Variant Type | Calling Status |
---|---|
Mutations | Called |
Copy number | Called |
Fusions | Called |
Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
---|---|---|---|---|---|---|---|
AAR2 | p.L130P | Missense | SNP | 0.469 | 2 | - | - |
ABCC5 | p.L1090Cfs*26 p.T228M | Frame_Shift_Del Missense | DEL SNP | 0.458 0.404 | 2 | - | - |
ABCF1 | p.K260Sfs*2 | Frame_Shift_Del | DEL | 0.408 | 2 | - | - |
ABCG1 | p.E42D | Missense | SNP | 0.523 | 2 | - | - |
ABHD18 | p.S287P | Missense | SNP | 0.516 | 2 | - | - |
AC008758.1 | - | - | - | - | 3 | Gain | - |
AC008758.4 | - | - | - | - | 3 | Gain | - |
AC008758.5 | - | - | - | - | 3 | Gain | - |
AC008758.6 | - | - | - | - | 3 | Gain | - |
AC008770.1 | - | - | - | - | 3 | Gain | - |
AC008770.2 | - | - | - | - | 3 | Gain | - |
AC010422.3 | - | - | - | - | 3 | Gain | - |
AC010422.5 | - | - | - | - | 3 | Gain | - |
AC010422.6 | - | - | - | - | 3 | Gain | - |
AC010422.8 | - | - | - | - | 3 | Gain | - |
AC010487.3 | - | - | - | - | 3 | Gain | - |
AC026786.1 | - | - | - | - | 3 | Gain | - |
AC067968.1 | - | - | - | - | 3 | Gain | - |
AC083800.1 | - | - | - | - | 3 | Gain | - |
AC244517.10 | - | - | - | - | 3 | Gain | - |
AC245748.1 | - | - | - | - | 3 | Gain | - |
ACSS3 | p.P287H | Missense | SNP | 0.500 | 2 | - | - |
ACTA1 | p.S237del | In_Frame_Del | DEL | 0.381 | 2 | - | - |
ACTL6B | p.G50Afs*40 | Frame_Shift_Del | DEL | 0.475 | 2 | - | - |
ADAMTS10 | p.Q765Sfs*7 | Frame_Shift_Del | DEL | 0.488 | 2 | - | - |
ADAMTS16 | p.E397V p.C1002Y | Missense Missense | SNP SNP | 0.521 0.532 | 2 | - | - |
ADAMTS17 | p.T983M | Missense | SNP | 0.526 | 2 | - | - |
ADAMTSL1 | p.I396Hfs*30 | Frame_Shift_Ins | INS | 0.316 | 2 | - | - |
ADAR | p.F482del | In_Frame_Del | DEL | 0.394 | 2 | - | - |
ADARB2 | p.X360_splice p.G92C | Splice_Site Missense | SNP SNP | 0.550 0.472 | 2 | - | - |
ADGRA2 | p.G295D | Missense | SNP | 0.447 | 2 | - | - |
ADGRE1 | p.G655D | Missense | SNP | 0.418 | 2 | - | - |
ADRA2A | p.G36Afs*12 | Frame_Shift_Del | DEL | 0.439 | 2 | - | - |
AGPAT1 | p.Y213C | Missense | SNP | 0.521 | 2 | - | - |
AGT | p.F430Lfs*25 | Frame_Shift_Del | DEL | 0.504 | 2 | - | - |
AHDC1 | p.R587Tfs*56 p.R1286W | Frame_Shift_Ins Missense | INS SNP | 0.256 0.484 | 2 | - | - |
AHNAK2 | p.L4016I | Missense | SNP | 0.471 | 2 | - | - |
AIF1L | p.A156Pfs*44 | Frame_Shift_Del | DEL | 0.443 | 2 | - | - |
AK7 | p.F229Lfs*21 | Frame_Shift_Del | DEL | 0.618 | 2 | - | - |
AKR7L | p.L294P | Missense | SNP | 0.440 | 2 | - | - |
AL356053.1 | p.K242Rfs*30 | Frame_Shift_Del | DEL | 0.478 | ND | ND | - |
ALG10 | p.F159Lfs*7 | Frame_Shift_Del | DEL | 0.117 | 2 | - | - |
ALG10B | p.S302Lfs*17 | Frame_Shift_Del | DEL | 0.263 | 2 | - | - |
ALS2CR11 | p.L806* p.K729Nfs*4 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.600 0.596 | ND | ND | - |
AMBRA1 | p.N1214D | Missense | SNP | 0.482 | 2 | - | - |
AMPD2 | p.A479V | Missense | SNP | 0.498 | 2 | - | - |
ANHX | - | - | - | - | 3 | Gain | - |
ANK3 | p.K4020Rfs*45 p.E1900* | Frame_Shift_Del Nonsense | DEL SNP | 0.461 0.398 | 2 | - | - |
ANKRD17 | p.R1948H | Missense | SNP | 0.337 | 2 | - | - |
ANKRD26 | p.K1234Nfs*19 | Frame_Shift_Del | DEL | 0.468 | 2 | - | - |
ANKRD31 | p.G512Vfs*20 | Frame_Shift_Del | DEL | 0.124 | 2 | - | - |
ANKRD35 | p.Q778Kfs*23 | Frame_Shift_Del | DEL | 0.437 | 2 | - | - |
ANKRD52 | p.X936_splice | Splice_Site | SNP | 0.480 | 2 | - | - |
ANTXR1 | p.R103C | Missense | SNP | 0.541 | 2 | - | - |
AP2S1 | - | - | - | - | 3 | Gain | - |
AP5M1 | p.D103G | Missense | SNP | 0.497 | 2 | - | - |
APBA2 | p.R695C | Missense | SNP | 0.489 | 2 | - | - |
APC | p.R194Kfs*58 | Frame_Shift_Ins | INS | 0.317 | 2 | - | - |
APMAP | p.Y316Tfs*29 | Frame_Shift_Del | DEL | 0.417 | 2 | - | - |
APPL1 | p.R526H | Missense | SNP | 0.532 | 2 | - | - |
ARFGEF1 | p.L1496S | Missense | SNP | 0.514 | 2 | - | - |
ARFIP1 | p.A299V | Missense | SNP | 0.439 | 2 | - | - |
ARHGAP20 | p.A642Gfs*11 | Frame_Shift_Ins | INS | 0.300 | 2 | - | - |
ARHGAP27 | p.G769E | Missense | SNP | 0.483 | 2 | - | - |
ARHGAP33 | p.V423A | Missense | SNP | 0.496 | 2 | - | - |
ARHGAP35 | - | - | - | - | 3 | Gain | - |
ARHGEF17 | p.P617Lfs*10 | Frame_Shift_Del | DEL | 0.467 | 2 | - | - |
ARID1A | p.P1554Hfs*11 | Frame_Shift_Del | DEL | 0.575 | 2 | - | - |
ARL13B | p.M280Wfs*10 p.N311Kfs*2 | Frame_Shift_Del Frame_Shift_Ins | DEL INS | 0.441 0.080 | 2 | - | - |
ARMC4 | p.G778V | Missense | SNP | 0.505 | 2 | - | - |
ARRB2 | p.T268A | Missense | SNP | 0.452 | 2 | - | - |
ASB4 | p.L212Wfs*59 | Frame_Shift_Del | DEL | 0.344 | 2 | - | - |
ASNA1 | - | - | - | - | 3 | Gain | - |
ATF7IP | p.V728A | Missense | SNP | 0.527 | 2 | - | - |
ATIC | p.R451H | Missense | SNP | 0.479 | 2 | - | - |
ATOH8 | p.I195T | Missense | SNP | 0.481 | 2 | - | - |
ATP11A | p.T949I | Missense | SNP | 0.483 | 2 | - | - |
ATP13A3 | p.W1027Gfs*31 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
ATP2A1 | p.R822Pfs*39 | Frame_Shift_Ins | INS | 0.304 | 2 | - | - |
ATP8A1 | p.K162Rfs*6 | Frame_Shift_Del | DEL | 0.433 | 2 | - | - |
ATXN7L2 | p.R334H | Missense | SNP | 0.117 | 2 | - | - |
AXL | p.*895Rext*14 | Nonstop | SNP | 0.515 | 2 | - | - |
B2M | p.V69Wfs*34 p.X23_splice | Frame_Shift_Del Splice_Site | DEL SNP | 0.360 0.551 | 2 | - | - |
B4GALT4 | - | - | - | - | 3 | Gain | - |
BAALC | p.R67Q | Missense | SNP | 0.473 | 2 | - | - |
BAX | p.E41Rfs*19 | Frame_Shift_Del | DEL | 0.443 | 2 | - | - |
BAZ2B | p.E396K | Missense | SNP | 0.577 | 2 | - | - |
BBS9 | p.S488Ffs*30 | Frame_Shift_Ins | INS | 0.333 | 2 | - | - |
BBX | p.I603* | Frame_Shift_Del | DEL | 0.434 | 2 | - | - |
BCKDHA | p.R40Gfs*23 | Frame_Shift_Del | DEL | 0.463 | 2 | - | - |
BCL11A | p.T748Pfs*5 | Frame_Shift_Del | DEL | 0.345 | 2 | - | - |
BCL11B | p.L668Sfs*55 | Frame_Shift_Del | DEL | 0.433 | 2 | - | - |
BCL9 | p.P516Lfs*5 | Frame_Shift_Del | DEL | 0.533 | 2 | - | - |
BDKRB2 | p.R169C | Missense | SNP | 0.462 | 2 | - | - |
BEST2 | - | - | - | - | 3 | Gain | - |
BHLHE22 | p.S234dup | In_Frame_Ins | INS | 0.307 | 2 | - | - |
BHLHE23 | p.Q204H | Missense | SNP | 0.474 | 2 | - | - |
BICD2 | p.S531R | Missense | SNP | 0.505 | 2 | - | - |
BICDL2 | p.S402G | Missense | SNP | 0.479 | 2 | - | - |
BIRC6 | p.L3813Yfs*3 p.X4452_splice | Frame_Shift_Del Splice_Site | DEL SNP | 0.447 0.461 | 2 | - | - |
BLK | p.G103* | Nonsense | SNP | 0.470 | 2 | - | - |
BOC | p.R69C | Missense | SNP | 0.474 | 2 | - | - |
BOD1L1 | p.I2940* | Frame_Shift_Del | DEL | 0.452 | 2 | - | - |
BRAF | p.P403Lfs*8 | Frame_Shift_Del | DEL | 0.387 | 2 | - | - |
BRCA2 | p.T3033Lfs*29 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
BRF1 | p.K313Nfs*20 | Frame_Shift_Del | DEL | 0.489 | 2 | - | - |
BRINP3 | p.S425L | Missense | SNP | 0.500 | 2 | - | - |
BRMS1L | p.R83* | Nonsense | SNP | 0.438 | 2 | - | - |
BRSK2 | p.P626Qfs*55 | Frame_Shift_Del | DEL | 0.092 | 2 | - | - |
BRWD1 | p.L2309* | Frame_Shift_Del | DEL | 0.273 | 2 | - | - |
BTBD17 | p.M259R | Missense | SNP | 0.490 | 2 | - | - |
BTN2A1 | p.M153T | Missense | SNP | 0.544 | 2 | - | - |
BTNL2 | p.Q372* | Nonsense | SNP | 0.595 | 2 | - | - |
C11orf63 | p.T169P | Missense | SNP | 0.536 | ND | ND | - |
C15orf39 | p.R882W | Missense | SNP | 0.380 | 2 | - | - |
C16orf62 | p.V883Gfs*23 | Frame_Shift_Ins | INS | 0.330 | ND | ND | - |
C16orf96 | p.K210* | Nonsense | SNP | 0.536 | 2 | - | - |
C1GALT1 | - | - | - | - | 3 | Gain | - |
C1orf127 | p.Q458* | Nonsense | SNP | 0.478 | 2 | - | - |
C2orf42 | p.K410Nfs*38 | Frame_Shift_Del | DEL | 0.405 | 2 | - | - |
C3orf30 | - | - | - | - | 3 | Gain | - |
C3orf33 | p.S66L | Missense | SNP | 0.341 | 2 | - | - |
C4orf47 | p.N93Ifs*2 | Frame_Shift_Del | DEL | 0.580 | 2 | - | - |
C5orf42 | p.Y607Tfs*6 p.Q2723R | Frame_Shift_Del Missense | DEL SNP | 0.412 0.458 | ND | ND | - |
C6orf222 | p.R468Q | Missense | SNP | 0.510 | 2 | - | - |
C6orf89 | p.P60Rfs*7 | Frame_Shift_Del | DEL | 0.472 | 2 | - | - |
C8orf33 | - | - | - | - | 3 | Gain | - |
C8orf37 | p.E3D | Missense | SNP | 0.478 | 2 | - | - |
C9orf69 | p.A67V | Missense | SNP | 0.467 | ND | ND | - |
CABYR | p.S345Vfs*20 | Frame_Shift_Del | DEL | 0.496 | 2 | - | - |
CACNA1D | p.E1354Kfs*24 | Frame_Shift_Del | DEL | 0.514 | 2 | - | - |
CACNA1I | p.S597N | Missense | SNP | 0.462 | 2 | - | - |
CACNA2D1 | - | - | - | - | 1 | Loss | - |
CALM3 | - | - | - | - | 3 | Gain | - |
CAMSAP2 | p.K1263Nfs*19 | Frame_Shift_Del | DEL | 0.361 | 2 | - | - |
CAPN10 | p.G531Afs*71 | Frame_Shift_Del | DEL | 0.124 | 2 | - | - |
CARD6 | p.C975R | Missense | SNP | 0.189 | 2 | - | - |
CARS2 | - | - | - | - | 1 | Loss | - |
CATSPERB | p.L1071Ifs*24 p.V941Ffs*34 | Frame_Shift_Ins Frame_Shift_Del | INS DEL | 0.276 0.468 | 2 | - | - |
CBARP | p.E347Q | Missense | SNP | 0.497 | 2 | - | - |
CBLN4 | p.K154N | Missense | SNP | 0.462 | 2 | - | - |
CBR3 | p.L84Sfs*26 | Frame_Shift_Del | DEL | 0.344 | 2 | - | - |
CCDC146 | - | - | - | - | 1 | Loss | - |
CCDC149 | p.G516W | Missense | SNP | 0.478 | 2 | - | - |
CCDC168 | p.A2697Sfs*9 p.I789Ffs*3 p.P5309S p.E4452D | Frame_Shift_Ins Frame_Shift_Del Missense Missense | INS DEL SNP SNP | 0.308 0.634 0.449 0.531 | 2 | - | - |
CCDC3 | p.Y267Tfs*21 | Frame_Shift_Del | DEL | 0.490 | 2 | - | - |
CCDC59 | p.K221Rfs*6 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
CCDC80 | p.P265T | Missense | SNP | 0.525 | 2 | - | - |
CCER1 | p.L384* | Frame_Shift_Del | DEL | 0.481 | 2 | - | - |
CCM2 | p.L134R | Missense | SNP | 0.462 | 2 | - | - |
CCM2L | p.D48Tfs*27 | Frame_Shift_Del | DEL | 0.494 | 2 | - | - |
CCR10 | p.A126T | Missense | SNP | 0.455 | 2 | - | - |
CCZ1B | - | - | - | - | 3 | Gain | - |
CD101 | p.C778R | Missense | SNP | 0.532 | 2 | - | - |
CD19 | p.Q345H | Missense | SNP | 0.429 | 2 | - | - |
CD248 | p.R744Gfs*61 | Frame_Shift_Del | DEL | 0.519 | 2 | - | - |
CD36 | - | - | - | - | 1 | Loss | - |
CD96 | p.T26Qfs*18 | Frame_Shift_Del | DEL | 0.431 | 2 | - | - |
CDC20B | p.S443Kfs*14 | Frame_Shift_Ins | INS | 0.305 | 2 | - | - |
CDH18 | p.V234I | Missense | SNP | 0.358 | 2 | - | - |
CDH23 | p.T2225I | Missense | SNP | 0.468 | 2 | - | - |
CDH24 | p.A713Gfs*182 | Frame_Shift_Ins | INS | 0.276 | 2 | - | - |
CDK11A | p.E188* | Nonsense | SNP | 0.231 | 2 | - | - |
CDK11B | p.E336del | In_Frame_Del | DEL | 0.255 | 2 | - | - |
CDK20 | p.H319Pfs*4 | Frame_Shift_Ins | INS | 0.303 | 2 | - | - |
CDK8 | p.A172S | Missense | SNP | 0.400 | 2 | - | - |
CDK9 | p.I210Lfs*66 | Frame_Shift_Del | DEL | 0.530 | 2 | - | - |
CEL | p.A659Pfs*48 | Frame_Shift_Del | DEL | 0.097 | 2 | - | - |
CELF6 | p.S7Qfs*12 | Frame_Shift_Del | DEL | 0.378 | 2 | - | - |
CEMIP | p.G380Afs*28 | Frame_Shift_Del | DEL | 0.477 | 2 | - | - |
CENPK | p.T78Hfs*7 | Frame_Shift_Del | DEL | 0.360 | 2 | - | - |
CEP135 | p.R797C p.R1115C | Missense Missense | SNP SNP | 0.105 0.060 | 2 | - | - |
CEP162 | p.I921Ffs*15 | Frame_Shift_Del | DEL | 0.292 | 2 | - | - |
CFAP46 | p.R2676C | Missense | SNP | 0.471 | 2 | - | - |
CFAP61 | p.T237I | Missense | SNP | 0.588 | 2 | - | - |
CFAP70 | p.R300* | Nonsense | SNP | 0.364 | 2 | - | - |
CH17-140K24.5 | p.K34E | Missense | SNP | 0.462 | ND | ND | - |
CHD3 | p.R599Vfs*16 | Frame_Shift_Del | DEL | 0.396 | 2 | - | - |
CHD5 | p.D669V | Missense | SNP | 0.443 | 2 | - | - |
CHD7 | p.D652Tfs*59 p.D849Ifs*39 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.536 0.288 | 2 | - | - |
CHD9 | p.Q2476P | Missense | SNP | 0.627 | 2 | - | - |
CHEK1 | p.T226Hfs*14 | Frame_Shift_Del | DEL | 0.447 | 2 | - | - |
CHGB | p.Q308Rfs*14 | Frame_Shift_Del | DEL | 0.496 | 2 | - | - |
CHM | p.A265V | Missense | SNP | 1.000 | ND | ND | - |
CHST15 | p.W290L | Missense | SNP | 0.409 | 2 | - | - |
CIC | p.P135T | Missense | SNP | 0.498 | 2 | - | - |
CILP2 | p.T835A | Missense | SNP | 0.525 | 2 | - | - |
CIRBP | p.L195F | Missense | SNP | 0.488 | 2 | - | - |
CLASRP | p.P102Qfs*74 | Frame_Shift_Del | DEL | 0.463 | 2 | - | - |
CLCN3 | p.N411S | Missense | SNP | 0.539 | 2 | - | - |
CLCN6 | p.F101Lfs*66 | Frame_Shift_Del | DEL | 0.472 | 2 | - | - |
CLIP2 | p.G228D | Missense | SNP | 0.527 | 2 | - | - |
CLIP3 | p.V501Sfs*54 | Frame_Shift_Ins | INS | 0.315 | 2 | - | - |
CLK2 | p.I497N | Missense | SNP | 0.509 | 2 | - | - |
CLOCK | p.L123* | Frame_Shift_Del | DEL | 0.429 | 2 | - | - |
CLSPN | p.P1315H | Missense | SNP | 0.404 | 2 | - | - |
CNGB1 | p.T1021M p.R552C | Missense Missense | SNP SNP | 0.493 0.414 | 2 | - | - |
CNGB3 | p.L617* | Frame_Shift_Del | DEL | 0.465 | 2 | - | - |
CNKSR2 | p.A478S | Missense | SNP | 1.000 | ND | ND | - |
CNTNAP3B | p.G560Afs*15 | Frame_Shift_Del | DEL | 0.578 | 2 | - | - |
CNTNAP5 | p.W874L | Missense | SNP | 0.486 | 2 | - | - |
CNTRL | p.N1300Tfs*22 | Frame_Shift_Del | DEL | 0.109 | 2 | - | - |
COG1 | p.D705G p.W974* | Missense Nonsense | SNP SNP | 0.433 0.445 | 2 | - | - |
COG2 | p.K127Rfs*5 | Frame_Shift_Del | DEL | 0.463 | 2 | - | - |
COL12A1 | p.E1642Sfs*5 | Frame_Shift_Del | DEL | 0.053 | 2 | - | - |
COL14A1 | p.T687M | Missense | SNP | 0.417 | 2 | - | - |
COL22A1 | - | - | - | - | 1 | Loss | - |
COL25A1 | - | - | - | - | 1 | Loss | - |
COL27A1 | - | - | - | - | 1 | Loss | - |
COL28A1 | p.V898Wfs*18 | Frame_Shift_Del | DEL | 0.404 | 2 | - | - |
COL3A1 | - | - | - | - | 1 | Loss | - |
COL4A1 | - | - | - | - | 1 | Loss | - |
COL4A2 | p.K242Rfs*4 | Frame_Shift_Del | DEL | 0.464 | 1 | Loss | - |
COL4A3 | - | - | - | - | 1 | Loss | - |
COL5A1 | p.P966Lfs*108 | Frame_Shift_Del | DEL | 0.977 | 2 | - | - |
COL5A2 | - | - | - | - | 1 | Loss | - |
COL8A1 | p.H599Mfs*24 | Frame_Shift_Del | DEL | 0.466 | 2 | - | - |
COL9A1 | - | - | - | - | 1 | Loss | - |
COL9A2 | p.R518Q | Missense | SNP | 0.467 | 2 | - | - |
COL9A3 | p.A6V | Missense | SNP | 0.546 | 2 | - | - |
COMMD5 | - | - | - | - | 3 | Gain | - |
COPZ1 | p.L184I | Missense | SNP | 0.561 | 2 | - | - |
CP | p.M1? | Frame_Shift_Del | DEL | 0.094 | 2 | - | - |
CPA4 | p.A282T | Missense | SNP | 0.535 | 2 | - | - |
CPS1 | p.N222T | Missense | SNP | 0.355 | 2 | - | - |
CPSF2 | p.I552Sfs*5 | Frame_Shift_Del | DEL | 0.583 | 2 | - | - |
CPSF6 | p.D574E | Missense | SNP | 0.500 | 2 | - | - |
CR2 | p.R341C | Missense | SNP | 0.069 | 2 | - | - |
CREBZF | p.K226del | In_Frame_Del | DEL | 0.375 | 2 | - | - |
CRELD2 | p.R6Wfs*86 | Frame_Shift_Del | DEL | 0.558 | 2 | - | - |
CSMD1 | p.H982R | Missense | SNP | 0.427 | 2 | - | - |
CTLA4 | p.Y177Ifs*10 | Frame_Shift_Del | DEL | 0.516 | 2 | - | - |
CTNNA1 | p.R308H p.A784T | Missense Missense | SNP SNP | 0.467 0.522 | 2 | - | - |
CTNNA3 | p.E354Kfs*6 | Frame_Shift_Del | DEL | 0.179 | 2 | - | - |
CTNNB1 | p.S45P | Missense | SNP | 1.000 | 2 | - | - |
CUBN | p.R1810* p.R1349H | Nonsense Missense | SNP SNP | 0.490 0.431 | 2 | - | - |
CUEDC1 | p.L33R | Missense | SNP | 0.539 | 2 | - | - |
CUL3 | p.R128C | Missense | SNP | 0.483 | 2 | - | - |
CUX1 | p.Q1250Sfs*4 | Frame_Shift_Del | DEL | 0.391 | 2 | - | - |
CYB5R4 | - | - | - | - | 1 | Loss | - |
CYP11B2 | p.L496Sfs*178 | Frame_Shift_Del | DEL | 0.467 | 2 | - | - |
CYP1A2 | p.T118A | Missense | SNP | 0.478 | 2 | - | - |
CYP2S1 | p.P469Rfs*4 | Frame_Shift_Del | DEL | 0.406 | 2 | - | - |
CYP51A1 | p.A172T | Missense | SNP | 0.590 | 2 | - | - |
DAAM2 | p.R498C | Missense | SNP | 0.448 | 2 | - | - |
DAB2IP | p.H997Tfs*5 | Frame_Shift_Del | DEL | 0.442 | 2 | - | - |
DACT3 | - | - | - | - | 3 | Gain | - |
DCC | p.P1266S | Missense | SNP | 0.589 | 2 | - | - |
DCHS1 | p.R850H | Missense | SNP | 0.358 | 2 | - | - |
DCHS2 | p.V160M | Missense | SNP | 0.469 | 2 | - | - |
DDA1 | p.A91V | Missense | SNP | 0.398 | 2 | - | - |
DDX39B | p.F149Lfs*13 | Frame_Shift_Del | DEL | 0.475 | 2 | - | - |
DDX46 | p.R21Q | Missense | SNP | 0.500 | 2 | - | - |
DDX58 | p.N645Ifs*12 | Frame_Shift_Del | DEL | 0.308 | 2 | - | - |
DEFB104A | p.Q2* | Nonsense | SNP | 0.208 | ND | ND | - |
DENND5B | p.R1063W | Missense | SNP | 0.467 | 2 | - | - |
DGCR2 | p.D229N | Missense | SNP | 0.537 | 2 | - | - |
DGKQ | p.G435D | Missense | SNP | 0.408 | 2 | - | - |
DHDH | p.A173Gfs*33 | Frame_Shift_Ins | INS | 0.314 | 2 | - | - |
DHPS | - | - | - | - | 3 | Gain | - |
DHX37 | p.P872S | Missense | SNP | 0.427 | 2 | - | - |
DHX9 | p.V751I p.A1203T | Missense Missense | SNP SNP | 0.431 0.483 | 2 | - | - |
DNAH3 | p.P2853Hfs*2 p.G2194Efs*14 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.337 0.479 | 2 | - | - |
DNAH9 | p.A1945V | Missense | SNP | 0.477 | 2 | - | - |
DNAJA4 | p.M188Cfs*44 | Frame_Shift_Del | DEL | 0.507 | 2 | - | - |
DNAJB1 | p.A49T | Missense | SNP | 0.494 | 2 | - | - |
DOC2A | p.N210* | Frame_Shift_Ins | INS | 0.292 | 2 | - | - |
DOC2B | p.T129M | Missense | SNP | 0.450 | 2 | - | - |
DOCK10 | p.D375Ifs*8 | Frame_Shift_Del | DEL | 0.346 | 2 | - | - |
DOPEY1 | p.A2075V | Missense | SNP | 0.397 | ND | ND | - |
DSC3 | p.V264Wfs*17 | Frame_Shift_Del | DEL | 0.414 | 2 | - | - |
DSCAM | p.R284C | Missense | SNP | 0.442 | 2 | - | - |
DSEL | p.L1175I | Missense | SNP | 0.500 | 2 | - | - |
DUOX1 | p.R416H | Missense | SNP | 0.521 | 2 | - | - |
DUS4L | p.V30Sfs*16 | Frame_Shift_Del | DEL | 0.429 | 2 | - | - |
DYNC1H1 | p.R3191L | Missense | SNP | 0.061 | 2 | - | - |
EED | p.D32E | Missense | SNP | 0.482 | 2 | - | - |
EFNA3 | p.H65R | Missense | SNP | 0.414 | 2 | - | - |
EFNB3 | p.G279Vfs*15 | Frame_Shift_Del | DEL | 0.344 | 2 | - | - |
EGFL7 | p.A156T | Missense | SNP | 0.468 | 2 | - | - |
EHMT2 | p.P32A | Missense | SNP | 0.464 | 2 | - | - |
EIF3I | p.T112M | Missense | SNP | 0.496 | 2 | - | - |
EIF5B | p.K98Rfs*83 | Frame_Shift_Del | DEL | 0.294 | 2 | - | - |
ELANE | p.A40T p.F54L | Missense Missense | SNP SNP | 0.348 0.449 | 2 | - | - |
ELMSAN1 | p.T1025Qfs*68 | Frame_Shift_Del | DEL | 0.384 | 2 | - | - |
ELN | p.Q634R | Missense | SNP | 0.456 | 2 | - | - |
EMC1 | p.F608Lfs*7 | Frame_Shift_Del | DEL | 0.393 | 2 | - | - |
EML4 | p.A639Rfs*37 | Frame_Shift_Del | DEL | 0.423 | 2 | - | - |
EMX2 | p.A160S | Missense | SNP | 0.374 | 2 | - | - |
EP300 | p.H2324Pfs*55 | Frame_Shift_Ins | INS | 0.311 | 2 | - | - |
EPB41L2 | p.A133T | Missense | SNP | 0.548 | 2 | - | - |
EPB41L3 | p.R442H | Missense | SNP | 0.440 | 2 | - | - |
EPB41L4B | p.P37Hfs*61 | Frame_Shift_Del | DEL | 0.480 | 2 | - | - |
EPHB1 | p.Y134Tfs*4 | Frame_Shift_Del | DEL | 0.454 | 2 | - | - |
EPHB2 | p.K1020Rfs*63 | Frame_Shift_Del | DEL | 0.351 | 2 | - | - |
EPHB3 | p.P8S | Missense | SNP | 0.382 | 2 | - | - |
EPHB6 | p.E431* | Nonsense | SNP | 0.479 | 2 | - | - |
EPS15L1 | p.S850del | In_Frame_Del | DEL | 0.489 | 2 | - | - |
EQTN | p.N123Ifs*16 | Frame_Shift_Del | DEL | 0.412 | 2 | - | - |
ERVV-1 | p.N263Ifs*11 | Frame_Shift_Del | DEL | 0.272 | 3 | Gain | - |
ERVV-2 | - | - | - | - | 3 | Gain | - |
ESPNL | p.V650Cfs*35 | Frame_Shift_Del | DEL | 0.386 | 2 | - | - |
ESRRG | p.L463Ffs*38 | Frame_Shift_Ins | INS | 0.341 | 2 | - | - |
ESYT2 | p.X415_splice | Splice_Site | SNP | 0.558 | 2 | - | - |
EVA1A | p.S77Qfs*12 | Frame_Shift_Del | DEL | 0.488 | 2 | - | - |
EVC2 | p.R66Q | Missense | SNP | 0.437 | 2 | - | - |
EVI2B | p.S21Qfs*92 | Frame_Shift_Del | DEL | 0.479 | 2 | - | - |
EXOC3 | p.A492V | Missense | SNP | 0.433 | 2 | - | - |
EXOC3L1 | p.L237Pfs*55 | Frame_Shift_Ins | INS | 0.305 | 2 | - | - |
EXOC4 | - | - | - | - | 1 | Loss | - |
EXOSC8 | p.V58I | Missense | SNP | 0.488 | 2 | - | - |
FAF1 | p.I409M | Missense | SNP | 0.486 | 2 | - | - |
FAM120AOS | p.K228Rfs*22 | Frame_Shift_Del | DEL | 0.485 | 2 | - | - |
FAM135A | p.A1176V | Missense | SNP | 0.453 | 2 | - | - |
FAM193A | p.V231Sfs*81 | Frame_Shift_Del | DEL | 0.432 | 2 | - | - |
FAM210A | p.E110Gfs*4 | Frame_Shift_Ins | INS | 0.356 | 2 | - | - |
FAM35A | p.I39Ffs*12 | Frame_Shift_Del | DEL | 0.491 | ND | ND | - |
FANCE | p.V311Sfs*2 | Frame_Shift_Ins | INS | 0.277 | 2 | - | - |
FASTKD1 | p.T4Hfs*5 | Frame_Shift_Del | DEL | 0.382 | 2 | - | - |
FASTKD5 | p.Q574Sfs*7 | Frame_Shift_Del | DEL | 0.469 | 2 | - | - |
FAT1 | p.R3053C | Missense | SNP | 0.351 | 2 | - | - |
FAT4 | p.V3317A p.P4938T | Missense Missense | SNP SNP | 0.594 0.171 | 2 | - | - |
FBL | p.V308A | Missense | SNP | 0.515 | 2 | - | - |
FBN1 | p.T2383A | Missense | SNP | 0.548 | 2 | - | - |
FBN2 | p.F2554Lfs*57 | Frame_Shift_Del | DEL | 0.544 | 2 | - | - |
FBXL15 | p.A282S | Missense | SNP | 0.543 | 2 | - | - |
FBXO28 | p.R325* | Nonsense | SNP | 0.477 | 2 | - | - |
FBXW9 | - | - | - | - | 3 | Gain | - |
FCAMR | p.P477H | Missense | SNP | 0.486 | 2 | - | - |
FCER1A | p.N55I | Missense | SNP | 0.528 | 2 | - | - |
FCN2 | - | - | - | - | 1 | Loss | - |
FCRL6 | p.F61I | Missense | SNP | 0.527 | 2 | - | - |
FGB | p.M403T | Missense | SNP | 0.457 | 2 | - | - |
FGF14 | p.T126Qfs*5 | Frame_Shift_Del | DEL | 0.638 | 2 | - | - |
FGL2 | - | - | - | - | 1 | Loss | - |
FKRP | - | - | - | - | 3 | Gain | - |
FLT4 | p.E951del p.A491V | In_Frame_Del Missense | DEL SNP | 0.477 0.111 | 2 | - | - |
FPR3 | p.R137H | Missense | SNP | 0.524 | 2 | - | - |
FSCN2 | p.L59R | Missense | SNP | 0.521 | 2 | - | - |
FSIP2 | p.V6543Wfs*4 | Frame_Shift_Del | DEL | 0.556 | 2 | - | - |
FZD3 | p.H512Mfs*8 | Frame_Shift_Del | DEL | 0.111 | 2 | - | - |
GABRA4 | p.R485M | Missense | SNP | 0.555 | 2 | - | - |
GABRB3 | p.G6Efs*23 | Frame_Shift_Del | DEL | 0.496 | 2 | - | - |
GALNT3 | p.P78R | Missense | SNP | 0.540 | 2 | - | - |
GANAB | p.R837* | Nonsense | SNP | 0.153 | 2 | - | - |
GBE1 | p.R679C | Missense | SNP | 0.375 | 2 | - | - |
GFPT1 | p.Y129H | Missense | SNP | 0.435 | 2 | - | - |
GIGYF2 | p.R291* | Nonsense | SNP | 0.517 | 2 | - | - |
GIMAP4 | p.E230A | Missense | SNP | 0.584 | 2 | - | - |
GINS1 | p.N172Ifs*14 | Frame_Shift_Del | DEL | 0.478 | 2 | - | - |
GLI1 | p.G274Afs*6 | Frame_Shift_Del | DEL | 0.429 | 2 | - | - |
GNAI1 | - | - | - | - | 1 | Loss | - |
GNAT3 | - | - | - | - | 1 | Loss | - |
GNG8 | - | - | - | - | 3 | Gain | - |
GOLGA4 | p.T469Qfs*13 | Frame_Shift_Del | DEL | 0.373 | 2 | - | - |
GPATCH1 | p.A740Rfs*4 | Frame_Shift_Ins | INS | 0.323 | 2 | - | - |
GPR135 | p.A58T | Missense | SNP | 0.508 | 2 | - | - |
GPR161 | p.G517Afs*13 | Frame_Shift_Del | DEL | 0.462 | 2 | - | - |
GPR26 | p.S155T | Missense | SNP | 0.480 | 2 | - | - |
GPR50 | p.A278T | Missense | SNP | 1.000 | ND | ND | - |
GREB1 | p.S877N | Missense | SNP | 0.470 | 2 | - | - |
GRIN3B | p.K738Sfs*25 | Frame_Shift_Del | DEL | 0.290 | 2 | - | - |
GRM1 | p.F9Sfs*119 | Frame_Shift_Del | DEL | 0.507 | 2 | - | - |
GSAP | - | - | - | - | 1 | Loss | - |
GSDMD | p.S46R | Missense | SNP | 0.511 | 2 | - | - |
GSE1 | p.R369C | Missense | SNP | 0.539 | 2 | - | - |
GTF2IRD1 | p.S282T | Missense | SNP | 0.551 | 2 | - | - |
GTSE1 | p.P177Lfs*136 | Frame_Shift_Del | DEL | 0.458 | 2 | - | - |
H6PD | p.E108D | Missense | SNP | 0.457 | 2 | - | - |
HAS1 | p.A225V | Missense | SNP | 0.387 | 2 | - | - |
HCFC1 | p.V88M | Missense | SNP | 0.092 | ND | ND | - |
HCK | p.R213Efs*77 | Frame_Shift_Del | DEL | 0.475 | 2 | - | - |
HECTD4 | p.A4191T | Missense | SNP | 0.465 | 2 | - | - |
HELZ | p.F788Lfs*6 | Frame_Shift_Del | DEL | 0.562 | 2 | - | - |
HELZ2 | p.T1904M | Missense | SNP | 0.331 | 2 | - | - |
HES3 | p.D183Mfs*3 | Frame_Shift_Del | DEL | 0.349 | 2 | - | - |
HEY1 | p.T303R | Missense | SNP | 0.458 | 2 | - | - |
HEY2 | p.T228M | Missense | SNP | 0.439 | 2 | - | - |
HGF | - | - | - | - | 1 | Loss | - |
HHLA2 | p.A104V | Missense | SNP | 0.118 | 2 | - | - |
HID1 | p.L480Sfs*22 | Frame_Shift_Del | DEL | 0.504 | 2 | - | - |
HIST1H2AA | p.R72H | Missense | SNP | 0.483 | 2 | - | - |
HK1 | p.A565V | Missense | SNP | 0.394 | 2 | - | - |
HLA-E | p.A232V | Missense | SNP | 0.275 | 2 | - | - |
HN1 | p.R155C | Missense | SNP | 0.535 | ND | ND | - |
HNRNPL | p.P337Hfs*58 | Frame_Shift_Del | DEL | 0.497 | 2 | - | - |
HRG | p.R201W | Missense | SNP | 0.407 | 2 | - | - |
HS3ST3A1 | p.F271V | Missense | SNP | 0.394 | 2 | - | - |
HSPG2 | p.P3283S | Missense | SNP | 0.491 | 2 | - | - |
ICAM5 | p.G308Afs*10 | Frame_Shift_Del | DEL | 0.421 | 2 | - | - |
IFI16 | p.I227* | Frame_Shift_Del | DEL | 0.405 | 2 | - | - |
IFI27L2 | p.A8V | Missense | SNP | 0.369 | 2 | - | - |
IFNL3 | p.T101M | Missense | SNP | 0.453 | 2 | - | - |
IGF2R | p.N543Mfs*14 | Frame_Shift_Del | DEL | 0.533 | 2 | - | - |
IGSF11 | - | - | - | - | 3 | Gain | - |
IGSF21 | p.P35Lfs*8 | Frame_Shift_Del | DEL | 0.545 | 2 | - | - |
IGSF9 | p.S487N | Missense | SNP | 0.475 | 2 | - | - |
IKBKB | p.G558Efs*6 | Frame_Shift_Del | DEL | 0.516 | 2 | - | - |
IL12RB2 | p.K768N | Missense | SNP | 0.141 | 2 | - | - |
INCENP | p.L684P | Missense | SNP | 0.463 | 2 | - | - |
INF2 | p.R622Gfs*18 | Frame_Shift_Del | DEL | 0.415 | 2 | - | - |
ING1 | - | - | - | - | 1 | Loss | - |
INO80D | p.M514Nfs*3 | Frame_Shift_Ins | INS | 0.363 | 2 | - | - |
INPPL1 | p.P976Hfs*155 | Frame_Shift_Del | DEL | 0.427 | 2 | - | - |
INTS1 | p.L1501Sfs*28 | Frame_Shift_Del | DEL | 0.485 | 2 | - | - |
IREB2 | p.P890Q | Missense | SNP | 0.593 | 2 | - | - |
IRF1 | p.T76Dfs*57 | Frame_Shift_Ins | INS | 0.288 | 2 | - | - |
IRF2BP1 | p.A537V | Missense | SNP | 0.101 | 2 | - | - |
IRF2BPL | p.E87del | In_Frame_Del | DEL | 0.230 | 2 | - | - |
ITFG1 | - | - | - | - | 1 | Loss | - |
ITGB5 | p.P246H | Missense | SNP | 0.494 | 2 | - | - |
ITPR3 | p.R1578Afs*29 | Frame_Shift_Del | DEL | 0.468 | 2 | - | - |
IVD | p.T6A | Missense | SNP | 0.153 | 2 | - | - |
IZUMO4 | p.K28del | In_Frame_Del | DEL | 0.431 | 2 | - | - |
JADE3 | p.V205M | Missense | SNP | 1.000 | ND | ND | - |
JAM3 | p.V140M | Missense | SNP | 0.489 | 2 | - | - |
JMJD1C | p.A1746T | Missense | SNP | 0.411 | 2 | - | - |
KANSL1 | p.G260Vfs*19 | Frame_Shift_Del | DEL | 0.306 | 2 | - | - |
KCNA6 | p.V458I | Missense | SNP | 0.423 | 2 | - | - |
KCND2 | p.R432M | Missense | SNP | 0.538 | 2 | - | - |
KCNG1 | p.R182W p.V110I | Missense Missense | SNP SNP | 0.472 0.446 | 2 | - | - |
KCNH1 | p.I494T | Missense | SNP | 0.423 | 2 | - | - |
KCNH2 | p.I711T | Missense | SNP | 0.515 | 2 | - | - |
KCNV2 | p.V190M p.A342V | Missense Missense | SNP SNP | 0.463 0.464 | 2 | - | - |
KCTD16 | p.R360W | Missense | SNP | 0.483 | 2 | - | - |
KDM4E | p.Y60C | Missense | SNP | 0.520 | 2 | - | - |
KDM5A | p.G8Afs*58 | Frame_Shift_Del | DEL | 0.116 | 2 | - | - |
KIAA0232 | p.R1088K | Missense | SNP | 0.528 | 2 | - | - |
KIAA1107 | p.S1335Pfs*? | Frame_Shift_Del | DEL | 0.453 | ND | ND | - |
KIAA1683 | p.P184T | Missense | SNP | 0.451 | ND | ND | - |
KIF12 | - | - | - | - | 1 | Loss | - |
KIF1A | p.R985C | Missense | SNP | 0.513 | 2 | - | - |
KIF26A | p.L1096Wfs*152 | Frame_Shift_Del | DEL | 0.073 | 2 | - | - |
KIF7 | p.R927W | Missense | SNP | 0.372 | 2 | - | - |
KIFC2 | p.Q303* | Nonsense | SNP | 0.423 | 2 | - | - |
KISS1R | p.S197Qfs*47 p.A42D | Frame_Shift_Ins Missense | INS SNP | 0.327 0.509 | 2 | - | - |
KLC2 | p.G500D | Missense | SNP | 0.510 | 2 | - | - |
KLHDC1 | - | - | - | - | 1 | Loss | - |
KLHDC8B | p.M17Cfs*59 | Frame_Shift_Del | DEL | 0.421 | 2 | - | - |
KLHL36 | p.V282I | Missense | SNP | 0.451 | 2 | - | - |
KMT2B | p.E2599Rfs*15 | Frame_Shift_Del | DEL | 0.442 | 2 | - | - |
KMT2C | p.K4507N | Missense | SNP | 0.408 | 2 | - | - |
KMT2D | p.C2436Afs*49 | Frame_Shift_Del | DEL | 0.438 | 2 | - | - |
KNTC1 | p.K1646Nfs*2 | Frame_Shift_Del | DEL | 0.124 | 2 | - | - |
KRT10 | p.S563G | Missense | SNP | 0.513 | 2 | - | - |
KRT81 | p.P20A | Missense | SNP | 0.493 | 2 | - | - |
LAMA2 | p.P3083L | Missense | SNP | 0.431 | 2 | - | - |
LAMA5 | p.R3550W | Missense | SNP | 0.439 | 2 | - | - |
LAMC2 | p.P577H | Missense | SNP | 0.424 | 2 | - | - |
LAT | p.L189P | Missense | SNP | 0.493 | 2 | - | - |
LCMT2 | p.Y56H | Missense | SNP | 0.448 | 2 | - | - |
LDHA | p.A176T | Missense | SNP | 0.373 | 2 | - | - |
LDLRAD2 | p.L130Q | Missense | SNP | 0.535 | 2 | - | - |
LEMD1 | p.K37Sfs*2 | Frame_Shift_Del | DEL | 0.456 | 2 | - | - |
LIG3 | p.Q287Rfs*19 | Frame_Shift_Del | DEL | 0.413 | 2 | - | - |
LILRA1 | p.V45M | Missense | SNP | 0.369 | 2 | - | - |
LIN7B | p.A2V | Missense | SNP | 0.506 | 2 | - | - |
LINGO2 | p.A50V | Missense | SNP | 0.075 | 2 | - | - |
LIPK | p.K191Rfs*21 | Frame_Shift_Del | DEL | 0.476 | 2 | - | - |
LKAAEAR1 | p.T225M | Missense | SNP | 0.103 | 2 | - | - |
LLGL1 | p.L449P | Missense | SNP | 0.475 | 2 | - | - |
LMAN1 | p.E305Rfs*22 | Frame_Shift_Del | DEL | 0.762 | 2 | - | - |
LRFN2 | p.I320Sfs*4 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
LRG1 | p.G182Rfs*13 | Frame_Shift_Ins | INS | 0.322 | 2 | - | - |
LRIT3 | p.T571A | Missense | SNP | 0.461 | 2 | - | - |
LRP2 | p.F1211Lfs*89 p.R2262C | Frame_Shift_Del Missense | DEL SNP | 0.449 0.410 | 2 | - | - |
LRRC30 | p.F183Lfs*20 | Frame_Shift_Del | DEL | 0.451 | 2 | - | - |
LRRC37A2 | p.R1172K | Missense | SNP | 0.284 | 2 | - | - |
LRRC63 | p.L75Ffs*10 | Frame_Shift_Ins | INS | 0.312 | 2 | - | - |
LRRC8E | p.A306Gfs*53 | Frame_Shift_Ins | INS | 0.311 | 2 | - | - |
LRRIQ1 | p.K490Nfs*28 | Frame_Shift_Del | DEL | 0.677 | 2 | - | - |
LRRK1 | p.R1293W | Missense | SNP | 0.443 | 2 | - | - |
LRRN4 | p.L266F | Missense | SNP | 0.527 | 2 | - | - |
LRRTM1 | p.Q515H | Missense | SNP | 0.507 | 2 | - | - |
LSP1 | p.Q236Sfs*31 | Frame_Shift_Del | DEL | 0.461 | 2 | - | - |
LUC7L3 | p.R330Q | Missense | SNP | 0.396 | 2 | - | - |
LYPLA2 | p.A166Pfs*28 | Frame_Shift_Del | DEL | 0.478 | 2 | - | - |
LYSMD3 | p.S285N | Missense | SNP | 0.412 | 2 | - | - |
LYST | p.E1441Vfs*12 | Frame_Shift_Del | DEL | 0.480 | 2 | - | - |
LZTR1 | p.C106R | Missense | SNP | 0.440 | 2 | - | - |
M6PR | p.G125Vfs*17 | Frame_Shift_Del | DEL | 0.371 | 2 | - | - |
MAFF | p.R57H | Missense | SNP | 0.471 | 2 | - | - |
MAGI2 | - | - | - | - | 1 | Loss | - |
MALL | p.A47T | Missense | SNP | 0.229 | 2 | - | - |
MAN1A1 | p.S66Y | Missense | SNP | 0.487 | 2 | - | - |
MAN2B1 | - | - | - | - | 3 | Gain | - |
MAP3K11 | p.G23Vfs*40 | Frame_Shift_Del | DEL | 0.442 | 2 | - | - |
MAP3K4 | p.N160Mfs*8 | Frame_Shift_Del | DEL | 0.124 | 2 | - | - |
MASTL | p.S716L | Missense | SNP | 0.522 | 2 | - | - |
MATN3 | p.T387Hfs*10 | Frame_Shift_Del | DEL | 0.464 | 2 | - | - |
MBD3 | p.D269V | Missense | SNP | 0.473 | 2 | - | - |
MBD6 | p.P334Hfs*43 | Frame_Shift_Del | DEL | 0.478 | 2 | - | - |
MBOAT4 | p.G272Wfs*3 | Frame_Shift_Ins | INS | 0.289 | 2 | - | - |
MCM7 | p.G360R | Missense | SNP | 0.105 | 2 | - | - |
MCPH1 | p.T468Pfs*32 | Frame_Shift_Del | DEL | 0.549 | 2 | - | - |
MDH1B | p.R274Tfs*16 | Frame_Shift_Ins | INS | 0.293 | 2 | - | - |
MED26 | p.A502T | Missense | SNP | 0.439 | 2 | - | - |
MEGF8 | p.T1670Qfs*60 | Frame_Shift_Del | DEL | 0.268 | 2 | - | - |
MEN1 | p.P475L | Missense | SNP | 0.511 | 2 | - | - |
MEPCE | p.L230P | Missense | SNP | 0.568 | 2 | - | - |
MFSD14A | p.L269Yfs*6 | Frame_Shift_Del | DEL | 0.676 | 2 | - | - |
MFSD4B | p.C202Vfs*4 | Frame_Shift_Del | DEL | 0.580 | 2 | - | - |
MGA | p.Q1292R | Missense | SNP | 0.416 | 2 | - | - |
MIB2 | p.Q573R | Missense | SNP | 0.507 | 2 | - | - |
MICALL2 | p.I4T | Missense | SNP | 0.510 | 2 | - | - |
MIS18BP1 | p.S690Vfs*10 | Frame_Shift_Del | DEL | 0.663 | 2 | - | - |
MIXL1 | p.P33Rfs*147 | Frame_Shift_Del | DEL | 0.467 | 2 | - | - |
MKL2 | p.K216R | Missense | SNP | 0.475 | ND | ND | - |
MLC1 | p.G88C | Missense | SNP | 0.496 | 2 | - | - |
MLH1 | p.Y97* | Nonsense | SNP | 1.000 | 2 | - | - |
MN1 | p.D914Tfs*40 | Frame_Shift_Del | DEL | 0.477 | 2 | - | - |
MNS1 | p.K202Sfs*9 | Frame_Shift_Del | DEL | 0.848 | 2 | - | - |
MOV10L1 | p.H882R | Missense | SNP | 0.546 | 2 | - | - |
MRPS16 | p.P58S | Missense | SNP | 0.503 | 2 | - | - |
MSH5 | p.L336P | Missense | SNP | 0.441 | 2 | - | - |
MST1R | p.R1289G | Missense | SNP | 0.482 | 2 | - | - |
MTTP | p.E872K | Missense | SNP | 0.415 | 2 | - | - |
MUC4 | p.N4902Tfs*8 | Frame_Shift_Del | DEL | 0.459 | 2 | - | - |
MYBPH | p.D240N | Missense | SNP | 0.093 | 2 | - | - |
MYCT1 | p.R127H | Missense | SNP | 0.509 | 2 | - | - |
MYEF2 | p.A2V | Missense | SNP | 0.455 | 2 | - | - |
MYH10 | p.A1845S | Missense | SNP | 0.475 | 2 | - | - |
MYH15 | p.N897Mfs*3 | Frame_Shift_Del | DEL | 0.443 | 2 | - | - |
MYH6 | p.K1326N | Missense | SNP | 0.134 | 2 | - | - |
MYLK | p.R876H | Missense | SNP | 0.509 | 2 | - | - |
MYO9A | p.I769T | Missense | SNP | 0.432 | 2 | - | - |
MYOD1 | p.V11I | Missense | SNP | 0.466 | 2 | - | - |
MYOM1 | p.K1060T | Missense | SNP | 0.546 | 2 | - | - |
MYOM2 | p.T776M | Missense | SNP | 0.430 | 2 | - | - |
MYRF | p.X922_splice | Splice_Site | SNP | 0.503 | 2 | - | - |
NAA11 | p.Q153* | Nonsense | SNP | 0.453 | 2 | - | - |
NAALADL1 | p.R370Gfs*79 | Frame_Shift_Del | DEL | 0.475 | 2 | - | - |
NACAD | p.A214Pfs*92 | Frame_Shift_Del | DEL | 0.461 | 2 | - | - |
NAXD | - | - | - | - | 1 | Loss | - |
NBEAL1 | p.E136Rfs*14 | Frame_Shift_Del | DEL | 0.447 | 2 | - | - |
NCAN | p.P386Qfs*32 | Frame_Shift_Del | DEL | 0.479 | 2 | - | - |
NCAPD3 | p.Q909Rfs*10 | Frame_Shift_Del | DEL | 0.411 | 2 | - | - |
NCAPG | p.S595N | Missense | SNP | 0.493 | 2 | - | - |
NCK2 | p.K134N | Missense | SNP | 0.524 | 2 | - | - |
NCOR2 | p.R1060Vfs*3 | Frame_Shift_Del | DEL | 0.463 | 2 | - | - |
NDE1 | p.T243Pfs*115 | Frame_Shift_Del | DEL | 0.464 | 2 | - | - |
NDUFC2 | p.F69Lfs*7 | Frame_Shift_Del | DEL | 0.440 | 2 | - | - |
NEB | p.T2632A | Missense | SNP | 0.502 | 2 | - | - |
NEDD1 | p.I279Yfs*6 | Frame_Shift_Del | DEL | 0.397 | 2 | - | - |
NEIL3 | p.F577Lfs*23 | Frame_Shift_Del | DEL | 0.446 | 2 | - | - |
NEK9 | p.G193A | Missense | SNP | 0.391 | 2 | - | - |
NEUROD6 | p.K83Rfs*35 | Frame_Shift_Del | DEL | 0.584 | 2 | - | - |
NFATC2 | p.L75P | Missense | SNP | 0.538 | 2 | - | - |
NHP2 | p.P37S | Missense | SNP | 0.087 | 2 | - | - |
NIPAL1 | p.D206Pfs*56 | Frame_Shift_Del | DEL | 0.456 | 2 | - | - |
NKX2-5 | p.A108T | Missense | SNP | 0.487 | 2 | - | - |
NLRP12 | p.V731* | Frame_Shift_Del | DEL | 0.455 | 2 | - | - |
NLRP13 | p.G530Vfs*8 | Frame_Shift_Del | DEL | 0.329 | 2 | - | - |
NMRK2 | p.G148Afs*31 | Frame_Shift_Del | DEL | 0.493 | 2 | - | - |
NOBOX | p.C497Vfs*53 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
NOL4L | p.E214del | In_Frame_Del | DEL | 0.465 | 2 | - | - |
NOLC1 | p.D89E | Missense | SNP | 0.451 | 2 | - | - |
NOS3 | p.G440Lfs*57 | Frame_Shift_Del | DEL | 0.454 | 2 | - | - |
NOTCH3 | p.C1488* | Nonsense | SNP | 0.504 | 2 | - | - |
NOX1 | p.M319T | Missense | SNP | 1.000 | ND | ND | - |
NOX5 | p.P498S | Missense | SNP | 0.401 | 2 | - | - |
NPAP1 | p.G894* | Nonsense | SNP | 0.456 | 2 | - | - |
NPC1 | p.V1165M | Missense | SNP | 0.458 | 2 | - | - |
NPDC1 | p.P145H | Missense | SNP | 0.487 | 2 | - | - |
NR2C1 | p.P66Q | Missense | SNP | 0.273 | 2 | - | - |
NR2F6 | p.Q249R | Missense | SNP | 0.528 | 2 | - | - |
NRROS | p.G402D | Missense | SNP | 0.521 | 2 | - | - |
NSMF | p.X129_splice | Splice_Site | SNP | 0.473 | 2 | - | - |
NSUN2 | p.E17D | Missense | SNP | 0.506 | 2 | - | - |
NUBP2 | p.T133M | Missense | SNP | 0.111 | 2 | - | - |
NUDT16 | p.S17L | Missense | SNP | 0.550 | 2 | - | - |
NUDT2 | p.A147T | Missense | SNP | 0.464 | 2 | - | - |
NUP214 | p.V228Sfs*29 | Frame_Shift_Del | DEL | 0.324 | 2 | - | - |
NUPL2 | p.G71Afs*51 | Frame_Shift_Del | DEL | 0.105 | 2 | - | - |
NUTM2A | p.R499S | Missense | SNP | 0.136 | 2 | - | - |
NXPE3 | p.A486T | Missense | SNP | 0.460 | 2 | - | - |
NXPH2 | p.T194Qfs*87 | Frame_Shift_Del | DEL | 0.469 | 2 | - | - |
OCA2 | p.K614Sfs*14 | Frame_Shift_Del | DEL | 0.556 | 2 | - | - |
ODF2 | p.X512_splice | Splice_Site | SNP | 0.425 | 2 | - | - |
OLFM2 | p.A428T | Missense | SNP | 0.262 | 2 | - | - |
OMD | p.R46C | Missense | SNP | 0.103 | 2 | - | - |
OPN4 | p.R278W | Missense | SNP | 0.472 | 2 | - | - |
OR10K1 | p.R122H | Missense | SNP | 0.380 | 2 | - | - |
OR14C36 | p.F105Lfs*28 | Frame_Shift_Del | DEL | 0.525 | 2 | - | - |
OR2L8 | p.L300P | Missense | SNP | 0.469 | 2 | - | - |
OR2Y1 | p.Y277Ifs*3 | Frame_Shift_Del | DEL | 0.271 | 2 | - | - |
OR3A3 | p.V257A | Missense | SNP | 0.548 | 2 | - | - |
OR4D10 | p.M3V | Missense | SNP | 0.552 | 2 | - | - |
OR4S2 | p.G230C | Missense | SNP | 0.538 | 2 | - | - |
OR51M1 | p.R313C | Missense | SNP | 0.480 | 2 | - | - |
OR51Q1 | p.L164Ffs*30 | Frame_Shift_Ins | INS | 0.341 | 2 | - | - |
OR56B4 | p.G312* | Nonsense | SNP | 0.418 | 2 | - | - |
OR5T2 | p.M104I | Missense | SNP | 0.500 | 2 | - | - |
OR8J3 | p.V158A | Missense | SNP | 0.459 | 2 | - | - |
OSBPL1A | p.K894Nfs*71 | Frame_Shift_Del | DEL | 0.375 | 2 | - | - |
OTOA | p.Q89H | Missense | SNP | 0.380 | 2 | - | - |
OTOG | p.C2755* | Nonsense | SNP | 0.503 | 2 | - | - |
OTUD1 | p.I468T | Missense | SNP | 0.495 | 2 | - | - |
OTUD7A | p.T581M | Missense | SNP | 0.528 | 2 | - | - |
OVGP1 | p.V535G | Missense | SNP | 0.175 | 2 | - | - |
P2RX7 | p.R178Gfs*5 | Frame_Shift_Del | DEL | 0.470 | 2 | - | - |
P2RY6 | p.W135Gfs*12 | Frame_Shift_Del | DEL | 0.447 | 2 | - | - |
PAAF1 | p.E21Rfs*4 | Frame_Shift_Del | DEL | 0.584 | 2 | - | - |
PANK4 | p.D33Tfs*17 | Frame_Shift_Del | DEL | 0.393 | 2 | - | - |
PARP14 | p.N1322Ifs*26 | Frame_Shift_Del | DEL | 0.475 | 2 | - | - |
PBX2 | p.R246* | Nonsense | SNP | 0.480 | 2 | - | - |
PC | p.F959Sfs*10 | Frame_Shift_Del | DEL | 0.450 | 2 | - | - |
PCCA | p.G721V | Missense | SNP | 0.456 | 2 | - | - |
PCCB | p.N498K | Missense | SNP | 0.497 | 2 | - | - |
PCDH7 | p.K471R | Missense | SNP | 0.491 | 2 | - | - |
PCDHA1 | - | - | - | - | 3 | Gain | - |
PCDHA10 | - | - | - | - | 3 | Gain | - |
PCDHA11 | - | - | - | - | 3 | Gain | - |
PCDHA12 | - | - | - | - | 3 | Gain | - |
PCDHA13 | - | - | - | - | 3 | Gain | - |
PCDHA2 | - | - | - | - | 3 | Gain | - |
PCDHA3 | - | - | - | - | 3 | Gain | - |
PCDHA4 | - | - | - | - | 3 | Gain | - |
PCDHA5 | - | - | - | - | 3 | Gain | - |
PCDHA6 | - | - | - | - | 3 | Gain | - |
PCDHA7 | - | - | - | - | 3 | Gain | - |
PCDHA8 | p.R497W | Missense | SNP | 0.476 | 3 | Gain | - |
PCDHA9 | - | - | - | - | 3 | Gain | - |
PCDHAC1 | - | - | - | - | 3 | Gain | - |
PCDHAC2 | - | - | - | - | 3 | Gain | - |
PCDHB1 | - | - | - | - | 3 | Gain | - |
PCDHB10 | - | - | - | - | 3 | Gain | - |
PCDHB11 | - | - | - | - | 3 | Gain | - |
PCDHB12 | - | - | - | - | 3 | Gain | - |
PCDHB13 | p.K306Nfs*30 | Frame_Shift_Del | DEL | 0.308 | 3 | Gain | - |
PCDHB14 | - | - | - | - | 3 | Gain | - |
PCDHB15 | - | - | - | - | 3 | Gain | - |
PCDHB16 | - | - | - | - | 3 | Gain | - |
PCDHB2 | - | - | - | - | 3 | Gain | - |
PCDHB3 | - | - | - | - | 3 | Gain | - |
PCDHB4 | - | - | - | - | 3 | Gain | - |
PCDHB5 | - | - | - | - | 3 | Gain | - |
PCDHB6 | - | - | - | - | 3 | Gain | - |
PCDHB7 | - | - | - | - | 3 | Gain | - |
PCDHB8 | - | - | - | - | 3 | Gain | - |
PCDHB9 | - | - | - | - | 3 | Gain | - |
PCDHGA1 | - | - | - | - | 3 | Gain | - |
PCDHGA10 | - | - | - | - | 3 | Gain | - |
PCDHGA11 | - | - | - | - | 3 | Gain | - |
PCDHGA12 | - | - | - | - | 3 | Gain | - |
PCDHGA2 | - | - | - | - | 3 | Gain | - |
PCDHGA3 | - | - | - | - | 3 | Gain | - |
PCDHGA4 | - | - | - | - | 3 | Gain | - |
PCDHGA5 | - | - | - | - | 3 | Gain | - |
PCDHGA6 | - | - | - | - | 3 | Gain | - |
PCDHGA7 | - | - | - | - | 3 | Gain | - |
PCDHGA8 | - | - | - | - | 3 | Gain | - |
PCDHGA9 | - | - | - | - | 3 | Gain | - |
PCDHGB1 | - | - | - | - | 3 | Gain | - |
PCDHGB2 | - | - | - | - | 3 | Gain | - |
PCDHGB3 | - | - | - | - | 3 | Gain | - |
PCDHGB4 | - | - | - | - | 3 | Gain | - |
PCDHGB5 | - | - | - | - | 3 | Gain | - |
PCDHGB6 | - | - | - | - | 3 | Gain | - |
PCDHGB7 | - | - | - | - | 3 | Gain | - |
PCDHGC3 | - | - | - | - | 3 | Gain | - |
PCLO | p.V783Sfs*6 | Frame_Shift_Ins | INS | 0.283 | 1 | Loss | - |
PCNX1 | p.R285Q | Missense | SNP | 0.328 | 2 | - | - |
PGF | p.X25_splice | Splice_Site | SNP | 0.552 | 2 | - | - |
PGLYRP2 | p.X21_splice | Splice_Site | SNP | 0.427 | 2 | - | - |
PHACTR4 | p.S64Vfs*12 | Frame_Shift_Del | DEL | 0.820 | 2 | - | - |
PHF14 | p.C339Y | Missense | SNP | 0.479 | 2 | - | - |
PHF2 | p.K492Rfs*6 | Frame_Shift_Del | DEL | 0.504 | 2 | - | - |
PHKB | - | - | - | - | 1 | Loss | - |
PHLDA1 | p.G259C | Missense | SNP | 0.460 | 2 | - | - |
PHLDB1 | p.T1015Rfs*21 | Frame_Shift_Del | DEL | 0.471 | 2 | - | - |
PHTF2 | - | - | - | - | 1 | Loss | - |
PIGB | p.F280Lfs*12 | Frame_Shift_Del | DEL | 0.463 | 2 | - | - |
PIK3C2B | p.R287Afs*92 | Frame_Shift_Del | DEL | 0.402 | 2 | - | - |
PIK3R1 | p.K379E | Missense | SNP | 0.404 | 2 | - | - |
PKD2 | p.E890D | Missense | SNP | 0.542 | 2 | - | - |
PKDREJ | p.A2174G | Missense | SNP | 0.073 | 2 | - | - |
PKHD1L1 | p.V2164D | Missense | SNP | 0.509 | 2 | - | - |
PKM | p.R516C | Missense | SNP | 0.427 | 2 | - | - |
PKN1 | p.V697M | Missense | SNP | 0.436 | 2 | - | - |
PLA2G4E | p.I748T | Missense | SNP | 0.457 | 2 | - | - |
PLAU | p.V408I | Missense | SNP | 0.528 | 2 | - | - |
PLCL1 | p.T57I | Missense | SNP | 0.451 | 2 | - | - |
PLEKHG3 | p.R1014H | Missense | SNP | 0.390 | 2 | - | - |
PLEKHH3 | p.V192Wfs*6 | Frame_Shift_Del | DEL | 0.401 | 2 | - | - |
PLXNA2 | p.H465Mfs*57 p.A32Sfs*13 | Frame_Shift_Del Frame_Shift_Ins | DEL INS | 0.061 0.301 | 2 | - | - |
PLXNA3 | p.A584T | Missense | SNP | 1.000 | ND | ND | - |
PMM2 | p.G169Afs*6 | Frame_Shift_Del | DEL | 0.467 | 2 | - | - |
PNISR | p.P104Lfs*58 | Frame_Shift_Del | DEL | 0.461 | 2 | - | - |
POLD2 | p.T258M | Missense | SNP | 0.478 | 2 | - | - |
POLD3 | p.R300Gfs*5 | Frame_Shift_Del | DEL | 0.494 | 2 | - | - |
POLE | p.T1104M | Missense | SNP | 0.407 | 2 | - | - |
POLE2 | - | - | - | - | 1 | Loss | - |
POLG | p.Q43R | Missense | SNP | 0.455 | 2 | - | - |
POLM | p.P97Qfs*6 | Frame_Shift_Del | DEL | 0.463 | 2 | - | - |
POTEE | p.L810* | Frame_Shift_Del | DEL | 0.473 | 2 | - | - |
POU4F3 | p.R278C | Missense | SNP | 0.291 | 2 | - | - |
PPA2 | p.D211N | Missense | SNP | 0.466 | 2 | - | - |
PPARA | p.F351L | Missense | SNP | 0.482 | 2 | - | - |
PPFIA3 | p.A325T | Missense | SNP | 0.454 | 2 | - | - |
PPP1R3F | p.S785P | Missense | SNP | 1.000 | ND | ND | - |
PPP1R9B | p.P279Rfs*40 | Frame_Shift_Del | DEL | 0.474 | 2 | - | - |
PPP2R1A | - | - | - | - | 3 | Gain | - |
PPP2R3C | p.S23Vfs*5 | Frame_Shift_Del | DEL | 0.415 | 2 | - | - |
PRAM1 | p.E585Gfs*15 | Frame_Shift_Ins | INS | 0.328 | 2 | - | - |
PRCP | p.L345Q | Missense | SNP | 0.438 | 2 | - | - |
PRDM2 | p.S1052Lfs*45 p.V1490Ffs*74 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.422 0.422 | 2 | - | - |
PRKACG | p.G32Efs*27 | Frame_Shift_Del | DEL | 0.481 | 2 | - | - |
PRKD2 | - | - | - | - | 3 | Gain | - |
PRMT7 | p.H176Pfs*40 | Frame_Shift_Ins | INS | 0.312 | 2 | - | - |
PRPF40A | p.R865* | Nonsense | SNP | 0.406 | 2 | - | - |
PRTG | p.D833E | Missense | SNP | 0.375 | 2 | - | - |
PSMC4 | p.I375F | Missense | SNP | 0.110 | 2 | - | - |
PSME4 | p.T1805Pfs*69 | Frame_Shift_Del | DEL | 0.468 | 2 | - | - |
PSTPIP1 | p.A280Lfs*16 | Frame_Shift_Del | DEL | 0.397 | 2 | - | - |
PTEN | p.E157Gfs*23 p.K267Rfs*9 | Frame_Shift_Ins Frame_Shift_Del | INS DEL | 0.320 0.494 | 2 | - | - |
PTGIR | - | - | - | - | 3 | Gain | - |
PTN | p.V42* | Frame_Shift_Del | DEL | 0.312 | 2 | - | - |
PTPN12 | - | - | - | - | 1 | Loss | - |
PTPN5 | p.Y454C | Missense | SNP | 0.538 | 2 | - | - |
PTPRS | p.V1025Sfs*18 p.K1867N | Frame_Shift_Del Missense | DEL SNP | 0.470 0.540 | 2 | - | - |
PTPRT | p.P1094Rfs*6 p.R260Q | Frame_Shift_Del Missense | DEL SNP | 0.413 0.464 | 2 | - | - |
PWWP2B | p.R320L | Missense | SNP | 0.460 | 2 | - | - |
QKI | p.K134Rfs*14 | Frame_Shift_Del | DEL | 0.279 | 2 | - | - |
RAB20 | - | - | - | - | 1 | Loss | - |
RADIL | p.P881Lfs*110 | Frame_Shift_Del | DEL | 0.442 | 2 | - | - |
RALA | p.M35V | Missense | SNP | 0.527 | 2 | - | - |
RANBP6 | p.V9Gfs*34 | Frame_Shift_Ins | INS | 0.345 | 2 | - | - |
RANGAP1 | p.A355V | Missense | SNP | 0.457 | 2 | - | - |
RASSF9 | p.E87K | Missense | SNP | 0.583 | 2 | - | - |
RBM10 | p.E178G | Missense | SNP | 0.197 | ND | ND | - |
RBM27 | p.K816Nfs*5 | Frame_Shift_Del | DEL | 0.396 | 2 | - | - |
RBM33 | p.S739C | Missense | SNP | 0.533 | 2 | - | - |
RDX | p.P471Lfs*35 | Frame_Shift_Del | DEL | 0.434 | 2 | - | - |
REL | p.Q618Sfs*8 | Frame_Shift_Ins | INS | 0.216 | 2 | - | - |
RELB | p.R400H | Missense | SNP | 0.450 | 2 | - | - |
REPIN1 | p.S430Pfs*? | Frame_Shift_Del | DEL | 0.110 | 2 | - | - |
RGS12 | p.G1291Rfs*45 | Frame_Shift_Ins | INS | 0.194 | 2 | - | - |
RHBDL3 | p.P334Rfs*25 | Frame_Shift_Del | DEL | 0.475 | 2 | - | - |
RHEBL1 | p.X68_splice | Splice_Site | SNP | 0.400 | 2 | - | - |
RIC8B | p.R254C | Missense | SNP | 0.413 | 2 | - | - |
RIN1 | p.S322T | Missense | SNP | 0.462 | 2 | - | - |
RIPPLY2 | - | - | - | - | 1 | Loss | - |
RN7SKP48 | - | - | - | - | ND | ND | RN7SKP71--RN7SKP48 |
RN7SKP62 | - | - | - | - | ND | ND | RN7SKP80--RN7SKP62 |
RN7SKP71 | - | - | - | - | ND | ND | RN7SKP71--RN7SKP48 |
RN7SKP80 | - | - | - | - | ND | ND | RN7SKP80--RN7SKP62 |
RNF141 | p.K58Nfs*41 | Frame_Shift_Del | DEL | 0.324 | 2 | - | - |
RNF145 | p.M336T | Missense | SNP | 0.525 | 2 | - | - |
RNF43 | p.G659Vfs*41 | Frame_Shift_Del | DEL | 0.437 | 2 | - | - |
RNFT1 | p.L151M | Missense | SNP | 0.053 | 2 | - | - |
ROBO2 | p.D186Tfs*12 | Frame_Shift_Del | DEL | 0.459 | 2 | - | - |
ROCK2 | p.W138Gfs*31 | Frame_Shift_Del | DEL | 0.423 | 2 | - | - |
ROM1 | p.R171H | Missense | SNP | 0.349 | 2 | - | - |
RP11-108K14.8 | p.N112Mfs*8 p.P334Rfs*28 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.380 0.438 | ND | ND | - |
RP11-468E2.6 | p.I177Sfs*13 | Frame_Shift_Del | DEL | 0.441 | ND | ND | - |
RP5-1187M17.10 | p.P181Rfs*26 p.P142H | Frame_Shift_Del Missense | DEL SNP | 0.284 0.457 | ND | ND | - |
RPA1 | p.X458_splice | Splice_Site | SNP | 0.440 | 2 | - | - |
RPL22 | p.R97S | Missense | SNP | 0.449 | 2 | - | - |
RPN1 | p.L537P | Missense | SNP | 0.455 | 2 | - | - |
RPTOR | p.T135Sfs*67 | Frame_Shift_Del | DEL | 0.502 | 2 | - | - |
RRAD | p.C302Y | Missense | SNP | 0.477 | 2 | - | - |
RSBN1L | - | - | - | - | 1 | Loss | - |
RSPH10B2 | - | - | - | - | 3 | Gain | - |
RSPH9 | p.P271Q | Missense | SNP | 0.502 | 2 | - | - |
RTN1 | p.A566T | Missense | SNP | 0.065 | 2 | - | - |
RTP4 | p.S168Afs*3 | Frame_Shift_Del | DEL | 0.443 | 2 | - | - |
RUSC2 | p.A470D | Missense | SNP | 0.454 | 2 | - | - |
RXFP1 | p.T598R | Missense | SNP | 0.393 | 2 | - | - |
RYR1 | p.R1130H | Missense | SNP | 0.505 | 2 | - | - |
SASS6 | p.P651H | Missense | SNP | 0.551 | 2 | - | - |
SAXO1 | p.V216M | Missense | SNP | 0.415 | 2 | - | - |
SBNO1 | p.R140* | Nonsense | SNP | 0.337 | 2 | - | - |
SCAF1 | p.V1151M | Missense | SNP | 0.516 | 2 | - | - |
SCAF11 | p.R847C | Missense | SNP | 0.456 | 2 | - | - |
SCFD2 | p.L472R | Missense | SNP | 0.490 | 2 | - | - |
SCGB3A2 | p.L89P | Missense | SNP | 0.505 | 2 | - | - |
SCML1 | p.L97M | Missense | SNP | 1.000 | ND | ND | - |
SCML4 | p.G158C | Missense | SNP | 0.511 | 2 | - | - |
SCN11A | p.R763H | Missense | SNP | 0.568 | 2 | - | - |
SCN8A | p.K1393Q | Missense | SNP | 0.464 | 2 | - | - |
SCUBE3 | p.R982H | Missense | SNP | 0.476 | 2 | - | - |
SDAD1 | p.Y138H | Missense | SNP | 0.342 | 2 | - | - |
SDCCAG8 | p.A350V | Missense | SNP | 0.463 | 2 | - | - |
SDK1 | p.R1481Efs*10 | Frame_Shift_Del | DEL | 0.472 | 2 | - | - |
SDK2 | p.E313D | Missense | SNP | 0.397 | 2 | - | - |
SEC31A | p.I462Lfs*16 | Frame_Shift_Del | DEL | 0.180 | 2 | - | - |
SEMA3B | p.P703L | Missense | SNP | 0.484 | 2 | - | - |
SEMA3C | - | - | - | - | 1 | Loss | - |
SEMA3E | - | - | - | - | 1 | Loss | - |
SEMA4F | p.X186_splice | Splice_Site | DEL | 0.521 | 2 | - | - |
SEMA6D | p.H761R | Missense | SNP | 0.451 | 2 | - | - |
SEMA7A | p.W627L | Missense | SNP | 0.482 | 2 | - | - |
SERPINB4 | p.M267I | Missense | SNP | 0.453 | 2 | - | - |
SERPIND1 | p.T262Nfs*41 | Frame_Shift_Ins | INS | 0.273 | 2 | - | - |
SETD1B | p.P693Hfs*31 | Frame_Shift_Del | DEL | 0.394 | 2 | - | - |
SFSWAP | p.E291D | Missense | SNP | 0.433 | 2 | - | - |
SGCG | p.S231G | Missense | SNP | 0.449 | 2 | - | - |
SGK223 | p.A1109V | Missense | SNP | 0.413 | ND | ND | - |
SGO1 | p.N465Efs*2 | Frame_Shift_Ins | INS | 0.289 | 2 | - | - |
SGO2 | p.G644Vfs*18 | Frame_Shift_Del | DEL | 0.320 | 2 | - | - |
SH3BGRL2 | p.L65Cfs*31 | Frame_Shift_Del | DEL | 0.534 | 2 | - | - |
SHANK3 | p.A730T | Missense | SNP | 0.487 | 2 | - | - |
SHPRH | p.G458Efs*26 | Frame_Shift_Del | DEL | 0.266 | 2 | - | - |
SIGLEC1 | p.R662C | Missense | SNP | 0.532 | 2 | - | - |
SIN3A | p.F895Lfs*10 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
SIPA1L3 | p.S97R | Missense | SNP | 0.478 | 2 | - | - |
SIX5 | p.A625Pfs*31 | Frame_Shift_Del | DEL | 0.426 | 2 | - | - |
SKIV2L | p.M406T | Missense | SNP | 0.498 | 2 | - | - |
SLC12A3 | p.V265M | Missense | SNP | 0.440 | 2 | - | - |
SLC12A7 | p.H686Pfs*230 | Frame_Shift_Ins | INS | 0.112 | 2 | - | - |
SLC16A11 | p.G340Vfs*12 | Frame_Shift_Del | DEL | 0.460 | 2 | - | - |
SLC18A3 | p.T72A | Missense | SNP | 0.518 | 2 | - | - |
SLC1A5 | - | - | - | - | 3 | Gain | - |
SLC22A2 | p.E69D | Missense | SNP | 0.487 | 2 | - | - |
SLC22A6 | p.F259Lfs*27 | Frame_Shift_Del | DEL | 0.516 | 2 | - | - |
SLC25A19 | p.P180L | Missense | SNP | 0.470 | 2 | - | - |
SLC25A2 | - | - | - | - | 3 | Gain | - |
SLC25A39 | p.P135Hfs*13 | Frame_Shift_Del | DEL | 0.421 | 2 | - | - |
SLC27A4 | p.G462D | Missense | SNP | 0.471 | 2 | - | - |
SLC27A6 | p.W477Lfs*19 | Frame_Shift_Ins | INS | 0.255 | 2 | - | - |
SLC2A10 | p.P9S | Missense | SNP | 0.418 | 2 | - | - |
SLC2A5 | p.S7R | Missense | SNP | 0.454 | 2 | - | - |
SLC2A8 | p.V275I | Missense | SNP | 0.297 | 2 | - | - |
SLC37A3 | p.P252S | Missense | SNP | 0.479 | 2 | - | - |
SLC38A8 | p.F45S | Missense | SNP | 0.526 | 2 | - | - |
SLC43A1 | p.G400R | Missense | SNP | 0.525 | 2 | - | - |
SLC4A7 | p.Q364L | Missense | SNP | 0.500 | 2 | - | - |
SLC6A6 | p.F493Lfs*31 | Frame_Shift_Del | DEL | 0.506 | 2 | - | - |
SLC6A9 | p.I513T | Missense | SNP | 0.486 | 2 | - | - |
SLC8A1 | p.R703C | Missense | SNP | 0.156 | 2 | - | - |
SLIT3 | p.G914W | Missense | SNP | 0.540 | 2 | - | - |
SLITRK6 | p.A559Pfs*2 | Frame_Shift_Del | DEL | 0.498 | 2 | - | - |
SMAP2 | p.K152Nfs*10 | Frame_Shift_Del | DEL | 0.725 | 2 | - | - |
SMARCAL1 | p.S949G | Missense | SNP | 0.310 | 2 | - | - |
SMARCD1 | p.L463F | Missense | SNP | 0.477 | 2 | - | - |
SNAP91 | - | - | - | - | 1 | Loss | - |
SNED1 | p.A339S | Missense | SNP | 0.452 | 2 | - | - |
SNTA1 | p.Q296P | Missense | SNP | 0.535 | 2 | - | - |
SNTG2 | p.X240_splice | Splice_Site | SNP | 0.465 | 2 | - | - |
SNX15 | p.A224T | Missense | SNP | 0.450 | 2 | - | - |
SOBP | p.A483T | Missense | SNP | 0.414 | 2 | - | - |
SORBS1 | p.E1200K | Missense | SNP | 0.507 | 2 | - | - |
SORCS1 | p.X611_splice | Splice_Site | SNP | 0.571 | 2 | - | - |
SOX17 | p.P328Rfs*59 | Frame_Shift_Del | DEL | 0.346 | 2 | - | - |
SPANXB1 | p.M48* | Frame_Shift_Del | DEL | 0.237 | ND | ND | - |
SPATA18 | p.T521A | Missense | SNP | 0.511 | 2 | - | - |
SPATA31A1 | p.K619Sfs*19 | Frame_Shift_Del | DEL | 0.307 | 2 | - | - |
SPEF1 | p.Q143K | Missense | SNP | 0.431 | 2 | - | - |
SPINT2 | p.V235I | Missense | SNP | 0.338 | 2 | - | - |
SPTAN1 | p.R2419Q | Missense | SNP | 0.435 | 2 | - | - |
SPTBN4 | p.A38T | Missense | SNP | 0.455 | 2 | - | - |
SPZ1 | p.R334I | Missense | SNP | 0.476 | 2 | - | - |
SRCAP | p.M997I | Missense | SNP | 0.411 | 2 | - | - |
SRSF1 | p.G156D | Missense | SNP | 0.522 | 2 | - | - |
SSBP3 | p.N49Tfs*95 | Frame_Shift_Del | DEL | 0.517 | 2 | - | - |
SSUH2 | p.Q326R | Missense | SNP | 0.455 | 2 | - | - |
ST6GALNAC2 | p.P259L | Missense | SNP | 0.415 | 2 | - | - |
STAB1 | p.S308N | Missense | SNP | 0.489 | 2 | - | - |
STAC2 | p.P20Qfs*49 | Frame_Shift_Del | DEL | 0.440 | 2 | - | - |
STARD8 | p.R177H | Missense | SNP | 1.000 | ND | ND | - |
STAT5A | p.X420_splice | Splice_Site | SNP | 0.498 | 2 | - | - |
STKLD1 | p.L500* | Nonsense | SNP | 0.494 | 2 | - | - |
STPG3 | p.S221Y | Missense | SNP | 0.497 | 2 | - | - |
STRN4 | - | - | - | - | 3 | Gain | - |
STXBP5 | - | - | - | - | 1 | Loss | - |
SUOX | p.G120R | Missense | SNP | 0.478 | 2 | - | - |
SV2A | p.Q430Rfs*19 p.E138Rfs*39 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.445 0.500 | 2 | - | - |
SYCE2 | p.X103_splice | Splice_Site | SNP | 0.516 | 2 | - | - |
SYN3 | p.A172V | Missense | SNP | 0.508 | 2 | - | - |
SYNE2 | p.M1669Wfs*6 p.T1693Lfs*32 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.411 0.463 | 2 | - | - |
SYNGAP1 | p.L1302Wfs*8 | Frame_Shift_Del | DEL | 0.506 | 2 | - | - |
SYNM | p.V1365I | Missense | SNP | 0.454 | 2 | - | - |
T | p.A86T | Missense | SNP | 0.443 | ND | ND | - |
TAAR6 | p.M162T | Missense | SNP | 0.556 | 2 | - | - |
TACC3 | p.M396Cfs*65 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
TAF4 | p.V766A | Missense | SNP | 0.539 | 2 | - | - |
TAF7 | - | - | - | - | 3 | Gain | - |
TAPBPL | p.G272C | Missense | SNP | 0.351 | 2 | - | - |
TAS1R3 | p.V617I | Missense | SNP | 0.530 | 2 | - | - |
TAS2R46 | p.K40N | Missense | SNP | 0.417 | 2 | - | - |
TBC1D17 | p.S20R | Missense | SNP | 0.494 | 2 | - | - |
TBC1D23 | p.K649Nfs*18 | Frame_Shift_Del | DEL | 0.414 | 2 | - | - |
TBC1D32 | p.K725Nfs*21 | Frame_Shift_Del | DEL | 0.283 | 2 | - | - |
TBC1D9B | p.G135R | Missense | SNP | 0.500 | 2 | - | - |
TBX2 | p.P302Q | Missense | SNP | 0.466 | 2 | - | - |
TBX4 | p.P371Lfs*8 | Frame_Shift_Del | DEL | 0.468 | 2 | - | - |
TCAIM | p.K204Sfs*2 | Frame_Shift_Del | DEL | 0.446 | 2 | - | - |
TCERG1 | p.I983Nfs*3 | Frame_Shift_Ins | INS | 0.297 | 2 | - | - |
TCL1B | p.R43H | Missense | SNP | 0.447 | 2 | - | - |
TCOF1 | p.K1480R | Missense | SNP | 0.511 | 2 | - | - |
TCP10 | p.A278V | Missense | SNP | 0.148 | 2 | - | - |
TCP10L2 | p.A305V | Missense | SNP | 0.420 | 2 | - | - |
TCP11 | p.Q307H | Missense | SNP | 0.481 | 2 | - | - |
TCTE3 | p.R144H | Missense | SNP | 0.521 | 2 | - | - |
TDRD5 | p.L336I | Missense | SNP | 0.540 | 2 | - | - |
TECPR2 | p.E73K | Missense | SNP | 0.487 | 2 | - | - |
TENM2 | p.S2060F | Missense | SNP | 0.457 | 2 | - | - |
TERF1 | p.A53Pfs*63 | Frame_Shift_Del | DEL | 0.430 | 2 | - | - |
TET1 | p.N945S | Missense | SNP | 0.437 | 2 | - | - |
TFAM | p.A13V | Missense | SNP | 0.519 | 2 | - | - |
TGFBRAP1 | p.A751T | Missense | SNP | 0.490 | 2 | - | - |
TGM6 | p.Q360Rfs*99 | Frame_Shift_Del | DEL | 0.468 | 2 | - | - |
TH | p.H158Tfs*79 | Frame_Shift_Del | DEL | 0.440 | 2 | - | - |
THAP5 | p.K99Nfs*25 | Frame_Shift_Del | DEL | 0.345 | 2 | - | - |
THEMIS2 | p.N76Tfs*49 | Frame_Shift_Del | DEL | 0.461 | 2 | - | - |
TKTL2 | p.H525Y | Missense | SNP | 0.361 | 2 | - | - |
TLR9 | p.K51T | Missense | SNP | 0.447 | 2 | - | - |
TMC7 | p.L114I | Missense | SNP | 0.298 | 2 | - | - |
TMEM165 | p.L146Cfs*34 | Frame_Shift_Del | DEL | 0.495 | 2 | - | - |
TMEM41A | p.F156Sfs*5 | Frame_Shift_Del | DEL | 0.459 | 2 | - | - |
TMEM54 | p.R176C | Missense | SNP | 0.464 | 2 | - | - |
TMEM60 | - | - | - | - | 1 | Loss | - |
TMEM86B | p.H197R | Missense | SNP | 0.504 | 2 | - | - |
TMEM87B | p.V339A | Missense | SNP | 0.500 | 2 | - | - |
TNF | p.P24Afs*63 | Frame_Shift_Ins | INS | 0.328 | 2 | - | - |
TNFAIP2 | p.S37P | Missense | SNP | 0.547 | 2 | - | - |
TNFRSF8 | p.P327S | Missense | SNP | 0.466 | 2 | - | - |
TNPO2 | - | - | - | - | 3 | Gain | - |
TNRC6B | p.G1508Vfs*8 | Frame_Shift_Del | DEL | 0.299 | 2 | - | - |
TNRC6C | p.N615Mfs*45 | Frame_Shift_Del | DEL | 0.499 | 2 | - | - |
TONSL | p.L602Sfs*41 | Frame_Shift_Del | DEL | 0.465 | 2 | - | - |
TOPAZ1 | p.A632Lfs*5 | Frame_Shift_Del | DEL | 0.532 | 2 | - | - |
TOR2A | p.G210Afs*60 | Frame_Shift_Del | DEL | 0.481 | 2 | - | - |
TP53BP1 | p.R1656* | Nonsense | SNP | 0.432 | 2 | - | - |
TPCN1 | p.G153D | Missense | SNP | 0.489 | 2 | - | - |
TPO | p.T679A | Missense | SNP | 0.457 | 2 | - | - |
TPTE2 | p.F161Lfs*15 | Frame_Shift_Del | DEL | 0.583 | 2 | - | - |
TRAF1 | p.R308W | Missense | SNP | 0.144 | 2 | - | - |
TRAF3IP1 | p.A220Efs*44 p.I544N | Frame_Shift_Ins Missense | INS SNP | 0.307 0.509 | 2 | - | - |
TRAF3IP3 | p.R36C | Missense | SNP | 0.477 | 2 | - | - |
TRANK1 | p.T2109Qfs*6 | Frame_Shift_Del | DEL | 0.462 | 2 | - | - |
TRIM64B | p.E148K | Missense | SNP | 0.210 | ND | ND | - |
TRIR | - | - | - | - | 3 | Gain | - |
TROVE2 | p.A163V | Missense | SNP | 0.459 | 2 | - | - |
TRPC5 | p.P812H | Missense | SNP | 1.000 | ND | ND | - |
TRPM1 | p.K271Sfs*46 | Frame_Shift_Del | DEL | 0.507 | 2 | - | - |
TRPM8 | p.E768Sfs*16 | Frame_Shift_Del | DEL | 0.394 | 2 | - | - |
TRPV6 | p.R748C | Missense | SNP | 0.472 | 2 | - | - |
TSHZ2 | p.M819* | Frame_Shift_Del | DEL | 0.455 | 2 | - | - |
TSPY1 | p.G23C | Missense | SNP | 0.086 | ND | ND | - |
TTC29 | p.R37H | Missense | SNP | 0.478 | 2 | - | - |
TTN | p.Q28427R p.K21243R p.E2119A | Missense Missense Missense | SNP SNP SNP | 0.543 0.377 0.489 | 2 | - | - |
TUBGCP2 | p.Q911Kfs*25 | Frame_Shift_Del | DEL | 0.430 | 2 | - | - |
TUBGCP6 | p.L1634R | Missense | SNP | 0.479 | 2 | - | - |
TULP4 | p.R343C | Missense | SNP | 0.312 | 2 | - | - |
TXLNG | p.E395A | Missense | SNP | 1.000 | ND | ND | - |
U2SURP | p.N169Ifs*16 | Frame_Shift_Del | DEL | 0.349 | 2 | - | - |
UBALD2 | p.K84E | Missense | SNP | 0.538 | 2 | - | - |
UBAP1L | p.P210S | Missense | SNP | 0.516 | 2 | - | - |
UBE2S | p.R110Q | Missense | SNP | 0.482 | 2 | - | - |
UBE4B | p.A444Hfs*14 | Frame_Shift_Del | DEL | 0.430 | 2 | - | - |
UBN1 | p.M958Cfs*7 | Frame_Shift_Del | DEL | 0.470 | 2 | - | - |
UNC79 | p.L1317Afs*10 p.C1831W | Frame_Shift_Ins Missense | INS SNP | 0.251 0.481 | 2 | - | - |
UPK1B | - | - | - | - | 3 | Gain | - |
UQCRC1 | p.R269C | Missense | SNP | 1.000 | 2 | - | - |
USP24 | p.N614Tfs*34 | Frame_Shift_Del | DEL | 0.259 | 2 | - | - |
USP27X | p.T271M | Missense | SNP | 1.000 | ND | ND | - |
USP37 | p.A354V | Missense | SNP | 0.574 | 2 | - | - |
USP40 | p.L5* | Frame_Shift_Del | DEL | 0.483 | 2 | - | - |
USP48 | p.K85Rfs*7 | Frame_Shift_Del | DEL | 0.242 | 2 | - | - |
USP6 | p.P731H | Missense | SNP | 0.449 | 2 | - | - |
UTP20 | p.L131* | Frame_Shift_Del | DEL | 0.544 | 2 | - | - |
VAT1 | p.N138S | Missense | SNP | 0.515 | 2 | - | - |
VEZT | p.Q479R | Missense | SNP | 0.481 | 2 | - | - |
VIL1 | p.V341I | Missense | SNP | 0.333 | 2 | - | - |
VIPR1 | p.L349Cfs*20 | Frame_Shift_Del | DEL | 0.418 | 2 | - | - |
VPS13A | p.D3089dup | In_Frame_Ins | INS | 0.174 | 2 | - | - |
VPS9D1 | p.P316Rfs*93 | Frame_Shift_Del | DEL | 0.399 | 2 | - | - |
VSTM2B | p.S238L | Missense | SNP | 0.473 | 2 | - | - |
VSTM4 | p.A141P | Missense | SNP | 0.436 | 2 | - | - |
VWA3B | p.C449Y | Missense | SNP | 0.432 | 2 | - | - |
WDR5 | p.V217Rfs*42 | Frame_Shift_Ins | INS | 0.243 | 2 | - | - |
WDR81 | p.K1400* | Frame_Shift_Ins | INS | 0.305 | 2 | - | - |
WDR83 | - | - | - | - | 3 | Gain | - |
WDR83OS | - | - | - | - | 3 | Gain | - |
WDR90 | p.P930H | Missense | SNP | 0.082 | 2 | - | - |
WNT16 | p.G167Afs*17 | Frame_Shift_Del | DEL | 0.477 | 2 | - | - |
WNT3 | p.G210W | Missense | SNP | 0.457 | 2 | - | - |
XRN1 | p.R1611Gfs*34 | Frame_Shift_Del | DEL | 0.552 | 2 | - | - |
YAF2 | p.F154V | Missense | SNP | 0.443 | 2 | - | - |
YBX3 | p.R233W | Missense | SNP | 0.495 | 2 | - | - |
YTHDF1 | p.S361Afs*11 | Frame_Shift_Del | DEL | 0.404 | 2 | - | - |
ZBTB12 | p.A307Rfs*24 | Frame_Shift_Del | DEL | 0.391 | 2 | - | - |
ZC3H13 | p.D638Sfs*14 | Frame_Shift_Del | DEL | 0.324 | 2 | - | - |
ZC3H6 | p.R99Efs*23 | Frame_Shift_Del | DEL | 0.611 | 2 | - | - |
ZCCHC24 | p.R194Afs*? | Frame_Shift_Del | DEL | 0.510 | 2 | - | - |
ZCCHC4 | p.F320Lfs*19 | Frame_Shift_Del | DEL | 0.422 | 2 | - | - |
ZCCHC8 | p.C179Afs*10 | Frame_Shift_Del | DEL | 0.474 | 2 | - | - |
ZDHHC8 | p.T459Rfs*177 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
ZFAND4 | p.L624Cfs*8 | Frame_Shift_Del | DEL | 0.421 | 2 | - | - |
ZFHX2 | p.L1363Q p.H894R | Missense Missense | SNP SNP | 0.519 0.500 | 2 | - | - |
ZFHX4 | p.R2661G | Missense | SNP | 0.129 | 2 | - | - |
ZFP14 | p.S111Kfs*3 | Frame_Shift_Ins | INS | 0.309 | 2 | - | - |
ZFP36L2 | p.P271Rfs*190 | Frame_Shift_Del | DEL | 0.432 | 2 | - | - |
ZFR | p.E359Kfs*4 | Frame_Shift_Del | DEL | 0.543 | 2 | - | - |
ZFX | p.X266_splice | Splice_Site | SNP | 1.000 | ND | ND | - |
ZKSCAN1 | p.K27N | Missense | SNP | 0.478 | 2 | - | - |
ZKSCAN7 | - | - | - | - | 3 | Gain | - |
ZMYM4 | p.K430Nfs*6 | Frame_Shift_Del | DEL | 0.427 | 2 | - | - |
ZNF10 | - | - | - | - | 3 | Gain | - |
ZNF101 | - | - | - | - | 3 | Gain | - |
ZNF106 | p.S482Pfs*33 | Frame_Shift_Del | DEL | 0.374 | 2 | - | - |
ZNF112 | - | - | - | - | 3 | Gain | - |
ZNF12 | - | - | - | - | 3 | Gain | - |
ZNF136 | - | - | - | - | 3 | Gain | - |
ZNF14 | - | - | - | - | 3 | Gain | - |
ZNF140 | - | - | - | - | 3 | Gain | - |
ZNF155 | - | - | - | - | 3 | Gain | - |
ZNF16 | - | - | - | - | 3 | Gain | - |
ZNF160 | - | - | - | - | 3 | Gain | - |
ZNF169 | p.S158R | Missense | SNP | 0.448 | 2 | - | - |
ZNF175 | p.P614H | Missense | SNP | 0.444 | 2 | - | - |
ZNF180 | - | - | - | - | 3 | Gain | - |
ZNF197 | - | - | - | - | 3 | Gain | - |
ZNF20 | - | - | - | - | 3 | Gain | - |
ZNF221 | - | - | - | - | 3 | Gain | - |
ZNF222 | - | - | - | - | 3 | Gain | - |
ZNF223 | - | - | - | - | 3 | Gain | - |
ZNF224 | - | - | - | - | 3 | Gain | - |
ZNF225 | - | - | - | - | 3 | Gain | - |
ZNF226 | - | - | - | - | 3 | Gain | - |
ZNF227 | - | - | - | - | 3 | Gain | - |
ZNF229 | - | - | - | - | 3 | Gain | - |
ZNF230 | - | - | - | - | 3 | Gain | - |
ZNF233 | - | - | - | - | 3 | Gain | - |
ZNF234 | - | - | - | - | 3 | Gain | - |
ZNF235 | - | - | - | - | 3 | Gain | - |
ZNF250 | - | - | - | - | 3 | Gain | - |
ZNF253 | - | - | - | - | 3 | Gain | - |
ZNF26 | - | - | - | - | 3 | Gain | - |
ZNF268 | - | - | - | - | 3 | Gain | - |
ZNF28 | - | - | - | - | 3 | Gain | - |
ZNF284 | - | - | - | - | 3 | Gain | - |
ZNF285 | p.S279N | Missense | SNP | 0.518 | 3 | Gain | - |
ZNF292 | p.S2049Vfs*11 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
ZNF320 | - | - | - | - | 3 | Gain | - |
ZNF324 | p.S528L | Missense | SNP | 0.472 | 2 | - | - |
ZNF331 | p.G367D | Missense | SNP | 0.513 | 2 | - | - |
ZNF347 | p.E62* | Nonsense | SNP | 0.525 | 2 | - | - |
ZNF35 | - | - | - | - | 3 | Gain | - |
ZNF350 | - | - | - | - | 3 | Gain | - |
ZNF354A | p.K296N | Missense | SNP | 0.369 | 2 | - | - |
ZNF415 | - | - | - | - | 3 | Gain | - |
ZNF432 | - | - | - | - | 3 | Gain | - |
ZNF433 | - | - | - | - | 3 | Gain | - |
ZNF439 | - | - | - | - | 3 | Gain | - |
ZNF44 | - | - | - | - | 3 | Gain | - |
ZNF440 | - | - | - | - | 3 | Gain | - |
ZNF441 | - | - | - | - | 3 | Gain | - |
ZNF442 | - | - | - | - | 3 | Gain | - |
ZNF443 | - | - | - | - | 3 | Gain | - |
ZNF445 | - | - | - | - | 3 | Gain | - |
ZNF468 | - | - | - | - | 3 | Gain | - |
ZNF469 | p.S2088Hfs*84 p.R3818Q | Frame_Shift_Del Missense | DEL SNP | 0.485 0.474 | 2 | - | - |
ZNF480 | - | - | - | - | 3 | Gain | - |
ZNF486 | - | - | - | - | 3 | Gain | - |
ZNF490 | - | - | - | - | 3 | Gain | - |
ZNF491 | - | - | - | - | 3 | Gain | - |
ZNF492 | p.K73Nfs*9 | Frame_Shift_Del | DEL | 0.456 | 2 | - | - |
ZNF501 | - | - | - | - | 3 | Gain | - |
ZNF502 | - | - | - | - | 3 | Gain | - |
ZNF506 | - | - | - | - | 3 | Gain | - |
ZNF528 | - | - | - | - | 3 | Gain | - |
ZNF534 | - | - | - | - | 3 | Gain | - |
ZNF551 | p.A78V | Missense | SNP | 0.123 | 2 | - | - |
ZNF563 | - | - | - | - | 3 | Gain | - |
ZNF564 | - | - | - | - | 3 | Gain | - |
ZNF577 | - | - | - | - | 3 | Gain | - |
ZNF578 | - | - | - | - | 3 | Gain | - |
ZNF600 | - | - | - | - | 3 | Gain | - |
ZNF605 | - | - | - | - | 3 | Gain | - |
ZNF610 | - | - | - | - | 3 | Gain | - |
ZNF611 | - | - | - | - | 3 | Gain | - |
ZNF613 | - | - | - | - | 3 | Gain | - |
ZNF614 | - | - | - | - | 3 | Gain | - |
ZNF615 | - | - | - | - | 3 | Gain | - |
ZNF616 | - | - | - | - | 3 | Gain | - |
ZNF624 | p.K140N | Missense | SNP | 0.475 | 2 | - | - |
ZNF625 | - | - | - | - | 3 | Gain | - |
ZNF625-ZNF20 | - | - | - | - | 3 | Gain | - |
ZNF627 | - | - | - | - | 3 | Gain | - |
ZNF646 | p.E918Kfs*24 | Frame_Shift_Del | DEL | 0.462 | 2 | - | - |
ZNF648 | p.A184T | Missense | SNP | 0.486 | 2 | - | - |
ZNF649 | - | - | - | - | 3 | Gain | - |
ZNF654 | p.S426R p.K521N | Missense Missense | SNP SNP | 0.463 0.442 | 2 | - | - |
ZNF660 | - | - | - | - | 3 | Gain | - |
ZNF682 | - | - | - | - | 3 | Gain | - |
ZNF689 | p.E314K | Missense | SNP | 0.435 | 2 | - | - |
ZNF69 | - | - | - | - | 3 | Gain | - |
ZNF7 | - | - | - | - | 3 | Gain | - |
ZNF700 | p.K69Nfs*22 | Frame_Shift_Del | DEL | 0.551 | 3 | Gain | - |
ZNF701 | - | - | - | - | 3 | Gain | - |
ZNF709 | - | - | - | - | 3 | Gain | - |
ZNF763 | - | - | - | - | 3 | Gain | - |
ZNF766 | - | - | - | - | 3 | Gain | - |
ZNF791 | - | - | - | - | 3 | Gain | - |
ZNF799 | - | - | - | - | 3 | Gain | - |
ZNF808 | - | - | - | - | 3 | Gain | - |
ZNF816 | - | - | - | - | 3 | Gain | - |
ZNF816-ZNF321P | - | - | - | - | 3 | Gain | - |
ZNF823 | - | - | - | - | 3 | Gain | - |
ZNF83 | - | - | - | - | 3 | Gain | - |
ZNF836 | - | - | - | - | 3 | Gain | - |
ZNF837 | p.P91L | Missense | SNP | 0.493 | 2 | - | - |
ZNF84 | - | - | - | - | 3 | Gain | - |
ZNF841 | - | - | - | - | 3 | Gain | - |
ZNF844 | - | - | - | - | 3 | Gain | - |
ZNF852 | - | - | - | - | 3 | Gain | - |
ZNF862 | p.V544I | Missense | SNP | 0.501 | 2 | - | - |
ZNF865 | p.A472V | Missense | SNP | 0.473 | 2 | - | - |
ZNF878 | - | - | - | - | 3 | Gain | - |
ZNF880 | - | - | - | - | 3 | Gain | - |
ZNF888 | - | - | - | - | 3 | Gain | - |
ZNF891 | - | - | - | - | 3 | Gain | - |
ZNF90 | p.K61Nfs*5 | Frame_Shift_Del | DEL | 0.153 | 3 | Gain | - |
ZNF93 | - | - | - | - | 3 | Gain | - |
ZUFSP | p.N503Tfs*7 | Frame_Shift_Del | DEL | 0.358 | ND | ND | - |