L204V ENST00000257776 76 34 110 0.309090909090909 Case2 X 37948818 C A SYTL5 missense_variant MODERATE T270N ENST00000297875 53 32 85 0.376470588235294 Case2 6 170143294 G A TCTE3 missense_variant MODERATE S123F ENST00000366774 80 33 113 0.292035398230088 Case2 X 66765158 TGCAGCAGCAGCAGCAGCAGCAGCA T AR disruptive_inframe_deletion MODERATE LQQQQQQQQ57L ENST00000374690 61 2 63 0.031746031746032 Case2 X 27765399 AGAGGAGGAGGAGGAG A DCAF8L2 disruptive_inframe_deletion MODERATE EEEEE130 ENST00000451261 16 3 19 0.157894736842105 Case2 19 45540756 ACCT A RELB disruptive_inframe_deletion MODERATE DL483D ENST00000221452 90 21 111 0.189189189189189 Case2 19 14584223 CCAT C PTGER1 inframe_deletion MODERATE M303 ENST00000292513 25 12 37 0.324324324324324 Case2 14 29247098 ATCT A LINC01551 disruptive_inframe_deletion MODERATE IF53I ENST00000552957 80 24 104 0.230769230769231 Case2 11 1270396 ACCACGG A MUC5B disruptive_inframe_deletion MODERATE TTA4096T ENST00000529681 92 5 97 0.051546391752577 Case2 6 30593333 CCT C MRPS18B frameshift_variant HIGH TS179 ENST00000259873 50 24 74 0.324324324324324 Case2 X 117861669 G T IL13RA1 missense_variant MODERATE G23V ENST00000371666 56 12 68 0.176470588235294 Case2 X 99852535 C T TNMD missense_variant MODERATE S153L ENST00000373031 71 36 107 0.336448598130841 Case2 X 48759495 G C PQBP1 splice_acceptor_variant+intron_variant HIGH ENST00000465859 41 22 63 0.349206349206349 Case2 17 29119491 G A CRLF3 missense_variant MODERATE P309L ENST00000324238 77 17 94 0.180851063829787 Case2 9 140477492 C G ZMYND19 missense_variant MODERATE E161D ENST00000298585 43 27 70 0.385714285714286 Case2 9 139299638 G A SDCCAG3 missense_variant MODERATE R281W ENST00000298537 52 35 87 0.402298850574713 Case2 9 712604 T A KANK1 missense_variant MODERATE L613H ENST00000382303 55 29 84 0.345238095238095 Case2 8 94746254 G C RBM12B missense_variant MODERATE F795L ENST00000399300 49 17 66 0.257575757575758 Case2 7 158734632 G A WDR60 missense_variant MODERATE G932E ENST00000407559 47 29 76 0.381578947368421 Case2 7 48285136 C A ABCA13 missense_variant MODERATE A473D ENST00000435803 73 33 106 0.311320754716981 Case2 7 40133791 C T CDK13 missense_variant MODERATE R1251W ENST00000181839 53 28 81 0.345679012345679 Case2 7 16666701 G T ANKMY2 missense_variant MODERATE H79N ENST00000306999 77 39 116 0.336206896551724 Case2 6 159291328 G A C6orf99 missense_variant MODERATE G36R ENST00000367073 57 31 88 0.352272727272727 Case2 17 9830049 C T GAS7 missense_variant MODERATE R168H ENST00000580865 30 30 60 0.5 Case2 20 57767243 C T ZNF831 missense_variant MODERATE P390L ENST00000371030 80 30 110 0.272727272727273 Case2 16 84270810 G T KCNG4 stop_gained HIGH Y94* ENST00000308251 22 19 41 0.463414634146341 Case2 16 89574894 G C SPG7 missense_variant MODERATE W23C ENST00000268704 83 19 102 0.186274509803922 Case2 1 67450290 A C MIER1 missense_variant MODERATE K433Q ENST00000357692 78 28 106 0.264150943396226 Case2 1 114524314 C T OLFML3 missense_variant MODERATE R382C ENST00000320334 53 25 78 0.320512820512821 Case2 1 155904155 C A KIAA0907 missense_variant MODERATE G4W ENST00000368321 40 21 61 0.344262295081967 Case2 1 161145721 G C B4GALT3 missense_variant MODERATE P44A ENST00000319769 51 27 78 0.346153846153846 Case2 1 235840396 T G LYST missense_variant MODERATE D3678A ENST00000389793 64 27 91 0.296703296703297 Case2 10 24832914 A T KIAA1217 missense_variant MODERATE K1572M ENST00000376454 44 30 74 0.405405405405405 Case2 10 127409972 C A EDRF1 missense_variant MODERATE P103Q ENST00000337623 71 19 90 0.211111111111111 Case2 10 134188696 T G LRRC27 missense_variant MODERATE F515V ENST00000368614 39 21 60 0.35 Case2 11 55563794 G A OR5D14 missense_variant MODERATE G255R ENST00000335605 62 24 86 0.279069767441861 Case2 11 58170417 T A OR5B3 missense_variant MODERATE I156F ENST00000309403 45 30 75 0.4 Case2 11 78780986 C G TENM4 missense_variant MODERATE D2H ENST00000278550 56 26 82 0.317073170731707 Case2 10 75184893 G A MSS51 missense_variant MODERATE R376C ENST00000372912 24 28 52 0.538461538461538 Case2 12 56232292 C A MMP19 missense_variant MODERATE S10I ENST00000394182 56 28 84 0.333333333333333 Case2 12 109971799 G A UBE3B missense_variant MODERATE G316E ENST00000538070 74 25 99 0.252525252525252 Case2 12 123345895 G A HIP1R missense_variant MODERATE R998H ENST00000253083 55 20 75 0.266666666666667 Case2 14 23355396 G T REM2 missense_variant MODERATE G228V ENST00000267396 77 26 103 0.252427184466019 Case2 16 31425925 C T ITGAD missense_variant+splice_region_variant MODERATE P717L ENST00000389202 70 29 99 0.292929292929293 Case2 14 80328277 G C NRXN3 missense_variant MODERATE Q1052H ENST00000554719 91 19 110 0.172727272727273 Case2 14 102472318 C T DYNC1H1 stop_gained HIGH R1843* ENST00000360184 103 34 137 0.248175182481752 Case2 15 85476457 G A SLC28A1 missense_variant MODERATE V389M ENST00000286749 51 22 73 0.301369863013699 Case2 16 20442608 C A ACSM5 missense_variant MODERATE P425T ENST00000331849 110 17 127 0.133858267716535 Case2 16 20856012 G C REXO5 missense_variant MODERATE G594A ENST00000261377 92 23 115 0.2 Case2 12 8075541 G A SLC2A3 missense_variant MODERATE P383L ENST00000075120 58 32 90 0.355555555555556 Case2 14 75329990 G C PROX2 missense_variant MODERATE P183R ENST00000445876 59 6 65 0.092307692307692 Case3 14 75329991 G T PROX2 missense_variant MODERATE P183T ENST00000445876 62 5 67 0.074626865671642 Case3 14 105412163 C G AHNAK2 missense_variant MODERATE V3209L ENST00000333244 13 11 24 0.458333333333333 Case3 14 105412561 C T AHNAK2 missense_variant MODERATE R3076H ENST00000333244 14 19 33 0.575757575757576 Case3 15 75646083 G A NEIL1 missense_variant MODERATE G241D ENST00000355059 62 7 69 0.101449275362319 Case3 15 63930723 C T HERC1 missense_variant MODERATE G3994R ENST00000443617 87 5 92 0.054347826086957 Case3 15 73614977 G T HCN4 missense_variant MODERATE P1153T ENST00000261917 29 22 51 0.431372549019608 Case3 15 75131666 C A ULK3 missense_variant MODERATE A301S ENST00000440863 17 24 41 0.585365853658537 Case3 15 85196027 A C WDR73 missense_variant MODERATE F39C ENST00000434634 60 2 62 0.032258064516129 Case3 12 123649881 C T MPHOSPH9 missense_variant MODERATE G760E ENST00000541076 78 11 89 0.123595505617978 Case3 14 105415279 T C AHNAK2 missense_variant MODERATE K2170R ENST00000333244 15 8 23 0.347826086956522 Case3 12 97015446 G A CFAP54 missense_variant MODERATE G1240R ENST00000524981 83 8 91 0.087912087912088 Case3 9 15744649 G A CCDC171 missense_variant MODERATE A810T ENST00000380701 84 31 115 0.269565217391304 Case3 12 44605084 G C TMEM117 missense_variant MODERATE M174I ENST00000266534 91 36 127 0.283464566929134 Case3 11 123989360 C T VWA5A missense_variant MODERATE S197F ENST00000456829 36 39 75 0.52 Case3 11 46717242 T G ARHGAP1 missense_variant MODERATE D66A ENST00000311956 51 5 56 0.089285714285714 Case3 10 135033486 C G KNDC1 missense_variant MODERATE L1630V ENST00000304613 47 20 67 0.298507462686567 Case3 10 94234682 G C IDE missense_variant MODERATE P678A ENST00000265986 81 11 92 0.119565217391304 Case3 1 196642249 G A CFH missense_variant MODERATE R67K ENST00000367429 31 36 67 0.537313432835821 Case3 1 162470702 G A UHMK1 splice_acceptor_variant+intron_variant HIGH ENST00000489294 57 19 76 0.25 Case3 7 129311339 G T NRF1 missense_variant MODERATE E98D ENST00000223190 49 40 89 0.449438202247191 Case3 7 151841814 GC TG KMT2C missense_variant MODERATE A4776Q ENST00000262189 80 29 109 0.26605504587156 Case3 16 19195257 G T SYT17 missense_variant MODERATE V247F ENST00000355377 59 8 67 0.119402985074627 Case3 9 27949442 G T LINGO2 missense_variant MODERATE P410T ENST00000379992 69 30 99 0.303030303030303 Case3 9 126143991 G T DENND1A missense_variant MODERATE A917D ENST00000373624 64 7 71 0.098591549295775 Case3 12 85255694 A T SLC6A15 missense_variant MODERATE F637Y ENST00000266682 80 36 116 0.310344827586207 Case3 16 55844512 A G CES1 missense_variant MODERATE V410A ENST00000422046 60 9 69 0.130434782608696 Case3 19 9002519 G C MUC16 missense_variant MODERATE H13433D ENST00000397910 72 16 88 0.181818181818182 Case3 6 133849906 T C EYA4 missense_variant MODERATE L628P ENST00000367895 87 69 156 0.442307692307692 Case3 9 127996050 C A RABEPK missense_variant MODERATE P304T ENST00000373538 109 7 116 0.060344827586207 Case3 3 195505826 G C MUC4 missense_variant MODERATE L4209V ENST00000463781 43 0 43 0 Case3 3 194080656 G A LRRC15 stop_gained HIGH Q373* ENST00000347624 42 10 52 0.192307692307692 Case3 3 164741512 G C SI missense_variant MODERATE S982C ENST00000264382 39 43 82 0.524390243902439 Case3 3 134327650 C T KY missense_variant MODERATE A311T ENST00000423778 42 30 72 0.416666666666667 Case3 3 75790838 C T ZNF717 stop_gained HIGH W36* ENST00000422325 23 0 23 0 Case3 3 52005514 G C ABHD14B missense_variant MODERATE A58G ENST00000395008 66 36 102 0.352941176470588 Case3 3 52005508 G A ABHD14B missense_variant MODERATE A60V ENST00000395008 65 37 102 0.362745098039216 Case3 20 47607734 A T ARFGEF2 missense_variant+splice_region_variant MODERATE E991V ENST00000371917 44 11 55 0.2 Case3 2 159490722 A T PKP4 missense_variant MODERATE N495Y ENST00000389757 51 7 58 0.120689655172414 Case3 2 37483853 C T PRKD3 missense_variant MODERATE A789T ENST00000379066 38 6 44 0.136363636363636 Case3 19 54744729 G T LILRA6 missense_variant MODERATE D311E ENST00000396365 68 15 83 0.180722891566265 Case3 7 107566690 C T LAMB1 missense_variant MODERATE E1668K ENST00000222399 66 33 99 0.333333333333333 Case3 19 53644716 C A ZNF347 missense_variant MODERATE K455N ENST00000334197 97 34 131 0.259541984732824 Case3 19 40424126 G T FCGBP missense_variant MODERATE P693T ENST00000221347 60 30 90 0.333333333333333 Case3 19 10248611 G C DNMT1 missense_variant MODERATE A1397G ENST00000359526 71 5 76 0.065789473684211 Case3 19 9002576 T C MUC16 missense_variant MODERATE K13414E ENST00000397910 72 16 88 0.181818181818182 Case3 17 61601728 A T KCNH6 missense_variant+splice_region_variant MODERATE D102V ENST00000581784 58 14 72 0.194444444444444 Case3 17 61601727 G T KCNH6 missense_variant MODERATE D102Y ENST00000581784 57 14 71 0.197183098591549 Case3 17 30195103 C G UTP6 missense_variant MODERATE D509H ENST00000261708 52 10 62 0.161290322580645 Case3 4 85626651 G C WDFY3 missense_variant MODERATE T2744S ENST00000295888 89 5 94 0.053191489361702 Case3 4 90816130 G A MMRN1 missense_variant MODERATE G3E ENST00000394980 83 5 88 0.056818181818182 Case3 4 109895690 T G COL25A1 missense_variant+splice_region_variant MODERATE K155T ENST00000399132 49 41 90 0.455555555555556 Case3 5 90050865 C A ADGRV1 missense_variant MODERATE H3815N ENST00000405460 59 36 95 0.378947368421053 Case3 6 51924782 G T PKHD1 missense_variant MODERATE Q393K ENST00000371117 36 36 72 0.5 Case3 6 116277675 C A FRK missense_variant MODERATE D300Y ENST00000368626 83 4 87 0.045977011494253 Case3 3 195511076 T A MUC4 missense_variant MODERATE T2459S ENST00000463781 118 12 130 0.092307692307692 Case3 X 34148844 G C FAM47A missense_variant MODERATE R518G ENST00000346193 30 6 36 0.166666666666667 Case3 1 977407 G A AGRN missense_variant MODERATE D417N ENST00000379370 26 27 53 0.509433962264151 Case3 X 48895943 T C TFE3 missense_variant MODERATE T187A ENST00000315869 24 31 55 0.563636363636364 Case3 X 34148882 C T FAM47A missense_variant MODERATE R505H ENST00000346193 31 9 40 0.225 Case3 20 16478308 AGTC A KIF16B inframe_deletion MODERATE D397 ENST00000408042 72 20 92 0.217391304347826 Case3 19 16232567 GC G RAB8A frameshift_variant HIGH A65 ENST00000300935 99 7 106 0.066037735849057 Case3 19 1467224 CGGGGGCG C APC2 frameshift_variant HIGH GGA1309 ENST00000535453 61 22 83 0.265060240963855 Case3 1 156552025 C A TTC24 missense_variant+splice_region_variant MODERATE H237N ENST00000368237 28 33 61 0.540983606557377 Case3 9 128124956 GGA G GAPVD1 frameshift_variant HIGH E1466 ENST00000394105 58 23 81 0.283950617283951 Case3 8 38005877 CCTT C STAR splice_acceptor_variant+splice_region_variant+intron_variant HIGH ENST00000521236 24 23 47 0.48936170212766 Case3 7 128587362 CGCCCACTCTGCGGCCGCCTACTCTGCAGCC C IRF5 disruptive_inframe_deletion MODERATE PPTLRPPTLQP171P ENST00000402030 49 0 49 0 Case3 12 66531936 TA T TMBIM4 frameshift_variant HIGH Y174 ENST00000358230 100 4 104 0.038461538461539 Case3 2 211473208 G C CPS1 missense_variant MODERATE K772N ENST00000233072 42 27 69 0.391304347826087 Case4 2 238449135 A G MLPH missense_variant MODERATE R417G ENST00000264605 25 16 41 0.390243902439024 Case4 20 49354499 G A PARD6B missense_variant MODERATE V58I ENST00000371610 75 14 89 0.157303370786517 Case4 22 19442271 C G UFD1 splice_donor_variant+intron_variant HIGH ENST00000263202 50 17 67 0.253731343283582 Case4 3 27436109 C G SLC4A7 missense_variant MODERATE G997A ENST00000295736 41 16 57 0.280701754385965 Case4 3 47868909 G T DHX30 missense_variant MODERATE G66V ENST00000445061 16 48 64 0.75 Case4 4 119154182 A T NDST3 missense_variant MODERATE Y612F ENST00000296499 91 21 112 0.1875 Case4 4 134072764 G T PCDH10 missense_variant MODERATE R490L ENST00000264360 76 21 97 0.216494845360825 Case4 4 139964245 G A NOCT missense_variant MODERATE G70S ENST00000280614 27 28 55 0.509090909090909 Case4 5 156456723 C A HAVCR1 missense_variant MODERATE R361I ENST00000425854 114 23 137 0.167883211678832 Case4 6 43251881 G A TTBK1 missense_variant MODERATE A1135T ENST00000259750 34 12 46 0.260869565217391 Case4 6 157520015 C T ARID1B stop_gained HIGH Q1362* ENST00000346085 8 60 68 0.882352941176471 Case4 7 37780053 T G GPR141 missense_variant MODERATE L20V ENST00000447769 74 11 85 0.129411764705882 Case4 2 85836080 C G C2orf68 missense_variant MODERATE Q163H ENST00000306336 55 4 59 0.067796610169492 Case4 7 82997312 G T SEMA3E missense_variant MODERATE L640I ENST00000307792 90 36 126 0.285714285714286 Case4 7 147336222 C A CNTNAP2 missense_variant MODERATE S641Y ENST00000361727 78 27 105 0.257142857142857 Case4 8 71550818 A T LACTB2 missense_variant MODERATE L263H ENST00000276590 62 52 114 0.456140350877193 Case4 8 144776264 C T ZNF707 missense_variant MODERATE T227M ENST00000358656 23 24 47 0.51063829787234 Case4 9 131671133 G C LRRC8A missense_variant MODERATE D564H ENST00000372600 13 38 51 0.745098039215686 Case4 X 6451869 C T VCX3A missense_variant MODERATE V160M ENST00000381089 22 15 37 0.405405405405405 Case4 1 158436140 G GT OR10K1 frameshift_variant HIGH T264Y? ENST00000289451 20 48 68 0.705882352941176 Case4 10 135096587 TGCAGTTGGTGAACATGACGCACACAGACATGA T TUBGCP2 frameshift_variant HIGH LMSVCVMFTNC751 ENST00000252936 61 15 76 0.197368421052632 Case4 5 159776723 G A C1QTNF2 missense_variant MODERATE R149W ENST00000393975 61 47 108 0.435185185185185 Case4 19 47342819 A C AP2S1 missense_variant MODERATE I57S ENST00000263270 40 37 77 0.480519480519481 Case4 19 501786 C A MADCAM1 missense_variant MODERATE P262Q ENST00000215637 46 19 65 0.292307692307692 Case4 19 17439500 C T ANO8 missense_variant MODERATE R566Q ENST00000159087 54 9 63 0.142857142857143 Case4 1 16386495 C T FAM131C missense_variant MODERATE R107Q ENST00000375662 3 14 17 0.823529411764706 Case4 1 31230541 G A LAPTM5 missense_variant MODERATE R18C ENST00000294507 9 38 47 0.808510638297872 Case4 1 43649457 G C CFAP57 missense_variant MODERATE E224Q ENST00000528956 22 48 70 0.685714285714286 Case4 1 236761236 C G HEATR1 missense_variant MODERATE C182S ENST00000366582 44 26 70 0.371428571428571 Case4 1 248525100 G A OR2T4 missense_variant MODERATE G73E ENST00000366475 61 9 70 0.128571428571429 Case4 10 372974 C A DIP2C missense_variant MODERATE C1299F ENST00000280886 67 17 84 0.202380952380952 Case4 10 25145841 C T PRTFDC1 splice_donor_variant+intron_variant HIGH ENST00000320152 61 38 99 0.383838383838384 Case4 10 73610963 G A PSAP missense_variant MODERATE L6F ENST00000394936 41 29 70 0.414285714285714 Case4 10 135270786 G A SCART1 missense_variant MODERATE G130D ENST00000333815 99 18 117 0.153846153846154 Case4 11 1911721 C T PRR33 missense_variant MODERATE G32R ENST00000391480 11 2 13 0.153846153846154 Case4 19 44739502 A C ZNF227 missense_variant MODERATE N307H ENST00000313040 53 45 98 0.459183673469388 Case4 11 5510241 C T OR52D1 missense_variant MODERATE A102V ENST00000322641 47 22 69 0.318840579710145 Case4 12 21712099 C G GYS2 missense_variant MODERATE E412Q ENST00000261195 116 36 152 0.236842105263158 Case4 12 111158888 T C PPP1CC missense_variant MODERATE K322R ENST00000335007 96 22 118 0.186440677966102 Case4 13 32910860 G T BRCA2 stop_gained HIGH E790* ENST00000380152 145 23 168 0.136904761904762 Case4 13 70681407 C A KLHL1 missense_variant MODERATE G142V ENST00000377844 88 26 114 0.228070175438596 Case4 14 105412138 A G AHNAK2 missense_variant MODERATE L3217P ENST00000333244 32 10 42 0.238095238095238 Case4 14 105716908 C A BTBD6 missense_variant MODERATE Q453K ENST00000392554 63 19 82 0.231707317073171 Case4 15 80181593 C T MTHFS missense_variant MODERATE R74Q ENST00000258874 65 25 90 0.277777777777778 Case4 16 863458 C A PRR25 missense_variant MODERATE A269E ENST00000301698 37 32 69 0.463768115942029 Case4 19 9069507 G A MUC16 missense_variant MODERATE T5980I ENST00000397910 101 44 145 0.303448275862069 Case4 19 11096002 G C SMARCA4 missense_variant MODERATE Q92H ENST00000358026 61 18 79 0.227848101265823 Case4 11 8739332 T C ST5 missense_variant MODERATE M529V ENST00000534127 6 37 43 0.86046511627907 Case4 12 57553684 G T LRP1 missense_variant MODERATE K625N ENST00000243077 68 16 84 0.190476190476191 Case4 1 152187513 G A HRNR missense_variant MODERATE H2198Y ENST00000368801 119 8 127 0.062992125984252 Case5 12 101477570 G C ANO4 missense_variant MODERATE V469L ENST00000392979 46 19 65 0.292307692307692 Case5 3 119153643 G A TMEM39A missense_variant MODERATE A400V ENST00000319172 58 10 68 0.147058823529412 Case5 3 132403538 G C NPHP3 missense_variant MODERATE L1144V ENST00000337331 40 10 50 0.2 Case5 3 132403547 G T NPHP3 missense_variant MODERATE L1141M ENST00000337331 42 9 51 0.176470588235294 Case5 3 132403577 G A NPHP3 missense_variant MODERATE H1131Y ENST00000337331 41 15 56 0.267857142857143 Case5 3 195452645 G A MUC20 missense_variant MODERATE G220S ENST00000320736 103 14 117 0.11965811965812 Case5 5 179267959 C G MRNIP missense_variant+splice_region_variant MODERATE R150S ENST00000292586 15 24 39 0.615384615384615 Case5 6 100911274 G T SIM1 missense_variant MODERATE A24D ENST00000369208 16 16 32 0.5 Case5 8 48875381 G C MCM4 missense_variant MODERATE D187H ENST00000262105 45 27 72 0.375 Case5 21 46021138 T C KRTAP10-7 missense_variant MODERATE I206T ENST00000380102 57 12 69 0.173913043478261 Case5 8 56668803 C A TMEM68 missense_variant+splice_region_variant MODERATE G165W ENST00000334667 50 34 84 0.404761904761905 Case5 8 91029515 T G DECR1 missense_variant MODERATE L78R ENST00000220764 37 32 69 0.463768115942029 Case5 9 5080634 G T JAK2 missense_variant MODERATE R795S ENST00000381652 10 31 41 0.75609756097561 Case5 X 53114238 G T TSPYL2 missense_variant MODERATE W367L ENST00000375442 41 17 58 0.293103448275862 Case5 X 130678698 C A OR13H1 stop_gained HIGH Y217* ENST00000338616 42 15 57 0.263157894736842 Case5 1 1452609 CGGAGCCGTGCA C ATAD3A frameshift_variant HIGH GAVQ116 ENST00000378755 26 15 41 0.365853658536585 Case5 4 191003228 CT C DUX4L4 frameshift_variant HIGH A380 ENST00000538692 886 6 892 0.006726457399103 Case5 10 120354097 GCGCTCCTGGGAGCCCCAGAAC G PRLHR disruptive_inframe_deletion MODERATE EFWGSQER213D ENST00000369169 48 10 58 0.172413793103448 Case5 12 131306232 ACTTC A STX2 splice_donor_variant+disruptive_inframe_deletion+splice_region_variant+intron_variant HIGH GK68E ENST00000261653 20 27 47 0.574468085106383 Case5 8 75227430 C T JPH1 missense_variant MODERATE V269M ENST00000342232 74 12 86 0.13953488372093 Case5 2 242815166 G A RTP5 missense_variant MODERATE G487S ENST00000343216 32 17 49 0.346938775510204 Case5 1 150812131 CTGCATGGAAAGAAAGA C ARNT splice_acceptor_variant+splice_region_variant+intron_variant HIGH ENST00000358595 17 19 36 0.527777777777778 Case5 2 97784153 T G ANKRD36 missense_variant MODERATE F129V ENST00000461153 5 12 17 0.705882352941176 Case5 2 132289324 T G CCDC74A missense_variant MODERATE L211R ENST00000295171 9 46 55 0.836363636363636 Case5 1 196695653 G A CFH missense_variant MODERATE E643K ENST00000367429 27 5 32 0.15625 Case5 12 12940030 C T APOLD1 missense_variant MODERATE A95V ENST00000326765 43 48 91 0.527472527472527 Case5 12 13062019 T C GPRC5A missense_variant MODERATE V279A ENST00000014914 42 59 101 0.584158415841584 Case5 14 105419227 T G AHNAK2 missense_variant MODERATE D854A ENST00000333244 25 6 31 0.193548387096774 Case5 15 23609918 C A GOLGA8S missense_variant MODERATE N533K ENST00000562295 17 28 45 0.622222222222222 Case5 16 53922766 A T FTO missense_variant MODERATE Q381L ENST00000471389 65 17 82 0.207317073170732 Case5 17 7916478 C T GUCY2D missense_variant MODERATE T724M ENST00000254854 33 14 47 0.297872340425532 Case5 10 29822167 C T SVIL missense_variant MODERATE A377T ENST00000355867 42 14 56 0.25 Case5 18 12452320 C T SPIRE1 missense_variant MODERATE G649E ENST00000409402 25 25 50 0.5 Case5 19 7935116 T G PRR36 missense_variant MODERATE K1005T ENST00000539422 16 7 23 0.304347826086957 Case5 19 16980766 C A SIN3B missense_variant MODERATE R800S ENST00000379803 6 62 68 0.911764705882353 Case5 19 35836592 C G CD22 missense_variant MODERATE R766G ENST00000085219 53 13 66 0.196969696969697 Case5 19 50334648 C T MED25 missense_variant MODERATE P387L ENST00000312865 74 12 86 0.13953488372093 Case5 19 53644708 T C ZNF347 missense_variant MODERATE K458R ENST00000334197 69 23 92 0.25 Case5 2 37255123 C T HEATR5B missense_variant MODERATE D1266N ENST00000233099 11 49 60 0.816666666666667 Case5 17 8638562 C G CCDC42 missense_variant MODERATE W242S ENST00000293845 6 53 59 0.898305084745763 Case5 2 97784135 A G ANKRD36 missense_variant MODERATE N123D ENST00000461153 4 13 17 0.764705882352941 Case5 11 66357943 G C CCDC87 missense_variant MODERATE S848R ENST00000333861 77 6 83 0.072289156626506 Case6 11 94278197 C A FUT4 missense_variant MODERATE P300T ENST00000358752 61 8 69 0.115942028985507 Case6 12 32687391 G T FGD4 missense_variant MODERATE R17I ENST00000525053 132 10 142 0.070422535211268 Case6 12 45429859 A T DBX2 missense_variant MODERATE Y148N ENST00000332700 103 16 119 0.134453781512605 Case6 12 56075780 C A METTL7B missense_variant MODERATE T81N ENST00000394252 129 18 147 0.122448979591837 Case6 12 72956634 C A TRHDE missense_variant+splice_region_variant MODERATE A574D ENST00000261180 141 17 158 0.107594936708861 Case6 12 104487342 G A HCFC2 splice_donor_variant+intron_variant HIGH ENST00000229330 116 22 138 0.159420289855072 Case6 14 44976077 T A FSCB missense_variant MODERATE K38N ENST00000340446 132 10 142 0.070422535211268 Case6 14 21990361 G T SALL2 missense_variant MODERATE P135T ENST00000538754 112 7 119 0.058823529411765 Case6 14 23467644 G A C14orf93 missense_variant MODERATE L197F ENST00000299088 112 10 122 0.081967213114754 Case6 14 57270978 C A OTX2 missense_variant MODERATE K59N ENST00000408990 125 11 136 0.080882352941177 Case6 14 57270979 T A OTX2 missense_variant MODERATE K59M ENST00000408990 123 11 134 0.082089552238806 Case6 14 102472490 T C DYNC1H1 missense_variant MODERATE L1900P ENST00000360184 130 20 150 0.133333333333333 Case6 11 57076356 C T TNKS1BP1 missense_variant MODERATE G1277R ENST00000358252 88 8 96 0.083333333333333 Case6 14 102718332 C T MOK missense_variant+splice_region_variant MODERATE G95E ENST00000361847 126 11 137 0.08029197080292 Case6 13 24465717 A G C1QTNF9B missense_variant MODERATE V238A ENST00000382140 5 21 26 0.807692307692308 Case6 11 26581325 G A ANO3 stop_gained+splice_region_variant HIGH W482* ENST00000256737 56 13 69 0.188405797101449 Case6 1 160054601 T G KCNJ9 missense_variant MODERATE S261A ENST00000368088 85 77 162 0.475308641975309 Case6 10 133106522 C A TCERG1L missense_variant MODERATE A208S ENST00000368642 75 6 81 0.074074074074074 Case6 14 105222998 A G SIVA1 missense_variant MODERATE K124R ENST00000329967 115 17 132 0.128787878787879 Case6 8 113364658 C A CSMD3 missense_variant MODERATE G2081V ENST00000297405 62 5 67 0.074626865671642 Case6 1 2938807 G A ACTRT2 missense_variant MODERATE G186D ENST00000378404 50 12 62 0.193548387096774 Case6 1 41007340 C G ZNF684 missense_variant MODERATE P66A ENST00000372699 63 9 72 0.125 Case6 1 52403030 C T RAB3B missense_variant MODERATE A95T ENST00000371655 67 5 72 0.069444444444445 Case6 1 109242549 G T PRPF38B missense_variant MODERATE K516N ENST00000370025 68 5 73 0.068493150684932 Case6 1 152882400 C T IVL missense_variant MODERATE P43S ENST00000368764 117 15 132 0.113636363636364 Case6 11 8498299 C T STK33 splice_acceptor_variant+intron_variant HIGH ENST00000431279 69 6 75 0.08 Case6 1 152975662 C A SPRR3 missense_variant MODERATE P56T ENST00000295367 111 8 119 0.067226890756303 Case6 1 192129535 G A RGS18 stop_gained HIGH W83* ENST00000367460 129 11 140 0.078571428571429 Case6 1 201181540 G A IGFN1 missense_variant MODERATE G2507R ENST00000335211 116 7 123 0.056910569105691 Case6 10 14885847 G A HSPA14 missense_variant MODERATE G258D ENST00000309584 77 7 84 0.083333333333333 Case6 10 99006078 C G ARHGAP19 missense_variant MODERATE R315P ENST00000358531 83 15 98 0.153061224489796 Case6 10 101577205 G T ABCC2 missense_variant MODERATE M745I ENST00000370449 82 7 89 0.078651685393259 Case6 10 105147923 C G TAF5 missense_variant MODERATE H782Q ENST00000369839 65 17 82 0.207317073170732 Case6 10 115608838 C A DCLRE1A missense_variant MODERATE A676S ENST00000369305 84 6 90 0.066666666666667 Case6 1 157737066 C A FCRL2 missense_variant MODERATE G373C ENST00000361516 132 13 145 0.089655172413793 Case6 15 36946297 A T C15orf41 splice_acceptor_variant+intron_variant HIGH ENST00000566621 117 21 138 0.152173913043478 Case6 9 32418132 C A ACO1 missense_variant MODERATE D137E ENST00000309951 98 6 104 0.057692307692308 Case6 16 30544395 C T ZNF747 missense_variant MODERATE G140R ENST00000568028 43 57 100 0.57 Case6 7 92764990 C T SAMD9L missense_variant MODERATE E99K ENST00000318238 137 18 155 0.116129032258065 Case6 7 92732874 C T SAMD9 missense_variant MODERATE R846K ENST00000379958 102 19 121 0.15702479338843 Case6 7 48311999 G T ABCA13 missense_variant MODERATE Q912H ENST00000435803 93 5 98 0.051020408163265 Case6 6 76715049 C A IMPG1 stop_gained HIGH E364* ENST00000369950 111 16 127 0.125984251968504 Case6 6 46827128 A C ADGRF5 missense_variant MODERATE S838A ENST00000265417 87 13 100 0.13 Case6 6 30139825 G A TRIM15 missense_variant MODERATE G366E ENST00000376694 79 9 88 0.102272727272727 Case6 6 17764372 T A KIF13A missense_variant MODERATE E1796V ENST00000259711 104 6 110 0.054545454545455 Case6 7 100683020 G C MUC17 missense_variant MODERATE A2775P ENST00000306151 115 12 127 0.094488188976378 Case6 6 7590604 G A SNRNP48 stop_gained HIGH W38* ENST00000342415 75 12 87 0.137931034482759 Case6 5 141980299 C G FGF1 missense_variant MODERATE A81P ENST00000359370 86 16 102 0.156862745098039 Case6 5 140554097 G T PCDHB7 missense_variant MODERATE V561L ENST00000231137 100 34 134 0.253731343283582 Case6 5 100147716 C A ST8SIA4 missense_variant MODERATE K305N ENST00000231461 108 9 117 0.076923076923077 Case6 5 13931329 C G DNAH5 missense_variant MODERATE A28P ENST00000265104 62 56 118 0.474576271186441 Case6 4 158224926 T G GRIA2 missense_variant MODERATE L151R ENST00000296526 10 76 86 0.883720930232558 Case6 4 126373498 C T FAT4 missense_variant MODERATE P3776L ENST00000394329 62 19 81 0.234567901234568 Case6 4 126371191 C T FAT4 missense_variant MODERATE A3007V ENST00000394329 68 6 74 0.081081081081081 Case6 5 147258405 C G SCGB3A2 missense_variant MODERATE S13R ENST00000296694 126 13 139 0.093525179856115 Case6 4 126371190 G T FAT4 missense_variant MODERATE A3007S ENST00000394329 67 7 74 0.094594594594595 Case6 7 111982642 A G ZNF277 missense_variant MODERATE D404G ENST00000361822 134 13 147 0.08843537414966 Case6 7 142640639 G C KEL missense_variant MODERATE S546C ENST00000355265 89 34 123 0.276422764227642 Case6 9 90499538 A T SPATA31E1 missense_variant MODERATE T133S ENST00000325643 80 14 94 0.148936170212766 Case6 16 1488827 C T CCDC154 missense_variant MODERATE G154R ENST00000409671 85 8 93 0.086021505376344 Case6 9 96318664 A G FAM120A missense_variant+splice_region_variant MODERATE I759V ENST00000277165 100 10 110 0.090909090909091 Case6 9 100204004 G A TDRD7 missense_variant MODERATE M234I ENST00000355295 96 16 112 0.142857142857143 Case6 X 39932050 C G BCOR missense_variant MODERATE R850P ENST00000342274 72 11 83 0.132530120481928 Case6 X 39932051 G T BCOR missense_variant MODERATE R850S ENST00000342274 73 10 83 0.120481927710843 Case6 X 48849880 C A GRIPAP1 missense_variant MODERATE R139S ENST00000376441 181 18 199 0.090452261306533 Case6 7 141803150 G A MGAM missense_variant MODERATE G1803R ENST00000549489 115 19 134 0.141791044776119 Case6 X 65427971 G A HEPH missense_variant MODERATE G870S ENST00000519389 100 12 112 0.107142857142857 Case6 2 220379536 CG C ASIC4 frameshift_variant HIGH G158 ENST00000347842 55 49 104 0.471153846153846 Case6 3 118909899 AC A UPK1B frameshift_variant HIGH D139 ENST00000264234 66 14 80 0.175 Case6 11 108123577 TGTG T ATM inframe_deletion MODERATE V613 ENST00000278616 14 89 103 0.864077669902913 Case6 16 87678044 GC G JPH3 frameshift_variant HIGH S188 ENST00000284262 72 48 120 0.4 Case6 20 34282772 CTGCACTCCA C NFS1 disruptive_inframe_deletion MODERATE AGVQ145A ENST00000306750 74 22 96 0.229166666666667 Case6 X 64737929 TTCTCGG T LAS1L disruptive_inframe_deletion MODERATE AEN561D ENST00000374804 81 40 121 0.330578512396694 Case6 8 8559924 G C CLDN23 missense_variant MODERATE V6L ENST00000519106 62 17 79 0.215189873417722 Case6 X 70823840 G A GCNA missense_variant MODERATE S238N ENST00000373696 91 8 99 0.080808080808081 Case6 4 74351649 G T AFM missense_variant MODERATE C114F ENST00000226355 48 24 72 0.333333333333333 Case6 X 3030356 G T ARSF missense_variant MODERATE R511M ENST00000381127 56 12 68 0.176470588235294 Case6 3 170002299 G A PRKCI missense_variant MODERATE G373E ENST00000295797 70 19 89 0.213483146067416 Case6 19 53787692 C T FAM90A27P missense_variant MODERATE P292L ENST00000338885 93 15 108 0.138888888888889 Case6 19 22497318 G A ZNF729 missense_variant MODERATE E367K ENST00000357491 126 14 140 0.1 Case6 19 22363861 T C ZNF676 missense_variant MODERATE T220A ENST00000397121 124 9 133 0.067669172932331 Case6 19 21990983 C T ZNF43 missense_variant MODERATE G619E ENST00000354959 132 12 144 0.083333333333333 Case6 19 11942935 A T ZNF440 missense_variant MODERATE K315M ENST00000304060 125 18 143 0.125874125874126 Case6 19 9048573 C A MUC16 missense_variant MODERATE A11020S ENST00000397910 86 65 151 0.43046357615894 Case6 19 8140211 C A FBN3 missense_variant MODERATE C2513F ENST00000270509 80 78 158 0.493670886075949 Case6 19 3527768 G A FZR1 missense_variant MODERATE G204R ENST00000441788 130 9 139 0.064748201438849 Case6 18 76752449 C A SALL3 missense_variant MODERATE A153E ENST00000537592 56 17 73 0.232876712328767 Case6 17 78222001 G A SLC26A11 missense_variant MODERATE G456E ENST00000361193 69 5 74 0.067567567567568 Case6 17 48186651 G T PDK2 missense_variant+splice_region_variant MODERATE A324S ENST00000503176 77 7 84 0.083333333333333 Case6 17 48165207 G A ITGA3 missense_variant MODERATE G1007R ENST00000320031 60 8 68 0.117647058823529 Case6 17 40342231 C T GHDC missense_variant MODERATE R449K ENST00000587427 82 5 87 0.057471264367816 Case6 17 34948585 A G DHRS11 missense_variant+splice_region_variant MODERATE E49G ENST00000251312 66 15 81 0.185185185185185 Case6 3 195513395 G T MUC4 missense_variant MODERATE L1686I ENST00000463781 55 8 63 0.126984126984127 Case6 19 58500038 C T ZNF606 missense_variant MODERATE G77R ENST00000341164 116 14 130 0.107692307692308 Case6 2 55785984 T A PPP4R3B missense_variant MODERATE Q709L ENST00000272313 41 13 54 0.240740740740741 Case6 17 35557101 T A ACACA missense_variant MODERATE E1380V ENST00000353139 72 13 85 0.152941176470588 Case6 2 96646450 C T ANKRD36C missense_variant MODERATE R226Q ENST00000456556 79 71 150 0.473333333333333 Case6 16 54967130 G C IRX5 missense_variant MODERATE G266A ENST00000394636 57 32 89 0.359550561797753 Case6 2 96646448 C G ANKRD36C missense_variant MODERATE D227H ENST00000456556 79 73 152 0.480263157894737 Case6 3 138738993 G A PRR23B missense_variant MODERATE P171S ENST00000329447 54 8 62 0.129032258064516 Case6 3 114058199 T C ZBTB20 missense_variant MODERATE T554A ENST00000481632 64 5 69 0.072463768115942 Case6 3 62477120 G T CADPS missense_variant MODERATE Q984K ENST00000283269 8 83 91 0.912087912087912 Case6 3 41266136 T C CTNNB1 missense_variant MODERATE S45P ENST00000349496 5 70 75 0.933333333333333 Case6 3 15677138 G C BTD missense_variant MODERATE E84D ENST00000303498 68 6 74 0.081081081081081 Case6 22 51042670 C T MAPK8IP2 missense_variant MODERATE R49C ENST00000399912 128 9 137 0.065693430656934 Case6 16 71317641 T A CMTR2 missense_variant MODERATE E728V ENST00000338099 116 8 124 0.064516129032258 Case6 22 19130371 C G DGCR14 missense_variant MODERATE D58H ENST00000252137 101 18 119 0.151260504201681 Case6 21 46117307 G C KRTAP10-12 missense_variant MODERATE R64P ENST00000400365 105 7 112 0.0625 Case6 21 34997024 C A CRYZL1 missense_variant MODERATE V37F ENST00000381554 115 13 128 0.1015625 Case6 20 62076630 C T KCNQ2 missense_variant MODERATE G159R ENST00000357249 112 6 118 0.050847457627119 Case6 20 419354 C T TBC1D20 missense_variant MODERATE R363K ENST00000354200 119 13 132 0.098484848484849 Case6 22 26773701 C G SEZ6L missense_variant MODERATE T1001S ENST00000404234 59 65 124 0.524193548387097 Case6 2 210558407 C A MAP2 missense_variant MODERATE Q505K ENST00000360351 102 18 120 0.15 Case6 2 96646463 C G ANKRD36C missense_variant MODERATE D222H ENST00000456556 81 71 152 0.467105263157895 Case6 2 189873702 C A COL3A1 missense_variant MODERATE P1193H ENST00000304636 116 10 126 0.079365079365079 Case6 X 127185300 C T ACTRT1 missense_variant MODERATE A296T ENST00000371124 30 43 73 0.589041095890411 Case7 X 131348378 T A RAP2C stop_gained HIGH R124* ENST00000342983 71 47 118 0.398305084745763 Case7 X 150908083 C T CNGA2 stop_gained HIGH R85* ENST00000329903 68 25 93 0.268817204301075 Case7 X 152822462 C T ATP2B3 missense_variant MODERATE A805V ENST00000263519 38 49 87 0.563218390804598 Case7 X 153171297 C T AVPR2 missense_variant MODERATE R113W ENST00000337474 59 26 85 0.305882352941176 Case7 X 153197865 C T NAA10 missense_variant MODERATE R82Q ENST00000464845 32 44 76 0.578947368421053 Case7 1 10702247 AG A CASZ1 frameshift_variant HIGH L196 ENST00000447850 30 13 43 0.302325581395349 Case7 1 9786980 TG T PIK3CD frameshift_variant HIGH L1004 ENST00000377346 34 21 55 0.381818181818182 Case7 1 24078021 TGAA T ELOA inframe_deletion MODERATE LK335L ENST00000418390 19 46 65 0.707692307692308 Case7 1 24078403 TA T ELOA frameshift_variant HIGH K463 ENST00000418390 16 56 72 0.777777777777778 Case7 1 27877504 C CG AHDC1 frameshift_variant HIGH P374P? ENST00000374011 48 18 66 0.272727272727273 Case7 1 33836633 CG C PHC2 frameshift_variant HIGH P132 ENST00000257118 8 49 57 0.859649122807017 Case7 1 35370730 AC A DLGAP3 frameshift_variant HIGH G85 ENST00000373347 35 21 56 0.375 Case7 1 67220389 G GA TCTEX1D1 frameshift_variant HIGH K17K? ENST00000282670 19 67 86 0.779069767441861 Case7 1 3418423 AG A MEGF6 frameshift_variant HIGH P750 ENST00000356575 37 22 59 0.372881355932203 Case7 X 104961395 G A IL1RAPL2 missense_variant MODERATE G270R ENST00000372582 60 30 90 0.333333333333333 Case7 X 70776894 G A OGT missense_variant MODERATE R420H ENST00000373719 76 66 142 0.464788732394366 Case7 X 76829806 G A ATRX stop_gained HIGH R2079* ENST00000373344 49 69 118 0.584745762711864 Case7 9 139740416 G A C9orf172 missense_variant MODERATE G517D ENST00000436881 84 28 112 0.25 Case7 9 140357963 G A PNPLA7 missense_variant MODERATE R1083C ENST00000406427 79 23 102 0.225490196078431 Case7 1 74575212 G GT LRRIQ3 frameshift_variant HIGH K244K? ENST00000354431 49 20 69 0.289855072463768 Case7 X 2931115 G A ARSH missense_variant MODERATE R81H ENST00000381130 57 48 105 0.457142857142857 Case7 X 6451959 C T VCX3A missense_variant MODERATE V130M ENST00000381089 92 10 102 0.098039215686275 Case7 X 8434071 G A VCX3B splice_donor_variant+intron_variant HIGH ENST00000444481 68 16 84 0.190476190476191 Case7 X 10176373 G C CLCN4 missense_variant MODERATE A378P ENST00000380833 99 27 126 0.214285714285714 Case7 X 11157515 C T ARHGAP6 missense_variant MODERATE R798Q ENST00000337414 74 57 131 0.435114503816794 Case7 X 14027054 G A GEMIN8 missense_variant MODERATE P236L ENST00000380523 62 53 115 0.460869565217391 Case7 X 37026638 C T FAM47C missense_variant MODERATE T52M ENST00000358047 123 24 147 0.163265306122449 Case7 X 47486268 G A CFP missense_variant MODERATE R282W ENST00000247153 63 48 111 0.432432432432432 Case7 X 48973510 C A GPKOW missense_variant MODERATE G263C ENST00000156109 42 46 88 0.522727272727273 Case7 X 70444098 G A GJB1 missense_variant MODERATE V181M ENST00000374022 45 39 84 0.464285714285714 Case7 X 70470020 C T ZMYM3 missense_variant MODERATE R273H ENST00000373978 109 19 128 0.1484375 Case7 X 70781712 C T OGT stop_gained HIGH R647* ENST00000373719 104 22 126 0.174603174603175 Case7 X 84510752 A T ZNF711 missense_variant MODERATE E189D ENST00000360700 35 81 116 0.698275862068966 Case7 X 44101434 G A EFHC2 missense_variant MODERATE R433C ENST00000420999 70 60 130 0.461538461538462 Case7 2 220074335 GA G ZFAND2B frameshift_variant HIGH K150 ENST00000425849 41 19 60 0.316666666666667 Case7 1 153660560 GC G NPR1 frameshift_variant HIGH P761 ENST00000368680 30 28 58 0.482758620689655 Case7 3 99568272 GT G FILIP1L frameshift_variant HIGH K749 ENST00000354552 18 44 62 0.709677419354839 Case7 3 113380089 AT A USF3 frameshift_variant HIGH I147 ENST00000316407 13 52 65 0.8 Case7 3 118623579 C CA IGSF11 frameshift_variant HIGH C257L? ENST00000393775 37 27 64 0.421875 Case7 3 121351315 G GGGCTCAGGCTCAGGCTCA HCLS1 disruptive_inframe_insertion MODERATE P368PEPEPEP ENST00000314583 49 17 66 0.257575757575758 Case7 3 121643200 GT G SLC15A2 frameshift_variant HIGH F336 ENST00000489711 46 27 73 0.36986301369863 Case7 3 130733046 CT C ASTE1 frameshift_variant HIGH R657 ENST00000514044 27 52 79 0.658227848101266 Case7 3 149260289 TG T WWTR1 frameshift_variant HIGH P201 ENST00000465804 10 66 76 0.868421052631579 Case7 3 168833256 CT C MECOM frameshift_variant HIGH K678 ENST00000264674 62 24 86 0.279069767441861 Case7 3 195512597 G GGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGA MUC4 inframe_insertion MODERATE T1951TSLPVTDASSVSTGHATSLPVTIPSSASSGHTT ENST00000463781 221 0 221 0 Case7 4 3430398 GA G RGS12 frameshift_variant HIGH K1176 ENST00000344733 15 59 74 0.797297297297297 Case7 4 107252831 GAGA G AIMP1 inframe_deletion MODERATE EK156E ENST00000394701 26 44 70 0.628571428571429 Case7 4 190864392 GAGA G FRG1 disruptive_inframe_deletion MODERATE RE33R ENST00000226798 25 49 74 0.662162162162162 Case7 9 138379018 G A PPP1R26 missense_variant MODERATE V888M ENST00000356818 73 53 126 0.420634920634921 Case7 5 14487780 AC A TRIO frameshift_variant HIGH H2348 ENST00000344204 62 43 105 0.40952380952381 Case7 5 37182874 AT A C5orf42 frameshift_variant HIGH N1803 ENST00000425232 80 55 135 0.407407407407407 Case7 3 89468397 CA C EPHA3 frameshift_variant HIGH S644 ENST00000336596 11 60 71 0.845070422535211 Case7 1 94670627 CT C ARHGAP29 frameshift_variant HIGH K229 ENST00000260526 46 33 79 0.417721518987342 Case7 3 45785086 AT A SACM1L frameshift_variant HIGH F564 ENST00000389061 18 76 94 0.808510638297872 Case7 3 37370518 TA T GOLGA4 frameshift_variant HIGH K2065 ENST00000356847 32 29 61 0.475409836065574 Case7 1 159904031 TG T IGSF9 frameshift_variant HIGH P351 ENST00000368094 35 27 62 0.435483870967742 Case7 1 204587828 TG T LRRN2 frameshift_variant HIGH P431 ENST00000367175 7 39 46 0.847826086956522 Case7 1 214178555 GT G PROX1 frameshift_variant HIGH F592 ENST00000366958 42 27 69 0.391304347826087 Case7 1 226836446 GT G ITPKB frameshift_variant HIGH N653 ENST00000429204 45 27 72 0.375 Case7 1 245006416 ATAT A COX20 disruptive_inframe_deletion MODERATE IL111I ENST00000366528 16 61 77 0.792207792207792 Case7 2 17898125 AT A SMC6 frameshift_variant HIGH I410 ENST00000448223 53 42 95 0.442105263157895 Case7 2 27248516 GC G MAPRE3 frameshift_variant HIGH A179 ENST00000233121 24 52 76 0.68421052631579 Case7 2 38178782 AT A RMDN2 frameshift_variant HIGH I142 ENST00000234195 39 30 69 0.434782608695652 Case7 2 113258798 TCTC T TTL disruptive_inframe_deletion MODERATE IS162I ENST00000233336 14 58 72 0.805555555555556 Case7 2 132287742 AAGC A CCDC74A disruptive_inframe_deletion MODERATE S65 ENST00000467992 10 42 52 0.807692307692308 Case7 2 165551295 CA C COBLL1 frameshift_variant HIGH L907 ENST00000342193 37 16 53 0.30188679245283 Case7 2 170929937 GGAA G UBR3 inframe_deletion MODERATE E1674 ENST00000418381 58 26 84 0.30952380952381 Case7 2 197531518 C CA CCDC150 frameshift_variant HIGH Q280Q? ENST00000389175 28 50 78 0.641025641025641 Case7 2 203054919 TA T KIAA2012 frameshift_variant HIGH K422 ENST00000498697 23 48 71 0.676056338028169 Case7 3 20212215 CT C SGO1 frameshift_variant+splice_region_variant HIGH R522 ENST00000263753 32 27 59 0.457627118644068 Case7 3 40574561 CCTT C ZNF621 inframe_deletion MODERATE PS434P ENST00000339296 16 46 62 0.741935483870968 Case7 9 137716531 A G COL5A1 missense_variant MODERATE D1595G ENST00000371817 99 32 131 0.244274809160305 Case7 7 92731381 A T SAMD9 missense_variant MODERATE F1344I ENST00000379958 92 25 117 0.213675213675214 Case7 9 126217043 T A DENND1A missense_variant MODERATE Y401F ENST00000373624 98 20 118 0.169491525423729 Case7 6 130340609 G A L3MBTL3 splice_donor_variant+intron_variant HIGH ENST00000528385 16 56 72 0.777777777777778 Case7 6 139487462 C T HECA missense_variant MODERATE P105S ENST00000367658 44 24 68 0.352941176470588 Case7 6 152614758 C T SYNE1 missense_variant MODERATE G5993S ENST00000367255 43 31 74 0.418918918918919 Case7 6 159028297 C T TMEM181 missense_variant MODERATE R336W ENST00000367090 5 62 67 0.925373134328358 Case7 6 167550613 A T CCR6 missense_variant MODERATE T299S ENST00000341935 42 25 67 0.373134328358209 Case7 7 1785560 G A ELFN1 missense_variant MODERATE R443Q ENST00000424383 63 65 128 0.5078125 Case7 6 44122555 G A TMEM63B missense_variant MODERATE A812T ENST00000259746 32 21 53 0.39622641509434 Case7 7 30490941 C T NOD1 missense_variant MODERATE V698I ENST00000222823 74 37 111 0.333333333333333 Case7 7 35674841 G A HERPUD2 missense_variant MODERATE T282M ENST00000396081 96 18 114 0.157894736842105 Case7 7 43594284 C T HECW1 missense_variant MODERATE T1535M ENST00000395891 62 59 121 0.487603305785124 Case7 7 45007320 G A MYO1G missense_variant MODERATE R556W ENST00000258787 63 50 113 0.442477876106195 Case7 7 65439297 G A GUSB missense_variant MODERATE A459V ENST00000304895 58 40 98 0.408163265306122 Case7 7 70231230 C A AUTS2 missense_variant MODERATE H533Q ENST00000342771 125 50 175 0.285714285714286 Case7 7 72988772 G A TBL2 missense_variant MODERATE R68W ENST00000305632 94 25 119 0.210084033613445 Case7 7 30911863 G A MINDY4 missense_variant MODERATE R584H ENST00000265299 106 34 140 0.242857142857143 Case7 6 43308009 A G ZNF318 missense_variant MODERATE S1243P ENST00000361428 38 27 65 0.415384615384615 Case7 6 43230855 C T TTBK1 missense_variant MODERATE R585W ENST00000259750 14 58 72 0.805555555555556 Case7 6 32825134 G A PSMB9 missense_variant MODERATE V75M ENST00000374859 13 52 65 0.8 Case7 5 140869549 C T PCDHGC5 missense_variant MODERATE R248C ENST00000252087 54 40 94 0.425531914893617 Case7 5 39202852 CAGA C FYB inframe_deletion MODERATE S70 ENST00000512982 83 41 124 0.330645161290323 Case7 5 141049619 G T ARAP3 missense_variant MODERATE L707I ENST00000239440 97 12 109 0.110091743119266 Case7 5 145858127 G A TCERG1 missense_variant MODERATE R558Q ENST00000296702 61 52 113 0.460176991150443 Case7 5 147469148 C T SPINK5 missense_variant MODERATE T189M ENST00000359874 75 61 136 0.448529411764706 Case7 5 150072784 C A RBM22 stop_gained HIGH G333* ENST00000199814 72 27 99 0.272727272727273 Case7 5 151183590 C T G3BP1 missense_variant MODERATE R447C ENST00000394123 54 55 109 0.504587155963303 Case7 5 168093688 G A SLIT3 missense_variant MODERATE P1455L ENST00000332966 54 36 90 0.4 Case7 5 177548865 G A N4BP3 missense_variant MODERATE V500M ENST00000274605 90 30 120 0.25 Case7 6 397187 C A IRF4 missense_variant MODERATE P191Q ENST00000380956 65 7 72 0.097222222222222 Case7 6 11190756 C T NEDD9 missense_variant MODERATE R449H ENST00000379446 15 54 69 0.782608695652174 Case7 6 13697072 C T RANBP9 missense_variant MODERATE A210T ENST00000011619 70 10 80 0.125 Case7 6 30672990 T G MDC1 missense_variant MODERATE T1324P ENST00000376406 55 5 60 0.083333333333333 Case7 6 31994859 T C C4B missense_variant MODERATE L851P ENST00000435363 22 12 34 0.352941176470588 Case7 6 32130593 C T PPT2 missense_variant MODERATE R265W ENST00000361568 16 44 60 0.733333333333333 Case7 7 73245752 C T CLDN4 missense_variant MODERATE P74L ENST00000435050 62 57 119 0.478991596638655 Case7 7 87743915 G A ADAM22 missense_variant MODERATE G164R ENST00000265727 113 26 139 0.18705035971223 Case7 7 92020547 G A ANKIB1 missense_variant MODERATE R707H ENST00000265742 67 36 103 0.349514563106796 Case7 7 92763468 T A SAMD9L missense_variant MODERATE N606I ENST00000318238 127 15 142 0.105633802816901 Case7 8 145163406 C T WDR97 missense_variant MODERATE A146V ENST00000323662 14 55 69 0.797101449275362 Case7 8 145267999 C T MROH1 missense_variant MODERATE T415M ENST00000423230 10 44 54 0.814814814814815 Case7 9 13247792 G A MPDZ missense_variant MODERATE R9W ENST00000319217 79 61 140 0.435714285714286 Case7 9 33255064 T C BAG1 stop_lost HIGH *197W ENST00000379700 64 49 113 0.433628318584071 Case7 9 34971425 C T PHF24 missense_variant MODERATE R44C ENST00000242315 84 21 105 0.2 Case7 9 34971557 G A PHF24 missense_variant MODERATE V88M ENST00000242315 46 55 101 0.544554455445545 Case7 9 35711662 G A TLN1 missense_variant MODERATE A1270V ENST00000314888 61 39 100 0.39 Case7 9 43816699 G A CNTNAP3B missense_variant MODERATE D317N ENST00000377561 130 53 183 0.289617486338798 Case7 9 75403254 G T TMC1 splice_acceptor_variant+intron_variant HIGH ENST00000297784 109 27 136 0.198529411764706 Case7 9 95078366 C G NOL8 missense_variant MODERATE D181H ENST00000545558 70 66 136 0.485294117647059 Case7 9 99800315 G A CTSV missense_variant MODERATE S4L ENST00000538255 75 39 114 0.342105263157895 Case7 9 103002432 G A INVS missense_variant MODERATE V236M ENST00000262457 96 11 107 0.102803738317757 Case7 9 109691618 G A ZNF462 missense_variant MODERATE A1809T ENST00000277225 56 56 112 0.5 Case7 9 124088928 G A GSN missense_variant MODERATE A570T ENST00000373818 56 47 103 0.45631067961165 Case7 9 126144522 G A DENND1A missense_variant MODERATE T740M ENST00000373624 56 59 115 0.51304347826087 Case7 8 41575201 T G ANK1 missense_variant MODERATE H442P ENST00000265709 7 57 64 0.890625 Case7 9 130578221 C T ENG splice_donor_variant+intron_variant HIGH ENST00000373203 73 53 126 0.420634920634921 Case7 8 41572522 C T ANK1 missense_variant MODERATE R591Q ENST00000265709 18 53 71 0.746478873239437 Case7 8 37692860 C T ADGRA2 missense_variant MODERATE R593C ENST00000412232 38 23 61 0.377049180327869 Case7 7 92764481 G C SAMD9L missense_variant MODERATE I268M ENST00000318238 117 30 147 0.204081632653061 Case7 7 99971323 C T PILRA missense_variant MODERATE P15L ENST00000198536 109 6 115 0.052173913043478 Case7 7 100061612 G A C7orf61 missense_variant MODERATE R13W ENST00000332375 68 30 98 0.306122448979592 Case7 7 120387737 G A KCND2 missense_variant+splice_region_variant MODERATE R573Q ENST00000331113 101 24 125 0.192 Case7 7 121758634 G A AASS missense_variant MODERATE H175Y ENST00000393376 79 56 135 0.414814814814815 Case7 7 139107028 C A LUC7L2 missense_variant MODERATE A374D ENST00000354926 58 53 111 0.477477477477478 Case7 7 139226789 G A CLEC2L missense_variant MODERATE R152Q ENST00000422142 82 28 110 0.254545454545454 Case7 7 147092736 G C CNTNAP2 missense_variant MODERATE V512L ENST00000361727 134 7 141 0.049645390070922 Case7 7 149172260 G A ZNF746 missense_variant MODERATE R385W ENST00000458143 89 62 151 0.410596026490066 Case7 7 150752435 G A CDK5 missense_variant MODERATE P170L ENST00000485972 49 50 99 0.505050505050505 Case7 7 158534467 G A ESYT2 missense_variant MODERATE P666S ENST00000251527 54 44 98 0.448979591836735 Case7 8 1874601 C A ARHGEF10 stop_gained HIGH S914* ENST00000518288 15 52 67 0.776119402985075 Case7 8 11295609 C T FAM167A-AS1 missense_variant MODERATE T33M ENST00000533578 9 51 60 0.85 Case7 8 12033337 C A FAM90A2P splice_acceptor_variant+intron_variant HIGH ENST00000511144 116 48 164 0.292682926829268 Case7 8 17794743 C T PCM1 missense_variant MODERATE P66L ENST00000325083 13 49 62 0.790322580645161 Case7 8 38258419 A G LETM2 missense_variant MODERATE K278E ENST00000379957 10 54 64 0.84375 Case7 5 61847114 GT G IPO11 frameshift_variant HIGH S844 ENST00000409296 108 19 127 0.149606299212598 Case7 12 120634651 T TGCA RPLP0 disruptive_inframe_insertion MODERATE A293AA ENST00000551150 87 18 105 0.171428571428571 Case7 5 65349318 T TA ERBB2IP frameshift_variant HIGH K725K? ENST00000506030 112 22 134 0.164179104477612 Case7 16 57208197 TTC T FAM192A splice_acceptor_variant+5_prime_UTR_variant+intron_variant HIGH ENST00000565760 27 43 70 0.614285714285714 Case7 16 58293811 GA G CCDC113 frameshift_variant HIGH K201 ENST00000219299 21 52 73 0.712328767123288 Case7 16 58577315 GAAA G CNOT1 inframe_deletion MODERATE F1543 ENST00000441024 16 42 58 0.724137931034483 Case7 16 77401594 A AT ADAMTS18 frameshift_variant HIGH N174K? ENST00000282849 21 46 67 0.686567164179104 Case7 17 4802306 GCCT G CHRNE disruptive_inframe_deletion MODERATE EA438A ENST00000293780 14 44 58 0.758620689655172 Case7 17 34937783 GA G GGNBP2 frameshift_variant HIGH E344 ENST00000304718 22 51 73 0.698630136986301 Case7 16 56602768 G GC MT4 frameshift_variant HIGH C38C? ENST00000219162 29 50 79 0.632911392405063 Case7 17 38911098 AT A KRT25 frameshift_variant HIGH N142 ENST00000312150 50 35 85 0.411764705882353 Case7 17 61432712 GAGA G TANC2 disruptive_inframe_deletion MODERATE RE774R ENST00000424789 21 54 75 0.72 Case7 18 8825191 GA G MTCL1 frameshift_variant HIGH G1228 ENST00000359865 36 41 77 0.532467532467532 Case7 19 1231091 G GA CBARP frameshift_variant HIGH S388F? ENST00000590083 74 50 124 0.403225806451613 Case7 19 2078278 GC G MOB3A frameshift_variant HIGH G94 ENST00000357066 62 52 114 0.456140350877193 Case7 19 2114132 CCTT C AP3D1 inframe_deletion MODERATE K864 ENST00000345016 70 40 110 0.363636363636364 Case7 19 3610715 AT A CACTIN frameshift_variant HIGH K851 ENST00000221899 69 56 125 0.448 Case7 17 43480132 G GC ARHGAP27 frameshift_variant HIGH A564G? ENST00000428638 45 11 56 0.196428571428571 Case7 16 4862228 GC G GLYR1 frameshift_variant HIGH G380 ENST00000321919 50 14 64 0.21875 Case7 15 52242178 CGTT C LEO1 disruptive_inframe_deletion MODERATE ER541G ENST00000299601 22 48 70 0.685714285714286 Case7 15 23021235 GC G NIPA2 frameshift_variant HIGH G34 ENST00000337451 46 26 72 0.361111111111111 Case7 12 121880091 C CG KDM2B frameshift_variant HIGH P1051P? ENST00000377071 68 39 107 0.364485981308411 Case7 12 123794282 AT A SBNO1 frameshift_variant HIGH N1139 ENST00000420886 104 22 126 0.174603174603175 Case7 12 133067312 GC G FBRSL1 frameshift_variant HIGH P53 ENST00000434748 60 46 106 0.433962264150943 Case7 13 46549846 ATCTC A ZC3H13 frameshift_variant HIGH RD679 ENST00000242848 97 20 117 0.170940170940171 Case7 13 49957036 AT A CAB39L frameshift_variant HIGH M4 ENST00000355854 87 63 150 0.42 Case7 13 73357633 CA C PIBF1 frameshift_variant HIGH S9 ENST00000326291 68 59 127 0.464566929133858 Case7 13 79918806 GT G RBM26 frameshift_variant HIGH K700 ENST00000267229 75 54 129 0.418604651162791 Case7 13 108518686 T TCTG FAM155A inframe_insertion MODERATE Q86QQ ENST00000375915 108 14 122 0.114754098360656 Case7 14 23790680 TGGC T PABPN1 disruptive_inframe_deletion MODERATE MA1M ENST00000216727 64 24 88 0.272727272727273 Case7 14 23996098 TG T ZFHX2 frameshift_variant HIGH P1073 ENST00000419474 10 56 66 0.848484848484848 Case7 14 24606746 AAAG A PSME1 inframe_deletion MODERATE K89 ENST00000382708 23 41 64 0.640625 Case7 14 35592699 A AT KIAA0391 frameshift_variant HIGH H83H? ENST00000534898 64 36 100 0.36 Case7 14 74205772 TG T ELMSAN1 frameshift_variant HIGH P313 ENST00000286523 17 50 67 0.746268656716418 Case7 14 75514603 CT C MLH3 frameshift_variant HIGH K585 ENST00000355774 21 49 70 0.7 Case7 14 94756285 TC T SERPINA10 frameshift_variant HIGH G215 ENST00000261994 22 45 67 0.671641791044776 Case7 19 8550545 CG C HNRNPM frameshift_variant HIGH G412 ENST00000325495 79 48 127 0.377952755905512 Case7 19 11577604 G GC ELAVL3 frameshift_variant HIGH G16G? ENST00000359227 91 25 116 0.21551724137931 Case7 19 14150576 GC G IL27RA frameshift_variant HIGH A130 ENST00000263379 94 25 119 0.210084033613445 Case7 19 18252771 AG A MAST3 frameshift_variant HIGH E733 ENST00000262811 87 30 117 0.256410256410256 Case7 X 9935531 AC A CLDN34 frameshift_variant HIGH Y47 ENST00000445307 70 57 127 0.448818897637795 Case7 X 16709694 ATCT A CTPS2 disruptive_inframe_deletion MODERATE KI229I ENST00000443824 112 20 132 0.151515151515152 Case7 X 44094659 C CA EFHC2 frameshift_variant HIGH F466F? ENST00000420999 64 55 119 0.46218487394958 Case7 X 48887951 TC T TFE3 frameshift_variant HIGH G482 ENST00000315869 60 41 101 0.405940594059406 Case7 X 56591873 GC G UBQLN2 frameshift_variant HIGH A523 ENST00000338222 75 46 121 0.380165289256198 Case7 X 66765148 T TTGC AR disruptive_inframe_insertion MODERATE L54LL ENST00000374690 106 17 123 0.138211382113821 Case7 X 70347746 CTT C MED12 frameshift_variant HIGH F996 ENST00000374080 67 58 125 0.464 Case7 X 76907781 TTCC T ATRX disruptive_inframe_deletion MODERATE EE1459E ENST00000373344 67 24 91 0.263736263736264 Case7 X 76920172 CT C ATRX frameshift_variant HIGH R1302 ENST00000373344 80 37 117 0.316239316239316 Case7 X 77528572 AT A CYSLTR1 frameshift_variant HIGH N224 ENST00000373304 49 51 100 0.51 Case7 X 80370462 CT C HMGN5 frameshift_variant HIGH K178 ENST00000358130 56 46 102 0.450980392156863 Case7 X 110987953 T TACC ALG13 disruptive_inframe_insertion MODERATE L918LP ENST00000394780 82 4 86 0.046511627906977 Case7 X 115303927 AT A AGTR2 frameshift_variant HIGH I132 ENST00000371906 39 52 91 0.571428571428571 Case7 X 137939822 AG A FGF13 frameshift_variant HIGH P23 ENST00000436198 63 25 88 0.284090909090909 Case7 5 140573503 G A PCDHB10 missense_variant MODERATE V460I ENST00000239446 54 49 103 0.475728155339806 Case7 22 50485708 A AT TTLL8 frameshift_variant HIGH N130K? ENST00000433387 50 14 64 0.21875 Case7 12 91572303 CAGA C DCN disruptive_inframe_deletion MODERATE LL8L ENST00000052754 58 47 105 0.447619047619048 Case7 21 45999954 AG A KRTAP10-5 frameshift_variant HIGH P167 ENST00000400372 76 48 124 0.387096774193548 Case7 20 57766219 G GC ZNF831 frameshift_variant HIGH A49A? ENST00000371030 49 48 97 0.494845360824742 Case7 19 19136393 AT A SUGP2 frameshift_variant HIGH I255 ENST00000452918 85 22 107 0.205607476635514 Case7 19 19308368 AC A RFXANK frameshift_variant HIGH T126 ENST00000303088 65 39 104 0.375 Case7 19 35842824 TG T FFAR1 frameshift_variant HIGH W124 ENST00000246553 76 24 100 0.24 Case7 19 35850622 ACTT A FFAR3 disruptive_inframe_deletion MODERATE YF277Y ENST00000327809 98 30 128 0.234375 Case7 19 38746892 GC G PPP1R14A frameshift_variant HIGH G29 ENST00000301242 46 60 106 0.566037735849057 Case7 19 38997481 AC A RYR1 frameshift_variant HIGH H2902 ENST00000359596 45 48 93 0.516129032258065 Case7 19 42400458 GC G ARHGEF1 frameshift_variant HIGH A357 ENST00000337665 26 49 75 0.653333333333333 Case7 19 48994757 C CG LMTK3 frameshift_variant HIGH P1406P? ENST00000270238 75 51 126 0.404761904761905 Case7 19 49002058 CG C LMTK3 frameshift_variant HIGH P785 ENST00000270238 77 30 107 0.280373831775701 Case7 19 49656857 T TTCC HRC disruptive_inframe_insertion MODERATE E546EE ENST00000252825 64 44 108 0.407407407407407 Case7 19 49850472 TG T TEAD2 frameshift_variant HIGH H295 ENST00000311227 75 24 99 0.242424242424242 Case7 19 50919865 AG A POLD1 splice_acceptor_variant+intron_variant HIGH ENST00000440232 79 55 134 0.41044776119403 Case7 19 53643875 G GT ZNF347 frameshift_variant HIGH K736K? ENST00000452676 74 48 122 0.39344262295082 Case7 19 53854934 TTCAG T ZNF845 frameshift_variant HIGH FS336 ENST00000458035 75 38 113 0.336283185840708 Case7 20 17597398 TG T RRBP1 frameshift_variant HIGH P849 ENST00000377807 55 52 107 0.485981308411215 Case7 21 45786735 CG C TRPM2 frameshift_variant HIGH G175 ENST00000397932 64 18 82 0.219512195121951 Case7 5 64865507 GA G PPWD1 frameshift_variant HIGH K117 ENST00000261308 85 67 152 0.44078947368421 Case7 12 85547514 G GA LRRIQ1 frameshift_variant HIGH E1539E? ENST00000393217 71 53 124 0.42741935483871 Case7 12 67663534 G GA CAND1 frameshift_variant HIGH E13E? ENST00000545606 98 29 127 0.228346456692913 Case7 7 7622997 G GA MIOS frameshift_variant+splice_region_variant HIGH E548E? ENST00000340080 95 48 143 0.335664335664336 Case7 7 8198250 GT G ICA1 frameshift_variant HIGH N204 ENST00000402384 115 23 138 0.166666666666667 Case7 7 12680082 TC T SCIN frameshift_variant HIGH P508 ENST00000297029 73 53 126 0.420634920634921 Case7 7 24910451 TTC T OSBPL3 frameshift_variant HIGH EK93 ENST00000313367 115 23 138 0.166666666666667 Case7 7 26224429 CAT C NFE2L3 frameshift_variant HIGH H371 ENST00000056233 103 25 128 0.1953125 Case7 7 45956915 TTGA T IGFBP3 disruptive_inframe_deletion MODERATE IK181K ENST00000381083 80 53 133 0.398496240601504 Case7 7 6196442 CA C USP42 frameshift_variant HIGH K1234 ENST00000306177 66 67 133 0.503759398496241 Case7 7 51287561 TG T COBL frameshift_variant HIGH H41 ENST00000395542 53 45 98 0.459183673469388 Case7 7 77256503 TCAAA T PTPN12 frameshift_variant HIGH SN503 ENST00000248594 126 21 147 0.142857142857143 Case7 7 91708402 G GA AKAP9 frameshift_variant HIGH E2319E? ENST00000356239 136 10 146 0.068493150684932 Case7 7 91936913 CA C ANKIB1 frameshift_variant HIGH K144 ENST00000265742 97 24 121 0.198347107438017 Case7 7 92146720 AT A PEX1 frameshift_variant HIGH I370 ENST00000248633 86 21 107 0.196261682242991 Case7 7 92147168 TTGAC T PEX1 frameshift_variant HIGH QS219 ENST00000248633 85 64 149 0.429530201342282 Case7 7 92735257 CT C SAMD9 frameshift_variant HIGH K51 ENST00000379958 81 56 137 0.408759124087591 Case7 7 76828962 TCGC T FGL2 stop_gained+disruptive_inframe_deletion HIGH CE49* ENST00000248598 66 53 119 0.445378151260504 Case7 6 159660872 AC A FNDC1 frameshift_variant HIGH T1502 ENST00000297267 15 51 66 0.772727272727273 Case7 6 146264758 CT C SHPRH frameshift_variant HIGH K586 ENST00000367505 18 43 61 0.704918032786885 Case7 6 132792638 CTCTT C STX7 frameshift_variant HIGH KE116 ENST00000367941 52 24 76 0.31578947368421 Case7 5 102537308 CA C PPIP5K2 frameshift_variant HIGH K1215 ENST00000414217 129 10 139 0.071942446043166 Case7 5 108436145 TCAAA T FER frameshift_variant HIGH LK658 ENST00000281092 100 56 156 0.358974358974359 Case7 5 128359396 G GA SLC27A6 frameshift_variant+splice_region_variant HIGH K417K? ENST00000262462 104 25 129 0.193798449612403 Case7 5 131931451 TA T RAD50 frameshift_variant HIGH L580 ENST00000378823 88 21 109 0.192660550458716 Case7 5 133861425 T TG JADE2 splice_donor_variant+intron_variant HIGH ENST00000282605 100 19 119 0.159663865546219 Case7 5 145838635 TCAGGCC T TCERG1 disruptive_inframe_deletion MODERATE QA210 ENST00000296702 97 26 123 0.211382113821138 Case7 5 145887464 T TA TCERG1 frameshift_variant HIGH V980V? ENST00000296702 71 55 126 0.436507936507936 Case7 5 149206385 AC A PPARGC1B frameshift_variant HIGH P135 ENST00000309241 96 25 121 0.206611570247934 Case7 5 154173389 G GC LARP1 frameshift_variant HIGH A223A? ENST00000336314 74 50 124 0.403225806451613 Case7 5 156923987 AC A ADAM19 frameshift_variant HIGH G503 ENST00000257527 52 61 113 0.539823008849557 Case7 5 172661816 CG C NKX2-5 frameshift_variant HIGH P90 ENST00000329198 61 36 97 0.371134020618557 Case7 5 173317576 A AC CPEB4 frameshift_variant HIGH P281P? ENST00000265085 85 21 106 0.19811320754717 Case7 5 178459384 C CA ZNF879 frameshift_variant HIGH K146K? ENST00000444149 94 31 125 0.248 Case7 6 26056587 CCTT C HIST1H1C inframe_deletion MODERATE K23 ENST00000343677 16 60 76 0.789473684210526 Case7 6 100382357 GA G MCHR2 frameshift_variant HIGH F208 ENST00000281806 19 47 66 0.712121212121212 Case7 7 92764475 CT C SAMD9L frameshift_variant HIGH K270 ENST00000318238 121 30 151 0.198675496688742 Case7 7 128447418 CAG C CCDC136 frameshift_variant HIGH TE475 ENST00000297788 64 38 102 0.372549019607843 Case7 7 143956189 CA C OR2A7 frameshift_variant HIGH C178 ENST00000493325 277 37 314 0.117834394904459 Case7 7 150069438 GC G REPIN1 frameshift_variant HIGH A427 ENST00000489432 64 57 121 0.471074380165289 Case7 11 45944648 CG C LARGE2 frameshift_variant HIGH P72 ENST00000531526 40 32 72 0.444444444444444 Case7 11 57471834 TTTC T MED19 disruptive_inframe_deletion MODERATE KK201K ENST00000431606 20 60 80 0.75 Case7 11 64863790 AG A VPS51 frameshift_variant HIGH E23 ENST00000279281 32 21 53 0.39622641509434 Case7 11 71249533 C CCCAGTCCAGCTGCTGTAAGCCCTGCTGCTGCTCTTCAGGCTGTGGGTCATCCTGCTG KRTAP5-8 stop_gained+disruptive_inframe_insertion HIGH Q145PVQLL*ALLLLFRLWVILLQ ENST00000398534 87 0 87 0 Case7 11 104878040 GT G CASP5 frameshift_variant HIGH T81 ENST00000393141 18 49 67 0.73134328358209 Case7 11 117152873 TC T RNF214 frameshift_variant HIGH P534 ENST00000300650 19 46 65 0.707692307692308 Case7 11 118344185 A AC KMT2A frameshift_variant HIGH T771T? ENST00000534358 25 38 63 0.603174603174603 Case7 12 970296 GA G WNK1 frameshift_variant HIGH E173 ENST00000340908 80 27 107 0.252336448598131 Case7 12 9091966 AAAG A PHC1 inframe_deletion MODERATE KE976K ENST00000543824 94 29 123 0.235772357723577 Case7 12 12814273 GT G GPR19 frameshift_variant HIGH N370 ENST00000540510 82 52 134 0.388059701492537 Case7 12 31448177 GT G FAM60A frameshift_variant HIGH N73 ENST00000337682 111 29 140 0.207142857142857 Case7 12 56559112 AG A SMARCC2 frameshift_variant HIGH P1074 ENST00000550164 65 50 115 0.434782608695652 Case7 12 57422572 CT C MYO1A frameshift_variant HIGH K1033 ENST00000442789 87 26 113 0.230088495575221 Case7 12 57560722 GC G LRP1 frameshift_variant HIGH C936 ENST00000243077 59 44 103 0.427184466019418 Case7 12 57921962 AC A MBD6 frameshift_variant HIGH P814 ENST00000355673 82 32 114 0.280701754385965 Case7 10 127668884 GCA G FANK1 frameshift_variant HIGH H57 ENST00000368693 67 23 90 0.255555555555556 Case7 12 77449826 A AT E2F7 frameshift_variant HIGH K59K? ENST00000322886 86 55 141 0.390070921985816 Case7 10 124909261 CAAG C HMX2 disruptive_inframe_deletion MODERATE K149 ENST00000339992 87 28 115 0.243478260869565 Case7 10 103826899 AC A HPS6 frameshift_variant HIGH P557 ENST00000299238 58 26 84 0.30952380952381 Case7 7 150939667 TAG T SMARCD3 frameshift_variant HIGH LY159 ENST00000262188 90 15 105 0.142857142857143 Case7 7 151874147 CT C KMT2C frameshift_variant HIGH K2797 ENST00000262189 72 47 119 0.394957983193277 Case7 8 24167472 G GA ADAM28 frameshift_variant+splice_region_variant HIGH K73K? ENST00000265769 18 71 89 0.797752808988764 Case7 9 2039776 ACAGCAG A SMARCA2 disruptive_inframe_deletion MODERATE QQ223 ENST00000382203 108 21 129 0.162790697674419 Case7 9 5968043 C CT KIAA2026 frameshift_variant HIGH K729K? ENST00000399933 85 50 135 0.37037037037037 Case7 9 18680349 TG T ADAMTSL1 frameshift_variant HIGH G393 ENST00000380548 56 46 102 0.450980392156863 Case7 9 69421904 CA C ANKRD20A4 frameshift_variant HIGH K457 ENST00000357336 149 20 169 0.118343195266272 Case7 9 73152275 GCT G TRPM3 frameshift_variant HIGH E1239 ENST00000377110 101 17 118 0.144067796610169 Case7 9 101216475 ACT A GABBR2 frameshift_variant HIGH E341 ENST00000259455 65 38 103 0.368932038834951 Case7 9 111617114 TC T ACTL7B frameshift_variant HIGH D366 ENST00000374667 93 12 105 0.114285714285714 Case7 9 115652768 G GC SLC46A2 frameshift_variant HIGH A65G? ENST00000374228 85 42 127 0.330708661417323 Case7 10 38343543 G GA ZNF33A frameshift_variant HIGH G163G? ENST00000307441 91 50 141 0.354609929078014 Case7 10 64974686 CCTT C JMJD1C disruptive_inframe_deletion MODERATE EG413G ENST00000399262 72 51 123 0.414634146341463 Case7 10 72511256 GC G ADAMTS14 frameshift_variant HIGH G820 ENST00000373208 82 22 104 0.211538461538462 Case7 10 85902495 G GA GHITM frameshift_variant HIGH E72E? ENST00000372134 82 20 102 0.196078431372549 Case7 10 118228794 AT A PNLIPRP3 frameshift_variant HIGH Y342 ENST00000369230 79 26 105 0.247619047619048 Case7 5 140553686 A G PCDHB7 missense_variant MODERATE T424A ENST00000231137 56 62 118 0.525423728813559 Case7 14 88729892 G A KCNK10 missense_variant MODERATE A19V ENST00000319231 11 67 78 0.858974358974359 Case7 5 138717666 C T SLC23A1 missense_variant MODERATE D75N ENST00000353963 45 57 102 0.558823529411765 Case7 12 132682410 G A GALNT9 missense_variant MODERATE T531M ENST00000328957 44 44 88 0.5 Case7 12 133245076 C T POLE missense_variant MODERATE R680H ENST00000320574 52 34 86 0.395348837209302 Case7 12 133433079 C T CHFR missense_variant MODERATE V414I ENST00000432561 47 51 98 0.520408163265306 Case7 13 21171175 G A IFT88 missense_variant MODERATE A180T ENST00000319980 73 59 132 0.446969696969697 Case7 13 26620874 G A SHISA2 missense_variant MODERATE T222M ENST00000319420 56 56 112 0.5 Case7 13 36241625 T C NBEA missense_variant MODERATE I2839T ENST00000400445 111 9 120 0.075 Case7 12 132537900 C T EP400 stop_gained HIGH Q2495* ENST00000389562 32 25 57 0.43859649122807 Case7 13 36748864 C A SOHLH2 missense_variant MODERATE A262S ENST00000379881 81 26 107 0.242990654205607 Case7 13 74420348 C T KLF12 missense_variant MODERATE V96I ENST00000377669 74 57 131 0.435114503816794 Case7 13 108861458 A G LIG4 missense_variant MODERATE V720A ENST00000356922 107 37 144 0.256944444444444 Case7 14 21967214 C T METTL3 missense_variant MODERATE R529H ENST00000298717 11 52 63 0.825396825396825 Case7 14 23884930 G A MYH7 missense_variant MODERATE R1689C ENST00000355349 37 16 53 0.30188679245283 Case7 14 23902837 C A MYH7 missense_variant MODERATE K35N ENST00000355349 73 5 78 0.064102564102564 Case7 14 24045086 G T JPH4 missense_variant MODERATE T320N ENST00000397118 12 50 62 0.806451612903226 Case7 13 50586455 G A TRIM13 missense_variant MODERATE V130I ENST00000356017 77 48 125 0.384 Case7 12 126004157 G A TMEM132B missense_variant MODERATE V422I ENST00000299308 88 25 113 0.221238938053097 Case7 12 123892171 C T KMT5A missense_variant MODERATE A327V ENST00000402868 70 19 89 0.213483146067416 Case7 12 123741471 C T C12orf65 stop_gained HIGH R132* ENST00000253233 71 59 130 0.453846153846154 Case7 12 50724357 G A FAM186A missense_variant+splice_region_variant MODERATE R2345W ENST00000327337 67 41 108 0.37962962962963 Case7 12 51461536 G A CSRNP2 missense_variant MODERATE R210W ENST00000228515 80 61 141 0.432624113475177 Case7 12 53188111 C T KRT3 missense_variant MODERATE R217Q ENST00000417996 66 57 123 0.463414634146341 Case7 12 56600349 C T RNF41 missense_variant MODERATE R279H ENST00000345093 100 12 112 0.107142857142857 Case7 12 56817369 G A TIMELESS missense_variant+splice_region_variant MODERATE R697C ENST00000553532 53 51 104 0.490384615384615 Case7 12 56992541 G A BAZ2A missense_variant MODERATE A1860V ENST00000551812 85 15 100 0.15 Case7 12 57589465 G A LRP1 missense_variant MODERATE R2821H ENST00000243077 58 49 107 0.457943925233645 Case7 12 68720795 G A MDM1 missense_variant MODERATE T47M ENST00000303145 94 50 144 0.347222222222222 Case7 12 94769760 G A CEP83 missense_variant MODERATE R279C ENST00000397809 60 59 119 0.495798319327731 Case7 12 96077428 C T NTN4 missense_variant MODERATE D414N ENST00000343702 70 53 123 0.430894308943089 Case7 12 101514302 C T ANO4 missense_variant MODERATE R859W ENST00000392977 62 41 103 0.398058252427184 Case7 12 107208802 G A RIC8B missense_variant MODERATE R154Q ENST00000392837 67 50 117 0.427350427350427 Case7 12 111772371 G A CUX2 missense_variant MODERATE R1018H ENST00000261726 65 45 110 0.409090909090909 Case7 12 112321433 G A MAPKAPK5 missense_variant MODERATE G237R ENST00000551404 68 59 127 0.464566929133858 Case7 12 113596735 C T DDX54 missense_variant MODERATE A866T ENST00000314045 68 68 136 0.5 Case7 14 35579082 G A PPP2R3C missense_variant MODERATE A116V ENST00000261475 14 57 71 0.802816901408451 Case7 14 58604824 G A C14orf37 missense_variant MODERATE T418M ENST00000267485 11 59 70 0.842857142857143 Case7 14 61923921 C T PRKCH stop_gained HIGH R330* ENST00000332981 15 58 73 0.794520547945205 Case7 14 77719706 C T TMEM63C missense_variant MODERATE T736M ENST00000298351 13 52 65 0.8 Case7 16 75665629 T C KARS missense_variant MODERATE Y375C ENST00000319410 8 53 61 0.868852459016393 Case7 16 84513627 C A TLDC1 missense_variant MODERATE K421N ENST00000343629 11 50 61 0.819672131147541 Case7 16 88788040 G A PIEZO1 missense_variant MODERATE P1770L ENST00000301015 36 24 60 0.4 Case7 17 1648285 G T SERPINF2 splice_acceptor_variant+intron_variant HIGH ENST00000324015 8 45 53 0.849056603773585 Case7 17 7123309 G T ACADVL missense_variant MODERATE Q2H ENST00000356839 41 23 64 0.359375 Case7 17 7247969 T C ACAP1 splice_donor_variant+intron_variant HIGH ENST00000158762 41 7 48 0.145833333333333 Case7 17 7577539 G A TP53 missense_variant MODERATE R248W ENST00000269305 8 54 62 0.870967741935484 Case7 17 12852523 G A ARHGAP44 missense_variant MODERATE V310M ENST00000379672 41 34 75 0.453333333333333 Case7 17 15890650 T C ZSWIM7 missense_variant MODERATE Q44R ENST00000399277 58 15 73 0.205479452054794 Case7 17 18181211 C T TOP3A missense_variant MODERATE A774T ENST00000542570 35 35 70 0.5 Case7 17 21215472 C T MAP2K3 missense_variant MODERATE R265W ENST00000342679 56 30 86 0.348837209302326 Case7 17 39780412 C T KRT17 missense_variant MODERATE R117H ENST00000311208 18 58 76 0.763157894736842 Case7 17 39974747 C A FKBP10 missense_variant MODERATE P232H ENST00000321562 44 20 64 0.3125 Case7 17 42478011 G T GPATCH8 missense_variant MODERATE S478R ENST00000591680 76 5 81 0.061728395061728 Case7 17 45773698 A G TBKBP1 missense_variant MODERATE I74V ENST00000361722 11 43 54 0.796296296296296 Case7 16 74670310 C T RFWD3 missense_variant MODERATE A454T ENST00000361070 36 26 62 0.419354838709678 Case7 12 49950224 G A KCNH3 missense_variant MODERATE G847D ENST00000257981 65 58 123 0.471544715447154 Case7 16 58589347 C T CNOT1 missense_variant MODERATE R900H ENST00000317147 44 19 63 0.301587301587302 Case7 16 31106711 C A VKORC1 missense_variant+splice_region_variant MODERATE R81M ENST00000420057 9 39 48 0.8125 Case7 14 77889142 G A NOXRED1 missense_variant MODERATE R31W ENST00000380835 11 66 77 0.857142857142857 Case7 X 142605148 A AT SPANXN3 frameshift_variant HIGH N24K? ENST00000370503 48 45 93 0.483870967741936 Case7 14 95921953 C T SYNE3 missense_variant MODERATE G300R ENST00000334258 44 24 68 0.352941176470588 Case7 15 41767739 C T RTF1 missense_variant MODERATE R435C ENST00000389629 31 32 63 0.507936507936508 Case7 15 59179263 C T SLTM missense_variant MODERATE A916T ENST00000380516 9 65 74 0.878378378378378 Case7 15 64995245 C A OAZ2 start_lost HIGH M1I ENST00000326005 39 22 61 0.360655737704918 Case7 15 75674001 G A SIN3A missense_variant MODERATE L1081F ENST00000394947 48 36 84 0.428571428571429 Case7 15 80762591 G A ARNT2 missense_variant MODERATE R76Q ENST00000303329 14 58 72 0.805555555555556 Case7 15 81650785 C A TMC3 missense_variant MODERATE Q186H ENST00000359440 13 46 59 0.779661016949153 Case7 15 84566629 G A ADAMTSL3 missense_variant MODERATE R496Q ENST00000286744 14 63 77 0.818181818181818 Case7 16 1445677 C A UNKL missense_variant MODERATE G433V ENST00000397462 5 57 62 0.919354838709677 Case7 16 2221325 G A TRAF7 missense_variant MODERATE V137I ENST00000326181 16 57 73 0.780821917808219 Case7 16 2987368 C T FLYWCH1 missense_variant MODERATE A587V ENST00000253928 16 54 70 0.771428571428571 Case7 16 3534810 G A NAA60 missense_variant MODERATE R129Q ENST00000572942 12 55 67 0.82089552238806 Case7 16 30771723 G A CCDC189 missense_variant MODERATE R6C ENST00000544613 12 57 69 0.826086956521739 Case7 16 56913053 G A SLC12A3 missense_variant MODERATE E417K ENST00000438926 8 48 56 0.857142857142857 Case7 17 45775986 G A TBKBP1 missense_variant MODERATE R160H ENST00000361722 39 20 59 0.338983050847458 Case7 12 49723712 G A TROAP missense_variant MODERATE V413M ENST00000257909 106 14 120 0.116666666666667 Case7 12 27944751 C T KLHL42 missense_variant MODERATE A328V ENST00000381271 59 59 118 0.5 Case7 1 151665924 G A SNX27 missense_variant MODERATE E515K ENST00000458013 38 27 65 0.415384615384615 Case7 1 151824877 C A THEM5 missense_variant MODERATE S61I ENST00000368817 31 14 45 0.311111111111111 Case7 1 153517212 G A S100A4 missense_variant MODERATE S20L ENST00000368716 13 61 74 0.824324324324324 Case7 1 156518444 C A IQGAP3 missense_variant MODERATE G641V ENST00000361170 38 18 56 0.321428571428571 Case7 1 159846506 C A CFAP45 missense_variant MODERATE A398S ENST00000368099 45 4 49 0.081632653061225 Case7 1 167849388 C A ADCY10 missense_variant MODERATE G394V ENST00000367851 8 59 67 0.880597014925373 Case7 1 151238534 C T PSMD4 missense_variant MODERATE R237W ENST00000368881 36 31 67 0.462686567164179 Case7 1 175372573 C T TNR missense_variant MODERATE G227R ENST00000367674 53 14 67 0.208955223880597 Case7 1 186089172 G A HMCN1 missense_variant MODERATE G4042S ENST00000271588 8 51 59 0.864406779661017 Case7 1 241729891 A G KMO missense_variant MODERATE D263G ENST00000366559 100 31 131 0.236641221374046 Case7 10 5541064 G A CALML5 missense_variant MODERATE P113L ENST00000380332 104 11 115 0.095652173913044 Case7 10 7285652 A G SFMBT2 missense_variant MODERATE F330L ENST00000397167 97 27 124 0.217741935483871 Case7 10 8019270 G A TAF3 missense_variant MODERATE A767T ENST00000344293 63 45 108 0.416666666666667 Case7 10 15145354 G A RPP38 missense_variant MODERATE R14H ENST00000378197 79 63 142 0.443661971830986 Case7 1 185891568 C T HMCN1 stop_gained HIGH R320* ENST00000271588 6 73 79 0.924050632911392 Case7 1 144931672 A G PDE4DIP missense_variant MODERATE C13R ENST00000529945 127 18 145 0.124137931034483 Case7 1 62582214 G A PATJ missense_variant MODERATE G1556R ENST00000371158 68 8 76 0.105263157894737 Case7 1 49201986 C A BEND5 missense_variant MODERATE G345C ENST00000371833 13 52 65 0.8 Case7 1 1254675 C T INTS11 splice_donor_variant+intron_variant HIGH ENST00000540437 53 8 61 0.131147540983607 Case7 1 1562118 C T MIB2 missense_variant MODERATE T469M ENST00000505820 7 56 63 0.888888888888889 Case7 1 3697686 G A LRRC47 missense_variant MODERATE A573V ENST00000378251 4 46 50 0.92 Case7 1 6511972 C T ESPN missense_variant MODERATE P714L ENST00000377828 49 34 83 0.409638554216867 Case7 1 6615547 C A TAS1R1 stop_gained HIGH Y38* ENST00000333172 13 51 64 0.796875 Case7 1 17085820 G A MST1L missense_variant MODERATE T334M ENST00000442552 111 9 120 0.075 Case7 1 17295672 C T CROCC missense_variant MODERATE A1713V ENST00000375541 10 49 59 0.830508474576271 Case7 1 17312819 C T ATP13A2 missense_variant MODERATE R1147H ENST00000326735 14 65 79 0.822784810126582 Case7 1 17942610 G A ARHGEF10L missense_variant MODERATE A250T ENST00000361221 11 50 61 0.819672131147541 Case7 1 27226777 G A GPATCH3 missense_variant MODERATE P53S ENST00000361720 33 21 54 0.388888888888889 Case7 1 31810054 C T ZCCHC17 missense_variant MODERATE R53W ENST00000373714 17 53 70 0.757142857142857 Case7 1 32221678 C T ADGRB2 missense_variant MODERATE G254R ENST00000373655 11 50 61 0.819672131147541 Case7 1 36032451 C T NCDN missense_variant MODERATE A187V ENST00000423723 47 21 68 0.308823529411765 Case7 1 37291325 G A GRIK3 stop_gained HIGH R545* ENST00000373091 40 35 75 0.466666666666667 Case7 1 39788636 G A MACF1 missense_variant MODERATE V1403M ENST00000361689 38 30 68 0.441176470588235 Case7 10 31809783 A C ZEB1 missense_variant MODERATE K508T ENST00000361642 93 54 147 0.36734693877551 Case7 10 35321424 T C CUL2 splice_acceptor_variant+intron_variant HIGH ENST00000374751 96 22 118 0.186440677966102 Case7 10 43325833 G A BMS1 missense_variant MODERATE R1194Q ENST00000374518 69 57 126 0.452380952380952 Case7 10 49203455 C T FAM25C missense_variant MODERATE A76T ENST00000342763 125 38 163 0.233128834355828 Case7 11 71146998 C T DHCR7 missense_variant MODERATE V118M ENST00000525137 15 45 60 0.75 Case7 11 78780950 G A TENM4 missense_variant MODERATE R14W ENST00000278550 73 10 83 0.120481927710843 Case7 11 94231571 G A ANKRD49 missense_variant MODERATE R198H ENST00000544612 48 28 76 0.368421052631579 Case7 11 100933223 C T PGR missense_variant MODERATE E723K ENST00000325455 15 45 60 0.75 Case7 11 107263582 G A CWF19L2 stop_gained HIGH Q553* ENST00000282251 45 31 76 0.407894736842105 Case7 11 117985907 G A TMPRSS4 missense_variant MODERATE R355Q ENST00000437212 38 17 55 0.309090909090909 Case7 11 118252148 G A UBE4A missense_variant MODERATE R647H ENST00000431736 20 55 75 0.733333333333333 Case7 11 126391233 C T KIRREL3 missense_variant MODERATE R137H ENST00000525144 14 51 65 0.784615384615385 Case7 12 2794993 C T CACNA1C missense_variant MODERATE R1937C ENST00000347598 71 51 122 0.418032786885246 Case7 12 3389602 G A TSPAN9 missense_variant MODERATE E129K ENST00000011898 59 53 112 0.473214285714286 Case7 12 5603603 G A NTF3 missense_variant MODERATE G88R ENST00000423158 62 44 106 0.415094339622642 Case7 12 12419642 C T LRP6 missense_variant MODERATE A10T ENST00000261349 58 50 108 0.462962962962963 Case7 12 18435536 G A PIK3C2G missense_variant MODERATE S174N ENST00000538779 98 27 125 0.216 Case7 12 20832968 G T PDE3A missense_variant MODERATE K1063N ENST00000359062 99 33 132 0.25 Case7 12 21054323 A T SLCO1B3 missense_variant MODERATE D596V ENST00000261196 82 61 143 0.426573426573427 Case7 11 68518056 C T TESMIN missense_variant MODERATE E25K ENST00000255087 14 76 90 0.844444444444444 Case7 12 49438688 C T KMT2D missense_variant MODERATE R1601H ENST00000301067 78 53 131 0.404580152671756 Case7 11 65386467 C T PCNX3 missense_variant MODERATE A545V ENST00000355703 31 13 44 0.295454545454546 Case7 11 13375908 C T ARNTL missense_variant MODERATE P18L ENST00000403290 18 58 76 0.763157894736842 Case7 10 61844538 G A ANK3 missense_variant MODERATE T1299M ENST00000280772 66 67 133 0.503759398496241 Case7 10 62374958 G A ANK3 stop_gained HIGH R28* ENST00000373827 63 66 129 0.511627906976744 Case7 10 70446318 G A TET1 missense_variant MODERATE R1753H ENST00000373644 65 55 120 0.458333333333333 Case7 10 71265880 C T TSPAN15 missense_variant+splice_region_variant MODERATE R207C ENST00000373290 58 45 103 0.436893203883495 Case7 10 72298876 C T PALD1 missense_variant MODERATE T533M ENST00000263563 81 48 129 0.372093023255814 Case7 10 75407774 C T SYNPO2L missense_variant MODERATE A546T ENST00000394810 61 42 103 0.407766990291262 Case7 10 95079688 G A MYOF stop_gained HIGH R1847* ENST00000359263 64 34 98 0.346938775510204 Case7 10 101089176 T C CNNM1 missense_variant MODERATE V11A ENST00000356713 116 7 123 0.056910569105691 Case7 10 118434813 G A HSPA12A missense_variant MODERATE R503W ENST00000369209 79 34 113 0.300884955752212 Case7 10 122648652 G T WDR11 missense_variant MODERATE M728I ENST00000263461 98 22 120 0.183333333333333 Case7 10 124157455 C T PLEKHA1 missense_variant MODERATE R55C ENST00000368990 71 39 110 0.354545454545455 Case7 10 127429908 C T EDRF1 missense_variant MODERATE R257W ENST00000368813 53 55 108 0.509259259259259 Case7 11 830691 G A CRACR2B missense_variant MODERATE R255H ENST00000525077 29 24 53 0.452830188679245 Case7 11 5878055 T A OR52E8 missense_variant MODERATE N293I ENST00000537935 15 59 74 0.797297297297297 Case7 11 6651392 C T DCHS1 missense_variant MODERATE V1545I ENST00000299441 16 81 97 0.835051546391753 Case7 11 16810821 C T PLEKHA7 missense_variant MODERATE R1060H ENST00000355661 12 45 57 0.789473684210526 Case7 5 140475987 G A PCDHB2 missense_variant MODERATE R538H ENST00000194155 82 60 142 0.422535211267606 Case7 17 46691793 G A HOXB8 stop_gained HIGH Q92* ENST00000239144 38 31 69 0.449275362318841 Case7 17 72848488 G A GRIN2C missense_variant MODERATE A221V ENST00000293190 14 51 65 0.784615384615385 Case7 21 45522730 C T TRAPPC10 missense_variant MODERATE R1140W ENST00000291574 60 36 96 0.375 Case7 21 47552039 C T COL6A2 missense_variant MODERATE A878V ENST00000300527 60 50 110 0.454545454545455 Case7 21 47666772 G A MCM3AP missense_variant MODERATE A1440V ENST00000397708 65 55 120 0.458333333333333 Case7 21 47978251 C T DIP2A missense_variant MODERATE A1305V ENST00000417564 92 21 113 0.185840707964602 Case7 22 21327717 G A AIFM3 missense_variant MODERATE R76Q ENST00000335375 37 27 64 0.421875 Case7 22 28394971 G A TTC28 missense_variant MODERATE T1559M ENST00000397906 16 45 61 0.737704918032787 Case7 21 40574402 C A BRWD1 missense_variant MODERATE Q1478H ENST00000333229 81 56 137 0.408759124087591 Case7 22 29280002 G A ZNRF3 missense_variant MODERATE G83D ENST00000544604 12 68 80 0.85 Case7 22 40074051 G A CACNA1I missense_variant MODERATE G1665S ENST00000402142 15 52 67 0.776119402985075 Case7 22 46658589 G A PKDREJ stop_gained HIGH Q211* ENST00000253255 16 62 78 0.794871794871795 Case7 22 50584133 G A MOV10L1 missense_variant MODERATE V841I ENST00000262794 14 67 81 0.82716049382716 Case7 22 50752254 G A DENND6B missense_variant MODERATE R398W ENST00000413817 5 41 46 0.891304347826087 Case7 22 51159385 G A SHANK3 missense_variant MODERATE A1058T ENST00000262795 12 58 70 0.828571428571429 Case7 3 5024937 C T BHLHE40 missense_variant MODERATE R267C ENST00000256495 7 48 55 0.872727272727273 Case7 22 37322102 G A CSF2RB missense_variant MODERATE V92M ENST00000403662 41 30 71 0.422535211267606 Case7 21 39671265 C T KCNJ15 missense_variant MODERATE R28C ENST00000328656 59 56 115 0.48695652173913 Case7 21 37741293 C T MORC3 missense_variant MODERATE R543W ENST00000400485 74 58 132 0.439393939393939 Case7 21 34022646 C T SYNJ1 missense_variant MODERATE R1001Q ENST00000433931 106 26 132 0.196969696969697 Case7 2 220432610 G A OBSL1 missense_variant MODERATE A455V ENST00000404537 14 48 62 0.774193548387097 Case7 2 234669639 G C UGT1A1 missense_variant MODERATE E236Q ENST00000305208 9 54 63 0.857142857142857 Case7 2 234716433 A G MROH2A missense_variant MODERATE N743D ENST00000389758 14 42 56 0.75 Case7 2 242162743 T C ANO7 missense_variant MODERATE C875R ENST00000402430 8 36 44 0.818181818181818 Case7 20 2797364 G A TMEM239 missense_variant MODERATE R98Q ENST00000361033 54 63 117 0.538461538461538 Case7 20 20493368 G A RALGAPA2 missense_variant MODERATE P1549S ENST00000202677 92 22 114 0.192982456140351 Case7 20 25004176 C T ACSS1 missense_variant MODERATE V245M ENST00000323482 47 58 105 0.552380952380952 Case7 20 33442693 G A GGT7 missense_variant MODERATE T379M ENST00000336431 70 44 114 0.385964912280702 Case7 20 35507529 G A TLDC2 missense_variant MODERATE S92N ENST00000217320 61 51 112 0.455357142857143 Case7 20 37531391 G A PPP1R16B missense_variant MODERATE A218T ENST00000299824 109 11 120 0.091666666666667 Case7 20 44004133 C A TP53TG5 missense_variant MODERATE C105F ENST00000372726 105 56 161 0.347826086956522 Case7 20 45725724 C T EYA2 missense_variant+splice_region_variant MODERATE R269C ENST00000327619 64 30 94 0.319148936170213 Case7 20 58514233 G A PPP1R3D missense_variant MODERATE R252C ENST00000370996 40 42 82 0.51219512195122 Case7 21 17181204 C T USP25 missense_variant+splice_region_variant MODERATE T286M ENST00000400183 66 66 132 0.5 Case7 21 33949098 G A TCP10L missense_variant MODERATE R212W ENST00000300258 63 51 114 0.447368421052632 Case7 3 37059090 G T MLH1 missense_variant+splice_region_variant MODERATE S295I ENST00000231790 12 61 73 0.835616438356164 Case7 3 39184821 A C CSRNP1 missense_variant MODERATE L499V ENST00000273153 11 58 69 0.840579710144927 Case7 3 42775059 C T CCDC13 missense_variant MODERATE E472K ENST00000310232 20 36 56 0.642857142857143 Case7 3 46755884 C A PRSS50 missense_variant MODERATE R193L ENST00000315170 7 47 54 0.87037037037037 Case7 4 190876293 C A FRG1 missense_variant MODERATE P140Q ENST00000226798 105 7 112 0.0625 Case7 5 1037003 G A NKD2 missense_variant MODERATE A37T ENST00000382730 38 43 81 0.530864197530864 Case7 5 1293662 G A TERT missense_variant MODERATE R447C ENST00000310581 74 54 128 0.421875 Case7 5 1471014 C T LPCAT1 missense_variant MODERATE R402Q ENST00000283415 45 44 89 0.49438202247191 Case7 5 5239346 C T ADAMTS16 missense_variant MODERATE T746M ENST00000274181 91 31 122 0.254098360655738 Case7 5 7709361 G A ADCY2 missense_variant MODERATE R480H ENST00000338316 48 41 89 0.460674157303371 Case7 5 9224815 G A SEMA5A missense_variant MODERATE T206M ENST00000382496 88 22 110 0.2 Case7 5 13917315 C A DNAH5 missense_variant MODERATE K342N ENST00000265104 132 12 144 0.083333333333333 Case7 5 13917352 A G DNAH5 missense_variant MODERATE M330T ENST00000265104 122 10 132 0.075757575757576 Case7 5 23951793 C T C5orf17 missense_variant MODERATE R41C ENST00000507936 112 12 124 0.096774193548387 Case7 5 31983748 G C PDZD2 missense_variant MODERATE D322H ENST00000438447 94 36 130 0.276923076923077 Case7 5 66458604 G C MAST4 missense_variant MODERATE D1319H ENST00000403625 92 22 114 0.192982456140351 Case7 5 95091399 C T RHOBTB3 stop_gained HIGH R328* ENST00000379982 75 54 129 0.418604651162791 Case7 5 122365097 C A PPIC missense_variant MODERATE R45M ENST00000306442 114 26 140 0.185714285714286 Case7 5 138260953 C T CTNNA1 missense_variant MODERATE R586C ENST00000302763 64 43 107 0.401869158878505 Case7 4 190876278 G A FRG1 missense_variant MODERATE R135K ENST00000226798 106 7 113 0.061946902654867 Case7 2 203242229 T C BMPR2 missense_variant MODERATE V11A ENST00000374580 7 53 60 0.883333333333333 Case7 4 190876256 C T FRG1 missense_variant MODERATE R128C ENST00000226798 108 7 115 0.060869565217391 Case7 4 90816177 G A MMRN1 missense_variant MODERATE G19R ENST00000394980 8 48 56 0.857142857142857 Case7 3 49160675 T G LAMB2 missense_variant MODERATE M1372L ENST00000418109 20 53 73 0.726027397260274 Case7 3 53699762 T C CACNA1D missense_variant MODERATE V281A ENST00000288139 37 24 61 0.39344262295082 Case7 3 62268492 G A PTPRG missense_variant MODERATE V1335I ENST00000474889 13 48 61 0.786885245901639 Case7 3 113375085 C T USF3 missense_variant MODERATE C1815Y ENST00000316407 19 64 83 0.771084337349398 Case7 3 124390618 C T KALRN missense_variant MODERATE A2271V ENST00000360013 10 53 63 0.841269841269841 Case7 3 124732727 G A HEG1 missense_variant MODERATE R566W ENST00000311127 7 52 59 0.88135593220339 Case7 3 126733330 G A PLXNA1 missense_variant MODERATE E872K ENST00000393409 32 27 59 0.457627118644068 Case7 3 130425836 C T PIK3R4 missense_variant MODERATE E893K ENST00000356763 49 21 70 0.3 Case7 3 142731146 A G U2SURP missense_variant MODERATE E58G ENST00000473835 14 47 61 0.770491803278688 Case7 3 160073920 G A IFT80 missense_variant MODERATE R220C ENST00000326448 16 76 92 0.826086956521739 Case7 4 3432457 G A RGS12 missense_variant MODERATE G1297R ENST00000344733 10 40 50 0.8 Case7 4 47163327 G A GABRB1 missense_variant MODERATE G101E ENST00000295454 43 13 56 0.232142857142857 Case7 4 47408782 G A GABRB1 missense_variant MODERATE D307N ENST00000295454 20 57 77 0.74025974025974 Case7 4 48385769 G A SLAIN2 missense_variant MODERATE G443E ENST00000264313 72 8 80 0.1 Case7 4 85562075 G A CDS1 missense_variant MODERATE E322K ENST00000295887 10 59 69 0.855072463768116 Case7 4 151749354 C T LRBA missense_variant MODERATE V1717M ENST00000357115 44 29 73 0.397260273972603 Case7 17 48185985 C T PDK2 stop_gained HIGH R291* ENST00000503176 13 55 68 0.808823529411765 Case7 2 191900974 C T STAT4 missense_variant MODERATE E496K ENST00000392320 9 57 66 0.863636363636364 Case7 2 167094736 C A SCN9A missense_variant MODERATE K1212N ENST00000409672 68 18 86 0.209302325581395 Case7 19 3740744 G A TJP3 missense_variant MODERATE R618Q ENST00000589378 61 50 111 0.450450450450451 Case7 19 6496139 G A TUBB4A missense_variant MODERATE A124V ENST00000264071 57 45 102 0.441176470588235 Case7 19 6828866 G T VAV1 missense_variant MODERATE G407V ENST00000304076 99 11 110 0.1 Case7 19 7529500 G A ARHGEF18 missense_variant MODERATE R755Q ENST00000359920 54 46 100 0.46 Case7 19 7550794 C A PEX11G missense_variant MODERATE R60M ENST00000221480 68 65 133 0.488721804511278 Case7 19 8399608 A G KANK3 missense_variant MODERATE V368A ENST00000330915 102 33 135 0.244444444444444 Case7 19 3019741 G A TLE2 missense_variant MODERATE R109C ENST00000590536 62 57 119 0.478991596638655 Case7 19 8550990 G A HNRNPM missense_variant MODERATE A560T ENST00000325495 77 58 135 0.42962962962963 Case7 19 10400775 T C ICAM5 missense_variant MODERATE L19P ENST00000221980 45 59 104 0.567307692307692 Case7 19 10478843 C T TYK2 missense_variant MODERATE R118Q ENST00000525621 71 52 123 0.422764227642277 Case7 19 12461510 G A ZNF442 stop_gained HIGH R297* ENST00000242804 94 67 161 0.416149068322981 Case7 19 12975972 C T MAST1 stop_gained HIGH R540* ENST00000251472 66 37 103 0.359223300970874 Case7 19 13041475 C T FARSA missense_variant MODERATE R79H ENST00000314606 63 50 113 0.442477876106195 Case7 19 13409754 C T CACNA1A missense_variant MODERATE G898D ENST00000360228 62 61 123 0.495934959349593 Case7 19 10046988 C T OLFM2 missense_variant MODERATE A19T ENST00000264833 82 54 136 0.397058823529412 Case7 19 1990758 C T BTBD2 missense_variant MODERATE A250T ENST00000255608 92 21 113 0.185840707964602 Case7 19 1818815 T A REXO1 missense_variant MODERATE E931V ENST00000170168 104 25 129 0.193798449612403 Case7 19 1055335 G A ABCA7 missense_variant MODERATE R1397H ENST00000263094 60 44 104 0.423076923076923 Case7 17 73565105 C A LLGL2 missense_variant MODERATE L457M ENST00000392550 9 55 64 0.859375 Case7 17 74133843 G A FOXJ1 missense_variant MODERATE P286L ENST00000322957 14 59 73 0.808219178082192 Case7 17 78354704 C T RNF213 stop_gained HIGH R4572* ENST00000582970 5 50 55 0.909090909090909 Case7 17 79870453 G A SIRT7 missense_variant MODERATE R348C ENST00000328666 4 40 44 0.909090909090909 Case7 17 80141770 T C CCDC57 missense_variant MODERATE D364G ENST00000392343 7 53 60 0.883333333333333 Case7 18 24039766 C T KCTD1 missense_variant MODERATE V145M ENST00000408011 19 67 86 0.779069767441861 Case7 18 31187567 A G ASXL3 missense_variant MODERATE K22E ENST00000269197 13 53 66 0.803030303030303 Case7 18 32949522 C T ZNF396 missense_variant MODERATE G222D ENST00000589332 9 55 64 0.859375 Case7 18 39637994 C T PIK3C3 missense_variant MODERATE T804M ENST00000262039 17 70 87 0.804597701149425 Case7 18 43526654 G A EPG5 missense_variant MODERATE T551M ENST00000282041 9 46 55 0.836363636363636 Case7 18 48255959 C T MAPK4 missense_variant MODERATE T500M ENST00000400384 16 40 56 0.714285714285714 Case7 18 55276668 C T NARS missense_variant MODERATE C167Y ENST00000256854 36 22 58 0.379310344827586 Case7 18 63430146 G T CDH7 missense_variant MODERATE G23V ENST00000397968 16 48 64 0.75 Case7 19 307525 C T MIER2 missense_variant MODERATE V404M ENST00000264819 58 56 114 0.491228070175439 Case7 19 1012178 C T TMEM259 missense_variant MODERATE R243Q ENST00000356663 62 40 102 0.392156862745098 Case7 19 14523508 C T DDX39A missense_variant MODERATE R75H ENST00000589675 60 61 121 0.504132231404959 Case7 19 14829799 C T ZNF333 stop_gained HIGH R554* ENST00000292530 72 59 131 0.450381679389313 Case7 19 15223167 C T SYDE1 missense_variant MODERATE T530M ENST00000342784 73 51 124 0.411290322580645 Case7 19 16643532 G A CHERP missense_variant MODERATE A184V ENST00000546361 52 55 107 0.514018691588785 Case7 19 56701371 G A ZSCAN5B missense_variant MODERATE P438L ENST00000358992 56 49 105 0.466666666666667 Case7 2 28550173 C T BABAM2 missense_variant MODERATE P374L ENST00000344773 18 47 65 0.723076923076923 Case7 2 37283653 C T HEATR5B missense_variant MODERATE G777R ENST00000233099 14 76 90 0.844444444444444 Case7 2 47206047 G A TTC7A splice_donor_variant+intron_variant HIGH ENST00000394850 10 39 49 0.795918367346939 Case7 2 48032844 T A MSH6 stop_gained+splice_region_variant HIGH L1215* ENST00000234420 12 52 64 0.8125 Case7 2 68622899 G A PLEK missense_variant MODERATE R335H ENST00000234313 50 11 61 0.180327868852459 Case7 2 85531054 C T TCF7L1 missense_variant MODERATE P232L ENST00000282111 14 37 51 0.725490196078431 Case7 2 85570849 C T RETSAT missense_variant MODERATE G536R ENST00000295802 74 9 83 0.108433734939759 Case7 2 85570857 G A RETSAT missense_variant MODERATE A533V ENST00000295802 70 11 81 0.135802469135802 Case7 2 96047435 G A KCNIP3 missense_variant MODERATE G180D ENST00000295225 8 51 59 0.864406779661017 Case7 2 97909628 G T ANKRD36 missense_variant MODERATE E1477D ENST00000420699 25 63 88 0.715909090909091 Case7 2 119731925 G T MARCO missense_variant MODERATE K159N ENST00000327097 8 54 62 0.870967741935484 Case7 2 125530510 C T CNTNAP5 stop_gained HIGH Q889* ENST00000431078 43 34 77 0.441558441558442 Case7 2 130911502 G A SMPD4 missense_variant MODERATE R595C ENST00000409031 10 54 64 0.84375 Case7 2 152397270 C T NEB missense_variant MODERATE A6910T ENST00000397345 37 38 75 0.506666666666667 Case7 19 56565134 G A NLRP5 missense_variant MODERATE E1087K ENST00000390649 91 23 114 0.201754385964912 Case7 2 173900910 C G RAPGEF4 missense_variant MODERATE L920V ENST00000397081 41 22 63 0.349206349206349 Case7 19 56089760 G A ZNF579 missense_variant MODERATE R416C ENST00000325421 75 55 130 0.423076923076923 Case7 19 54937918 C T TTYH1 missense_variant MODERATE A236V ENST00000376531 57 49 106 0.462264150943396 Case7 19 18779844 G A KLHL26 missense_variant MODERATE R546Q ENST00000300976 63 44 107 0.411214953271028 Case7 19 22271205 G A ZNF257 missense_variant MODERATE R218Q ENST00000435820 79 61 140 0.435714285714286 Case7 19 24309922 G A ZNF254 missense_variant MODERATE G374R ENST00000357002 76 55 131 0.419847328244275 Case7 19 36351921 C T KIRREL2 missense_variant MODERATE R347C ENST00000360202 40 55 95 0.578947368421053 Case7 19 39798490 G T LRFN1 missense_variant MODERATE P700Q ENST00000248668 77 31 108 0.287037037037037 Case7 19 45315430 C T BCAM missense_variant MODERATE S72L ENST00000270233 62 56 118 0.474576271186441 Case7 19 46357722 C T SYMPK missense_variant MODERATE R11H ENST00000245934 67 61 128 0.4765625 Case7 19 47856739 G A DHX34 missense_variant MODERATE R151H ENST00000328771 80 54 134 0.402985074626866 Case7 19 49671236 G A TRPM4 stop_gained HIGH W110* ENST00000252826 76 65 141 0.460992907801418 Case7 19 50215998 T A CPT1C missense_variant MODERATE H675Q ENST00000392518 91 17 108 0.157407407407407 Case7 19 50831571 G C KCNC3 missense_variant MODERATE P257A ENST00000477616 65 60 125 0.48 Case7 19 50918816 G A POLD1 missense_variant MODERATE G896S ENST00000440232 68 34 102 0.333333333333333 Case7 19 51219626 G A SHANK1 missense_variant MODERATE P122L ENST00000293441 65 45 110 0.409090909090909 Case7 19 51984784 C T CEACAM18 missense_variant MODERATE R180W ENST00000396477 50 44 94 0.468085106382979 Case7 19 52618339 T C ZNF616 missense_variant MODERATE E693G ENST00000330123 101 16 117 0.136752136752137 Case7 19 55814114 C T BRSK1 missense_variant MODERATE R303W ENST00000309383 47 45 92 0.489130434782609 Case7 X 150840799 GAGA G PASD1 inframe_deletion MODERATE EK528E ENST00000370357 75 31 106 0.292452830188679 Case7