Variant Type | Calling Status |
---|---|
Mutations | Called |
Copy number | Called |
Fusions | Called |
Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
---|---|---|---|---|---|---|---|
A2M | - | - | - | - | 3 | Gain | - |
A2ML1 | - | - | - | - | 3 | Gain | - |
AAAS | - | - | - | - | 3 | Gain | - |
AACS | - | - | - | - | 3 | Gain | - |
ABCA13 | p.A4850T | Missense | SNP | 0.490 | 2 | - | - |
ABCB9 | - | - | - | - | 3 | Gain | - |
ABCC12 | p.A616T | Missense | SNP | 0.525 | 2 | - | - |
ABCC9 | - | - | - | - | 3 | Gain | - |
ABCD2 | - | - | - | - | 3 | Gain | - |
ABCE1 | p.L313Wfs*10 | Frame_Shift_Del | DEL | 0.106 | 2 | - | - |
ABCG1 | p.R533H | Missense | SNP | 0.498 | 2 | - | - |
ABI3 | p.A82T | Missense | SNP | 0.472 | 2 | - | - |
AC002996.1 | - | - | - | - | 3 | Gain | - |
AC005832.4 | - | - | - | - | 3 | Gain | - |
AC005833.1 | - | - | - | - | 3 | Gain | - |
AC006064.6 | - | - | - | - | 3 | Gain | - |
AC006518.7 | - | - | - | - | 3 | Gain | - |
AC007000.3 | - | - | - | - | ND | ND | AC007000.3--CCDC146 |
AC008012.1 | - | - | - | - | 3 | Gain | - |
AC010197.2 | - | - | - | - | 3 | Gain | - |
AC011604.2 | - | - | - | - | 3 | Gain | - |
AC012531.2 | - | - | - | - | 3 | Gain | - |
AC022335.1 | - | - | - | - | 3 | Gain | - |
AC023055.1 | - | - | - | - | 3 | Gain | - |
AC023509.3 | - | - | - | - | 3 | Gain | - |
AC025165.3 | - | - | - | - | 3 | Gain | - |
AC025263.2 | - | - | - | - | 3 | Gain | - |
AC026786.1 | - | - | - | - | 3 | Gain | - |
AC034102.2 | - | - | - | - | 3 | Gain | - |
AC048338.1 | - | - | - | - | 3 | Gain | - |
AC068775.1 | - | - | - | - | 3 | Gain | - |
AC069503.2 | - | - | - | - | 3 | Gain | - |
AC073610.2 | - | - | - | - | 3 | Gain | - |
AC073610.3 | - | - | - | - | 3 | Gain | - |
AC073612.1 | - | - | - | - | 3 | Gain | - |
AC073896.1 | - | - | - | - | 3 | Gain | - |
AC078927.1 | - | - | - | - | 3 | Gain | - |
AC092111.3 | - | - | - | - | 3 | Gain | - |
AC097104.1 | - | - | - | - | 3 | Gain | - |
AC117378.1 | - | - | - | - | 3 | Gain | - |
AC137834.1 | - | - | - | - | 3 | Gain | - |
ACAA1 | p.R102Q | Missense | SNP | 0.478 | 2 | - | - |
ACACB | p.V1006I | Missense | SNP | 0.374 | 3 | Gain | - |
ACAD10 | - | - | - | - | 3 | Gain | - |
ACADS | - | - | - | - | 3 | Gain | - |
ACRBP | p.H321N | Missense | SNP | 0.329 | 3 | Gain | - |
ACSM4 | - | - | - | - | 3 | Gain | - |
ACSS3 | - | - | - | - | 3 | Gain | - |
ACTL8 | p.V157M | Missense | SNP | 0.454 | 2 | - | - |
ACTL9 | p.D136N | Missense | SNP | 0.500 | 2 | - | - |
ACTR6 | p.E186K | Missense | SNP | 0.653 | 3 | Gain | - |
ACVR1B | - | - | - | - | 3 | Gain | - |
ACVR2A | p.K437Rfs*5 | Frame_Shift_Del | DEL | 0.914 | 2 | - | - |
ACVRL1 | - | - | - | - | 3 | Gain | - |
ADAD2 | p.R204H | Missense | SNP | 0.484 | 2 | - | - |
ADAMTS16 | p.T746M | Missense | SNP | 0.506 | 2 | - | - |
ADAMTS20 | - | - | - | - | 3 | Gain | - |
ADAMTS5 | p.R257W p.R170C | Missense Missense | SNP SNP | 0.070 0.513 | 2 | - | - |
ADCK3 | p.R187H | Missense | SNP | 0.565 | ND | ND | - |
ADCY6 | - | - | - | - | 3 | Gain | - |
ADD3 | p.K701Rfs*8 | Frame_Shift_Del | DEL | 0.417 | 2 | - | - |
ADGB | p.T73Qfs*23 | Frame_Shift_Del | DEL | 0.506 | 2 | - | - |
ADGRD1 | - | - | - | - | 3 | Gain | - |
ADIPOR2 | - | - | - | - | 3 | Gain | - |
AEBP2 | - | - | - | - | 3 | Gain | - |
AGAP2 | - | - | - | - | 3 | Gain | - |
AICDA | - | - | - | - | 3 | Gain | - |
AKAP3 | - | - | - | - | 3 | Gain | - |
AKAP9 | p.K39Rfs*17 | Frame_Shift_Del | DEL | 0.407 | 2 | - | - |
AL021546.1 | - | - | - | - | 3 | Gain | - |
ALDH1L2 | - | - | - | - | 3 | Gain | - |
ALDH2 | - | - | - | - | 3 | Gain | - |
ALG10 | - | - | - | - | 3 | Gain | - |
ALG10B | - | - | - | - | 3 | Gain | - |
ALKBH2 | - | - | - | - | 3 | Gain | - |
ALOX12B | p.A504V | Missense | SNP | 0.564 | 2 | - | - |
ALX1 | - | - | - | - | 3 | Gain | - |
AMDHD1 | - | - | - | - | 3 | Gain | - |
AMHR2 | - | - | - | - | 3 | Gain | - |
AMIGO2 | - | - | - | - | 3 | Gain | - |
AMN1 | - | - | - | - | 3 | Gain | - |
AMPD2 | p.A400T | Missense | SNP | 0.542 | 2 | - | - |
AMY1A | - | - | - | - | 1 | Loss | - |
AMY1B | - | - | - | - | 1 | Loss | - |
AMY1C | - | - | - | - | 1 | Loss | - |
AMY2A | - | - | - | - | 1 | Loss | - |
AMY2B | - | - | - | - | 1 | Loss | - |
ANAPC5 | - | - | - | - | 3 | Gain | - |
ANAPC7 | - | - | - | - | 3 | Gain | - |
ANHX | - | - | - | - | 3 | Gain | - |
ANK1 | p.A461V | Missense | SNP | 0.561 | 2 | - | - |
ANKLE2 | - | - | - | - | 3 | Gain | - |
ANKRD13A | - | - | - | - | 3 | Gain | - |
ANKRD33 | - | - | - | - | 3 | Gain | - |
ANKRD52 | - | - | - | - | 3 | Gain | - |
ANKS1B | - | - | - | - | 3 | Gain | - |
ANO2 | - | - | - | - | 3 | Gain | - |
ANO4 | - | - | - | - | 3 | Gain | - |
ANO6 | - | - | - | - | 3 | Gain | - |
ANP32D | - | - | - | - | 3 | Gain | - |
AP5S1 | p.R140W | Missense | SNP | 0.175 | 2 | - | - |
APAF1 | - | - | - | - | 3 | Gain | - |
APC | p.I638Yfs*8 p.T1556Nfs*3 p.A928T | Frame_Shift_Del Frame_Shift_Ins Missense | DEL INS SNP | 0.213 0.268 0.471 | 2 | - | - |
APOBEC1 | - | - | - | - | 3 | Gain | - |
APOF | - | - | - | - | 3 | Gain | - |
APOLD1 | - | - | - | - | 3 | Gain | - |
APPL2 | - | - | - | - | 3 | Gain | - |
AQP2 | - | - | - | - | 3 | Gain | - |
AQP5 | - | - | - | - | 3 | Gain | - |
AQP6 | - | - | - | - | 3 | Gain | - |
AR | p.Q60L | Missense | SNP | 0.129 | ND | ND | - |
ARF3 | - | - | - | - | 3 | Gain | - |
ARHGAP36 | p.R439C | Missense | SNP | 0.475 | ND | ND | - |
ARHGAP9 | - | - | - | - | 3 | Gain | - |
ARHGDIB | - | - | - | - | 3 | Gain | - |
ARHGEF15 | p.R456Vfs*21 | Frame_Shift_Del | DEL | 0.450 | 2 | - | - |
ARHGEF25 | - | - | - | - | 3 | Gain | - |
ARID1A | p.D1850Gfs*4 | Frame_Shift_Ins | INS | 0.249 | 2 | - | - |
ARID2 | - | - | - | - | 3 | Gain | - |
ARL1 | - | - | - | - | 3 | Gain | - |
ARL14EP | p.N89Ifs*4 | Frame_Shift_Del | DEL | 0.509 | 2 | - | - |
ARL6IP4 | - | - | - | - | 3 | Gain | - |
ARNTL2 | - | - | - | - | 3 | Gain | - |
ARPC3 | - | - | - | - | 3 | Gain | - |
ART4 | - | - | - | - | 3 | Gain | - |
ASB8 | - | - | - | - | 3 | Gain | - |
ASCL1 | - | - | - | - | 3 | Gain | - |
ASCL4 | - | - | - | - | 3 | Gain | - |
ASIC1 | - | - | - | - | 3 | Gain | - |
ASPG | p.R182W | Missense | SNP | 0.525 | 2 | - | - |
ASXL3 | p.R989Q | Missense | SNP | 0.469 | 2 | - | - |
ATF1 | - | - | - | - | 3 | Gain | - |
ATF7 | - | - | - | - | 3 | Gain | - |
ATF7IP | - | - | - | - | 3 | Gain | - |
ATG101 | - | - | - | - | 3 | Gain | - |
ATG9A | p.W158L | Missense | SNP | 0.065 | 2 | - | - |
ATN1 | - | - | - | - | 3 | Gain | - |
ATP10A | p.V802M | Missense | SNP | 0.479 | 2 | - | - |
ATP23 | - | - | - | - | 3 | Gain | - |
ATP2A2 | - | - | - | - | 3 | Gain | - |
ATP2B1 | - | - | - | - | 3 | Gain | - |
ATP2B2 | p.A543T p.A318V | Missense Missense | SNP SNP | 0.475 0.437 | 2 | - | - |
ATP5F1B | - | - | - | - | 3 | Gain | - |
ATP5MC2 | - | - | - | - | 3 | Gain | - |
ATP6V0A2 | - | - | - | - | 3 | Gain | - |
ATXN2 | - | - | - | - | 3 | Gain | - |
ATXN7L3B | - | - | - | - | 3 | Gain | - |
AVIL | - | - | - | - | 3 | Gain | - |
AVPR1A | - | - | - | - | 3 | Gain | - |
AXIN2 | p.T437M | Missense | SNP | 0.472 | 2 | - | - |
B3GALNT1 | p.K105Sfs*14 | Frame_Shift_Del | DEL | 0.465 | 2 | - | - |
B3GLCT | p.S80Afs*3 | Frame_Shift_Del | DEL | 0.442 | 2 | - | - |
B3GNT4 | - | - | - | - | 3 | Gain | - |
B3GNT9 | p.A282T | Missense | SNP | 0.476 | 2 | - | - |
B4GALNT1 | - | - | - | - | 3 | Gain | - |
B4GALNT3 | - | - | - | - | 3 | Gain | - |
BAHCC1 | p.H835Tfs*139 | Frame_Shift_Del | DEL | 0.094 | 2 | - | - |
BARHL2 | p.P120Q | Missense | SNP | 0.628 | 2 | - | - |
BAZ2A | - | - | - | - | 3 | Gain | - |
BBS10 | - | - | - | - | 3 | Gain | - |
BCAT1 | - | - | - | - | 3 | Gain | - |
BCDIN3D | - | - | - | - | 3 | Gain | - |
BCL2L14 | - | - | - | - | 3 | Gain | - |
BCL7A | - | - | - | - | 3 | Gain | - |
BCL9L | p.P1198Lfs*5 | Frame_Shift_Del | DEL | 0.397 | 2 | - | - |
BCOR | p.G400Afs*42 | Frame_Shift_Del | DEL | 0.499 | ND | ND | - |
BEST3 | - | - | - | - | 3 | Gain | - |
BHLHE41 | - | - | - | - | 3 | Gain | - |
BICD1 | - | - | - | - | 3 | Gain | - |
BICDL1 | - | - | - | - | 3 | Gain | - |
BIN2 | - | - | - | - | 3 | Gain | - |
BLOC1S1 | - | - | - | - | 3 | Gain | - |
BLOC1S1-RDH5 | - | - | - | - | 3 | Gain | - |
BMPR2 | p.N583Tfs*44 | Frame_Shift_Del | DEL | 0.426 | 2 | - | - |
BORCS5 | - | - | - | - | 3 | Gain | - |
BRAF | p.V600E | Missense | SNP | 0.568 | 2 | - | - |
BRAP | - | - | - | - | 3 | Gain | - |
BRD1 | p.R880H | Missense | SNP | 0.488 | 2 | - | - |
BRI3BP | - | - | - | - | 3 | Gain | - |
BTBD11 | - | - | - | - | 3 | Gain | - |
BTG1 | - | - | - | - | 3 | Gain | - |
C10orf71 | p.R157C | Missense | SNP | 0.488 | 2 | - | - |
C11orf88 | p.L23Ifs*16 | Frame_Shift_Ins | INS | 0.335 | 2 | - | - |
C12orf10 | - | - | - | - | 3 | Gain | - |
C12orf29 | - | - | - | - | 3 | Gain | - |
C12orf4 | - | - | - | - | 3 | Gain | - |
C12orf40 | - | - | - | - | 3 | Gain | - |
C12orf42 | - | - | - | - | 3 | Gain | - |
C12orf43 | - | - | - | - | 3 | Gain | - |
C12orf45 | - | - | - | - | 3 | Gain | - |
C12orf49 | - | - | - | - | 3 | Gain | - |
C12orf50 | - | - | - | - | 3 | Gain | - |
C12orf54 | - | - | - | - | 3 | Gain | - |
C12orf56 | - | - | - | - | 3 | Gain | - |
C12orf57 | - | - | - | - | 3 | Gain | - |
C12orf60 | - | - | - | - | 3 | Gain | - |
C12orf65 | - | - | - | - | 3 | Gain | - |
C12orf66 | - | - | - | - | 3 | Gain | - |
C12orf71 | - | - | - | - | 3 | Gain | - |
C12orf73 | - | - | - | - | 3 | Gain | - |
C12orf75 | - | - | - | - | 3 | Gain | - |
C12orf76 | - | - | - | - | 3 | Gain | - |
C15orf59 | p.N293Tfs*29 | Frame_Shift_Del | DEL | 0.500 | ND | ND | - |
C16orf54 | p.P195L | Missense | SNP | 0.434 | 2 | - | - |
C16orf87 | p.A12T | Missense | SNP | 0.447 | 2 | - | - |
C1orf141 | p.P122Tfs*2 | Frame_Shift_Ins | INS | 0.329 | 2 | - | - |
C1QL4 | - | - | - | - | 3 | Gain | - |
C1R | - | - | - | - | 3 | Gain | - |
C1RL | - | - | - | - | 3 | Gain | - |
C1S | - | - | - | - | 3 | Gain | - |
C2CD5 | - | - | - | - | 3 | Gain | - |
C3AR1 | - | - | - | - | 3 | Gain | - |
C5orf45 | p.Q197R | Missense | SNP | 0.500 | ND | ND | - |
C6orf89 | p.Q61Afs*10 | Frame_Shift_Ins | INS | 0.273 | 2 | - | - |
CABP1 | - | - | - | - | 3 | Gain | - |
CACNA1C | - | - | - | - | 3 | Gain | - |
CACNA2D4 | - | - | - | - | 3 | Gain | - |
CACNB3 | - | - | - | - | 3 | Gain | - |
CADPS2 | p.N468Ifs*7 | Frame_Shift_Del | DEL | 0.411 | 2 | - | - |
CALCOCO1 | - | - | - | - | 3 | Gain | - |
CAMKK2 | - | - | - | - | 3 | Gain | - |
CAND1 | - | - | - | - | 3 | Gain | - |
CANX | p.F435Lfs*12 | Frame_Shift_Del | DEL | 0.466 | 2 | - | - |
CAPRIN2 | p.T342Hfs*15 | Frame_Shift_Del | DEL | 0.729 | 3 | Gain | - |
CAPS2 | - | - | - | - | 3 | Gain | - |
CAPZA3 | - | - | - | - | 3 | Gain | - |
CASC1 | - | - | - | - | 3 | Gain | - |
CBLB | p.P668H | Missense | SNP | 0.459 | 2 | - | - |
CBX5 | - | - | - | - | 3 | Gain | - |
CCDC146 | - | - | - | - | 2 | - | AC007000.3--CCDC146 |
CCDC184 | - | - | - | - | 3 | Gain | - |
CCDC38 | - | - | - | - | 3 | Gain | - |
CCDC59 | - | - | - | - | 3 | Gain | - |
CCDC60 | - | - | - | - | 3 | Gain | - |
CCDC62 | - | - | - | - | 3 | Gain | - |
CCDC63 | - | - | - | - | 3 | Gain | - |
CCDC65 | - | - | - | - | 3 | Gain | - |
CCDC77 | - | - | - | - | 3 | Gain | - |
CCDC91 | - | - | - | - | 3 | Gain | - |
CCDC92 | - | - | - | - | 3 | Gain | - |
CCER1 | - | - | - | - | 3 | Gain | - |
CCND2 | - | - | - | - | 3 | Gain | - |
CCNT1 | - | - | - | - | 3 | Gain | - |
CCT2 | - | - | - | - | 3 | Gain | - |
CD163 | - | - | - | - | 3 | Gain | - |
CD163L1 | - | - | - | - | 3 | Gain | - |
CD27 | - | - | - | - | 3 | Gain | - |
CD4 | - | - | - | - | 3 | Gain | - |
CD5L | p.A19V | Missense | SNP | 0.549 | 2 | - | - |
CD63 | - | - | - | - | 3 | Gain | - |
CD69 | - | - | - | - | 3 | Gain | - |
CD9 | - | - | - | - | 3 | Gain | - |
CDC7 | p.N31Tfs*51 | Frame_Shift_Del | DEL | 0.364 | 2 | - | - |
CDCA3 | - | - | - | - | 3 | Gain | - |
CDH2 | p.A30T | Missense | SNP | 0.469 | 2 | - | - |
CDK17 | - | - | - | - | 3 | Gain | - |
CDK2 | - | - | - | - | 3 | Gain | - |
CDK2AP1 | - | - | - | - | 3 | Gain | - |
CDK4 | - | - | - | - | 3 | Gain | - |
CDK8 | p.G348S | Missense | SNP | 0.610 | 2 | - | - |
CDKN1B | - | - | - | - | 3 | Gain | - |
CELA1 | - | - | - | - | 3 | Gain | - |
CEP152 | p.A387T | Missense | SNP | 0.514 | 2 | - | - |
CEP290 | - | - | - | - | 3 | Gain | - |
CEP83 | - | - | - | - | 3 | Gain | - |
CEPT1 | p.A396V | Missense | SNP | 0.563 | 2 | - | - |
CERS5 | - | - | - | - | 3 | Gain | - |
CFAP54 | - | - | - | - | 3 | Gain | - |
CFAP73 | - | - | - | - | 3 | Gain | - |
CHD4 | - | - | - | - | 3 | Gain | - |
CHD5 | p.V213A | Missense | SNP | 0.455 | 2 | - | - |
CHD6 | p.R895C | Missense | SNP | 0.550 | 2 | - | - |
CHFR | - | - | - | - | 3 | Gain | - |
CHPT1 | - | - | - | - | 3 | Gain | - |
CHST11 | - | - | - | - | 3 | Gain | - |
CIT | - | - | - | - | 3 | Gain | - |
CKAP4 | - | - | - | - | 3 | Gain | - |
CLEC12A | - | - | - | - | 3 | Gain | - |
CLEC12B | - | - | - | - | 3 | Gain | - |
CLEC1A | - | - | - | - | 3 | Gain | - |
CLEC1B | - | - | - | - | 3 | Gain | - |
CLEC2A | - | - | - | - | 3 | Gain | - |
CLEC2B | - | - | - | - | 3 | Gain | - |
CLEC2D | - | - | - | - | 3 | Gain | - |
CLEC4A | - | - | - | - | 3 | Gain | - |
CLEC4C | - | - | - | - | 3 | Gain | - |
CLEC4D | - | - | - | - | 3 | Gain | - |
CLEC4E | - | - | - | - | 3 | Gain | - |
CLEC6A | - | - | - | - | 3 | Gain | - |
CLEC7A | - | - | - | - | 3 | Gain | - |
CLEC9A | - | - | - | - | 3 | Gain | - |
CLECL1 | - | - | - | - | 3 | Gain | - |
CLIP1 | - | - | - | - | 3 | Gain | - |
CLLU1OS | - | - | - | - | 3 | Gain | - |
CLOCK | p.L123* | Frame_Shift_Del | DEL | 0.476 | 2 | - | - |
CLSTN3 | - | - | - | - | 3 | Gain | - |
CMAS | - | - | - | - | 3 | Gain | - |
CMKLR1 | - | - | - | - | 3 | Gain | - |
CNOT2 | - | - | - | - | 3 | Gain | - |
CNPY2 | - | - | - | - | 3 | Gain | - |
CNTN1 | - | - | - | - | 3 | Gain | - |
CNTN2 | p.G93Afs*6 | Frame_Shift_Del | DEL | 0.450 | 2 | - | - |
CNTNAP1 | p.R1058H | Missense | SNP | 0.574 | 2 | - | - |
COIL | p.K196Rfs*13 | Frame_Shift_Del | DEL | 0.453 | 2 | - | - |
COL11A2 | p.P345Lfs*79 | Frame_Shift_Del | DEL | 0.385 | 2 | - | - |
COL12A1 | p.S661Ffs*13 | Frame_Shift_Ins | INS | 0.315 | 2 | - | - |
COL2A1 | - | - | - | - | 3 | Gain | - |
COL4A3 | p.P1466S | Missense | SNP | 0.440 | 2 | - | - |
COL5A2 | - | - | - | - | 1 | Loss | - |
COLEC12 | p.K656Nfs*4 | Frame_Shift_Del | DEL | 0.422 | 2 | - | - |
COPS7A | - | - | - | - | 3 | Gain | - |
COPZ1 | - | - | - | - | 3 | Gain | - |
COQ10A | - | - | - | - | 3 | Gain | - |
COQ5 | - | - | - | - | 3 | Gain | - |
CORO1C | - | - | - | - | 3 | Gain | - |
COX14 | - | - | - | - | 3 | Gain | - |
COX6A1 | - | - | - | - | 3 | Gain | - |
CPM | - | - | - | - | 3 | Gain | - |
CPNE8 | - | - | - | - | 3 | Gain | - |
CPSF6 | - | - | - | - | 3 | Gain | - |
CR1 | p.A2252T | Missense | SNP | 0.533 | 2 | - | - |
CRACR2A | - | - | - | - | 3 | Gain | - |
CRADD | - | - | - | - | 3 | Gain | - |
CREBBP | p.I1084Nfs*3 | Frame_Shift_Ins | INS | 0.320 | 2 | - | - |
CREBL2 | - | - | - | - | 3 | Gain | - |
CRTC1 | p.E443Rfs*24 | Frame_Shift_Ins | INS | 0.066 | 2 | - | - |
CRY1 | - | - | - | - | 3 | Gain | - |
CS | - | - | - | - | 3 | Gain | - |
CSAD | - | - | - | - | 3 | Gain | - |
CSRNP2 | - | - | - | - | 3 | Gain | - |
CSRP2 | - | - | - | - | 3 | Gain | - |
CSTF2T | p.R373H | Missense | SNP | 0.080 | 2 | - | - |
CTDSP2 | - | - | - | - | 3 | Gain | - |
CUX1 | p.P442Sfs*16 | Frame_Shift_Ins | INS | 0.274 | 2 | - | - |
CUX2 | - | - | - | - | 3 | Gain | - |
CYB5R4 | p.E248Rfs*12 | Frame_Shift_Del | DEL | 0.591 | 2 | - | - |
CYP27B1 | - | - | - | - | 3 | Gain | - |
CYSLTR1 | p.A140Sfs*28 | Frame_Shift_Ins | INS | 0.327 | ND | ND | - |
DAO | - | - | - | - | 3 | Gain | - |
DAZAP2 | - | - | - | - | 3 | Gain | - |
DAZL | p.S47I | Missense | SNP | 0.084 | 2 | - | - |
DBX1 | p.R175C | Missense | SNP | 0.462 | 2 | - | - |
DBX2 | - | - | - | - | 3 | Gain | - |
DCD | - | - | - | - | 3 | Gain | - |
DCN | - | - | - | - | 3 | Gain | - |
DCP1A | p.S296Afs*8 | Frame_Shift_Del | DEL | 0.470 | 2 | - | - |
DCP1B | - | - | - | - | 3 | Gain | - |
DCTN2 | - | - | - | - | 3 | Gain | - |
DDIT3 | - | - | - | - | 3 | Gain | - |
DDN | - | - | - | - | 3 | Gain | - |
DDX11 | - | - | - | - | 3 | Gain | - |
DDX17 | p.K121Sfs*4 | Frame_Shift_Del | DEL | 0.473 | 2 | - | - |
DDX23 | - | - | - | - | 3 | Gain | - |
DDX47 | - | - | - | - | 3 | Gain | - |
DDX51 | - | - | - | - | 3 | Gain | - |
DDX54 | - | - | - | - | 3 | Gain | - |
DDX55 | - | - | - | - | 3 | Gain | - |
DDX60 | p.L1133Yfs*4 | Frame_Shift_Del | DEL | 0.963 | 2 | - | - |
DENND5B | - | - | - | - | 3 | Gain | - |
DENR | - | - | - | - | 3 | Gain | - |
DEPDC4 | - | - | - | - | 3 | Gain | - |
DERA | - | - | - | - | 3 | Gain | - |
DGKA | - | - | - | - | 3 | Gain | - |
DHH | - | - | - | - | 3 | Gain | - |
DHX37 | - | - | - | - | 3 | Gain | - |
DIABLO | - | - | - | - | 3 | Gain | - |
DIP2B | - | - | - | - | 3 | Gain | - |
DLD | p.V212Ffs*12 | Frame_Shift_Del | DEL | 0.516 | 2 | - | - |
DLG5 | p.A1007V | Missense | SNP | 0.505 | 2 | - | - |
DMD | p.L996I | Missense | SNP | 0.423 | ND | ND | - |
DNAH10 | - | - | - | - | 3 | Gain | - |
DNAJC14 | - | - | - | - | 3 | Gain | - |
DNAJC22 | - | - | - | - | 3 | Gain | - |
DNM1L | - | - | - | - | 3 | Gain | - |
DOCK8 | p.F1113Lfs*2 | Frame_Shift_Del | DEL | 0.405 | 2 | - | - |
DPPA3 | - | - | - | - | 3 | Gain | - |
DPY19L2 | - | - | - | - | 3 | Gain | - |
DRAM1 | - | - | - | - | 3 | Gain | - |
DSEL | p.S472R | Missense | SNP | 0.545 | 2 | - | - |
DST | p.K3804Nfs*2 | Frame_Shift_Del | DEL | 0.532 | 2 | - | - |
DTX1 | - | - | - | - | 3 | Gain | - |
DTX3 | - | - | - | - | 3 | Gain | - |
DTX4 | p.G510Afs*35 | Frame_Shift_Del | DEL | 0.396 | 2 | - | - |
DUSP16 | - | - | - | - | 3 | Gain | - |
DUSP6 | - | - | - | - | 3 | Gain | - |
DYNC2H1 | p.I399* | Frame_Shift_Del | DEL | 0.417 | 2 | - | - |
DYNLL1 | - | - | - | - | 3 | Gain | - |
DYRK2 | - | - | - | - | 3 | Gain | - |
DYRK4 | - | - | - | - | 3 | Gain | - |
E2F7 | - | - | - | - | 3 | Gain | - |
ECEL1 | p.R332W | Missense | SNP | 0.521 | 2 | - | - |
EDA2R | p.G156W | Missense | SNP | 0.509 | ND | ND | - |
EDC4 | p.R67Q | Missense | SNP | 0.492 | 2 | - | - |
EEA1 | - | - | - | - | 3 | Gain | - |
EEF1AKMT3 | - | - | - | - | 3 | Gain | - |
EID3 | - | - | - | - | 3 | Gain | - |
EIF2B1 | - | - | - | - | 3 | Gain | - |
EIF2S3B | - | - | - | - | 3 | Gain | - |
EIF4B | - | - | - | - | 3 | Gain | - |
ELK3 | - | - | - | - | 3 | Gain | - |
EMB | - | - | - | - | 1 | Loss | - |
EMG1 | - | - | - | - | 3 | Gain | - |
EML6 | p.R255* | Nonsense | SNP | 0.556 | 2 | - | - |
EMP1 | - | - | - | - | 3 | Gain | - |
ENDOU | - | - | - | - | 3 | Gain | - |
ENO2 | - | - | - | - | 3 | Gain | - |
EP400 | - | - | - | - | 3 | Gain | - |
EPHA2 | p.P460Rfs*33 | Frame_Shift_Del | DEL | 0.413 | 2 | - | - |
EPS8 | - | - | - | - | 3 | Gain | - |
EPYC | - | - | - | - | 3 | Gain | - |
ERBB3 | - | - | - | - | 3 | Gain | - |
ERC1 | - | - | - | - | 3 | Gain | - |
ERGIC2 | - | - | - | - | 3 | Gain | - |
ERP27 | - | - | - | - | 3 | Gain | - |
ERP29 | - | - | - | - | 3 | Gain | - |
ESPL1 | - | - | - | - | 3 | Gain | - |
ESYT1 | - | - | - | - | 3 | Gain | - |
ETFBKMT | - | - | - | - | 3 | Gain | - |
ETFRF1 | - | - | - | - | 3 | Gain | - |
ETNK1 | - | - | - | - | 3 | Gain | - |
ETV6 | - | - | - | - | 3 | Gain | - |
EXO1 | p.D731Tfs*4 | Frame_Shift_Del | DEL | 0.434 | 2 | - | - |
F13A1 | p.P290Hfs*72 | Frame_Shift_Del | DEL | 0.458 | 2 | - | - |
FAHD2B | p.P281Qfs*26 | Frame_Shift_Del | DEL | 0.072 | 2 | - | - |
FAIM2 | - | - | - | - | 3 | Gain | - |
FAM110B | p.R204H | Missense | SNP | 0.516 | 2 | - | - |
FAM186A | - | - | - | - | 3 | Gain | - |
FAM186B | - | - | - | - | 3 | Gain | - |
FAM19A2 | - | - | - | - | 3 | Gain | - |
FAM216A | - | - | - | - | 3 | Gain | - |
FAM222A | - | - | - | - | 3 | Gain | - |
FAM234B | - | - | - | - | 3 | Gain | - |
FAM71C | - | - | - | - | 3 | Gain | - |
FAM83H | p.E474K | Missense | SNP | 0.401 | 2 | - | - |
FAR2 | - | - | - | - | 3 | Gain | - |
FBRSL1 | - | - | - | - | 3 | Gain | - |
FBXL14 | - | - | - | - | 3 | Gain | - |
FBXL18 | p.P578H | Missense | SNP | 0.087 | 2 | - | - |
FBXO21 | - | - | - | - | 3 | Gain | - |
FBXW7 | p.R465C | Missense | SNP | 0.503 | 2 | - | - |
FBXW8 | - | - | - | - | 3 | Gain | - |
FEM1A | p.R371C | Missense | SNP | 0.055 | 2 | - | - |
FERMT2 | p.D344N | Missense | SNP | 0.484 | 2 | - | - |
FGD4 | - | - | - | - | 3 | Gain | - |
FGD6 | - | - | - | - | 3 | Gain | - |
FGF13 | p.P23Lfs*19 | Frame_Shift_Del | DEL | 0.535 | ND | ND | - |
FGF22 | p.P149A | Missense | SNP | 0.081 | 2 | - | - |
FGF23 | - | - | - | - | 3 | Gain | - |
FGF6 | - | - | - | - | 3 | Gain | - |
FGFR1OP2 | - | - | - | - | 3 | Gain | - |
FHOD3 | p.S336Vfs*171 | Frame_Shift_Del | DEL | 0.071 | 2 | - | - |
FICD | - | - | - | - | 3 | Gain | - |
FIGNL2 | - | - | - | - | 3 | Gain | - |
FKBP11 | - | - | - | - | 3 | Gain | - |
FKBP3 | p.F145Lfs*18 | Frame_Shift_Del | DEL | 0.474 | 2 | - | - |
FKBP4 | - | - | - | - | 3 | Gain | - |
FLNC | p.A337V | Missense | SNP | 0.504 | 2 | - | - |
FLT4 | p.Q423Rfs*70 | Frame_Shift_Del | DEL | 0.581 | 2 | - | - |
FMN2 | p.Q212del | In_Frame_Del | DEL | 0.360 | 2 | - | - |
FMNL3 | - | - | - | - | 3 | Gain | - |
FNDC1 | p.A653T | Missense | SNP | 0.503 | 2 | - | - |
FOSB | p.V94I | Missense | SNP | 0.495 | 2 | - | - |
FOXG1 | p.T380M | Missense | SNP | 0.491 | 2 | - | - |
FOXJ2 | - | - | - | - | 3 | Gain | - |
FOXM1 | p.E709Nfs*12 | Frame_Shift_Del | DEL | 0.605 | 3 | Gain | - |
FOXN4 | - | - | - | - | 3 | Gain | - |
FRS2 | - | - | - | - | 3 | Gain | - |
FSD2 | p.Q413H | Missense | SNP | 0.487 | 2 | - | - |
FUNDC2 | p.Y127H | Missense | SNP | 0.430 | ND | ND | - |
FZD10 | - | - | - | - | 3 | Gain | - |
FZD4 | p.A13Rfs*48 | Frame_Shift_Del | DEL | 0.442 | 2 | - | - |
G3BP2 | p.R132C | Missense | SNP | 0.440 | 2 | - | - |
GABARAPL1 | - | - | - | - | 3 | Gain | - |
GABBR1 | p.P15Rfs*32 | Frame_Shift_Del | DEL | 0.513 | 2 | - | - |
GALNT6 | - | - | - | - | 3 | Gain | - |
GALNT8 | - | - | - | - | 3 | Gain | - |
GALNT9 | - | - | - | - | 3 | Gain | - |
GAPDH | - | - | - | - | 3 | Gain | - |
GAS2L3 | - | - | - | - | 3 | Gain | - |
GATC | - | - | - | - | 3 | Gain | - |
GBP5 | p.Q551P | Missense | SNP | 0.159 | 2 | - | - |
GCLM | p.A239V | Missense | SNP | 0.076 | 2 | - | - |
GCN1 | - | - | - | - | 3 | Gain | - |
GDF11 | - | - | - | - | 3 | Gain | - |
GDF3 | - | - | - | - | 3 | Gain | - |
GIT2 | - | - | - | - | 3 | Gain | - |
GLI1 | - | - | - | - | 3 | Gain | - |
GLIPR1 | - | - | - | - | 3 | Gain | - |
GLIPR1L1 | - | - | - | - | 3 | Gain | - |
GLIPR1L2 | - | - | - | - | 3 | Gain | - |
GLS2 | - | - | - | - | 3 | Gain | - |
GLT1D1 | - | - | - | - | 3 | Gain | - |
GLT8D2 | - | - | - | - | 3 | Gain | - |
GLTP | - | - | - | - | 3 | Gain | - |
GNB3 | - | - | - | - | 3 | Gain | - |
GNPTAB | - | - | - | - | 3 | Gain | - |
GNS | - | - | - | - | 3 | Gain | - |
GOLGA3 | - | - | - | - | 3 | Gain | - |
GOLPH3L | p.R10H | Missense | SNP | 0.407 | 2 | - | - |
GOLT1B | - | - | - | - | 3 | Gain | - |
GPBAR1 | p.R43C | Missense | SNP | 0.527 | 2 | - | - |
GPC5 | p.R347H | Missense | SNP | 0.485 | 2 | - | - |
GPD1 | - | - | - | - | 3 | Gain | - |
GPLD1 | p.V399M | Missense | SNP | 0.093 | 2 | - | - |
GPN3 | - | - | - | - | 3 | Gain | - |
GPR162 | - | - | - | - | 3 | Gain | - |
GPR182 | - | - | - | - | 3 | Gain | - |
GPR19 | p.N370Tfs*59 | Frame_Shift_Del | DEL | 0.357 | 3 | Gain | - |
GPR84 | - | - | - | - | 3 | Gain | - |
GPRC5A | - | - | - | - | 3 | Gain | - |
GPRC5D | - | - | - | - | 3 | Gain | - |
GRASP | - | - | - | - | 3 | Gain | - |
GRB14 | p.K297Nfs*23 | Frame_Shift_Del | DEL | 0.495 | 2 | - | - |
GRIN2B | - | - | - | - | 3 | Gain | - |
GRIN3A | p.R137H | Missense | SNP | 0.557 | 2 | - | - |
GRIP1 | - | - | - | - | 3 | Gain | - |
GRM7 | p.W590Gfs*3 | Frame_Shift_Del | DEL | 0.420 | 2 | - | - |
GSG1 | - | - | - | - | 3 | Gain | - |
GSG2 | p.S366L | Missense | SNP | 0.627 | ND | ND | - |
GTF2H3 | - | - | - | - | 3 | Gain | - |
GTSF1 | - | - | - | - | 3 | Gain | - |
GUCY2C | - | - | - | - | 3 | Gain | - |
GUK1 | p.E96K | Missense | SNP | 0.087 | 2 | - | - |
GXYLT1 | - | - | - | - | 3 | Gain | - |
GYS2 | - | - | - | - | 3 | Gain | - |
H1FNT | - | - | - | - | 3 | Gain | - |
H2AFJ | - | - | - | - | 3 | Gain | - |
H3F3C | - | - | - | - | 3 | Gain | - |
HAL | - | - | - | - | 3 | Gain | - |
HCAR1 | - | - | - | - | 3 | Gain | - |
HCAR2 | - | - | - | - | 3 | Gain | - |
HCAR3 | - | - | - | - | 3 | Gain | - |
HCFC1R1 | p.M84* | Frame_Shift_Del | DEL | 0.506 | 2 | - | - |
HCFC2 | - | - | - | - | 3 | Gain | - |
HDAC6 | p.G751Afs*16 | Frame_Shift_Del | DEL | 0.437 | ND | ND | - |
HDAC7 | - | - | - | - | 3 | Gain | - |
HEBP1 | - | - | - | - | 3 | Gain | - |
HECA | p.G335Dfs*27 | Frame_Shift_Del | DEL | 0.096 | 2 | - | - |
HECTD1 | p.R1323H | Missense | SNP | 0.471 | 2 | - | - |
HECTD4 | - | - | - | - | 3 | Gain | - |
HECW2 | p.D49N | Missense | SNP | 0.479 | 2 | - | - |
HELB | - | - | - | - | 3 | Gain | - |
HEMK1 | p.G169R | Missense | SNP | 0.533 | 2 | - | - |
HERC5 | p.A879V | Missense | SNP | 0.464 | 2 | - | - |
HIGD1C | - | - | - | - | 3 | Gain | - |
HIP1R | - | - | - | - | 3 | Gain | - |
HIST1H2BK | p.P9T | Missense | SNP | 0.096 | 2 | - | - |
HIST4H4 | - | - | - | - | 3 | Gain | - |
HIVEP2 | p.P2241L | Missense | SNP | 0.529 | 2 | - | - |
HLA-B | p.G124D | Missense | SNP | 0.537 | 2 | - | - |
HMGA2 | - | - | - | - | 3 | Gain | - |
HNF1A | - | - | - | - | 3 | Gain | - |
HNRNPA1 | - | - | - | - | 3 | Gain | - |
HOXC10 | - | - | - | - | 3 | Gain | - |
HOXC11 | - | - | - | - | 3 | Gain | - |
HOXC12 | - | - | - | - | 3 | Gain | - |
HOXC13 | - | - | - | - | 3 | Gain | - |
HOXC4 | - | - | - | - | 3 | Gain | - |
HOXC5 | - | - | - | - | 3 | Gain | - |
HOXC6 | - | - | - | - | 3 | Gain | - |
HOXC8 | - | - | - | - | 3 | Gain | - |
HOXC9 | - | - | - | - | 3 | Gain | - |
HOXD13 | p.P103Qfs*163 | Frame_Shift_Del | DEL | 0.086 | 2 | - | - |
HPD | - | - | - | - | 3 | Gain | - |
HS3ST3A1 | p.V38I | Missense | SNP | 0.527 | 2 | - | - |
HSD17B6 | - | - | - | - | 3 | Gain | - |
HSP90B1 | - | - | - | - | 3 | Gain | - |
HSPB8 | - | - | - | - | 3 | Gain | - |
HTR5A | p.R262L | Missense | SNP | 0.462 | 2 | - | - |
HUWE1 | p.R3971W p.A3801V | Missense Missense | SNP SNP | 0.567 0.530 | ND | ND | - |
HVCN1 | - | - | - | - | 3 | Gain | - |
IAPP | - | - | - | - | 3 | Gain | - |
IFFO1 | - | - | - | - | 3 | Gain | - |
IFIH1 | p.A589Lfs*16 | Frame_Shift_Del | DEL | 0.341 | 2 | - | - |
IFNG | - | - | - | - | 3 | Gain | - |
IFRD1 | p.Y306Mfs*7 | Frame_Shift_Del | DEL | 0.140 | 2 | - | - |
IFT81 | - | - | - | - | 3 | Gain | - |
IGDCC4 | p.S553Afs*2 | Frame_Shift_Del | DEL | 0.364 | 2 | - | - |
IGF1 | - | - | - | - | 3 | Gain | - |
IGFBP6 | - | - | - | - | 3 | Gain | - |
IKBIP | - | - | - | - | 3 | Gain | - |
IKZF4 | - | - | - | - | 3 | Gain | - |
IL22 | - | - | - | - | 3 | Gain | - |
IL23A | - | - | - | - | 3 | Gain | - |
IL26 | - | - | - | - | 3 | Gain | - |
IL31 | - | - | - | - | 3 | Gain | - |
ING4 | - | - | - | - | 3 | Gain | - |
INHBC | - | - | - | - | 3 | Gain | - |
INHBE | - | - | - | - | 3 | Gain | - |
INO80D | p.R553C | Missense | SNP | 0.437 | 2 | - | - |
INPP5K | p.G316D | Missense | SNP | 0.134 | 2 | - | - |
INTS1 | p.A1379T | Missense | SNP | 0.486 | 2 | - | - |
INTS13 | - | - | - | - | 3 | Gain | - |
IPO8 | - | - | - | - | 3 | Gain | - |
IQCD | - | - | - | - | 3 | Gain | - |
IQSEC3 | - | - | - | - | 3 | Gain | - |
IRAK3 | - | - | - | - | 3 | Gain | - |
IRAK4 | - | - | - | - | 3 | Gain | - |
IRX4 | p.A93V | Missense | SNP | 0.504 | 2 | - | - |
ISCU | - | - | - | - | 3 | Gain | - |
ITFG2 | - | - | - | - | 3 | Gain | - |
ITGA5 | - | - | - | - | 3 | Gain | - |
ITGA7 | - | - | - | - | 3 | Gain | - |
ITGB7 | - | - | - | - | 3 | Gain | - |
ITPR2 | - | - | - | - | 3 | Gain | - |
ITSN1 | p.K1075Nfs*26 | Frame_Shift_Del | DEL | 0.475 | 2 | - | - |
JAKMIP1 | p.T512M | Missense | SNP | 0.377 | 2 | - | - |
JMJD4 | p.P259Qfs*18 | Frame_Shift_Del | DEL | 0.087 | 2 | - | - |
KANSL2 | - | - | - | - | 3 | Gain | - |
KCNA1 | - | - | - | - | 3 | Gain | - |
KCNA5 | - | - | - | - | 3 | Gain | - |
KCNA6 | - | - | - | - | 3 | Gain | - |
KCNB2 | p.E146Nfs*3 | Frame_Shift_Del | DEL | 0.526 | 2 | - | - |
KCNC2 | - | - | - | - | 3 | Gain | - |
KCNC3 | p.G627Efs*27 p.P581Rfs*27 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.071 0.294 | 2 | - | - |
KCNH3 | - | - | - | - | 3 | Gain | - |
KCNJ12 | p.K366T | Missense | SNP | 0.162 | 2 | - | - |
KCNJ8 | - | - | - | - | 3 | Gain | - |
KCNMB4 | - | - | - | - | 3 | Gain | - |
KCTD10 | - | - | - | - | 3 | Gain | - |
KDM2B | - | - | - | - | 3 | Gain | - |
KDM5A | - | - | - | - | 3 | Gain | - |
KERA | - | - | - | - | 3 | Gain | - |
KIAA1462 | p.A266T | Missense | SNP | 0.484 | ND | ND | - |
KIAA1551 | - | - | - | - | 3 | Gain | - |
KIF21A | - | - | - | - | 3 | Gain | - |
KIF5A | - | - | - | - | 3 | Gain | - |
KIF6 | p.L204* | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
KITLG | - | - | - | - | 3 | Gain | - |
KLC1 | p.K156Nfs*65 | Frame_Shift_Del | DEL | 0.455 | 2 | - | - |
KLHL34 | p.R288Afs*7 | Frame_Shift_Del | DEL | 0.502 | ND | ND | - |
KLHL42 | - | - | - | - | 3 | Gain | - |
KLRB1 | - | - | - | - | 3 | Gain | - |
KLRC1 | - | - | - | - | 3 | Gain | - |
KLRC2 | - | - | - | - | 3 | Gain | - |
KLRC3 | - | - | - | - | 3 | Gain | - |
KLRC4 | - | - | - | - | 3 | Gain | - |
KLRC4-KLRK1 | - | - | - | - | 3 | Gain | - |
KLRD1 | - | - | - | - | 3 | Gain | - |
KLRF1 | - | - | - | - | 3 | Gain | - |
KLRF2 | - | - | - | - | 3 | Gain | - |
KLRG1 | - | - | - | - | 3 | Gain | - |
KLRK1 | - | - | - | - | 3 | Gain | - |
KMT2D | p.L4921Wfs*74 | Frame_Shift_Del | DEL | 0.223 | 3 | Gain | - |
KMT5A | - | - | - | - | 3 | Gain | - |
KNDC1 | p.A173V | Missense | SNP | 0.476 | 2 | - | - |
KNTC1 | - | - | - | - | 3 | Gain | - |
KPNA7 | p.A321T | Missense | SNP | 0.472 | 2 | - | - |
KRAS | - | - | - | - | 3 | Gain | - |
KRR1 | - | - | - | - | 3 | Gain | - |
KRT1 | - | - | - | - | 3 | Gain | - |
KRT18 | - | - | - | - | 3 | Gain | - |
KRT2 | - | - | - | - | 3 | Gain | - |
KRT3 | - | - | - | - | 3 | Gain | - |
KRT4 | - | - | - | - | 3 | Gain | - |
KRT5 | - | - | - | - | 3 | Gain | - |
KRT6A | - | - | - | - | 3 | Gain | - |
KRT6B | - | - | - | - | 3 | Gain | - |
KRT6C | - | - | - | - | 3 | Gain | - |
KRT7 | - | - | - | - | 3 | Gain | - |
KRT71 | - | - | - | - | 3 | Gain | - |
KRT72 | - | - | - | - | 3 | Gain | - |
KRT73 | - | - | - | - | 3 | Gain | - |
KRT74 | - | - | - | - | 3 | Gain | - |
KRT75 | - | - | - | - | 3 | Gain | - |
KRT76 | - | - | - | - | 3 | Gain | - |
KRT77 | - | - | - | - | 3 | Gain | - |
KRT78 | - | - | - | - | 3 | Gain | - |
KRT79 | - | - | - | - | 3 | Gain | - |
KRT8 | - | - | - | - | 3 | Gain | - |
KRT80 | - | - | - | - | 3 | Gain | - |
KRT81 | - | - | - | - | 3 | Gain | - |
KRT82 | - | - | - | - | 3 | Gain | - |
KRT83 | - | - | - | - | 3 | Gain | - |
KRT84 | - | - | - | - | 3 | Gain | - |
KRT85 | - | - | - | - | 3 | Gain | - |
KRT86 | - | - | - | - | 3 | Gain | - |
KSR2 | - | - | - | - | 3 | Gain | - |
LACRT | - | - | - | - | 3 | Gain | - |
LAG3 | - | - | - | - | 3 | Gain | - |
LALBA | - | - | - | - | 3 | Gain | - |
LARP4 | - | - | - | - | 3 | Gain | - |
LBX1 | p.P239Qfs*56 | Frame_Shift_Del | DEL | 0.510 | 2 | - | - |
LDHB | - | - | - | - | 3 | Gain | - |
LEMD3 | - | - | - | - | 3 | Gain | - |
LETMD1 | - | - | - | - | 3 | Gain | - |
LGR5 | - | - | - | - | 3 | Gain | - |
LHX5 | - | - | - | - | 3 | Gain | - |
LIMA1 | - | - | - | - | 3 | Gain | - |
LIN7A | - | - | - | - | 3 | Gain | - |
LINGO1 | p.R338C | Missense | SNP | 0.404 | 2 | - | - |
LLPH | - | - | - | - | 3 | Gain | - |
LMBR1L | - | - | - | - | 3 | Gain | - |
LMNTD1 | - | - | - | - | 3 | Gain | - |
LMO3 | - | - | - | - | 3 | Gain | - |
LPAR5 | - | - | - | - | 3 | Gain | - |
LPCAT3 | - | - | - | - | 3 | Gain | - |
LRCOL1 | - | - | - | - | 3 | Gain | - |
LRFN5 | p.T584M | Missense | SNP | 0.463 | 2 | - | - |
LRIG3 | - | - | - | - | 3 | Gain | - |
LRMP | - | - | - | - | 3 | Gain | - |
LRP1 | - | - | - | - | 3 | Gain | - |
LRP2 | p.S450Ffs*3 | Frame_Shift_Ins | INS | 0.241 | 2 | - | - |
LRP6 | - | - | - | - | 3 | Gain | - |
LRRC10 | - | - | - | - | 3 | Gain | - |
LRRC23 | - | - | - | - | 3 | Gain | - |
LRRC43 | - | - | - | - | 3 | Gain | - |
LRRC8D | p.A121T | Missense | SNP | 0.492 | 2 | - | - |
LRRIQ1 | p.R359M | Missense | SNP | 0.548 | 3 | Gain | - |
LRRK2 | p.T2141M | Missense | SNP | 0.299 | 3 | Gain | - |
LRRTM4 | p.G562S | Missense | SNP | 0.494 | 2 | - | - |
LRTM2 | - | - | - | - | 3 | Gain | - |
LTA4H | - | - | - | - | 3 | Gain | - |
LTBP2 | p.R15W | Missense | SNP | 0.470 | 2 | - | - |
LTBR | - | - | - | - | 3 | Gain | - |
LUM | - | - | - | - | 3 | Gain | - |
LYST | p.L1289F | Missense | SNP | 0.462 | 2 | - | - |
LYZ | - | - | - | - | 3 | Gain | - |
M6PR | - | - | - | - | 3 | Gain | - |
MAB21L1 | p.A235V | Missense | SNP | 0.070 | 2 | - | - |
MAGEC2 | p.A165V | Missense | SNP | 0.094 | ND | ND | - |
MAGOHB | - | - | - | - | 3 | Gain | - |
MAMDC4 | p.R369Gfs*174 | Frame_Shift_Del | DEL | 0.324 | 2 | - | - |
MANSC1 | - | - | - | - | 3 | Gain | - |
MANSC4 | - | - | - | - | 3 | Gain | - |
MAP1LC3B2 | - | - | - | - | 3 | Gain | - |
MAP2K5 | p.I155Yfs*2 | Frame_Shift_Del | DEL | 0.098 | 2 | - | - |
MAP3K12 | - | - | - | - | 3 | Gain | - |
MAP3K6 | p.V171I | Missense | SNP | 0.490 | 2 | - | - |
MAPKAPK5 | - | - | - | - | 3 | Gain | - |
MARCH9 | - | - | - | - | 3 | Gain | - |
MARS | - | - | - | - | 3 | Gain | - |
MBD3 | p.E275K | Missense | SNP | 0.538 | 2 | - | - |
MBD6 | - | - | - | - | 3 | Gain | - |
MCM6 | p.A502T | Missense | SNP | 0.535 | 2 | - | - |
MCRS1 | - | - | - | - | 3 | Gain | - |
MDM1 | - | - | - | - | 3 | Gain | - |
MDM2 | - | - | - | - | 3 | Gain | - |
MED13L | - | - | - | - | 3 | Gain | - |
MED21 | - | - | - | - | 3 | Gain | - |
MED23 | p.R872C | Missense | SNP | 0.147 | 2 | - | - |
METAP2 | - | - | - | - | 3 | Gain | - |
METTL1 | - | - | - | - | 3 | Gain | - |
METTL25 | - | - | - | - | 3 | Gain | - |
METTL7A | - | - | - | - | 3 | Gain | - |
METTL7B | - | - | - | - | 3 | Gain | - |
MFAP5 | - | - | - | - | 3 | Gain | - |
MFSD5 | - | - | - | - | 3 | Gain | - |
MGAT4C | p.R303H | Missense | SNP | 0.671 | 3 | Gain | - |
MGP | - | - | - | - | 3 | Gain | - |
MGST1 | - | - | - | - | 3 | Gain | - |
MICAL3 | p.R1499Gfs*106 | Frame_Shift_Del | DEL | 0.450 | 2 | - | - |
MIP | - | - | - | - | 3 | Gain | - |
MIS18BP1 | p.N380Ifs*3 | Frame_Shift_Del | DEL | 0.471 | 2 | - | - |
MLEC | - | - | - | - | 3 | Gain | - |
MLF2 | - | - | - | - | 3 | Gain | - |
MLXIP | - | - | - | - | 3 | Gain | - |
MMAB | - | - | - | - | 3 | Gain | - |
MMP17 | - | - | - | - | 3 | Gain | - |
MMP19 | - | - | - | - | 3 | Gain | - |
MON2 | - | - | - | - | 3 | Gain | - |
MORN3 | - | - | - | - | 3 | Gain | - |
MPHOSPH9 | - | - | - | - | 3 | Gain | - |
MROH2B | p.R453M | Missense | SNP | 0.429 | 2 | - | - |
MRPL42 | - | - | - | - | 3 | Gain | - |
MRPL51 | - | - | - | - | 3 | Gain | - |
MRPS35 | - | - | - | - | 3 | Gain | - |
MSI1 | - | - | - | - | 3 | Gain | - |
MSRB3 | - | - | - | - | 3 | Gain | - |
MTERF2 | - | - | - | - | 3 | Gain | - |
MTPAP | p.A219D | Missense | SNP | 0.303 | 2 | - | - |
MTSS1L | p.G560Afs*34 | Frame_Shift_Del | DEL | 0.464 | 2 | - | - |
MUC16 | p.S7713Lfs*5 | Frame_Shift_Del | DEL | 0.460 | 2 | - | - |
MUC19 | - | - | - | - | 3 | Gain | - |
MUC4 | p.P2768S | Missense | SNP | 0.128 | 2 | - | - |
MUCL1 | - | - | - | - | 3 | Gain | - |
MVK | - | - | - | - | 3 | Gain | - |
MYBPC1 | - | - | - | - | 3 | Gain | - |
MYCBPAP | p.R725W | Missense | SNP | 0.514 | 2 | - | - |
MYCT1 | p.F29Sfs*28 | Frame_Shift_Del | DEL | 0.509 | 2 | - | - |
MYF5 | - | - | - | - | 3 | Gain | - |
MYF6 | - | - | - | - | 3 | Gain | - |
MYL2 | - | - | - | - | 3 | Gain | - |
MYL6 | - | - | - | - | 3 | Gain | - |
MYL6B | - | - | - | - | 3 | Gain | - |
MYO1A | - | - | - | - | 3 | Gain | - |
MYO1H | - | - | - | - | 3 | Gain | - |
MYRFL | - | - | - | - | 3 | Gain | - |
NAA25 | - | - | - | - | 3 | Gain | - |
NAB2 | - | - | - | - | 3 | Gain | - |
NABP2 | - | - | - | - | 3 | Gain | - |
NACA | - | - | - | - | 3 | Gain | - |
NANOG | - | - | - | - | 3 | Gain | - |
NANOGNB | - | - | - | - | 3 | Gain | - |
NAP1L1 | - | - | - | - | 3 | Gain | - |
NAV3 | - | - | - | - | 3 | Gain | - |
NCAPD2 | - | - | - | - | 3 | Gain | - |
NCKAP1L | - | - | - | - | 3 | Gain | - |
NCKAP5L | - | - | - | - | 3 | Gain | - |
NCOA3 | p.R218C | Missense | SNP | 0.472 | 2 | - | - |
NCOR2 | - | - | - | - | 3 | Gain | - |
NDN | p.A209T | Missense | SNP | 0.085 | 2 | - | - |
NDST1 | p.R875Q | Missense | SNP | 0.460 | 2 | - | - |
NDUFA12 | - | - | - | - | 3 | Gain | - |
NDUFA4L2 | - | - | - | - | 3 | Gain | - |
NDUFA9 | - | - | - | - | 3 | Gain | - |
NECAP1 | - | - | - | - | 3 | Gain | - |
NEDD1 | - | - | - | - | 3 | Gain | - |
NELL2 | - | - | - | - | 3 | Gain | - |
NEMP1 | - | - | - | - | 3 | Gain | - |
NEUROD4 | - | - | - | - | 3 | Gain | - |
NFATC4 | p.P88Rfs*69 | Frame_Shift_Del | DEL | 0.457 | 2 | - | - |
NFE2 | - | - | - | - | 3 | Gain | - |
NFX1 | p.S95L | Missense | SNP | 0.067 | 2 | - | - |
NFYB | - | - | - | - | 3 | Gain | - |
NINJ2 | - | - | - | - | 3 | Gain | - |
NIPBL | p.K603Sfs*11 | Frame_Shift_Del | DEL | 0.385 | 2 | - | - |
NLRP11 | p.R122C | Missense | SNP | 0.461 | 2 | - | - |
NOC4L | - | - | - | - | 3 | Gain | - |
NOP2 | - | - | - | - | 3 | Gain | - |
NOS1 | p.G676Afs*64 p.P272T | Frame_Shift_Del Missense | DEL SNP | 0.331 0.559 | 3 | Gain | - |
NPFF | - | - | - | - | 3 | Gain | - |
NR1H4 | - | - | - | - | 3 | Gain | - |
NR2C1 | - | - | - | - | 3 | Gain | - |
NR2F2 | p.A304V | Missense | SNP | 0.501 | 2 | - | - |
NR4A1 | - | - | - | - | 3 | Gain | - |
NRAP | p.Y1041H | Missense | SNP | 0.463 | 2 | - | - |
NRIP2 | - | - | - | - | 3 | Gain | - |
NT5DC3 | - | - | - | - | 3 | Gain | - |
NTF3 | - | - | - | - | 3 | Gain | - |
NTN4 | - | - | - | - | 3 | Gain | - |
NTRK3 | p.T283M | Missense | SNP | 0.444 | 2 | - | - |
NTS | - | - | - | - | 3 | Gain | - |
NUAK1 | - | - | - | - | 3 | Gain | - |
NUDT4 | - | - | - | - | 3 | Gain | - |
NUP107 | - | - | - | - | 3 | Gain | - |
NUP37 | - | - | - | - | 3 | Gain | - |
NXPH4 | - | - | - | - | 3 | Gain | - |
OAS1 | - | - | - | - | 3 | Gain | - |
OAS2 | - | - | - | - | 3 | Gain | - |
OAS3 | - | - | - | - | 3 | Gain | - |
OASL | - | - | - | - | 3 | Gain | - |
OBSCN | p.R8923C | Missense | SNP | 0.421 | 2 | - | - |
OGFOD2 | - | - | - | - | 3 | Gain | - |
OLR1 | - | - | - | - | 3 | Gain | - |
OR10A7 | - | - | - | - | 3 | Gain | - |
OR10AD1 | - | - | - | - | 3 | Gain | - |
OR10P1 | - | - | - | - | 3 | Gain | - |
OR1C1 | p.A47V | Missense | SNP | 0.503 | 2 | - | - |
OR2AP1 | - | - | - | - | 3 | Gain | - |
OR4D5 | p.R233H | Missense | SNP | 0.550 | 2 | - | - |
OR51E1 | p.A156Lfs*3 | Frame_Shift_Del | DEL | 0.054 | 2 | - | - |
OR52K1 | p.R153Q | Missense | SNP | 0.480 | 2 | - | - |
OR5BS1P | - | - | - | - | 3 | Gain | - |
OR6C1 | - | - | - | - | 3 | Gain | - |
OR6C2 | - | - | - | - | 3 | Gain | - |
OR6C3 | - | - | - | - | 3 | Gain | - |
OR6C4 | - | - | - | - | 3 | Gain | - |
OR6C6 | - | - | - | - | 3 | Gain | - |
OR6C65 | - | - | - | - | 3 | Gain | - |
OR6C68 | - | - | - | - | 3 | Gain | - |
OR6C70 | - | - | - | - | 3 | Gain | - |
OR6C74 | - | - | - | - | 3 | Gain | - |
OR6C75 | p.L200* | Frame_Shift_Del | DEL | 0.549 | 3 | Gain | - |
OR6C76 | - | - | - | - | 3 | Gain | - |
OR8S1 | - | - | - | - | 3 | Gain | - |
OR9K2 | - | - | - | - | 3 | Gain | - |
ORAI1 | - | - | - | - | 3 | Gain | - |
ORMDL2 | - | - | - | - | 3 | Gain | - |
OS9 | - | - | - | - | 3 | Gain | - |
OSBPL8 | - | - | - | - | 3 | Gain | - |
OTOGL | - | - | - | - | 3 | Gain | - |
OVCH1 | - | - | - | - | 3 | Gain | - |
P2RX2 | - | - | - | - | 3 | Gain | - |
P2RX4 | - | - | - | - | 3 | Gain | - |
P2RX7 | - | - | - | - | 3 | Gain | - |
P3H3 | - | - | - | - | 3 | Gain | - |
PA2G4 | - | - | - | - | 3 | Gain | - |
PAH | - | - | - | - | 3 | Gain | - |
PAN2 | - | - | - | - | 3 | Gain | - |
PAQR5 | p.R29H | Missense | SNP | 0.519 | 2 | - | - |
PARP11 | - | - | - | - | 3 | Gain | - |
PARP8 | - | - | - | - | 1 | Loss | - |
PARPBP | - | - | - | - | 3 | Gain | - |
PAWR | - | - | - | - | 3 | Gain | - |
PAX6 | p.P389Hfs*7 | Frame_Shift_Del | DEL | 0.416 | 2 | - | - |
PCBP2 | - | - | - | - | 3 | Gain | - |
PCDHA7 | p.A562T | Missense | SNP | 0.491 | 2 | - | - |
PCDHB3 | p.A719V | Missense | SNP | 0.667 | 2 | - | - |
PCDHGA1 | p.A696V | Missense | SNP | 0.544 | 2 | - | - |
PCED1B | - | - | - | - | 3 | Gain | - |
PCMTD1 | p.R162Q | Missense | SNP | 0.442 | 2 | - | - |
PDE1B | - | - | - | - | 3 | Gain | - |
PDE3A | - | - | - | - | 3 | Gain | - |
PDE6H | - | - | - | - | 3 | Gain | - |
PDPR | p.R427H | Missense | SNP | 0.192 | 2 | - | - |
PDZRN4 | - | - | - | - | 3 | Gain | - |
PEBP1 | - | - | - | - | 3 | Gain | - |
PEX5 | - | - | - | - | 3 | Gain | - |
PFDN5 | - | - | - | - | 3 | Gain | - |
PFKM | - | - | - | - | 3 | Gain | - |
PFN3 | p.G68Afs*43 | Frame_Shift_Del | DEL | 0.453 | 2 | - | - |
PGAM5 | - | - | - | - | 3 | Gain | - |
PHACTR4 | p.K61E | Missense | SNP | 0.682 | 2 | - | - |
PHAX | p.M185Nfs*32 | Frame_Shift_Ins | INS | 0.313 | 2 | - | - |
PHB2 | - | - | - | - | 3 | Gain | - |
PHC1 | - | - | - | - | 3 | Gain | - |
PHETA1 | - | - | - | - | 3 | Gain | - |
PHLDA1 | - | - | - | - | 3 | Gain | - |
PIANP | - | - | - | - | 3 | Gain | - |
PIEZO2 | p.Q1534Afs*8 | Frame_Shift_Ins | INS | 0.083 | 2 | - | - |
PIK3C2G | - | - | - | - | 3 | Gain | - |
PIK3CA | p.H1047R | Missense | SNP | 0.477 | 2 | - | - |
PIK3R3 | p.M295* | Frame_Shift_Del | DEL | 0.483 | 2 | - | - |
PIP4K2C | - | - | - | - | 3 | Gain | - |
PITPNM2 | - | - | - | - | 3 | Gain | - |
PIWIL1 | - | - | - | - | 3 | Gain | - |
PKP2 | - | - | - | - | 3 | Gain | - |
PLA2G1B | - | - | - | - | 3 | Gain | - |
PLBD1 | - | - | - | - | 3 | Gain | - |
PLBD2 | - | - | - | - | 3 | Gain | - |
PLCZ1 | - | - | - | - | 3 | Gain | - |
PLEKHA5 | - | - | - | - | 3 | Gain | - |
PLEKHG6 | - | - | - | - | 3 | Gain | - |
PLEKHG7 | - | - | - | - | 3 | Gain | - |
PLEKHN1 | p.R269H | Missense | SNP | 0.556 | 2 | - | - |
PLXNB1 | p.G179Vfs*41 | Frame_Shift_Del | DEL | 0.494 | 2 | - | - |
PLXNC1 | - | - | - | - | 3 | Gain | - |
PMCH | - | - | - | - | 3 | Gain | - |
PMEL | - | - | - | - | 3 | Gain | - |
POC1B | - | - | - | - | 3 | Gain | POC1B--UBC |
POC1B-GALNT4 | - | - | - | - | 3 | Gain | - |
POLE | - | - | - | - | 3 | Gain | - |
POLR2A | p.Q529Rfs*32 | Frame_Shift_Del | DEL | 0.476 | 2 | - | - |
POLR3B | - | - | - | - | 3 | Gain | - |
POP5 | - | - | - | - | 3 | Gain | - |
POU2F2 | p.P148H | Missense | SNP | 0.434 | 2 | - | - |
POU3F2 | p.S429Vfs*60 | Frame_Shift_Del | DEL | 0.467 | 2 | - | - |
POU6F1 | - | - | - | - | 3 | Gain | - |
PPFIA2 | p.A915V | Missense | SNP | 0.310 | 3 | Gain | - |
PPFIBP1 | - | - | - | - | 3 | Gain | - |
PPHLN1 | - | - | - | - | 3 | Gain | - |
PPM1H | - | - | - | - | 3 | Gain | - |
PPP1CC | - | - | - | - | 3 | Gain | - |
PPP1R12A | - | - | - | - | 3 | Gain | - |
PPP1R1A | - | - | - | - | 3 | Gain | - |
PPP1R3F | p.R562C | Missense | SNP | 0.528 | ND | ND | - |
PPP2R1A | p.R459C | Missense | SNP | 0.401 | 2 | - | - |
PPRC1 | p.P1461Hfs*79 | Frame_Shift_Del | DEL | 0.443 | 2 | - | - |
PPTC7 | - | - | - | - | 3 | Gain | - |
PRAMEF12 | p.A223T | Missense | SNP | 0.539 | 2 | - | - |
PRB1 | - | - | - | - | 3 | Gain | - |
PRB2 | - | - | - | - | 3 | Gain | - |
PRB3 | - | - | - | - | 3 | Gain | - |
PRB4 | - | - | - | - | 3 | Gain | - |
PRDM16 | p.S466Afs*3 | Frame_Shift_Del | DEL | 0.100 | 2 | - | - |
PRDM4 | - | - | - | - | 3 | Gain | - |
PRH1 | - | - | - | - | 3 | Gain | - |
PRH1-PRR4 | - | - | - | - | 3 | Gain | - |
PRH2 | - | - | - | - | 3 | Gain | - |
PRICKLE1 | - | - | - | - | 3 | Gain | - |
PRICKLE2 | p.M590T | Missense | SNP | 0.448 | 2 | - | - |
PRIM1 | - | - | - | - | 3 | Gain | - |
PRKAB1 | - | - | - | - | 3 | Gain | - |
PRKAG1 | - | - | - | - | 3 | Gain | - |
PRLH | p.R69* | Nonsense | SNP | 0.548 | 2 | - | - |
PRMT8 | - | - | - | - | 3 | Gain | - |
PRPF40B | - | - | - | - | 3 | Gain | - |
PRPH | - | - | - | - | 3 | Gain | - |
PRR13 | - | - | - | - | 3 | Gain | - |
PRR32 | p.S14L | Missense | SNP | 0.509 | ND | ND | - |
PRR4 | - | - | - | - | 3 | Gain | - |
PRSS45 | p.T31I | Missense | SNP | 0.491 | 2 | - | - |
PSMD9 | - | - | - | - | 3 | Gain | - |
PTGES3 | - | - | - | - | 3 | Gain | - |
PTHLH | - | - | - | - | 3 | Gain | - |
PTMS | - | - | - | - | 3 | Gain | - |
PTPN11 | - | - | - | - | 3 | Gain | - |
PTPN6 | - | - | - | - | 3 | Gain | - |
PTPRB | - | - | - | - | 3 | Gain | - |
PTPRO | - | - | - | - | 3 | Gain | - |
PTPRQ | - | - | - | - | 3 | Gain | - |
PTPRR | - | - | - | - | 3 | Gain | - |
PTX4 | p.V397M | Missense | SNP | 0.055 | 2 | - | - |
PUS1 | - | - | - | - | 3 | Gain | - |
PUS7L | - | - | - | - | 3 | Gain | - |
PWP1 | - | - | - | - | 3 | Gain | - |
PWWP2A | p.K334Rfs*25 | Frame_Shift_Del | DEL | 0.100 | 2 | - | - |
PXMP2 | - | - | - | - | 3 | Gain | - |
PXN | - | - | - | - | 3 | Gain | - |
PYM1 | - | - | - | - | 3 | Gain | - |
PYROXD1 | - | - | - | - | 3 | Gain | - |
PZP | - | - | - | - | 3 | Gain | - |
R3HDM2 | - | - | - | - | 3 | Gain | - |
RAB21 | - | - | - | - | 3 | Gain | - |
RAB35 | - | - | - | - | 3 | Gain | - |
RAB3IP | - | - | - | - | 3 | Gain | - |
RAB5B | - | - | - | - | 3 | Gain | - |
RABL6 | p.A307T | Missense | SNP | 0.599 | 2 | - | - |
RACGAP1 | - | - | - | - | 3 | Gain | - |
RAD51AP1 | - | - | - | - | 3 | Gain | - |
RAD52 | - | - | - | - | 3 | Gain | - |
RAD9B | - | - | - | - | 3 | Gain | - |
RAN | - | - | - | - | 3 | Gain | - |
RAP1B | - | - | - | - | 3 | Gain | - |
RAPGEF3 | - | - | - | - | 3 | Gain | - |
RARG | - | - | - | - | 3 | Gain | - |
RASAL1 | - | - | - | - | 3 | Gain | - |
RASSF3 | - | - | - | - | 3 | Gain | - |
RASSF8 | - | - | - | - | 3 | Gain | - |
RASSF9 | - | - | - | - | 3 | Gain | - |
RBM19 | - | - | - | - | 3 | Gain | - |
RBM27 | p.K816Nfs*5 | Frame_Shift_Del | DEL | 0.477 | 2 | - | - |
RBMS2 | - | - | - | - | 3 | Gain | - |
RBP5 | - | - | - | - | 3 | Gain | - |
RDH16 | - | - | - | - | 3 | Gain | - |
RDH5 | - | - | - | - | 3 | Gain | - |
RECQL | - | - | - | - | 3 | Gain | - |
REEP1 | p.A171T | Missense | SNP | 0.461 | 2 | - | - |
REP15 | - | - | - | - | 3 | Gain | - |
RERE | p.G92S | Missense | SNP | 0.432 | 2 | - | - |
RERG | - | - | - | - | 3 | Gain | - |
RERGL | - | - | - | - | 3 | Gain | - |
RFC5 | - | - | - | - | 3 | Gain | - |
RFLNA | - | - | - | - | 3 | Gain | - |
RFX4 | - | - | - | - | 3 | Gain | - |
RGS12 | p.K1178Nfs*32 | Frame_Shift_Del | DEL | 0.506 | 2 | - | - |
RHEBL1 | - | - | - | - | 3 | Gain | - |
RHNO1 | - | - | - | - | 3 | Gain | - |
RHOBTB3 | p.M230Nfs*7 | Frame_Shift_Ins | INS | 0.304 | 2 | - | - |
RHOF | - | - | - | - | 3 | Gain | - |
RIC8B | - | - | - | - | 3 | Gain | - |
RIDA | p.K117N | Missense | SNP | 0.633 | 2 | - | - |
RILPL1 | - | - | - | - | 3 | Gain | - |
RILPL2 | - | - | - | - | 3 | Gain | - |
RIMBP2 | - | - | - | - | 3 | Gain | - |
RIMKLB | - | - | - | - | 3 | Gain | - |
RITA1 | - | - | - | - | 3 | Gain | - |
RMDN3 | p.T386Lfs*22 | Frame_Shift_Del | DEL | 0.430 | 2 | - | - |
RND1 | - | - | - | - | 3 | Gain | - |
RNF10 | - | - | - | - | 3 | Gain | - |
RNF151 | p.R131W | Missense | SNP | 0.478 | 2 | - | - |
RNF19A | p.R63Efs*5 | Frame_Shift_Del | DEL | 0.271 | 2 | - | - |
RNF213 | p.A3115T | Missense | SNP | 0.491 | 2 | - | - |
RNF34 | - | - | - | - | 3 | Gain | - |
RNF41 | - | - | - | - | 3 | Gain | - |
RNFT2 | - | - | - | - | 3 | Gain | - |
RNPC3 | - | - | - | - | 1 | Loss | - |
ROCK1 | p.K1307Nfs*3 | Frame_Shift_Del | DEL | 0.817 | 2 | - | - |
RP1 | p.P1282Lfs*12 | Frame_Shift_Del | DEL | 0.433 | 2 | - | - |
RP11-849H4.2 | p.T124M | Missense | SNP | 0.207 | ND | ND | - |
RPAP3 | - | - | - | - | 3 | Gain | - |
RPGR | p.E1051Kfs*38 | Frame_Shift_Del | DEL | 0.376 | ND | ND | - |
RPH3A | - | - | - | - | 3 | Gain | - |
RPL22 | p.K15Rfs*5 | Frame_Shift_Del | DEL | 0.509 | 2 | - | - |
RPL24 | p.R157H | Missense | SNP | 0.621 | 2 | - | - |
RPL41 | - | - | - | - | 3 | Gain | - |
RPL6 | - | - | - | - | 3 | Gain | - |
RPLP0 | - | - | - | - | 3 | Gain | - |
RPS26 | - | - | - | - | 3 | Gain | - |
RSRC2 | - | - | - | - | 3 | Gain | - |
RWDD4 | p.F68Lfs*9 | Frame_Shift_Del | DEL | 0.606 | 2 | - | - |
RXYLT1 | - | - | - | - | 3 | Gain | - |
RYR2 | p.G4401E | Missense | SNP | 0.561 | 2 | - | - |
SARNP | - | - | - | - | 3 | Gain | - |
SART3 | - | - | - | - | 3 | Gain | - |
SBNO1 | - | - | - | - | 3 | Gain | - |
SCAF11 | - | - | - | - | 3 | Gain | - |
SCARB1 | - | - | - | - | 3 | Gain | - |
SCN2A | p.T90M | Missense | SNP | 0.438 | 2 | - | - |
SCN8A | - | - | - | - | 3 | Gain | - |
SCN9A | p.E433Sfs*36 | Frame_Shift_Del | DEL | 0.432 | 2 | - | - |
SCNN1A | - | - | - | - | 3 | Gain | - |
SCUBE2 | p.A197T | Missense | SNP | 0.521 | 2 | - | - |
SCYL2 | - | - | - | - | 3 | Gain | - |
SDR9C7 | - | - | - | - | 3 | Gain | - |
SDS | - | - | - | - | 3 | Gain | - |
SDSL | - | - | - | - | 3 | Gain | - |
SEC16A | p.G1417Afs*47 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
SEC31A | p.I462Lfs*16 | Frame_Shift_Del | DEL | 0.457 | 2 | - | - |
SECISBP2 | p.T153Rfs*20 | Frame_Shift_Del | DEL | 0.491 | 2 | - | - |
SELPLG | - | - | - | - | 3 | Gain | - |
SENP1 | - | - | - | - | 3 | Gain | - |
SETD1B | - | - | - | - | 3 | Gain | - |
SETD5 | p.R618Q | Missense | SNP | 0.494 | 2 | - | - |
SFSWAP | - | - | - | - | 3 | Gain | - |
SGK2 | p.A119V | Missense | SNP | 0.541 | 2 | - | - |
SH2B3 | - | - | - | - | 3 | Gain | - |
SHANK3 | p.A1226Pfs*57 | Frame_Shift_Del | DEL | 0.301 | 2 | - | - |
SHMT2 | - | - | - | - | 3 | Gain | - |
SINHCAF | - | - | - | - | 3 | Gain | - |
SIPA1L3 | p.L1294Wfs*199 | Frame_Shift_Del | DEL | 0.445 | 2 | - | - |
SIRT4 | - | - | - | - | 3 | Gain | - |
SLC11A2 | - | - | - | - | 3 | Gain | - |
SLC15A4 | - | - | - | - | 3 | Gain | - |
SLC15A5 | - | - | - | - | 3 | Gain | - |
SLC16A7 | - | - | - | - | 3 | Gain | - |
SLC17A8 | - | - | - | - | 3 | Gain | - |
SLC19A3 | p.A288T | Missense | SNP | 0.077 | 2 | - | - |
SLC1A7 | p.Q188K | Missense | SNP | 0.507 | 2 | - | - |
SLC25A22 | p.G155Vfs*19 | Frame_Shift_Del | DEL | 0.432 | 2 | - | - |
SLC25A3 | - | - | - | - | 3 | Gain | - |
SLC26A10 | - | - | - | - | 3 | Gain | - |
SLC26A7 | p.K333Nfs*20 | Frame_Shift_Del | DEL | 0.335 | 2 | - | - |
SLC2A13 | p.G592D | Missense | SNP | 0.091 | 3 | Gain | - |
SLC2A14 | - | - | - | - | 3 | Gain | - |
SLC2A2 | p.R365L | Missense | SNP | 0.424 | 2 | - | - |
SLC2A3 | - | - | - | - | 3 | Gain | - |
SLC32A1 | p.A29T | Missense | SNP | 0.188 | 2 | - | - |
SLC35E3 | - | - | - | - | 3 | Gain | - |
SLC38A1 | - | - | - | - | 3 | Gain | - |
SLC38A2 | - | - | - | - | 3 | Gain | - |
SLC38A4 | - | - | - | - | 3 | Gain | - |
SLC39A5 | - | - | - | - | 3 | Gain | - |
SLC41A2 | - | - | - | - | 3 | Gain | - |
SLC48A1 | - | - | - | - | 3 | Gain | - |
SLC4A8 | - | - | - | - | 3 | Gain | - |
SLC5A8 | - | - | - | - | 3 | Gain | - |
SLC6A12 | - | - | - | - | 3 | Gain | - |
SLC6A13 | - | - | - | - | 3 | Gain | - |
SLC6A15 | - | - | - | - | 3 | Gain | - |
SLC6A7 | p.Q278Sfs*82 | Frame_Shift_Del | DEL | 0.428 | 2 | - | - |
SLC7A13 | p.S126Afs*20 | Frame_Shift_Del | DEL | 0.401 | 2 | - | - |
SLC8B1 | - | - | - | - | 3 | Gain | - |
SLC9A8 | p.F182C | Missense | SNP | 0.515 | 2 | - | - |
SLC9C2 | p.R203W | Missense | SNP | 0.571 | 2 | - | - |
SLCO1A2 | - | - | - | - | 3 | Gain | - |
SLCO1B1 | - | - | - | - | 3 | Gain | - |
SLCO1B3 | - | - | - | - | 3 | Gain | - |
SLCO1B7 | - | - | - | - | 3 | Gain | - |
SLCO1C1 | - | - | - | - | 3 | Gain | - |
SMAD2 | p.R114C | Missense | SNP | 0.577 | 2 | - | - |
SMAGP | - | - | - | - | 3 | Gain | - |
SMARCC2 | - | - | - | - | 3 | Gain | - |
SMARCD1 | - | - | - | - | 3 | Gain | - |
SMCO2 | - | - | - | - | 3 | Gain | - |
SMCO3 | - | - | - | - | 3 | Gain | - |
SMUG1 | - | - | - | - | 3 | Gain | - |
SNRNP35 | - | - | - | - | 3 | Gain | - |
SNRPF | - | - | - | - | 3 | Gain | - |
SOAT2 | - | - | - | - | 3 | Gain | - |
SOCS2 | - | - | - | - | 3 | Gain | - |
SOX5 | - | - | - | - | 3 | Gain | - |
SP1 | - | - | - | - | 3 | Gain | - |
SP7 | - | - | - | - | 3 | Gain | - |
SP8 | p.R445C | Missense | SNP | 0.398 | 2 | - | - |
SPATS2 | - | - | - | - | 3 | Gain | - |
SPERT | p.V98M | Missense | SNP | 0.491 | 2 | - | - |
SPIC | - | - | - | - | 3 | Gain | - |
SPPL3 | - | - | - | - | 3 | Gain | - |
SPRYD3 | - | - | - | - | 3 | Gain | - |
SPRYD4 | - | - | - | - | 3 | Gain | - |
SPSB2 | - | - | - | - | 3 | Gain | - |
SPTBN1 | p.R523Q | Missense | SNP | 0.478 | 2 | - | - |
SPX | - | - | - | - | 3 | Gain | - |
SRCAP | p.P1878Hfs*89 | Frame_Shift_Del | DEL | 0.387 | 2 | - | - |
SRGAP1 | - | - | - | - | 3 | Gain | - |
SRGAP2 | p.A1019T | Missense | SNP | 0.519 | 2 | - | - |
SRRM4 | - | - | - | - | 3 | Gain | - |
SRSF9 | - | - | - | - | 3 | Gain | - |
SSH1 | - | - | - | - | 3 | Gain | - |
SSPN | - | - | - | - | 3 | Gain | - |
ST18 | p.N621Ifs*10 | Frame_Shift_Del | DEL | 0.461 | 2 | - | - |
ST8SIA1 | - | - | - | - | 3 | Gain | - |
STAB2 | - | - | - | - | 3 | Gain | - |
STAC3 | - | - | - | - | 3 | Gain | - |
STAT2 | - | - | - | - | 3 | Gain | - |
STAT6 | - | - | - | - | 3 | Gain | - |
STK38L | - | - | - | - | 3 | Gain | - |
STRAP | - | - | - | - | 3 | Gain | - |
STX2 | - | - | - | - | 3 | Gain | - |
STYK1 | - | - | - | - | 3 | Gain | - |
SUDS3 | - | - | - | - | 3 | Gain | - |
SUOX | - | - | - | - | 3 | Gain | - |
SVOP | - | - | - | - | 3 | Gain | - |
SYCE2 | p.W172* | Nonsense | SNP | 0.541 | 2 | - | - |
SYCP3 | - | - | - | - | 3 | Gain | - |
SYNE1 | p.A5404V | Missense | SNP | 0.593 | 2 | - | - |
SYNM | p.D843N | Missense | SNP | 0.522 | 2 | - | - |
SYT1 | - | - | - | - | 3 | Gain | - |
SYT10 | - | - | - | - | 3 | Gain | - |
TAC3 | - | - | - | - | 3 | Gain | - |
TACR1 | p.A115T | Missense | SNP | 0.500 | 2 | - | - |
TAF1C | p.Q534Sfs*28 | Frame_Shift_Del | DEL | 0.123 | 2 | - | - |
TAOK3 | - | - | - | - | 3 | Gain | - |
TAPBPL | - | - | - | - | 3 | Gain | - |
TARBP2 | - | - | - | - | 3 | Gain | - |
TAS2R10 | - | - | - | - | 3 | Gain | - |
TAS2R13 | - | - | - | - | 3 | Gain | - |
TAS2R14 | - | - | - | - | 3 | Gain | - |
TAS2R19 | - | - | - | - | 3 | Gain | - |
TAS2R20 | - | - | - | - | 3 | Gain | - |
TAS2R30 | p.A23V | Missense | SNP | 0.449 | 3 | Gain | - |
TAS2R31 | - | - | - | - | 3 | Gain | - |
TAS2R42 | - | - | - | - | 3 | Gain | - |
TAS2R43 | - | - | - | - | 3 | Gain | - |
TAS2R46 | - | - | - | - | 3 | Gain | - |
TAS2R50 | - | - | - | - | 3 | Gain | - |
TAS2R7 | - | - | - | - | 3 | Gain | - |
TAS2R8 | - | - | - | - | 3 | Gain | - |
TAS2R9 | - | - | - | - | 3 | Gain | - |
TBATA | p.A194T | Missense | SNP | 0.467 | 2 | - | - |
TBC1D15 | - | - | - | - | 3 | Gain | - |
TBC1D30 | - | - | - | - | 3 | Gain | - |
TBK1 | - | - | - | - | 3 | Gain | - |
TBL1XR1 | p.W177R | Missense | SNP | 0.347 | 2 | - | - |
TBX3 | - | - | - | - | 3 | Gain | - |
TBX5 | - | - | - | - | 3 | Gain | - |
TCHHL1 | p.N56K | Missense | SNP | 0.528 | 2 | - | - |
TCHP | - | - | - | - | 3 | Gain | - |
TCP10L | p.G214Vfs*26 | Frame_Shift_Del | DEL | 0.523 | 2 | - | - |
TCP11L2 | - | - | - | - | 3 | Gain | - |
TCTN1 | - | - | - | - | 3 | Gain | - |
TCTN2 | - | - | - | - | 3 | Gain | - |
TDG | - | - | - | - | 3 | Gain | - |
TEAD4 | - | - | - | - | 3 | Gain | - |
TESC | - | - | - | - | 3 | Gain | - |
TESPA1 | - | - | - | - | 3 | Gain | - |
TEX49 | - | - | - | - | 3 | Gain | - |
TEX52 | - | - | - | - | 3 | Gain | - |
TEX9 | p.R298H | Missense | SNP | 0.535 | 2 | - | - |
TFCP2 | - | - | - | - | 3 | Gain | - |
TGFB1I1 | p.T62M | Missense | SNP | 0.447 | 2 | - | - |
TGFBR2 | p.E239* | Nonsense | SNP | 0.509 | 2 | - | - |
TGM3 | p.A468T | Missense | SNP | 0.112 | 2 | - | - |
THAP1 | p.D192G | Missense | SNP | 0.472 | 2 | - | - |
THAP2 | - | - | - | - | 3 | Gain | - |
TIGAR | - | - | - | - | 3 | Gain | - |
TIMD4 | p.A320T | Missense | SNP | 0.669 | 2 | - | - |
TIMELESS | - | - | - | - | 3 | Gain | - |
TIMM50 | p.R217Q | Missense | SNP | 0.426 | 2 | - | - |
TLR9 | p.A164T | Missense | SNP | 0.517 | 2 | - | - |
TM7SF3 | - | - | - | - | 3 | Gain | - |
TMBIM4 | - | - | - | - | 3 | Gain | - |
TMBIM6 | - | - | - | - | 3 | Gain | - |
TMC1 | p.V537I | Missense | SNP | 0.458 | 2 | - | - |
TMCC3 | - | - | - | - | 3 | Gain | - |
TMED2 | - | - | - | - | 3 | Gain | - |
TMEM106C | - | - | - | - | 3 | Gain | - |
TMEM116 | - | - | - | - | 3 | Gain | - |
TMEM117 | - | - | - | - | 3 | Gain | - |
TMEM119 | - | - | - | - | 3 | Gain | - |
TMEM120B | - | - | - | - | 3 | Gain | - |
TMEM132B | - | - | - | - | 3 | Gain | - |
TMEM132C | - | - | - | - | 3 | Gain | - |
TMEM132D | - | - | - | - | 3 | Gain | - |
TMEM161B | p.R354* | Nonsense | SNP | 0.468 | 2 | - | - |
TMEM19 | - | - | - | - | 3 | Gain | - |
TMEM233 | - | - | - | - | 3 | Gain | - |
TMEM25 | p.A219V | Missense | SNP | 0.574 | 2 | - | - |
TMEM263 | - | - | - | - | 3 | Gain | - |
TMEM52B | - | - | - | - | 3 | Gain | - |
TMOD1 | p.N309Tfs*24 | Frame_Shift_Del | DEL | 0.475 | 2 | - | - |
TMPO | - | - | - | - | 3 | Gain | - |
TMPRSS12 | - | - | - | - | 3 | Gain | - |
TMTC1 | - | - | - | - | 3 | Gain | - |
TMTC2 | - | - | - | - | 3 | Gain | - |
TMTC3 | - | - | - | - | 3 | Gain | - |
TNFRSF1A | - | - | - | - | 3 | Gain | - |
TNIP2 | p.D4Tfs*60 | Frame_Shift_Del | DEL | 0.412 | 2 | - | - |
TNK2 | p.P839Rfs*72 | Frame_Shift_Del | DEL | 0.355 | 2 | - | - |
TNS2 | - | - | - | - | 3 | Gain | - |
TP53BP2 | p.V206L | Missense | SNP | 0.535 | 2 | - | - |
TPCN1 | - | - | - | - | 3 | Gain | - |
TPH2 | - | - | - | - | 3 | Gain | - |
TPI1 | - | - | - | - | 3 | Gain | - |
TRAF7 | p.R316C | Missense | SNP | 0.516 | 2 | - | - |
TRAFD1 | - | - | - | - | 3 | Gain | - |
TRHDE | - | - | - | - | 3 | Gain | - |
TRIAP1 | - | - | - | - | 3 | Gain | - |
TRIM56 | p.Q373E | Missense | SNP | 0.411 | 2 | - | - |
TROAP | - | - | - | - | 3 | Gain | - |
TRPM2 | p.A177Pfs*6 | Frame_Shift_Del | DEL | 0.473 | 2 | - | - |
TRPM5 | p.Q762Rfs*35 | Frame_Shift_Del | DEL | 0.467 | 2 | - | - |
TRPM8 | p.R223W | Missense | SNP | 0.505 | 2 | - | - |
TRPV4 | - | - | - | - | 3 | Gain | - |
TSFM | - | - | - | - | 3 | Gain | - |
TSPAN11 | - | - | - | - | 3 | Gain | - |
TSPAN19 | - | - | - | - | 3 | Gain | - |
TSPAN31 | - | - | - | - | 3 | Gain | - |
TSPAN8 | - | - | - | - | 3 | Gain | - |
TSPAN9 | - | - | - | - | 3 | Gain | - |
TTBK1 | p.R1163H | Missense | SNP | 0.102 | 2 | - | - |
TTC39C | p.H227Tfs*31 | Frame_Shift_Del | DEL | 0.459 | 2 | - | - |
TUBA1A | - | - | - | - | 3 | Gain | - |
TUBA1B | - | - | - | - | 3 | Gain | - |
TUBA1C | - | - | - | - | 3 | Gain | - |
TULP3 | - | - | - | - | 3 | Gain | - |
TWF1 | - | - | - | - | 3 | Gain | - |
TWIST1 | p.R74C | Missense | SNP | 0.500 | 2 | - | - |
TXNRD1 | - | - | - | - | 3 | Gain | - |
UBC | - | - | - | - | 3 | Gain | POC1B--UBC |
UBE2N | - | - | - | - | 3 | Gain | - |
UBE3B | - | - | - | - | 3 | Gain | - |
UFL1 | p.R660Gfs*17 | Frame_Shift_Del | DEL | 0.511 | 2 | - | - |
UHRF1BP1L | - | - | - | - | 3 | Gain | - |
ULK1 | - | - | - | - | 3 | Gain | - |
UNC119B | - | - | - | - | 3 | Gain | - |
UNG | - | - | - | - | 3 | Gain | - |
URGCP | p.V672I | Missense | SNP | 0.535 | 2 | - | - |
USF2 | p.A50V | Missense | SNP | 0.437 | 2 | - | - |
USP15 | - | - | - | - | 3 | Gain | - |
USP30 | - | - | - | - | 3 | Gain | - |
USP44 | - | - | - | - | 3 | Gain | - |
USP5 | - | - | - | - | 3 | Gain | - |
USP9X | p.L28Sfs*51 | Frame_Shift_Del | DEL | 0.487 | ND | ND | - |
UTP20 | - | - | - | - | 3 | Gain | - |
VAMP1 | - | - | - | - | 3 | Gain | - |
VANGL2 | p.V477I | Missense | SNP | 0.534 | 2 | - | - |
VDR | - | - | - | - | 3 | Gain | - |
VEZT | - | - | - | - | 3 | Gain | - |
VPS29 | - | - | - | - | 3 | Gain | - |
VPS33A | - | - | - | - | 3 | Gain | - |
VPS37B | - | - | - | - | 3 | Gain | - |
VSIG10 | - | - | - | - | 3 | Gain | - |
VWF | - | - | - | - | 3 | Gain | - |
WASHC3 | - | - | - | - | 3 | Gain | - |
WASHC4 | - | - | - | - | 3 | Gain | - |
WBP11 | - | - | - | - | 3 | Gain | - |
WDR66 | p.E1009K | Missense | SNP | 0.270 | 3 | Gain | - |
WDR74 | p.A4D | Missense | SNP | 0.491 | 2 | - | - |
WDR91 | p.Q401H | Missense | SNP | 0.429 | 2 | - | - |
WHSC1L1 | p.T419Pfs*8 | Frame_Shift_Del | DEL | 0.497 | ND | ND | - |
WIF1 | - | - | - | - | 3 | Gain | - |
WNK1 | - | - | - | - | 3 | Gain | - |
WNT1 | - | - | - | - | 3 | Gain | - |
WNT10B | - | - | - | - | 3 | Gain | - |
WNT5B | - | - | - | - | 3 | Gain | - |
WSB2 | - | - | - | - | 3 | Gain | - |
WSCD2 | - | - | - | - | 3 | Gain | - |
WWC2 | p.M206Nfs*9 | Frame_Shift_Ins | INS | 0.309 | 2 | - | - |
XPOT | - | - | - | - | 3 | Gain | - |
XXYLT1 | p.Q213E | Missense | SNP | 0.456 | 2 | - | - |
YAF2 | - | - | - | - | 3 | Gain | - |
YARS2 | - | - | - | - | 3 | Gain | - |
YBX3 | - | - | - | - | 3 | Gain | - |
YEATS4 | - | - | - | - | 3 | Gain | - |
ZBTB18 | p.R482C | Missense | SNP | 0.570 | 2 | - | - |
ZBTB39 | - | - | - | - | 3 | Gain | - |
ZC3H10 | - | - | - | - | 3 | Gain | - |
ZC3H13 | p.R1007Tfs*2 | Frame_Shift_Ins | INS | 0.294 | 2 | - | - |
ZC3H3 | p.A786Gfs*146 | Frame_Shift_Ins | INS | 0.298 | 2 | - | - |
ZCCHC8 | - | - | - | - | 3 | Gain | - |
ZCRB1 | - | - | - | - | 3 | Gain | - |
ZDHHC17 | - | - | - | - | 3 | Gain | - |
ZDHHC8 | p.T459Rfs*177 | Frame_Shift_Del | DEL | 0.085 | 2 | - | - |
ZFC3H1 | - | - | - | - | 3 | Gain | - |
ZFP36L1 | p.S294Afs*13 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
ZFR2 | p.P188Rfs*239 | Frame_Shift_Del | DEL | 0.446 | 2 | - | - |
ZNF10 | - | - | - | - | 3 | Gain | - |
ZNF124 | p.T339Lfs*31 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
ZNF140 | - | - | - | - | 3 | Gain | - |
ZNF26 | - | - | - | - | 3 | Gain | - |
ZNF268 | - | - | - | - | 3 | Gain | - |
ZNF276 | p.G450D | Missense | SNP | 0.419 | 2 | - | - |
ZNF292 | p.F1168Lfs*29 | Frame_Shift_Del | DEL | 0.482 | 2 | - | - |
ZNF384 | - | - | - | - | 3 | Gain | - |
ZNF385A | - | - | - | - | 3 | Gain | - |
ZNF514 | p.T399Pfs*21 | Frame_Shift_Del | DEL | 0.509 | 2 | - | - |
ZNF605 | - | - | - | - | 3 | Gain | - |
ZNF609 | p.K734Rfs*12 | Frame_Shift_Del | DEL | 0.388 | 2 | - | - |
ZNF641 | - | - | - | - | 3 | Gain | - |
ZNF664 | - | - | - | - | 3 | Gain | - |
ZNF726 | p.N439T | Missense | SNP | 0.567 | 2 | - | - |
ZNF74 | p.R631Efs*84 | Frame_Shift_Del | DEL | 0.474 | 2 | - | - |
ZNF740 | - | - | - | - | 3 | Gain | - |
ZNF835 | p.P109Q | Missense | SNP | 0.496 | 2 | - | - |
ZNF84 | - | - | - | - | 3 | Gain | - |
ZNF891 | - | - | - | - | 3 | Gain | - |