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ADfile.example_full_annotation.txt
1464 lines (1464 loc) · 253 KB
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ADfile.example_full_annotation.txt
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id gene chr pos ref alt refdp altdp aachange maxfreq vfunc vtype cadd cadd_flag meta meta_flag mcap mcap_flag revel revel_flag mvp mvp_flag vclass src adfref adfalt adrref adralt germ.carriers cohort_AF filter IGV
11000.p1 AGAP1 2 237029030 G A 20 29 "p.R717H,p.R770H" 6.89E-05 exonic nonsynonymous SNV 34 Dmis -0.174 Bmis 0.102 Dmis 0.546 Dmis 0.698943199 Bmis Dmis samtools . . . . 0 0 . .
11000.p1 SORCS1 10 108447964 C T 78 75 "p.V516M,p.V516M,p.V516M,p.V516M,p.V516M,p.V516M" 3.26E-05 exonic nonsynonymous SNV 23.9 Dmis -1.051 Bmis 0.007 Bmis 0.184 Bmis 0.117191472 Bmis Bmis samtools . . . . 0 0 . .
11000.p1 TDG 12 104359839 G C 72 7 . 7.63E-05 splicing . 23.1 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . no
11000.p1 NALCN 13 101890181 G A 53 24 "p.F424F,p.F424F,p.F453F,p.F453F,p.F453F" 3.35E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11005.p1 XYLT2 17 48434077 G A 13 27 p.R563H 0 exonic nonsynonymous SNV 28.6 Dmis -0.293 Bmis 0.031 Bmis 0.404 Bmis 0.604264794 Bmis Bmis samtools . . . . 0 0 . .
11006.p1 UBE3C 7 157041114 C T 50 54 p.S845F 8.95E-06 exonic nonsynonymous SNV 27.9 Dmis -0.366 Bmis 0.038 Bmis 0.564 Dmis 0.537766357 Bmis Dmis samtools . . . . 0 0 . .
11009.p1 TRIO 5 14388774 C T 75 72 p.R1312W 6.55E-05 exonic nonsynonymous SNV 35 Dmis -0.981 Bmis 0.014 Bmis 0.351 Bmis 0.534269205 Bmis Bmis samtools . . . . 0 0 . .
11010.p1 PDGFRL 8 17486088 G A 136 7 p.V200M 0 exonic nonsynonymous SNV 21.8 Dmis -1.007 Bmis 0.009 Bmis 0.035 Bmis 0.490213675 Bmis Bmis samtools 111 6 25 1 0 0 . no
11010.p1 ZNF423 16 49672031 G T 84 6 "p.S227R,p.S284R,p.S344R" 0 exonic nonsynonymous SNV 23.7 Dmis -0.987 Bmis 0.029 Bmis 0.227 Bmis 0.147330786 Bmis Bmis samtools 55 3 29 3 0 0 . ok
11013.p1 ZNF880 19 52888078 A T 89 8 p.K415N 1.76E-05 exonic nonsynonymous SNV 21.5 Dmis -1.104 Bmis 0.001 Bmis 0.081 Bmis 0.07629995 Bmis Bmis samtools . . . . 0 0 . no
11013.p1 SCUBE1 22 43607054 T G 107 7 p.T753P 0 exonic nonsynonymous SNV 26 Dmis -1.052 Bmis 0.022 Bmis 0.278 Bmis 0.605657356 Bmis Bmis samtools . . . . 0 0 . no
11021.p1 TTLL5 14 76231082 A G 49 47 p.S559G 0 exonic nonsynonymous SNV 11.05 Bmis -0.968 Bmis 0.008 Bmis 0.045 Bmis 0.061188463 Bmis Bmis samtools . . . . 0 0 . .
11023.p1 UMPS 3 124449326 T G 25 9 p.V3G 6.62E-05 exonic nonsynonymous SNV 4.453 Bmis -1.094 Bmis 0.068 Dmis 0.149 Bmis 0.269558023 Bmis Bmis samtools . . . . 0 0 . no
11026.p1 PRG4 1 186281435 A G 36 39 "p.I1174V,p.I1215V,p.I1267V,p.I1265V,p.I1308V" 0 exonic nonsynonymous SNV 1.381 Bmis -0.922 Bmis 0.009 Bmis 0.023 Bmis 0.013882241 Bmis Bmis samtools . . . . 0 0 . .
11027.p1 ADRM1 20 60883783 A C 38 7 "p.K358T,p.K358T,p.K397T,p.K397T" 9.03E-06 exonic nonsynonymous SNV 23.7 Dmis -0.277 Bmis 0.051 Dmis 0.452 Bmis 0.534269205 Bmis Bmis samtools 11 2 27 5 0 0 . ok
11028.p1 HDLBP 2 242187734 A G 92 98 "p.I481I,p.I514I,p.I514I,p.I514I,p.I514I,p.I514I" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11029.p1 ACLY 17 40042385 G A 37 30 "p.G728G,p.G674G,p.G684G,p.G738G" 6.53E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11030.p1 TNIK 3 170875262 C T 13 20 "p.R403Q,p.R403Q,p.R403Q,p.R403Q,p.R403Q,p.R403Q,p.R403Q,p.R403Q" 3.87E-05 exonic nonsynonymous SNV 24.5 Dmis -0.679 Bmis 0.02 Bmis 0.169 Bmis 0.386842465 Bmis Bmis samtools . . . . 0 0 . .
11033.p1 SPRR1A 1 152957838 G A 35 13 "p.K44K,p.K44K" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 17 9 18 4 0 0 . no
11033.p1 NAA25 12 112491413 C T 30 24 p.A559A 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11042.p1 EGFR 7 55233081 G A 23 17 "p.A344T,p.A566T,p.A566T,p.A611T,p.A558T,p.A611T,p.A611T,p.A611T" 3.25E-05 exonic nonsynonymous SNV 14.48 Bmis -1.101 Bmis 0.016 Bmis 0.131 Bmis 0.48056121 Bmis Bmis samtools . . . . 0 0 . .
11043.p1 POLQ 3 121208072 T A 42 59 p.N1236Y 0 exonic nonsynonymous SNV 16.02 Bmis -1.118 Bmis 0.017 Bmis 0.122 Bmis 0.524946585 Bmis Bmis samtools . . . . 0 0 . .
11043.p1 HNRNPF 10 43883191 T C 51 53 "p.T48A,p.T48A,p.T48A,p.T48A,p.T48A,p.T48A" 0 exonic nonsynonymous SNV 12.46 Bmis -1.058 Bmis 0.004 Bmis 0.089 Bmis 0.465761423 Bmis Bmis samtools . . . . 0 0 . .
11044.p1 TENM2 5 167553867 G T 35 51 "p.R541L,p.R773L" 0 exonic nonsynonymous SNV 22.4 Dmis -0.73 Bmis 0.004 Bmis 0.166 Bmis 0.043077524 Bmis Bmis samtools 30 38 5 13 0 0 . .
11046.p1 SEMA4C 2 97529773 C T 21 32 p.R407Q 2.70E-05 exonic nonsynonymous SNV 16.39 Bmis -0.987 Bmis 0.004 Bmis 0.054 Bmis 0.134007935 Bmis Bmis samtools . . . . 0 0 . .
11047.p1 ADAD1 4 123342540 G A 76 25 "p.A527T,p.A520T,p.A538T" 0 exonic nonsynonymous SNV 32 Dmis 0.936 Dmis 0.438 Dmis 0.86 Dmis 0.755500257 Dmis Dmis samtools . . . . 0 0 . ok
11047.p1 CCDC126 7 23682718 C T 43 54 p.S136L 8.99E-06 exonic nonsynonymous SNV 19.57 Bmis -0.781 Bmis 0.005 Bmis 0.04 Bmis 0.101711396 Bmis Bmis samtools . . . . 0 0 . .
11047.p1 RNF6 13 26792703 G A 70 88 "p.G78G,p.G78G,p.G78G,p.G78G" 3.25E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11050.p1 SLC1A2 11 35327756 G T 56 11 "p.P199T,p.P190T,p.P190T" 8.98E-06 exonic nonsynonymous SNV 7.033 Bmis -1.022 Bmis 0.018 Bmis 0.053 Bmis 0.333849504 Bmis Bmis samtools . . . . 0 0 . no
11051.p1 SLC17A6 11 22360097 A G 16 9 p.Q6Q 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11051.p1 ARSD X 2835964 G A 11 9 "p.F248F,p.F248F" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11052.p1 MUSK 9 113563148 G T 72 6 "p.E734D,p.E744D,p.E830D" 0 exonic nonsynonymous SNV 8.931 Bmis -0.354 Bmis 0.062 Dmis 0.455 Bmis 0.855979348 Dmis Bmis samtools . . . . 0 0 . no
11055.p1 DDX20 1 112308784 T G 21 14 p.S580A 6.54E-05 exonic nonsynonymous SNV 26.2 Dmis -0.664 Bmis 0.06 Dmis 0.271 Bmis 0.847277565 Dmis Bmis samtools . . . . 0 0 . .
11055.p1 CEP350 1 179983048 A C 14 14 p.N487T 0 exonic nonsynonymous SNV 0.023 Bmis -0.702 Bmis 0.047 Bmis 0.141 Bmis 0.154995785 Bmis Bmis samtools . . . . 0 0 . .
11055.p1 DSPP 4 88536917 G A 49 6 p.D1035N 0 exonic nonsynonymous SNV 10.63 Bmis -0.739 Bmis 0.038 Bmis 0.123 Bmis 0.423954403 Bmis Bmis samtools 19 2 30 4 0 0 . no
11055.p1 MAK 6 10796279 C T 56 6 "p.E365E,p.E365E,p.E365E" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
11056.p1 VPS39 15 42461938 A G 47 43 "p.I406T,p.I417T" 0 exonic nonsynonymous SNV 22.6 Dmis -1.006 Bmis 0.061 Dmis 0.379 Bmis 0.600985508 Bmis Bmis samtools . . . . 0 0 . .
11057.p1 SESN2 1 28595732 G C 26 42 p.G43G 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11057.p1 LRRC56 11 551280 G A 22 12 p.K258K 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11064.p1 PSMG4 6 3263960 G A 46 35 "p.D73N,p.D73N,p.D73N" 9.81E-05 exonic nonsynonymous SNV 23.8 Dmis -0.765 Bmis 0.008 Bmis 0.226 Bmis 0.029773718 Bmis Bmis samtools . . . . 0 0 . .
11064.p1 HIPK2 7 139259895 C G 29 7 "p.Q1008H,p.Q1035H" 3.26E-05 exonic nonsynonymous SNV 23 Dmis -0.718 Bmis 0.021 Bmis 0.245 Bmis 0.740036973 Bmis Bmis samtools . . . . 0 0 . no
11065.p1 MTCL1 18 8825785 G A 27 17 p.R1426H 0 exonic nonsynonymous SNV 30 Dmis 0.034 Dmis 0.04 Bmis 0.457 Bmis 0.665643714 Bmis Bmis samtools 18 11 9 6 0 0 . .
11066.p1 CALD1 7 134618520 G T 169 9 p.E334X 0 exonic stopgain 34 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . no
11068.p1 THG1L 5 157161695 C T 35 27 "p.V28V,p.V35V,p.V160V,p.V98V" 8.95E-06 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11069.p1 ZFYVE9 1 52704550 T G 30 21 "p.G487G,p.G487G" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11075.p1 ZNF257 19 22270807 T C 91 7 "p.L9L,p.L85L,p.L53L,p.L9L" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
11080.p1 RPTOR 17 78599573 C A 118 7 "p.A82E,p.A82E" 0 exonic nonsynonymous SNV 29.2 Dmis 0.242 Dmis 0.243 Dmis 0.497 Bmis 0.783502342 Dmis Bmis samtools . . . . 0 0 . no
11083.p1 LVRN 5 115351067 C T 91 19 p.Q857X 0 exonic stopgain 35 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . no
11084.p1 TERF2 16 69401013 G C 32 26 p.A346G 8.95E-06 exonic nonsynonymous SNV 23.1 Dmis -1.001 Bmis 0.004 Bmis 0.075 Bmis 0.411157336 Bmis Bmis samtools . . . . 0 0 . .
11085.p1 KIF17 1 21011431 A C 15 7 "p.V701G,p.V601G,p.V701G" 0 exonic nonsynonymous SNV 9.046 Bmis -0.939 Bmis 0.012 Bmis 0.215 Bmis 0.422524666 Bmis Bmis samtools . . . . 0 0 . .
11085.p1 NEMP2 2 191383490 G A 69 8 p.L164F 4.85E-05 exonic nonsynonymous SNV 24.7 Dmis -0.12 Bmis 0.106 Dmis 0.593 Dmis 0.566629818 Bmis Dmis samtools . . . . 0 0 . no
11085.p1 SPATA3 2 231861062 G T 10 6 p.Q38H 0 exonic nonsynonymous SNV 4.84 Bmis -1.002 Bmis 0.002 Bmis 0.043 Bmis 0.101711396 Bmis Bmis samtools . . . . 0 0 . .
11085.p1 TMEM229A 7 123672649 C A 26 13 p.G137C 0 exonic nonsynonymous SNV 23.9 Dmis -1.048 Bmis 0.042 Bmis 0.176 Bmis 0.134241683 Bmis Bmis samtools . . . . 0 0 . .
11085.p1 ADCY4 14 24792197 G C 21 6 "p.A752G,p.A752G,p.A752G" 6.54E-05 exonic nonsynonymous SNV 14.04 Bmis -0.912 Bmis 0.059 Dmis 0.296 Bmis 0.532696708 Bmis Bmis samtools . . . . 0 0 . no
11089.p1 DNAJB13 11 73681144 G T 68 6 p.Q312H 0 exonic nonsynonymous SNV 15.19 Bmis -0.782 Bmis 0.025 Bmis 0.403 Bmis 0.630325305 Bmis Bmis samtools . . . . 0 0 . no
11090.p1 ZMIZ1 10 81066040 G A 46 56 p.P869P 6.55E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11094.p1 CCDC14 3 123663756 A G 43 44 "p.I276T,p.I435T" 0 exonic nonsynonymous SNV 9.431 Bmis -1.022 Bmis 0.017 Bmis 0.076 Bmis 0.392083477 Bmis Bmis samtools . . . . 0 0 . .
11097.p1 NOTCH1 9 139390959 G A 78 44 p.P2411L 0 exonic nonsynonymous SNV 0.849 Bmis -0.951 Bmis 0.048 Bmis 0.137 Bmis 0.807181141 Dmis Bmis samtools . . . . 0 0 . .
11097.p1 CSNK2A1 20 472926 T C 39 30 "p.K62R,p.K198R,p.K198R" 8.96E-06 exonic nonsynonymous SNV 26.9 Dmis -0.958 Bmis 0.019 Bmis 0.387 Bmis 0.901433336 Dmis Bmis samtools 28 21 11 9 0 0 . .
11099.p1 PPP4C 16 30094819 G C 35 10 "p.S102S,p.S57S,p.S136S,p.S57S,p.S136S" 9.00E-06 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
11102.p1 UBR5 8 103307441 T G 24 20 "p.N1350T,p.N1350T" 0 exonic nonsynonymous SNV 24.4 Dmis -1.001 Bmis 0.023 Bmis 0.142 Bmis 0.067524289 Bmis Bmis samtools . . . . 0 0 . .
11107.p1 HAVCR1 5 156479568 C T 153 117 "p.T159T,p.T159T,p.T159T" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 52 25 101 92 0 0 . .
11107.p1 TROAP 12 49725038 C T 33 24 p.R714C 2.98E-05 exonic nonsynonymous SNV 35 Dmis -0.344 Bmis 0.008 Bmis 0.296 Bmis 0.413635276 Bmis Bmis samtools . . . . 0 0 . .
11107.p1 GALC 14 88407884 C T 172 122 "p.K540K,p.K563K,p.K537K" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11107.p1 TEX14 17 56676954 T C 13 8 "p.P590P,p.P584P,p.P584P" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11108.p1 C10orf53 10 50887799 T C 19 13 "p.L19P,p.L19P" 0 exonic nonsynonymous SNV 24.6 Dmis -0.137 Bmis 0.057 Dmis 0.374 Bmis 0.214338558 Bmis Bmis samtools . . . . 0 0 . .
11108.p1 TMEM38A 19 16790829 G T 61 6 p.A53A 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 36 5 25 1 0 0 . ok
11109.p1 PAEP 9 138454266 G T 17 12 "p.V53F,p.V75F,p.V75F" 4.50E-05 exonic nonsynonymous SNV 8.587 Bmis -1.066 Bmis 0.001 Bmis 0.012 Bmis 0.029773718 Bmis Bmis samtools . . . . 0 0 . .
11109.p1 FHOD1 16 67265359 C A 71 18 "p.V827L,p.V853L" 3.58E-05 exonic nonsynonymous SNV 23.9 Dmis -1.047 Bmis 0.009 Bmis 0.059 Bmis 0.381409048 Bmis Bmis samtools . . . . 0 0 . no
11111.p1 HRH1 3 11300939 G A 51 42 "p.A72A,p.A72A,p.A72A,p.A72A" 6.54E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11111.p1 SLC17A1 6 25813394 C G 30 43 p.D222H 0 exonic nonsynonymous SNV 25.7 Dmis -0.258 Bmis 0.058 Dmis 0.34 Bmis 0.857670273 Dmis Bmis samtools . . . . 0 0 . .
11111.p1 PCM1 8 17823633 A G 23 30 "p.E994G,p.E995G,p.E994G" 0 exonic nonsynonymous SNV 31 Dmis -0.994 Bmis 0.073 Dmis 0.392 Bmis 0.773605005 Dmis Bmis samtools . . . . 0 0 . .
11113.p1 KLRC1 12 10601981 T G 74 10 "p.H97P,p.H115P,p.H97P,p.H115P,p.H115P" 3.32E-05 exonic nonsynonymous SNV 0.002 Bmis -0.931 Bmis 0.001 Bmis 0.028 Bmis 0.200317383 Bmis Bmis samtools . . . . 0 0 . ok
11114.p1 SCN2A 2 166210819 G T 32 43 "p.G1013X,p.G1013X,p.G1013X" 0 exonic stopgain 39 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
11117.p1 PRR23C 3 138762808 A G 19 14 p.F219L 0 exonic nonsynonymous SNV 10.34 Bmis -1.06 Bmis 0.004 Bmis 0.01 Bmis 0.013882241 Bmis Bmis samtools . . . . 0 0 . .
11120.p1 PITPNM3 17 6371601 T C 30 22 "p.S576G,p.S612G" 0 exonic nonsynonymous SNV 10.29 Bmis -0.762 Bmis 0.017 Bmis 0.17 Bmis 0.35888054 Bmis Bmis samtools . . . . 0 0 . .
11122.p1 BUB1B-PAK6;PAK6 15 40568165 T A 30 24 "p.L639Q,p.L639Q,p.L594Q,p.L639Q,p.L639Q" 0 exonic nonsynonymous SNV 31 Dmis 0.203 Dmis 0.085 Dmis 0.769 Dmis 0.949387255 Dmis Dmis samtools . . . . 0 0 . .
11122.p1 GGA2 16 23479019 T C 54 12 p.E578E 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . ok
11122.p1 FBN3 19 8167608 G A 55 38 "p.P1697S,p.P1697S" 2.98E-05 exonic nonsynonymous SNV 2.733 Bmis -0.629 Bmis 0.13 Dmis 0.176 Bmis 0.569844294 Bmis Bmis samtools . . . . 0 0 . .
11132.p1 BTN1A1 6 26508728 G A 45 31 . 0 splicing . 22.6 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
11134.p1 PPP1R17 7 31736721 C A 29 30 "p.P75P,p.P126P" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11138.p1 BRPF1 3 9781299 T C 16 16 "p.Y406H,p.Y406H,p.Y406H,p.Y406H" 0 exonic nonsynonymous SNV 22.9 Dmis -0.109 Bmis 0.133 Dmis 0.516 Dmis 0.889667059 Dmis Dmis samtools . . . . 0 0 . .
11142.p1 ABR 17 1003915 C T 86 60 "p.E66K,p.E57K,p.E57K,p.E362K,p.E103K" 3.25E-05 exonic nonsynonymous SNV 35 Dmis 1.082 Dmis 0.219 Dmis 0.959 Dmis 0.992693348 Dmis Dmis samtools . . . . 0 0 . .
11145.p1 MRI1 19 13879717 C T 28 21 "p.V268V,p.V239V,p.V221V" 3.25E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11148.p1 KMT2C 7 151842339 G T 28 35 p.Y4691X 8.96E-06 exonic stopgain 36 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
11150.p1 CARMIL2 16 67681078 G A 21 14 "p.C224Y,p.C224Y" 0 exonic nonsynonymous SNV 27 Dmis -0.378 Bmis 0.043 Bmis 0.421 Bmis 0.811501631 Dmis Bmis samtools . . . . 0 0 . .
11158.p1 UBE4A 11 118245853 A T 25 35 "p.R453S,p.R460S" 0 exonic nonsynonymous SNV 11.66 Bmis -1.078 Bmis 0.005 Bmis 0.09 Bmis 0.123314135 Bmis Bmis samtools . . . . 0 0 . .
11159.p1 DSPP 4 88536457 T C 55 6 p.D881D 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 27 2 28 4 0 0 . no
11166.p1 EZR 6 159205699 A G 71 47 "p.H176H,p.H176H" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 54 32 17 15 0 0 . .
11169.p1 TNPO3 7 128622321 G A 24 26 "p.R550C,p.R614C" 6.53E-05 exonic nonsynonymous SNV 28.3 Dmis 0.009 Dmis 0.113 Dmis 0.623 Dmis 0.84543462 Dmis Dmis samtools . . . . 0 0 . .
11172.p1 NR4A2 2 157185876 A G 6 7 p.Y275H 0 exonic nonsynonymous SNV 25.4 Dmis 1.028 Dmis 0.799 Dmis 0.971 Dmis 0.979451116 Dmis Dmis samtools 1 4 5 3 0 0 . .
11178.p1 WDFY4 10 50109868 C A 28 30 p.L2516M 0 exonic nonsynonymous SNV 26.5 Dmis -0.764 Bmis 0.029 Bmis 0.171 Bmis 0.126345401 Bmis Bmis samtools . . . . 0 0 . .
11178.p1 PABPC3 13 25670753 T C 94 8 p.G139G 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
11178.p1 PCTP 17 53848508 T C 36 22 "p.W29R,p.W101R,p.W101R,p.W101R" 0 exonic nonsynonymous SNV 28 Dmis 0.354 Dmis 0.142 Dmis 0.848 Dmis 0.934221415 Dmis Dmis samtools . . . . 0 0 . .
11178.p1 SLC25A5 X 118603925 G A 34 9 p.R138H 2.59E-05 exonic nonsynonymous SNV 25.9 Dmis 0.778 Dmis 0.126 Dmis 0.899 Dmis 0.980474015 Dmis Dmis samtools . . . . 0 0 . no
11178.p1 SLC25A5 X 118603941 T C 29 9 p.A143A 8.34E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
11180.p1 SEMA4F 2 74889954 T G 56 7 . 0 splicing . 25.1 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . no
11180.p1 SVEP1 9 113265479 A G 198 13 p.L441P 0 exonic nonsynonymous SNV 24.8 Dmis -1.01 Bmis . Bmis 0.319 Bmis 0.143184339 Bmis Bmis samtools . . . . 0 0 . no
11180.p1 ARHGAP42 11 100820654 A C 99 8 p.T377P 7.24E-05 exonic nonsynonymous SNV 23.7 Dmis -1.022 Bmis 0.011 Bmis 0.205 Bmis 0.107399878 Bmis Bmis samtools . . . . 0 0 . no
11180.p1 ADCY4 14 24792197 G C 28 6 "p.A752G,p.A752G,p.A752G" 6.54E-05 exonic nonsynonymous SNV 14.04 Bmis -0.912 Bmis 0.059 Dmis 0.296 Bmis 0.532696708 Bmis Bmis samtools . . . . 0 0 . no
11180.p1 MYO19 17 34856992 C G 75 12 "p.A522P,p.A722P" 1.83E-05 exonic nonsynonymous SNV 8.993 Bmis -0.908 Bmis 0.004 Bmis 0.191 Bmis 0.048227956 Bmis Bmis samtools . . . . 0 0 . no
11180.p1 HNRNPUL1 19 41785055 C G 54 6 "p.S198C,p.S187C,p.S187C,p.S287C,p.S187C" 0 exonic nonsynonymous SNV 24.7 Dmis 0.266 Dmis 0.087 Dmis 0.765 Dmis 0.895602262 Dmis Dmis samtools . . . . 0 0 . no
11184.p1 HDGFL2 19 4475539 G A 36 22 "p.E83K,p.E107K,p.E83K" 0 exonic nonsynonymous SNV 29.8 Dmis 0.231 Dmis 0.09 Dmis 0.75 Dmis 0.695582837 Bmis Dmis samtools . . . . 0 0 . .
11185.p1 WDFY3 4 85630453 C T 31 38 p.R2697K 0 exonic nonsynonymous SNV 26.9 Dmis -0.683 Bmis 0.05 Dmis 0.443 Bmis 0.377143385 Bmis Bmis samtools . . . . 0 0 . .
11188.p1 DNAJB5 9 34997212 C G 26 23 "p.P407A,p.P335A,p.P449A,p.P407A,p.P335A,p.P448A" 0 exonic nonsynonymous SNV 23.1 Dmis -1.064 Bmis 0.009 Bmis 0.083 Bmis 0.530705156 Bmis Bmis samtools . . . . 0 0 . .
11189.p1 FAT1 4 187549328 A T 18 14 p.V1597E 0 exonic nonsynonymous SNV 29.9 Dmis -0.998 Bmis 0.026 Bmis 0.51 Dmis 0.479133204 Bmis Dmis samtools . . . . 0 0 . .
11189.p1 ATAD5 17 29167645 C G 6 10 p.T696S 0 exonic nonsynonymous SNV 15.75 Bmis -1.012 Bmis 0.002 Bmis 0.079 Bmis 0.182106788 Bmis Bmis samtools . . . . 0 0 . .
11190.p1 ADCK5 8 145608404 T C 53 6 p.V80A 0 exonic nonsynonymous SNV 1.161 Bmis -0.899 Bmis 0.115 Dmis 0.069 Bmis 0.309943085 Bmis Bmis samtools . . . . 0 0 . no
11190.p1 SETX 9 135139832 C G 21 7 "p.A2610P,p.A2610P,p.A2639P" 6.31E-05 exonic nonsynonymous SNV 12.96 Bmis -0.551 Bmis 0.09 Dmis 0.329 Bmis 0.623954058 Bmis Bmis samtools . . . . 0 0 . no
11190.p1 PHKG2 16 30764841 G T 48 6 "p.G173G,p.G173G" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
11193.p1 SFPQ 1 35656105 T C 54 47 p.Y470C 8.99E-06 exonic nonsynonymous SNV 26.7 Dmis -0.521 Bmis 0.111 Dmis 0.525 Dmis 0.895843859 Dmis Dmis samtools . . . . 0 0 . .
11198.p1 NACA 12 57106655 A G 50 39 "p.L183S,p.L183S,p.L183S,p.L183S,p.L183S,p.L893S" 0 exonic nonsynonymous SNV 29.3 Dmis 0.511 Dmis 0.127 Dmis 0.702 Dmis 0.880994847 Dmis Dmis samtools . . . . 0 0 . .
11202.p1 ZNF141 4 338200 G C 47 7 "p.K69N,p.K69N,p.K69N,p.K69N" 0 exonic nonsynonymous SNV 17.19 Bmis -0.967 Bmis . Bmis 0.025 Bmis 0.126345401 Bmis Bmis samtools . . . . 0 0 . no
11202.p1 FAT3 11 92533228 G A 37 19 p.R2350Q 3.25E-05 exonic nonsynonymous SNV 24.1 Dmis -0.888 Bmis 0.015 Bmis 0.319 Bmis 0.684617867 Bmis Bmis samtools . . . . 0 0 . .
11205.p1 LRP1 12 57532354 C T 50 48 p.A60A 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11205.p1 MEGF11 15 66208524 G A 23 29 p.T769I 0 exonic nonsynonymous SNV 22.9 Dmis -1.014 Bmis 0.01 Bmis 0.498 Bmis 0.410337123 Bmis Bmis samtools . . . . 0 0 . .
11206.p1 C1orf53 1 197871841 C T 13 15 p.A21V 0 exonic nonsynonymous SNV 22 Dmis -1.015 Bmis 0.047 Bmis 0.032 Bmis 0.04010828 Bmis Bmis samtools . . . . 0 0 . .
11208.p1 TLR10 4 38775885 T C 17 14 "p.K443E,p.K443E,p.K443E,p.K429E,p.K443E" 0 exonic nonsynonymous SNV 0.025 Bmis -0.997 Bmis 0.006 Bmis 0.026 Bmis 0.310771247 Bmis Bmis samtools . . . . 0 0 . .
11208.p1 METTL26 16 685776 T G 47 40 . 0 splicing . 22.9 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
11209.p1 NDST4 4 115760701 G A 32 41 p.Q707X 0 exonic stopgain 49 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
11209.p1 PRKD1 14 30102146 G A 29 25 "p.R441W,p.R449W,p.R353W" 4.49E-05 exonic nonsynonymous SNV 34 Dmis -0.445 Bmis 0.078 Dmis 0.494 Bmis 0.752484438 Dmis Bmis samtools . . . . 0 0 . .
11209.p1 KRT10 17 38975813 C T 38 24 p.E443E 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11214.p1 MCTP2 15 94841642 C G 10 9 "p.L50V,p.L50V" 0 exonic nonsynonymous SNV 5.355 Bmis -1.025 Bmis 0.014 Bmis 0.036 Bmis 0.257786959 Bmis Bmis samtools 5 6 5 3 0 0 . .
11215.p1 SMC6 2 17877683 T G 83 97 "p.N802T,p.N802T" 0 exonic nonsynonymous SNV 23.8 Dmis -1.087 Bmis 0.015 Bmis 0.066 Bmis 0.291323922 Bmis Bmis samtools . . . . 0 0 . .
11215.p1 AKNA 9 117103870 G A 23 37 "p.P1218L,p.P1337L,p.P1337L" 1.83E-05 exonic nonsynonymous SNV 18.88 Bmis -1.044 Bmis 0.004 Bmis 0.05 Bmis 0.671389198 Bmis Bmis samtools . . . . 0 0 . .
11216.p1 FGGY 1 59787330 G T 50 25 "p.A37S,p.A37S,p.A37S,p.A37S,p.A37S,p.A37S,p.A37S" 0 exonic nonsynonymous SNV 24.3 Dmis -0.937 Bmis 0.021 Bmis 0.137 Bmis 0.577206279 Bmis Bmis samtools . . . . 0 0 . .
11216.p1 SOHLH1 9 138590177 C T 17 23 "p.A115T,p.A115T" 2.98E-05 exonic nonsynonymous SNV 5.111 Bmis -1.018 Bmis 0.003 Bmis 0.012 Bmis 0.080625271 Bmis Bmis samtools . . . . 0 0 . .
11216.p1 MYOCD 17 12620732 C T 26 12 "p.L83F,p.L83F" 0 exonic nonsynonymous SNV 26.5 Dmis -0.25 Bmis 0.031 Bmis 0.349 Bmis 0.734644564 Bmis Bmis samtools 14 8 12 4 0 0 . .
11223.p1 DDX23 12 49225047 G A 27 24 p.A706V 0 exonic nonsynonymous SNV 34 Dmis -0.32 Bmis 0.175 Dmis 0.558 Dmis 0.771257844 Dmis Dmis samtools . . . . 0 0 . .
11224.p1 AP3B2 15 83346497 C T 42 45 "p.R403H,p.R435H,p.R435H" 3.00E-05 exonic nonsynonymous SNV 35 Dmis -0.276 Bmis 0.064 Dmis 0.47 Bmis 0.643872531 Bmis Bmis samtools . . . . 0 0 . .
11225.p1 HPCA 1 33354602 C T 39 25 p.L35F 0 exonic nonsynonymous SNV 18.84 Bmis -1.001 Bmis 0.077 Dmis 0.267 Bmis 0.245660935 Bmis Bmis samtools . . . . 0 0 . .
11225.p1 VANGL2 1 160393871 C T 17 22 p.T368I 0 exonic nonsynonymous SNV 25 Dmis -0.138 Bmis 0.184 Dmis 0.688 Dmis 0.275349458 Bmis Dmis samtools . . . . 0 0 . .
11226.p1 OBSCN 1 228434310 G A 58 56 "p.C1280Y,p.C1280Y,p.C1372Y" 0 exonic nonsynonymous SNV 26.7 Dmis -0.034 Bmis 0.047 Bmis 0.522 Dmis 0.631724915 Bmis Dmis samtools . . . . 0 0 . .
11226.p1 ZNF620 3 40553954 C A 41 39 p.G71G 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11226.p1 SDK1 7 3998632 G A 48 39 p.G407E 0 exonic nonsynonymous SNV 0.005 Bmis -1.065 Bmis 0.025 Bmis 0.045 Bmis 0.163833314 Bmis Bmis samtools . . . . 0 0 . .
11232.p1 XPO6 16 28167488 C A 80 10 "p.R335L,p.R321L" 0 exonic nonsynonymous SNV 23.9 Dmis -0.888 Bmis 0.026 Bmis 0.45 Bmis 0.506321031 Bmis Bmis samtools . . . . 0 0 . no
11234.p1 LRFN2 6 40399693 C T 19 23 p.S387N 0 exonic nonsynonymous SNV 9.695 Bmis -1.02 Bmis 0.006 Bmis 0.109 Bmis 0.622328726 Bmis Bmis samtools . . . . 0 0 . .
11239.p1 CAP2 6 17426910 G A 56 45 p.V71M 6.53E-05 exonic nonsynonymous SNV 29.2 Dmis -0.871 Bmis 0.045 Bmis 0.386 Bmis 0.466398759 Bmis Bmis samtools . . . . 0 0 . .
11239.p1 CRELD2 22 50315971 C G 31 12 p.P207A 3.40E-05 exonic nonsynonymous SNV 0.001 Bmis -1.025 Bmis . Bmis 0.019 Bmis 0.029773718 Bmis Bmis samtools 22 6 9 6 0 0 . no
11241.p1 ATP2B2 3 10452379 G T 106 7 "p.T107K,p.T107K,p.T107K" 0 exonic nonsynonymous SNV 32 Dmis 0.89 Dmis 0.466 Dmis 0.906 Dmis 0.803757714 Dmis Dmis samtools 57 4 49 3 0 0 . no
11241.p1 ANXA11 10 81921715 G T 80 6 "p.R386R,p.R386R,p.R386R,p.R386R,p.R353R,p.R386R" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 50 4 30 2 0 0 . no
11241.p1 SEZ6L2 16 29888716 C T 31 28 "p.Q481Q,p.Q551Q,p.Q525Q,p.Q595Q,p.Q525Q,p.Q595Q" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11241.p1 OLIG2 21 34399428 G T 119 7 p.T86T 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 72 4 47 3 0 0 . no
11242.p1 TET1 10 70333978 A G 49 49 p.K628R 0 exonic nonsynonymous SNV 23.2 Dmis -1.111 Bmis 0.013 Bmis 0.09 Bmis 0.043077524 Bmis Bmis samtools . . . . 0 0 . .
11246.p1 ARMC9 2 232127057 C G 85 21 "p.T355T,p.T355T" 0 exonic synonymous SNV . synonymous . synonymous . synonymous 0.013 synonymous . synonymous synonymous samtools . . . . 0 0 . ok
11246.p1 LNX1 4 54374202 C G 24 6 "p.G95G,p.G191G" 9.18E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
11249.p1 CMAS 12 22215336 T C 72 58 p.M361T 0 exonic nonsynonymous SNV 15.83 Bmis -1.044 Bmis 0.006 Bmis 0.124 Bmis 0.212008924 Bmis Bmis samtools . . . . 0 0 . .
11250.p1 MOGAT1 2 223559997 C A 56 6 p.I281I 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
11252.p1 DYSF 2 71738996 G T 60 6 "p.P135P,p.P134P,p.P134P,p.P134P,p.P134P,p.P134P,p.P134P,p.P135P,p.P135P,p.P135P,p.P135P,p.P135P,p.P135P,p.P134P" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
11252.p1 SURF1 9 136220672 G T 63 6 "p.G40G,p.G149G" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 35 5 28 1 0 0 . ok
11254.p1 SYNGAP1 6 33400029 G A 32 38 "p.S129S,p.S129S" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11256.p1 PTK7 6 43109471 C T 18 21 "p.R432X,p.R522X,p.R570X,p.R562X,p.R562X" 5.80E-05 exonic stopgain 37 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
11256.p1 PABPC3 13 25671292 C T 116 15 p.T319I 0 exonic nonsynonymous SNV 26.2 Dmis -1.09 Bmis . Bmis 0.158 Bmis 0.592197217 Bmis Bmis samtools . . . . 0 0 . ok
11257.p1 RUVBL1 3 127806574 A T 101 110 "p.L365Q,p.L305Q,p.L365Q" 0 exonic nonsynonymous SNV 24.1 Dmis -0.925 Bmis 0.029 Bmis 0.353 Bmis 0.720334151 Bmis Bmis samtools . . . . 0 0 . .
11257.p1 VKORC1L1 7 65419074 C T 60 56 p.R70C 5.80E-05 exonic nonsynonymous SNV 14.92 Bmis -0.091 Bmis 0.161 Dmis 0.425 Bmis 0.143184339 Bmis Bmis samtools . . . . 0 0 . .
11263.p1 RPF1 1 84945109 C A 14 14 p.P49T 0 exonic nonsynonymous SNV 27.4 Dmis -0.942 Bmis 0.024 Bmis 0.136 Bmis 0.870217654 Dmis Bmis samtools . . . . 0 0 . .
11264.p1 PLCG2 16 81892756 C G 31 26 p.T156S 0 exonic nonsynonymous SNV 17.33 Bmis -0.925 Bmis 0.015 Bmis 0.057 Bmis 0.475805701 Bmis Bmis samtools . . . . 0 0 . .
11264.p1 SSC5D 19 56029516 A G 28 13 p.T1291T 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 11 11 17 2 0 0 . .
11268.p1 NDUFA13 19 19638565 G A 41 19 p.V101M 0 exonic nonsynonymous SNV 24.7 Dmis 0.045 Dmis 0.285 Dmis 0.557 Dmis 0.942574099 Dmis Dmis samtools . . . . 0 0 . .
11271.p1 ATP11B 3 182607238 C G 22 20 p.L962V 0 exonic nonsynonymous SNV 16.63 Bmis -0.223 Bmis 0.043 Bmis 0.519 Dmis 0.585908573 Bmis Dmis samtools . . . . 0 0 . .
11282.p1 PRMT7 16 68387469 G T 95 7 "p.K500N,p.K550N,p.K550N,p.K551N,p.K550N" 0 exonic nonsynonymous SNV 23.4 Dmis -1.128 Bmis . Bmis 0.061 Bmis 0.427596317 Bmis Bmis samtools . . . . 0 0 . no
11290.p1 NKX2-4 20 21376798 C T 15 9 p.P272P 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11291.p1 TSPAN17 5 176078840 C A 107 95 "p.S75X,p.S75X,p.S75X" 0 exonic stopgain 35 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
11294.p1 CEP128 14 81302669 G A 113 111 p.R313C 0 exonic nonsynonymous SNV 33 Dmis 0.474 Dmis 0.169 Dmis 0.536 Dmis 0.875651832 Dmis Dmis samtools . . . . 0 0 . .
11297.p1 FLII 17 18152174 C T 44 29 "p.G598E,p.G642E,p.G653E" 2.98E-05 exonic nonsynonymous SNV 33 Dmis 0.191 Dmis 0.271 Dmis 0.668 Dmis 0.881759523 Dmis Dmis samtools . . . . 0 0 . .
11301.p1 TP53BP2 1 224001962 C T 82 7 p.R90H 0 exonic nonsynonymous SNV 16.06 Bmis -1.013 Bmis 0.003 Bmis 0.144 Bmis 0.38441952 Bmis Bmis samtools 67 6 15 1 0 0 . ok
11303.p1 UMPS 3 124449326 T G 31 12 p.V3G 6.62E-05 exonic nonsynonymous SNV 4.453 Bmis -1.094 Bmis 0.068 Dmis 0.149 Bmis 0.269558023 Bmis Bmis samtools . . . . 0 0 . no
11303.p1 SAFB 19 5657356 T C 33 30 "p.H463H,p.H551H,p.H620H,p.H620H,p.H620H,p.H620H" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11305.p1 BLVRA 7 43843438 G T 48 6 "p.E208D,p.E208D" 0 exonic nonsynonymous SNV 10.64 Bmis -1.009 Bmis 0.002 Bmis 0.016 Bmis 0.112648839 Bmis Bmis samtools . . . . 0 0 . no
11329.p1 MAPK8IP1 11 45926730 G A 22 16 p.A665T 0 exonic nonsynonymous SNV 25.3 Dmis -1.08 Bmis 0.008 Bmis 0.165 Bmis 0.461940019 Bmis Bmis samtools . . . . 0 0 . .
11330.p1 PGLYRP2 19 15587095 T C 22 26 p.E129G 0 exonic nonsynonymous SNV 13.33 Bmis -1.015 Bmis 0.007 Bmis 0.047 Bmis 0.435915823 Bmis Bmis samtools . . . . 0 0 . .
11338.p1 RYR3 15 34040361 T C 30 36 "p.M2679T,p.M2679T" 0 exonic nonsynonymous SNV 26.6 Dmis 0.932 Dmis 0.67 Dmis 0.968 Dmis 0.908660008 Dmis Dmis samtools . . . . 0 0 . .
11345.p1 ACSM6 10 96954363 C A 61 6 p.L41I 0 exonic nonsynonymous SNV 2.163 Bmis -0.984 Bmis 0.002 Bmis 0.087 Bmis 0.066654435 Bmis Bmis samtools . . . . 0 0 . no
11346.p1 SLC17A6 11 22397637 T A 54 72 p.S428S 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11347.p1 RBM15 1 110882464 G T 32 6 "p.G146V,p.G146V" 0 exonic nonsynonymous SNV 24 Dmis -0.936 Bmis 0.014 Bmis 0.213 Bmis 0.290620346 Bmis Bmis samtools 28 4 4 2 0 0 . no
11347.p1 MAMDC4 9 139752891 A C 76 6 p.H905P 0 exonic nonsynonymous SNV 25.6 Dmis -1.086 Bmis 0.035 Bmis 0.203 Bmis 0.203808441 Bmis Bmis samtools 18 4 58 2 0 0 . no
11347.p1 WSCD1 17 6012986 G T 218 8 p.R303R 1.79E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 122 4 96 4 0 0 . no
11348.p1 TET2 4 106196675 C T 25 20 p.L1670F 0 exonic nonsynonymous SNV 24.4 Dmis -0.922 Bmis 0.018 Bmis 0.114 Bmis 0.578358932 Bmis Bmis samtools . . . . 0 0 . .
11348.p1 KIAA0586 14 58895068 A G 33 45 "p.H29R,p.H29R,p.H29R,p.H29R,p.H29R,p.H41R,p.H14R" 0 exonic nonsynonymous SNV 0.233 Bmis -1.006 Bmis 0.013 Bmis 0.038 Bmis 0.124217243 Bmis Bmis samtools . . . . 0 0 . .
11349.p1 CCT4 2 62115545 A G 21 20 "p.I33T,p.I33T" 0 exonic nonsynonymous SNV 24.5 Dmis -1.127 Bmis 0.033 Bmis 0.303 Bmis 0.147330786 Bmis Bmis samtools . . . . 0 0 . .
11352.p1 HCN4 15 73614863 T C 65 46 p.R1191G 0 exonic nonsynonymous SNV 23.2 Dmis -0.033 Bmis 0.074 Dmis 0.257 Bmis 0.731806583 Bmis Bmis samtools . . . . 0 0 . .
11353.p1 IKBKE 1 206658355 G A 25 20 "p.T398T,p.T483T,p.T483T" 6.27E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11354.p1 MROH7 1 55118710 C T 19 17 p.P37P 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11355.p1 PER2 2 239161576 G A 11 11 p.Q1030X 0 exonic stopgain 35 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
11356.p1 HCLS1 3 121351315 G A 79 10 "p.P331P,p.P368P" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 3 1 76 9 0 0 . no
11358.p1 TULP4 6 158924672 T G 16 6 p.V1326G 0 exonic nonsynonymous SNV 18.89 Bmis -0.75 Bmis 0.057 Dmis 0.345 Bmis 0.102598925 Bmis Bmis samtools . . . . 0 0 . ok
11359.p1 WDFY4 10 50025336 C A 21 25 p.A1796D 0 exonic nonsynonymous SNV 14.4 Bmis -1.015 Bmis 0.023 Bmis 0.168 Bmis 0.332646916 Bmis Bmis samtools . . . . 0 0 . .
11363.p1 CAMSAP1 9 138713882 T C 16 7 p.A875A 6.60E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11364.p1 DNAH1 3 52432886 T G 41 6 p.V4037G 2.13E-05 exonic nonsynonymous SNV 24.2 Dmis -1.144 Bmis 0.041 Bmis 0.271 Bmis 0.341696514 Bmis Bmis samtools . . . . 0 0 . no
11364.p1 SCIN 7 12683842 T G 53 9 "p.V307G,p.V554G" 4.60E-05 exonic nonsynonymous SNV 20.6 Dmis -0.642 Bmis 0.034 Bmis 0.204 Bmis 0.092086273 Bmis Bmis samtools . . . . 0 0 . no
11364.p1 FAM71E2 19 55870852 C G 16 6 p.A462P 0 exonic nonsynonymous SNV 14.98 Bmis -0.948 Bmis 0.027 Bmis 0.017 Bmis 0.013882241 Bmis Bmis samtools . . . . 0 0 . no
11370.p1 CCDC84 11 118868936 G A 10 13 p.C10Y 0 exonic nonsynonymous SNV 28.5 Dmis 0.176 Dmis 0.069 Dmis 0.792 Dmis 0.967912846 Dmis Dmis samtools . . . . 0 0 . .
11370.p1 GNAO1 16 56388838 G A 26 15 p.R313H 0 exonic nonsynonymous SNV 26 Dmis 0.401 Dmis 0.097 Dmis 0.67 Dmis 0.937576568 Dmis Dmis samtools . . . . 0 0 . .
11370.p1 MED24 17 38178730 C T 23 35 "p.V801M,p.V801M,p.V814M,p.V833M" 7.09E-05 exonic nonsynonymous SNV 34 Dmis -0.295 Bmis 0.04 Bmis 0.275 Bmis 0.805076593 Dmis Bmis samtools . . . . 0 0 . .
11388.p1 TFEB 6 41657498 T A 116 29 "p.I89F,p.I188F,p.I174F,p.I174F,p.I174F" 0 exonic nonsynonymous SNV 23.1 Dmis -1.102 Bmis 0.005 Bmis 0.066 Bmis 0.093489767 Bmis Bmis samtools . . . . 0 0 . ok
11390.p1 PTEN 10 89711882 C A 94 95 "p.T167N,p.T340N" 0 exonic nonsynonymous SNV 28.4 Dmis 1.095 Dmis 0.842 Dmis 0.751 Dmis 0.953837466 Dmis Dmis samtools . . . . 0 0 . .
11394.p1 CCDC181 1 169390748 G A 84 66 "p.N307N,p.N307N,p.N307N" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11394.p1 ZC3H4 19 47572583 C T 13 22 p.E722K 3.28E-05 exonic nonsynonymous SNV 23.1 Dmis -1.065 Bmis 0.009 Bmis 0.065 Bmis 0.067524289 Bmis Bmis samtools . . . . 0 0 . .
11401.p1 BCCIP 10 127520001 G T 41 28 "p.V142F,p.V142F,p.V142F" 0 exonic nonsynonymous SNV 28.2 Dmis -0.554 Bmis 0.04 Bmis 0.171 Bmis 0.743385484 Bmis Bmis samtools . . . . 0 0 . .
11401.p1 RYR1 19 39077208 A G 23 17 "p.T5000A,p.T5005A" 0 exonic nonsynonymous SNV 23.9 Dmis 1.092 Dmis 0.853 Dmis 0.932 Dmis 0.998104247 Dmis Dmis samtools . . . . 0 0 . .
11403.p1 FOXP1 3 71026115 G A 83 70 "p.R403X,p.R402X,p.R427X,p.R505X,p.R504X,p.R403X,p.R402X,p.R503X,p.R503X,p.R503X,p.R502X,p.R503X,p.R503X,p.R503X,p.R502X,p.R503X" 0 exonic stopgain 42 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
11403.p1 ANKRD66 6 46719684 C T 10 13 p.A55V 0 exonic nonsynonymous SNV 3.332 Bmis . Bmis 0.004 Bmis . Bmis 0.505640481 Bmis Bmis samtools . . . . 0 0 . .
11403.p1 DST 6 56366405 T A 63 42 "p.E3928D,p.E4254D,p.E4294D,p.E4432D" 0 exonic nonsynonymous SNV 9.677 Bmis -1.062 Bmis 0.002 Bmis 0.035 Bmis 0.370276754 Bmis Bmis samtools . . . . 0 0 . .
11404.p1 GIF 11 59603442 A G 69 48 p.P304P 8.96E-06 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11404.p1 PRPH 12 49689013 C A 6 6 p.A10A 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11406.p1 MMS22L 6 97627418 A C 34 17 "p.L518R,p.L801R,p.L801R" 0 exonic nonsynonymous SNV 25.2 Dmis -0.77 Bmis 0.03 Bmis 0.286 Bmis 0.128874641 Bmis Bmis samtools . . . . 0 0 . .
11409.p1 DSPP 4 88537000 C T 49 9 p.D1062D 4.23E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 17 1 32 8 0 0 . no
11411.p1 IGSF3 1 117122300 C A 12 7 "p.E1016D,p.E1036D" 0 exonic nonsynonymous SNV 0.043 Bmis -1.036 Bmis 0.005 Bmis 0.078 Bmis 0.448145237 Bmis Bmis samtools 6 5 6 2 0 0 . .
11411.p1 TSNARE1 8 143425725 G C 12 15 p.P116R 0 exonic nonsynonymous SNV 7.078 Bmis -1.04 Bmis 0.01 Bmis 0.109 Bmis 0.227260227 Bmis Bmis samtools 4 2 8 13 0 0 . .
11417.p1 E2F7 12 77440061 G A 24 14 p.L196L 3.25E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11420.p1 BAIAP2L1 7 97923404 G A 29 18 p.A481V 0 exonic nonsynonymous SNV 17.79 Bmis -1.067 Bmis 0.002 Bmis 0.068 Bmis 0.46220049 Bmis Bmis samtools . . . . 0 0 . .
11420.p1 TLE2 19 3005882 T C 8 7 "p.I407V,p.I530V,p.I529V,p.I543V" 0 exonic nonsynonymous SNV 16.3 Bmis -1.137 Bmis 0.011 Bmis 0.113 Bmis 0.235664434 Bmis Bmis samtools . . . . 0 0 . .
11421.p1 SCUBE2 11 9072167 C T 22 19 "p.R513Q,p.R542Q" 0 exonic nonsynonymous SNV 22.9 Dmis -0.931 Bmis 0.029 Bmis 0.143 Bmis 0.799377092 Dmis Bmis samtools . . . . 0 0 . .
11429.p1 HGC6.3 6 168376993 T C 160 10 p.M114V 0 exonic nonsynonymous SNV -1 Bmis . Bmis . Bmis . Bmis . Bmis Bmis samtools 60 2 100 8 0 0 . no
11431.p1 PPAN;PPAN-P2RY11 19 10221263 G T 5 7 "p.R282L,p.R335L,p.R335L,p.R334L,p.R334L,p.R335L" 0 exonic nonsynonymous SNV 23.7 Dmis -0.499 Bmis 0.098 Dmis 0.129 Bmis 0.579073791 Bmis Bmis samtools 1 4 4 3 0 0 . .
11436.p1 CMYA5 5 79095431 C G 22 6 p.H4068D 0 exonic nonsynonymous SNV 28.4 Dmis -0.807 Bmis 0.07 Dmis 0.267 Bmis 0.579660715 Bmis Bmis samtools . . . . 0 0 . ok
11437.p1 HTR6 1 19992788 G T 75 6 p.R181L 0 exonic nonsynonymous SNV 22.4 Dmis -0.99 Bmis 0.036 Bmis 0.192 Bmis 0.665809984 Bmis Bmis samtools 36 4 39 2 0 0 . ok
11437.p1 MAN2B1 19 12775632 G T 68 6 "p.R202R,p.R202R" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 63 5 5 1 0 0 . no
11437.p1 SLC25A5 X 118603984 G A 74 6 p.G158S 1.27E-05 exonic nonsynonymous SNV 21.9 Dmis -0.599 Bmis 0.023 Bmis 0.543 Dmis 0.968890453 Dmis Dmis samtools . . . . 0 0 . no
11441.p1 BAZ2B 2 160289294 T A 21 27 "p.D562V,p.D623V,p.D625V,p.D625V" 0 exonic nonsynonymous SNV 24.8 Dmis -0.855 Bmis 0.017 Bmis 0.226 Bmis 0.322284742 Bmis Bmis samtools . . . . 0 0 . .
11441.p1 TPST1 7 65705515 A G 27 13 p.I35V 0 exonic nonsynonymous SNV 6.458 Bmis -0.996 Bmis 0.002 Bmis 0.049 Bmis 0.188950314 Bmis Bmis samtools . . . . 0 0 . .
11442.p1 HSPG2 1 22199230 G T 7 8 "p.C1305X,p.C1304X" 0 exonic stopgain 38 LGD . LGD . LGD . LGD . LGD LGD samtools 2 2 5 6 0 0 . .
11442.p1 ZFPM2 8 106814868 A G 16 15 p.Y853C 0 exonic nonsynonymous SNV 25.1 Dmis -0.848 Bmis 0.066 Dmis 0.639 Dmis 0.725823078 Bmis Dmis samtools . . . . 0 0 . .
11442.p1 DNAH3 16 21038393 G A 11 8 "p.F1786F,p.F1832F" 5.96E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11445.p1 ZNF462 9 109692806 C A 22 25 "p.P1085T,p.P1950T" 0 exonic nonsynonymous SNV 23.2 Dmis -0.805 Bmis 0.026 Bmis 0.073 Bmis 0.267718591 Bmis Bmis samtools . . . . 0 0 . .
11450.p1 ANKRD30A 10 37430884 A T 72 6 p.S297S 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
11452.p1 CUL3 2 225376218 C A 96 83 "p.E180X,p.E252X,p.E246X" 0 exonic stopgain 38 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
11454.p1 POLH 6 43582216 T C 12 15 "p.P564P,p.P688P" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11459.p1 NAV2 11 20119143 C T 34 8 "p.D1075D,p.D1947D,p.D2011D,p.D2014D,p.D2070D" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . ok
11459.p1 DEPDC7 11 33053025 C T 24 37 "p.T295I,p.T286I" 0 exonic nonsynonymous SNV 15.06 Bmis -0.985 Bmis 0.009 Bmis 0.051 Bmis 0.578065631 Bmis Bmis samtools . . . . 0 0 . .
11459.p1 ISLR2 15 74425536 C T 16 17 "p.P147P,p.P147P,p.P147P,p.P147P" 4.71E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11466.p1 ARHGAP30 1 161017762 G A 20 23 "p.R840X,p.R869X,p.R1017X,p.R806X" 0 exonic stopgain 39 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
11470.p1 KIFC3 16 57805151 C T 9 10 "p.E140K,p.E103K,p.E103K,p.E242K,p.E264K,p.E184K,p.E103K,p.E242K,p.E103K" 5.96E-05 exonic nonsynonymous SNV 25.8 Dmis -0.514 Bmis 0.02 Bmis 0.286 Bmis 0.890044888 Dmis Bmis samtools 8 5 1 5 0 0 . .
11470.p1 ZNF90 19 20229093 C T 42 32 p.L244F 0 exonic nonsynonymous SNV 22.9 Dmis -0.973 Bmis 0.003 Bmis 0.089 Bmis 0.36608573 Bmis Bmis samtools 22 17 20 15 0 0 . .
11472.p1 MST1R 3 49933686 T C 28 25 "p.H758R,p.H864R,p.H864R" 0 exonic nonsynonymous SNV 0.002 Bmis -0.877 Bmis 0.015 Bmis 0.194 Bmis 0.255777322 Bmis Bmis samtools . . . . 0 0 . .
11472.p1 KRT80 12 52566841 A T 27 29 "p.I313N,p.I313N" 0 exonic nonsynonymous SNV 33 Dmis 1.004 Dmis 0.223 Dmis 0.87 Dmis 0.795947813 Dmis Dmis samtools . . . . 0 0 . .
11472.p1 SP7 12 53722742 G A 32 38 "p.H162Y,p.H162Y,p.H144Y" 3.06E-05 exonic nonsynonymous SNV 20.2 Dmis -0.459 Bmis 0.04 Bmis 0.362 Bmis 0.225033846 Bmis Bmis samtools . . . . 0 0 . .
11475.p1 AMBRA1 11 46564365 C T 24 29 "p.S401N,p.S311N,p.S311N,p.S311N" 0 exonic nonsynonymous SNV 17.86 Bmis -0.631 Bmis 0.017 Bmis 0.083 Bmis 0.384263066 Bmis Bmis samtools . . . . 0 0 . .
11475.p1 PPP5C 19 46890632 G A 21 14 "p.G331R,p.G353R" 3.27E-05 exonic nonsynonymous SNV 34 Dmis 0.048 Dmis 0.128 Dmis 0.631 Dmis 0.799069453 Dmis Dmis samtools . . . . 0 0 . .
11476.p1 CPT1B 22 51015372 G A 27 23 "p.R125C,p.R125C,p.R125C,p.R125C,p.R125C,p.R125C" 3.25E-05 exonic nonsynonymous SNV 34 Dmis 0.641 Dmis 0.476 Dmis 0.83 Dmis 0.956222208 Dmis Dmis samtools . . . . 0 0 . .
11480.p1 SLC40A1 2 190428392 A G 13 16 p.N440N 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11480.p1 IFIT5 10 91177539 T G 51 8 p.S195A 4.51E-05 exonic nonsynonymous SNV 0.003 Bmis -0.999 Bmis 0.004 Bmis 0.004 Bmis 0.258779203 Bmis Bmis samtools . . . . 0 0 . no
11480.p1 IRF2BPL 14 77494046 G C 13 18 p.F30L 0 exonic nonsynonymous SNV 24.8 Dmis -0.429 Bmis 0.29 Dmis 0.57 Dmis 0.292174397 Bmis Dmis samtools . . . . 0 0 . .
11485.p1 CCL5 17 34205584 G C 20 19 "p.H46D,p.H46D" 0 exonic nonsynonymous SNV 27.3 Dmis -1.238 Bmis 0.011 Bmis 0.299 Bmis 0.809413876 Dmis Bmis samtools . . . . 0 0 . .
11485.p1 SIN3B 19 16973723 C T 33 30 p.S432L 0 exonic nonsynonymous SNV 14.34 Bmis -1.034 Bmis 0.007 Bmis 0.069 Bmis 0.240615537 Bmis Bmis samtools . . . . 0 0 . .
11489.p1 CHGA 14 93392965 G A 54 50 "p.V37I,p.V37I" 8.96E-06 exonic nonsynonymous SNV 28.2 Dmis -0.704 Bmis 0.025 Bmis 0.131 Bmis 0.317958652 Bmis Bmis samtools . . . . 0 0 . .
11490.p1 ADAR 1 154574476 G T 66 6 "p.D214E,p.D214E,p.D214E" 0 exonic nonsynonymous SNV 0.001 Bmis -0.962 Bmis 0.005 Bmis 0.01 Bmis 0.246926114 Bmis Bmis samtools 34 5 32 1 0 0 . no
11490.p1 LIPE 19 42907172 G T 200 8 p.R852S 0 exonic nonsynonymous SNV 23.7 Dmis -1.047 Bmis 0.006 Bmis 0.114 Bmis 0.78457115 Dmis Bmis samtools 70 3 130 5 0 0 . no
11491.p1 CNOT1 16 58589410 G C 48 53 "p.S874C,p.S879C,p.S879C" 2.98E-05 exonic nonsynonymous SNV 26.8 Dmis 0.302 Dmis 0.146 Dmis 0.592 Dmis 0.532773999 Bmis Dmis samtools . . . . 0 0 . .
11491.p1 MYO19 17 34859824 T G 17 7 "p.T448P,p.T648P" 0 exonic nonsynonymous SNV 28.2 Dmis 1.026 Dmis 0.069 Dmis 0.841 Dmis 0.519241966 Bmis Dmis samtools . . . . 0 0 . no
11491.p1 CXorf23 X 19968968 C T 177 29 p.D550N 0 exonic nonsynonymous SNV 29.7 Dmis -0.902 Bmis 0.447 Dmis 0.121 Bmis 0.102598925 Bmis Bmis samtools . . . . 0 0 . ok
11492.p1 FAP 2 163083056 G A 92 79 "p.T56I,p.T56I" 9.20E-06 exonic nonsynonymous SNV 22.3 Dmis 0.656 Dmis 0.068 Dmis 0.473 Bmis 0.941643032 Dmis Bmis samtools . . . . 0 0 . .
11492.p1 CELSR3 3 48684327 G A 26 39 p.T2388T 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11495.p1 AGTRAP 1 11806264 C T 56 39 "p.A48V,p.A48V" 3.35E-05 exonic nonsynonymous SNV 6.508 Bmis -1.006 Bmis 0.001 Bmis 0.019 Bmis 0.055135567 Bmis Bmis samtools . . . . 0 0 . .
11497.p1 KBTBD13 15 65369229 G A 10 7 p.V26M 7.56E-05 exonic nonsynonymous SNV 11.93 Bmis -0.552 Bmis 0.045 Bmis 0.309 Bmis 0.652918622 Bmis Bmis samtools . . . . 0 0 . .
11502.p1 RIPOR2 6 24828496 A C 51 6 "p.L845R,p.L816R,p.L816R,p.L866R" 0 exonic nonsynonymous SNV 29.6 Dmis 0.161 Dmis 0.112 Dmis 0.682 Dmis 0.570401211 Bmis Dmis samtools . . . . 0 0 . no
11502.p1 LRCH4 7 100183600 C T 9 23 "p.V42M,p.V42M" 0 exonic nonsynonymous SNV 31 Dmis -0.974 Bmis 0.014 Bmis 0.106 Bmis 0.372628786 Bmis Bmis samtools . . . . 0 0 . .
11502.p1 ZNF574 19 42583525 C T 14 11 "p.S346L,p.S256L" 3.25E-05 exonic nonsynonymous SNV 9.434 Bmis -1.014 Bmis 0.003 Bmis 0.078 Bmis 0.043077524 Bmis Bmis samtools . . . . 0 0 . .
11506.p1 PSMB4 1 151372119 G A 27 6 p.G19E 0 exonic nonsynonymous SNV 26.3 Dmis -0.739 Bmis 0.148 Dmis 0.301 Bmis 0.709125273 Bmis Bmis samtools . . . . 0 0 . no
11506.p1 DOCK8 9 311964 G C 21 6 "p.R112P,p.R112P,p.R180P" 5.42E-05 exonic nonsynonymous SNV 22.7 Dmis -1.099 Bmis 0.007 Bmis 0.093 Bmis 0.336155897 Bmis Bmis samtools . . . . 0 0 . no
11506.p1 KDM2A 11 66974986 C G 30 6 p.R105G 9.32E-05 exonic nonsynonymous SNV 33 Dmis 0.012 Dmis 0.189 Dmis 0.481 Bmis 0.786371371 Dmis Bmis samtools . . . . 0 0 . no
11506.p1 CCDC63 12 111291282 A G 77 9 p.E28G 0 exonic nonsynonymous SNV 27.8 Dmis -0.602 Bmis 0.026 Bmis 0.189 Bmis 0.182747385 Bmis Bmis samtools . . . . 0 0 . no
11506.p1 SEZ6 17 27284428 A G 17 6 "p.L811P,p.L686P,p.L811P" 8.97E-06 exonic nonsynonymous SNV 26.7 Dmis 0.359 Dmis 0.26 Dmis 0.766 Dmis 0.811744573 Dmis Dmis samtools . . . . 0 0 . no
11506.p1 UNK 17 73808616 C G 47 8 p.A191G 0 exonic nonsynonymous SNV 29 Dmis -0.377 Bmis 0.015 Bmis 0.194 Bmis 0.134007935 Bmis Bmis samtools . . . . 0 0 . no
11510.p1 TRPM5 11 2428988 C T 31 37 . 5.40E-05 splicing . 24.6 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
11511.p1 ARSD X 2833631 A G 83 49 "p.Y322Y,p.Y322Y" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11512.p1 MAP4K1 19 39086584 A G 35 23 "p.M725T,p.M725T" 0 exonic nonsynonymous SNV 21.3 Dmis -0.958 Bmis 0.02 Bmis 0.103 Bmis 0.40695517 Bmis Bmis samtools . . . . 0 0 . .
11516.p1 MYH10 17 8526323 G A 54 25 "p.P81L,p.P81L,p.P81L" 0 exonic nonsynonymous SNV 28.9 Dmis 1.1 Dmis 0.392 Dmis 0.787 Dmis 0.887527719 Dmis Dmis samtools . . . . 0 0 . .
11518.p1 GPR146 7 1097719 A G 11 8 "p.T190A,p.T190A,p.T190A" 0 exonic nonsynonymous SNV 12.77 Bmis -1.044 Bmis 0.007 Bmis 0.077 Bmis 0.421674005 Bmis Bmis samtools . . . . 0 0 . .
11518.p1 OPLAH 8 145114848 C T 4 13 p.V30M 5.81E-05 exonic nonsynonymous SNV 24.5 Dmis -0.378 Bmis 0.086 Dmis 0.199 Bmis 0.048227956 Bmis Bmis samtools . . . . 0 0 . .
11518.p1 TPCN2 11 68840412 C T 75 18 p.L391L 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
11518.p1 HACD3 15 65856661 T C 97 19 p.V214A 0 exonic nonsynonymous SNV 8.681 Bmis -1.007 Bmis 0.017 Bmis 0.24 Bmis 0.137902524 Bmis Bmis samtools . . . . 0 0 . no
11519.p1 SMC3 10 112359556 C T 24 35 p.R805C 8.97E-06 exonic nonsynonymous SNV 34 Dmis 0.252 Dmis 0.309 Dmis 0.598 Dmis 0.8677902 Dmis Dmis samtools . . . . 0 0 . .
11520.p1 DLGAP2 8 1626547 G C 23 34 p.R819T 0 exonic nonsynonymous SNV 23.4 Dmis -0.807 Bmis 0.016 Bmis 0.293 Bmis 0.29597576 Bmis Bmis samtools . . . . 0 0 . .
11520.p1 CAPRIN1 11 34107646 A G 4 16 "p.A334A,p.A334A" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11521.p1 ZNF623 8 144732696 C T 15 14 "p.H218H,p.H178H,p.H178H" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11521.p1 HDHD2 18 44641641 C T 117 105 "p.G68G,p.G158G" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11522.p1 KCNH8 3 19554533 G A 11 6 p.E717E 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11523.p1 SGSM3 22 40802589 C T 13 10 "p.R307C,p.R303C,p.R307C,p.R303C,p.R303C,p.R204C,p.R370C,p.R370C,p.R370C,p.R307C,p.R307C,p.R370C" 8.96E-05 exonic nonsynonymous SNV 35 Dmis -0.814 Bmis 0.173 Dmis 0.594 Dmis 0.441949972 Bmis Dmis samtools . . . . 0 0 . .
11526.p1 ZBTB41 1 197128563 A G 61 66 p.Y886H 0 exonic nonsynonymous SNV 26.3 Dmis -1.153 Bmis 0.021 Bmis 0.264 Bmis 0.22806649 Bmis Bmis samtools . . . . 0 0 . .
11526.p1 PTGR1 9 114341206 C T 51 27 "p.G174E,p.G174E,p.G174E" 0 exonic nonsynonymous SNV 26.9 Dmis 0.858 Dmis 0.239 Dmis 0.635 Dmis 0.917909405 Dmis Dmis samtools . . . . 0 0 . .
11533.p1 MDN1 6 90468012 A G 14 22 p.D888D 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11536.p1 TTC30B 2 178417151 C G 52 7 p.R114P 0 exonic nonsynonymous SNV 22.9 Dmis -0.584 Bmis 0.179 Dmis 0.546 Dmis 0.757031788 Dmis Dmis samtools 25 3 27 4 0 0 . no
11540.p1 CSNK1G2 19 1978678 C A 47 44 p.L126M 0 exonic nonsynonymous SNV 25.2 Dmis 0.03 Dmis 0.232 Dmis 0.464 Bmis 0.563690283 Bmis Bmis samtools . . . . 0 0 . .
11543.p1 SNAP91 6 84375281 G T 87 91 "p.N50K,p.N50K,p.N50K,p.N50K,p.N15K" 0 exonic nonsynonymous SNV 23.3 Dmis -0.791 Bmis 0.029 Bmis 0.272 Bmis 0.662649802 Bmis Bmis samtools . . . . 0 0 . .
11544.p1 TG 8 133935689 C T 30 30 p.D1545D 6.50E-05 exonic synonymous SNV . synonymous . synonymous . synonymous 0.031 synonymous . synonymous synonymous samtools . . . . 0 0 . .
11544.p1 ELAVL3 19 11577075 T A 37 24 "p.Y82F,p.Y82F" 0 exonic nonsynonymous SNV 27.4 Dmis -0.564 Bmis 0.036 Bmis 0.231 Bmis 0.622462216 Bmis Bmis samtools . . . . 0 0 . .
11544.p1 ARSD X 2836181 A T 8 11 "p.M176K,p.M176K" 9.97E-05 exonic nonsynonymous SNV 20.3 Dmis -0.117 Bmis . Bmis 0.634 Dmis . Bmis Dmis samtools . . . . 0 0 . .
11547.p1 ALS2 2 202571654 G A 29 22 p.R1499C 6.55E-05 exonic nonsynonymous SNV 34 Dmis -0.89 Bmis 0.043 Bmis 0.207 Bmis 0.719310284 Bmis Bmis samtools . . . . 0 0 . .
11550.p1 EGLN2 19 41306712 G T 125 7 "p.G79C,p.G79C" 0 exonic nonsynonymous SNV 24.3 Dmis -1.064 Bmis 0.083 Dmis 0.215 Bmis 0.272205846 Bmis Bmis samtools 89 5 36 2 0 0 . no
11550.p1 KRTAP19-1 21 31852534 G T 144 7 p.R35R 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 100 6 44 1 0 0 . no
11555.p1 MDN1 6 90402347 G C 127 131 p.L3468V 0 exonic nonsynonymous SNV 13.68 Bmis -0.876 Bmis 0.024 Bmis 0.068 Bmis 0.220282294 Bmis Bmis samtools . . . . 0 0 . .
11558.p1 ANKHD1;ANKHD1-EIF4EBP3 5 139819806 C A 40 39 "p.S240R,p.S240R,p.S229R,p.S240R,p.S240R" 0 exonic nonsynonymous SNV 24.5 Dmis -0.585 Bmis 0.058 Dmis 0.451 Bmis 0.90672625 Dmis Bmis samtools . . . . 0 0 . .
11558.p1 PCDHB16 5 140563150 A T 32 52 p.D339V 0 exonic nonsynonymous SNV 24.5 Dmis -0.76 Bmis 0.107 Dmis 0.412 Bmis 0.641104024 Bmis Bmis samtools . . . . 0 0 . .
11558.p1 CUL9 6 43173047 G A 56 51 p.G1560D 0 exonic nonsynonymous SNV 23 Dmis -0.706 Bmis 0.016 Bmis 0.342 Bmis 0.641780433 Bmis Bmis samtools . . . . 0 0 . .
11558.p1 APBA1 9 72131524 T A 26 33 p.I201I 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11563.p1 SCNN1D 1 1222518 C A 9 8 p.Y383X 0 exonic stopgain 35 LGD . LGD . LGD . LGD . LGD LGD samtools 6 7 3 1 0 0 . .
11563.p1 SPTBN5 15 42150831 G A 8 8 p.A2732V 6.75E-05 exonic nonsynonymous SNV 9.386 Bmis -0.925 Bmis 0.015 Bmis 0.09 Bmis 0.500931478 Bmis Bmis samtools . . . . 0 0 . .
11563.p1 PKN1 19 14562758 G A 26 25 "p.R363H,p.R369H" 7.18E-05 exonic nonsynonymous SNV 32 Dmis -0.947 Bmis 0.06 Dmis 0.141 Bmis 0.490815138 Bmis Bmis samtools . . . . 0 0 . .
11564.p1 SIGLEC8 19 51961507 C T 67 6 p.V45V 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
11564.p1 ZNF185 X 152087576 G A 32 6 "p.E26K,p.E161K,p.E161K,p.E161K,p.E161K,p.E161K,p.E161K" 0 exonic nonsynonymous SNV 24.7 Dmis -0.992 Bmis 0.021 Bmis 0.1 Bmis 0.013882241 Bmis Bmis samtools . . . . 0 0 . no
11566.p1 DPYSL2 8 26510772 C T 36 35 "p.R601C,p.R460C,p.R496C" 8.98E-06 exonic nonsynonymous SNV 35 Dmis 0.928 Dmis 0.314 Dmis 0.83 Dmis 0.96483363 Dmis Dmis samtools 29 30 7 5 0 0 . .
11566.p1 OR1D2 17 2996171 C T 33 47 p.V40V 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 9 11 24 36 0 0 . .
11568.p1 ITGB1 10 33200439 G A 22 18 "p.P623L,p.P623L,p.P623L" 8.97E-05 exonic nonsynonymous SNV 23.7 Dmis -0.36 Bmis 0.024 Bmis 0.364 Bmis 0.699080593 Bmis Bmis samtools 14 13 8 5 0 0 . .
11569.p1 LRRC8B 1 90049523 G A 16 20 "p.E438E,p.E438E" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11569.p1 TNKS 8 9567684 G C 41 45 p.R568T 0 exonic nonsynonymous SNV 24 Dmis -0.681 Bmis 0.019 Bmis 0.249 Bmis 0.446291797 Bmis Bmis samtools . . . . 0 0 . .
11571.p1 CUL5 11 107944174 G A 25 15 p.V355I 0 exonic nonsynonymous SNV 25.4 Dmis -0.985 Bmis 0.01 Bmis 0.31 Bmis 0.476378746 Bmis Bmis samtools . . . . 0 0 . .
11572.p1 USH2A 1 215963541 T G 49 7 p.I3348L 0 exonic nonsynonymous SNV 16.69 Bmis -0.971 Bmis 0.031 Bmis 0.069 Bmis 0.436563302 Bmis Bmis samtools . . . . 0 0 . ok
11572.p1 SPP1 4 88898103 T C 54 7 . 0 splicing . 23 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . ok
11573.p1 CACNA1G 17 48680533 G A 16 31 "p.R1358Q,p.R1358Q,p.R1358Q,p.R1358Q,p.R1358Q,p.R1358Q,p.R1358Q,p.R1358Q,p.R1381Q,p.R1381Q,p.R1381Q,p.R1381Q,p.R1381Q,p.R1381Q,p.R1381Q,p.R1381Q,p.R1381Q,p.R1381Q,p.R1381Q,p.R1381Q,p.R1381Q,p.R1381Q,p.R1381Q,p.R1381Q,p.R1381Q,p.R1381Q,p.R1381Q,p.R1381Q" 3.25E-05 exonic nonsynonymous SNV 35 Dmis 1.036 Dmis 0.906 Dmis 0.956 Dmis 0.971871937 Dmis Dmis samtools . . . . 0 0 . .
11577.p1 IKZF2 2 213886838 C G 38 19 "p.K197N,p.K171N" 0 exonic nonsynonymous SNV 32 Dmis -0.469 Bmis 0.02 Bmis 0.193 Bmis 0.272557282 Bmis Bmis samtools . . . . 0 0 . .
11577.p1 MYO1E 15 59430484 G A 32 23 p.Q1055X 0 exonic stopgain 47 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
11577.p1 ZNF665 19 53669453 T C 33 29 p.D97G 0 exonic nonsynonymous SNV 4.78 Bmis -0.959 Bmis 0.001 Bmis 0.024 Bmis 0.146414634 Bmis Bmis samtools . . . . 0 0 . .
11581.p1 NSUN7 4 40762471 A C 184 138 "p.I107L,p.I107L" 0 exonic nonsynonymous SNV 22.9 Dmis -0.972 Bmis 0.009 Bmis 0.127 Bmis 0.615255366 Bmis Bmis samtools . . . . 0 0 . .
11583.p1 TSGA10IP 11 65715186 C T 12 11 . 0 exonic unknown 8.532 other: unknown . other: unknown . other: unknown . other: unknown 0.144782658 other: unknown other: unknown samtools . . . . 0 0 . .
11584.p1 KDM2A 11 66999298 G A 33 30 p.R449K 0 exonic nonsynonymous SNV 7.219 Bmis -1.052 Bmis 0.005 Bmis 0.039 Bmis 0.279809986 Bmis Bmis samtools . . . . 0 0 . .
11592.p1 HCLS1 3 121351315 G A 27 7 "p.P331P,p.P368P" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 6 5 21 2 0 0 . no
11597.p1 NTN5 19 49167998 G A 20 42 p.R220C 8.10E-05 exonic nonsynonymous SNV 34 Dmis 0.338 Dmis 0.113 Dmis 0.395 Bmis 0.636079741 Bmis Bmis samtools . . . . 0 0 . .
11599.p1 SYNRG 17 35946557 T G 73 64 "p.D114A,p.D113A,p.D114A,p.D114A,p.D114A,p.D114A,p.D114A" 0 exonic nonsynonymous SNV 28 Dmis -0.939 Bmis 0.011 Bmis 0.413 Bmis 0.184605228 Bmis Bmis samtools . . . . 0 0 . .
11600.p1 SLC9A3R2 16 2086460 C T 15 14 "p.P73S,p.P71S,p.P73S,p.P184S,p.P184S" 0 exonic nonsynonymous SNV 24.6 Dmis -0.717 Bmis 0.154 Dmis 0.343 Bmis 0.745639549 Bmis Bmis samtools . . . . 0 0 . .
11604.p1 ARHGAP45 19 1079991 T C 20 26 "p.M161T,p.M409T,p.M542T,p.M530T,p.M526T" 0 exonic nonsynonymous SNV 7.08 Bmis -1.009 Bmis 0.01 Bmis 0.074 Bmis 0.247322356 Bmis Bmis samtools . . . . 0 0 . .
11608.p1 ZNF141 4 338200 G C 52 8 "p.K69N,p.K69N,p.K69N,p.K69N" 0 exonic nonsynonymous SNV 17.19 Bmis -0.967 Bmis . Bmis 0.025 Bmis 0.126345401 Bmis Bmis samtools . . . . 0 0 . no
11608.p1 AHI1 6 135774505 G A 30 28 "p.R472W,p.R472W,p.R472W,p.R472W,p.R472W,p.R472W" 1.46E-05 exonic nonsynonymous SNV 33 Dmis -0.449 Bmis 0.081 Dmis 0.506 Dmis 0.725991813 Bmis Dmis samtools . . . . 0 0 . .
11608.p1 EIF3B 7 2416614 C G 15 18 "p.F686L,p.F686L" 0 exonic nonsynonymous SNV 25.5 Dmis -0.682 Bmis 0.042 Bmis 0.433 Bmis 0.821538495 Dmis Bmis samtools . . . . 0 0 . .
11609.p1 FGD5 3 14860730 G A 15 6 "p.R51Q,p.R51Q" 5.43E-05 exonic nonsynonymous SNV 0.015 Bmis -0.908 Bmis 0.046 Bmis 0.078 Bmis 0.38842545 Bmis Bmis samtools . . . . 0 0 . ok
11609.p1 OR4C16 11 55340032 G T 46 46 p.M143I 0 exonic nonsynonymous SNV 0.079 Bmis -1.008 Bmis 0.001 Bmis 0.038 Bmis 0.055135567 Bmis Bmis samtools . . . . 0 0 . .
11610.p1 HDLBP 2 242186202 C A 54 55 "p.A606S,p.A639S,p.A639S,p.A639S,p.A639S,p.A639S" 0 exonic nonsynonymous SNV 26.1 Dmis 0.557 Dmis 0.106 Dmis 0.473 Bmis 0.520196358 Bmis Bmis samtools . . . . 0 0 . .
11616.p1 OR2T10 1 248756275 G T 32 26 p.Y265X 0 exonic stopgain 36 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
11620.p1 ELL2 5 95234467 T C 6 6 p.K334K 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11625.p1 ERICH3 1 75037957 T C 22 18 p.E1146G 2.98E-05 exonic nonsynonymous SNV 14.83 Bmis -0.938 Bmis 0.002 Bmis 0.03 Bmis 0.165133753 Bmis Bmis samtools . . . . 0 0 . .
11627.p1 DNAH17 17 76475120 G A 82 13 p.S2660F 5.80E-05 exonic nonsynonymous SNV 23.8 Dmis -0.262 Bmis 0.282 Dmis 0.466 Bmis 0.481543765 Bmis Bmis samtools . . . . 0 0 . ok
11628.p1 UGT2B15 4 69536232 A G 32 27 p.H35H 5.38E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 19 16 13 11 0 0 . .
11628.p1 SMPD1 11 6411833 C G 6 7 "p.P2R,p.P2R,p.P2R" 9.30E-06 exonic nonsynonymous SNV 24.8 Dmis -1.139 Bmis 0.018 Bmis 0.122 Bmis 0.640521576 Bmis Bmis samtools 4 2 2 5 0 0 . .
11630.p1 RICTOR 5 38950661 G T 227 9 "p.R1097S,p.R812S,p.R1097S" 0 exonic nonsynonymous SNV 24.9 Dmis -0.71 Bmis 0.025 Bmis 0.26 Bmis 0.11039205 Bmis Bmis samtools 62 2 165 7 0 0 . ok
11630.p1 CATSPERG 19 38849157 G T 85 6 "p.P444P,p.P484P" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 41 4 44 2 0 0 . no
11641.p1 VWF 12 6094774 C T 71 14 p.G2286R 3.59E-05 exonic nonsynonymous SNV 27.1 Dmis -0.898 Bmis 0.111 Dmis 0.239 Bmis 0.804220613 Dmis Bmis samtools . . . . 0 0 . ok
11642.p1 SSPO 7 149498905 G A 63 7 p.A2453T 0 exonic nonsynonymous SNV 5.909 Bmis . Bmis . Bmis . Bmis 0.066654435 Bmis Bmis samtools . . . . 0 0 . no
11653.p1 ST3GAL3 1 44201955 C T 138 132 "p.R8C,p.R8C,p.R8C,p.R8C,p.R8C,p.R8C,p.R8C,p.R8C,p.R8C,p.R8C,p.R8C,p.R8C,p.R8C,p.R8C,p.R8C,p.R8C,p.R8C,p.R8C,p.R8C,p.R8C" 0 exonic nonsynonymous SNV 27 Dmis 0.207 Dmis 0.108 Dmis 0.629 Dmis 0.933060133 Dmis Dmis samtools . . . . 0 0 . .
11653.p1 TTC21A 3 39162682 T G 60 7 . 0 splicing . 23.7 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . no
11653.p1 ADCY5 3 123046605 G A 21 25 "p.R253C,p.R603C" 5.80E-05 exonic nonsynonymous SNV 34 Dmis 0.544 Dmis 0.165 Dmis 0.807 Dmis 0.91153273 Dmis Dmis samtools . . . . 0 0 . .
11653.p1 NCAN 19 19327837 T G 28 7 . 0 splicing . 24.9 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . no
11654.p1 GNPDA1 5 141384600 A G 26 26 p.M164T 0 exonic nonsynonymous SNV 15.34 Bmis -1.052 Bmis 0.007 Bmis 0.119 Bmis 0.472102515 Bmis Bmis samtools . . . . 0 0 . .
11654.p1 CHD8 14 21871373 T C 25 25 . 0 splicing . 24.4 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
11658.p1 RGL1 1 183895326 T C 45 45 "p.M707T,p.M734T,p.M736T,p.M734T,p.M771T" 4.48E-05 exonic nonsynonymous SNV 4.552 Bmis -1.013 Bmis 0.003 Bmis 0.027 Bmis 0.11039205 Bmis Bmis samtools . . . . 0 0 . .
11658.p1 KIF13B 8 29005051 G A 64 46 p.R628C 5.81E-05 exonic nonsynonymous SNV 33 Dmis -0.004 Bmis 0.246 Dmis 0.426 Bmis 0.902817488 Dmis Bmis samtools . . . . 0 0 . .
11660.p1 NTNG1 1 107867061 C T 12 25 "p.T135I,p.T135I,p.T135I,p.T135I,p.T135I" 0 exonic nonsynonymous SNV 28.2 Dmis 0.627 Dmis 0.163 Dmis 0.884 Dmis 0.915665596 Dmis Dmis samtools . . . . 0 0 . .
11660.p1 CACNA1A 19 13445217 C G 44 44 "p.G391G,p.G391G" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11673.p1 CLASP1 2 122154835 T C 26 30 "p.I974V,p.I980V,p.I1002V,p.I982V" 4.49E-05 exonic nonsynonymous SNV 23.3 Dmis -0.641 Bmis 0.02 Bmis 0.171 Bmis 0.651219268 Bmis Bmis samtools . . . . 0 0 . .
11677.p1 SLX4 16 3640983 C G 43 40 p.V886L 0 exonic nonsynonymous SNV 2.235 Bmis -0.891 Bmis 0.04 Bmis 0.017 Bmis 0.11512431 Bmis Bmis samtools . . . . 0 0 . .
11679.p1 REL 2 61145360 T G 14 9 "p.R190R,p.R190R" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 13 6 1 3 0 0 . .
11679.p1 PSMD8 19 38867064 C G 57 34 p.A169G 0 exonic nonsynonymous SNV 23.3 Dmis -0.629 Bmis 0.027 Bmis 0.452 Bmis 0.352476197 Bmis Bmis samtools . . . . 0 0 . .
11689.p1 ZDHHC22 14 77600191 C A 23 15 p.L209F 0 exonic nonsynonymous SNV 29.8 Dmis -0.882 Bmis 0.039 Bmis 0.129 Bmis 0.23990108 Bmis Bmis samtools . . . . 0 0 . .
11691.p1 AMY2B 1 104121995 G C 119 108 p.G470A 0 exonic nonsynonymous SNV 27 Dmis 0.583 Dmis 0.089 Dmis 0.81 Dmis 0.947662791 Dmis Dmis samtools 71 60 48 48 0 0 . .
11691.p1 SDK1 7 4153784 A G 19 7 p.E1234G 0 exonic nonsynonymous SNV 15.9 Bmis -0.939 Bmis 0.037 Bmis 0.198 Bmis 0.607435053 Bmis Bmis samtools . . . . 0 0 . no
11691.p1 TNPO3 7 128619055 C G 28 6 "p.L617L,p.L681L" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
11693.p1 TTLL5 14 76231014 A G 40 46 p.K536R 0 exonic nonsynonymous SNV 16.26 Bmis -0.988 Bmis 0.007 Bmis 0.064 Bmis 0.071686727 Bmis Bmis samtools . . . . 0 0 . .
11693.p1 MYO15A 17 18039965 C G 48 54 p.L1582V 0 exonic nonsynonymous SNV 13.04 Bmis -0.357 Bmis 0.075 Dmis 0.252 Bmis 0.843543022 Dmis Bmis samtools . . . . 0 0 . .
11696.p1 INCENP 11 61907717 G C 55 32 "p.D435H,p.D435H" 0 exonic nonsynonymous SNV 18.79 Bmis -1.077 Bmis 0.013 Bmis 0.066 Bmis 0.29745827 Bmis Bmis samtools . . . . 0 0 . .
11696.p1 HSPB2 11 111784275 C T 18 20 p.L69F 2.98E-05 exonic nonsynonymous SNV 22.9 Dmis 0.325 Dmis 0.038 Bmis 0.401 Bmis 0.975835563 Dmis Bmis samtools . . . . 0 0 . .
11704.p1 RANBP17 5 170597192 C T 105 97 p.T590M 9.46E-06 exonic nonsynonymous SNV 25.3 Dmis -1.055 Bmis 0.007 Bmis 0.111 Bmis 0.305730144 Bmis Bmis samtools . . . . 0 0 . .
11704.p1 LAMC3 9 133952690 A G 11 17 p.Y1249C 0 exonic nonsynonymous SNV 0.013 Bmis -1.039 Bmis 0.006 Bmis 0.007 Bmis 0.215109475 Bmis Bmis samtools . . . . 0 0 . .
11707.p1 PDCD1 2 242795110 G T 9 10 p.N33K 0 exonic nonsynonymous SNV 6.652 Bmis -1.077 Bmis 0.005 Bmis 0.064 Bmis 0.590021812 Bmis Bmis samtools . . . . 0 0 . .
11707.p1 EXT1 8 118830726 T G 62 9 p.H527P 0 exonic nonsynonymous SNV 20.5 Dmis -0.792 Bmis 0.017 Bmis 0.369 Bmis 0.919158322 Dmis Bmis samtools . . . . 0 0 . no
11714.p1 PRG4 1 186276052 A C 55 6 "p.T267P,p.T308P,p.T360P,p.T358P,p.T401P" 6.79E-05 exonic nonsynonymous SNV 0.001 Bmis -0.922 Bmis 0.004 Bmis 0.024 Bmis 0.013882241 Bmis Bmis samtools 22 4 33 2 0 0 . no
11714.p1 ENG 9 130577968 A G 10 10 "p.M657T,p.M475T" 7.70E-05 exonic nonsynonymous SNV 24.9 Dmis -1.005 Bmis 0.019 Bmis 0.122 Bmis 0.350252656 Bmis Bmis samtools 5 4 5 6 0 0 . .
11714.p1 DMBT1 10 124345599 A C 112 85 "p.R485R,p.R495R,p.R495R" 3.63E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 46 35 66 50 0 0 . .
11720.p1 ATP13A2 1 17313659 G T 101 7 "p.R945R,p.R984R,p.R989R" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 49 4 52 3 0 0 . no
11720.p1 FAM161B 14 74411405 G T 83 6 p.A249A 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 49 5 34 1 0 0 . no
11721.p1 SLC16A5 17 73096566 G A 29 23 "p.E270K,p.E270K" 5.96E-05 exonic nonsynonymous SNV 23.4 Dmis -0.988 Bmis 0.013 Bmis 0.247 Bmis 0.722153682 Bmis Bmis samtools . . . . 0 0 . .
11721.p1 CEBPG 19 33870437 A C 21 17 "p.K98Q,p.K98Q" 0 exonic nonsynonymous SNV 23.3 Dmis -0.958 Bmis 0.016 Bmis 0.236 Bmis 0.76440983 Dmis Bmis samtools . . . . 0 0 . .
11722.p1 APAF1 12 99076979 T C 89 82 "p.V691A,p.V691A,p.V702A,p.V702A" 0 exonic nonsynonymous SNV 27.1 Dmis 0.151 Dmis 0.084 Dmis 0.798 Dmis 0.853540687 Dmis Dmis samtools . . . . 0 0 . .
11724.p1 VIT 2 37014392 G T 62 19 "p.G308V,p.G307V,p.G329V,p.G322V,p.G344V" 3.25E-05 exonic nonsynonymous SNV 33 Dmis 0.098 Dmis 0.155 Dmis 0.903 Dmis 0.904404303 Dmis Dmis samtools . . . . 0 0 . no
11724.p1 PABPC3 13 25670691 G T 165 9 p.V119F 0 exonic nonsynonymous SNV 0.007 Bmis -0.939 Bmis 0.001 Bmis 0.333 Bmis 0.216624797 Bmis Bmis samtools . . . . 0 0 . no
11724.p1 PABPC3 13 25670703 G T 182 13 p.G123C 0 exonic nonsynonymous SNV 24.1 Dmis -0.27 Bmis 0.002 Bmis 0.377 Bmis 0.815965383 Dmis Bmis samtools . . . . 0 0 . no
11724.p1 SLC25A5 X 118603925 G A 25 6 p.R138H 2.59E-05 exonic nonsynonymous SNV 25.9 Dmis 0.778 Dmis 0.126 Dmis 0.899 Dmis 0.980474015 Dmis Dmis samtools . . . . 0 0 . no
11724.p1 SLC25A5 X 118603941 T C 17 6 p.A143A 8.34E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
11724.p1 SLC25A5 X 118603958 G A 18 6 p.G149E 1.28E-05 exonic nonsynonymous SNV 22.8 Dmis -0.365 Bmis 0.025 Bmis 0.432 Bmis 0.911605702 Dmis Bmis samtools . . . . 0 0 . no
11726.p1 TKTL2 4 164394334 C T 32 31 p.V185M 3.25E-05 exonic nonsynonymous SNV 24.4 Dmis -1.035 Bmis 0.009 Bmis 0.145 Bmis 0.380394305 Bmis Bmis samtools . . . . 0 0 . .
11729.p1 KMT5B 11 67926275 G A 23 26 "p.A273V,p.A513V,p.A341V" 6.54E-05 exonic nonsynonymous SNV 27.1 Dmis -0.612 Bmis 0.035 Bmis 0.271 Bmis 0.067524289 Bmis Bmis samtools . . . . 0 0 . .
11731.p1 PKHD1 6 51889890 G C 21 18 "p.P1573R,p.P1573R" 0 exonic nonsynonymous SNV 25.1 Dmis 1.082 Dmis 0.282 Dmis 0.879 Dmis 0.993383964 Dmis Dmis samtools . . . . 0 0 . .
11731.p1 UBQLN3 11 5530104 T C 39 25 "p.M229V,p.M229V" 6.54E-05 exonic nonsynonymous SNV 17.41 Bmis -0.924 Bmis 0.01 Bmis 0.113 Bmis 0.250039746 Bmis Bmis samtools . . . . 0 0 . .
11733.p1 GOLGA3 12 133381371 C G 18 10 "p.E510Q,p.E510Q" 0 exonic nonsynonymous SNV 19.65 Bmis -0.041 Bmis 0.063 Dmis 0.295 Bmis 0.626694708 Bmis Bmis samtools . . . . 0 0 . .
11734.p1 RLF 1 40702530 G A 175 29 p.C719Y 0 exonic nonsynonymous SNV 25.4 Dmis -0.036 Bmis 0.047 Bmis 0.673 Dmis 0.820374209 Dmis Dmis samtools . . . . 0 0 . ok
11734.p1 ERCC3 2 128015262 G C 86 14 "p.A753A,p.A689A,p.A689A" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . ok
11736.p1 BCL2L11 2 111881511 G A 23 9 "p.P63P,p.P63P,p.P63P,p.P63P,p.P63P,p.P63P" 3.25E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . ok
11736.p1 HIST1H3G 6 26271503 T C 10 20 p.K37R 0 exonic nonsynonymous SNV 17.02 Bmis -0.682 Bmis 0.008 Bmis 0.199 Bmis 0.161159177 Bmis Bmis samtools . . . . 0 0 . .
11736.p1 CNN2 19 1037781 C A 15 6 "p.P232H,p.P260H,p.P292H,p.P271H" 9.09E-06 exonic nonsynonymous SNV 32 Dmis -0.888 Bmis 0.135 Dmis 0.328 Bmis 0.506311304 Bmis Bmis samtools . . . . 0 0 . no
11740.p1 AGO1 1 36367118 C T 27 23 "p.T280I,p.T355I" 0 exonic nonsynonymous SNV 28.7 Dmis -0.63 Bmis 0.064 Dmis 0.645 Dmis 0.746610922 Bmis Dmis samtools . . . . 0 0 . .
11740.p1 SCAND1 20 34542214 G C 12 8 p.A61G 0 exonic nonsynonymous SNV -1 Bmis . Bmis . Bmis . Bmis . Bmis Bmis samtools . . . . 0 0 . .
11773.p1 KRBA1 7 149420891 C G 36 32 . 0 exonic unknown 23.8 other: unknown -0.785 other: unknown 0.05 other: unknown 0.248 other: unknown 0.246215685 other: unknown other: unknown samtools . . . . 0 0 . .
11776.p1 CTCF 16 67660530 A C 48 38 "p.H149P,p.H477P" 0 exonic nonsynonymous SNV 22.5 Dmis -0.809 Bmis 0.029 Bmis 0.539 Dmis 0.830750876 Dmis Dmis samtools . . . . 0 0 . .
11782.p1 PLOD3 7 100856461 C T 22 12 p.R235Q 6.55E-05 exonic nonsynonymous SNV 12.32 Bmis -1.012 Bmis 0.025 Bmis 0.053 Bmis 0.32661666 Bmis Bmis samtools . . . . 0 0 . .
11782.p1 FAM180B 11 47609658 C T 9 8 p.S75F 0 exonic nonsynonymous SNV 24.2 Dmis -0.494 Bmis 0.012 Bmis 0.233 Bmis 0.427024045 Bmis Bmis samtools . . . . 0 0 . .
11788.p1 YTHDC2 5 112868624 C T 65 61 "p.R80C,p.R242C" 0 exonic nonsynonymous SNV 34 Dmis -0.998 Bmis 0.042 Bmis 0.555 Dmis 0.31568525 Bmis Dmis samtools . . . . 0 0 . .
11788.p1 BSPRY 9 116122804 G A 26 37 "p.A106A,p.A106A,p.A106A" 9.78E-06 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11793.p1 ABCA3 16 2347351 G T 38 7 p.L748M 0 exonic nonsynonymous SNV 7.491 Bmis -0.77 Bmis 0.014 Bmis 0.287 Bmis 0.616901191 Bmis Bmis samtools . . . . 0 0 . ok
11798.p1 MEGF8 19 42867226 C G 30 23 "p.Q1962E,p.Q2029E" 0 exonic nonsynonymous SNV 10.33 Bmis -1.089 Bmis 0.015 Bmis 0.074 Bmis 0.067524289 Bmis Bmis samtools . . . . 0 0 . .
11800.p1 BMP3 4 81967605 C T 8 10 p.R344W 4.49E-05 exonic nonsynonymous SNV 22.8 Dmis -0.824 Bmis 0.043 Bmis 0.194 Bmis 0.71784775 Bmis Bmis samtools . . . . 0 0 . .
11800.p1 SLC16A10 6 111540158 T A 94 75 p.L410I 0 exonic nonsynonymous SNV 22.8 Dmis -1.004 Bmis 0.033 Bmis 0.288 Bmis 0.583177445 Bmis Bmis samtools . . . . 0 0 . .
11800.p1 IL33 9 6256030 C G 45 35 "p.S99S,p.S183S,p.S183S,p.S225S,p.S225S,p.S219S,p.S219S,p.S225S" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11800.p1 SOX6 11 16117556 G C 42 43 "p.H376D,p.H363D" 0 exonic nonsynonymous SNV 16.47 Bmis -0.073 Bmis 0.041 Bmis 0.453 Bmis 0.987534776 Dmis Bmis samtools . . . . 0 0 . .
11800.p1 FANCA 16 89845384 G T 25 28 "p.S581S,p.S581S" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11810.p1 SLC22A1 6 160560787 G T 209 8 "p.P388P,p.P388P" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 170 7 39 1 0 0 . no
11810.p1 IL15RA 10 5995148 G T 41 6 "p.S169R,p.S205R,p.S202R,p.S238R,p.S324R" 9.14E-06 exonic nonsynonymous SNV 14.64 Bmis -1.077 Bmis 0.004 Bmis 0.003 Bmis 0.161159177 Bmis Bmis samtools 5 1 36 5 0 0 . no
11810.p1 SERPINF2 17 1657560 G T 195 8 "p.R339L,p.R403L,p.R403L" 0 exonic nonsynonymous SNV 34 Dmis 0.322 Dmis 0.229 Dmis 0.747 Dmis 0.942959347 Dmis Dmis samtools 140 4 55 4 0 0 . no
11812.p1 HSP90AA1 14 102552409 G C 17 24 "p.S72C,p.S194C" 8.96E-06 exonic nonsynonymous SNV 27.1 Dmis 0.879 Dmis 0.488 Dmis 0.268 Bmis 0.852434887 Dmis Bmis samtools . . . . 0 0 . .
11824.p1 USP13 3 179481956 G T 82 6 p.T753T 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 10 1 72 5 0 0 . no
11825.p1 GLYAT 11 58482897 C T 17 28 . 0 splicing . 23.6 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
11828.p1 TRRAP 7 98506430 G A 26 32 "p.V399I,p.V399I" 3.08E-05 exonic nonsynonymous SNV 24.4 Dmis -0.567 Bmis 0.004 Bmis 0.185 Bmis 0.463873965 Bmis Bmis samtools 16 18 10 14 0 0 . .
11838.p1 CLCC1 1 109490271 A G 16 12 "p.L101L,p.L101L,p.L101L,p.L101L" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11838.p1 KLHDC10 7 129767258 C T 41 39 p.R316X 0 exonic stopgain 47 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
11841.p1 DNAJC6 1 65858181 A G 12 12 "p.Q512Q,p.Q455Q,p.Q442Q" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11841.p1 PXDNL 8 52320634 G A 24 28 p.L1184L 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11843.p1 SESN2 1 28595739 G A 8 8 p.A46T 8.99E-06 exonic nonsynonymous SNV 26 Dmis -1.115 Bmis 0.01 Bmis 0.08 Bmis 0.423716097 Bmis Bmis samtools . . . . 0 0 . .
11843.p1 ZNF687 1 151260029 G C 21 6 "p.R421P,p.R421P,p.R421P" 9.08E-06 exonic nonsynonymous SNV 26.9 Dmis -0.723 Bmis 0.01 Bmis 0.123 Bmis 0.278932317 Bmis Bmis samtools . . . . 0 0 . no
11843.p1 LTN1 21 30318550 C A 43 42 "p.G1215X,p.G1229X" 0 exonic stopgain 37 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
11845.p1 BLK 8 11415531 T C 34 51 "p.I267T,p.I338T" 9.75E-05 exonic nonsynonymous SNV 24.9 Dmis 0.276 Dmis 0.159 Dmis 0.882 Dmis 0.94995453 Dmis Dmis samtools . . . . 0 0 . .
11845.p1 KRT16 17 39766665 A G 62 15 p.Y400H 0 exonic nonsynonymous SNV 25.1 Dmis 1.079 Dmis 0.271 Dmis 0.914 Dmis 0.883421445 Dmis Dmis samtools . . . . 0 0 . ok
11855.p1 FN1 2 216245617 C T 14 23 "p.R1693K,p.R1693K,p.R1784K,p.R1784K" 0 exonic nonsynonymous SNV 24.4 Dmis -0.776 Bmis 0.015 Bmis 0.227 Bmis 0.805191682 Dmis Bmis samtools . . . . 0 0 . .
11859.p1 ZNF804A 2 185800736 C G 49 50 p.Q205E 0 exonic nonsynonymous SNV 13.02 Bmis -1.01 Bmis 0.005 Bmis 0.09 Bmis 0.158540858 Bmis Bmis samtools . . . . 0 0 . .
11860.p1 GIGYF1 7 100279943 A G 14 11 . 0 splicing . 22.5 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
11863.p1 SLC25A5 X 118603864 G A 31 6 p.A118T 3.89E-05 exonic nonsynonymous SNV 24.1 Dmis 0.011 Dmis 0.113 Dmis 0.772 Dmis 0.972251795 Dmis Dmis samtools . . . . 0 0 . no
11869.p1 YWHAB 20 43533616 G A 73 53 "p.V144V,p.V144V" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11872.p1 CACNA1D 3 53764493 C G 81 111 "p.A749G,p.A749G,p.A769G" 0 exonic nonsynonymous SNV 29.6 Dmis 1.108 Dmis 0.58 Dmis 0.943 Dmis 0.931311086 Dmis Dmis samtools . . . . 0 0 . .
11872.p1 KATNAL2 18 44603833 G C 91 89 . 0 splicing . 24.4 LGD . LGD . LGD . LGD 0.950882304 LGD LGD samtools . . . . 0 0 . .
11872.p1 DGCR2 22 19109657 G C 19 6 "p.T21T,p.T21T,p.T21T,p.T21T" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
11872.p1 TTC28 22 28501597 G T 46 69 p.R993R 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11888.p1 DSPP 4 88537396 C T 31 8 p.D1194D 6.65E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 17 4 14 4 0 0 . no
11888.p1 ZNF397;ZSCAN30 18 32834343 C T 16 14 "p.G186S,p.G186S,p.P265L" 8.98E-06 exonic nonsynonymous SNV 12.77 Bmis -1.005 Bmis 0.003 Bmis 0.018 Bmis 0.419212061 Bmis Bmis samtools . . . . 0 0 . .
11895.p1 GMFG 19 39819156 A G 23 36 "p.T89T,p.T130T" 8.96E-06 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11909.p1 SRCAP 16 30740437 G A 8 15 p.G1937S 6.53E-05 exonic nonsynonymous SNV 24 Dmis -0.123 Bmis 0.047 Bmis 0.268 Bmis 0.303174743 Bmis Bmis samtools . . . . 0 0 . .
11909.p1 IFI30 19 18288571 C G 39 40 p.Y229X 0 exonic stopgain 36 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
11909.p1 XRN2 20 21319718 A G 28 9 "p.R502G,p.R424G" 0 exonic nonsynonymous SNV 22.7 Dmis -1.032 Bmis 0.04 Bmis 0.117 Bmis 0.093489767 Bmis Bmis samtools . . . . 0 0 . ok
11917.p1 KDR 4 55968172 G T 36 27 p.R720R 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11931.p1 UBR3 2 170885884 C T 25 24 p.H1494H 0 exonic synonymous SNV . synonymous . synonymous . synonymous 0.074 synonymous . synonymous synonymous samtools . . . . 0 0 . .
11931.p1 ALDH18A1 10 97371016 C G 51 45 "p.D491H,p.D592H,p.D592H,p.D668H,p.D590H,p.D701H,p.D703H,p.D703H,p.D701H,p.D703H" 0 exonic nonsynonymous SNV 23.2 Dmis -0.418 Bmis 0.06 Dmis 0.341 Bmis 0.494858889 Bmis Bmis samtools . . . . 0 0 . .
11937.p1 NUP188 9 131715118 C A 30 37 p.P52T 0 exonic nonsynonymous SNV 25.4 Dmis -1.092 Bmis 0.007 Bmis 0.053 Bmis 0.342631996 Bmis Bmis samtools . . . . 0 0 . .
11942.p1 ERVFRD-1 6 11104151 G C 54 12 p.R465G 9.77E-05 exonic nonsynonymous SNV 15.56 Bmis -1.003 Bmis 0.002 Bmis 0.05 Bmis 0.165133753 Bmis Bmis samtools . . . . 0 0 . no
11942.p1 AGK 7 141341066 C A 52 6 p.Q249K 0 exonic nonsynonymous SNV 19.22 Bmis -1.075 Bmis 0.006 Bmis 0.029 Bmis 0.342400093 Bmis Bmis samtools . . . . 0 0 . no
11942.p1 SLC22A9 11 63177286 C G 62 75 p.P538P 5.83E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11944.p1 PCDHGB1 5 140732011 C T 30 29 "p.C728C,p.C728C" 8.95E-06 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11947.p1 RP1L1 8 10467629 T C 80 6 p.T1327A 0 exonic nonsynonymous SNV 0.001 Bmis -0.921 Bmis . Bmis 0.013 Bmis . Bmis Bmis samtools . . . . 0 0 . no
11947.p1 MDM2 12 69233432 G A 103 68 "p.E231K,p.E257K,p.E378K,p.E380K,p.E433K" 0 exonic nonsynonymous SNV 24.2 Dmis -0.76 Bmis 0.024 Bmis 0.16 Bmis 0.617593048 Bmis Bmis samtools . . . . 0 0 . .
11947.p1 MADCAM1 19 501738 C A 29 10 p.P246Q 0 exonic nonsynonymous SNV 1.273 Bmis -0.947 Bmis . Bmis 0.018 Bmis . Bmis Bmis samtools 11 4 18 6 0 0 . no
11948.p1 KTI12 1 52499097 G C 14 6 p.P113A 0 exonic nonsynonymous SNV 5.964 Bmis -0.996 Bmis . Bmis 0.025 Bmis 0.224531998 Bmis Bmis samtools 12 5 2 1 0 0 . no
11948.p1 IRAK2 3 10280451 C G 6 6 p.A498G 9.01E-05 exonic nonsynonymous SNV 10.49 Bmis -1.034 Bmis 0.01 Bmis 0.016 Bmis 0.545217796 Bmis Bmis samtools . . . . 0 0 . .
11953.p1 TAF9 5 68661075 T C 38 43 "p.T164A,p.T164A" 0 exonic nonsynonymous SNV 12.42 Bmis -1.06 Bmis 0.006 Bmis 0.071 Bmis 0.757273606 Dmis Bmis samtools . . . . 0 0 . .
11954.p1 PRR23A 3 138724627 G A 20 26 p.P162S 0 exonic nonsynonymous SNV 0.004 Bmis -1.014 Bmis 0.002 Bmis 0.097 Bmis 0.029773718 Bmis Bmis samtools . . . . 0 0 . .
11957.p1 LRRC19 9 26997891 G C 47 52 p.L144V 0 exonic nonsynonymous SNV 12.36 Bmis -0.415 Bmis 0.031 Bmis 0.532 Dmis 0.820772214 Dmis Dmis samtools . . . . 0 0 . .
11959.p1 DSPP 4 88536457 T C 145 23 p.D881D 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 83 10 62 13 0 0 . no
11959.p1 KCNMB4 12 70760580 G T 23 6 p.L22F 6.66E-05 exonic nonsynonymous SNV 15.16 Bmis -1.02 Bmis 0.139 Dmis 0.049 Bmis 0.143184339 Bmis Bmis samtools . . . . 0 0 . no
11959.p1 EFNB1 X 68060191 T G 38 9 p.G245G 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
11962.p1 CERS6 2 169417831 A G 51 56 "p.M136V,p.M136V" 3.25E-05 exonic nonsynonymous SNV 12.58 Bmis -0.292 Bmis 0.077 Dmis 0.643 Dmis 0.831854584 Dmis Dmis samtools . . . . 0 0 . .
11962.p1 TRPM7 15 50923683 T C 17 25 "p.T379A,p.T379A" 9.00E-06 exonic nonsynonymous SNV 26.3 Dmis -0.415 Bmis 0.027 Bmis 0.623 Dmis 0.57220863 Bmis Dmis samtools . . . . 0 0 . .
11963.p1 SPSB1 1 9427536 C T 20 15 p.R242C 0 exonic nonsynonymous SNV 35 Dmis 0.875 Dmis 0.225 Dmis 0.812 Dmis 0.8299206 Dmis Dmis samtools . . . . 0 0 . .
11963.p1 CTSH 15 79217696 A G 24 28 "p.Y262Y,p.Y128Y" 1.79E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11964.p1 TEPP 16 58011869 G A 16 22 "p.R105H,p.R105H" 6.56E-05 exonic nonsynonymous SNV 33 Dmis 0.294 Dmis 0.166 Dmis 0.461 Bmis 0.748550708 Bmis Bmis samtools . . . . 0 0 . .
11964.p1 ZC3H12B X 64708914 G A 75 70 p.R78H 3.76E-05 exonic nonsynonymous SNV 24.2 Dmis -0.997 Bmis 0.011 Bmis 0.145 Bmis 0.438548062 Bmis Bmis samtools . . . . 0 0 . .
11978.p1 HECW2 2 197106887 G A 69 65 "p.R835W,p.R1191W,p.R1191W" 0 exonic nonsynonymous SNV 31 Dmis 0.407 Dmis 0.23 Dmis 0.698 Dmis 0.938997332 Dmis Dmis samtools . . . . 0 0 . .
11978.p1 PLOD2 3 145799604 T C 14 17 "p.N427D,p.N427D" 4.49E-05 exonic nonsynonymous SNV 28.2 Dmis 0.786 Dmis 0.207 Dmis 0.871 Dmis 0.921059773 Dmis Dmis samtools . . . . 0 0 . .
11978.p1 NFYA 6 41060773 G A 30 33 "p.R250R,p.R279R" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11978.p1 ANO9 11 420716 A T 19 15 . 0 splicing . 23.5 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
11984.p1 PDE6C 10 95372793 G A 14 16 p.R104Q 5.96E-05 exonic nonsynonymous SNV 28.6 Dmis -0.062 Bmis 0.032 Bmis 0.383 Bmis 0.933202918 Dmis Bmis samtools . . . . 0 0 . .
11986.p1 CYP4B1 1 47279691 G T 157 8 "p.G81V,p.G80V,p.G229V,p.G243V,p.G244V" 0 exonic nonsynonymous SNV 26.5 Dmis 0.527 Dmis 0.075 Dmis 0.803 Dmis 0.858591103 Dmis Dmis samtools 56 1 101 7 0 0 . no
11986.p1 DCTN1 2 74597859 T C 139 128 "p.M179V,p.M179V,p.M293V,p.M276V,p.M306V,p.M313V" 0 exonic nonsynonymous SNV 24.2 Dmis 0.432 Dmis 0.307 Dmis 0.605 Dmis 0.925793786 Dmis Dmis samtools . . . . 0 0 . .
11986.p1 COPG1 3 128974928 C A 304 10 p.S170R 4.50E-05 exonic nonsynonymous SNV 23 Dmis -1.132 Bmis 0.021 Bmis 0.328 Bmis 0.710693012 Bmis Bmis samtools 232 9 72 1 0 0 . no
11986.p1 TEK 9 27205030 G T 144 21 "p.V630V,p.V734V,p.V777V" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
11986.p1 OR5B2 11 58190129 G T 103 8 p.S202R 2.99E-05 exonic nonsynonymous SNV 17.91 Bmis -0.904 Bmis 0.008 Bmis 0.158 Bmis 0.316788115 Bmis Bmis samtools . . . . 0 0 . no
11986.p1 ZNF493 19 21606744 C T 39 35 "p.T300I,p.T428I" 0 exonic nonsynonymous SNV 23.8 Dmis -0.965 Bmis 0.001 Bmis 0.076 Bmis 0.449088464 Bmis Bmis samtools 24 18 15 17 0 0 . .
11989.p1 FAM220A 7 6370498 T G 16 9 p.S96S 6.59E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
11990.p1 FRMD1 6 168462591 G A 25 7 "p.T246I,p.T314I" 0 exonic nonsynonymous SNV 4.622 Bmis -0.937 Bmis 0.016 Bmis 0.255 Bmis 0.619705229 Bmis Bmis samtools . . . . 0 0 . ok
11990.p1 TMPRSS6 22 37482443 G A 10 12 "p.R285C,p.R285C,p.R294C" 7.35E-05 exonic nonsynonymous SNV 30 Dmis -0.518 Bmis 0.078 Dmis 0.36 Bmis 0.874213444 Dmis Bmis samtools . . . . 0 0 . .
11995.p1 DSPP 4 88537306 T C 24 6 p.D1164D 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 14 3 10 3 0 0 . no
12009.p1 MICAL2 11 12278507 A G 75 51 "p.D797G,p.D818G,p.D854G,p.D1023G,p.D1023G,p.D1023G,p.D1044G,p.D1023G,p.D1023G,p.D1023G,p.D1023G,p.D1023G,p.D1044G,p.D1044G" 0 exonic nonsynonymous SNV 26.3 Dmis 0.526 Dmis 0.081 Dmis 0.786 Dmis 0.881325803 Dmis Dmis samtools . . . . 0 0 . .
12011.p1 AP2M1 3 183898694 C G 77 6 p.R161G 0 exonic nonsynonymous SNV 33 Dmis -0.825 Bmis 0.021 Bmis 0.172 Bmis 0.546690766 Bmis Bmis samtools . . . . 0 0 . no
12011.p1 FAM45A 10 120877119 G A 46 65 "p.G68S,p.G141S,p.G133S" 2.98E-05 exonic nonsynonymous SNV 28.2 Dmis -0.159 Bmis 0.01 Bmis 0.639 Dmis 0.752575 Dmis Dmis samtools 11 25 35 40 0 0 . .
12011.p1 LIPE 19 42910539 G A 11 15 p.G713G 8.99E-06 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
12014.p1 WDR76 15 44128398 C A 126 22 "p.P134T,p.P198T" 0 exonic nonsynonymous SNV 21.2 Dmis -0.963 Bmis 0.008 Bmis 0.025 Bmis 0.482061805 Bmis Bmis samtools . . . . 0 0 . ok
12015.p1 RTL1 14 101349770 C T 22 6 p.E452E 1.77E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
12015.p1 PACS2 14 105843213 G A 22 20 "p.D304N,p.D229N,p.D304N" 0 exonic nonsynonymous SNV 30 Dmis -1.141 Bmis 0.025 Bmis 0.189 Bmis 0.387796008 Bmis Bmis samtools . . . . 0 0 . .
12019.p1 MSANTD2 11 124637785 G A 13 7 "p.R93C,p.R323C,p.R93C,p.R271C" 4.48E-05 exonic nonsynonymous SNV 32 Dmis -0.471 Bmis 0.003 Bmis 0.538 Dmis 0.581819388 Bmis Dmis samtools . . . . 0 0 . .
12019.p1 MOCOS 18 33831180 C T 29 18 p.R700C 6.50E-05 exonic nonsynonymous SNV 26.9 Dmis -0.854 Bmis 0.017 Bmis 0.289 Bmis 0.572140348 Bmis Bmis samtools . . . . 0 0 . .
12026.p1 TNKS 8 9473105 C T 37 52 p.H304H 6.56E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
12026.p1 ABCG1 21 43691209 G A 96 81 "p.G106R,p.G106R,p.G117R,p.G103R,p.G108R,p.G84R" 7.81E-05 exonic nonsynonymous SNV 28.5 Dmis 0.991 Dmis 0.584 Dmis 0.906 Dmis 0.973848044 Dmis Dmis samtools . . . . 0 0 . .
12029.p1 IL27RA 19 14161680 C T 18 29 p.R505W 4.51E-05 exonic nonsynonymous SNV 22.3 Dmis -1.02 Bmis 0.019 Bmis 0.075 Bmis 0.254761475 Bmis Bmis samtools . . . . 0 0 . .
12030.p1 MRPS21 1 150280647 G A 11 18 "p.P83P,p.P83P" 6.53E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
12035.p1 TRIP12 2 230650558 C T 55 49 "p.R1325Q,p.R1628Q,p.R1628Q,p.R1623Q,p.R1623Q,p.R1596Q,p.R1595Q,p.R1643Q,p.R1643Q,p.R1665Q,p.R1665Q,p.R1666Q,p.R1670Q,p.R1670Q,p.R1670Q,p.R1670Q,p.R1671Q,p.R1671Q,p.R1671Q,p.R1644Q,p.R1670Q,p.R1670Q,p.R1636Q" 0 exonic nonsynonymous SNV 35 Dmis 0.009 Dmis 0.537 Dmis 0.684 Dmis 0.918107357 Dmis Dmis samtools . . . . 0 0 . .
12036.p1 LRRK1 15 101567898 G A 8 17 p.R861H 5.85E-05 exonic nonsynonymous SNV 34 Dmis 0.16 Dmis 0.136 Dmis 0.501 Dmis 0.883281548 Dmis Dmis samtools . . . . 0 0 . .
12036.p1 NINL 20 25459809 T A 22 14 "p.K651X,p.K651X" 0 exonic stopgain 35 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
12044.p1 SLC22A6 11 62751916 A T 13 21 "p.S83T,p.S83T,p.S83T,p.S83T" 0 exonic nonsynonymous SNV 3.939 Bmis -1.028 Bmis 0.004 Bmis 0.029 Bmis 0.3731733 Bmis Bmis samtools . . . . 0 0 . .
12055.p1 PM20D1 1 205797834 A G 88 97 p.Y475H 0 exonic nonsynonymous SNV 23.9 Dmis -0.813 Bmis 0.024 Bmis 0.372 Bmis 0.224531998 Bmis Bmis samtools . . . . 0 0 . .
12055.p1 PLD5 1 242383342 T C 104 32 "p.K20R,p.K166R,p.K136R,p.K228R" 0 exonic nonsynonymous SNV 11.99 Bmis -1.042 Bmis 0.003 Bmis 0.058 Bmis 0.17377179 Bmis Bmis samtools . . . . 0 0 . ok
12055.p1 ZNF860 3 32030783 T C 39 36 p.M71T 0 exonic nonsynonymous SNV 0.017 Bmis -0.902 Bmis 0.007 Bmis 0.04 Bmis 0.130388298 Bmis Bmis samtools . . . . 0 0 . .
12055.p1 ITGA3 17 48145447 C T 40 50 p.L148L 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
12057.p1 DNAAF1 16 84193294 G C 43 28 p.L252F 0 exonic nonsynonymous SNV 25.8 Dmis -0.881 Bmis 0.031 Bmis 0.361 Bmis 0.742825676 Bmis Bmis samtools . . . . 0 0 . .
12058.p1 LYST 1 235973332 T C 10 13 "p.L262L,p.L262L" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
12058.p1 GRK4 4 3031020 C G 41 36 "p.P191A,p.P353A,p.P353A,p.P385A,p.P385A" 0 exonic nonsynonymous SNV 26 Dmis -0.344 Bmis 0.026 Bmis 0.641 Dmis 0.638579438 Bmis Dmis samtools . . . . 0 0 . .
12086.p1 RIMS2 8 104778570 G A 94 85 "p.R168Q,p.R168Q,p.R168Q,p.R168Q,p.R168Q,p.R168Q,p.R168Q,p.R172Q,p.R172Q,p.R172Q,p.R172Q,p.R172Q,p.R208Q,p.R212Q,p.R212Q" 3.59E-05 exonic nonsynonymous SNV 21.6 Dmis -1.088 Bmis 0.009 Bmis 0.055 Bmis 0.402330501 Bmis Bmis samtools . . . . 0 0 . .
12086.p1 SRPRA 11 126134982 C T 26 34 "p.R438H,p.R466H" 8.96E-06 exonic nonsynonymous SNV 35 Dmis -0.122 Bmis 0.023 Bmis 0.561 Dmis 0.546761818 Bmis Dmis samtools . . . . 0 0 . .
12086.p1 FOXP3 X 49113935 T G 39 7 "p.T100P,p.T135P" 3.40E-05 exonic nonsynonymous SNV 0.056 Bmis 0.239 Dmis 0.089 Dmis 0.442 Bmis 0.849771741 Dmis Bmis samtools . . . . 0 0 . no
12087.p1 HNRNPR 1 23637301 C G 14 18 "p.R356S,p.R377S,p.R415S,p.R418S,p.R478S,p.R519S,p.R516S" 0 exonic nonsynonymous SNV 8.595 Bmis -1.099 Bmis 0.022 Bmis 0.204 Bmis 0.637017391 Bmis Bmis samtools 9 12 5 6 0 0 . .
12093.p1 ANXA6 5 150518993 G T 50 8 "p.A10D,p.A42D" 0 exonic nonsynonymous SNV 33 Dmis -1.206 Bmis 0.033 Bmis 0.494 Bmis 0.728936049 Bmis Bmis samtools . . . . 0 0 . no
12093.p1 DOT1L 19 2214494 C T 17 13 p.Q608X 0 exonic stopgain 36 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
12099.p1 BCL6 3 187446290 T G 38 11 "p.S466S,p.S466S,p.S466S" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . ok
12103.p1 BCO1 16 81295822 C T 65 9 p.F135F 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 46 5 19 4 0 0 . ok
12111.p1 RBMXL1 1 89448896 A T 130 8 "p.V205D,p.V205D" 8.99E-06 exonic nonsynonymous SNV 11.95 Bmis -0.977 Bmis 0.011 Bmis 0.185 Bmis 0.436563302 Bmis Bmis samtools 44 4 86 4 0 0 . no
12121.p1 MPP4 2 202539975 A C 85 6 p.W317G 0 exonic nonsynonymous SNV 24.7 Dmis -0.063 Bmis 0.251 Dmis 0.656 Dmis 0.910700704 Dmis Dmis samtools 26 2 59 4 0 0 . no
12153.p1 NUP133 1 229596508 T C 31 17 p.S898S 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
12161.p1 UBR3 2 170732430 A C 68 50 p.N272T 0 exonic nonsynonymous SNV 22.7 Dmis -1.061 Bmis 0.018 Bmis 0.147 Bmis 0.043077524 Bmis Bmis samtools . . . . 0 0 . .
12161.p1 NAXD 13 111290774 C T 9 9 "p.Q205X,p.Q315X,p.Q297X" 0 exonic stopgain 13.17 LGD -0.924 LGD . LGD 0.047 LGD 0.400176278 LGD LGD samtools . . . . 0 0 . .
12173.p1 DOCK3 3 51370653 A C 30 6 p.T1194P 5.39E-05 exonic nonsynonymous SNV 26.7 Dmis -0.257 Bmis 0.045 Bmis 0.59 Dmis 0.886544452 Dmis Dmis samtools 20 1 10 5 0 0 . no
12173.p1 ST5 11 8752500 C T 18 8 "p.A113T,p.A113T" 6.53E-05 exonic nonsynonymous SNV 3.927 Bmis -0.948 Bmis 0.005 Bmis 0.087 Bmis 0.245697972 Bmis Bmis samtools 9 4 9 4 0 0 . .
12173.p1 PLIN4 19 4511365 C G 58 15 p.V855V 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 27 11 31 4 0 0 . no
12173.p1 KANK3 19 8389549 T G 42 6 p.T750P 0 exonic nonsynonymous SNV 12.53 Bmis -0.923 Bmis 0.031 Bmis 0.05 Bmis 0.576573652 Bmis Bmis samtools 26 5 16 1 0 0 . no
12180.p1 FBXO43 8 101153250 G C 42 21 p.A411G 0 exonic nonsynonymous SNV 0.004 Bmis -1.044 Bmis 0.005 Bmis 0.025 Bmis 0.212797465 Bmis Bmis samtools . . . . 0 0 . .
12184.p1 CPSF2 14 92620782 A G 44 10 "p.K254K,p.K407K,p.K407K,p.K407K" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . ok
12184.p1 AP1S2 X 15870623 G A 43 34 "p.R9C,p.R9C" 0 exonic nonsynonymous SNV 32 Dmis 0.297 Dmis 0.417 Dmis 0.469 Bmis 0.909847764 Dmis Bmis samtools 17 5 26 29 0 0 . .
12208.p1 KRT3 12 53189449 T A 25 7 p.G126G 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 13 4 12 3 0 0 . no
12210.p1 ITGB4 17 73738467 G C 13 7 "p.S893S,p.S893S,p.S893S,p.S893S" 9.04E-06 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
12211.p1 CTNNB1 3 41275346 G A 31 21 "p.W504X,p.W504X,p.W504X,p.W497X" 0 exonic stopgain 44 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
12211.p1 CDH24 14 23524438 C T 25 29 "p.R109Q,p.R109Q" 4.48E-05 exonic nonsynonymous SNV 32 Dmis 0.623 Dmis 0.129 Dmis 0.566 Dmis 0.864803185 Dmis Dmis samtools . . . . 0 0 . .
12212.p1 DDR2 1 162737120 A G 19 18 "p.R422G,p.R422G" 0 exonic nonsynonymous SNV 25.1 Dmis 0.212 Dmis 0.143 Dmis 0.165 Bmis 0.951795135 Dmis Bmis samtools 10 6 9 12 0 0 . .
12212.p1 PCNT 21 47754471 G A 83 6 "p.R25H,p.R143H" 0 exonic nonsynonymous SNV 9.735 Bmis -0.877 Bmis 0.003 Bmis 0.078 Bmis 0.307966526 Bmis Bmis samtools 44 3 39 3 0 0 . no
12219.p1 COL5A3 19 10091481 C T 19 20 . 0 splicing . 25.4 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
12228.p1 SEPHS2 16 30455767 G A 170 8 . 9.05E-06 exonic unknown 24.3 other: unknown -0.917 other: unknown 0.032 other: unknown 0.332 other: unknown 0.656414397 other: unknown other: unknown samtools 72 3 98 5 0 0 . no
12228.p1 GIP 17 47039101 A C 62 6 p.V113G 0 exonic nonsynonymous SNV 0.001 Bmis -1.02 Bmis 0.002 Bmis 0.017 Bmis 0.084691592 Bmis Bmis samtools 31 5 31 1 0 0 . no
12237.p1 DOCK4 7 111368478 T G 8 6 p.H1918P 0 exonic nonsynonymous SNV 18.93 Bmis -0.814 Bmis 0.029 Bmis 0.088 Bmis 0.612046066 Bmis Bmis samtools . . . . 0 0 . .
12249.p1 PNPLA7 9 140357232 T G 125 111 "p.S1108R,p.S1133R" 0 exonic nonsynonymous SNV 26.7 Dmis -0.294 Bmis 0.217 Dmis 0.656 Dmis 0.468917364 Bmis Dmis samtools . . . . 0 0 . .
12295.p1 VPS13A 9 79929009 G T 63 6 "p.V1367L,p.V1406L,p.V1406L,p.V1406L" 0 exonic nonsynonymous SNV 13.92 Bmis -0.905 Bmis 0.009 Bmis 0.033 Bmis 0.300449992 Bmis Bmis samtools 20 4 43 2 0 0 . no
12295.p1 SMUG1 12 54576134 G T 73 6 "p.R85R,p.R187R,p.R187R,p.R187R,p.R187R,p.R187R,p.R187R,p.R187R,p.R187R,p.R187R,p.R187R,p.R187R,p.R187R,p.R85R,p.R187R,p.R187R,p.R187R,p.R187R,p.R187R,p.R187R,p.R187R,p.R187R,p.R187R" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 53 4 20 2 0 0 . no
12308.p1 TXNDC2 18 9887407 G A 50 7 "p.E311K,p.E244K" 6.57E-05 exonic nonsynonymous SNV 13.68 Bmis -1.015 Bmis 0.003 Bmis 0.064 Bmis 0.202949471 Bmis Bmis samtools 26 4 24 3 0 0 . no
12316.p1 ZNF559 19 9451802 A T 53 49 "p.K126I,p.K20I,p.K126I,p.K90I,p.K62I,p.K62I,p.K62I,p.K62I" 0 exonic nonsynonymous SNV 24.1 Dmis -0.833 Bmis 0.003 Bmis 0.05 Bmis 0.337868961 Bmis Bmis samtools . . . . 0 0 . .
12324.p1 COPZ1 12 54735998 C T 29 26 "p.D9D,p.D32D,p.D40D,p.D32D" 5.96E-05 exonic synonymous SNV . synonymous . synonymous . synonymous 0.039 synonymous . synonymous synonymous samtools . . . . 0 0 . .
12324.p1 HERC2 15 28369345 G T 27 31 p.P4342P 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
12335.p1 NUP50 22 45574555 G T 58 7 "p.T259T,p.T231T" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 30 6 28 1 0 0 . no
12336.p1 ADGRF1 6 46976699 A C 21 13 p.A824A 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
12368.p1 KRTAP4-3 17 39324228 C A 48 9 p.R66M 0 exonic nonsynonymous SNV 0.006 Bmis -1.062 Bmis 0 Bmis 0.128 Bmis 0.04010828 Bmis Bmis samtools 25 6 23 3 0 0 . no
12373.p1 HCLS1 3 121351315 G A 37 9 "p.P331P,p.P368P" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 2 1 35 8 0 0 . no
12401.p1 MFSD9 2 103353220 G A 9 10 p.S17L 9.00E-06 exonic nonsynonymous SNV 11.25 Bmis -1.027 Bmis 0.199 Dmis 0.048 Bmis 0.252681307 Bmis Bmis samtools 5 7 4 3 0 0 . .
12401.p1 LTBR 12 6495266 C T 38 42 "p.P150P,p.P169P" 5.38E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 25 21 13 21 0 0 . .
12401.p1 METTL7B 12 56077809 C T 10 15 p.H237H 1.79E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 2 4 8 11 0 0 . .
12414.p1 TRPM6 9 77407627 A G 42 46 "p.G812G,p.G812G,p.G817G" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
12414.p1 PLD4 14 105395251 C G 25 46 "p.N157K,p.N150K" 0 exonic nonsynonymous SNV 15.49 Bmis -1.088 Bmis 0.021 Bmis 0.06 Bmis 0.154104183 Bmis Bmis samtools . . . . 0 0 . .
12426.p1 SLC4A2 7 150768836 G T 29 18 "p.G742V,p.G737V,p.G751V,p.G751V" 0 exonic nonsynonymous SNV 25.7 Dmis 0.893 Dmis 0.3 Dmis 0.899 Dmis 0.961109949 Dmis Dmis samtools 18 13 11 5 0 0 . .
12429.p1 FAM200B 4 15689874 G A 5 9 p.W425X 0 exonic stopgain 36 LGD . LGD . LGD . LGD . LGD LGD samtools 3 7 2 2 0 0 . .
12456.p1 RPL23A 17 27049876 G A 16 10 p.K115K 0 exonic synonymous SNV . synonymous . synonymous . synonymous 0.183 synonymous . synonymous synonymous samtools 10 9 6 1 0 0 . .
12485.p1 MUS81 11 65629462 A G 15 15 "p.P132P,p.P132P" 9.23E-06 exonic synonymous SNV . synonymous . synonymous . synonymous 0.418 synonymous . synonymous synonymous samtools . . . . 0 0 . .
12493.p1 TRIM6 11 5632063 C T 66 49 "p.R145W,p.R145W,p.R348W,p.R320W" 6.50E-05 exonic nonsynonymous SNV 25.1 Dmis -1.059 Bmis 0.014 Bmis 0.084 Bmis 0.226586394 Bmis Bmis samtools . . . . 0 0 . .
12494.p1 INTS7 1 212190300 C G 40 22 "p.S97T,p.S146T,p.S146T,p.S146T" 0 exonic nonsynonymous SNV 31 Dmis -0.9 Bmis 0.007 Bmis 0.33 Bmis 0.636775756 Bmis Bmis samtools . . . . 0 0 . .
12494.p1 FLRT1 11 63884337 C G 9 15 p.L200V 0 exonic nonsynonymous SNV 22.8 Dmis -0.93 Bmis 0.036 Bmis 0.274 Bmis 0.520854431 Bmis Bmis samtools . . . . 0 0 . .
12498.p1 CPA4 7 129938587 G T 41 59 "p.D24Y,p.D24Y" 0 exonic nonsynonymous SNV 25.7 Dmis -0.894 Bmis 0.043 Bmis 0.236 Bmis 0.728253083 Bmis Bmis samtools 28 42 13 17 0 0 . .
12515.p1 CLCN7 16 1510886 G T 23 21 "p.L115I,p.L139I" 0 exonic nonsynonymous SNV 22.7 Dmis -0.185 Bmis 0.119 Dmis 0.413 Bmis 0.449421072 Bmis Bmis samtools . . . . 0 0 . .
12522.p1 CYLC1 X 83128308 A T 19 12 p.K198X 0 exonic stopgain 35 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
12532.p1 FRYL 4 48514594 T G 104 20 p.E2683D 0 exonic nonsynonymous SNV 0.093 Bmis -1.041 Bmis 0.004 Bmis 0.142 Bmis 0.168254555 Bmis Bmis samtools . . . . 0 0 . ok
12532.p1 MSANTD3 9 103213020 A G 80 69 "p.E200E,p.E200E,p.E200E" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
12540.p1 OR4E2 14 22133429 A G 39 31 p.I45V 0 exonic nonsynonymous SNV 4.457 Bmis -0.717 Bmis 0.004 Bmis 0.174 Bmis 0.132336056 Bmis Bmis samtools 22 16 17 15 0 0 . .
12563.p1 DSPP 4 88536917 G A 39 6 p.D1035N 0 exonic nonsynonymous SNV 10.63 Bmis -0.739 Bmis 0.038 Bmis 0.123 Bmis 0.423954403 Bmis Bmis samtools 19 3 20 3 0 0 . no
12588.p1 NRROS 3 196387092 T C 16 6 p.I193T 0 exonic nonsynonymous SNV 25.4 Dmis 0.422 Dmis 0.095 Dmis 0.644 Dmis 0.80701871 Dmis Dmis samtools . . . . 0 0 . ok
12588.p1 TEKT1 17 6716262 G T 60 53 p.S247Y 0 exonic nonsynonymous SNV 15.84 Bmis -1.087 Bmis 0.015 Bmis 0.124 Bmis 0.202086225 Bmis Bmis samtools . . . . 0 0 . .
12603.p1 DDI2 1 15956938 T G 51 47 p.P129P 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
12603.p1 L1TD1 1 62672433 T C 24 11 "p.C45R,p.C45R" 0 exonic nonsynonymous SNV 0.006 Bmis -0.948 Bmis 0.002 Bmis 0.016 Bmis 0.29278752 Bmis Bmis samtools . . . . 0 0 . .
12603.p1 MCUB 4 110605762 A C 113 11 p.N259T 0 exonic nonsynonymous SNV 11.21 Bmis -1.008 Bmis 0.003 Bmis 0.102 Bmis 0.176091769 Bmis Bmis samtools . . . . 0 0 . no
12603.p1 GPLD1 6 24445849 T G 94 20 p.T649P 0 exonic nonsynonymous SNV 22.1 Dmis -0.961 Bmis 0.033 Bmis 0.336 Bmis 0.726385611 Bmis Bmis samtools . . . . 0 0 . no
12603.p1 ETFBKMT 12 31820918 G A 12 11 "p.Q261Q,p.Q261Q,p.Q261Q" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
12603.p1 MAP2K3 17 21204265 G T 153 22 "p.C91F,p.C120F,p.C91F" 0 exonic nonsynonymous SNV 32 Dmis -0.049 Bmis 0.047 Bmis 0.641 Dmis 0.944750287 Dmis Dmis samtools . . . . 0 0 . no
12603.p1 PTPRS 19 5225807 C A 99 19 "p.V787L,p.V809L" 0 exonic nonsynonymous SNV 24.7 Dmis -0.219 Bmis 0.08 Dmis 0.448 Bmis 0.604516277 Bmis Bmis samtools . . . . 0 0 . no
12603.p1 SRPX2 X 99919886 T G 51 7 p.G157G 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
12608.p1 AAGAB 15 67528398 G T 33 9 "p.R15R,p.R15R,p.R124R" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 10 2 23 7 0 0 . ok
12610.p1 DNAH1 3 52391980 G T 33 6 p.V1349V 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . ok
12610.p1 ZNF254 19 24310034 G T 43 6 "p.C326F,p.C326F,p.C338F,p.C411F,p.C370F,p.C370F,p.C370F" 0 exonic nonsynonymous SNV 24.9 Dmis 0.583 Dmis 0.001 Bmis 0.444 Bmis 0.721808717 Bmis Bmis samtools . . . . 0 0 . no
12633.p1 CECR2 22 17990869 G A 79 7 p.A136T 0 exonic nonsynonymous SNV 19.34 Bmis -1.019 Bmis 0.01 Bmis 0.06 Bmis 0.344251167 Bmis Bmis samtools . . . . 0 0 . no
12637.p1 RNPEPL1 2 241517061 G A 74 65 p.G644S 3.27E-05 exonic nonsynonymous SNV 26.4 Dmis -0.657 Bmis 0.386 Dmis 0.278 Bmis 0.647617135 Bmis Bmis samtools . . . . 0 0 . .
12646.p1 SDK1 7 4050739 C A 21 6 p.T758K 0 exonic nonsynonymous SNV 32 Dmis -0.28 Bmis 0.19 Dmis 0.489 Bmis 0.817185577 Dmis Bmis samtools . . . . 0 0 . no
12646.p1 SLC6A5 11 20628644 G A 116 21 "p.Q23Q,p.Q257Q" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
12648.p1 SACS 13 23914892 C G 31 19 "p.Q894H,p.Q1041H" 0 exonic nonsynonymous SNV 0.006 Bmis -0.82 Bmis 0.016 Bmis 0.156 Bmis 0.631068765 Bmis Bmis samtools . . . . 0 0 . .
12657.p1 GHRHR 7 31013624 G T 56 6 p.A208S 0 exonic nonsynonymous SNV 2.093 Bmis -1.022 Bmis 0.01 Bmis 0.104 Bmis 0.425851741 Bmis Bmis samtools 43 4 13 2 0 0 . no
12674.p1 NASP 1 46073828 G A 48 6 "p.R351R,p.R415R" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 25 1 23 5 0 0 . no
12674.p1 CRIPAK 4 1388350 G A 43 6 p.T17T 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 17 3 26 3 0 0 . no
12717.p1 FAM83G 17 18874722 A G 30 34 p.S808P 0 exonic nonsynonymous SNV 8.585 Bmis -0.964 Bmis 0.009 Bmis 0.046 Bmis 0.213573922 Bmis Bmis samtools 20 23 10 11 0 0 . .
12742.p1 CCDC57 17 80086416 G A 50 46 p.R767C 6.94E-05 exonic nonsynonymous SNV 22.5 Dmis -1.002 Bmis 0.002 Bmis 0.009 Bmis 0.337135697 Bmis Bmis samtools 40 32 10 14 0 0 . .
12752.p1 ETFB 19 51848515 C A 59 51 "p.E331X,p.E240X" 0 exonic stopgain 43 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
12788.p1 SPX 12 21684093 A G 26 27 p.Q105Q 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
12791.p1 CHSY1 15 101718110 T A 13 10 p.D631V 0 exonic nonsynonymous SNV 26.1 Dmis 0.197 Dmis 0.246 Dmis 0.892 Dmis 0.875911796 Dmis Dmis samtools 10 5 3 5 0 0 . .
12792.p1 MROH7 1 55167767 G A 13 21 "p.R615Q,p.R1097Q" 9.53E-06 exonic nonsynonymous SNV 28.5 Dmis -0.966 Bmis 0.009 Bmis 0.155 Bmis 0.219573609 Bmis Bmis samtools . . . . 0 0 . .
12792.p1 BIRC6 2 32707616 C T 54 61 p.N2554N 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
12799.p1 ENPP2 8 120580466 A G 50 30 "p.Y694H,p.Y719H,p.Y715H,p.Y746H" 5.81E-05 exonic nonsynonymous SNV 28.4 Dmis -0.139 Bmis 0.059 Dmis 0.575 Dmis 0.863753637 Dmis Dmis samtools . . . . 0 0 . .
12803.p1 ERP44 9 102784415 C T 79 88 p.R127Q 0 exonic nonsynonymous SNV 35 Dmis -0.558 Bmis 0.046 Bmis 0.605 Dmis 0.72605959 Bmis Dmis samtools . . . . 0 0 . .
12809.p1 PPP1R16A 8 145726525 C T 8 6 "p.R351W,p.R351W,p.R351W,p.R351W,p.R351W" 8.78E-05 exonic nonsynonymous SNV 34 Dmis 0.049 Dmis 0.737 Dmis 0.599 Dmis 0.907276744 Dmis Dmis samtools 5 3 3 3 0 0 . .
12809.p1 S1PR2 19 10334557 G A 18 9 p.T342M 1.06E-05 exonic nonsynonymous SNV 22.8 Dmis -0.639 Bmis 0.056 Dmis 0.135 Bmis 0.794080883 Dmis Bmis samtools 9 4 9 5 0 0 . .
12850.p1 KRTAP4-11;KRTAP4-8 17 39274426 T A 56 6 p.S48C 0 exonic nonsynonymous SNV 16.35 Bmis -1.119 Bmis 0.006 Bmis 0.117 Bmis 0.208000268 Bmis Bmis samtools . . . . 0 0 . no
12850.p1 RPS6KA3 X 20227514 G A 11 35 p.V45V 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
12867.p1 TRIM23 5 64892348 C T 40 35 "p.V440V,p.V440V,p.V440V" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
12867.p1 PPP1R15A 19 49376940 A C 87 53 p.T150T 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
12867.p1 POU3F4 X 82764134 A G 21 17 p.S268G 0 exonic nonsynonymous SNV 14.88 Bmis 0.187 Dmis 0.103 Dmis 0.37 Bmis 0.91914476 Dmis Bmis samtools . . . . 0 0 . .
12879.p1 ZBTB49 4 4304312 C A 17 20 "p.T250N,p.T250N" 8.97E-06 exonic nonsynonymous SNV 0.01 Bmis -0.95 Bmis 0.002 Bmis 0.043 Bmis 0.048227956 Bmis Bmis samtools 16 14 1 6 0 0 . .
12892.p1 ADAM18 8 39502957 G C 62 57 "p.C313S,p.C337S" 6.55E-05 exonic nonsynonymous SNV 24.1 Dmis 0.279 Dmis 0.03 Bmis 0.663 Dmis 0.752181141 Dmis Dmis samtools . . . . 0 0 . .
12901.p1 AKR1D1 7 137776536 C T 27 33 "p.P95L,p.P95L,p.P95L" 0 exonic nonsynonymous SNV 26.7 Dmis -0.394 Bmis 0.034 Bmis 0.389 Bmis 0.780064526 Dmis Bmis samtools . . . . 0 0 . .
12901.p1 DGAT1 8 145545015 C T 16 21 p.R86H 0 exonic nonsynonymous SNV 35 Dmis -0.932 Bmis 0.032 Bmis 0.351 Bmis 0.617317951 Bmis Bmis samtools . . . . 0 0 . .
12901.p1 CCDC88C 14 91772130 C G 14 18 p.Q1112H 0 exonic nonsynonymous SNV 23.3 Dmis -1.129 Bmis 0.009 Bmis 0.074 Bmis 0.420817142 Bmis Bmis samtools . . . . 0 0 . .
12901.p1 ZNF555 19 2852524 A G 15 17 "p.H153R,p.H154R" 0 exonic nonsynonymous SNV 0.001 Bmis -1.021 Bmis 0.004 Bmis 0.112 Bmis 0.360363287 Bmis Bmis samtools 11 13 4 4 0 0 . .
12907.p1 LSG1 3 194373781 C T 17 16 p.E284K 3.25E-05 exonic nonsynonymous SNV 11.71 Bmis -1.056 Bmis 0.003 Bmis 0.086 Bmis 0.136095386 Bmis Bmis samtools 7 2 10 14 0 0 . .
12913.p1 DSPP 4 88537306 T C 15 10 p.D1164D 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 9 8 6 2 0 0 . .
12916.p1 TRDMT1 10 17199484 G T 23 17 "p.D200E,p.D235E,p.D281E,p.D281E,p.D281E,p.D210E,p.D210E,p.D210E" 0 exonic nonsynonymous SNV 23.6 Dmis -0.432 Bmis 0.067 Dmis 0.364 Bmis 0.774993095 Dmis Bmis samtools . . . . 0 0 . .
12933.p1 PCMTD1 8 52733143 A G 70 6 "p.V205A,p.V105A,p.V281A" 9.08E-06 exonic nonsynonymous SNV 10.08 Bmis -1.042 Bmis 0.004 Bmis 0.036 Bmis 0.302123355 Bmis Bmis samtools 30 4 40 2 0 0 . no
12933.p1 MADCAM1 19 501738 C A 60 8 p.P246Q 0 exonic nonsynonymous SNV 1.273 Bmis -0.947 Bmis . Bmis 0.018 Bmis . Bmis Bmis samtools 17 5 43 3 0 0 . no
12938.p1 FBXO10 9 37537193 A C 11 9 p.F445V 1.79E-05 exonic nonsynonymous SNV 8.423 Bmis -0.578 Bmis 0.094 Dmis 0.477 Bmis 0.807331641 Dmis Bmis samtools 4 4 7 5 0 0 . .
12956.p1 SLC23A1 5 138715015 C T 13 19 "p.A318A,p.A322A" 9.75E-05 exonic synonymous SNV . synonymous . synonymous . synonymous 0.061 synonymous . synonymous synonymous samtools . . . . 0 0 . .
12956.p1 ARHGAP28 18 6890533 C T 16 15 p.L454L 9.05E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
12956.p1 ZNF532 18 56585676 G A 14 8 "p.A53T,p.A53T,p.A53T,p.A53T" 3.25E-05 exonic nonsynonymous SNV 3.103 Bmis -0.897 Bmis 0.007 Bmis 0.022 Bmis 0.067524289 Bmis Bmis samtools . . . . 0 0 . .
12967.p1 TBC1D2 9 100962646 C T 14 9 "p.R363H,p.R823H" 3.43E-05 exonic nonsynonymous SNV 22 Dmis -0.666 Bmis 0.077 Dmis 0.578 Dmis 0.703872679 Bmis Dmis samtools . . . . 0 0 . .
12987.p1 HCLS1 3 121351315 G A 48 13 "p.P331P,p.P368P" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 13 4 35 9 0 0 . no
12991.p1 ITGB2 21 46309390 C T 9 6 "p.G560R,p.G560R,p.G491R" 7.71E-05 exonic nonsynonymous SNV 23.6 Dmis 0.533 Dmis 0.394 Dmis 0.513 Dmis 0.907409456 Dmis Dmis samtools . . . . 0 0 . .
12997.p1 ADGRE1 19 6926380 G A 69 55 "p.G523S,p.G487S,p.G612S,p.G599S,p.G664S" 0 exonic nonsynonymous SNV 22.1 Dmis -1.042 Bmis 0.005 Bmis 0.118 Bmis 0.264547087 Bmis Bmis samtools 61 46 8 9 0 0 . .
13005.p1 CUL9 6 43184100 G A 8 9 p.E2047E 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 7 6 1 3 0 0 . .
13008.p1 ZNF721 4 435737 T C 21 17 p.E840G 0 exonic nonsynonymous SNV 9.823 Bmis -1.043 Bmis 0.001 Bmis 0.019 Bmis 0.132336056 Bmis Bmis samtools 13 7 8 10 0 0 . .
13018.p1 MCOLN3 1 85488002 C T 31 34 "p.G337S,p.G393S" 1.80E-05 exonic nonsynonymous SNV 23 Dmis -1.044 Bmis 0.022 Bmis 0.082 Bmis 0.723644998 Bmis Bmis samtools . . . . 0 0 . .
13018.p1 VPS4A 16 69353364 G A 29 28 p.V180M 0 exonic nonsynonymous SNV 33 Dmis 0.992 Dmis 0.752 Dmis 0.843 Dmis 0.846766189 Dmis Dmis samtools . . . . 0 0 . .
13034.p1 FBXO2 1 11710080 A C 122 7 p.V148G 0 exonic nonsynonymous SNV 30 Dmis -0.466 Bmis 0.176 Dmis 0.433 Bmis 0.635940165 Bmis Bmis samtools 89 1 33 6 0 0 . no
13037.p1 STRN4 19 47228172 C A 15 12 "p.A503S,p.A496S" 0 exonic nonsynonymous SNV 9.017 Bmis -0.995 Bmis 0.018 Bmis 0.073 Bmis 0.138757227 Bmis Bmis samtools 3 1 12 11 0 0 . .
13038.p1 MBNL1 3 152018116 T C 79 56 "p.V45A,p.V45A,p.V45A,p.V45A,p.V45A,p.V45A,p.V45A" 0 exonic nonsynonymous SNV 19.59 Bmis -0.405 Bmis 0.014 Bmis 0.316 Bmis 0.801669723 Dmis Bmis samtools . . . . 0 0 . .
13050.p1 HIPK4 19 40886787 G C 9 10 p.L371V 0 exonic nonsynonymous SNV 0.043 Bmis -1.001 Bmis 0.085 Dmis 0.084 Bmis 0.837143294 Dmis Bmis samtools 3 4 6 6 0 0 . .
13060.p1 NACC1 19 13246969 T C 31 32 . 0 splicing . 22.8 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
13080.p1 IVL 1 152882982 C G 27 6 p.Q237E 0 exonic nonsynonymous SNV 0.001 Bmis -0.943 Bmis . Bmis 0.014 Bmis 0.167679373 Bmis Bmis samtools 12 3 15 3 0 0 . no
13089.p1 UPF3A 13 115057116 G A 30 22 "p.R199Q,p.R232Q" 7.29E-05 exonic nonsynonymous SNV 33 Dmis 0.363 Dmis 0.066 Dmis 0.283 Bmis 0.980072289 Dmis Bmis samtools 13 9 17 13 0 0 . .
13092.p1 PABPC1 8 101718981 T A 57 6 p.A500A 0 exonic synonymous SNV . synonymous . synonymous . synonymous 0.039 synonymous . synonymous synonymous samtools . . . . 0 0 . no
13096.p1 CFAP74 1 1890629 C T 71 36 p.G594E 0 exonic nonsynonymous SNV 22.8 Dmis -0.107 Bmis . Bmis 0.496 Bmis 0.104622675 Bmis Bmis samtools . . . . 0 0 . .
13096.p1 RBM27 5 145613205 G A 21 16 p.G348D 6.92E-05 exonic nonsynonymous SNV 24.3 Dmis -1.013 Bmis 0.02 Bmis 0.192 Bmis 0.377451072 Bmis Bmis samtools . . . . 0 0 . .
13096.p1 LAMA3 18 21470001 C A 40 6 "p.P168H,p.P168H,p.P1777H,p.P1777H" 0 exonic nonsynonymous SNV 29.8 Dmis 0.48 Dmis 0.454 Dmis 0.523 Dmis 0.788822609 Dmis Dmis samtools . . . . 0 0 . no
13104.p1 ZNF678 1 227843134 C A 13 9 p.H450N 0 exonic nonsynonymous SNV 23.5 Dmis 0.108 Dmis 0.008 Bmis 0.27 Bmis 0.588950487 Bmis Bmis samtools 10 4 3 5 0 0 . .
13120.p1 PRAMEF12 1 12837167 C T 18 15 p.P293S 0 exonic nonsynonymous SNV 11.53 Bmis -0.93 Bmis 0.002 Bmis 0.078 Bmis 0.143124449 Bmis Bmis samtools . . . . 0 0 . .
13123.p1 HGC6.3 6 168377261 T C 80 7 p.Q24Q 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 35 4 45 3 0 0 . no
13125.p1 ADAMTS7 15 79080700 C T 17 8 p.D399N 0 exonic nonsynonymous SNV 34 Dmis 1.072 Dmis 0.306 Dmis 0.912 Dmis 0.944012909 Dmis Dmis samtools . . . . 0 0 . .
13125.p1 RAD21L1 20 1210539 C T 46 12 p.R54X 0 exonic stopgain 40 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . ok
13143.p1 RUNDC1 17 41132986 C T 7 6 "p.F131F,p.F131F" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 4 5 3 1 0 0 . .
13158.p1 ZBED4 22 50279386 C T 89 73 p.Y692Y 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13177.p1 PLAC4 21 42551141 T A 219 9 p.T139S 0 exonic nonsynonymous SNV -1 Bmis . Bmis . Bmis . Bmis . Bmis Bmis samtools 142 7 77 2 0 0 . no
13190.p1 SMAP2 1 40875459 T A 28 44 "p.Y88X,p.Y113X,p.Y38X,p.Y118X" 0 exonic stopgain 36 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
13197.p1 NR3C2 4 149073677 G T 48 36 "p.S701X,p.S818X" 0 exonic stopgain 46 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
13221.p1 OR2T4 1 248525179 T C 82 41 p.S99S 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 49 23 33 18 0 0 . .
13221.p1 SLC9A3 5 479989 C T 23 15 "p.E528K,p.E537K" 8.95E-06 exonic nonsynonymous SNV 17.41 Bmis -0.58 Bmis 0.026 Bmis 0.28 Bmis 0.776053737 Dmis Bmis samtools . . . . 0 0 . .
13254.p1 P3H1 1 43213394 C T 49 46 "p.T638T,p.T638T,p.T638T" 8.95E-06 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13254.p1 CMPK2 2 6990025 G A 24 12 p.Q436X 0 exonic stopgain 36 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
13254.p1 SAMD7 3 169644647 G C 10 8 "p.E199D,p.E199D" 0 exonic nonsynonymous SNV 1.388 Bmis -0.994 Bmis 0.007 Bmis 0.066 Bmis 0.46707484 Bmis Bmis samtools . . . . 0 0 . .
13256.p1 POLQ 3 121209103 A G 36 32 p.V892A 0 exonic nonsynonymous SNV 10.71 Bmis -1 Bmis 0.003 Bmis 0.098 Bmis 0.437958778 Bmis Bmis samtools . . . . 0 0 . .
13256.p1 BRD4 19 15375549 T C 4 9 "p.D293G,p.D293G,p.D293G" 0 exonic nonsynonymous SNV 23.4 Dmis -0.491 Bmis 0.085 Dmis 0.41 Bmis 0.685278125 Bmis Bmis samtools . . . . 0 0 . .
13283.p1 FYCO1 3 45999926 G C 7 21 p.P1258R 0 exonic nonsynonymous SNV 4.517 Bmis -1.042 Bmis 0.004 Bmis 0.056 Bmis 0.225215365 Bmis Bmis samtools . . . . 0 0 . .
13283.p1 TMEM120A 7 75617050 A G 11 16 . 0 exonic unknown 16.95 other: unknown . other: unknown . other: unknown . other: unknown 0.252162846 other: unknown other: unknown samtools . . . . 0 0 . .
13283.p1 SRRM2 16 2811996 C T 14 11 p.T489T 3.25E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13311.p1 CPSF3 2 9588447 A C 40 46 "p.T418P,p.T418P,p.T316P,p.T455P,p.T459P" 0 exonic nonsynonymous SNV 21.4 Dmis -1.02 Bmis 0.016 Bmis 0.103 Bmis 0.65227048 Bmis Bmis samtools . . . . 0 0 . .
13314.p1 MAB21L3 1 116675758 G A 64 63 p.V287V 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13333.p1 POLRMT 19 630058 G A 17 17 p.Q102X 0 exonic stopgain 24.6 LGD . LGD . LGD . LGD . LGD LGD samtools 7 10 10 7 0 0 . .
13334.p1 COLEC12 18 348118 C T 89 69 p.R76H 4.49E-05 exonic nonsynonymous SNV 19.3 Bmis -1.059 Bmis 0.003 Bmis 0.071 Bmis 0.067524289 Bmis Bmis samtools . . . . 0 0 . .
13336.p1 PEX11B 1 145517271 A G 38 31 . 0 splicing . . LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
13336.p1 TNIK 3 170783991 A G 112 93 "p.C1236C,p.C1291C,p.C1265C,p.C1244C,p.C1320C,p.C1299C,p.C1273C,p.C1328C" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13336.p1 KIAA1755 20 36869368 C T 9 6 p.A389T 0 exonic nonsynonymous SNV 0.321 Bmis -1.041 Bmis 0.015 Bmis 0.029 Bmis 0.088499295 Bmis Bmis samtools . . . . 0 0 . .
13340.p1 FAM151A 1 55081794 G A 79 50 p.A105V 0 exonic nonsynonymous SNV 13.91 Bmis -1.04 Bmis 0.004 Bmis 0.012 Bmis 0.048227956 Bmis Bmis samtools . . . . 0 0 . .
13340.p1 ATP5O 21 35288056 T C 30 27 p.P4P 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13349.p1 NUAK1 12 106461269 G A 30 25 p.Q433X 0 exonic stopgain 38 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
13364.p1 RIPOR3 20 49214197 G A 9 13 "p.C570C,p.C566C" 9.19E-06 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 2 5 7 8 0 0 . .
13365.p1 MDM1 12 68696451 G T 54 23 "p.P606T,p.P641T" 0 exonic nonsynonymous SNV 24 Dmis -0.854 Bmis 0.011 Bmis 0.238 Bmis 0.488337271 Bmis Bmis samtools . . . . 0 0 . ok
13366.p1 CLCA2 1 86900408 G C 56 55 p.V318L 0 exonic nonsynonymous SNV 24.1 Dmis -1.101 Bmis 0.007 Bmis 0.113 Bmis 0.177238963 Bmis Bmis samtools . . . . 0 0 . .
13367.p1 NLGN2 17 7318418 C T 9 11 p.R330C 0 exonic nonsynonymous SNV 32 Dmis 0.439 Dmis 0.063 Dmis 0.632 Dmis 0.950072232 Dmis Dmis samtools 4 8 5 3 0 0 . .
13368.p1 CLN3 16 28495432 A G 62 54 "p.L129L,p.L151L,p.L175L,p.L229L,p.L205L,p.L229L" 1.88E-05 exonic synonymous SNV 5.631 synonymous . synonymous . synonymous . synonymous 0.755175034 synonymous synonymous samtools . . . . 0 0 . .
13370.p1 HCLS1 3 121351315 G A 51 6 "p.P331P,p.P368P" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 22 4 29 2 0 0 . no
13371.p1 SDC3 1 31349764 T C 14 18 p.T169A 0 exonic nonsynonymous SNV 0.004 Bmis -0.989 Bmis 0.006 Bmis 0.011 Bmis 0.043077524 Bmis Bmis samtools . . . . 0 0 . .
13371.p1 MTF2 1 93580638 C T 68 45 "p.T57I,p.T159I,p.T159I,p.T57I" 0 exonic nonsynonymous SNV 23.6 Dmis -0.046 Bmis 0.052 Dmis 0.359 Bmis 0.517338291 Bmis Bmis samtools . . . . 0 0 . .
13375.p1 DSPP 4 88536553 C T 49 6 p.D913D 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 19 5 30 1 0 0 . no
13375.p1 USP30 12 109510128 C T 43 36 "p.P200S,p.P169S" 0 exonic nonsynonymous SNV 21.2 Dmis -1.062 Bmis 0.004 Bmis 0.072 Bmis 0.304435446 Bmis Bmis samtools . . . . 0 0 . .
13376.p1 CD151 11 836366 C T 9 16 "p.A67V,p.A67V,p.A67V,p.A67V" 9.06E-06 exonic nonsynonymous SNV 25.9 Dmis -0.588 Bmis 0.271 Dmis 0.503 Dmis 0.879667514 Dmis Dmis samtools . . . . 0 0 . .
13381.p1 SMYD1 2 88409886 A G 7 16 "p.Q430R,p.Q443R" 0 exonic nonsynonymous SNV 23.6 Dmis -0.805 Bmis 0.049 Bmis 0.472 Bmis 0.701061676 Bmis Bmis samtools . . . . 0 0 . .
13382.p1 HIST1H2AD 6 26199406 G A 37 6 p.A22A 6.59E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
13383.p1 HADHB 2 26508387 G A 30 26 "p.R431Q,p.R446Q,p.R424Q" 3.58E-05 exonic nonsynonymous SNV 22.9 Dmis -0.452 Bmis 0.034 Bmis 0.166 Bmis 0.910813906 Dmis Bmis samtools . . . . 0 0 . .
13391.p1 PCDHB1 5 140431157 A G 88 11 p.S34S 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
13393.p1 BLVRA 7 43843437 A G 30 6 "p.E208G,p.E208G" 0 exonic nonsynonymous SNV 15.27 Bmis -1.053 Bmis 0.003 Bmis 0.028 Bmis 0.112648839 Bmis Bmis samtools . . . . 0 0 . no
13393.p1 KRTAP4-3 17 39324228 C A 50 11 p.R66M 0 exonic nonsynonymous SNV 0.006 Bmis -1.062 Bmis 0 Bmis 0.128 Bmis 0.04010828 Bmis Bmis samtools 24 4 26 7 0 0 . no
13398.p1 PYHIN1 1 158912155 G A 24 23 "p.G323E,p.G314E,p.G323E,p.G314E" 0 exonic nonsynonymous SNV 23.5 Dmis -1.083 Bmis 0.011 Bmis 0.267 Bmis 0.628927601 Bmis Bmis samtools . . . . 0 0 . .
13399.p1 HCLS1 3 121351315 G A 41 10 "p.P331P,p.P368P" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 8 4 33 6 0 0 . no
13400.p1 GON4L 1 155792248 T G 92 105 "p.E239D,p.E239D,p.E239D,p.E239D,p.E239D" 0 exonic nonsynonymous SNV 19.09 Bmis -0.969 Bmis 0.003 Bmis 0.103 Bmis 0.348910101 Bmis Bmis samtools . . . . 0 0 . .
13400.p1 NCAPG2 7 158457275 G C 63 52 "p.A549A,p.A549A,p.A549A" 0 exonic synonymous SNV . synonymous . synonymous . synonymous 0.025 synonymous . synonymous synonymous samtools . . . . 0 0 . .
13403.p1 DCUN1D3 16 20873859 A G 58 50 p.M1T 0 exonic nonsynonymous SNV 24.9 Dmis -0.068 Bmis 0.141 Dmis 0.578 Dmis 0.600844472 Bmis Dmis samtools . . . . 0 0 . .
13409.p1 DPP4 2 162865169 T C 18 11 p.S630S 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13409.p1 NDFIP2 13 80125221 C G 41 8 "p.A306G,p.A326G" 0 exonic nonsynonymous SNV 25.3 Dmis -1.007 Bmis 0.01 Bmis 0.087 Bmis 0.415459977 Bmis Bmis samtools . . . . 0 0 . no
13409.p1 ZSCAN32 16 3434733 C A 49 11 "p.V31V,p.V31V,p.V108V,p.V247V,p.V108V,p.V108V,p.V187V,p.V108V,p.V108V,p.V320V,p.V108V" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . ok
13416.p1 STK19 6 31940406 C G 21 23 "p.R147G,p.R147G" 0 exonic nonsynonymous SNV 23.2 Dmis -1.123 Bmis 0.015 Bmis 0.138 Bmis 0.436671005 Bmis Bmis samtools . . . . 0 0 . .
13426.p1 PDE4C 19 18330053 T C 37 18 "p.Q287Q,p.Q213Q,p.Q319Q,p.Q319Q" 5.96E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13431.p1 ITPR3 6 33626588 C T 22 12 p.R171W 0 exonic nonsynonymous SNV 35 Dmis 1.083 Dmis 0.198 Dmis 0.835 Dmis 0.971164073 Dmis Dmis samtools . . . . 0 0 . .
13454.p1 PI16 6 36931014 C T 21 20 "p.S299F,p.S299F" 0 exonic nonsynonymous SNV 13.14 Bmis -0.91 Bmis 0.005 Bmis 0.018 Bmis 0.259761713 Bmis Bmis samtools . . . . 0 0 . .
13464.p1 RYR1 19 39019316 G A 50 57 "p.R3667H,p.R3672H" 6.50E-05 exonic nonsynonymous SNV 24.2 Dmis 0.875 Dmis 0.13 Dmis 0.504 Dmis 0.997055383 Dmis Dmis samtools . . . . 0 0 . .
13486.p1 LSMEM2 3 50324003 C G 10 10 "p.L54V,p.L54V" 0 exonic nonsynonymous SNV 26.3 Dmis -0.739 Bmis 0.021 Bmis 0.142 Bmis 0.095450381 Bmis Bmis samtools 5 7 5 3 0 0 . .
13487.p1 ADNP2 18 77894358 C A 22 26 p.P354P 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13491.p1 SLC25A5 X 118603958 G A 23 12 p.G149E 1.28E-05 exonic nonsynonymous SNV 22.8 Dmis -0.365 Bmis 0.025 Bmis 0.432 Bmis 0.911605702 Dmis Bmis samtools . . . . 0 0 . .
13491.p1 SLC25A5 X 118604922 A G 30 6 p.G266G 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
13493.p1 ISY1-RAB43;RAB43 3 128813981 C T 32 25 "p.R79Q,p.R79Q,p.R79Q,p.R79Q,p.R79Q,p.R79Q,p.G295S" 0 exonic nonsynonymous SNV 34 Dmis 0.577 Dmis 0.137 Dmis 0.092 Bmis 0.154995785 Bmis Bmis samtools 9 7 23 18 0 0 . .
13494.p1 TENM1 X 124097582 T G 215 11 "p.K7N,p.K7N,p.K7N" 6.11E-05 exonic nonsynonymous SNV 25.4 Dmis 0.447 Dmis 0.283 Dmis 0.523 Dmis 0.845172915 Dmis Dmis samtools . . . . 0 0 . no
13496.p1 C5orf42 5 37169475 T C 20 24 p.K2217K 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13499.p1 ZNF404 19 44377974 T C 25 28 p.Y128C 0 exonic nonsynonymous SNV 3.011 Bmis -1.024 Bmis 0.001 Bmis 0.053 Bmis 0.210429274 Bmis Bmis samtools . . . . 0 0 . .
13499.p1 ASPHD2 22 26830090 T C 4 15 p.L170P 0 exonic nonsynonymous SNV 25.8 Dmis -0.441 Bmis 0.053 Dmis 0.61 Dmis 0.777247483 Dmis Dmis samtools 3 13 1 2 0 0 . .
13502.p1 SLITRK5 13 88330268 G A 29 23 p.P875P 8.96E-06 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13505.p1 EXOG 3 38537991 G T 58 10 "p.E45X,p.E45X" 0 exonic stopgain 35 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . no
13510.p1 SRF 6 43144399 G A 18 19 "p.G182R,p.G386R" 5.80E-05 exonic nonsynonymous SNV 27 Dmis -0.217 Bmis 0.05 Dmis 0.333 Bmis 0.579960411 Bmis Bmis samtools . . . . 0 0 . .
13511.p1 MAP3K10 19 40710396 G A 36 40 p.G290R 0 exonic nonsynonymous SNV 34 Dmis 0.993 Dmis 0.906 Dmis 0.984 Dmis 0.988852127 Dmis Dmis samtools . . . . 0 0 . .
13512.p1 EMILIN2 18 2892174 G A 21 26 p.S683S 9.19E-06 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13513.p1 ZMYND11 10 293337 G A 36 20 . 0 splicing . 27.6 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
13514.p1 CEP135 4 56883850 T C 26 41 p.S947P 0 exonic nonsynonymous SNV 31 Dmis -0.925 Bmis 0.054 Dmis 0.33 Bmis 0.53782466 Bmis Bmis samtools . . . . 0 0 . .
13516.p1 NLRX1 11 119050981 C T 14 10 "p.R751C,p.R751C,p.R751C,p.R751C" 3.08E-05 exonic nonsynonymous SNV 29 Dmis -0.697 Bmis 0.071 Dmis 0.303 Bmis 0.600692568 Bmis Bmis samtools . . . . 0 0 . .
13517.p1 RNF145 5 158603804 T C 65 11 "p.M183V,p.M170V,p.M167V,p.M153V,p.M181V" 0 exonic nonsynonymous SNV 7.584 Bmis -0.856 Bmis 0.02 Bmis 0.246 Bmis 0.332801854 Bmis Bmis samtools . . . . 0 0 . no
13517.p1 THRSP 11 77775178 T G 17 13 p.V84G 0 exonic nonsynonymous SNV 7.02 Bmis -1.048 Bmis 0.003 Bmis 0.081 Bmis 0.215869575 Bmis Bmis samtools . . . . 0 0 . .
13517.p1 KLRF1 12 9984974 A G 196 32 "p.I50V,p.I50V,p.I50V" 0 exonic nonsynonymous SNV 0.003 Bmis -1.067 Bmis 0.001 Bmis 0.031 Bmis 0.258283824 Bmis Bmis samtools . . . . 0 0 . no
13521.p1 ALDH5A1 6 24505151 G A 59 18 "p.G222S,p.G222S" 6.54E-05 exonic nonsynonymous SNV 27.8 Dmis 0.995 Dmis 0.488 Dmis 0.892 Dmis 0.984764433 Dmis Dmis samtools . . . . 0 0 . ok
13522.p1 VCPKMT 14 50582596 G A 40 34 "p.P137P,p.P137P" 9.75E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13523.p1 C2CD3 11 73748708 T C 30 31 "p.Y1899C,p.Y1899C" 0 exonic nonsynonymous SNV 26.4 Dmis -0.935 Bmis 0.012 Bmis 0.32 Bmis 0.472263909 Bmis Bmis samtools . . . . 0 0 . .
13526.p1 CACNA2D3 3 54921984 A G 25 38 . 0 splicing . 24 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
13530.p1 FMO1 1 171252296 A G 145 20 "p.L403L,p.L336L,p.L399L,p.L399L" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
13532.p1 RNF145 5 158603804 T C 21 6 "p.M183V,p.M170V,p.M167V,p.M153V,p.M181V" 0 exonic nonsynonymous SNV 7.584 Bmis -0.856 Bmis 0.02 Bmis 0.246 Bmis 0.332801854 Bmis Bmis samtools . . . . 0 0 . no
13532.p1 HACD3 15 65856661 T C 55 10 p.V214A 0 exonic nonsynonymous SNV 8.681 Bmis -1.007 Bmis 0.017 Bmis 0.24 Bmis 0.137902524 Bmis Bmis samtools . . . . 0 0 . no
13532.p1 MAP2K3 17 21204265 G T 114 8 "p.C91F,p.C120F,p.C91F" 0 exonic nonsynonymous SNV 32 Dmis -0.049 Bmis 0.047 Bmis 0.641 Dmis 0.944750287 Dmis Dmis samtools . . . . 0 0 . no
13533.p1 SLCO1C1 12 20864352 A G 107 64 "p.N28S,p.N146S,p.N146S,p.N146S" 5.80E-05 exonic nonsynonymous SNV 23.2 Dmis -0.866 Bmis 0.012 Bmis 0.229 Bmis 0.184867976 Bmis Bmis samtools . . . . 0 0 . .
13533.p1 CGNL1 15 57730428 A C 31 6 "p.P77P,p.P77P" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
13535.p1 CSAD 12 53553919 G A 14 26 "p.A151V,p.A384V,p.A411V" 0 exonic nonsynonymous SNV 24 Dmis -1.014 Bmis 0.019 Bmis 0.146 Bmis 0.487701855 Bmis Bmis samtools . . . . 0 0 . .
13536.p1 CTNS 17 3563920 A G 18 15 p.A365A 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13537.p1 LUZP1 1 23419111 G A 18 14 "p.N548N,p.N548N" 6.53E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13537.p1 MMS19 10 99219007 A G 11 9 "p.H881H,p.H936H,p.H820H,p.H821H,p.H615H,p.H615H,p.H979H,p.H979H,p.H1018H" 0 exonic synonymous SNV . synonymous . synonymous . synonymous 0.342 synonymous . synonymous synonymous samtools . . . . 0 0 . .
13538.p1 FAM92B 16 85143904 G A 14 13 p.N61N 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13540.p1 STOX2 4 184931420 C T 10 7 p.R477W 3.67E-05 exonic nonsynonymous SNV 29.3 Dmis 0.223 Dmis 0.133 Dmis 0.491 Bmis 0.369524612 Bmis Bmis samtools . . . . 0 0 . .
13542.p1 DBH 9 136501820 T C 7 11 p.T109T 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13543.p1 MYO5A 15 52643532 G A 24 33 "p.S1256S,p.S1256S" 6.27E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13544.p1 SCN2A 2 166231378 T C 30 24 "p.C1386R,p.C1386R,p.C1386R" 0 exonic nonsynonymous SNV 24.5 Dmis 1.017 Dmis 0.835 Dmis 0.951 Dmis 0.987570038 Dmis Dmis samtools . . . . 0 0 . .
13548.p1 ABCE1 4 146044179 G A 7 6 "p.V424I,p.V424I" 0 exonic nonsynonymous SNV 29.8 Dmis 0.928 Dmis 0.221 Dmis 0.673 Dmis 0.902359603 Dmis Dmis samtools . . . . 0 0 . .
13550.p1 ITIH3 3 52836816 A G 27 19 p.E568G 0 exonic nonsynonymous SNV 25.1 Dmis -1.033 Bmis 0.024 Bmis 0.212 Bmis 0.423597195 Bmis Bmis samtools . . . . 0 0 . .
13551.p1 GOPC 6 117900140 G A 32 36 "p.Q125X,p.Q125X" 0 exonic stopgain 39 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
13552.p1 ALMS1 2 73681132 T G 28 15 p.L2492R 0 exonic nonsynonymous SNV 27.2 Dmis -1.006 Bmis 0.011 Bmis 0.186 Bmis 0.416581339 Bmis Bmis samtools . . . . 0 0 . .
13555.p1 ESYT3 3 138192456 C T 15 14 "p.S772S,p.S772S,p.S772S" 6.50E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13555.p1 NMNAT3 3 139280174 T C 13 13 "p.N57S,p.N109S,p.N146S,p.N240S,p.N146S,p.N36S" 3.25E-05 exonic nonsynonymous SNV 9.798 Bmis 0.385 Dmis 0.051 Dmis 0.405 Bmis 0.891565789 Dmis Bmis samtools . . . . 0 0 . .
13556.p1 EGFR 7 55227858 G C 20 13 "p.S175T,p.S397T,p.S397T,p.S442T,p.S389T,p.S442T,p.S442T,p.S442T" 0 exonic nonsynonymous SNV 12.77 Bmis -1.074 Bmis 0.004 Bmis 0.064 Bmis 0.596483137 Bmis Bmis samtools . . . . 0 0 . .
13556.p1 GALNTL5 7 151684364 C T 25 28 p.S219L 0 exonic nonsynonymous SNV 23.5 Dmis -0.393 Bmis 0.049 Bmis 0.269 Bmis 0.65775002 Bmis Bmis samtools . . . . 0 0 . .
13557.p1 TTN 2 179436520 C T 8 16 "p.R15715Q,p.R15840Q,p.R15907Q,p.R22212Q,p.R23139Q,p.R24780Q" 9.75E-05 exonic nonsynonymous SNV 24.9 Dmis -0.792 Bmis 0.018 Bmis 0.246 Bmis 0.193865811 Bmis Bmis samtools . . . . 0 0 . .
13557.p1 ZNF385B 2 180311403 T G 41 8 "p.P179P,p.P153P,p.P153P,p.P255P" 3.59E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
13557.p1 CISH 3 50645313 T A 36 32 "p.T168S,p.T185S" 0 exonic nonsynonymous SNV 0.274 Bmis -1.034 Bmis 0.006 Bmis 0.031 Bmis 0.271763556 Bmis Bmis samtools . . . . 0 0 . .
13557.p1 ZBED2 3 111312622 G A 14 10 p.L143L 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13557.p1 HEPHL1 11 93796777 A C 45 8 p.A173A 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
13557.p1 PLAC4 21 42551425 C G 96 10 p.R44P 0 exonic nonsynonymous SNV -1 Bmis . Bmis . Bmis . Bmis . Bmis Bmis samtools 39 6 57 4 0 0 . no
13558.p1 SIK3 11 116732054 G A 55 42 "p.N739N,p.N739N,p.N580N" 0 exonic synonymous SNV . synonymous . synonymous . synonymous 0.173 synonymous . synonymous synonymous samtools . . . . 0 0 . .
13558.p1 CCDC116 22 21989023 C G 9 11 "p.S224W,p.S224W" 0 exonic nonsynonymous SNV 23.8 Dmis -1.119 Bmis 0.009 Bmis 0.1 Bmis 0.321393169 Bmis Bmis samtools . . . . 0 0 . .
13559.p1 TEX37 2 88825967 C G 98 10 p.D24E 0 exonic nonsynonymous SNV 24.9 Dmis -0.932 Bmis 0.005 Bmis 0.115 Bmis 0.296329037 Bmis Bmis samtools . . . . 0 0 . no
13560.p1 TAF6 7 99711308 T C 33 26 "p.K147E,p.K110E,p.K110E" 3.25E-05 exonic nonsynonymous SNV 23.3 Dmis -1.067 Bmis 0.014 Bmis 0.146 Bmis 0.586265331 Bmis Bmis samtools . . . . 0 0 . .
13561.p1 ACTR6 12 100601535 A G 26 23 p.Y117C 0 exonic nonsynonymous SNV 26.9 Dmis 1.102 Dmis 0.358 Dmis 0.959 Dmis 0.991920487 Dmis Dmis samtools . . . . 0 0 . .
13562.p1 EIF5A2 3 170612204 G A 66 53 p.C93C 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13565.p1 KRT34 17 39538265 C T 17 30 p.E120E 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 12 18 5 12 0 0 . .
13571.p1 SEZ6L2 16 29891363 G A 23 17 "p.F351F,p.F421F,p.F395F,p.F465F,p.F395F,p.F465F" 3.25E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13571.p1 ANGPTL4 19 8434160 T G 44 43 p.F202C 0 exonic nonsynonymous SNV 26.3 Dmis -0.863 Bmis 0.071 Dmis 0.409 Bmis 0.646079474 Bmis Bmis samtools . . . . 0 0 . .
13573.p1 FN1 2 216251636 T G 15 8 "p.N1372T,p.N1372T,p.N1372T,p.N1372T,p.N1372T,p.N1372T,p.N1463T,p.N1463T,p.N1463T" 0 exonic nonsynonymous SNV 21.5 Dmis -0.791 Bmis 0.025 Bmis 0.16 Bmis 0.795254049 Dmis Bmis samtools . . . . 0 0 . .
13573.p1 TANC2 17 61498409 A G 20 20 p.H1689R 0 exonic nonsynonymous SNV 8.263 Bmis -0.778 Bmis 0.015 Bmis 0.339 Bmis 0.633928916 Bmis Bmis samtools . . . . 0 0 . .
13575.p1 VPS18 15 41192955 C T 24 9 p.R647C 4.48E-05 exonic nonsynonymous SNV 31 Dmis -0.686 Bmis 0.064 Dmis 0.381 Bmis 0.302481332 Bmis Bmis samtools . . . . 0 0 . ok
13576.p1 SETD5 3 9489592 G A 29 27 "p.G669R,p.G571R,p.G571R" 0 exonic nonsynonymous SNV 24.1 Dmis -0.593 Bmis 0.058 Dmis 0.383 Bmis 0.563753799 Bmis Bmis samtools . . . . 0 0 . .
13577.p1 OR4A16 11 55111659 G A 15 10 p.R328Q 1.04E-05 exonic nonsynonymous SNV 0.044 Bmis -1.031 Bmis . Bmis 0.029 Bmis 0.029773718 Bmis Bmis samtools . . . . 0 0 . .
13580.p1 BCHE 3 165547525 A C 24 19 p.F433V 0 exonic nonsynonymous SNV 24.1 Dmis -0.531 Bmis 0.066 Dmis 0.57 Dmis 0.886122297 Dmis Dmis samtools . . . . 0 0 . .
13580.p1 KRTAP5-5 11 1651199 A G 13 9 p.G43G 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 2 7 11 2 0 0 . .
13581.p1 TBC1D31 8 124113166 T A 12 11 "p.H212Q,p.H317Q,p.H317Q" 0 exonic nonsynonymous SNV 16.19 Bmis -0.972 Bmis 0.013 Bmis 0.079 Bmis 0.624216932 Bmis Bmis samtools . . . . 0 0 . .
13587.p1 NCOR1 17 16024513 G A 17 22 "p.P460S,p.P569S,p.P569S" 5.96E-05 exonic nonsynonymous SNV 23.3 Dmis -1.074 Bmis 0.013 Bmis 0.166 Bmis 0.548376975 Bmis Bmis samtools . . . . 0 0 . .
13593.p1 RGS22 8 100990260 C A 16 16 "p.C954F,p.C1123F,p.C1135F" 0 exonic nonsynonymous SNV 28.1 Dmis -0.909 Bmis 0.054 Dmis 0.3 Bmis 0.507807437 Bmis Bmis samtools . . . . 0 0 . .
13596.p1 HADHA 2 26432717 C A 43 30 p.L339F 0 exonic nonsynonymous SNV 28.8 Dmis 0.282 Dmis 0.228 Dmis 0.732 Dmis 0.709842139 Bmis Dmis samtools . . . . 0 0 . .
13598.p1 MYO7B 2 128384626 C T 8 18 p.P1405L 6.00E-05 exonic nonsynonymous SNV 34 Dmis 1.081 Dmis 0.251 Dmis 0.85 Dmis 0.952461713 Dmis Dmis samtools . . . . 0 0 . .
13598.p1 FRMD3 9 85926860 A G 44 31 "p.F45L,p.F239L,p.F195L,p.F239L" 0 exonic nonsynonymous SNV 23.1 Dmis -0.484 Bmis 0.041 Bmis 0.486 Bmis 0.752126567 Dmis Bmis samtools . . . . 0 0 . .
13602.p1 CCDC27 1 3679948 C G 13 20 p.L411V 0 exonic nonsynonymous SNV 23.5 Dmis -1.054 Bmis 0.057 Dmis 0.105 Bmis 0.137902524 Bmis Bmis samtools . . . . 0 0 . .
13604.p1 PEG10 7 94293229 G A 19 11 "p.V121M,p.V197M,p.V155M" 0 exonic nonsynonymous SNV 26.1 Dmis -1.057 Bmis 0.008 Bmis 0.074 Bmis 0.413450081 Bmis Bmis samtools . . . . 0 0 . .
13606.p1 TMEM178A 2 39944313 A G 154 8 "p.G90G,p.G272G" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
13606.p1 LRFN2 6 40400590 A G 18 6 p.I88T 8.99E-06 exonic nonsynonymous SNV 25.5 Dmis 0.28 Dmis 0.218 Dmis 0.781 Dmis 0.933998544 Dmis Dmis samtools . . . . 0 0 . no
13606.p1 H2AFV 7 44875212 G A 87 74 "p.R55C,p.R43C,p.R81C,p.R81C" 0 exonic nonsynonymous SNV 28.7 Dmis 0.149 Dmis 0.355 Dmis 0.705 Dmis 0.877910353 Dmis Dmis samtools . . . . 0 0 . .
13611.p1 GIGYF2 2 233712061 C G 23 18 "p.P1149R,p.P1155R,p.P1176R,p.P1155R" 0 exonic nonsynonymous SNV 24.6 Dmis 0.291 Dmis 0.134 Dmis 0.858 Dmis 0.826247062 Dmis Dmis samtools . . . . 0 0 . .
13612.p1 ASB14 3 57314402 C G 19 14 p.G272A 0 exonic nonsynonymous SNV 25.3 Dmis 0.189 Dmis 0.091 Dmis 0.513 Dmis 0.737331765 Bmis Dmis samtools . . . . 0 0 . .
13613.p1 CAD 2 27455388 T G 34 45 "p.V843V,p.V906V" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13617.p1 MPEG1 11 58979891 C G 48 8 p.V150L 0 exonic nonsynonymous SNV 24.7 Dmis 0.451 Dmis 0.066 Dmis 0.681 Dmis 0.649211095 Bmis Dmis samtools 31 6 17 2 0 0 . ok
13621.p1 TRIO 5 14394220 A T 49 69 p.K1431M 0 exonic nonsynonymous SNV 32 Dmis 0.178 Dmis 0.146 Dmis 0.63 Dmis 0.674577093 Bmis Dmis samtools . . . . 0 0 . .
13621.p1 ACIN1 14 23548787 C T 70 6 "p.R604H,p.R644H,p.R644H" 3.25E-05 exonic nonsynonymous SNV 27.2 Dmis -0.878 Bmis 0.023 Bmis 0.16 Bmis 0.467483911 Bmis Bmis samtools 63 5 7 1 0 0 . no
13621.p1 AMOT X 112021879 G A 65 13 "p.F1057F,p.F648F" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . ok
13623.p1 VPS13A 9 79932586 A T 46 54 "p.D1604V,p.D1643V,p.D1643V,p.D1643V" 0 exonic nonsynonymous SNV 24.5 Dmis -0.842 Bmis 0.043 Bmis 0.219 Bmis 0.771006537 Dmis Bmis samtools . . . . 0 0 . .
13624.p1 DEK 6 18264196 G A 10 7 "p.A8V,p.A8V" 0 exonic nonsynonymous SNV 19.92 Bmis -1.008 Bmis 0.022 Bmis 0.052 Bmis 0.71708739 Bmis Bmis samtools . . . . 0 0 . .
13627.p1 POGZ 1 151378489 G A 17 22 "p.R913X,p.R955X,p.R946X,p.R999X,p.R1008X" 0 exonic stopgain 39 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
13628.p1 GRIK5 19 42546852 C T 7 10 "p.R442H,p.R442H" 0 exonic nonsynonymous SNV 33 Dmis 0.015 Dmis 0.048 Bmis 0.489 Bmis 0.912752998 Dmis Bmis samtools . . . . 0 0 . .
13629.p1 NCKIPSD 3 48717607 T C 17 6 "p.E383G,p.E376G" 0 exonic nonsynonymous SNV 23.5 Dmis -0.756 Bmis 0.052 Dmis 0.25 Bmis 0.465806656 Bmis Bmis samtools . . . . 0 0 . no
13629.p1 PTPRK 6 128326372 C T 68 17 "p.R784H,p.R784H,p.R783H,p.R784H,p.R794H,p.R679H" 4.52E-05 exonic nonsynonymous SNV 28.1 Dmis -1.182 Bmis 0.014 Bmis 0.21 Bmis 0.378526891 Bmis Bmis samtools . . . . 0 0 . ok
13629.p1 GPS1 17 80014816 G A 23 30 "p.R452Q,p.R451Q,p.R455Q,p.R456Q,p.R492Q,p.R524Q,p.R520Q,p.R519Q,p.R436Q" 0 exonic nonsynonymous SNV 34 Dmis 0.293 Dmis 0.237 Dmis 0.85 Dmis 0.780846278 Dmis Dmis samtools . . . . 0 0 . .
13630.p1 MEMO1 2 32168370 C T 25 31 . 0 splicing . 25.1 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
13630.p1 CA2 8 86392904 G A 32 19 "p.L122L,p.L223L" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13631.p1 KDM5B 1 202715066 A G 27 23 "p.L703S,p.L748S,p.L784S" 0 exonic nonsynonymous SNV 28.2 Dmis 0.745 Dmis 0.314 Dmis 0.802 Dmis 0.620070165 Bmis Dmis samtools . . . . 0 0 . .
13634.p1 ZBTB17 1 16268591 G A 3 10 "p.T680M,p.T686M,p.T699M,p.T769M,p.T686M,p.T762M" 2.98E-05 exonic nonsynonymous SNV 23.4 Dmis -1.116 Bmis 0.01 Bmis 0.13 Bmis 0.356364621 Bmis Bmis samtools . . . . 0 0 . .
13634.p1 ADGRB1 8 143605599 C G 10 8 p.Y1082X 0 exonic stopgain 38 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
13634.p1 SLC5A1 22 32480957 A G 30 28 "p.Y192C,p.Y319C" 0 exonic nonsynonymous SNV 24.3 Dmis 0.668 Dmis 0.263 Dmis 0.819 Dmis 0.96214155 Dmis Dmis samtools . . . . 0 0 . .
13635.p1 GBP7 1 89615184 T C 30 28 p.M315V 0 exonic nonsynonymous SNV 0.001 Bmis -1.053 Bmis 0.005 Bmis 0.125 Bmis 0.013882241 Bmis Bmis samtools . . . . 0 0 . .
13635.p1 KLRC1 12 10601981 T G 58 8 "p.H97P,p.H115P,p.H97P,p.H115P,p.H115P" 3.32E-05 exonic nonsynonymous SNV 0.002 Bmis -0.931 Bmis 0.001 Bmis 0.028 Bmis 0.200317383 Bmis Bmis samtools . . . . 0 0 . no
13637.p1 ZER1 9 131515745 G A 26 13 p.N148N 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13641.p1 PUS7 7 105108895 G A 45 35 "p.R478C,p.R472C,p.R472C" 5.97E-05 exonic nonsynonymous SNV 35 Dmis 0.125 Dmis 0.087 Dmis 0.694 Dmis 0.884028662 Dmis Dmis samtools . . . . 0 0 . .
13641.p1 TAS2R30 12 11286807 T C 57 6 p.I13V 4.54E-05 exonic nonsynonymous SNV 0.001 Bmis -0.984 Bmis 0.002 Bmis 0.006 Bmis 0.04010828 Bmis Bmis samtools . . . . 0 0 . no
13641.p1 URB1 21 33757953 T C 56 8 p.R61R 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
13644.p1 TXNDC5 6 7883451 T C 35 27 "p.S301G,p.S409G" 8.96E-06 exonic nonsynonymous SNV 10.81 Bmis -0.915 Bmis 0.005 Bmis 0.028 Bmis 0.048227956 Bmis Bmis samtools . . . . 0 0 . .
13645.p1 UNC13B 9 35381599 G C 70 11 "p.R764P,p.R764P" 0 exonic nonsynonymous SNV 23.2 Dmis -0.774 Bmis 0.042 Bmis 0.358 Bmis 0.547298545 Bmis Bmis samtools . . . . 0 0 . ok
13645.p1 PBLD 10 70043988 C T 64 55 p.R271R 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13646.p1 GTF3C1 16 27540006 A G 35 34 "p.Y296H,p.Y296H" 0 exonic nonsynonymous SNV 27.3 Dmis -1.029 Bmis 0.021 Bmis 0.334 Bmis 0.380587456 Bmis Bmis samtools . . . . 0 0 . .
13646.p1 SCN4A 17 62049125 G A 12 16 p.R190W 1.83E-05 exonic nonsynonymous SNV 34 Dmis 1.068 Dmis 0.398 Dmis 0.94 Dmis 0.947186078 Dmis Dmis samtools . . . . 0 0 . .
13647.p1 LRRC70 5 61875913 A C 21 13 p.L216F 0 exonic nonsynonymous SNV 11.38 Bmis -0.408 Bmis 0.052 Dmis 0.596 Dmis 0.34333427 Bmis Dmis samtools . . . . 0 0 . .
13647.p1 ZNF347 19 53644455 C G 74 6 "p.M543I,p.M543I,p.M542I" 0 exonic nonsynonymous SNV 9.167 Bmis -1.009 Bmis 0.002 Bmis 0.019 Bmis 0.061188463 Bmis Bmis samtools . . . . 0 0 . no
13650.p1 HGC6.3 6 168376993 T C 53 9 p.M114V 0 exonic nonsynonymous SNV -1 Bmis . Bmis . Bmis . Bmis . Bmis Bmis samtools 5 1 48 8 0 0 . no
13654.p1 SBF2 11 10014632 C T 29 31 p.V358I 5.82E-05 exonic nonsynonymous SNV 20.9 Dmis -1.09 Bmis 0.004 Bmis 0.048 Bmis 0.329540905 Bmis Bmis samtools . . . . 0 0 . .
13658.p1 NOTCH1 9 139412361 C T 13 15 p.K428K 5.81E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13662.p1 ADAMTS10 19 8662200 A C 125 7 p.V271G 0 exonic nonsynonymous SNV 27.5 Dmis 0.915 Dmis 0.848 Dmis 0.965 Dmis 0.985298842 Dmis Dmis samtools 65 1 60 6 0 0 . no
13665.p1 STAB1 3 52540749 G C 9 8 p.R624S 0 exonic nonsynonymous SNV 0.008 Bmis -0.699 Bmis 0.043 Bmis 0.244 Bmis 0.364730456 Bmis Bmis samtools 8 6 1 2 0 0 . .
13668.p1 SLC12A3 16 56919238 G T 38 10 "p.V629V,p.V628V,p.V629V" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
13668.p1 ENGASE 17 77078118 G T 79 14 p.V337V 2.98E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
13668.p1 MADCAM1 19 501738 C A 54 6 p.P246Q 0 exonic nonsynonymous SNV 1.273 Bmis -0.947 Bmis . Bmis 0.018 Bmis . Bmis Bmis samtools 16 4 38 2 0 0 . no
13673.p1 LIX1 5 96430657 C T 30 15 p.R215Q 8.94E-05 exonic nonsynonymous SNV 13.11 Bmis -0.975 Bmis 0.005 Bmis 0.069 Bmis 0.04010828 Bmis Bmis samtools . . . . 0 0 . .
13677.p1 KAZN 1 15382658 G A 30 30 "p.T172T,p.T260T,p.T172T,p.T266T,p.T266T" 5.96E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13677.p1 B3GNT9 16 67183870 G T 9 12 p.G173G 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13678.p1 ASH1L 1 155340680 C A 123 107 p.E2143X 0 exonic stopgain 44 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
13678.p1 SKIL 3 170078902 C G 72 76 "p.A261A,p.A261A,p.A261A,p.A241A" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13678.p1 SKIL 3 170079096 A C 38 34 "p.H326P,p.H326P,p.H326P,p.H306P" 0 exonic nonsynonymous SNV 10.68 Bmis -0.243 Bmis 0.042 Bmis 0.511 Dmis 0.881795912 Dmis Dmis samtools . . . . 0 0 . .
13679.p1 TDG 12 104376714 T A 80 6 . 0 splicing . 23.4 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . no
13680.p1 TOGARAM2 2 29259545 G T 52 8 "p.A662S,p.A798S,p.A853S" 0 exonic nonsynonymous SNV 19.28 Bmis -1.066 Bmis 0.005 Bmis 0.051 Bmis 0.266843984 Bmis Bmis samtools . . . . 0 0 . no
13681.p1 ETNK2 1 204103821 C A 12 11 p.G339V 0 exonic nonsynonymous SNV 3.914 Bmis -1.088 Bmis 0.025 Bmis 0.027 Bmis 0.167679373 Bmis Bmis samtools . . . . 0 0 . .
13682.p1 DSPP 4 88536917 G A 22 7 p.D1035N 0 exonic nonsynonymous SNV 10.63 Bmis -0.739 Bmis 0.038 Bmis 0.123 Bmis 0.423954403 Bmis Bmis samtools 14 5 8 2 0 0 . no
13686.p1 ZYX 7 143079776 C G 42 28 "p.R167G,p.R167G" 0 exonic nonsynonymous SNV 27.6 Dmis -0.431 Bmis 0.11 Dmis 0.253 Bmis 0.751111362 Dmis Bmis samtools . . . . 0 0 . .
13686.p1 EDRF1 10 127409846 G A 17 13 "p.R61Q,p.R61Q" 5.80E-05 exonic nonsynonymous SNV 23.3 Dmis -0.986 Bmis 0.001 Bmis 0.163 Bmis 0.398133443 Bmis Bmis samtools . . . . 0 0 . .
13687.p1 SLC22A6 11 62748819 G A 8 8 "p.S278S,p.S278S,p.S278S,p.S278S" 4.24E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13687.p1 TMEM87A 15 42553156 G A 39 21 "p.T107T,p.T168T,p.T168T" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13688.p1 RANBP6 9 6013712 T G 29 6 "p.P632P,p.P280P" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
13688.p1 MRPL50 9 104153072 C A 106 60 p.V51V 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13690.p1 PAM 5 102340877 T C 23 18 "p.L477L,p.L584L,p.L584L,p.L584L,p.L584L,p.L602L" 0 exonic synonymous SNV . synonymous . synonymous . synonymous 0.111 synonymous . synonymous synonymous samtools 13 14 10 4 0 0 . .
13690.p1 TCTN3 10 97446866 C T 69 13 "p.A184T,p.A263T" 0 exonic nonsynonymous SNV 10.38 Bmis -1.002 Bmis 0.015 Bmis 0.169 Bmis 0.851677591 Dmis Bmis samtools . . . . 0 0 . ok
13690.p1 NEFH 22 29885618 T A 28 7 p.P663P 9.34E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 19 4 9 3 0 0 . no
13692.p1 MRRF 9 125054092 G A 36 26 "p.G123E,p.G84E,p.G131E,p.G175E,p.G175E,p.G196E,p.G175E" 0 exonic nonsynonymous SNV 25.3 Dmis -0.132 Bmis 0.108 Dmis 0.527 Dmis 0.903894814 Dmis Dmis samtools . . . . 0 0 . .
13697.p1 JAKMIP1 4 6064158 G A 28 29 "p.R316X,p.R481X,p.R481X,p.R481X" 0 exonic stopgain 35 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
13697.p1 GABRB2 5 160973600 A G 124 158 "p.L17S,p.L17S" 0 exonic nonsynonymous SNV 23.2 Dmis -0.525 Bmis 0.039 Bmis 0.426 Bmis 0.97918149 Dmis Bmis samtools . . . . 0 0 . .
13697.p1 SLX4 16 3644492 A G 110 97 p.F708L 0 exonic nonsynonymous SNV 28.2 Dmis -0.36 Bmis 0.19 Dmis 0.532 Dmis 0.82447113 Dmis Dmis samtools . . . . 0 0 . .
13700.p1 HIF3A 19 46808554 G A 33 45 "p.L88L,p.L90L" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13703.p1 NUP133 1 229602434 T C 32 30 p.M716V 3.25E-05 exonic nonsynonymous SNV 0.001 Bmis -1.091 Bmis 0.005 Bmis 0.026 Bmis 0.137902524 Bmis Bmis samtools . . . . 0 0 . .
13703.p1 NFIL3 9 94172880 A C 20 13 "p.L46R,p.L46R,p.L46R" 0 exonic nonsynonymous SNV 27.1 Dmis -0.914 Bmis 0.01 Bmis 0.134 Bmis 0.357212566 Bmis Bmis samtools . . . . 0 0 . .
13704.p1 CCNJL 5 159686641 A G 53 34 "p.W140R,p.W188R" 0 exonic nonsynonymous SNV 29.2 Dmis -0.964 Bmis 0.069 Dmis 0.754 Dmis 0.562428738 Bmis Dmis samtools . . . . 0 0 . .
13707.p1 TRPM1 15 31330304 G C 83 84 "p.F811L,p.F772L,p.F794L" 0 exonic nonsynonymous SNV 12.74 Bmis -1.047 Bmis 0.019 Bmis 0.101 Bmis 0.189958194 Bmis Bmis samtools . . . . 0 0 . .
13711.p1 KCNH8 3 19491606 C T 33 35 p.H462Y 0 exonic nonsynonymous SNV 25.5 Dmis 0.959 Dmis 0.059 Dmis 0.631 Dmis 0.942359577 Dmis Dmis samtools . . . . 0 0 . .
13717.p1 HCLS1 3 121351315 G A 53 6 "p.P331P,p.P368P" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 15 4 38 2 0 0 . no
13717.p1 NTN1 17 9083262 C A 23 15 p.A449D 0 exonic nonsynonymous SNV 34 Dmis -0.695 Bmis 0.057 Dmis 0.547 Dmis 0.689150957 Bmis Dmis samtools . . . . 0 0 . .
13722.p1 KLRC1 12 10601981 T G 42 6 "p.H97P,p.H115P,p.H97P,p.H115P,p.H115P" 3.32E-05 exonic nonsynonymous SNV 0.002 Bmis -0.931 Bmis 0.001 Bmis 0.028 Bmis 0.200317383 Bmis Bmis samtools . . . . 0 0 . no
13722.p1 ZNF229 19 44933156 G A 10 15 "p.Y594Y,p.Y600Y" 9.75E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13725.p1 CD163L1 12 7551148 C T 40 12 "p.A491T,p.A481T" 0 exonic nonsynonymous SNV 16.45 Bmis -1.036 Bmis 0.005 Bmis 0.091 Bmis 0.490352026 Bmis Bmis samtools . . . . 0 0 . ok
13726.p1 TREH 11 118532369 C A 96 79 . 0 exonic unknown 24.2 other: unknown -1.012 other: unknown 0.031 other: unknown 0.094 other: unknown 0.299770981 other: unknown other: unknown samtools . . . . 0 0 . .
13731.p1 ATOH1 4 94750303 C T 9 10 p.R76C 0 exonic nonsynonymous SNV 34 Dmis 0.916 Dmis 0.252 Dmis 0.717 Dmis 0.80287285 Dmis Dmis samtools 4 1 5 9 0 0 . .
13731.p1 RBMX X 135961281 T C 22 6 "p.V37V,p.V37V" 8.38E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
13733.p1 CACNA2D2 3 50425026 G A 64 48 "p.Y161Y,p.Y161Y,p.Y92Y,p.Y161Y" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13733.p1 CHD7 8 61735090 G A 35 35 p.G996S 0 exonic nonsynonymous SNV 28.5 Dmis 0.917 Dmis 0.878 Dmis 0.954 Dmis 0.997187405 Dmis Dmis samtools . . . . 0 0 . .
13735.p1 ZSWIM8 10 75560469 C G 62 70 "p.P1695A,p.P1687A,p.P1700A" 8.97E-05 exonic nonsynonymous SNV 23.3 Dmis -0.269 Bmis 0.048 Bmis 0.521 Dmis 0.407489864 Bmis Dmis samtools . . . . 0 0 . .
13741.p1 FAM234B 12 13211481 T A 207 88 p.V177E 0 exonic nonsynonymous SNV 0.031 Bmis -1.003 Bmis 0.011 Bmis 0.021 Bmis 0.013882241 Bmis Bmis samtools . . . . 0 0 . no
13742.p1 CELA1 12 51723570 A G 14 17 p.S219S 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13742.p1 DUS2 16 68088498 G T 222 12 "p.A96S,p.A96S" 0 exonic nonsynonymous SNV 28.7 Dmis -0.508 Bmis 0.029 Bmis 0.332 Bmis 0.664353351 Bmis Bmis samtools . . . . 0 0 . no
13742.p1 MYH10 17 8457299 T C 16 16 "p.Y255C,p.Y265C,p.Y264C" 0 exonic nonsynonymous SNV 24.2 Dmis 0.587 Dmis 0.115 Dmis 0.792 Dmis 0.811449838 Dmis Dmis samtools . . . . 0 0 . .
13742.p1 PCNT 21 47754471 G A 82 6 "p.R25H,p.R143H" 0 exonic nonsynonymous SNV 9.735 Bmis -0.877 Bmis 0.003 Bmis 0.078 Bmis 0.307966526 Bmis Bmis samtools 31 2 51 4 0 0 . no
13749.p1 USP1 1 62907898 A G 201 8 "p.G108G,p.G108G,p.G108G" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
13749.p1 KRTAP5-2 11 1619202 G A 29 6 p.G93G 3.73E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 8 3 21 3 0 0 . no
13755.p1 TBC1D10C 11 67174308 G A 8 11 p.R220Q 6.69E-05 exonic nonsynonymous SNV 10.93 Bmis -0.946 Bmis 0.003 Bmis 0.098 Bmis 0.095450381 Bmis Bmis samtools . . . . 0 0 . .
13757.p1 CCDC183 9 139700614 C G 54 8 p.Q345E 1.77E-05 exonic nonsynonymous SNV 10.33 Bmis -0.944 Bmis 0.007 Bmis 0.037 Bmis 0.12839243 Bmis Bmis samtools . . . . 0 0 . no
13758.p1 FAM102B 1 109177766 A G 77 11 p.K359K 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . ok
13758.p1 SETX 9 135202535 C T 44 45 "p.E1484K,p.E1484K,p.E1484K" 8.96E-06 exonic nonsynonymous SNV 12.68 Bmis -0.588 Bmis 0.079 Dmis 0.178 Bmis 0.586875618 Bmis Bmis samtools . . . . 0 0 . .
13758.p1 ZNF226 19 44679683 C T 11 6 "p.Q90X,p.Q90X,p.Q90X,p.Q90X,p.Q90X,p.Q90X" 0 exonic stopgain 25.5 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
13759.p1 PLEC 8 144996005 C T 16 8 "p.G2648S,p.G2640S,p.G2799S,p.G2630S,p.G2662S,p.G2666S,p.G2662S,p.G2689S" 6.55E-05 exonic nonsynonymous SNV 24.5 Dmis -0.403 Bmis 0.118 Dmis 0.319 Bmis 0.751141067 Dmis Bmis samtools . . . . 0 0 . .
13760.p1 GTF3C2 2 27549589 G A 58 56 "p.R897W,p.R908W,p.R897W" 9.75E-05 exonic nonsynonymous SNV 25.2 Dmis -0.927 Bmis 0.025 Bmis 0.249 Bmis 0.255117706 Bmis Bmis samtools . . . . 0 0 . .
13760.p1 NFATC4 14 24843068 A C 14 24 "p.E576A,p.E506A,p.E564A,p.E576A,p.E639A,p.E639A,p.E639A" 0 exonic nonsynonymous SNV 25.3 Dmis -0.556 Bmis 0.068 Dmis 0.68 Dmis 0.548741273 Bmis Dmis samtools . . . . 0 0 . .
13761.p1 PCDHB9 5 140567643 G C 12 9 . 8.96E-06 exonic unknown 6.273 other: unknown . other: unknown . other: unknown . other: unknown 0.564020812 other: unknown other: unknown samtools 5 3 7 6 0 0 . .
13761.p1 NBEA 13 36129146 C T 39 26 "p.R70X,p.R2277X" 0 exonic stopgain 49 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
13762.p1 IQGAP1 15 91010810 C T 25 6 p.R722W 9.29E-05 exonic nonsynonymous SNV 25.3 Dmis 0.325 Dmis 0.084 Dmis 0.532 Dmis 0.800844909 Dmis Dmis samtools . . . . 0 0 . ok
13763.p1 FABP4 8 82392668 T C 20 20 p.K80R 0 exonic nonsynonymous SNV 23.8 Dmis -1.086 Bmis 0.006 Bmis 0.165 Bmis 0.531096827 Bmis Bmis samtools . . . . 0 0 . .
13766.p1 DIDO1 20 61512743 G A 23 23 "p.S1522F,p.S1522F" 0 exonic nonsynonymous SNV 27.6 Dmis -0.898 Bmis 0.061 Dmis 0.334 Bmis 0.449605256 Bmis Bmis samtools . . . . 0 0 . .
13769.p1 ZNF219 14 21560051 C A 44 53 "p.A469S,p.A469S,p.A469S" 0 exonic nonsynonymous SNV 9 Bmis -0.934 Bmis 0.007 Bmis 0.039 Bmis 0.043077524 Bmis Bmis samtools . . . . 0 0 . .
13771.p1 EPB41L1 20 34778600 G A 8 6 "p.R332Q,p.R394Q,p.R332Q,p.R394Q,p.R363Q" 0 exonic nonsynonymous SNV 34 Dmis 1.099 Dmis 0.745 Dmis 0.952 Dmis 0.974676357 Dmis Dmis samtools . . . . 0 0 . .
13772.p1 NRP2 2 206617656 C T 14 7 "p.T667T,p.T667T,p.T667T,p.T667T,p.T667T" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13772.p1 ECH1 19 39322374 G A 21 12 p.D13D 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 10 7 11 5 0 0 . .
13773.p1 RRAGC 1 39325126 G C 22 25 "p.L65V,p.L65V" 0 exonic nonsynonymous SNV 16 Bmis 0.006 Dmis 0.319 Dmis 0.65 Dmis 0.973116165 Dmis Dmis samtools . . . . 0 0 . .
13773.p1 TRIM46 1 155156580 G A 57 62 "p.G606R,p.G709R,p.G719R,p.G732R,p.G690R" 0 exonic nonsynonymous SNV 29.6 Dmis -0.63 Bmis 0.129 Dmis 0.528 Dmis 0.631006503 Bmis Dmis samtools . . . . 0 0 . .
13773.p1 ENPP7 17 77710999 G T 59 11 p.G396C 0 exonic nonsynonymous SNV 25.3 Dmis 0.895 Dmis 0.38 Dmis 0.784 Dmis 0.931281695 Dmis Dmis samtools . . . . 0 0 . no
13785.p1 ZSCAN4 19 58187889 A G 21 16 p.S126G 0 exonic nonsynonymous SNV 0.002 Bmis -0.908 Bmis 0.002 Bmis 0.037 Bmis 0.029773718 Bmis Bmis samtools . . . . 0 0 . .
13789.p1 POU3F1 1 38511611 G A 16 9 p.L269L 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 7 2 9 7 0 0 . .
13793.p1 RPA1 17 1775735 G C 17 6 p.G123G 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
13793.p1 SBF1 22 50899030 T C 18 22 p.T1027A 8.95E-06 exonic nonsynonymous SNV 0.154 Bmis -0.987 Bmis 0.004 Bmis 0.022 Bmis 0.453878813 Bmis Bmis samtools . . . . 0 0 . .
13798.p1 DBR1 3 137885960 T C 62 52 p.H226R 0 exonic nonsynonymous SNV 25.6 Dmis 0.99 Dmis 0.588 Dmis 0.978 Dmis 0.973465646 Dmis Dmis samtools . . . . 0 0 . .
13798.p1 GJA10 6 90605047 A G 28 44 p.N287S 0 exonic nonsynonymous SNV 10.69 Bmis -0.264 Bmis 0.026 Bmis 0.271 Bmis 0.886643388 Dmis Bmis samtools . . . . 0 0 . .
13798.p1 JPH1 8 75157262 A G 106 8 "p.S469S,p.S469S" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
13802.p1 ALDH1L1 3 125822675 T G 46 40 "p.N789H,p.N900H,p.N890H" 0 exonic nonsynonymous SNV 21.9 Dmis -0.895 Bmis 0.057 Dmis 0.224 Bmis 0.508281581 Bmis Bmis samtools . . . . 0 0 . .
13804.p1 EIF2AK3 2 88874874 A C 53 61 "p.I558M,p.I709M" 0 exonic nonsynonymous SNV 11.31 Bmis -0.811 Bmis 0.019 Bmis 0.13 Bmis 0.835129101 Dmis Bmis samtools . . . . 0 0 . .
13804.p1 A2ML1 12 9021799 G A 20 22 "p.E916E,p.E1407E" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13810.p1 SCUBE1 22 43607047 C T 76 65 p.R755H 9.02E-06 exonic nonsynonymous SNV 34 Dmis -0.78 Bmis 0.027 Bmis 0.433 Bmis 0.586209317 Bmis Bmis samtools . . . . 0 0 . .
13811.p1 TDP1 14 90451545 A T 110 85 "p.R374S,p.R374S,p.R374S" 0 exonic nonsynonymous SNV 24.6 Dmis -0.607 Bmis 0.05 Dmis 0.347 Bmis 0.451692371 Bmis Bmis samtools . . . . 0 0 . .
13812.p1 PDIA6 2 10931993 T C 91 94 "p.D171G,p.D219G,p.D176G,p.D168G,p.D223G" 3.25E-05 exonic nonsynonymous SNV 19.73 Bmis -0.544 Bmis 0.05 Dmis 0.523 Dmis 0.540970351 Bmis Dmis samtools . . . . 0 0 . .
13812.p1 NDST4 4 115749007 A T 45 7 p.S862T 0 exonic nonsynonymous SNV 11.1 Bmis -1.037 Bmis 0.025 Bmis 0.12 Bmis 0.705605634 Bmis Bmis samtools . . . . 0 0 . no
13812.p1 POLR1D 13 28239954 A G 219 15 "p.Q50R,p.Q78R" 0 exonic nonsynonymous SNV 0.386 Bmis -1.052 Bmis 0.004 Bmis 0.02 Bmis 0.137902524 Bmis Bmis samtools . . . . 0 0 . no
13812.p1 ENGASE 17 77078118 G T 139 12 p.V337V 2.98E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
13813.p1 LRRC41 1 46751327 C T 9 16 p.R401H 6.54E-05 exonic nonsynonymous SNV 24.4 Dmis -0.864 Bmis 0.013 Bmis 0.189 Bmis 0.433430667 Bmis Bmis samtools . . . . 0 0 . .
13813.p1 ASB11 X 15332589 T C 32 31 p.E7G 0 exonic nonsynonymous SNV 14.67 Bmis -1.013 Bmis 0.025 Bmis 0.089 Bmis 0.741809648 Bmis Bmis samtools . . . . 0 0 . .
13817.p1 SOGA3 6 127796553 C G 19 12 p.R873P 0 exonic nonsynonymous SNV 26.2 Dmis -1.148 Bmis 0.042 Bmis 0.298 Bmis 0.253726319 Bmis Bmis samtools 15 9 4 3 0 0 . .
13822.p1 FMO1 1 171252296 A G 80 41 "p.L403L,p.L336L,p.L399L,p.L399L" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13822.p1 MAP4 3 47969769 C A 121 91 "p.D122Y,p.D122Y" 0 exonic nonsynonymous SNV 27.4 Dmis -1.048 Bmis 0.025 Bmis 0.215 Bmis 0.502485424 Bmis Bmis samtools . . . . 0 0 . .
13822.p1 MEF2C 5 88025100 G T 174 10 "p.T244N,p.T252N,p.T292N,p.T290N,p.T300N,p.T300N,p.T310N" 0 exonic nonsynonymous SNV 25.8 Dmis -0.587 Bmis 0.06 Dmis 0.342 Bmis 0.847353073 Dmis Bmis samtools . . . . 0 0 . no
13822.p1 PTGES 9 132501907 C T 15 11 p.A148T 4.37E-05 exonic nonsynonymous SNV 19.06 Bmis -0.905 Bmis 0.017 Bmis 0.087 Bmis 0.117191472 Bmis Bmis samtools . . . . 0 0 . .
13822.p1 KRTAP5-2 11 1619202 G A 43 6 p.G93G 3.73E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 14 2 29 4 0 0 . no
13822.p1 OR51B6 11 5373517 T C 67 19 p.H260H 8.93E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
13826.p1 INSR 19 7119480 G A 32 28 "p.P1246P,p.P1258P" 6.53E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13829.p1 KNG1 3 186460067 A G 17 13 p.T628A 0 exonic nonsynonymous SNV 3.028 Bmis -0.972 Bmis 0.004 Bmis 0.022 Bmis 0.372087926 Bmis Bmis samtools . . . . 0 0 . .
13829.p1 OCIAD1 4 48852062 T G 8 11 "p.L114V,p.L114V,p.L114V,p.L114V,p.L119V,p.L114V" 0 exonic nonsynonymous SNV 23.7 Dmis -0.641 Bmis 0.037 Bmis 0.24 Bmis 0.687587946 Bmis Bmis samtools . . . . 0 0 . .
13829.p1 CTNNA3 10 68535201 C A 27 34 . 0 splicing . 26 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
13829.p1 CHD4 12 6702297 A G 26 30 "p.I864T,p.I871T" 0 exonic nonsynonymous SNV 23.6 Dmis 1.034 Dmis 0.468 Dmis 0.923 Dmis 0.975270461 Dmis Dmis samtools . . . . 0 0 . .
13831.p1 STARD4 5 110843072 C G 78 75 "p.Q20H,p.Q20H,p.Q20H,p.Q20H" 0 exonic nonsynonymous SNV 18.51 Bmis -0.899 Bmis 0.01 Bmis 0.172 Bmis 0.624650772 Bmis Bmis samtools . . . . 0 0 . .
13832.p1 SLC6A1 3 11067472 C T 32 43 "p.A110V,p.A110V,p.A288V,p.A168V,p.A288V" 0 exonic nonsynonymous SNV 35 Dmis 1.082 Dmis 0.83 Dmis 0.962 Dmis 0.989794971 Dmis Dmis samtools . . . . 0 0 . .
13832.p1 MPP6 7 24681464 A G 54 35 "p.I83V,p.I83V" 0 exonic nonsynonymous SNV 25 Dmis -1.067 Bmis 0.015 Bmis 0.163 Bmis 0.365710855 Bmis Bmis samtools . . . . 0 0 . .
13833.p1 LRRC43 12 122685471 C T 7 6 "p.T600M,p.T415M" 9.69E-06 exonic nonsynonymous SNV 22.5 Dmis -1.01 Bmis 0.026 Bmis 0.016 Bmis 0.107399878 Bmis Bmis samtools . . . . 0 0 . .
13836.p1 C2orf71 2 29295335 G A 10 18 p.S598L 0 exonic nonsynonymous SNV 9.217 Bmis -1.009 Bmis 0.01 Bmis 0.074 Bmis 0.196701662 Bmis Bmis samtools . . . . 0 0 . .
13836.p1 LDHD 16 75146782 G A 9 13 "p.P399L,p.P376L" 9.76E-05 exonic nonsynonymous SNV 34 Dmis 0.919 Dmis 0.351 Dmis 0.879 Dmis 0.986702536 Dmis Dmis samtools . . . . 0 0 . .
13838.p1 TAS2R31 12 11183696 A C 29 6 p.V80G 0 exonic nonsynonymous SNV 18.56 Bmis -1.037 Bmis 0.003 Bmis 0.044 Bmis 0.228597637 Bmis Bmis samtools . . . . 0 0 . no
13839.p1 CRIPAK 4 1388793 A G 33 7 p.E165G 6.40E-05 exonic nonsynonymous SNV 12.41 Bmis -1.012 Bmis . Bmis 0.012 Bmis 0.084691592 Bmis Bmis samtools 25 3 8 4 0 0 . no
13843.p1 AGK 7 141321569 G A 143 104 p.E186K 0 exonic nonsynonymous SNV 24.4 Dmis -1.089 Bmis 0.011 Bmis 0.216 Bmis 0.38191621 Bmis Bmis samtools . . . . 0 0 . .
13843.p1 TMEM86B 19 55739655 A G 51 8 p.S68P 0 exonic nonsynonymous SNV 0.003 Bmis -1.051 Bmis 0.001 Bmis 0.034 Bmis 0.013882241 Bmis Bmis samtools 36 7 15 1 0 0 . ok
13844.p1 KIAA0319 6 24551743 T G 92 43 "p.T398P,p.T942P,p.T981P,p.T954P,p.T942P,p.T987P,p.T987P,p.T987P,p.T978P,p.T835P,p.T835P" 0 exonic nonsynonymous SNV 25 Dmis -1.054 Bmis 0.006 Bmis 0.145 Bmis 0.394990421 Bmis Bmis samtools . . . . 0 0 . .
13844.p1 ACO1 9 32425927 G T 32 9 "p.G427V,p.G427V" 0 exonic nonsynonymous SNV 32 Dmis 0.121 Dmis 0.127 Dmis 0.701 Dmis 0.883662 Dmis Dmis samtools . . . . 0 0 . no
13844.p1 CUBN 10 17127755 G A 28 21 p.R651X 0 exonic stopgain 44 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
13844.p1 OR51G1 11 4945248 T A 69 8 p.T108S 0 exonic nonsynonymous SNV 1.221 Bmis -0.892 Bmis 0.005 Bmis 0.066 Bmis 0.329540905 Bmis Bmis samtools . . . . 0 0 . no
13844.p1 CHD8 14 21871178 G A 18 17 "p.Q1238X,p.Q959X" 0 exonic stopgain 40 LGD . LGD . LGD 0.526 LGD . LGD LGD samtools . . . . 0 0 . .
13844.p1 TRAPPC8 18 29444743 T C 26 26 p.G864G 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13845.p1 HCLS1 3 121351315 G A 26 6 "p.P331P,p.P368P" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 3 3 23 3 0 0 . no
13845.p1 OTOGL 12 80714426 T C 10 12 p.S1334P 0 exonic nonsynonymous SNV 24.3 Dmis -1.075 Bmis 0.017 Bmis 0.079 Bmis 0.152612264 Bmis Bmis samtools . . . . 0 0 . .
13848.p1 ANTXR2 4 80954694 C T 113 42 "p.G243E,p.G166E,p.G166E,p.G243E" 0 exonic nonsynonymous SNV 29.6 Dmis 0.634 Dmis 0.21 Dmis 0.748 Dmis 0.956311726 Dmis Dmis samtools . . . . 0 0 . ok
13849.p1 MYNN 3 169500345 C T 74 71 "p.T438I,p.T438I,p.T438I" 0 exonic nonsynonymous SNV 23.8 Dmis -1.077 Bmis 0.025 Bmis 0.232 Bmis 0.450688432 Bmis Bmis samtools . . . . 0 0 . .
13851.p1 SUCLG2 3 67578618 G A 39 54 "p.Q119X,p.Q119X" 0 exonic stopgain 39 LGD . LGD . LGD 0.146 LGD . LGD LGD samtools 22 31 17 23 0 0 . .
13851.p1 ANKRD17 4 73981598 T G 79 92 "p.E1157D,p.E1295D,p.E1407D,p.E1408D" 0 exonic nonsynonymous SNV 23.9 Dmis -0.438 Bmis 0.019 Bmis 0.264 Bmis 0.508253471 Bmis Bmis samtools . . . . 0 0 . .
13852.p1 PLIN4 19 4511746 A T 34 7 p.N728K 0 exonic nonsynonymous SNV 0.76 Bmis -1.167 Bmis . Bmis 0.102 Bmis . Bmis Bmis samtools 28 6 6 1 0 0 . no
13855.p1 USP7 16 8996017 G C 26 8 "p.P641A,p.P599A,p.P657A,p.P558A" 0 exonic nonsynonymous SNV 19.49 Bmis -1.059 Bmis 0.019 Bmis 0.274 Bmis 0.402048819 Bmis Bmis samtools . . . . 0 0 . ok
13856.p1 MTERF4 2 242035720 T A 26 34 "p.K92M,p.K280M" 0 exonic nonsynonymous SNV 25.9 Dmis -0.49 Bmis 0.074 Dmis 0.456 Bmis 0.512481276 Bmis Bmis samtools . . . . 0 0 . .
13857.p1 PTGFRN 1 117527332 C T 117 114 p.A733V 3.25E-05 exonic nonsynonymous SNV 18.78 Bmis -1.082 Bmis 0.01 Bmis 0.04 Bmis 0.263709349 Bmis Bmis samtools . . . . 0 0 . .
13859.p1 FAM177A1 14 35548132 G A 23 15 . 0 splicing . 26 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
13863.p1 SLC22A1 6 160564611 C A 103 26 "p.R439R,p.R439R" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
13867.p1 GGT7 20 33449302 C A 53 57 "p.E207D,p.E207D" 0 exonic nonsynonymous SNV 27.7 Dmis -0.861 Bmis 0.038 Bmis 0.441 Bmis 0.510359658 Bmis Bmis samtools . . . . 0 0 . .
13868.p1 DMC1 22 38917681 A G 65 46 "p.H240H,p.H295H" 8.95E-06 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13869.p1 RAPGEF4 2 173885400 A G 53 61 "p.N517S,p.N566S,p.N593S,p.N584S,p.N737S" 0 exonic nonsynonymous SNV 26.7 Dmis -1.09 Bmis 0.03 Bmis 0.346 Bmis 0.639683212 Bmis Bmis samtools . . . . 0 0 . .
13869.p1 GSDMB 17 38066132 C T 27 21 "p.T151T,p.T151T,p.T151T,p.T151T" 0 exonic synonymous SNV . synonymous . synonymous . synonymous 0.042 synonymous . synonymous synonymous samtools . . . . 0 0 . .
13872.p1 ZNF91 19 23545013 A G 57 6 "p.H224H,p.H256H" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
13874.p1 FBXL6 8 145580668 C T 11 12 "p.L251L,p.L245L" 1.80E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13875.p1 TNIP3 4 122071336 G A 23 21 "p.S177S,p.S247S,p.S254S" 5.38E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13878.p1 PTGES 9 132515263 C T 16 18 p.S10N 0 exonic nonsynonymous SNV 0.512 Bmis -1.05 Bmis 0.008 Bmis 0.077 Bmis 0.067524289 Bmis Bmis samtools . . . . 0 0 . .
13880.p1 FCAR 19 55396826 G A 34 39 "p.E72K,p.E72K,p.E72K,p.E72K,p.E84K,p.E84K,p.E84K" 0 exonic nonsynonymous SNV 12.25 Bmis -1.061 Bmis 0.001 Bmis 0.067 Bmis 0.306053231 Bmis Bmis samtools . . . . 0 0 . .
13880.p1 PCNT 21 47811252 G T 6 11 "p.G1275W,p.G1393W" 0 exonic nonsynonymous SNV 23.7 Dmis -1.046 Bmis 0.018 Bmis 0.16 Bmis 0.604162711 Bmis Bmis samtools . . . . 0 0 . .
13880.p1 STARD8 X 67943803 C T 14 29 "p.L932L,p.L932L,p.L1012L" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13884.p1 DAPK1 9 90264933 G A 30 20 "p.R509Q,p.R509Q,p.R509Q,p.R509Q" 5.80E-05 exonic nonsynonymous SNV 23.7 Dmis -1.16 Bmis 0.01 Bmis 0.123 Bmis 0.57334958 Bmis Bmis samtools . . . . 0 0 . .
13890.p1 MSH6 2 48026852 G A 62 69 "p.R447H,p.R275H,p.R577H,p.R275H" 8.93E-05 exonic nonsynonymous SNV 32 Dmis 0.506 Dmis 0.203 Dmis 0.682 Dmis 0.944914651 Dmis Dmis samtools . . . . 0 0 . .
13890.p1 DYRK1A 21 38865466 G A 73 56 . 0 splicing . 27.6 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
13894.p1 ZEB2 2 145157228 G A 31 22 "p.P485L,p.P509L" 8.97E-06 exonic nonsynonymous SNV 23.7 Dmis -0.434 Bmis 0.041 Bmis 0.303 Bmis 0.289027228 Bmis Bmis samtools . . . . 0 0 . .
13894.p1 DTNA 18 32400797 C T 31 40 "p.L57L,p.L307L,p.L307L,p.L307L,p.L307L,p.L307L,p.L307L,p.L307L,p.L307L,p.L307L,p.L307L,p.L307L" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13895.p1 FBXW11 5 171326970 G A 22 8 "p.R136X,p.R170X,p.R157X" 0 exonic stopgain 36 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . ok
13896.p1 HNRNPU 1 245027141 C G 14 6 "p.G157R,p.G157R" 0 exonic nonsynonymous SNV 24.2 Dmis -1.039 Bmis 0.367 Dmis 0.056 Bmis 0.449967822 Bmis Bmis samtools 10 5 4 1 0 0 . ok
13896.p1 CKAP2 13 53035315 T C 33 6 "p.H119H,p.H70H,p.H118H,p.H118H" 8.96E-06 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
13897.p1 CGGBP1 3 88104967 G A 14 7 "p.R54C,p.R54C,p.R54C" 2.98E-05 exonic nonsynonymous SNV 22.2 Dmis -1.006 Bmis 0.005 Bmis 0.298 Bmis 0.251679625 Bmis Bmis samtools 3 4 11 3 0 0 . .
13901.p1 ZNF548 19 57908526 C T 370 13 "p.A42A,p.A54A" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 198 7 172 6 0 0 . no
13902.p1 THBS3 1 155168285 A G 50 53 "p.D543D,p.D654D,p.D663D" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13902.p1 STK36 2 219562284 A G 23 16 "p.I933V,p.I954V" 0 exonic nonsynonymous SNV 15.21 Bmis -1.014 Bmis 0.013 Bmis 0.089 Bmis 0.771298113 Dmis Bmis samtools . . . . 0 0 . .
13906.p1 GMCL1 2 70106125 A G 11 8 p.K513E 0 exonic nonsynonymous SNV 10.24 Bmis -1.06 Bmis 0.004 Bmis 0.03 Bmis 0.409533911 Bmis Bmis samtools 2 2 9 6 0 0 . .
13910.p1 RNF25 2 219529550 C T 27 22 p.R238H 5.80E-05 exonic nonsynonymous SNV 27.1 Dmis -0.934 Bmis 0.018 Bmis 0.054 Bmis 0.421483937 Bmis Bmis samtools . . . . 0 0 . .
13910.p1 USP9X X 41025217 A T 4 58 "p.D693V,p.D693V" 0 exonic nonsynonymous SNV 27.5 Dmis -1.149 Bmis 0.187 Dmis 0.616 Dmis 0.966804571 Dmis Dmis samtools . . . . 0 0 . .
13911.p1 GIT1 17 27903116 C G 92 21 "p.V549L,p.V558L" 0 exonic nonsynonymous SNV 17 Bmis -0.999 Bmis 0.021 Bmis 0.041 Bmis 0.393344233 Bmis Bmis samtools . . . . 0 0 . no
13914.p1 RBPJL 20 43942709 G A 13 11 "p.P264P,p.P264P,p.P264P" 6.54E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13915.p1 DNAH11 7 21659676 G C 28 21 p.E1494Q 0 exonic nonsynonymous SNV 24.6 Dmis -0.452 Bmis 0.126 Dmis 0.217 Bmis 0.679214228 Bmis Bmis samtools . . . . 0 0 . .
13916.p1 LIN54 4 83852236 C T 25 24 "p.P547P,p.P415P,p.P415P,p.P415P,p.P636P" 6.54E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13926.p1 FBXW9 19 12800074 C T 30 6 p.G445S 6.55E-05 exonic nonsynonymous SNV 25.4 Dmis -0.662 Bmis 0.047 Bmis 0.135 Bmis 0.642887959 Bmis Bmis samtools . . . . 0 0 . ok
13930.p1 VPS13D 1 12428630 T C 54 40 "p.I3494T,p.I3519T" 0 exonic nonsynonymous SNV 28.9 Dmis -0.347 Bmis 0.029 Bmis 0.54 Dmis 0.143184339 Bmis Dmis samtools . . . . 0 0 . .
13931.p1 PHF3 6 64423108 C T 6 6 "p.A1875V,p.A1787V" 0 exonic nonsynonymous SNV 22.7 Dmis -0.949 Bmis 0.01 Bmis 0.031 Bmis 0.082315109 Bmis Bmis samtools . . . . 0 0 . .
13932.p1 SIRT1 10 69672259 A G 27 6 "p.I159M,p.I167M,p.I462M" 0 exonic nonsynonymous SNV 24.7 Dmis -0.907 Bmis 0.022 Bmis 0.274 Bmis 0.619184697 Bmis Bmis samtools . . . . 0 0 . ok
13932.p1 GRIN2B 12 13768560 C T 19 6 p.C456Y 0 exonic nonsynonymous SNV 31 Dmis -0.15 Bmis 0.902 Dmis 0.492 Bmis 0.924683754 Dmis Bmis samtools . . . . 0 0 . ok
13934.p1 OR52N5 11 5799640 G C 107 107 p.L75L 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13939.p1 OR2T1 1 248569659 A G 36 41 p.M122V 0 exonic nonsynonymous SNV 0.831 Bmis -0.981 Bmis 0.001 Bmis 0.066 Bmis 0.235038933 Bmis Bmis samtools . . . . 0 0 . .
13947.p1 DAXX 6 33290668 G A 35 37 p.G8G 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13947.p1 CSPG4 15 75969055 C A 14 15 p.V1935V 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 10 9 4 6 0 0 . .
13949.p1 MADCAM1 19 501762 A C 76 6 p.Q254P 0 exonic nonsynonymous SNV 0.002 Bmis -0.954 Bmis . Bmis 0.009 Bmis . Bmis Bmis samtools 38 3 38 3 0 0 . no
13951.p1 ZNF420 19 37619705 A G 24 30 "p.L604L,p.L533L,p.L604L,p.L533L,p.L533L,p.L604L,p.L533L,p.L533L" 5.80E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13957.p1 ZER1 9 131517806 A G 17 15 p.C13C 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13957.p1 PSMC4 19 40478364 C T 24 17 p.A75V 0 exonic nonsynonymous SNV 23.5 Dmis 0.913 Dmis 0.303 Dmis 0.744 Dmis 0.818637857 Dmis Dmis samtools . . . . 0 0 . .
13958.p1 RYR2 1 237666734 C T 51 63 p.R848C 8.95E-06 exonic nonsynonymous SNV 32 Dmis 0.936 Dmis 0.244 Dmis 0.597 Dmis 0.737910932 Bmis Dmis samtools . . . . 0 0 . .
13959.p1 HGC6.3 6 168376993 T C 44 7 p.M114V 0 exonic nonsynonymous SNV -1 Bmis . Bmis . Bmis . Bmis . Bmis Bmis samtools 14 2 30 5 0 0 . no
13961.p1 DARS2 1 173826737 A G 39 30 p.H611R 0 exonic nonsynonymous SNV 7.692 Bmis -0.723 Bmis 0.022 Bmis 0.185 Bmis 0.787669494 Dmis Bmis samtools . . . . 0 0 . .
13962.p1 HCLS1 3 121351315 G A 55 10 "p.P331P,p.P368P" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 14 5 41 5 0 0 . no
13963.p1 HEATR5B 2 37234420 A G 11 6 p.I1517T 8.96E-05 exonic nonsynonymous SNV 15.85 Bmis -0.999 Bmis 0.012 Bmis 0.225 Bmis 0.428747305 Bmis Bmis samtools . . . . 0 0 . .
13963.p1 INSM2 14 36004699 C T 1 9 p.P414L 5.82E-05 exonic nonsynonymous SNV 17.31 Bmis -0.779 Bmis 0.019 Bmis 0.076 Bmis 0.110078149 Bmis Bmis samtools . . . . 0 0 . .
13971.p1 PTPRZ1 7 121624123 A G 87 78 "p.R294G,p.R294G,p.R294G" 0 exonic nonsynonymous SNV 23.7 Dmis -0.851 Bmis 0.019 Bmis 0.245 Bmis 0.128874641 Bmis Bmis samtools . . . . 0 0 . .
13972.p1 REXO1 19 1818480 C T 44 34 . 0 splicing . 24.2 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
13973.p1 CNTNAP4 16 76523778 A G 20 29 "p.Q564R,p.Q384R,p.Q620R,p.Q221R,p.Q605R" 0 exonic nonsynonymous SNV 10.81 Bmis -1.043 Bmis 0.004 Bmis 0.025 Bmis 0.458101713 Bmis Bmis samtools 12 10 8 19 0 0 . .
13974.p1 MMP15 16 58079116 C T 24 14 p.G592G 3.65E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13977.p1 SLC22A24 11 62850754 C T 25 24 p.V416M 1.48E-05 exonic nonsynonymous SNV 16.2 Bmis -0.795 Bmis 0.16 Dmis 0.106 Bmis 0.391930173 Bmis Bmis samtools . . . . 0 0 . .
13978.p1 ANO6 12 45814873 C T 93 75 "p.T746M,p.T728M,p.T746M,p.T767M" 5.80E-05 exonic nonsynonymous SNV 35 Dmis 0.366 Dmis 0.158 Dmis 0.66 Dmis 0.695730965 Bmis Dmis samtools . . . . 0 0 . .
13979.p1 RUFY2 10 70143890 T C 32 29 "p.N213S,p.N189S,p.N247S,p.N282S" 0 exonic nonsynonymous SNV 12.63 Bmis -0.95 Bmis 0.009 Bmis 0.079 Bmis 0.622781534 Bmis Bmis samtools . . . . 0 0 . .
13980.p1 GPC5 13 92101155 C A 14 20 p.R102R 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . .
13981.p1 OR6V1 7 142750270 T G 42 36 p.V278G 0 exonic nonsynonymous SNV 24.9 Dmis -1.002 Bmis 0.001 Bmis 0.172 Bmis 0.658657864 Bmis Bmis samtools . . . . 0 0 . .
13982.p1 PARD3B 2 206480234 C G 20 14 "p.Y1036X,p.Y1043X,p.Y1004X,p.Y1105X" 0 exonic stopgain 43 LGD . LGD . LGD . LGD . LGD LGD samtools . . . . 0 0 . .
13983.p1 CCDC13 3 42772009 G A 27 7 p.A556A 2.98E-05 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools . . . . 0 0 . no
13983.p1 TRAF7 16 2226351 G A 7 9 p.R655Q 0 exonic nonsynonymous SNV 24.9 Dmis -0.769 Bmis 0.045 Bmis 0.237 Bmis 0.699564078 Bmis Bmis samtools . . . . 0 0 . .
13987.p1 PCDHA2 5 140175208 C A 59 18 "p.P220H,p.P220H,p.P220H" 0 exonic nonsynonymous SNV 28.7 Dmis 0.592 Dmis 0.18 Dmis 0.466 Bmis 0.874046351 Dmis Bmis samtools . . . . 0 0 . ok
13991.p1 PTCH1 9 98229669 G A 14 12 "p.V763V,p.V697V,p.V762V,p.V612V,p.V612V,p.V612V,p.V612V" 0 exonic synonymous SNV . synonymous . synonymous . synonymous . synonymous . synonymous synonymous samtools 4 2 10 10 0 0 . .
13991.p1 PTEN 10 89692790 G A 24 23 "p.D92N,p.D265N" 0 exonic nonsynonymous SNV 29.8 Dmis 0.989 Dmis 0.945 Dmis 0.924 Dmis 0.987844636 Dmis Dmis samtools 14 18 10 5 0 0 . .
13992.p1 SLFN5 17 33586581 G T 89 64 "p.G291V,p.G291V" 0 exonic nonsynonymous SNV 24.4 Dmis -0.356 Bmis 0.04 Bmis 0.404 Bmis 0.582605313 Bmis Bmis samtools . . . . 0 0 . .