Variant Type | Calling Status |
---|---|
Mutations | Called |
Copy number | Called |
Fusions | Called |
Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
---|---|---|---|---|---|---|---|
AADACL2 | p.D345Y | Missense | SNP | 0.538 | 2 | - | - |
AADACL4 | p.L75Yfs*5 | Frame_Shift_Del | DEL | 0.417 | 2 | - | - |
AARD | - | - | - | - | 3 | Gain | - |
AATK | p.P545H | Missense | SNP | 0.491 | 2 | - | - |
ABCA2 | p.I1858del | In_Frame_Del | DEL | 0.404 | 2 | - | - |
ABCC1 | p.K764del | In_Frame_Del | DEL | 0.084 | 2 | - | - |
ABCC3 | p.N1204Efs*50 | Frame_Shift_Ins | INS | 0.319 | 2 | - | - |
ABCC4 | - | - | - | - | 3 | Gain | - |
ABHD13 | - | - | - | - | 3 | Gain | - |
ABRA | - | - | - | - | 3 | Gain | - |
AC001226.2 | - | - | - | - | 3 | Gain | - |
AC009879.2 | - | - | - | - | 3 | Gain | - |
AC009879.3 | - | - | - | - | 3 | Gain | - |
AC010487.3 | - | - | - | - | 3 | Gain | - |
AC010615.4 | - | - | - | - | 3 | Gain | - |
AC012213.5 | - | - | - | - | 3 | Gain | - |
AC022826.2 | - | - | - | - | 3 | Gain | - |
AC036214.3 | - | - | - | - | 3 | Gain | - |
AC092329.3 | - | - | - | - | 3 | Gain | - |
AC100868.1 | - | - | - | - | 3 | Gain | - |
AC110275.1 | - | - | - | - | 3 | Gain | - |
AC131097.4 | p.I37Sfs*20 | Frame_Shift_Del | DEL | 0.406 | ND | ND | - |
AC138696.1 | - | - | - | - | 5 | Amp | - |
AC144573.1 | - | - | - | - | 3 | Gain | - |
AC233992.2 | - | - | - | - | 5 | Amp | - |
ACHE | p.P199T | Missense | SNP | 0.553 | 2 | - | - |
ACOD1 | - | - | - | - | 3 | Gain | - |
ACSM2A | p.R560* | Nonsense | SNP | 0.468 | 2 | - | - |
ACTB | p.T351A | Missense | SNP | 0.384 | 2 | - | - |
ACVR2A | p.D96Tfs*54 | Frame_Shift_Del | DEL | 0.545 | 2 | - | - |
ADAM18 | - | - | - | - | 3 | Gain | - |
ADAM2 | - | - | - | - | 3 | Gain | - |
ADAM20 | p.G167R | Missense | SNP | 0.636 | 2 | - | - |
ADAM32 | - | - | - | - | 3 | Gain | - |
ADAM9 | - | - | - | - | 3 | Gain | - |
ADAMTS18 | p.F695Lfs*7 | Frame_Shift_Del | DEL | 0.320 | 2 | - | - |
ADAMTS5 | p.G820D | Missense | SNP | 0.545 | 2 | - | - |
ADAMTS9 | p.L289Ffs*41 | Frame_Shift_Ins | INS | 0.250 | 2 | - | - |
ADCK5 | - | - | - | - | 5 | Amp | - |
ADCY4 | p.R343C | Missense | SNP | 0.513 | 2 | - | - |
ADCY8 | - | - | - | - | 3 | Gain | - |
ADD3 | p.W364Gfs*12 | Frame_Shift_Del | DEL | 0.448 | 2 | - | - |
ADGRA2 | - | - | - | - | 3 | Gain | - |
ADGRB1 | - | - | - | - | 5 | Amp | - |
ADGRB3 | p.E656* | Nonsense | SNP | 0.583 | 2 | - | - |
ADGRF4 | p.K82Sfs*29 | Frame_Shift_Del | DEL | 0.390 | 2 | - | - |
ADGRL1 | p.R261H | Missense | SNP | 0.366 | 2 | - | - |
ADHFE1 | - | - | - | - | 3 | Gain | - |
ADPRHL1 | - | - | - | - | 3 | Gain | - |
ADRA1D | p.S31Qfs*84 | Frame_Shift_Ins | INS | 0.381 | 2 | - | - |
ADRB3 | p.G319Afs*4 | Frame_Shift_Del | DEL | 0.364 | 3 | Gain | - |
AFF2 | p.K702N | Missense | SNP | 1.000 | ND | ND | - |
AGO2 | - | - | - | - | 5 | Amp | - |
AGTRAP | - | - | - | - | 3 | Gain | - |
AHNAK | p.T3625A | Missense | SNP | 0.360 | 2 | - | - |
AIRE | p.P368Rfs*10 | Frame_Shift_Del | DEL | 0.413 | 2 | - | - |
AKAP11 | - | - | - | - | 3 | Gain | - |
AKNAD1 | p.D85Tfs*39 | Frame_Shift_Del | DEL | 0.983 | 2 | - | - |
AL359736.1 | - | - | - | - | 3 | Gain | - |
AL512506.3 | - | - | - | - | 3 | Gain | - |
AL592490.1 | - | - | - | - | 3 | Gain | - |
ALG11 | - | - | - | - | 3 | Gain | - |
ALG5 | - | - | - | - | 3 | Gain | - |
ALKAL1 | - | - | - | - | 3 | Gain | - |
ALOX5AP | - | - | - | - | 3 | Gain | - |
ALPI | p.L317P | Missense | SNP | 0.488 | 2 | - | - |
ALPK2 | p.P1319S | Missense | SNP | 0.584 | 2 | - | - |
ALX4 | p.P329H | Missense | SNP | 0.522 | 2 | - | - |
AMER2 | - | - | - | - | 3 | Gain | - |
AMOTL1 | p.S427Afs*22 | Frame_Shift_Del | DEL | 0.470 | 2 | - | - |
ANAPC5 | p.Q671H | Missense | SNP | 0.516 | 2 | - | - |
ANGPT1 | - | - | - | - | 3 | Gain | - |
ANGPTL7 | - | - | - | - | 3 | Gain | - |
ANK1 | p.P1101Rfs*5 | Frame_Shift_Del | DEL | 0.275 | 3 | Gain | - |
ANK2 | p.G1731Vfs*7 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
ANK3 | p.S22Vfs*2 | Frame_Shift_Ins | INS | 0.357 | 2 | - | - |
ANKMY1 | p.A388T | Missense | SNP | 0.488 | 2 | - | - |
ANKRD10 | - | - | - | - | 3 | Gain | - |
ANKRD11 | p.K1464Tfs*89 | Frame_Shift_Del | DEL | 0.430 | 2 | - | - |
ANKRD46 | - | - | - | - | 3 | Gain | - |
ANKRD6 | p.K516N | Missense | SNP | 0.407 | 2 | - | - |
ANKRD62 | p.K480Sfs*5 | Frame_Shift_Del | DEL | 0.594 | 2 | - | - |
ANKRD9 | p.A79T | Missense | SNP | 0.474 | 2 | - | - |
ANO10 | p.D45Mfs*12 | Frame_Shift_Del | DEL | 0.532 | 2 | - | - |
ANXA13 | - | - | - | - | 3 | Gain | - |
AP2A2 | p.P604L | Missense | SNP | 0.509 | 2 | - | - |
AP2B1 | p.A446V | Missense | SNP | 0.434 | 2 | - | - |
AP3B1 | p.K923Nfs*4 | Frame_Shift_Del | DEL | 0.783 | 2 | - | - |
AP3M2 | - | - | - | - | 3 | Gain | - |
APOD | p.D181Y | Missense | SNP | 0.473 | 2 | - | - |
ARC | - | - | - | - | 5 | Amp | - |
ARFGEF1 | - | - | - | - | 3 | Gain | - |
ARGLU1 | - | - | - | - | 3 | Gain | - |
ARHGAP30 | p.R803M | Missense | SNP | 0.473 | 2 | - | - |
ARHGAP33 | p.R462H | Missense | SNP | 0.504 | 2 | - | - |
ARHGAP39 | - | - | - | - | 5 | Amp | - |
ARHGEF11 | p.P860T | Missense | SNP | 1.000 | 2 | - | - |
ARHGEF16 | p.P55L | Missense | SNP | 1.000 | 2 | - | - |
ARHGEF19 | - | - | - | - | 3 | Gain | - |
ARHGEF25 | p.R239Q | Missense | SNP | 0.401 | 2 | - | - |
ARHGEF6 | p.A604T | Missense | SNP | 1.000 | ND | ND | - |
ARHGEF7 | - | - | - | - | 3 | Gain | - |
ARL11 | - | - | - | - | 3 | Gain | - |
ARL14EP | p.G52V | Missense | SNP | 0.475 | 2 | - | - |
ARMC1 | - | - | - | - | 3 | Gain | - |
ARMC7 | p.A44D | Missense | SNP | 0.476 | 2 | - | - |
AS3MT | p.E301G | Missense | SNP | 0.429 | 2 | - | - |
ASAP1 | p.L107* | Frame_Shift_Del | DEL | 0.202 | 3 | Gain | - |
ASCL1 | p.R98H | Missense | SNP | 0.556 | 2 | - | - |
ASH2L | - | - | - | - | 3 | Gain | - |
ASIC1 | p.R317H | Missense | SNP | 0.470 | 2 | - | - |
ASPH | - | - | - | - | 3 | Gain | - |
ATAD2 | - | - | - | - | 3 | Gain | - |
ATG2A | p.P554H | Missense | SNP | 0.487 | 2 | - | - |
ATG9A | p.Q640H | Missense | SNP | 0.518 | 2 | - | - |
ATM | p.X1593_splice | Splice_Site | SNP | 0.325 | 2 | - | - |
ATP11A | - | - | - | - | 3 | Gain | - |
ATP11B | - | - | - | - | 1 | Loss | - |
ATP12A | - | - | - | - | 3 | Gain | - |
ATP2A1 | p.R822Pfs*39 | Frame_Shift_Ins | INS | 0.270 | 2 | - | - |
ATP4B | p.L245Wfs*26 | Frame_Shift_Del | DEL | 0.318 | 3 | Gain | - |
ATP5SL | p.E229A | Missense | SNP | 0.537 | ND | ND | - |
ATP6V0D2 | - | - | - | - | 3 | Gain | - |
ATP6V1B1 | p.I386Sfs*10 | Frame_Shift_Del | DEL | 0.432 | 2 | - | - |
ATP6V1C1 | - | - | - | - | 3 | Gain | - |
ATP6V1H | - | - | - | - | 3 | Gain | - |
ATP7B | - | - | - | - | 3 | Gain | - |
ATP8A2 | - | - | - | - | 3 | Gain | - |
AURKC | p.V227A | Missense | SNP | 0.463 | 2 | - | - |
AUTS2 | p.L1158R | Missense | SNP | 0.514 | 2 | - | - |
AXIN2 | p.Q784R | Missense | SNP | 0.314 | 2 | - | - |
AZIN1 | - | - | - | - | 3 | Gain | - |
B2M | p.L7* p.T93Hfs*2 | Frame_Shift_Del Frame_Shift_Ins | DEL INS | 0.505 0.335 | 2 | - | - |
B3GLCT | - | - | - | - | 3 | Gain | - |
BAALC | - | - | - | - | 3 | Gain | - |
BAG4 | - | - | - | - | 3 | Gain | - |
BAIAP2L1 | p.A464T | Missense | SNP | 0.603 | 2 | - | - |
BAX | p.E41Rfs*19 | Frame_Shift_Del | DEL | 0.945 | 2 | - | - |
BAZ1B | p.G427Dfs*2 | Frame_Shift_Del | DEL | 0.522 | 2 | - | - |
BBOX1 | p.Y177C | Missense | SNP | 0.644 | 2 | - | - |
BCAP29 | p.W114Gfs*2 | Frame_Shift_Del | DEL | 0.278 | 2 | - | - |
BCAR3 | p.R170* | Nonsense | SNP | 0.412 | 2 | - | - |
BHLHE22 | - | - | - | - | 3 | Gain | - |
BIRC8 | - | - | - | - | 3 | Gain | - |
BIVM | - | - | - | - | 3 | Gain | - |
BIVM-ERCC5 | - | - | - | - | 3 | Gain | - |
BMP3 | p.R40S | Missense | SNP | 0.497 | 2 | - | - |
BMP6 | p.E112Q | Missense | SNP | 0.521 | 2 | - | - |
BOLL | p.Q200P | Missense | SNP | 0.526 | 2 | - | - |
BOP1 | - | - | - | - | 5 | Amp | - |
BORA | - | - | - | - | 3 | Gain | - |
BORCS7 | p.L80I | Missense | SNP | 0.361 | 2 | - | - |
BRCA2 | - | - | - | - | 3 | Gain | - |
BRD8 | p.A937T | Missense | SNP | 0.460 | 2 | - | - |
BRF2 | - | - | - | - | 3 | Gain | - |
BRPF3 | p.Q10P | Missense | SNP | 0.544 | 2 | - | - |
BRSK2 | - | - | - | - | 3 | Gain | - |
BSN | p.T231S | Missense | SNP | 0.546 | 2 | - | - |
BTAF1 | p.V1122A | Missense | SNP | 0.422 | 2 | - | - |
BTBD17 | p.R335C | Missense | SNP | 0.515 | 2 | - | - |
BUB1 | p.Y1003C | Missense | SNP | 0.398 | 2 | - | - |
C12orf42 | p.R337Afs*19 | Frame_Shift_Del | DEL | 0.424 | 2 | - | - |
C17orf51 | p.L147Cfs*29 | Frame_Shift_Del | DEL | 0.562 | 2 | - | - |
C19orf45 | p.D256N | Missense | SNP | 0.351 | ND | ND | - |
C1orf167 | - | - | - | - | 3 | Gain | - |
C1QTNF5 | p.A195Gfs*8 | Frame_Shift_Ins | INS | 0.312 | 2 | - | - |
C1QTNF9 | - | - | - | - | 3 | Gain | - |
C1QTNF9B | - | - | - | - | 3 | Gain | - |
C3 | p.G335C | Missense | SNP | 0.492 | 2 | - | - |
C4B | - | - | - | - | 3 | Gain | - |
C6orf89 | p.K52Rfs*15 | Frame_Shift_Del | DEL | 0.542 | 2 | - | - |
C8orf33 | - | - | - | - | 5 | Amp | - |
C8orf34 | - | - | - | - | 3 | Gain | - |
C8orf37 | - | - | - | - | 3 | Gain | - |
C8orf44 | - | - | - | - | 3 | Gain | - |
C8orf59 | - | - | - | - | 3 | Gain | - |
C8orf76 | - | - | - | - | 3 | Gain | - |
C8orf82 | - | - | - | - | 5 | Amp | - |
C8orf86 | - | - | - | - | 3 | Gain | - |
C8orf88 | - | - | - | - | 3 | Gain | - |
C8orf89 | - | - | - | - | 3 | Gain | - |
C9 | - | - | - | - | 1 | Loss | - |
C9orf114 | p.K34Nfs*7 p.T241I p.A54T | Frame_Shift_Del Missense Missense | DEL SNP SNP | 0.562 0.365 0.333 | ND | ND | - |
CA1 | - | - | - | - | 3 | Gain | - |
CA13 | - | - | - | - | 3 | Gain | - |
CA2 | - | - | - | - | 3 | Gain | - |
CA3 | - | - | - | - | 3 | Gain | - |
CA8 | - | - | - | - | 3 | Gain | - |
CAB39L | - | - | - | - | 3 | Gain | - |
CABYR | p.S345Vfs*20 | Frame_Shift_Del | DEL | 0.413 | 2 | - | - |
CACNA1B | p.N60Tfs*41 | Frame_Shift_Del | DEL | 0.319 | 2 | - | - |
CACNA1S | p.M1638T | Missense | SNP | 1.000 | 2 | - | - |
CALB1 | - | - | - | - | 3 | Gain | - |
CAMK2D | p.L305M | Missense | SNP | 0.476 | 2 | - | - |
CAMTA2 | p.R733Q | Missense | SNP | 0.441 | 2 | - | - |
CARS2 | - | - | - | - | 3 | Gain | - |
CASC1 | p.W616* | Nonsense | SNP | 0.360 | 2 | - | - |
CASP8 | p.Q279* | Nonsense | SNP | 0.556 | 2 | - | - |
CASP8AP2 | p.R491Kfs*11 | Frame_Shift_Ins | INS | 0.333 | 2 | - | - |
CCBE1 | p.P246S | Missense | SNP | 0.450 | 2 | - | - |
CCDC122 | - | - | - | - | 3 | Gain | - |
CCDC126 | p.A80S | Missense | SNP | 0.579 | 2 | - | - |
CCDC15 | p.K194Rfs*29 | Frame_Shift_Del | DEL | 0.406 | 2 | - | - |
CCDC166 | p.R329C | Missense | SNP | 0.245 | 5 | Amp | - |
CCDC168 | - | - | - | - | 3 | Gain | - |
CCDC169 | - | - | - | - | 3 | Gain | - |
CCDC169-SOHLH2 | - | - | - | - | 3 | Gain | - |
CCDC171 | p.N692Tfs*5 | Frame_Shift_Del | DEL | 0.688 | 2 | - | - |
CCDC39 | - | - | - | - | 1 | Loss | - |
CCDC69 | p.S230G | Missense | SNP | 0.408 | 2 | - | - |
CCDC70 | - | - | - | - | 3 | Gain | - |
CCDC73 | p.N638Ifs*18 | Frame_Shift_Del | DEL | 0.519 | 2 | - | - |
CCDC8 | p.K71Qfs*77 | Frame_Shift_Ins | INS | 0.222 | 2 | - | - |
CCL11 | p.D75N | Missense | SNP | 0.458 | 2 | - | - |
CCNA1 | - | - | - | - | 3 | Gain | - |
CCNE2 | - | - | - | - | 3 | Gain | - |
CD200R1 | p.K262Nfs*17 | Frame_Shift_Del | DEL | 0.382 | 2 | - | - |
CDADC1 | - | - | - | - | 3 | Gain | - |
CDC16 | - | - | - | - | 3 | Gain | - |
CDC25C | p.K244Sfs*15 | Frame_Shift_Del | DEL | 0.600 | 2 | - | - |
CDC37L1 | p.F136Lfs*37 | Frame_Shift_Del | DEL | 0.391 | 2 | - | - |
CDC42BPG | p.R1217C | Missense | SNP | 0.484 | 2 | - | - |
CDH1 | p.R224C | Missense | SNP | 0.500 | 2 | - | - |
CDH10 | p.F526Sfs*3 | Frame_Shift_Del | DEL | 0.424 | 2 | - | - |
CDH16 | p.K563Sfs*22 | Frame_Shift_Del | DEL | 0.341 | 2 | - | - |
CDH17 | - | - | - | - | 3 | Gain | - |
CDK12 | p.R331W | Missense | SNP | 0.573 | 2 | - | - |
CDK8 | - | - | - | - | 3 | Gain | - |
CDKN1B | p.D127* | Frame_Shift_Ins | INS | 0.359 | 2 | - | - |
CDT1 | p.P373S | Missense | SNP | 0.482 | 2 | - | - |
CDX2 | - | - | - | - | 3 | Gain | - |
CEACAM18 | p.G30D | Missense | SNP | 0.442 | 2 | - | - |
CEBPD | - | - | - | - | 3 | Gain | - |
CEL | p.V596Rfs*6 | Frame_Shift_Ins | INS | 0.223 | 2 | - | - |
CELSR1 | p.P160L | Missense | SNP | 0.428 | 2 | - | - |
CENPB | p.D190V | Missense | SNP | 0.438 | 2 | - | - |
CENPJ | - | - | - | - | 3 | Gain | - |
CENPU | p.S96Ffs*18 | Frame_Shift_Del | DEL | 0.567 | 2 | - | - |
CEP170B | p.E1143D | Missense | SNP | 0.513 | 2 | - | - |
CERK | p.K477Rfs*74 | Frame_Shift_Del | DEL | 0.074 | 2 | - | - |
CES2 | p.T20S | Missense | SNP | 0.539 | 2 | - | - |
CGB1 | p.R4G | Missense | SNP | 0.154 | 2 | - | - |
CHADL | p.X688_splice | Splice_Site | SNP | 0.536 | 2 | - | - |
CHAMP1 | - | - | - | - | 3 | Gain | - |
CHCHD7 | - | - | - | - | 3 | Gain | - |
CHD2 | p.P1779L | Missense | SNP | 0.423 | 2 | - | - |
CHD5 | p.K577N | Missense | SNP | 0.055 | 2 | - | - |
CHD7 | - | - | - | - | 3 | Gain | - |
CHD9 | p.R2431Gfs*8 | Frame_Shift_Del | DEL | 0.333 | 2 | - | - |
CHGA | p.E228Gfs*10 | Frame_Shift_Del | DEL | 0.510 | 2 | - | - |
CHMP4C | - | - | - | - | 3 | Gain | - |
CHMP6 | p.E176K | Missense | SNP | 0.438 | 2 | - | - |
CHPF2 | p.S648Pfs*13 | Frame_Shift_Del | DEL | 0.536 | 2 | - | - |
CHRAC1 | - | - | - | - | 3 | Gain | - |
CHRNA6 | - | - | - | - | 3 | Gain | - |
CHRNA7 | p.S394R | Missense | SNP | 0.230 | 2 | - | - |
CHRNB3 | - | - | - | - | 3 | Gain | - |
CHST5 | p.R72C | Missense | SNP | 0.392 | 2 | - | - |
CIDEB | p.M162L | Missense | SNP | 0.423 | 2 | - | - |
CIZ1 | p.E784A | Missense | SNP | 0.541 | 2 | - | - |
CKAP2 | p.K606Rfs*14 | Frame_Shift_Del | DEL | 0.315 | 3 | Gain | - |
CLASP1 | - | - | - | - | 3 | Gain | - |
CLASP2 | p.M744Wfs*33 | Frame_Shift_Del | DEL | 0.683 | 2 | - | - |
CLCN6 | - | - | - | - | 3 | Gain | - |
CLCNKA | p.Y99C | Missense | SNP | 0.433 | 2 | - | - |
CLCNKB | - | - | - | - | 3 | Gain | - |
CLDN10 | - | - | - | - | 3 | Gain | - |
CLK1 | p.K173Rfs*11 | Frame_Shift_Del | DEL | 0.612 | 2 | - | - |
CLN5 | - | - | - | - | 3 | Gain | - |
CLOCK | p.L123* | Frame_Shift_Del | DEL | 0.370 | 2 | - | - |
CLPTM1 | p.F307del | In_Frame_Del | DEL | 0.526 | 2 | - | - |
CLRN2 | p.V156M | Missense | SNP | 0.537 | 2 | - | - |
CLVS1 | - | - | - | - | 3 | Gain | - |
CLYBL | - | - | - | - | 3 | Gain | - |
CNBD1 | - | - | - | - | 3 | Gain | - |
CNGB3 | - | - | - | - | 3 | Gain | - |
CNMD | - | - | - | - | 3 | Gain | - |
CNOT3 | p.S325F | Missense | SNP | 0.504 | 2 | - | - |
CNTD2 | p.L257P | Missense | SNP | 0.479 | 2 | - | - |
CNTNAP1 | p.P1359T | Missense | SNP | 0.512 | 2 | - | - |
CNTNAP5 | p.L58R | Missense | SNP | 0.523 | 2 | - | - |
COBLL1 | p.L907Cfs*12 | Frame_Shift_Del | DEL | 0.957 | 2 | - | - |
COG3 | - | - | - | - | 3 | Gain | - |
COG6 | - | - | - | - | 3 | Gain | - |
COL14A1 | - | - | - | - | 3 | Gain | - |
COL15A1 | p.R1160K | Missense | SNP | 0.476 | 2 | - | - |
COL1A2 | p.R777C | Missense | SNP | 0.485 | 2 | - | - |
COL25A1 | - | - | - | - | 1 | Loss | - |
COL27A1 | - | - | - | - | 1 | Loss | - |
COL28A1 | p.C981Vfs*43 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
COL4A1 | - | - | - | - | 3 | Gain | - |
COL4A3 | - | - | - | - | 1 | Loss | - |
COL5A2 | - | - | - | - | 1 | Loss | - |
COL7A1 | p.G2749Rfs*41 p.G100W | Frame_Shift_Ins Missense | INS SNP | 0.312 0.414 | 2 | - | - |
COL8A2 | p.R434C | Missense | SNP | 0.439 | 2 | - | - |
COL9A1 | - | - | - | - | 1 | Loss | - |
COLEC10 | - | - | - | - | 3 | Gain | - |
COLGALT1 | p.L428Cfs*21 p.R439C | Frame_Shift_Del Missense | DEL SNP | 0.648 0.638 | 2 | - | - |
COMMD5 | - | - | - | - | 5 | Amp | - |
COMMD6 | - | - | - | - | 3 | Gain | - |
COPS5 | - | - | - | - | 3 | Gain | - |
COX6C | - | - | - | - | 3 | Gain | - |
CPA1 | p.G225V | Missense | SNP | 0.434 | 2 | - | - |
CPA6 | - | - | - | - | 3 | Gain | - |
CPB2 | - | - | - | - | 3 | Gain | - |
CPD | p.V238A | Missense | SNP | 0.615 | 2 | - | - |
CPNE3 | - | - | - | - | 3 | Gain | - |
CPQ | - | - | - | - | 3 | Gain | - |
CPSF1 | - | - | - | - | 5 | Amp | - |
CRACR2B | p.R372S | Missense | SNP | 0.573 | 2 | - | - |
CRAT | p.T465I | Missense | SNP | 0.502 | 2 | - | - |
CRB1 | p.E260G | Missense | SNP | 0.507 | 2 | - | - |
CREBZF | p.A10T | Missense | SNP | 0.523 | 2 | - | - |
CRH | - | - | - | - | 3 | Gain | - |
CRIP3 | p.Q106Kfs*9 | Frame_Shift_Del | DEL | 0.418 | 2 | - | - |
CRISPLD1 | - | - | - | - | 3 | Gain | - |
CRYBG3 | p.F2513V | Missense | SNP | 0.857 | 2 | - | - |
CRYL1 | - | - | - | - | 3 | Gain | - |
CSMD3 | p.R1470L | Missense | SNP | 0.164 | 3 | Gain | - |
CSN1S1 | - | - | - | - | 1 | Loss | - |
CSN2 | - | - | - | - | 1 | Loss | - |
CSN3 | - | - | - | - | 1 | Loss | - |
CSNK1A1L | - | - | - | - | 3 | Gain | - |
CSNK1D | p.A377G | Missense | SNP | 0.571 | 2 | - | - |
CSPP1 | - | - | - | - | 3 | Gain | - |
CTC-260F20.3 | p.G15Afs*24 | Frame_Shift_Del | DEL | 0.409 | ND | ND | - |
CTD-3088G3.8 | p.G1069Afs*24 | Frame_Shift_Del | DEL | 0.480 | ND | ND | - |
CTH | p.N362Y | Missense | SNP | 1.000 | 2 | - | - |
CTHRC1 | - | - | - | - | 3 | Gain | - |
CUL4A | - | - | - | - | 3 | Gain | - |
CUX2 | p.Q585* | Nonsense | SNP | 0.435 | 2 | - | - |
CX3CL1 | p.G281D | Missense | SNP | 0.462 | 2 | - | - |
CXCL17 | p.R33M | Missense | SNP | 0.484 | 2 | - | - |
CYC1 | - | - | - | - | 5 | Amp | - |
CYHR1 | - | - | - | - | 5 | Amp | - |
CYP11B1 | - | - | - | - | 5 | Amp | - |
CYP11B2 | - | - | - | - | 5 | Amp | - |
CYP3A4 | p.M9I | Missense | SNP | 0.239 | 2 | - | - |
CYP4A11 | p.S9Afs*23 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
CYP7A1 | - | - | - | - | 3 | Gain | - |
CYP7B1 | - | - | - | - | 3 | Gain | - |
CYSLTR2 | - | - | - | - | 3 | Gain | - |
CYTH1 | p.R388W | Missense | SNP | 0.505 | 2 | - | - |
DAAM2 | p.G526Wfs*14 p.W398L | Frame_Shift_Ins Missense | INS SNP | 0.348 0.457 | 2 | - | - |
DAB2IP | p.G810V p.Q916R | Missense Missense | SNP SNP | 0.557 0.437 | 2 | - | - |
DACH1 | - | - | - | - | 3 | Gain | - |
DAOA | - | - | - | - | 3 | Gain | - |
DAXX | p.A313T | Missense | SNP | 0.528 | 2 | - | - |
DCAF12L1 | p.S23L | Missense | SNP | 0.164 | ND | ND | - |
DCAF13 | - | - | - | - | 3 | Gain | - |
DCAF4L2 | - | - | - | - | 3 | Gain | - |
DCLK1 | - | - | - | - | 3 | Gain | - |
DCLK3 | p.D173N | Missense | SNP | 0.553 | 2 | - | - |
DCSTAMP | - | - | - | - | 3 | Gain | - |
DCT | - | - | - | - | 3 | Gain | - |
DCUN1D2 | - | - | - | - | 3 | Gain | - |
DDHD2 | - | - | - | - | 3 | Gain | - |
DDX3Y | p.D127G | Missense | SNP | 1.000 | ND | ND | - |
DEAF1 | p.A550V | Missense | SNP | 0.409 | 2 | - | - |
DECR1 | - | - | - | - | 3 | Gain | - |
DENND3 | - | - | - | - | 5 | Amp | - |
DEPDC5 | p.G647W p.D978N | Missense Missense | SNP SNP | 0.512 0.539 | 2 | - | - |
DEPTOR | - | - | - | - | 3 | Gain | - |
DERA | p.V157del | In_Frame_Del | DEL | 0.310 | 2 | - | - |
DERL1 | - | - | - | - | 3 | Gain | - |
DERL3 | p.P220S | Missense | SNP | 0.463 | 2 | - | - |
DGAT1 | p.R274Q | Missense | SNP | 0.218 | 5 | Amp | - |
DGKH | - | - | - | - | 3 | Gain | - |
DHRS12 | - | - | - | - | 3 | Gain | - |
DHX38 | p.R362H | Missense | SNP | 0.399 | 2 | - | - |
DIAPH3 | - | - | - | - | 3 | Gain | - |
DIS3 | - | - | - | - | 3 | Gain | - |
DISP3 | - | - | - | - | 3 | Gain | - |
DKK4 | - | - | - | - | 3 | Gain | - |
DLEU7 | - | - | - | - | 3 | Gain | - |
DLG2 | p.T362A | Missense | SNP | 0.581 | 2 | - | - |
DMRT1 | p.S163G | Missense | SNP | 0.401 | 2 | - | - |
DNAH17 | p.N3284Tfs*10 | Frame_Shift_Del | DEL | 0.618 | 2 | - | - |
DNAH2 | p.E2500A | Missense | SNP | 0.483 | 2 | - | - |
DNAH8 | - | - | - | - | 1 | Loss | - |
DNAJC12 | p.P161L | Missense | SNP | 0.425 | 2 | - | - |
DNAJC15 | - | - | - | - | 3 | Gain | - |
DNAJC19 | - | - | - | - | 1 | Loss | - |
DNAJC3 | - | - | - | - | 3 | Gain | - |
DNAJC5B | - | - | - | - | 3 | Gain | - |
DNM2 | p.I679N | Missense | SNP | 0.542 | 2 | - | - |
DOCK9 | p.F1334Lfs*19 | Frame_Shift_Del | DEL | 0.412 | 3 | Gain | - |
DPP10 | p.P12Rfs*34 | Frame_Shift_Del | DEL | 0.429 | 2 | - | - |
DPPA2 | p.P30S | Missense | SNP | 0.547 | 2 | - | - |
DPY19L4 | - | - | - | - | 3 | Gain | - |
DPYS | p.V170M | Missense | SNP | 0.211 | 3 | Gain | - |
DRAXIN | - | - | - | - | 3 | Gain | - |
DSCC1 | - | - | - | - | 3 | Gain | - |
DST | p.L1539Wfs*8 | Frame_Shift_Del | DEL | 0.471 | 2 | - | - |
DTX2 | p.H232Tfs*122 | Frame_Shift_Ins | INS | 0.120 | 2 | - | - |
DTX3 | p.C170Wfs*28 | Frame_Shift_Del | DEL | 0.521 | 2 | - | - |
DUSP8 | - | - | - | - | 3 | Gain | - |
DVL1 | p.G136C | Missense | SNP | 0.544 | 2 | - | - |
DYNC1I1 | p.A578Gfs*29 | Frame_Shift_Ins | INS | 0.308 | 2 | - | - |
DYNC1I2 | p.R57Gfs*13 | Frame_Shift_Del | DEL | 0.690 | 2 | - | - |
DZIP1 | - | - | - | - | 3 | Gain | - |
E2F5 | - | - | - | - | 3 | Gain | - |
E2F7 | p.R334H | Missense | SNP | 0.465 | 2 | - | - |
EBAG9 | - | - | - | - | 3 | Gain | - |
EBPL | - | - | - | - | 3 | Gain | - |
ECT2 | - | - | - | - | 3 | Gain | - |
EDNRB | - | - | - | - | 3 | Gain | - |
EEF1AKMT1 | - | - | - | - | 3 | Gain | - |
EEF1D | - | - | - | - | 5 | Amp | - |
EFCAB1 | - | - | - | - | 3 | Gain | - |
EFCAB5 | p.G885D | Missense | SNP | 0.412 | 2 | - | - |
EFEMP1 | p.F6Sfs*2 | Frame_Shift_Del | DEL | 0.457 | 2 | - | - |
EFNB2 | - | - | - | - | 3 | Gain | - |
EFR3A | - | - | - | - | 3 | Gain | - |
EIF3E | - | - | - | - | 3 | Gain | - |
EIF3H | - | - | - | - | 3 | Gain | - |
EIF3I | p.R230C | Missense | SNP | 0.469 | 2 | - | - |
EIF4EBP1 | - | - | - | - | 3 | Gain | - |
EIF5A | p.P139T | Missense | SNP | 0.452 | 2 | - | - |
EIF5A2 | - | - | - | - | 3 | Gain | - |
ELF1 | - | - | - | - | 3 | Gain | - |
ELN | p.X55_splice | Splice_Site | SNP | 0.333 | 2 | - | - |
ELOC | - | - | - | - | 3 | Gain | - |
ELOVL2 | p.R111W | Missense | SNP | 0.450 | 2 | - | - |
EMC2 | - | - | - | - | 3 | Gain | - |
EML5 | p.D91E | Missense | SNP | 0.513 | 2 | - | - |
ENOX1 | - | - | - | - | 3 | Gain | - |
ENPP2 | - | - | - | - | 3 | Gain | - |
ENY2 | - | - | - | - | 3 | Gain | - |
EPB41L3 | p.P593H | Missense | SNP | 0.419 | 2 | - | - |
EPHA2 | - | - | - | - | 3 | Gain | - |
EPHA4 | p.D708G | Missense | SNP | 0.382 | 2 | - | - |
EPHA5 | p.V462A | Missense | SNP | 0.500 | 2 | - | - |
EPPK1 | - | - | - | - | 5 | Amp | - |
EPSTI1 | - | - | - | - | 3 | Gain | - |
ERBB3 | p.G582E | Missense | SNP | 0.435 | 2 | - | - |
ERCC5 | - | - | - | - | 3 | Gain | - |
ERG | p.D7N | Missense | SNP | 0.732 | 2 | - | - |
ERICH5 | - | - | - | - | 3 | Gain | - |
ERICH6B | - | - | - | - | 3 | Gain | - |
ERLIN2 | - | - | - | - | 3 | Gain | - |
ERVV-1 | - | - | - | - | 3 | Gain | - |
ERVV-2 | - | - | - | - | 3 | Gain | - |
ESD | - | - | - | - | 3 | Gain | - |
ESPNL | p.R971Pfs*10 | Frame_Shift_Ins | INS | 0.308 | 2 | - | - |
ESRP1 | - | - | - | - | 3 | Gain | - |
ETFB | p.Q110* | Nonsense | SNP | 0.502 | 2 | - | - |
EXOSC4 | - | - | - | - | 5 | Amp | - |
EXOSC8 | - | - | - | - | 3 | Gain | - |
EXT1 | - | - | - | - | 3 | Gain | - |
EYA1 | - | - | - | - | 3 | Gain | - |
F10 | - | - | - | - | 3 | Gain | - |
F7 | - | - | - | - | 3 | Gain | - |
FABP12 | - | - | - | - | 3 | Gain | - |
FABP4 | - | - | - | - | 3 | Gain | - |
FABP5 | - | - | - | - | 3 | Gain | - |
FABP9 | - | - | - | - | 3 | Gain | - |
FAM104A | p.Q90Pfs*6 | Frame_Shift_Ins | INS | 0.279 | 2 | - | - |
FAM107A | p.K115E | Missense | SNP | 0.513 | 2 | - | - |
FAM110B | - | - | - | - | 3 | Gain | - |
FAM124A | - | - | - | - | 3 | Gain | - |
FAM131C | - | - | - | - | 3 | Gain | - |
FAM135B | p.G195S | Missense | SNP | 0.431 | 3 | Gain | - |
FAM13A | p.I776N | Missense | SNP | 0.491 | 2 | - | - |
FAM155A | - | - | - | - | 3 | Gain | - |
FAM159A | p.A30T | Missense | SNP | 0.543 | ND | ND | - |
FAM172A | - | - | - | - | 3 | Gain | - |
FAM208B | p.E1382D | Missense | SNP | 0.394 | 2 | - | - |
FAM216B | - | - | - | - | 3 | Gain | - |
FAM21C | p.R474C | Missense | SNP | 0.268 | ND | ND | - |
FAM43A | p.G322V | Missense | SNP | 0.582 | 2 | - | - |
FAM43B | p.A198V | Missense | SNP | 1.000 | 2 | - | - |
FAM47B | p.C188F | Missense | SNP | 1.000 | ND | ND | - |
FAM49B | - | - | - | - | 3 | Gain | - |
FAM71B | p.D163N | Missense | SNP | 0.479 | 2 | - | - |
FAM83A | - | - | - | - | 3 | Gain | - |
FAM83H | - | - | - | - | 5 | Amp | - |
FAM84B | - | - | - | - | 3 | Gain | - |
FAM8A1 | p.R395* p.I400T | Nonsense Missense | SNP SNP | 0.205 0.167 | 2 | - | - |
FAM91A1 | - | - | - | - | 3 | Gain | - |
FAM92A | - | - | - | - | 3 | Gain | - |
FARP1 | p.Q165R | Missense | SNP | 0.305 | 3 | Gain | - |
FAT2 | p.R4255Q | Missense | SNP | 0.486 | 2 | - | - |
FAT3 | p.T4115M | Missense | SNP | 0.533 | 2 | - | - |
FBN1 | p.E487Gfs*4 | Frame_Shift_Ins | INS | 0.321 | 2 | - | - |
FBXL3 | - | - | - | - | 3 | Gain | - |
FBXL6 | - | - | - | - | 5 | Amp | - |
FBXL8 | p.L106M | Missense | SNP | 0.519 | 2 | - | - |
FBXO15 | p.S123Hfs*12 | Frame_Shift_Del | DEL | 0.408 | 2 | - | - |
FBXO2 | - | - | - | - | 3 | Gain | - |
FBXO32 | p.A141T | Missense | SNP | 0.425 | 3 | Gain | - |
FBXO43 | - | - | - | - | 3 | Gain | - |
FBXO44 | - | - | - | - | 3 | Gain | - |
FBXO6 | - | - | - | - | 3 | Gain | - |
FCRL5 | p.R60W | Missense | SNP | 0.508 | 2 | - | - |
FDCSP | - | - | - | - | 1 | Loss | - |
FER1L6 | - | - | - | - | 3 | Gain | - |
FERMT3 | p.R542C | Missense | SNP | 0.579 | 2 | - | - |
FEZF2 | p.A118Pfs*129 | Frame_Shift_Del | DEL | 0.383 | 2 | - | - |
FGD6 | p.H1287Y | Missense | SNP | 0.440 | 2 | - | - |
FGF14 | - | - | - | - | 3 | Gain | - |
FGF17 | p.R160Afs*77 | Frame_Shift_Del | DEL | 0.484 | 2 | - | - |
FGF22 | p.G148Afs*26 | Frame_Shift_Del | DEL | 0.381 | 2 | - | - |
FGF9 | - | - | - | - | 3 | Gain | - |
FGFR1 | - | - | - | - | 3 | Gain | - |
FHOD1 | p.R312H | Missense | SNP | 0.586 | 2 | - | - |
FKTN | p.F369Sfs*37 | Frame_Shift_Del | DEL | 0.565 | 2 | - | - |
FLG | - | - | - | - | 3 | Gain | - |
FLG2 | - | - | - | - | 3 | Gain | - |
FLT1 | - | - | - | - | 3 | Gain | - |
FLT3 | - | - | - | - | 3 | Gain | - |
FNDC3A | - | - | - | - | 3 | Gain | - |
FNDC3B | - | - | - | - | 3 | Gain | - |
FNTA | - | - | - | - | 3 | Gain | - |
FOS | p.K265Efs*6 | Frame_Shift_Ins | INS | 0.277 | 2 | - | - |
FOXH1 | - | - | - | - | 5 | Amp | - |
FOXO1 | - | - | - | - | 3 | Gain | - |
FREM2 | - | - | - | - | 3 | Gain | - |
FRY | - | - | - | - | 3 | Gain | - |
FSBP | - | - | - | - | 3 | Gain | - |
FSIP2 | p.L6802Cfs*3 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
FST | p.T251I | Missense | SNP | 0.511 | 2 | - | - |
FXR1 | - | - | - | - | 1 | Loss | - |
FYB1 | - | - | - | - | 1 | Loss | - |
FZD6 | - | - | - | - | 3 | Gain | - |
GAGE2A | p.M22V | Missense | SNP | 0.075 | ND | ND | - |
GAL3ST3 | p.A374G | Missense | SNP | 0.571 | 2 | - | - |
GALP | p.A39T | Missense | SNP | 0.415 | 2 | - | - |
GAS6 | p.R246H | Missense | SNP | 0.307 | 3 | Gain | - |
GATB | p.A254T | Missense | SNP | 0.442 | 2 | - | - |
GCSAML | - | - | - | - | 0 | Del | - |
GCSAML-AS1 | - | - | - | - | 0 | Del | - |
GDAP1 | - | - | - | - | 3 | Gain | - |
GDF6 | - | - | - | - | 3 | Gain | - |
GEM | - | - | - | - | 3 | Gain | - |
GFAP | p.R88C | Missense | SNP | 0.102 | 2 | - | - |
GFY | p.H242Pfs*42 | Frame_Shift_Ins | INS | 0.257 | 2 | - | - |
GGACT | - | - | - | - | 3 | Gain | - |
GGH | - | - | - | - | 3 | Gain | - |
GHSR | - | - | - | - | 3 | Gain | - |
GINS4 | - | - | - | - | 3 | Gain | - |
GJA3 | - | - | - | - | 3 | Gain | - |
GJB2 | - | - | - | - | 3 | Gain | - |
GJB6 | - | - | - | - | 3 | Gain | - |
GLI2 | p.D1517Y | Missense | SNP | 0.368 | 3 | Gain | - |
GLI3 | p.P1033Rfs*46 | Frame_Shift_Del | DEL | 0.498 | 2 | - | - |
GLI4 | - | - | - | - | 5 | Amp | - |
GLS2 | p.V221Efs*15 | Frame_Shift_Del | DEL | 0.389 | 2 | - | - |
GLYR1 | p.R381Afs*15 | Frame_Shift_Ins | INS | 0.271 | 2 | - | - |
GMIP | p.R228W | Missense | SNP | 0.580 | 2 | - | - |
GML | - | - | - | - | 5 | Amp | - |
GOLGA2 | p.E818del | In_Frame_Del | DEL | 0.369 | 2 | - | - |
GOLGA7 | - | - | - | - | 3 | Gain | - |
GOT1L1 | - | - | - | - | 3 | Gain | - |
GPAA1 | - | - | - | - | 5 | Amp | - |
GPALPP1 | - | - | - | - | 3 | Gain | - |
GPAT4 | - | - | - | - | 3 | Gain | - |
GPC1 | p.L498R | Missense | SNP | 0.492 | 2 | - | - |
GPC5 | - | - | - | - | 3 | Gain | - |
GPC6 | - | - | - | - | 3 | Gain | - |
GPIHBP1 | - | - | - | - | 5 | Amp | - |
GPR12 | - | - | - | - | 3 | Gain | - |
GPR149 | p.I582* p.V306I | Frame_Shift_Del Missense | DEL SNP | 0.465 0.283 | 2 | - | - |
GPR18 | - | - | - | - | 3 | Gain | - |
GPR180 | - | - | - | - | 3 | Gain | - |
GPR183 | - | - | - | - | 3 | Gain | - |
GPR20 | - | - | - | - | 5 | Amp | - |
GPR25 | p.A82V | Missense | SNP | 1.000 | 2 | - | - |
GPR26 | p.R115W | Missense | SNP | 0.420 | 2 | - | - |
GPR75 | p.C189Sfs*84 | Frame_Shift_Del | DEL | 0.480 | 2 | - | - |
GPT | - | - | - | - | 5 | Amp | - |
GRHL2 | - | - | - | - | 3 | Gain | - |
GRIN2D | p.A1021Pfs*497 | Frame_Shift_Del | DEL | 0.466 | 2 | - | - |
GRINA | - | - | - | - | 5 | Amp | - |
GRK1 | - | - | - | - | 3 | Gain | - |
GRTP1 | - | - | - | - | 3 | Gain | - |
GSDMC | - | - | - | - | 3 | Gain | - |
GSDMD | - | - | - | - | 5 | Amp | - |
GSX1 | - | - | - | - | 3 | Gain | - |
GTF2F2 | - | - | - | - | 3 | Gain | - |
GTF3A | - | - | - | - | 3 | Gain | - |
GTF3C2 | p.G395Dfs*29 | Frame_Shift_Del | DEL | 0.508 | 2 | - | - |
GTF3C5 | p.A3V | Missense | SNP | 0.530 | 2 | - | - |
GTPBP2 | p.A30Pfs*43 | Frame_Shift_Del | DEL | 0.433 | 2 | - | - |
GUCA1B | p.V146A | Missense | SNP | 0.453 | 2 | - | - |
GUCY2D | p.R588Q | Missense | SNP | 0.358 | 2 | - | - |
H3F3C | p.R18Afs*19 | Frame_Shift_Del | DEL | 0.543 | 2 | - | - |
HAS2 | - | - | - | - | 3 | Gain | - |
HDAC9 | p.A572V | Missense | SNP | 0.434 | 2 | - | - |
HECTD1 | p.R2515C | Missense | SNP | 0.398 | 2 | - | - |
HEMGN | p.P243H | Missense | SNP | 0.452 | 2 | - | - |
HERC1 | p.Q2683R | Missense | SNP | 0.339 | 2 | - | - |
HERC2 | p.T4213A | Missense | SNP | 0.564 | 2 | - | - |
HERPUD1 | p.K78Nfs*11 | Frame_Shift_Del | DEL | 0.278 | 2 | - | - |
HERPUD2 | p.V266A | Missense | SNP | 0.522 | 2 | - | - |
HEY1 | - | - | - | - | 3 | Gain | - |
HGH1 | - | - | - | - | 5 | Amp | - |
HGSNAT | - | - | - | - | 3 | Gain | - |
HHLA1 | - | - | - | - | 3 | Gain | - |
HLA-DRA | p.X28_splice | Splice_Site | SNP | 0.426 | 2 | - | - |
HMCN1 | p.K2494Tfs*8 | Frame_Shift_Del | DEL | 0.545 | 2 | - | - |
HMGB1 | - | - | - | - | 3 | Gain | - |
HNF1A | p.P291Qfs*51 | Frame_Shift_Del | DEL | 0.440 | 2 | - | - |
HNF4G | - | - | - | - | 3 | Gain | - |
HNRNPA1L2 | - | - | - | - | 3 | Gain | - |
HOOK3 | - | - | - | - | 3 | Gain | - |
HOXA13 | p.A202T | Missense | SNP | 0.500 | 2 | - | - |
HOXB7 | p.M65Afs*99 | Frame_Shift_Ins | INS | 0.271 | 2 | - | - |
HS6ST3 | - | - | - | - | 3 | Gain | - |
HSF1 | - | - | - | - | 5 | Amp | - |
HSPB8 | p.T74Hfs*53 | Frame_Shift_Ins | INS | 0.322 | 2 | - | - |
HSPH1 | - | - | - | - | 3 | Gain | - |
HTN1 | - | - | - | - | 1 | Loss | - |
HTN3 | - | - | - | - | 1 | Loss | - |
HTR2A | - | - | - | - | 3 | Gain | - |
HTRA4 | - | - | - | - | 3 | Gain | - |
HYAL1 | p.L300Pfs*3 | Frame_Shift_Ins | INS | 0.333 | 2 | - | - |
HYOU1 | p.E349* p.T96M | Frame_Shift_Ins Missense | INS SNP | 0.284 0.475 | 2 | - | - |
ICAM5 | p.G20Afs*34 | Frame_Shift_Del | DEL | 0.491 | 2 | - | - |
IDO1 | - | - | - | - | 3 | Gain | - |
IDO2 | - | - | - | - | 3 | Gain | - |
IFT88 | - | - | - | - | 3 | Gain | - |
IGF2BP1 | p.S381N | Missense | SNP | 0.574 | 2 | - | - |
IK | p.E94Afs*21 | Frame_Shift_Del | DEL | 0.472 | 2 | - | - |
IKBKB | - | - | - | - | 3 | Gain | - |
IL17D | - | - | - | - | 3 | Gain | - |
IL1R2 | p.T275M | Missense | SNP | 0.371 | 2 | - | - |
IL7 | - | - | - | - | 3 | Gain | - |
ILF3 | p.R657C | Missense | SNP | 0.476 | 2 | - | - |
IMPA1 | - | - | - | - | 3 | Gain | - |
IMPAD1 | - | - | - | - | 3 | Gain | - |
IMPG1 | p.M51Cfs*7 | Frame_Shift_Del | DEL | 0.262 | 2 | - | - |
INCENP | p.Q241H | Missense | SNP | 0.527 | 2 | - | - |
ING1 | - | - | - | - | 3 | Gain | - |
INHBB | - | - | - | - | 3 | Gain | - |
INPP5F | p.W211Gfs*5 p.N301Mfs*13 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.633 0.375 | 2 | - | - |
INPP5J | p.P693Sfs*56 | Frame_Shift_Ins | INS | 0.281 | 2 | - | - |
INTS6 | - | - | - | - | 3 | Gain | - |
INTS8 | p.K985Sfs*44 | Frame_Shift_Del | DEL | 0.320 | 3 | Gain | - |
IPO5 | - | - | - | - | 3 | Gain | - |
IQANK1 | - | - | - | - | 5 | Amp | - |
IRF2BPL | p.V482M | Missense | SNP | 0.396 | 2 | - | - |
IRS1 | p.R790C | Missense | SNP | 0.461 | 2 | - | - |
IRS2 | - | - | - | - | 3 | Gain | - |
IRX5 | p.R269Afs*98 | Frame_Shift_Del | DEL | 0.523 | 2 | - | - |
ITGA3 | p.P886Hfs*17 | Frame_Shift_Del | DEL | 0.470 | 2 | - | - |
ITGA6 | p.F227Lfs*3 | Frame_Shift_Del | DEL | 0.517 | 2 | - | - |
ITGB3 | p.M168V | Missense | SNP | 0.558 | 2 | - | - |
ITGB5 | p.E470V | Missense | SNP | 0.467 | 2 | - | - |
ITGBL1 | - | - | - | - | 3 | Gain | - |
ITM2B | - | - | - | - | 3 | Gain | - |
JAKMIP2 | p.R596Tfs*6 | Frame_Shift_Del | DEL | 0.229 | 2 | - | - |
JPH1 | - | - | - | - | 3 | Gain | - |
JPH3 | p.V553M | Missense | SNP | 0.394 | 2 | - | - |
JRK | - | - | - | - | 5 | Amp | - |
KANK3 | p.R741H | Missense | SNP | 0.489 | 2 | - | - |
KANSL1L | p.N311Mfs*63 p.C365Y | Frame_Shift_Del Missense | DEL SNP | 0.434 0.480 | 2 | - | - |
KAT6A | - | - | - | - | 3 | Gain | - |
KATNAL1 | - | - | - | - | 3 | Gain | - |
KBTBD13 | p.D234N | Missense | SNP | 0.547 | 2 | - | - |
KBTBD6 | p.R443Afs*8 | Frame_Shift_Ins | INS | 0.373 | 3 | Gain | - |
KBTBD7 | - | - | - | - | 3 | Gain | - |
KCNA4 | p.F221Lfs*21 | Frame_Shift_Del | DEL | 0.591 | 2 | - | - |
KCNA6 | p.V458A | Missense | SNP | 0.522 | 2 | - | - |
KCNB2 | - | - | - | - | 3 | Gain | - |
KCNC1 | p.K457Rfs*20 | Frame_Shift_Del | DEL | 0.341 | 2 | - | - |
KCNK9 | - | - | - | - | 3 | Gain | - |
KCNMA1 | p.K769Sfs*17 p.A138V | Frame_Shift_Del Missense | DEL SNP | 0.469 0.510 | 2 | - | - |
KCNN2 | p.L357P | Missense | SNP | 0.409 | 2 | - | - |
KCNQ3 | - | - | - | - | 3 | Gain | - |
KCNRG | - | - | - | - | 3 | Gain | - |
KCNS2 | - | - | - | - | 3 | Gain | - |
KCNU1 | - | - | - | - | 3 | Gain | - |
KCNV1 | - | - | - | - | 3 | Gain | - |
KCTD12 | - | - | - | - | 3 | Gain | - |
KCTD4 | - | - | - | - | 3 | Gain | - |
KDELC1 | - | - | - | - | 3 | Gain | - |
KHDRBS3 | - | - | - | - | 3 | Gain | - |
KIAA0408 | p.G623Dfs*4 | Frame_Shift_Del | DEL | 0.435 | 2 | - | - |
KIAA0825 | p.F767Lfs*27 | Frame_Shift_Del | DEL | 0.310 | 3 | Gain | - |
KIAA1211L | p.P522Rfs*182 | Frame_Shift_Del | DEL | 0.435 | 2 | - | - |
KIAA2013 | - | - | - | - | 3 | Gain | - |
KIF12 | - | - | - | - | 1 | Loss | - |
KIF2A | p.R23* | Nonsense | SNP | 0.619 | 2 | - | - |
KIFC2 | - | - | - | - | 5 | Amp | - |
KIR3DL3 | p.E17V | Missense | SNP | 0.494 | 2 | - | - |
KL | - | - | - | - | 3 | Gain | - |
KLF10 | - | - | - | - | 3 | Gain | - |
KLF12 | - | - | - | - | 3 | Gain | - |
KLF14 | p.R223C | Missense | SNP | 0.564 | 2 | - | - |
KLF5 | - | - | - | - | 3 | Gain | - |
KLHL1 | p.S43N | Missense | SNP | 0.299 | 3 | Gain | - |
KLHL14 | p.V232Wfs*30 | Frame_Shift_Del | DEL | 0.396 | 2 | - | - |
KLHL18 | p.R134G | Missense | SNP | 0.482 | 2 | - | - |
KLHL38 | - | - | - | - | 3 | Gain | - |
KLK7 | p.P134S | Missense | SNP | 0.434 | 2 | - | - |
KMT2A | p.S1107F | Missense | SNP | 0.481 | 2 | - | - |
KMT2E | p.P1716Hfs*156 | Frame_Shift_Del | DEL | 0.464 | 2 | - | - |
KPNA3 | - | - | - | - | 3 | Gain | - |
KRT18 | p.K81del | In_Frame_Del | DEL | 0.405 | 2 | - | - |
KRT9 | p.K184E | Missense | SNP | 0.448 | 2 | - | - |
KRTAP10-1 | - | - | - | - | 3 | Gain | - |
KRTAP10-10 | - | - | - | - | 3 | Gain | - |
KRTAP10-11 | - | - | - | - | 3 | Gain | - |
KRTAP10-12 | - | - | - | - | 3 | Gain | - |
KRTAP10-2 | - | - | - | - | 3 | Gain | - |
KRTAP10-3 | - | - | - | - | 3 | Gain | - |
KRTAP10-4 | - | - | - | - | 3 | Gain | - |
KRTAP10-5 | - | - | - | - | 3 | Gain | - |
KRTAP10-6 | - | - | - | - | 3 | Gain | - |
KRTAP10-7 | - | - | - | - | 3 | Gain | - |
KRTAP10-8 | - | - | - | - | 3 | Gain | - |
KRTAP10-9 | - | - | - | - | 3 | Gain | - |
KRTAP12-1 | - | - | - | - | 3 | Gain | - |
KRTAP12-2 | - | - | - | - | 3 | Gain | - |
KRTAP12-3 | - | - | - | - | 3 | Gain | - |
KRTAP12-4 | - | - | - | - | 3 | Gain | - |
KRTAP5-1 | - | - | - | - | 3 | Gain | - |
KRTAP5-2 | - | - | - | - | 3 | Gain | - |
KRTAP5-3 | - | - | - | - | 3 | Gain | - |
KRTAP5-4 | - | - | - | - | 3 | Gain | - |
KRTAP5-5 | - | - | - | - | 3 | Gain | - |
KRTAP5-6 | - | - | - | - | 3 | Gain | - |
LACC1 | - | - | - | - | 3 | Gain | - |
LACTB2 | - | - | - | - | 3 | Gain | - |
LAMA1 | p.M680Nfs*17 | Frame_Shift_Ins | INS | 0.323 | 2 | - | - |
LAMA3 | p.K3079R | Missense | SNP | 0.606 | 2 | - | - |
LAMA5 | p.A2433V | Missense | SNP | 0.509 | 2 | - | - |
LAMP1 | - | - | - | - | 3 | Gain | - |
LAPTM4B | p.W268R | Missense | SNP | 0.273 | 3 | Gain | - |
LATS2 | - | - | - | - | 3 | Gain | - |
LCP1 | - | - | - | - | 3 | Gain | - |
LDLRAP1 | p.S202Lfs*19 | Frame_Shift_Ins | INS | 0.294 | 2 | - | - |
LEFTY2 | p.R205M | Missense | SNP | 1.000 | 2 | - | - |
LEO1 | p.R93H | Missense | SNP | 0.543 | 2 | - | - |
LETM2 | - | - | - | - | 3 | Gain | - |
LGR6 | p.R21K | Missense | SNP | 0.529 | 2 | - | - |
LHFPL6 | - | - | - | - | 3 | Gain | - |
LIG4 | - | - | - | - | 3 | Gain | - |
LMF2 | p.V184M | Missense | SNP | 0.475 | 2 | - | - |
LMO7 | - | - | - | - | 3 | Gain | - |
LNX2 | - | - | - | - | 3 | Gain | - |
LOXL2 | p.R35C | Missense | SNP | 0.500 | 2 | - | - |
LPAR6 | - | - | - | - | 3 | Gain | - |
LRBA | p.N1675Tfs*4 | Frame_Shift_Del | DEL | 0.506 | 2 | - | - |
LRCH1 | - | - | - | - | 3 | Gain | - |
LRIG3 | p.T1099N | Missense | SNP | 0.441 | 2 | - | - |
LRP1 | p.T778Lfs*2 p.G2619R | Frame_Shift_Del Missense | DEL SNP | 0.485 0.530 | 3 | Gain | - |
LRP12 | - | - | - | - | 3 | Gain | - |
LRP1B | p.C4018Y | Missense | SNP | 0.464 | 2 | - | - |
LRP8 | p.G219S | Missense | SNP | 0.460 | 2 | - | - |
LRRC14 | - | - | - | - | 5 | Amp | - |
LRRC24 | - | - | - | - | 5 | Amp | - |
LRRC37A3 | p.T1626M | Missense | SNP | 0.485 | 2 | - | - |
LRRC3B | p.L186R | Missense | SNP | 0.494 | 2 | - | - |
LRRC6 | - | - | - | - | 3 | Gain | - |
LRRC63 | - | - | - | - | 3 | Gain | - |
LRRC69 | - | - | - | - | 3 | Gain | - |
LRRCC1 | - | - | - | - | 3 | Gain | - |
LRRTM4 | p.L111R | Missense | SNP | 0.446 | 2 | - | - |
LSM1 | - | - | - | - | 3 | Gain | - |
LTBP3 | p.E825D | Missense | SNP | 0.498 | 2 | - | - |
LY6D | - | - | - | - | 5 | Amp | - |
LY6E | - | - | - | - | 5 | Amp | - |
LY6H | - | - | - | - | 5 | Amp | - |
LY6K | - | - | - | - | 5 | Amp | - |
LY6L | - | - | - | - | 5 | Amp | - |
LY96 | - | - | - | - | 3 | Gain | - |
LYN | - | - | - | - | 3 | Gain | - |
LYNX1 | - | - | - | - | 5 | Amp | - |
LYNX1-SLURP2 | - | - | - | - | 5 | Amp | - |
LYPD2 | - | - | - | - | 5 | Amp | - |
LYPLA1 | - | - | - | - | 3 | Gain | - |
MAB21L1 | - | - | - | - | 3 | Gain | - |
MAD2L2 | - | - | - | - | 3 | Gain | - |
MAF1 | - | - | - | - | 5 | Amp | - |
MAFA | - | - | - | - | 5 | Amp | - |
MAL2 | - | - | - | - | 3 | Gain | - |
MAN2B2 | p.R501C | Missense | SNP | 0.434 | 2 | - | - |
MAP1S | p.K851Rfs*159 p.R194W | Frame_Shift_Del Missense | DEL SNP | 0.489 0.491 | 2 | - | - |
MAP3K11 | p.T680Rfs*267 | Frame_Shift_Del | DEL | 0.430 | 2 | - | - |
MAP3K9 | p.A1065V | Missense | SNP | 0.483 | 2 | - | - |
MAP4K2 | p.L98M | Missense | SNP | 0.466 | 2 | - | - |
MAPK15 | - | - | - | - | 5 | Amp | - |
MARC1 | p.V72Cfs*3 | Frame_Shift_Del | DEL | 0.517 | 2 | - | - |
MARCKS | p.A328Sfs*14 | Frame_Shift_Ins | INS | 0.266 | 2 | - | - |
MATK | p.P37Lfs*125 | Frame_Shift_Del | DEL | 0.240 | 2 | - | - |
MATN2 | - | - | - | - | 3 | Gain | - |
MATN4 | p.A555Rfs*5 | Frame_Shift_Del | DEL | 0.426 | 2 | - | - |
MB21D2 | p.N216Mfs*11 | Frame_Shift_Del | DEL | 0.434 | 2 | - | - |
MBNL2 | p.T92Lfs*27 | Frame_Shift_Del | DEL | 0.254 | 3 | Gain | - |
MCC | p.S24G | Missense | SNP | 0.315 | 2 | - | - |
MCF2L | - | - | - | - | 3 | Gain | - |
MCM2 | p.A551Rfs*42 | Frame_Shift_Del | DEL | 0.462 | 2 | - | - |
MCM4 | - | - | - | - | 3 | Gain | - |
MCMDC2 | - | - | - | - | 3 | Gain | - |
MCTP2 | p.E180Kfs*6 | Frame_Shift_Del | DEL | 0.516 | 2 | - | - |
MED12 | p.Q2076dup | In_Frame_Ins | INS | 0.395 | ND | ND | - |
MED14 | p.T1354M | Missense | SNP | 1.000 | ND | ND | - |
MED30 | - | - | - | - | 3 | Gain | - |
MED4 | - | - | - | - | 3 | Gain | - |
MED9 | p.Q117L | Missense | SNP | 0.476 | 2 | - | - |
MEDAG | - | - | - | - | 3 | Gain | - |
MEGF6 | - | - | - | - | 3 | Gain | - |
MEGF8 | p.G2143Afs*20 | Frame_Shift_Del | DEL | 0.387 | 2 | - | - |
METTL21C | - | - | - | - | 3 | Gain | - |
MFAP4 | p.G195V | Missense | SNP | 0.450 | 2 | - | - |
MFN2 | - | - | - | - | 3 | Gain | - |
MFSD3 | - | - | - | - | 5 | Amp | - |
MFSD7 | p.L320P p.A163T | Missense Missense | SNP SNP | 0.453 0.455 | ND | ND | - |
MICU2 | - | - | - | - | 3 | Gain | - |
MICU3 | p.A353Lfs*20 | Frame_Shift_Del | DEL | 0.652 | 2 | - | - |
MIER3 | p.R348Dfs*15 | Frame_Shift_Del | DEL | 0.509 | 2 | - | - |
MIIP | - | - | - | - | 3 | Gain | - |
MIPEP | - | - | - | - | 3 | Gain | - |
MLNR | - | - | - | - | 3 | Gain | - |
MMEL1 | p.L29Cfs*8 | Frame_Shift_Del | DEL | 0.457 | 2 | - | - |
MMP16 | p.R538Sfs*2 | Frame_Shift_Del | DEL | 0.185 | 3 | Gain | - |
MOB2 | - | - | - | - | 3 | Gain | - |
MOCOS | p.R823* | Nonsense | SNP | 0.391 | 2 | - | - |
MORC1 | p.S130Lfs*14 | Frame_Shift_Del | DEL | 0.280 | 2 | - | - |
MORN3 | p.G73S | Missense | SNP | 0.496 | 2 | - | - |
MOS | - | - | - | - | 3 | Gain | - |
MPHOSPH8 | - | - | - | - | 3 | Gain | - |
MPO | p.X402_splice | Splice_Site | SNP | 0.523 | 2 | - | - |
MPP6 | p.K307Efs*14 | Frame_Shift_Ins | INS | 0.294 | 2 | - | - |
MPPED2 | p.G9C | Missense | SNP | 0.449 | 2 | - | - |
MROH1 | - | - | - | - | 5 | Amp | - |
MROH5 | - | - | - | - | 5 | Amp | - |
MROH6 | - | - | - | - | 5 | Amp | - |
MROH8 | p.E409K | Missense | SNP | 0.398 | 2 | - | - |
MROH9 | p.A860D | Missense | SNP | 1.000 | 2 | - | - |
MRPL13 | - | - | - | - | 3 | Gain | - |
MRPL15 | - | - | - | - | 3 | Gain | - |
MRPL57 | - | - | - | - | 3 | Gain | - |
MRPS28 | - | - | - | - | 3 | Gain | - |
MRPS31 | - | - | - | - | 3 | Gain | - |
MSC | - | - | - | - | 3 | Gain | - |
MSH6 | p.R248Tfs*8 | Frame_Shift_Ins | INS | 0.242 | 2 | - | - |
MTBP | - | - | - | - | 3 | Gain | - |
MTCL1 | p.S201Afs*7 | Frame_Shift_Del | DEL | 0.471 | 2 | - | - |
MTDH | - | - | - | - | 3 | Gain | - |
MTERF3 | p.L119S | Missense | SNP | 0.422 | 3 | Gain | - |
MTFR1 | - | - | - | - | 3 | Gain | - |
MTHFR | - | - | - | - | 3 | Gain | - |
MTIF3 | - | - | - | - | 3 | Gain | - |
MTMR4 | p.R1044C | Missense | SNP | 0.442 | 2 | - | - |
MTMR6 | - | - | - | - | 3 | Gain | - |
MTMR7 | p.L474Vfs*2 | Frame_Shift_Del | DEL | 0.524 | 2 | - | - |
MTRF1 | - | - | - | - | 3 | Gain | - |
MTSS1 | - | - | - | - | 3 | Gain | - |
MTUS2 | - | - | - | - | 3 | Gain | - |
MUC12 | - | - | - | - | 3 | Gain | - |
MUC16 | p.G12892Vfs*18 p.P6257T | Frame_Shift_Del Missense | DEL SNP | 0.412 0.478 | 2 | - | - |
MUC17 | p.R3705C | Missense | SNP | 0.434 | 3 | Gain | - |
MUC3A | - | - | - | - | 3 | Gain | - |
MUC5B | p.A1649T | Missense | SNP | 0.399 | 2 | - | - |
MYBL1 | - | - | - | - | 3 | Gain | - |
MYBPC2 | p.V307I | Missense | SNP | 0.511 | 2 | - | - |
MYC | - | - | - | - | 3 | Gain | - |
MYCBP2 | - | - | - | - | 3 | Gain | - |
MYCN | p.P45Rfs*86 | Frame_Shift_Del | DEL | 0.408 | 2 | - | - |
MYH10 | p.G66V | Missense | SNP | 0.467 | 2 | - | - |
MYH11 | p.P1940Hfs*91 | Frame_Shift_Del | DEL | 0.437 | 2 | - | - |
MYH13 | p.G1524C | Missense | SNP | 0.485 | 2 | - | - |
MYH7B | p.V812A | Missense | SNP | 0.456 | 2 | - | - |
MYH8 | p.K209del | In_Frame_Del | DEL | 0.448 | 2 | - | - |
MYH9 | p.P522L | Missense | SNP | 0.428 | 2 | - | - |
MYLK | p.E406D | Missense | SNP | 0.395 | 2 | - | - |
MYO16 | - | - | - | - | 3 | Gain | - |
MYO18B | p.F984V p.R1747C | Missense Missense | SNP SNP | 0.530 0.449 | 2 | - | - |
MYO1G | p.P806Lfs*52 | Frame_Shift_Del | DEL | 0.449 | 2 | - | - |
MYO3A | p.Q174H | Missense | SNP | 0.451 | 2 | - | - |
MYO5B | p.R999C | Missense | SNP | 0.410 | 2 | - | - |
MYSM1 | p.W297L | Missense | SNP | 0.458 | 2 | - | - |
MZF1 | p.L632M | Missense | SNP | 0.475 | 2 | - | - |
MZT1 | - | - | - | - | 3 | Gain | - |
N4BP2L1 | - | - | - | - | 3 | Gain | - |
N4BP2L2 | - | - | - | - | 3 | Gain | - |
NAA16 | - | - | - | - | 3 | Gain | - |
NAA25 | p.N259Tfs*9 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
NALCN | - | - | - | - | 3 | Gain | - |
NAPRT | - | - | - | - | 5 | Amp | - |
NARF | p.R153H | Missense | SNP | 0.051 | 2 | - | - |
NAXD | - | - | - | - | 3 | Gain | - |
NBEA | - | - | - | - | 3 | Gain | - |
NBEAL2 | p.Q2666K | Missense | SNP | 0.385 | 2 | - | - |
NBN | p.R551Gfs*8 | Frame_Shift_Del | DEL | 0.200 | 3 | Gain | - |
NCALD | - | - | - | - | 3 | Gain | - |
NCEH1 | - | - | - | - | 3 | Gain | - |
NCLN | p.G242R | Missense | SNP | 0.497 | 2 | - | - |
NCOA2 | - | - | - | - | 3 | Gain | - |
NCOR2 | p.I976Sfs*87 | Frame_Shift_Del | DEL | 0.498 | 2 | - | - |
NDFIP2 | - | - | - | - | 3 | Gain | - |
NDRG1 | - | - | - | - | 3 | Gain | - |
NDST4 | p.T605Nfs*22 | Frame_Shift_Ins | INS | 0.238 | 2 | - | - |
NDUFAF6 | - | - | - | - | 3 | Gain | - |
NDUFB9 | - | - | - | - | 3 | Gain | - |
NECAB1 | - | - | - | - | 3 | Gain | - |
NEK3 | - | - | - | - | 3 | Gain | - |
NEK5 | - | - | - | - | 3 | Gain | - |
NEUROG2 | p.A244V | Missense | SNP | 0.511 | 2 | - | - |
NF1 | p.R2637* | Nonsense | SNP | 1.000 | 2 | - | - |
NFAT5 | p.Q257R | Missense | SNP | 0.387 | 2 | - | - |
NFRKB | p.V337Gfs*2 p.G540W | Frame_Shift_Ins Missense | INS SNP | 0.314 0.367 | 2 | - | - |
NHLRC3 | - | - | - | - | 3 | Gain | - |
NID2 | p.A158T | Missense | SNP | 0.573 | 2 | - | - |
NIFK | - | - | - | - | 3 | Gain | - |
NIPAL2 | - | - | - | - | 3 | Gain | - |
NKAIN3 | - | - | - | - | 3 | Gain | - |
NKD1 | p.R288Pfs*12 | Frame_Shift_Ins | INS | 0.275 | 2 | - | - |
NKX2-3 | p.A297V | Missense | SNP | 0.492 | 2 | - | - |
NKX2-4 | p.A291P | Missense | SNP | 0.417 | 2 | - | - |
NKX6-3 | - | - | - | - | 3 | Gain | - |
NOL4L | p.R239H | Missense | SNP | 0.063 | 2 | - | - |
NOTCH1 | p.S1541N | Missense | SNP | 0.069 | 2 | - | - |
NOTO | p.P95L | Missense | SNP | 0.447 | 2 | - | - |
NOV | - | - | - | - | 3 | Gain | - |
NPBWR1 | - | - | - | - | 3 | Gain | - |
NPEPPS | p.H718Y | Missense | SNP | 0.356 | 2 | - | - |
NPPA | - | - | - | - | 3 | Gain | - |
NPPB | - | - | - | - | 3 | Gain | - |
NR2F1 | - | - | - | - | 3 | Gain | - |
NR4A3 | p.H119del | In_Frame_Del | DEL | 0.342 | 2 | - | - |
NRBP2 | - | - | - | - | 5 | Amp | - |
NRG1 | p.K91Sfs*24 | Frame_Shift_Del | DEL | 0.280 | 2 | - | - |
NRXN1 | p.D979Y p.G834C | Missense Missense | SNP SNP | 0.200 0.533 | 2 | - | - |
NSD1 | p.V1301I | Missense | SNP | 0.474 | 2 | - | - |
NSD3 | - | - | - | - | 3 | Gain | - |
NSMAF | - | - | - | - | 3 | Gain | - |
NSMCE2 | p.A81V | Missense | SNP | 0.160 | 3 | Gain | - |
NUDCD1 | - | - | - | - | 3 | Gain | - |
NUDT13 | p.A43T | Missense | SNP | 0.424 | 2 | - | - |
NUDT15 | - | - | - | - | 3 | Gain | - |
NUFIP1 | - | - | - | - | 3 | Gain | - |
NUP58 | - | - | - | - | 3 | Gain | - |
NUTM2D | p.L738I | Missense | SNP | 1.000 | 2 | - | - |
NYAP2 | p.P416H | Missense | SNP | 0.391 | 2 | - | - |
OC90 | - | - | - | - | 3 | Gain | - |
ODAM | - | - | - | - | 1 | Loss | - |
ODF1 | - | - | - | - | 3 | Gain | - |
OLFM1 | p.S48I | Missense | SNP | 0.514 | 2 | - | - |
OLFM4 | - | - | - | - | 3 | Gain | - |
OLIG2 | p.R255C | Missense | SNP | 0.378 | 2 | - | - |
OLIG3 | p.R36S | Missense | SNP | 0.579 | 2 | - | - |
OPLAH | - | - | - | - | 5 | Amp | - |
OPRK1 | - | - | - | - | 3 | Gain | - |
OR11G2 | - | - | - | - | 1 | Loss | - |
OR11H12 | - | - | - | - | 1 | Loss | - |
OR11H2 | - | - | - | - | 1 | Loss | - |
OR11H4 | - | - | - | - | 1 | Loss | - |
OR11H6 | - | - | - | - | 1 | Loss | - |
OR13G1 | - | - | - | - | 0 | Del | - |
OR14J1 | p.L84I | Missense | SNP | 0.361 | 2 | - | - |
OR2A25 | p.M100V | Missense | SNP | 0.390 | 2 | - | - |
OR2B11 | - | - | - | - | 0 | Del | - |
OR2C3 | - | - | - | - | 0 | Del | - |
OR2G2 | - | - | - | - | 0 | Del | - |
OR2G3 | - | - | - | - | 0 | Del | - |
OR4K1 | p.L63P | Missense | SNP | 0.333 | 1 | Loss | - |
OR4K13 | - | - | - | - | 1 | Loss | - |
OR4K14 | - | - | - | - | 1 | Loss | - |
OR4K15 | - | - | - | - | 1 | Loss | - |
OR4K17 | - | - | - | - | 1 | Loss | - |
OR4K2 | - | - | - | - | 1 | Loss | - |
OR4K5 | - | - | - | - | 1 | Loss | - |
OR4L1 | - | - | - | - | 1 | Loss | - |
OR4M1 | - | - | - | - | 1 | Loss | - |
OR4N2 | - | - | - | - | 1 | Loss | - |
OR4N5 | - | - | - | - | 1 | Loss | - |
OR4Q3 | - | - | - | - | 1 | Loss | - |
OR4S1 | p.S215F | Missense | SNP | 0.444 | 2 | - | - |
OR52K1 | p.E23* | Nonsense | SNP | 0.326 | 2 | - | - |
OR5B3 | p.A306T | Missense | SNP | 0.426 | 2 | - | - |
OR5D18 | p.W198C | Missense | SNP | 0.482 | 2 | - | - |
OR5M9 | p.Q310R | Missense | SNP | 0.667 | 2 | - | - |
OR7C2 | p.C179Vfs*7 | Frame_Shift_Del | DEL | 0.380 | 2 | - | - |
OR8U1 | p.L27Sfs*14 | Frame_Shift_Del | DEL | 0.464 | 2 | - | - |
OSGIN2 | - | - | - | - | 3 | Gain | - |
OSR2 | - | - | - | - | 3 | Gain | - |
OTOG | p.A73V p.R2096W | Missense Missense | SNP SNP | 0.423 0.527 | 2 | - | - |
OTOP1 | p.K511N | Missense | SNP | 0.443 | 2 | - | - |
OTUD6B | - | - | - | - | 3 | Gain | - |
OXGR1 | - | - | - | - | 3 | Gain | - |
OXR1 | - | - | - | - | 3 | Gain | - |
P2RY13 | p.V235Yfs*81 | Frame_Shift_Del | DEL | 0.450 | 2 | - | - |
P4HTM | p.A236T | Missense | SNP | 0.495 | 2 | - | - |
PABPC1 | - | - | - | - | 3 | Gain | - |
PABPC3 | - | - | - | - | 3 | Gain | - |
PACRG | p.F113Lfs*7 p.A156S | Frame_Shift_Del Missense | DEL SNP | 0.293 0.286 | 2 | - | - |
PACSIN1 | p.R37H | Missense | SNP | 0.545 | 2 | - | - |
PAG1 | - | - | - | - | 3 | Gain | - |
PAIP2B | p.K122E p.K115N | Missense Missense | SNP SNP | 0.323 0.339 | 2 | - | - |
PALLD | p.A168Qfs*13 | Frame_Shift_Del | DEL | 0.476 | 2 | - | - |
PAN3 | - | - | - | - | 3 | Gain | - |
PAPPA2 | p.P72S | Missense | SNP | 0.547 | 2 | - | - |
PAQR5 | p.X129_splice | Splice_Site | SNP | 0.565 | 2 | - | - |
PAQR8 | p.A4T | Missense | SNP | 0.066 | 2 | - | - |
PARP1 | p.T799Lfs*41 | Frame_Shift_Del | DEL | 0.391 | 2 | - | - |
PARP10 | - | - | - | - | 5 | Amp | - |
PARP4 | - | - | - | - | 3 | Gain | - |
PAX1 | p.A86T | Missense | SNP | 0.447 | 2 | - | - |
PCCA | - | - | - | - | 3 | Gain | - |
PCDH17 | - | - | - | - | 3 | Gain | - |
PCDH20 | - | - | - | - | 3 | Gain | - |
PCDH8 | - | - | - | - | 3 | Gain | - |
PCDH9 | - | - | - | - | 3 | Gain | - |
PCDHA10 | - | - | - | - | 3 | Gain | - |
PCDHA11 | - | - | - | - | 3 | Gain | - |
PCDHA12 | - | - | - | - | 3 | Gain | - |
PCDHA13 | - | - | - | - | 3 | Gain | - |
PCDHA2 | - | - | - | - | 3 | Gain | - |
PCDHA3 | p.N199Ifs*2 | Frame_Shift_Del | DEL | 0.430 | 3 | Gain | - |
PCDHA4 | - | - | - | - | 3 | Gain | - |
PCDHA5 | p.G28V | Missense | SNP | 0.490 | 3 | Gain | - |
PCDHA6 | - | - | - | - | 3 | Gain | - |
PCDHA7 | - | - | - | - | 3 | Gain | - |
PCDHA8 | - | - | - | - | 3 | Gain | - |
PCDHA9 | - | - | - | - | 3 | Gain | - |
PCDHGA3 | p.L711M | Missense | SNP | 0.516 | 2 | - | - |
PCDHGB7 | p.A706V | Missense | SNP | 0.485 | 2 | - | - |
PCID2 | - | - | - | - | 3 | Gain | - |
PCMTD1 | - | - | - | - | 3 | Gain | - |
PCSK5 | p.A121T | Missense | SNP | 0.531 | 2 | - | - |
PDCD1 | p.T36Hfs*70 | Frame_Shift_Ins | INS | 0.294 | 2 | - | - |
PDE7A | p.S113R | Missense | SNP | 0.279 | 3 | Gain | - |
PDIA5 | p.P387Afs*44 | Frame_Shift_Ins | INS | 0.319 | 2 | - | - |
PDP1 | p.D169* | Frame_Shift_Ins | INS | 0.150 | 3 | Gain | - |
PDS5B | - | - | - | - | 3 | Gain | - |
PDX1 | - | - | - | - | 3 | Gain | - |
PDZD2 | p.V1845Rfs*6 | Frame_Shift_Ins | INS | 0.299 | 2 | - | - |
PEG3 | p.D141N | Missense | SNP | 0.498 | 2 | - | - |
PELI2 | p.W308R | Missense | SNP | 0.526 | 2 | - | - |
PENK | - | - | - | - | 3 | Gain | - |
PEX10 | p.Y66C | Missense | SNP | 1.000 | 2 | - | - |
PEX2 | - | - | - | - | 3 | Gain | - |
PEX5L | - | - | - | - | 1 | Loss | - |
PFAS | p.E786D | Missense | SNP | 0.487 | 2 | - | - |
PFKP | p.L79P | Missense | SNP | 0.529 | 2 | - | - |
PGM5 | p.K112R | Missense | SNP | 0.581 | 2 | - | - |
PHACTR4 | p.S64Vfs*12 | Frame_Shift_Del | DEL | 0.818 | 2 | - | - |
PHC1 | p.S131Y | Missense | SNP | 0.548 | 2 | - | - |
PHF11 | - | - | - | - | 3 | Gain | - |
PHF20L1 | p.K298Rfs*66 | Frame_Shift_Del | DEL | 0.258 | 3 | Gain | - |
PHKA2 | p.V801I | Missense | SNP | 1.000 | ND | ND | - |
PI15 | - | - | - | - | 3 | Gain | - |
PIBF1 | - | - | - | - | 3 | Gain | - |
PIGO | p.R731Vfs*17 | Frame_Shift_Del | DEL | 0.431 | 2 | - | - |
PIK3C2A | p.L273F | Missense | SNP | 0.465 | 2 | - | - |
PIK3CA | p.R88Q | Missense | SNP | 0.600 | 2 | - | - |
PIK3R6 | p.P378H | Missense | SNP | 0.471 | 2 | - | - |
PIKFYVE | p.X546_splice | Splice_Site | SNP | 0.556 | 2 | - | - |
PIP4P2 | - | - | - | - | 3 | Gain | - |
PKHD1L1 | - | - | - | - | 3 | Gain | - |
PKIA | - | - | - | - | 3 | Gain | - |
PLAG1 | - | - | - | - | 3 | Gain | - |
PLAT | - | - | - | - | 3 | Gain | - |
PLAU | p.A289V | Missense | SNP | 0.477 | 2 | - | - |
PLCB3 | p.R918Afs*95 | Frame_Shift_Del | DEL | 0.535 | 2 | - | - |
PLD1 | - | - | - | - | 3 | Gain | - |
PLEC | p.R2164* | Nonsense | SNP | 0.237 | 5 | Amp | - |
PLEKHA2 | - | - | - | - | 3 | Gain | - |
PLEKHF2 | - | - | - | - | 3 | Gain | - |
PLEKHG2 | p.P374T | Missense | SNP | 0.510 | 2 | - | - |
PLG | p.L657P | Missense | SNP | 0.455 | 2 | - | - |
PLK1 | p.F127L | Missense | SNP | 0.558 | 2 | - | - |
PLOD1 | - | - | - | - | 3 | Gain | - |
PLPBP | - | - | - | - | 3 | Gain | - |
PLPP5 | - | - | - | - | 3 | Gain | - |
PLPPR4 | p.V522M | Missense | SNP | 1.000 | 2 | - | - |
PMEPA1 | p.E156D | Missense | SNP | 0.440 | 2 | - | - |
PMP2 | - | - | - | - | 3 | Gain | - |
PNPLA8 | p.S780Qfs*12 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
PODN | p.L359R | Missense | SNP | 1.000 | 2 | - | - |
POFUT2 | p.L113I | Missense | SNP | 0.480 | 2 | - | - |
POLB | - | - | - | - | 3 | Gain | - |
POLM | p.S502R | Missense | SNP | 0.467 | 2 | - | - |
POLR1C | p.R125Q | Missense | SNP | 0.435 | 2 | - | - |
POLR1D | - | - | - | - | 3 | Gain | - |
POLR2E | p.L160del | In_Frame_Del | DEL | 0.477 | 2 | - | - |
POLR2K | - | - | - | - | 3 | Gain | - |
POMGNT1 | p.H225Y | Missense | SNP | 1.000 | 2 | - | - |
POMK | - | - | - | - | 3 | Gain | - |
POMP | - | - | - | - | 3 | Gain | - |
POP1 | - | - | - | - | 3 | Gain | - |
POSTN | - | - | - | - | 3 | Gain | - |
POTEG | - | - | - | - | 1 | Loss | - |
POTEM | - | - | - | - | 1 | Loss | - |
POU3F4 | p.R205I | Missense | SNP | 1.000 | ND | ND | - |
POU4F1 | - | - | - | - | 3 | Gain | - |
POU5F1B | - | - | - | - | 3 | Gain | - |
POU5F2 | - | - | - | - | 3 | Gain | - |
PPARGC1B | p.R410C p.R661* | Missense Nonsense | SNP SNP | 0.336 0.500 | 2 | - | - |
PPDPF | p.R55Afs*59 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
PPDPFL | - | - | - | - | 3 | Gain | - |
PPP1R16A | - | - | - | - | 5 | Amp | - |
PPP1R42 | - | - | - | - | 3 | Gain | - |
PPP1R9A | p.K495Nfs*3 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
PPP2CA | p.S261Qfs*11 | Frame_Shift_Ins | INS | 0.280 | 2 | - | - |
PPP3CB | p.K85Nfs*14 | Frame_Shift_Del | DEL | 0.326 | 2 | - | - |
PRAMEF4 | p.W6R | Missense | SNP | 1.000 | 2 | - | - |
PRDM11 | p.R506H | Missense | SNP | 0.468 | 2 | - | - |
PRDM14 | - | - | - | - | 3 | Gain | - |
PRDM15 | p.E613Nfs*35 | Frame_Shift_Del | DEL | 0.406 | 2 | - | - |
PREX2 | - | - | - | - | 3 | Gain | - |
PRKAA2 | p.F90Lfs*3 | Frame_Shift_Del | DEL | 0.274 | 2 | - | - |
PRKAR2B | p.R108* | Nonsense | SNP | 0.576 | 2 | - | - |
PRKCE | p.R458M | Missense | SNP | 0.544 | 2 | - | - |
PRKDC | - | - | - | - | 3 | Gain | - |
PRM3 | p.P69Q | Missense | SNP | 0.354 | 2 | - | - |
PROC | p.M406Wfs*15 | Frame_Shift_Del | DEL | 0.376 | 2 | - | - |
PROSER1 | - | - | - | - | 3 | Gain | - |
PROZ | - | - | - | - | 3 | Gain | - |
PRPF8 | p.G1992D | Missense | SNP | 0.575 | 2 | - | - |
PRR12 | p.P408Hfs*62 | Frame_Shift_Del | DEL | 0.394 | 2 | - | - |
PRR27 | - | - | - | - | 1 | Loss | - |
PRRC2B | p.E328Gfs*35 | Frame_Shift_Ins | INS | 0.382 | 2 | - | - |
PRRT1 | p.P82S | Missense | SNP | 0.514 | 2 | - | - |
PSCA | - | - | - | - | 5 | Amp | - |
PSKH2 | - | - | - | - | 3 | Gain | - |
PSPC1 | - | - | - | - | 3 | Gain | - |
PTCH1 | p.R1308Qfs*17 p.S1203Afs*52 | Frame_Shift_Ins Frame_Shift_Del | INS DEL | 0.339 0.422 | 2 | - | - |
PTDSS1 | - | - | - | - | 3 | Gain | - |
PTK2 | - | - | - | - | 5 | Amp | - |
PTP4A3 | - | - | - | - | 5 | Amp | - |
PTPN21 | p.R446H | Missense | SNP | 0.482 | 2 | - | - |
PTPRCAP | p.L46M | Missense | SNP | 0.443 | 2 | - | - |
PUF60 | - | - | - | - | 5 | Amp | - |
PXDNL | p.T596A | Missense | SNP | 0.296 | 3 | Gain | - |
PYCARD | p.D175V | Missense | SNP | 0.500 | 2 | - | - |
PYCR3 | - | - | - | - | 5 | Amp | - |
PYGO1 | p.N275Mfs*8 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
QPCTL | p.G144V | Missense | SNP | 0.513 | 2 | - | - |
RAB11FIP1 | - | - | - | - | 3 | Gain | - |
RAB20 | - | - | - | - | 3 | Gain | - |
RAB2A | - | - | - | - | 3 | Gain | - |
RAB6B | p.R84W | Missense | SNP | 0.483 | 2 | - | - |
RABL6 | p.X428_splice | Splice_Site | SNP | 0.492 | 2 | - | - |
RACK1 | p.S115del | In_Frame_Del | DEL | 0.429 | 2 | - | - |
RAD21 | - | - | - | - | 3 | Gain | - |
RAD23A | p.H210R | Missense | SNP | 0.489 | 2 | - | - |
RAD50 | p.K722Rfs*14 p.N934Kfs*10 | Frame_Shift_Del Frame_Shift_Ins | DEL INS | 0.464 0.333 | 2 | - | - |
RAD54B | - | - | - | - | 3 | Gain | - |
RALB | - | - | - | - | 3 | Gain | - |
RALYL | - | - | - | - | 3 | Gain | - |
RAP2A | - | - | - | - | 3 | Gain | - |
RAPH1 | p.P767H | Missense | SNP | 0.432 | 2 | - | - |
RARS2 | p.K352Sfs*10 | Frame_Shift_Del | DEL | 0.548 | 2 | - | - |
RASA3 | - | - | - | - | 3 | Gain | - |
RASAL3 | p.A771P | Missense | SNP | 0.439 | 2 | - | - |
RASL11A | - | - | - | - | 3 | Gain | - |
RB1 | - | - | - | - | 3 | Gain | - |
RB1CC1 | - | - | - | - | 3 | Gain | - |
RBM12B | - | - | - | - | 3 | Gain | - |
RBM15B | p.R822G | Missense | SNP | 0.565 | 2 | - | - |
RBM26 | - | - | - | - | 3 | Gain | - |
RBM33 | p.H613Tfs*37 | Frame_Shift_Del | DEL | 0.342 | 2 | - | - |
RBMXL3 | p.L1036Cfs*62 | Frame_Shift_Del | DEL | 0.958 | ND | ND | - |
RCBTB1 | - | - | - | - | 3 | Gain | - |
RCBTB2 | - | - | - | - | 3 | Gain | - |
RDH10 | - | - | - | - | 3 | Gain | - |
RECQL | p.V41Sfs*2 | Frame_Shift_Del | DEL | 0.382 | 2 | - | - |
RECQL4 | - | - | - | - | 5 | Amp | - |
RELCH | - | - | - | - | 1 | Loss | - |
RFC3 | - | - | - | - | 3 | Gain | - |
RFTN1 | p.Q537R | Missense | SNP | 0.412 | 2 | - | - |
RFXAP | - | - | - | - | 3 | Gain | - |
RGCC | - | - | - | - | 3 | Gain | - |
RGS20 | p.H151Ifs*3 | Frame_Shift_Del | DEL | 0.387 | 3 | Gain | - |
RGS22 | - | - | - | - | 3 | Gain | - |
RHO | p.I54Hfs*30 | Frame_Shift_Ins | INS | 0.359 | 2 | - | - |
RHOC | p.E64G | Missense | SNP | 0.469 | 2 | - | - |
RHOQ | p.R193Efs*2 | Frame_Shift_Del | DEL | 0.438 | 2 | - | - |
RHPN1 | - | - | - | - | 5 | Amp | - |
RIC8A | p.L126F | Missense | SNP | 0.467 | 2 | - | - |
RIDA | - | - | - | - | 3 | Gain | - |
RIMBP3 | p.A1006V | Missense | SNP | 0.142 | 2 | - | - |
RIMS2 | - | - | - | - | 3 | Gain | - |
RIPK2 | - | - | - | - | 3 | Gain | - |
RLN1 | p.L6F | Missense | SNP | 0.318 | 2 | - | - |
RMDN1 | - | - | - | - | 3 | Gain | - |
RN7SKP48 | - | - | - | - | ND | ND | RN7SKP71--RN7SKP48 |
RN7SKP62 | - | - | - | - | ND | ND | RN7SKP80--RN7SKP62 |
RN7SKP71 | - | - | - | - | ND | ND | RN7SKP71--RN7SKP48 |
RN7SKP80 | - | - | - | - | ND | ND | RN7SKP80--RN7SKP62 |
RNASEH2B | - | - | - | - | 3 | Gain | - |
RNF113B | - | - | - | - | 3 | Gain | - |
RNF139 | - | - | - | - | 3 | Gain | - |
RNF17 | - | - | - | - | 3 | Gain | - |
RNF170 | - | - | - | - | 3 | Gain | - |
RNF19A | - | - | - | - | 3 | Gain | - |
RNF219 | - | - | - | - | 3 | Gain | - |
RNF6 | - | - | - | - | 3 | Gain | - |
ROCK1 | p.K1307Mfs*11 | Frame_Shift_Del | DEL | 0.593 | 2 | - | - |
ROS1 | p.I414Lfs*14 | Frame_Shift_Del | DEL | 0.361 | 2 | - | - |
RP1 | - | - | - | - | 3 | Gain | - |
RP11-514P8.7 | p.R242Gfs*13 | Frame_Shift_Del | DEL | 0.244 | ND | ND | - |
RP5-862P8.2 | p.X518_splice | Splice_Site | SNP | 0.500 | ND | ND | - |
RPIA | p.X95_splice | Splice_Site | SNP | 0.442 | 2 | - | - |
RPL21 | - | - | - | - | 3 | Gain | - |
RPL22 | p.K15Rfs*5 | Frame_Shift_Del | DEL | 0.863 | 2 | - | - |
RPL30 | - | - | - | - | 3 | Gain | - |
RPL7 | - | - | - | - | 3 | Gain | - |
RPL8 | - | - | - | - | 5 | Amp | - |
RPS20 | - | - | - | - | 3 | Gain | - |
RRM2B | - | - | - | - | 3 | Gain | - |
RRS1 | - | - | - | - | 3 | Gain | - |
RSBN1 | p.V647I | Missense | SNP | 0.195 | 2 | - | - |
RSPO2 | - | - | - | - | 3 | Gain | - |
RUBCNL | - | - | - | - | 3 | Gain | - |
RUFY3 | p.K534Sfs*38 | Frame_Shift_Del | DEL | 0.364 | 2 | - | - |
RUNX1T1 | - | - | - | - | 3 | Gain | - |
RXFP2 | - | - | - | - | 3 | Gain | - |
RYR2 | p.W1101* | Nonsense | SNP | 1.000 | 2 | - | - |
SACS | p.T4117I | Missense | SNP | 0.356 | 3 | Gain | - |
SAFB2 | p.P839Lfs*16 | Frame_Shift_Del | DEL | 0.507 | 2 | - | - |
SAMD11 | p.A673V | Missense | SNP | 0.479 | 2 | - | - |
SAMD12 | - | - | - | - | 3 | Gain | - |
SAP18 | - | - | - | - | 3 | Gain | - |
SBNO1 | p.N1139Mfs*9 | Frame_Shift_Del | DEL | 0.268 | 2 | - | - |
SBSPON | - | - | - | - | 3 | Gain | - |
SCAF1 | p.T1181Hfs*10 | Frame_Shift_Ins | INS | 0.309 | 2 | - | - |
SCEL | - | - | - | - | 3 | Gain | - |
SCMH1 | p.A133V | Missense | SNP | 0.425 | 2 | - | - |
SCN7A | p.N899Kfs*39 | Frame_Shift_Ins | INS | 0.364 | 2 | - | - |
SCRIB | - | - | - | - | 5 | Amp | - |
SCRT1 | - | - | - | - | 5 | Amp | - |
SCX | - | - | - | - | 5 | Amp | - |
SDC2 | - | - | - | - | 3 | Gain | - |
SDCBP | - | - | - | - | 3 | Gain | - |
SDR16C5 | - | - | - | - | 3 | Gain | - |
SDR42E1 | p.R92Q | Missense | SNP | 0.505 | 2 | - | - |
SEC14L1 | p.V555L | Missense | SNP | 0.575 | 2 | - | - |
SEC16A | p.Y1041Ifs*423 p.G1764R | Frame_Shift_Del Missense | DEL SNP | 0.510 0.460 | 2 | - | - |
SEC61A2 | p.Y279H | Missense | SNP | 0.494 | 2 | - | - |
SEC63 | p.K535Nfs*28 | Frame_Shift_Del | DEL | 0.474 | 2 | - | - |
SEMA3E | p.K421Nfs*5 | Frame_Shift_Del | DEL | 0.603 | 2 | - | - |
SERP2 | - | - | - | - | 3 | Gain | - |
SERPINB10 | p.L82F | Missense | SNP | 0.625 | 2 | - | - |
SERPINE3 | - | - | - | - | 3 | Gain | - |
SERTM1 | - | - | - | - | 3 | Gain | - |
SETD1A | p.G708Vfs*95 p.V1092M | Frame_Shift_Del Missense | DEL SNP | 0.577 0.457 | 2 | - | - |
SETD5 | p.L905Tfs*3 | Frame_Shift_Del | DEL | 0.416 | 2 | - | - |
SETDB2 | - | - | - | - | 3 | Gain | - |
SEZ6L2 | p.A115Qfs*9 | Frame_Shift_Del | DEL | 0.549 | 2 | - | - |
SF1 | p.P51Rfs*9 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
SFRP1 | - | - | - | - | 3 | Gain | - |
SFRP5 | p.G9Afs*77 | Frame_Shift_Del | DEL | 0.481 | 2 | - | - |
SGCG | - | - | - | - | 3 | Gain | - |
SGK3 | - | - | - | - | 3 | Gain | - |
SH3TC1 | p.P73Lfs*12 | Frame_Shift_Del | DEL | 0.584 | 2 | - | - |
SHANK2 | p.L1138Cfs*30 | Frame_Shift_Del | DEL | 0.442 | 2 | - | - |
SHARPIN | - | - | - | - | 5 | Amp | - |
SHC3 | p.H281R | Missense | SNP | 0.417 | 2 | - | - |
SHISA2 | - | - | - | - | 3 | Gain | - |
SHISA8 | p.A149T | Missense | SNP | 0.501 | 2 | - | - |
SIAH3 | - | - | - | - | 3 | Gain | - |
SIGLEC1 | p.G651Vfs*13 | Frame_Shift_Del | DEL | 0.451 | 2 | - | - |
SIM2 | p.L37P | Missense | SNP | 0.578 | 2 | - | - |
SIN3A | p.D468* | Frame_Shift_Ins | INS | 0.286 | 2 | - | - |
SIPA1L3 | p.I780Sfs*21 | Frame_Shift_Del | DEL | 0.579 | 2 | - | - |
SIX3 | p.R201C | Missense | SNP | 0.215 | 2 | - | - |
SKA3 | - | - | - | - | 3 | Gain | - |
SLA | - | - | - | - | 3 | Gain | - |
SLAIN1 | - | - | - | - | 3 | Gain | - |
SLC10A2 | - | - | - | - | 3 | Gain | - |
SLC10A5 | - | - | - | - | 3 | Gain | - |
SLC12A4 | p.E684D | Missense | SNP | 0.518 | 2 | - | - |
SLC15A1 | p.N689Tfs*42 | Frame_Shift_Del | DEL | 0.250 | 3 | Gain | - |
SLC17A5 | p.Y117Mfs*17 | Frame_Shift_Del | DEL | 0.443 | 2 | - | - |
SLC17A7 | p.L206P | Missense | SNP | 0.444 | 2 | - | - |
SLC18A3 | p.Q491* | Nonsense | SNP | 0.437 | 2 | - | - |
SLC20A2 | - | - | - | - | 3 | Gain | - |
SLC25A15 | - | - | - | - | 3 | Gain | - |
SLC25A30 | - | - | - | - | 3 | Gain | - |
SLC25A32 | - | - | - | - | 3 | Gain | - |
SLC26A1 | p.R365H | Missense | SNP | 0.442 | 2 | - | - |
SLC26A7 | p.Q20Sfs*24 | Frame_Shift_Del | DEL | 0.222 | 3 | Gain | - |
SLC2A10 | p.E437K | Missense | SNP | 0.620 | 2 | - | - |
SLC2A2 | - | - | - | - | 3 | Gain | - |
SLC30A5 | p.S488F | Missense | SNP | 0.647 | 2 | - | - |
SLC30A8 | - | - | - | - | 3 | Gain | - |
SLC39A12 | p.A373T | Missense | SNP | 0.578 | 2 | - | - |
SLC39A4 | - | - | - | - | 5 | Amp | - |
SLC41A2 | p.S335N | Missense | SNP | 0.531 | 2 | - | - |
SLC45A4 | - | - | - | - | 5 | Amp | - |
SLC46A3 | - | - | - | - | 3 | Gain | - |
SLC52A2 | - | - | - | - | 5 | Amp | - |
SLC5A9 | p.S332L | Missense | SNP | 1.000 | 2 | - | - |
SLC6A20 | p.R78M | Missense | SNP | 0.413 | 2 | - | - |
SLC6A8 | p.P382S | Missense | SNP | 1.000 | ND | ND | - |
SLC7A1 | - | - | - | - | 3 | Gain | - |
SLC7A13 | - | - | - | - | 3 | Gain | - |
SLC9A9 | p.L30Cfs*7 | Frame_Shift_Del | DEL | 0.093 | 2 | - | - |
SLCO5A1 | - | - | - | - | 3 | Gain | - |
SLITRK1 | - | - | - | - | 3 | Gain | - |
SLITRK5 | - | - | - | - | 3 | Gain | - |
SLITRK6 | p.L370I | Missense | SNP | 0.775 | 3 | Gain | - |
SLURP1 | - | - | - | - | 5 | Amp | - |
SLURP2 | - | - | - | - | 5 | Amp | - |
SMAD9 | - | - | - | - | 3 | Gain | - |
SMARCAD1 | p.N347Kfs*4 p.S761T | Frame_Shift_Ins Missense | INS SNP | 0.214 0.500 | 2 | - | - |
SMARCAL1 | p.G233Efs*2 | Frame_Shift_Del | DEL | 0.515 | 2 | - | - |
SMC4 | p.K855Sfs*5 | Frame_Shift_Del | DEL | 0.450 | 2 | - | - |
SMCHD1 | p.K680Nfs*3 | Frame_Shift_Del | DEL | 0.574 | 2 | - | - |
SMIM19 | - | - | - | - | 3 | Gain | - |
SMIM2 | - | - | - | - | 3 | Gain | - |
SNAI2 | - | - | - | - | 3 | Gain | - |
SNAPC2 | p.A129V | Missense | SNP | 0.408 | 2 | - | - |
SNRPB | p.P231Lfs*? | Frame_Shift_Del | DEL | 0.459 | 2 | - | - |
SNTB1 | - | - | - | - | 3 | Gain | - |
SNTG1 | p.D184G | Missense | SNP | 0.228 | 3 | Gain | - |
SNX16 | - | - | - | - | 3 | Gain | - |
SNX25 | p.R829I | Missense | SNP | 0.500 | 2 | - | - |
SNX30 | p.L249S | Missense | SNP | 0.604 | 2 | - | - |
SNX31 | - | - | - | - | 3 | Gain | - |
SOAT2 | p.W394R | Missense | SNP | 0.376 | 2 | - | - |
SOCS5 | p.E85K | Missense | SNP | 0.323 | 2 | - | - |
SOHLH2 | p.P335T | Missense | SNP | 0.692 | 3 | Gain | - |
SORCS1 | p.A971T | Missense | SNP | 0.075 | 2 | - | - |
SOS2 | p.E839K | Missense | SNP | 0.679 | 2 | - | - |
SOX1 | - | - | - | - | 3 | Gain | - |
SOX11 | p.P323L | Missense | SNP | 0.400 | 2 | - | - |
SOX17 | p.A19V | Missense | SNP | 0.536 | 3 | Gain | - |
SOX2 | p.H293P | Missense | SNP | 0.484 | 1 | Loss | - |
SOX21 | - | - | - | - | 3 | Gain | - |
SOX4 | p.G181C | Missense | SNP | 0.535 | 2 | - | - |
SOX9 | p.S78_L81del | In_Frame_Del | DEL | 0.831 | 2 | - | - |
SP100 | p.E604K | Missense | SNP | 0.303 | 2 | - | - |
SP2 | p.V449M | Missense | SNP | 0.432 | 2 | - | - |
SP8 | p.V74M | Missense | SNP | 0.462 | 2 | - | - |
SPACA7 | - | - | - | - | 3 | Gain | - |
SPAG1 | - | - | - | - | 3 | Gain | - |
SPART | - | - | - | - | 3 | Gain | - |
SPATA13 | - | - | - | - | 3 | Gain | - |
SPATA31D1 | p.P220H | Missense | SNP | 0.509 | 2 | - | - |
SPATA5L1 | p.S688Ffs*4 | Frame_Shift_Ins | INS | 0.324 | 2 | - | - |
SPATC1 | p.P396Rfs*20 | Frame_Shift_Del | DEL | 0.222 | 5 | Amp | - |
SPEF2 | p.K886Rfs*8 | Frame_Shift_Del | DEL | 0.550 | 2 | - | - |
SPERT | - | - | - | - | 3 | Gain | - |
SPG11 | p.S164P | Missense | SNP | 0.465 | 2 | - | - |
SPIDR | - | - | - | - | 3 | Gain | - |
SPNS2 | p.A30Rfs*35 | Frame_Shift_Del | DEL | 0.562 | 2 | - | - |
SPRY2 | - | - | - | - | 3 | Gain | - |
SPRYD7 | - | - | - | - | 3 | Gain | - |
SQLE | - | - | - | - | 3 | Gain | - |
SRCIN1 | p.M16Cfs*44 | Frame_Shift_Del | DEL | 0.410 | 2 | - | - |
SREBF2 | p.G595S | Missense | SNP | 0.573 | 2 | - | - |
SRGAP3 | p.V850* | Frame_Shift_Del | DEL | 0.386 | 2 | - | - |
SRRD | p.G36R | Missense | SNP | 0.127 | 2 | - | - |
SRRT | p.R502Q | Missense | SNP | 0.585 | 2 | - | - |
SSH1 | p.L973Tfs*23 p.M1046V | Frame_Shift_Ins Missense | INS SNP | 0.323 0.452 | 2 | - | - |
SSH2 | p.G81Efs*41 p.D577G | Frame_Shift_Del Missense | DEL SNP | 0.486 0.462 | 2 | - | - |
SSMEM1 | p.L199I | Missense | SNP | 0.462 | 2 | - | - |
SSPO | p.G1669C | Missense | SNP | 0.578 | 2 | - | - |
SSTR4 | p.V100M | Missense | SNP | 0.527 | 2 | - | - |
ST18 | - | - | - | - | 3 | Gain | - |
ST3GAL1 | - | - | - | - | 3 | Gain | - |
ST8SIA6 | p.L267Ffs*38 | Frame_Shift_Del | DEL | 0.568 | 2 | - | - |
STAB1 | p.P978Lfs*57 | Frame_Shift_Del | DEL | 0.436 | 2 | - | - |
STAMBPL1 | p.K405Rfs*21 | Frame_Shift_Del | DEL | 0.561 | 2 | - | - |
STAR | - | - | - | - | 3 | Gain | - |
STARD13 | - | - | - | - | 3 | Gain | - |
STATH | - | - | - | - | 1 | Loss | - |
STAU2 | - | - | - | - | 3 | Gain | - |
STIM2 | p.G86* | Nonsense | SNP | 0.536 | 2 | - | - |
STK24 | - | - | - | - | 3 | Gain | - |
STK3 | - | - | - | - | 3 | Gain | - |
STMN2 | - | - | - | - | 3 | Gain | - |
STOML3 | - | - | - | - | 3 | Gain | - |
STRADA | p.R333Gfs*42 | Frame_Shift_Del | DEL | 0.446 | 2 | - | - |
STRAP | p.A149Lfs*26 | Frame_Shift_Del | DEL | 0.474 | 2 | - | - |
STRN4 | p.E733K | Missense | SNP | 0.474 | 2 | - | - |
SUCLA2 | - | - | - | - | 3 | Gain | - |
SUGT1 | - | - | - | - | 3 | Gain | - |
SULF1 | - | - | - | - | 3 | Gain | - |
SUPT20H | - | - | - | - | 3 | Gain | - |
SUPV3L1 | p.V228L | Missense | SNP | 0.483 | 2 | - | - |
SYBU | - | - | - | - | 3 | Gain | - |
SYNE1 | p.P3228H | Missense | SNP | 0.486 | 2 | - | - |
SYNGR4 | p.L155R | Missense | SNP | 0.605 | 2 | - | - |
T | p.P260H | Missense | SNP | 0.578 | ND | ND | - |
TACC1 | - | - | - | - | 3 | Gain | - |
TAF1C | p.P707Lfs*7 | Frame_Shift_Del | DEL | 0.502 | 2 | - | - |
TAF2 | - | - | - | - | 3 | Gain | - |
TATDN1 | - | - | - | - | 3 | Gain | - |
TBC1D25 | p.Q672* | Nonsense | SNP | 1.000 | ND | ND | - |
TBC1D31 | - | - | - | - | 3 | Gain | - |
TBC1D4 | - | - | - | - | 3 | Gain | - |
TBKBP1 | p.L588I | Missense | SNP | 0.462 | 2 | - | - |
TBR1 | p.R548H | Missense | SNP | 0.449 | 2 | - | - |
TBRG4 | p.R271W | Missense | SNP | 0.476 | 2 | - | - |
TBX1 | p.E87G | Missense | SNP | 0.477 | 2 | - | - |
TBX5 | p.D331N | Missense | SNP | 0.565 | 2 | - | - |
TCAF2 | p.I756Hfs*3 | Frame_Shift_Ins | INS | 0.292 | 2 | - | - |
TCEA1 | - | - | - | - | 3 | Gain | - |
TCERG1 | p.K957Rfs*17 | Frame_Shift_Del | DEL | 0.360 | 2 | - | - |
TCF20 | p.L1943Cfs*118 | Frame_Shift_Del | DEL | 0.483 | 2 | - | - |
TCF24 | - | - | - | - | 3 | Gain | - |
TCF4 | p.T86A | Missense | SNP | 0.510 | 2 | - | - |
TCIM | - | - | - | - | 3 | Gain | - |
TDG | p.K84Nfs*21 | Frame_Shift_Del | DEL | 0.192 | 2 | - | - |
TDRD3 | p.E110D | Missense | SNP | 0.299 | 3 | Gain | - |
TEAD2 | p.E3Nfs*66 | Frame_Shift_Del | DEL | 0.430 | 2 | - | - |
TENM4 | p.P180Rfs*21 | Frame_Shift_Del | DEL | 0.442 | 2 | - | - |
TERF1 | - | - | - | - | 3 | Gain | - |
TEX11 | p.A561Lfs*5 | Frame_Shift_Del | DEL | 1.000 | ND | ND | - |
TEX26 | - | - | - | - | 3 | Gain | - |
TEX29 | - | - | - | - | 3 | Gain | - |
TEX30 | - | - | - | - | 3 | Gain | - |
TFCP2L1 | - | - | - | - | 3 | Gain | - |
TFDP1 | - | - | - | - | 3 | Gain | - |
TG | p.D2514G | Missense | SNP | 0.250 | 3 | Gain | - |
TGDS | - | - | - | - | 3 | Gain | - |
TGS1 | - | - | - | - | 3 | Gain | - |
THAP1 | - | - | - | - | 3 | Gain | - |
THAP4 | p.E2K | Missense | SNP | 0.429 | 2 | - | - |
THEM6 | - | - | - | - | 5 | Amp | - |
THSD1 | - | - | - | - | 3 | Gain | - |
TIGD5 | - | - | - | - | 5 | Amp | - |
TIPARP | p.D326G | Missense | SNP | 0.553 | 2 | - | - |
TJAP1 | p.S246L | Missense | SNP | 0.397 | 2 | - | - |
TLE3 | p.A447V | Missense | SNP | 0.444 | 2 | - | - |
TM2D2 | - | - | - | - | 3 | Gain | - |
TM9SF2 | - | - | - | - | 3 | Gain | - |
TM9SF3 | p.L346M | Missense | SNP | 0.597 | 2 | - | - |
TMCO3 | - | - | - | - | 3 | Gain | - |
TMEM117 | p.S485* | Nonsense | SNP | 0.397 | 2 | - | - |
TMEM131 | p.A1276V | Missense | SNP | 0.479 | 2 | - | - |
TMEM185B | - | - | - | - | 3 | Gain | - |
TMEM192 | p.G5Afs*46 | Frame_Shift_Del | DEL | 0.463 | 2 | - | - |
TMEM210 | p.P142Rfs*21 | Frame_Shift_Del | DEL | 0.388 | 2 | - | - |
TMEM212 | - | - | - | - | 3 | Gain | - |
TMEM249 | - | - | - | - | 5 | Amp | - |
TMEM255B | - | - | - | - | 3 | Gain | - |
TMEM38A | p.S267I | Missense | SNP | 0.433 | 2 | - | - |
TMEM64 | - | - | - | - | 3 | Gain | - |
TMEM65 | - | - | - | - | 3 | Gain | - |
TMEM67 | p.V596M | Missense | SNP | 0.286 | 3 | Gain | - |
TMEM68 | - | - | - | - | 3 | Gain | - |
TMEM70 | - | - | - | - | 3 | Gain | - |
TMEM71 | - | - | - | - | 3 | Gain | - |
TMEM74 | - | - | - | - | 3 | Gain | - |
TMTC4 | - | - | - | - | 3 | Gain | - |
TNFRSF11B | - | - | - | - | 3 | Gain | - |
TNFRSF19 | - | - | - | - | 3 | Gain | - |
TNFRSF1A | p.A446T | Missense | SNP | 0.063 | 2 | - | - |
TNFRSF1B | - | - | - | - | 3 | Gain | - |
TNFRSF8 | - | - | - | - | 3 | Gain | - |
TNFSF10 | - | - | - | - | 3 | Gain | - |
TNFSF11 | - | - | - | - | 3 | Gain | - |
TNFSF13B | - | - | - | - | 3 | Gain | - |
TNFSF14 | p.P111A | Missense | SNP | 0.530 | 2 | - | - |
TNIK | - | - | - | - | 3 | Gain | - |
TNN | p.D196G | Missense | SNP | 0.507 | 2 | - | - |
TNS1 | p.S971P | Missense | SNP | 0.480 | 2 | - | - |
TNXB | p.I716V | Missense | SNP | 0.495 | 2 | - | - |
TOB1 | p.L229Vfs*7 | Frame_Shift_Del | DEL | 0.465 | 2 | - | - |
TOLLIP | - | - | - | - | 3 | Gain | - |
TONSL | - | - | - | - | 5 | Amp | - |
TOP1MT | - | - | - | - | 5 | Amp | - |
TOX | - | - | - | - | 3 | Gain | - |
TP53 | p.R273C p.R267W | Missense Missense | SNP SNP | 0.467 0.500 | 2 | - | - |
TP53INP1 | - | - | - | - | 3 | Gain | - |
TP53TG5 | p.R224G | Missense | SNP | 0.533 | 2 | - | - |
TP73 | - | - | - | - | 3 | Gain | - |
TPCN1 | p.R277H | Missense | SNP | 0.516 | 2 | - | - |
TPD52 | - | - | - | - | 3 | Gain | - |
TPP2 | - | - | - | - | 3 | Gain | - |
TPRG1L | - | - | - | - | 3 | Gain | - |
TPT1 | - | - | - | - | 3 | Gain | - |
TPTE2 | - | - | - | - | 3 | Gain | - |
TRAM1 | - | - | - | - | 3 | Gain | - |
TRANK1 | p.R70H | Missense | SNP | 0.417 | 2 | - | - |
TRAPPC9 | p.A231D | Missense | SNP | 0.192 | 3 | Gain | - |
TRHR | - | - | - | - | 3 | Gain | - |
TRIB1 | - | - | - | - | 3 | Gain | - |
TRIM13 | - | - | - | - | 3 | Gain | - |
TRIM27 | p.P348H | Missense | SNP | 0.538 | 2 | - | - |
TRIM33 | p.V127M | Missense | SNP | 1.000 | 2 | - | - |
TRIM55 | - | - | - | - | 3 | Gain | - |
TRIO | p.S2308G p.A2381V | Missense Missense | SNP SNP | 0.354 0.551 | 2 | - | - |
TRIP12 | p.Q420Pfs*7 p.Y1532* | Frame_Shift_Ins Nonsense | INS SNP | 0.355 0.345 | 2 | - | - |
TRIQK | - | - | - | - | 3 | Gain | - |
TRMT12 | - | - | - | - | 3 | Gain | - |
TRPA1 | p.T598M p.M257I | Missense Missense | SNP SNP | 0.471 0.221 | 3 | Gain | - |
TRPC4 | - | - | - | - | 3 | Gain | - |
TRPS1 | p.N1206Mfs*5 | Frame_Shift_Del | DEL | 0.283 | 3 | Gain | - |
TSC22D1 | - | - | - | - | 3 | Gain | - |
TSEN34 | p.E232D | Missense | SNP | 0.500 | 2 | - | - |
TSN | - | - | - | - | 3 | Gain | - |
TSNARE1 | - | - | - | - | 5 | Amp | - |
TSPYL5 | - | - | - | - | 3 | Gain | - |
TSTA3 | - | - | - | - | 5 | Amp | - |
TTC14 | - | - | - | - | 1 | Loss | - |
TTC5 | - | - | - | - | 1 | Loss | - |
TTLL12 | p.H639Q | Missense | SNP | 0.505 | 2 | - | - |
TTN | p.I18032T | Missense | SNP | 0.367 | 2 | - | - |
TTPA | - | - | - | - | 3 | Gain | - |
TUBA3C | p.D322Mfs*23 | Frame_Shift_Del | DEL | 0.314 | 3 | Gain | - |
TUBB4B | p.T399M | Missense | SNP | 0.476 | 2 | - | - |
TUBGCP3 | - | - | - | - | 3 | Gain | - |
TXNRD2 | p.S160N | Missense | SNP | 0.400 | 2 | - | - |
U2SURP | p.K866Nfs*10 | Frame_Shift_Del | DEL | 0.667 | 2 | - | - |
UBAC2 | - | - | - | - | 3 | Gain | - |
UBE2L5 | - | - | - | - | 3 | Gain | - |
UBE2V2 | - | - | - | - | 3 | Gain | - |
UBE2W | - | - | - | - | 3 | Gain | - |
UBIAD1 | - | - | - | - | 3 | Gain | - |
UBL3 | - | - | - | - | 3 | Gain | - |
UBR1 | p.E1135* | Nonsense | SNP | 0.449 | 2 | - | - |
UBR3 | p.V1169Sfs*85 | Frame_Shift_Del | DEL | 0.338 | 2 | - | - |
UBR4 | p.K1708R | Missense | SNP | 0.486 | 2 | - | - |
UBR5 | - | - | - | - | 3 | Gain | - |
UBXN2B | - | - | - | - | 3 | Gain | - |
UCHL3 | - | - | - | - | 3 | Gain | - |
UFM1 | - | - | - | - | 3 | Gain | - |
UGGT2 | p.L1467P | Missense | SNP | 0.455 | 3 | Gain | - |
UGT2B7 | p.C156Vfs*46 | Frame_Shift_Del | DEL | 0.481 | 2 | - | - |
UHRF1BP1L | p.P364T | Missense | SNP | 0.471 | 2 | - | - |
ULK1 | p.L78M | Missense | SNP | 0.593 | 2 | - | - |
UNC5D | - | - | - | - | 3 | Gain | - |
UPF3A | - | - | - | - | 3 | Gain | - |
UQCRB | p.K19Nfs*14 | Frame_Shift_Del | DEL | 0.262 | 3 | Gain | - |
URAD | - | - | - | - | 3 | Gain | - |
USF3 | p.T992I | Missense | SNP | 0.357 | 2 | - | - |
USH1G | p.E142K | Missense | SNP | 0.462 | 2 | - | - |
USH2A | p.T2457I | Missense | SNP | 0.408 | 2 | - | - |
USP12 | - | - | - | - | 3 | Gain | - |
USP17L12 | - | - | - | - | 4 | Gain | - |
USP17L13 | - | - | - | - | 4 | Gain | - |
USP17L15 | - | - | - | - | 4 | Gain | - |
USP17L17 | - | - | - | - | 4 | Gain | - |
USP17L18 | - | - | - | - | 4 | Gain | - |
USP17L19 | - | - | - | - | 4 | Gain | - |
USP17L20 | - | - | - | - | 4 | Gain | - |
USP17L21 | - | - | - | - | 4 | Gain | - |
USP17L22 | - | - | - | - | 4 | Gain | - |
USP17L23 | - | - | - | - | 4 | Gain | - |
USP17L24 | - | - | - | - | 4 | Gain | - |
USP17L25 | - | - | - | - | 4 | Gain | - |
USP17L26 | - | - | - | - | 4 | Gain | - |
USP17L27 | - | - | - | - | 4 | Gain | - |
USP17L28 | - | - | - | - | 4 | Gain | - |
USP17L29 | - | - | - | - | 4 | Gain | - |
USP17L30 | - | - | - | - | 4 | Gain | - |
USP17L5 | - | - | - | - | 4 | Gain | - |
USPL1 | - | - | - | - | 3 | Gain | - |
UTP14C | p.G600W | Missense | SNP | 0.192 | 3 | Gain | - |
UTP23 | - | - | - | - | 3 | Gain | - |
UTRN | p.R2714Q | Missense | SNP | 0.076 | 2 | - | - |
VAPA | p.V97I | Missense | SNP | 0.547 | 2 | - | - |
VCPIP1 | p.K632E | Missense | SNP | 0.183 | 3 | Gain | - |
VDAC3 | - | - | - | - | 3 | Gain | - |
VIL1 | p.R620Gfs*33 | Frame_Shift_Del | DEL | 0.497 | 2 | - | - |
VIRMA | - | - | - | - | 3 | Gain | - |
VN1R2 | - | - | - | - | 3 | Gain | - |
VN1R4 | - | - | - | - | 3 | Gain | - |
VPS13B | - | - | - | - | 3 | Gain | - |
VPS13D | - | - | - | - | 3 | Gain | - |
VPS28 | - | - | - | - | 5 | Amp | - |
VPS36 | - | - | - | - | 3 | Gain | - |
VPS37D | p.Q26* | Nonsense | SNP | 0.465 | 2 | - | - |
VRK2 | p.V260A | Missense | SNP | 0.352 | 2 | - | - |
VWA8 | - | - | - | - | 3 | Gain | - |
VXN | - | - | - | - | 3 | Gain | - |
WASF3 | - | - | - | - | 3 | Gain | - |
WASHC5 | - | - | - | - | 3 | Gain | - |
WBP4 | - | - | - | - | 3 | Gain | - |
WBSCR22 | p.E235G | Missense | SNP | 0.356 | ND | ND | - |
WDFY2 | - | - | - | - | 3 | Gain | - |
WDFY3 | p.A219T | Missense | SNP | 0.575 | 2 | - | - |
WDR47 | p.R81Gfs*7 | Frame_Shift_Del | DEL | 0.364 | 2 | - | - |
WDR55 | p.K341Rfs*8 | Frame_Shift_Del | DEL | 0.507 | 2 | - | - |
WDR59 | p.R485C | Missense | SNP | 0.475 | 2 | - | - |
WDR64 | p.R239I | Missense | SNP | 1.000 | 2 | - | - |
WDR7 | p.K663N | Missense | SNP | 0.431 | 2 | - | - |
WDR90 | p.R218S | Missense | SNP | 0.455 | 2 | - | - |
WDYHV1 | - | - | - | - | 3 | Gain | - |
WISP1 | - | - | - | - | 3 | Gain | - |
WNK4 | p.V608Cfs*53 | Frame_Shift_Del | DEL | 0.442 | 2 | - | - |
WNT1 | p.G169Afs*30 | Frame_Shift_Del | DEL | 0.446 | 2 | - | - |
WRAP73 | - | - | - | - | 3 | Gain | - |
WWP1 | - | - | - | - | 3 | Gain | - |
XKR4 | - | - | - | - | 3 | Gain | - |
XKR9 | - | - | - | - | 3 | Gain | - |
XPO4 | - | - | - | - | 3 | Gain | - |
XPOT | p.F126Lfs*6 | Frame_Shift_Del | DEL | 0.957 | 2 | - | - |
YEATS2 | p.T982M | Missense | SNP | 0.513 | 2 | - | - |
YIPF3 | p.G302W | Missense | SNP | 0.429 | 2 | - | - |
YTHDC2 | p.E1302K | Missense | SNP | 0.565 | 2 | - | - |
YTHDF3 | - | - | - | - | 3 | Gain | - |
YWHAZ | - | - | - | - | 3 | Gain | - |
ZAR1L | - | - | - | - | 3 | Gain | - |
ZBBX | p.K325Nfs*55 | Frame_Shift_Del | DEL | 0.300 | 2 | - | - |
ZBTB10 | - | - | - | - | 3 | Gain | - |
ZBTB26 | p.N380Kfs*4 | Frame_Shift_Ins | INS | 0.266 | 2 | - | - |
ZBTB4 | p.A5Cfs*18 | Frame_Shift_Ins | INS | 0.270 | 2 | - | - |
ZBTB7A | p.A332Pfs*22 | Frame_Shift_Del | DEL | 0.501 | 2 | - | - |
ZC2HC1A | - | - | - | - | 3 | Gain | - |
ZC2HC1C | p.E217* | Nonsense | SNP | 0.489 | 2 | - | - |
ZC3H13 | - | - | - | - | 3 | Gain | - |
ZC3H3 | - | - | - | - | 5 | Amp | - |
ZC3H7A | p.K783Nfs*23 | Frame_Shift_Del | DEL | 0.385 | 2 | - | - |
ZDHHC16 | p.W287* | Nonsense | SNP | 0.456 | 2 | - | - |
ZDHHC20 | - | - | - | - | 3 | Gain | - |
ZFAND1 | - | - | - | - | 3 | Gain | - |
ZFAT | - | - | - | - | 3 | Gain | - |
ZFHX4 | p.K340Nfs*15 | Frame_Shift_Del | DEL | 0.211 | 3 | Gain | - |
ZFP41 | - | - | - | - | 5 | Amp | - |
ZFPM2 | - | - | - | - | 3 | Gain | - |
ZHX1 | - | - | - | - | 3 | Gain | - |
ZHX1-C8orf76 | - | - | - | - | 3 | Gain | - |
ZHX2 | - | - | - | - | 3 | Gain | - |
ZIC2 | - | - | - | - | 3 | Gain | - |
ZIC4 | p.E289D | Missense | SNP | 0.449 | 2 | - | - |
ZIC5 | - | - | - | - | 3 | Gain | - |
ZMAT4 | - | - | - | - | 3 | Gain | - |
ZMYM2 | - | - | - | - | 3 | Gain | - |
ZMYM5 | - | - | - | - | 3 | Gain | - |
ZMYND11 | p.*568R | Frame_Shift_Del | DEL | 0.552 | 2 | - | - |
ZMYND8 | p.K655Sfs*14 | Frame_Shift_Del | DEL | 0.449 | 2 | - | - |
ZNF100 | - | - | - | - | 3 | Gain | - |
ZNF106 | p.S482Pfs*33 | Frame_Shift_Del | DEL | 0.476 | 2 | - | - |
ZNF154 | p.Y133* | Nonsense | SNP | 0.497 | 2 | - | - |
ZNF16 | - | - | - | - | 5 | Amp | - |
ZNF160 | - | - | - | - | 3 | Gain | - |
ZNF208 | - | - | - | - | 3 | Gain | - |
ZNF217 | p.N55Kfs*31 | Frame_Shift_Del | DEL | 0.406 | 2 | - | - |
ZNF235 | p.K317Nfs*154 | Frame_Shift_Del | DEL | 0.441 | 2 | - | - |
ZNF250 | - | - | - | - | 5 | Amp | - |
ZNF251 | - | - | - | - | 5 | Amp | - |
ZNF254 | - | - | - | - | 3 | Gain | - |
ZNF257 | - | - | - | - | 3 | Gain | - |
ZNF28 | - | - | - | - | 3 | Gain | - |
ZNF320 | - | - | - | - | 3 | Gain | - |
ZNF330 | p.K5Rfs*18 | Frame_Shift_Del | DEL | 0.393 | 2 | - | - |
ZNF34 | - | - | - | - | 5 | Amp | - |
ZNF347 | - | - | - | - | 3 | Gain | - |
ZNF384 | p.K197del | In_Frame_Del | DEL | 0.487 | 2 | - | - |
ZNF415 | - | - | - | - | 3 | Gain | - |
ZNF423 | p.R920H | Missense | SNP | 0.449 | 2 | - | - |
ZNF429 | - | - | - | - | 3 | Gain | - |
ZNF43 | - | - | - | - | 3 | Gain | - |
ZNF431 | - | - | - | - | 3 | Gain | - |
ZNF45 | p.K442Nfs*98 | Frame_Shift_Del | DEL | 0.358 | 2 | - | - |
ZNF468 | - | - | - | - | 3 | Gain | - |
ZNF48 | p.R249Dfs*43 | Frame_Shift_Del | DEL | 0.493 | 2 | - | - |
ZNF492 | - | - | - | - | 3 | Gain | - |
ZNF493 | - | - | - | - | 3 | Gain | - |
ZNF517 | - | - | - | - | 5 | Amp | - |
ZNF541 | p.P231Rfs*49 | Frame_Shift_Del | DEL | 0.413 | 2 | - | - |
ZNF572 | - | - | - | - | 3 | Gain | - |
ZNF578 | - | - | - | - | 3 | Gain | - |
ZNF600 | - | - | - | - | 3 | Gain | - |
ZNF609 | p.K734Rfs*12 | Frame_Shift_Del | DEL | 0.491 | 2 | - | - |
ZNF611 | - | - | - | - | 3 | Gain | - |
ZNF623 | - | - | - | - | 5 | Amp | - |
ZNF628 | p.P239T | Missense | SNP | 0.502 | 2 | - | - |
ZNF665 | - | - | - | - | 3 | Gain | - |
ZNF675 | - | - | - | - | 3 | Gain | - |
ZNF676 | - | - | - | - | 3 | Gain | - |
ZNF677 | - | - | - | - | 3 | Gain | - |
ZNF681 | - | - | - | - | 3 | Gain | - |
ZNF696 | - | - | - | - | 5 | Amp | - |
ZNF697 | p.R457C | Missense | SNP | 0.508 | 2 | - | - |
ZNF7 | - | - | - | - | 5 | Amp | - |
ZNF701 | - | - | - | - | 3 | Gain | - |
ZNF703 | - | - | - | - | 3 | Gain | - |
ZNF704 | - | - | - | - | 3 | Gain | - |
ZNF706 | - | - | - | - | 3 | Gain | - |
ZNF707 | - | - | - | - | 5 | Amp | - |
ZNF708 | - | - | - | - | 3 | Gain | - |
ZNF714 | - | - | - | - | 3 | Gain | - |
ZNF723 | - | - | - | - | 3 | Gain | - |
ZNF724 | - | - | - | - | 3 | Gain | - |
ZNF726 | - | - | - | - | 3 | Gain | - |
ZNF728 | p.A432S | Missense | SNP | 0.491 | 3 | Gain | - |
ZNF729 | - | - | - | - | 3 | Gain | - |
ZNF730 | - | - | - | - | 3 | Gain | - |
ZNF732 | p.S116R | Missense | SNP | 0.395 | 2 | - | - |
ZNF738 | - | - | - | - | 3 | Gain | - |
ZNF761 | - | - | - | - | 3 | Gain | - |
ZNF765 | - | - | - | - | 3 | Gain | - |
ZNF784 | p.R212* | Nonsense | SNP | 0.531 | 2 | - | - |
ZNF800 | p.R247H | Missense | SNP | 0.509 | 2 | - | - |
ZNF808 | - | - | - | - | 3 | Gain | - |
ZNF813 | - | - | - | - | 3 | Gain | - |
ZNF816 | - | - | - | - | 3 | Gain | - |
ZNF816-ZNF321P | - | - | - | - | 3 | Gain | - |
ZNF83 | - | - | - | - | 3 | Gain | - |
ZNF837 | p.G253S | Missense | SNP | 0.487 | 2 | - | - |
ZNF841 | p.F467del | In_Frame_Del | DEL | 0.361 | 2 | - | - |
ZNF845 | - | - | - | - | 3 | Gain | - |
ZNF888 | - | - | - | - | 3 | Gain | - |
ZNF91 | - | - | - | - | 3 | Gain | - |
ZNF98 | - | - | - | - | 3 | Gain | - |
ZNF99 | - | - | - | - | 3 | Gain | - |
ZP3 | p.N297S | Missense | SNP | 0.359 | 2 | - | - |
ZSCAN26 | p.V298A | Missense | SNP | 0.576 | 2 | - | - |
ZSWIM2 | p.S398L | Missense | SNP | 0.385 | 2 | - | - |
ZSWIM8 | p.P1046del | In_Frame_Del | DEL | 0.503 | 2 | - | - |
ZZEF1 | p.V991M | Missense | SNP | 0.487 | 2 | - | - |