Variant Type | Calling Status |
---|---|
Mutations | Called |
Copy number | Called |
Fusions | Called |
Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
---|---|---|---|---|---|---|---|
ABCA6 | p.F1531Sfs*14 p.L306Yfs*7 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.985 0.974 | 2 | - | - |
ABCB7 | p.F522L | Missense | SNP | 0.513 | ND | ND | - |
ABHD12 | p.H6Afs*63 | Frame_Shift_Ins | INS | 0.341 | 2 | - | - |
ACRBP | p.S359L | Missense | SNP | 0.502 | 2 | - | - |
ACTG2 | p.R29Pfs*30 | Frame_Shift_Ins | INS | 0.335 | 2 | - | - |
ACVR2A | p.K437Rfs*5 | Frame_Shift_Del | DEL | 0.893 | 2 | - | - |
ADAMTS1 | p.K735R | Missense | SNP | 0.392 | 2 | - | - |
ADAMTS2 | p.C1080R | Missense | SNP | 0.432 | 2 | - | - |
ADCY5 | p.A60Gfs*27 | Frame_Shift_Ins | INS | 0.290 | 2 | - | - |
ADGRL2 | p.C602R | Missense | SNP | 0.439 | 2 | - | - |
ADSSL1 | p.K291Qfs*16 | Frame_Shift_Ins | INS | 0.269 | 2 | - | - |
AGO4 | p.R58H | Missense | SNP | 0.483 | 2 | - | - |
AHI1 | p.T304Nfs*6 | Frame_Shift_Ins | INS | 0.352 | 2 | - | - |
AHNAK | - | - | - | - | 3 | Gain | - |
AHNAK2 | p.D5274V | Missense | MNP | 0.446 | 2 | - | - |
AKAP9 | p.K39Rfs*17 | Frame_Shift_Del | DEL | 0.427 | 2 | - | - |
ALS2CR11 | p.Q730Tfs*24 p.D428N | Frame_Shift_Ins Missense | INS SNP | 0.322 0.459 | ND | ND | - |
AMDHD2 | p.R346Qfs*56 | Frame_Shift_Ins | INS | 0.297 | 2 | - | - |
ANKHD1 | - | - | - | - | 3 | Gain | - |
ANKHD1-EIF4EBP3 | - | - | - | - | 3 | Gain | - |
ANTXR2 | p.L21P | Missense | SNP | 0.514 | 2 | - | - |
APBA1 | p.A99V | Missense | SNP | 0.468 | 2 | - | - |
APC | p.D849Rfs*2 p.R232* | Frame_Shift_Ins Nonsense | INS SNP | 0.319 0.389 | 2 | - | - |
APOB | p.V2380A | Missense | SNP | 0.460 | 2 | - | - |
ARHGAP28 | p.D197* | Frame_Shift_Ins | INS | 0.329 | 2 | - | - |
ARHGAP35 | p.R972Pfs*40 | Frame_Shift_Ins | INS | 0.317 | 2 | - | - |
ARHGAP40 | p.T470M | Missense | SNP | 0.560 | 2 | - | - |
ARHGAP5 | p.N943Kfs*10 | Frame_Shift_Ins | INS | 0.284 | 2 | - | - |
ARID1A | p.D1850Gfs*4 | Frame_Shift_Ins | INS | 0.480 | 2 | - | - |
ARID2 | p.A1498V | Missense | SNP | 0.490 | 2 | - | - |
ARID4B | p.K493* | Nonsense | SNP | 0.481 | 2 | - | - |
ARL15 | p.V103Gfs*13 | Frame_Shift_Ins | INS | 0.311 | 2 | - | - |
ARSJ | p.Y117C | Missense | SNP | 0.412 | 2 | - | - |
ARV1 | p.P174Afs*14 | Frame_Shift_Ins | INS | 0.219 | 2 | - | - |
ASB4 | p.T375A | Missense | SNP | 0.475 | 2 | - | - |
ASCC3 | p.E530G | Missense | SNP | 0.461 | 2 | - | - |
ASXL1 | p.G792D | Missense | SNP | 0.462 | 2 | - | - |
ATAD3A | - | - | - | - | 3 | Gain | - |
ATAD3B | - | - | - | - | 3 | Gain | - |
ATAD3C | - | - | - | - | 3 | Gain | - |
ATM | p.K2811Sfs*46 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
BCAS3 | p.G891Efs*76 | Frame_Shift_Del | DEL | 0.768 | 2 | - | - |
BCL9L | p.P449Lfs*14 | Frame_Shift_Del | DEL | 0.431 | 2 | - | - |
BDP1 | p.L313* | Frame_Shift_Del | DEL | 0.462 | 2 | - | - |
BRWD3 | p.R1447Q | Missense | SNP | 0.462 | ND | ND | - |
BTBD7 | p.Q1002Tfs*5 | Frame_Shift_Ins | INS | 0.294 | 2 | - | - |
C1GALT1 | - | - | - | - | 3 | Gain | - |
C1orf116 | p.R213K | Missense | SNP | 0.527 | 2 | - | - |
C20orf194 | - | - | - | - | 1 | Loss | - |
C4A | - | - | - | - | 3 | Gain | - |
C4B | - | - | - | - | 3 | Gain | - |
C6orf10 | p.K226N | Missense | SNP | 0.262 | 2 | - | - |
C9orf84 | p.L1179Ffs*19 | Frame_Shift_Ins | INS | 0.314 | 2 | - | - |
CALD1 | p.D92G | Missense | SNP | 0.364 | 2 | - | - |
CATSPER4 | p.A99P | Missense | SNP | 0.460 | 2 | - | - |
CATSPERD | p.S206Lfs*9 | Frame_Shift_Del | DEL | 0.101 | 2 | - | - |
CBLN3 | p.S125G | Missense | SNP | 0.417 | 2 | - | - |
CBS | - | - | - | - | 1 | Loss | - |
CC2D1A | p.R783Afs*28 | Frame_Shift_Ins | INS | 0.300 | 2 | - | - |
CCDC77 | p.R411C | Missense | SNP | 0.393 | 2 | - | - |
CCNDBP1 | p.L79P | Missense | SNP | 0.440 | 2 | - | - |
CCT8L2 | p.V292M | Missense | SNP | 0.343 | 2 | - | - |
CCZ1B | - | - | - | - | 3 | Gain | - |
CDH1 | p.E739G | Missense | SNP | 0.557 | 2 | - | - |
CDH10 | p.Y730Tfs*19 | Frame_Shift_Del | DEL | 0.107 | 2 | - | - |
CDK11A | p.N37Ifs*17 | Frame_Shift_Del | DEL | 0.396 | 2 | - | - |
CDKN2D | p.N101S | Missense | SNP | 0.480 | 2 | - | - |
CEBPB | p.A60Rfs*181 | Frame_Shift_Ins | INS | 0.309 | 2 | - | - |
CEP55 | p.D247Ifs*9 | Frame_Shift_Del | DEL | 0.465 | 2 | - | - |
CFHR2 | p.R85G | Missense | SNP | 0.427 | 2 | - | - |
CGGBP1 | p.L151I | Missense | SNP | 0.053 | 2 | - | - |
CHM | p.S629R | Missense | SNP | 0.432 | ND | ND | - |
CHRNA7 | p.Q51* | Nonsense | SNP | 0.525 | 2 | - | - |
CKS1B | - | - | - | - | 1 | Loss | - |
CLDN5 | p.G105Vfs*2 | Frame_Shift_Del | DEL | 0.072 | 2 | - | - |
CNN2 | p.G303R | Missense | SNP | 0.506 | 2 | - | - |
COL3A1 | - | - | - | - | 1 | Loss | - |
COL4A3 | - | - | - | - | 1 | Loss | - |
COL4A4 | - | - | - | - | 1 | Loss | - |
COL5A2 | - | - | - | - | 1 | Loss | - |
COL7A1 | p.G2177Wfs*113 | Frame_Shift_Ins | INS | 0.342 | 2 | - | - |
COL9A1 | - | - | - | - | 1 | Loss | - |
COPB2 | p.K64R | Missense | SNP | 0.447 | 2 | - | - |
CPAMD8 | p.R785Qfs*23 | Frame_Shift_Ins | INS | 0.358 | 2 | - | - |
CPNE2 | p.A74T | Missense | SNP | 0.496 | 2 | - | - |
CPXCR1 | p.C218Sfs*16 | Frame_Shift_Del | DEL | 0.474 | ND | ND | - |
CRIPAK | p.A178T | Missense | SNP | 0.223 | ND | ND | - |
CRYAA | - | - | - | - | 1 | Loss | - |
CST1 | p.V81Gfs*28 | Frame_Shift_Ins | INS | 0.312 | 2 | - | - |
CST4 | p.V81Gfs*28 | Frame_Shift_Ins | INS | 0.265 | 2 | - | - |
CYFIP1 | p.S643P | Missense | SNP | 0.424 | 2 | - | - |
CYFIP2 | p.L604P | Missense | SNP | 0.469 | 2 | - | - |
CYLD | p.I769F | Missense | SNP | 0.607 | 2 | - | - |
DAO | p.L27M | Missense | SNP | 0.510 | 2 | - | - |
DAPK1 | p.Y1275Vfs*64 | Frame_Shift_Ins | INS | 0.341 | 2 | - | - |
DCAF15 | p.S118N | Missense | SNP | 0.388 | 2 | - | - |
DCBLD2 | p.A331Sfs*16 | Frame_Shift_Ins | INS | 0.329 | 2 | - | - |
DENND4A | p.G977Rfs*3 | Frame_Shift_Ins | INS | 0.347 | 2 | - | - |
DGKE | p.T204Qfs*6 | Frame_Shift_Del | DEL | 0.417 | 2 | - | - |
DHX36 | p.M154Cfs*27 | Frame_Shift_Del | DEL | 0.411 | 2 | - | - |
DHX8 | p.H32Afs*42 | Frame_Shift_Ins | INS | 0.486 | 2 | - | - |
DIAPH2 | p.N154Tfs*30 | Frame_Shift_Del | DEL | 0.529 | ND | ND | - |
DIRC1 | - | - | - | - | 1 | Loss | - |
DNA2 | p.S779Hfs*6 | Frame_Shift_Del | DEL | 0.546 | 2 | - | - |
DNMT3A | p.A462V | Missense | SNP | 0.081 | 2 | - | - |
DYNC1H1 | - | - | - | - | 3 | Gain | - |
EGLN2 | . | Splice_Site | SNP | 0.567 | 2 | - | - |
EHMT2 | p.V949M p.S222F | Missense Missense | SNP SNP | 0.473 0.522 | 2 | - | - |
EIF3H | p.K241T | Missense | SNP | 0.391 | 2 | - | - |
ELFN1 | p.A663E | Missense | SNP | 0.422 | 2 | - | - |
EMC4 | - | - | - | - | 1 | Loss | - |
ENDOU | p.N107I | Missense | SNP | 0.483 | 2 | - | - |
EPHA5 | p.V775A | Missense | SNP | 0.500 | 2 | - | - |
EPM2AIP1 | p.A367T | Missense | SNP | 0.463 | 2 | - | - |
EPN2 | p.P231L | Missense | SNP | 0.441 | 2 | - | - |
ERBB2 | p.G776V | Missense | SNP | 1.000 | 2 | - | - |
ERBB3 | p.E928G | Missense | SNP | 0.475 | 2 | - | - |
FAM104A | p.Q90Pfs*6 | Frame_Shift_Ins | INS | 0.487 | 2 | - | - |
FAM135A | p.M426T | Missense | SNP | 0.425 | 2 | - | - |
FAM196A | p.R246G | Missense | SNP | 0.436 | ND | ND | - |
FAM81B | p.S18T | Missense | SNP | 0.474 | 2 | - | - |
FAT3 | p.T3619M | Missense | SNP | 0.444 | 2 | - | - |
FAT4 | p.A3494D | Missense | SNP | 0.500 | 2 | - | - |
FBRSL1 | p.A914Pfs*90 | Frame_Shift_Del | DEL | 0.487 | 2 | - | - |
FBXO45 | p.Y124C | Missense | SNP | 0.537 | 2 | - | - |
FBXW4 | p.Y341H | Missense | SNP | 0.549 | 2 | - | - |
FBXW5 | p.V546D | Missense | SNP | 0.503 | 2 | - | - |
FER1L5 | p.D1747N | Missense | SNP | 0.451 | 2 | - | - |
FGFR3 | p.Y278H | Missense | SNP | 0.509 | 2 | - | - |
FILIP1 | p.T1011M | Missense | SNP | 0.474 | 2 | - | - |
FILIP1L | p.L750Tfs*16 | Frame_Shift_Ins | INS | 0.315 | 2 | - | - |
FKBP10 | p.G278Afs*20 | Frame_Shift_Del | DEL | 0.484 | 2 | - | - |
FLAD1 | - | - | - | - | 1 | Loss | - |
FPGT-TNNI3K | p.Y85C | Missense | SNP | 0.481 | 2 | - | - |
FSIP2 | p.S5488Ffs*16 p.I812T | Frame_Shift_Ins Missense | INS SNP | 0.317 0.623 | 2 | - | - |
FSTL4 | p.T834Pfs*59 | Frame_Shift_Del | DEL | 0.384 | 2 | - | - |
FTSJ1 | p.Y262H | Missense | SNP | 0.404 | ND | ND | - |
GAS7 | p.M1? | Frame_Shift_Del | DEL | 0.455 | 2 | - | - |
GATA6 | p.X435_splice | Splice_Site | SNP | 0.431 | 2 | - | - |
GATAD2B | p.R573C | Missense | SNP | 0.574 | 2 | - | - |
GBF1 | - | - | - | - | 1 | Loss | - |
GDF3 | p.M339V | Missense | SNP | 0.316 | 2 | - | - |
GIPC1 | p.P50Lfs*48 | Frame_Shift_Del | DEL | 0.358 | 2 | - | - |
GLI1 | - | - | - | - | 1 | Loss | - |
GLT8D1 | - | - | - | - | 1 | Loss | - |
GNL3 | p.A336G | Missense | SNP | 0.506 | 1 | Loss | - |
GPCPD1 | p.T221A | Missense | SNP | 0.521 | 2 | - | - |
GPR4 | p.A309V | Missense | SNP | 0.438 | 2 | - | - |
GRAP2 | p.P191Rfs*49 | Frame_Shift_Del | DEL | 0.437 | 2 | - | - |
GRIA3 | p.I844M | Missense | SNP | 0.448 | ND | ND | - |
GRPR | p.C113Y | Missense | SNP | 0.308 | ND | ND | - |
GTF3C1 | p.F1755Lfs*50 | Frame_Shift_Del | DEL | 0.462 | 2 | - | - |
GULP1 | - | - | - | - | 1 | Loss | - |
H2AFY2 | p.K147Efs*21 | Frame_Shift_Ins | INS | 0.285 | 2 | - | - |
HAND2 | p.V83Cfs*16 | Frame_Shift_Del | DEL | 0.442 | 2 | - | - |
HASPIN | - | - | - | - | 1 | Loss | - |
HBQ1 | p.Q61R | Missense | SNP | 0.412 | 2 | - | - |
HCN4 | p.A1014Lfs*4 p.S57P | Frame_Shift_Del Missense | DEL SNP | 0.493 0.462 | 2 | - | - |
HNRNPK | - | - | - | - | 1 | Loss | - |
HOXA5 | p.A153T | Missense | SNP | 0.528 | 2 | - | - |
HSD17B3 | p.A283V | Missense | SNP | 0.290 | 2 | - | - |
HSF2BP | - | - | - | - | 1 | Loss | - |
IARS2 | p.G509D | Missense | SNP | 0.414 | 2 | - | - |
IGSF8 | p.G161Rfs*18 | Frame_Shift_Ins | INS | 0.268 | 2 | - | - |
IL27RA | p.V368A | Missense | SNP | 0.466 | 2 | - | - |
INHBE | - | - | - | - | 1 | Loss | - |
IQSEC2 | p.P533S | Missense | SNP | 0.524 | ND | ND | - |
IRS1 | - | - | - | - | 1 | Loss | - |
ISM2 | p.A199T | Missense | SNP | 0.515 | 2 | - | - |
ITGAE | p.L601Pfs*8 | Frame_Shift_Ins | INS | 0.325 | 2 | - | - |
ITGAX | p.Q933H | Missense | SNP | 0.441 | 2 | - | - |
ITIH1 | - | - | - | - | 1 | Loss | - |
ITIH6 | p.P1129L | Missense | SNP | 0.580 | ND | ND | - |
JARID2 | p.A396Gfs*25 | Frame_Shift_Ins | INS | 0.297 | 2 | - | - |
KCNN1 | p.P28H | Missense | SNP | 0.535 | 2 | - | - |
KDM4E | p.F280S | Missense | SNP | 0.458 | 2 | - | - |
KDM5C | p.A1285V | Missense | SNP | 0.496 | ND | ND | - |
KDM6A | p.E1102A | Missense | SNP | 0.455 | ND | ND | - |
KIAA0100 | p.R1371W | Missense | SNP | 0.071 | 2 | - | - |
KIAA0232 | p.A461S | Missense | SNP | 0.517 | 2 | - | - |
KIAA1468 | p.E819G | Missense | SNP | 0.450 | ND | ND | - |
KIAA1671 | p.F1028Lfs*40 | Frame_Shift_Del | DEL | 0.456 | 2 | - | - |
KIF21A | p.K129Nfs*3 | Frame_Shift_Del | DEL | 0.577 | 2 | - | - |
KLHDC8B | p.P162T | Missense | SNP | 0.452 | 2 | - | - |
KMT2C | p.R2066* | Nonsense | SNP | 0.484 | 2 | - | - |
KMT2D | p.Q3919dup | In_Frame_Ins | INS | 0.271 | 2 | - | - |
KRT34 | p.A415T | Missense | SNP | 0.252 | 2 | - | - |
KRTAP4-11 | p.C120* | Nonsense | SNP | 0.424 | ND | ND | - |
LHX1 | p.E399Kfs*2 | Frame_Shift_Del | DEL | 0.417 | 2 | - | - |
LPCAT4 | - | - | - | - | 1 | Loss | - |
LRAT | p.V185A | Missense | SNP | 0.402 | 2 | - | - |
LRFN4 | p.L227Pfs*6 | Frame_Shift_Ins | INS | 0.344 | 2 | - | - |
LRP1 | p.D4193Rfs*9 | Frame_Shift_Ins | INS | 0.303 | 2 | - | - |
LRRC43 | p.L208I | Missense | SNP | 0.483 | 2 | - | - |
LTBP3 | p.Q810R | Missense | SNP | 0.432 | 2 | - | - |
LURAP1 | p.R13Q | Missense | SNP | 0.494 | 2 | - | - |
LUZP1 | p.R509* | Nonsense | SNP | 0.422 | 2 | - | - |
MACF1 | p.Q1755R | Missense | SNP | 0.467 | 2 | - | - |
MAGEC2 | p.S118R p.T18S | Missense Missense | SNP SNP | 0.503 0.417 | ND | ND | - |
MAP1B | p.T1503A | Missense | SNP | 0.484 | 2 | - | - |
MCF2L2 | p.V383G | Missense | SNP | 0.492 | 2 | - | - |
MDGA2 | p.N376Kfs*9 | Frame_Shift_Ins | INS | 0.327 | 2 | - | - |
MDM4 | - | - | - | - | 1 | Loss | - |
MEIOC | p.D880G | Missense | SNP | 0.516 | 2 | - | - |
MEX3A | p.G67Afs*60 | Frame_Shift_Del | DEL | 0.517 | 2 | - | - |
MFRP | p.N167Qfs*34 | Frame_Shift_Ins | INS | 0.305 | 2 | - | - |
MLIP | p.E480Gfs*6 | Frame_Shift_Ins | INS | 0.333 | 2 | - | - |
MSH6 | p.N404T | Missense | SNP | 0.517 | 2 | - | - |
MSRA | p.K235Nfs*14 | Frame_Shift_Del | DEL | 0.506 | 2 | - | - |
MSS51 | p.A23T | Missense | SNP | 0.529 | 2 | - | - |
MUM1L1 | p.Q125Tfs*8 | Frame_Shift_Ins | INS | 0.317 | ND | ND | - |
MYB | p.N715Kfs*12 | Frame_Shift_Ins | INS | 0.311 | 2 | - | - |
MYH1 | p.R1845H | Missense | SNP | 0.404 | 2 | - | - |
MYLK | p.S1015R | Missense | SNP | 0.489 | 2 | - | - |
MYO15A | p.K613T | Missense | SNP | 0.501 | 2 | - | - |
MYO18B | p.C669R | Missense | SNP | 0.521 | 2 | - | - |
MYO1A | p.L500R | Missense | SNP | 0.386 | 2 | - | - |
NALCN | p.K812Rfs*6 p.R737C | Frame_Shift_Del Missense | DEL SNP | 0.510 0.440 | 2 | - | - |
NAPSA | p.A310G | Missense | SNP | 0.430 | 2 | - | - |
NCAPD3 | p.X490_splice | Splice_Site | SNP | 0.567 | 2 | - | - |
NCAPG | p.V629A | Missense | SNP | 0.480 | 2 | - | - |
NCEH1 | p.S105Kfs*16 | Frame_Shift_Ins | INS | 0.299 | 2 | - | - |
NCOR2 | p.R986Pfs*76 | Frame_Shift_Ins | INS | 0.292 | 2 | - | - |
NEGR1 | p.T95A | Missense | SNP | 0.259 | 2 | - | - |
NEK4 | - | - | - | - | 1 | Loss | - |
NF1 | p.X667_splice | Splice_Site | SNP | 0.436 | 2 | - | - |
NFATC1 | p.R590H | Missense | SNP | 0.384 | 2 | - | - |
NFATC3 | p.S690Kfs*22 | Frame_Shift_Ins | INS | 0.290 | 2 | - | - |
NHSL1 | p.T97R | Missense | SNP | 0.336 | 2 | - | - |
NIFK | p.G180Efs*9 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
NOP10 | - | - | - | - | 1 | Loss | - |
NOS3 | p.C441Lfs*57 | Frame_Shift_Ins | INS | 0.310 | 2 | - | - |
NPAT | p.S1291Lfs*2 | Frame_Shift_Ins | INS | 0.306 | 2 | - | - |
NRARP | p.S58P | Missense | SNP | 0.554 | 2 | - | - |
NRXN2 | p.T1508Hfs*82 | Frame_Shift_Ins | INS | 0.265 | 2 | - | - |
NUP188 | p.L253P | Missense | SNP | 0.592 | 2 | - | - |
NUP210 | p.A1755T | Missense | SNP | 0.465 | 2 | - | - |
NUTM1 | - | - | - | - | 1 | Loss | - |
OBSCN | p.E3977A | Missense | SNP | 0.523 | 2 | - | - |
OR10R2 | p.T295M | Missense | SNP | 0.449 | 2 | - | - |
OR10Z1 | p.D89Gfs*23 | Frame_Shift_Ins | INS | 0.267 | 2 | - | - |
OR11H12 | - | - | - | - | 3 | Gain | - |
OR11H2 | - | - | - | - | 3 | Gain | - |
OR1D2 | p.T167A | Missense | SNP | 0.432 | 2 | - | - |
OR4A47 | p.L195R | Missense | SNP | 0.479 | 2 | - | - |
OR4K1 | - | - | - | - | 3 | Gain | - |
OR4K2 | - | - | - | - | 3 | Gain | - |
OR4K5 | - | - | - | - | 3 | Gain | - |
OR4M1 | - | - | - | - | 3 | Gain | - |
OR4N2 | - | - | - | - | 3 | Gain | - |
OR4Q3 | - | - | - | - | 3 | Gain | - |
OR51E2 | p.F156Sfs*6 | Frame_Shift_Del | DEL | 0.506 | 2 | - | - |
OR51S1 | p.G226S | Missense | SNP | 0.489 | 2 | - | - |
ORC3 | p.R368H | Missense | SNP | 0.595 | 2 | - | - |
PAM | p.D434Gfs*6 | Frame_Shift_Ins | INS | 0.330 | 2 | - | - |
PARK2 | p.V330Rfs*17 | Frame_Shift_Ins | INS | 0.393 | ND | ND | - |
PATJ | p.A338Cfs*20 | Frame_Shift_Ins | INS | 0.289 | 2 | - | - |
PAX9 | p.Y286C | Missense | SNP | 0.488 | 2 | - | - |
PAXBP1 | p.A825Pfs*4 | Frame_Shift_Del | DEL | 0.435 | 2 | - | - |
PBX2 | p.G14A | Missense | SNP | 0.141 | 2 | - | - |
PBXIP1 | - | - | - | - | 1 | Loss | - |
PCDH10 | p.Q227Sfs*43 | Frame_Shift_Del | DEL | 0.463 | 2 | - | - |
PCDHA5 | p.F462S | Missense | SNP | 0.479 | 2 | - | - |
PCDHA6 | p.Y518H | Missense | SNP | 0.489 | 2 | - | - |
PCDHA7 | p.S680P | Missense | SNP | 0.383 | 2 | - | - |
PCDHB9 | p.V722A | Missense | SNP | 0.453 | 2 | - | - |
PCIF1 | p.Y618H | Missense | SNP | 0.498 | 2 | - | - |
PCNX1 | p.T1459A | Missense | SNP | 0.430 | 2 | - | - |
PCYT1A | p.S271Afs*29 | Frame_Shift_Del | DEL | 0.569 | 2 | - | - |
PDE10A | - | - | - | - | 1 | Loss | - |
PDE4B | p.R581H | Missense | SNP | 0.471 | 2 | - | - |
PDGFRB | p.R641H | Missense | SNP | 0.425 | 2 | - | - |
PDPR | p.R448H | Missense | SNP | 0.064 | 2 | - | - |
PDZD2 | p.G2075Rfs*24 | Frame_Shift_Ins | INS | 0.304 | 2 | - | - |
PGC | p.R30S | Missense | SNP | 0.500 | 2 | - | - |
PHACTR2 | p.T240Nfs*5 | Frame_Shift_Ins | INS | 0.311 | 2 | - | - |
PHKB | p.A601V | Missense | SNP | 0.462 | 2 | - | - |
PHTF2 | p.L536Ffs*10 | Frame_Shift_Ins | INS | 0.341 | 2 | - | - |
PIK3C2B | - | - | - | - | 1 | Loss | - |
PIK3CA | p.H1047R | Missense | SNP | 0.585 | 2 | - | - |
PILRB | p.I63T p.V64A | Missense Missense | SNP SNP | 0.143 0.152 | 2 | - | - |
PITX3 | - | - | - | - | 1 | Loss | - |
PKD1 | - | - | - | - | 1 | Loss | - |
PLCZ1 | p.N530Mfs*22 | Frame_Shift_Del | DEL | 0.447 | 2 | - | - |
PLEKHA6 | - | - | - | - | 1 | Loss | - |
PLEKHM1 | p.S956F | Missense | SNP | 1.000 | 2 | - | - |
PLOD3 | p.Q293Afs*48 | Frame_Shift_Ins | INS | 0.247 | 2 | - | - |
PLPPR4 | p.S523P | Missense | SNP | 0.444 | 2 | - | - |
PLXNA2 | p.H465Pfs*27 | Frame_Shift_Ins | INS | 0.320 | 2 | - | - |
PMVK | - | - | - | - | 1 | Loss | - |
POF1B | p.T169Nfs*11 | Frame_Shift_Ins | INS | 0.338 | ND | ND | - |
POLH | p.V19Cfs*14 | Frame_Shift_Ins | INS | 0.359 | 2 | - | - |
POTEG | - | - | - | - | 3 | Gain | - |
POTEM | - | - | - | - | 3 | Gain | - |
PPFIA2 | p.N111S | Missense | SNP | 0.472 | 2 | - | - |
PPP1R15B | - | - | - | - | 1 | Loss | - |
PPP4R3B | p.I97Ffs*35 | Frame_Shift_Del | DEL | 0.486 | 2 | - | - |
PREX1 | p.L1659F | Missense | SNP | 0.423 | 2 | - | - |
PRICKLE3 | p.A60T | Missense | SNP | 0.490 | ND | ND | - |
PRRC2C | p.K551Nfs*17 | Frame_Shift_Del | DEL | 0.578 | 2 | - | - |
PTGFR | p.V215G | Missense | SNP | 0.346 | 2 | - | - |
PTPN3 | p.R355W | Missense | SNP | 0.486 | 2 | - | - |
PYGO2 | - | - | - | - | 1 | Loss | - |
RAB11FIP3 | p.E453Sfs*38 | Frame_Shift_Del | DEL | 0.509 | 2 | - | - |
RALGAPA2 | p.G1794Wfs*5 | Frame_Shift_Ins | INS | 0.330 | 2 | - | - |
RAPH1 | p.P766Tfs*157 | Frame_Shift_Ins | INS | 0.224 | 2 | - | - |
RARA | p.A58Gfs*14 | Frame_Shift_Ins | INS | 0.318 | 2 | - | - |
RASAL2 | p.D390Gfs*4 | Frame_Shift_Ins | INS | 0.293 | 2 | - | - |
RBM20 | p.I1090Hfs*4 | Frame_Shift_Ins | INS | 0.300 | 2 | - | - |
RBM27 | p.Q817Tfs*63 | Frame_Shift_Ins | INS | 0.228 | 2 | - | - |
RCAN2 | p.N222K | Missense | SNP | 0.368 | 2 | - | - |
RDH8 | p.A261S | Missense | SNP | 0.480 | 1 | Loss | - |
RECQL4 | p.T858A | Missense | SNP | 0.507 | 2 | - | - |
REXO1 | p.Y1173Ifs*179 | Frame_Shift_Ins | INS | 0.280 | 2 | - | - |
RGS12 | p.Q1292Rfs*49 | Frame_Shift_Del | DEL | 0.447 | 2 | - | - |
RHBDD1 | - | - | - | - | 1 | Loss | - |
RN7SKP48 | - | - | - | - | ND | ND | RN7SKP71--RN7SKP48 |
RN7SKP71 | - | - | - | - | ND | ND | RN7SKP71--RN7SKP48 |
RNF141 | p.T9A | Missense | SNP | 0.440 | 2 | - | - |
ROS1 | p.Y363Lfs*25 | Frame_Shift_Ins | INS | 0.325 | 2 | - | - |
RP4-583P15.15 | p.G262S | Missense | SNP | 0.488 | ND | ND | - |
RPE65 | p.R296Gfs*29 | Frame_Shift_Del | DEL | 0.423 | 2 | - | - |
RPTOR | p.H1177R | Missense | SNP | 0.418 | 2 | - | - |
RSPH10B2 | - | - | - | - | 3 | Gain | - |
SACS | p.K1717Nfs*8 | Frame_Shift_Del | DEL | 0.471 | 2 | - | - |
SATB2 | p.D685G | Missense | SNP | 0.461 | 2 | - | - |
SCAF1 | p.E729G | Missense | SNP | 0.487 | 2 | - | - |
SCN10A | p.T709Yfs*3 | Frame_Shift_Ins | INS | 0.288 | 2 | - | - |
SCN5A | p.T630A | Missense | SNP | 0.496 | 2 | - | - |
SCNN1G | p.S302Qfs*27 | Frame_Shift_Ins | INS | 0.315 | 2 | - | - |
SEC14L5 | p.I435F | Missense | SNP | 0.598 | 2 | - | - |
SEC31B | p.A700E | Missense | SNP | 0.372 | 2 | - | - |
SEL1L | p.E358del | In_Frame_Del | DEL | 0.388 | 2 | - | - |
SHANK3 | p.T1606Pfs*24 | Frame_Shift_Del | DEL | 0.441 | 2 | - | - |
SHC1 | - | - | - | - | 1 | Loss | - |
SHISA2 | p.A31V | Missense | SNP | 0.476 | 2 | - | - |
SHOC2 | p.L333P | Missense | SNP | 0.884 | 2 | - | - |
SIK1 | - | - | - | - | 1 | Loss | - |
SIX3 | p.L7Pfs*26 | Frame_Shift_Ins | INS | 0.319 | 2 | - | - |
SLC12A6 | - | - | - | - | 1 | Loss | - |
SLC16A1 | p.D15Rfs*34 | Frame_Shift_Ins | INS | 0.281 | 2 | - | - |
SLC25A38 | p.L165P | Missense | SNP | 0.462 | 2 | - | - |
SLC29A4 | p.E35G | Missense | SNP | 0.456 | 2 | - | - |
SLC2A7 | p.Y380C | Missense | SNP | 0.415 | 2 | - | - |
SLCO3A1 | p.A573T | Missense | SNP | 0.475 | 2 | - | - |
SMARCA4 | p.E365G | Missense | SNP | 0.531 | 2 | - | - |
SMPD4 | p.Y480H | Missense | SNP | 0.555 | 2 | - | - |
SMPDL3B | p.R17G | Missense | SNP | 0.567 | 2 | - | - |
SMURF1 | - | - | - | - | 3 | Gain | - |
SOX11 | p.R16Pfs*209 | Frame_Shift_Ins | INS | 0.349 | 2 | - | - |
SOX9 | p.H169R | Missense | SNP | 1.000 | 2 | - | - |
SPAG17 | p.A1503T | Missense | SNP | 0.287 | 2 | - | - |
SPCS1 | - | - | - | - | 1 | Loss | - |
SPG21 | p.L191S | Missense | SNP | 0.509 | 2 | - | - |
SRA1 | - | - | - | - | 3 | Gain | - |
SRMS | p.L9R | Missense | SNP | 0.379 | 2 | - | - |
SRPX2 | p.Y26F p.A124T | Missense Missense | SNP SNP | 0.371 0.341 | ND | ND | - |
SSBP4 | p.A157Pfs*40 | Frame_Shift_Ins | INS | 0.248 | 2 | - | - |
SSH2 | p.R1441Tfs*8 | Frame_Shift_Ins | INS | 0.317 | 2 | - | - |
SSU72 | - | - | - | - | 3 | Gain | - |
STAB1 | p.G134E | Missense | SNP | 0.490 | 2 | - | - |
SYNJ2 | p.P1114Sfs*48 | Frame_Shift_Ins | INS | 0.254 | 2 | - | - |
SYNPO2 | p.K752E | Missense | SNP | 0.500 | 2 | - | - |
TAF1 | p.R122Q | Missense | SNP | 0.450 | ND | ND | - |
TAF1L | p.A666Gfs*38 p.P1311H | Frame_Shift_Ins Missense | INS SNP | 0.302 0.523 | 2 | - | - |
TAF4B | p.A599P | Missense | SNP | 0.519 | 2 | - | - |
TBC1D23 | p.H650Tfs*3 | Frame_Shift_Ins | INS | 0.356 | 2 | - | - |
TBL1XR1 | p.L336S | Missense | SNP | 0.431 | 2 | - | - |
TCEB3CL | p.R285W | Missense | SNP | 0.080 | ND | ND | - |
TEX41 | . | Splice_Site | SNP | 0.422 | ND | ND | - |
TGIF2LX | p.L159Pfs*22 | Frame_Shift_Ins | INS | 0.318 | ND | ND | - |
TGM3 | p.R248M | Missense | SNP | 0.405 | 2 | - | - |
TGM6 | p.Q360Rfs*99 | Frame_Shift_Del | DEL | 0.683 | 2 | - | - |
TICAM1 | p.P643Tfs*123 | Frame_Shift_Ins | INS | 0.278 | 2 | - | - |
TMEM237 | p.Y248C | Missense | SNP | 0.480 | 2 | - | - |
TMEM240 | - | - | - | - | 3 | Gain | - |
TMEM8A | p.A733T | Missense | SNP | 0.080 | 2 | - | - |
TMEM97 | p.K176Nfs*188 | Frame_Shift_Del | DEL | 0.882 | 2 | - | - |
TNK2 | p.P711Afs*4 | Frame_Shift_Ins | INS | 0.437 | 2 | - | - |
TNXB | p.T2714M | Missense | SNP | 0.418 | 2 | - | - |
TOP3A | p.R758Qfs*3 | Frame_Shift_Ins | INS | 0.243 | 2 | - | - |
TPST2 | p.A44Gfs*5 | Frame_Shift_Ins | INS | 0.306 | 2 | - | - |
TRA2A | p.R83Q | Missense | SNP | 1.000 | 2 | - | - |
TRIM26 | p.R464C | Missense | SNP | 0.556 | 2 | - | - |
TRPM6 | p.A917V | Missense | SNP | 0.605 | 2 | - | - |
TRPM8 | p.E768Rfs*14 | Frame_Shift_Ins | INS | 0.267 | 2 | - | - |
TRPS1 | p.P578S | Missense | SNP | 0.477 | 2 | - | - |
TRRAP | p.M826V | Missense | SNP | 0.474 | 3 | Gain | - |
TSC22D4 | p.V382A | Missense | SNP | 0.448 | 2 | - | - |
TSHZ3 | p.Y197* | Nonsense | SNP | 0.543 | 2 | - | - |
TTK | p.R854Gfs*39 | Frame_Shift_Del | DEL | 0.432 | 2 | - | - |
TUBB1 | p.D209G | Missense | SNP | 0.456 | 2 | - | - |
TUBGCP4 | p.I276Sfs*16 | Frame_Shift_Del | DEL | 0.445 | 2 | - | - |
TYW1B | p.D303G | Missense | SNP | 0.366 | 2 | - | - |
U2AF1 | - | - | - | - | 1 | Loss | - |
UGT2B10 | p.N212Ifs*17 | Frame_Shift_Del | DEL | 0.284 | 2 | - | - |
ULK1 | p.L139P | Missense | SNP | 0.476 | 2 | - | - |
ULK2 | p.S279Ifs*64 | Frame_Shift_Ins | INS | 0.309 | 2 | - | - |
USP47 | p.G1101Efs*22 | Frame_Shift_Del | DEL | 0.658 | 2 | - | - |
USP7 | p.Q4H | Missense | SNP | 0.563 | 2 | - | - |
UTRN | p.G594D | Missense | SNP | 0.439 | 2 | - | - |
VASH1 | p.K5Efs*39 | Frame_Shift_Ins | INS | 0.332 | 2 | - | - |
VCX3A | p.S96N | Missense | SNP | 0.229 | ND | ND | - |
VLDLR | p.A195T | Missense | SNP | 0.460 | 2 | - | - |
WDFY3 | p.Q41R | Missense | SNP | 0.465 | 2 | - | - |
WDR17 | p.X866_splice | Splice_Site | SNP | 0.443 | 2 | - | - |
WDR64 | p.S136R | Missense | SNP | 0.388 | 2 | - | - |
WDR66 | p.L436Tfs*4 | Frame_Shift_Ins | INS | 0.269 | 2 | - | - |
WFDC3 | p.C56R | Missense | SNP | 0.458 | 2 | - | - |
WNT7A | p.G288R | Missense | SNP | 0.516 | 2 | - | - |
WWP2 | p.R542H | Missense | SNP | 0.465 | 2 | - | - |
YLPM1 | p.G255Wfs*3 | Frame_Shift_Ins | INS | 0.261 | 2 | - | - |
ZBED5 | p.P105Tfs*7 | Frame_Shift_Ins | INS | 0.317 | 2 | - | - |
ZDHHC8 | p.T459Rfs*177 | Frame_Shift_Del | DEL | 0.491 | 2 | - | - |
ZER1 | p.X104_splice | Splice_Site | SNP | 0.545 | 2 | - | - |
ZFHX4 | p.Q179H | Missense | SNP | 0.538 | 2 | - | - |
ZFP37 | p.A22V | Missense | SNP | 0.519 | 2 | - | - |
ZKSCAN1 | p.I23V | Missense | SNP | 0.447 | 2 | - | - |
ZMYM3 | p.Y1161C | Missense | SNP | 0.500 | ND | ND | - |
ZNF112 | p.R791H | Missense | SNP | 0.505 | 2 | - | - |
ZNF12 | - | - | - | - | 3 | Gain | - |
ZNF480 | p.I504M | Missense | SNP | 0.514 | 2 | - | - |
ZNF644 | p.R291Kfs*19 | Frame_Shift_Ins | INS | 0.286 | 2 | - | - |
ZNF687 | p.R871Kfs*34 | Frame_Shift_Ins | INS | 0.305 | 2 | - | - |
ZNF813 | p.R466G | Missense | SNP | 0.460 | 2 | - | - |
ZNF98 | p.N102Ifs*6 | Frame_Shift_Del | DEL | 0.343 | 2 | - | - |
ZSCAN20 | p.R114H | Missense | SNP | 0.480 | 2 | - | - |