Variant Type | Calling Status |
---|---|
Mutations | Called |
Copy number | Called |
Fusions | Called |
Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
---|---|---|---|---|---|---|---|
AASS | - | - | - | - | 1 | Loss | - |
AATF | - | - | - | - | 3 | Gain | - |
ABCA12 | p.D1914E | Missense | SNP | 0.538 | 2 | - | - |
ABCA13 | - | - | - | - | 3 | Gain | - |
ABCA3 | - | - | - | - | 3 | Gain | - |
ABCA7 | p.L667I | Missense | SNP | 0.493 | 2 | - | - |
ABCB1 | - | - | - | - | 1 | Loss | - |
ABCB10 | - | - | - | - | 4 | Gain | - |
ABCB4 | - | - | - | - | 1 | Loss | - |
ABCB5 | - | - | - | - | 3 | Gain | - |
ABCB8 | - | - | - | - | 1 | Loss | - |
ABCF2 | - | - | - | - | 1 | Loss | - |
ABCG5 | - | - | - | - | 1 | Loss | - |
ABCG8 | - | - | - | - | 1 | Loss | - |
ABHD1 | - | - | - | - | 1 | Loss | - |
ABHD11 | - | - | - | - | 1 | Loss | - |
ABHD15 | - | - | - | - | 3 | Gain | - |
ABL1 | p.R535C | Missense | SNP | 0.476 | 2 | - | - |
ABL2 | - | - | - | - | 4 | Gain | - |
ABR | - | - | - | - | 1 | Loss | - |
AC000120.2 | - | - | - | - | 1 | Loss | - |
AC000120.3 | - | - | - | - | 1 | Loss | - |
AC002094.3 | - | - | - | - | 3 | Gain | - |
AC003688.1 | - | - | - | - | 1 | Loss | - |
AC004080.3 | - | - | - | - | 3 | Gain | - |
AC004593.3 | - | - | - | - | 3 | Gain | - |
AC004691.2 | - | - | - | - | 3 | Gain | - |
AC004754.1 | - | - | - | - | 3 | Gain | - |
AC004922.1 | - | - | - | - | 1 | Loss | - |
AC004923.1 | - | - | - | - | ND | ND | AC004923.1--ENPP7P4 |
AC005020.2 | - | - | - | - | 1 | Loss | - |
AC005154.5 | - | - | - | - | 3 | Gain | - |
AC005324.3 | - | - | - | - | 1 | Loss | - |
AC005324.4 | - | - | - | - | 1 | Loss | - |
AC005697.1 | - | - | - | - | 3 | Gain | - |
AC005726.1 | - | - | - | - | 3 | Gain | - |
AC006978.2 | - | - | - | - | 3 | Gain | - |
AC007846.2 | - | - | - | - | 1 | Loss | - |
AC010132.3 | - | - | - | - | 3 | Gain | - |
AC010487.3 | - | - | - | - | 3 | Gain | - |
AC011005.1 | - | - | - | - | 1 | Loss | - |
AC013717.1 | - | - | - | - | 1 | Loss | - |
AC019117.2 | - | - | - | - | 3 | Gain | - |
AC021097.2 | - | - | - | - | 1 | Loss | - |
AC021097.3 | - | - | - | - | 1 | Loss | - |
AC026954.2 | - | - | - | - | 1 | Loss | - |
AC027644.4 | - | - | - | - | 1 | Loss | - |
AC027796.3 | - | - | - | - | 1 | Loss | - |
AC055811.2 | - | - | - | - | 1 | Loss | - |
AC068533.4 | - | - | - | - | 1 | Loss | - |
AC073082.1 | - | - | - | - | 1 | Loss | - |
AC073111.3 | - | - | - | - | 1 | Loss | - |
AC073283.3 | - | - | - | - | 1 | Loss | - |
AC073508.2 | - | - | - | - | 3 | Gain | - |
AC084121.11 | - | - | - | - | 1 | Loss | - |
AC084121.12 | - | - | - | - | 1 | Loss | - |
AC084121.13 | - | - | - | - | 1 | Loss | - |
AC084121.5 | - | - | - | - | 1 | Loss | - |
AC084121.6 | - | - | - | - | 1 | Loss | - |
AC084121.7 | - | - | - | - | 1 | Loss | - |
AC084121.8 | - | - | - | - | 1 | Loss | - |
AC084121.9 | - | - | - | - | 1 | Loss | - |
AC092017.3 | - | - | - | - | 4 | Gain | - |
AC092647.5 | - | - | - | - | 3 | Gain | - |
AC093525.1 | - | - | - | - | 3 | Gain | AC093525.1--CAVIN1 |
AC093525.2 | - | - | - | - | 3 | Gain | - |
AC093668.1 | - | - | - | - | 1 | Loss | - |
AC093668.2 | - | - | - | - | 1 | Loss | - |
AC093668.3 | - | - | - | - | 1 | Loss | - |
AC098850.3 | - | - | - | - | 1 | Loss | - |
AC099811.2 | - | - | - | - | 3 | Gain | - |
AC104581.2 | - | - | - | - | 1 | Loss | - |
AC105052.1 | - | - | - | - | 1 | Loss | - |
AC105052.3 | - | - | - | - | 1 | Loss | - |
AC115220.1 | - | - | - | - | 1 | Loss | - |
AC120057.2 | - | - | - | - | 1 | Loss | - |
AC129492.3 | - | - | - | - | 1 | Loss | - |
AC131097.2 | - | - | - | - | 3 | Gain | - |
AC134669.1 | - | - | - | - | 3 | Gain | - |
AC134684.11 | - | - | - | - | 1 | Loss | - |
AC134684.8 | - | - | - | - | 1 | Loss | - |
AC134684.9 | - | - | - | - | 1 | Loss | - |
AC135178.2 | - | - | - | - | 1 | Loss | - |
AC187653.1 | - | - | - | - | 3 | Gain | - |
AC239799.1 | - | - | - | - | 3 | Gain | - |
AC243547.3 | - | - | - | - | 3 | Gain | - |
ACACA | - | - | - | - | 3 | Gain | - |
ACADVL | - | - | - | - | 1 | Loss | - |
ACAP1 | - | - | - | - | 1 | Loss | - |
ACBD3 | - | - | - | - | 4 | Gain | - |
ACBD6 | - | - | - | - | 4 | Gain | - |
ACHE | - | - | - | - | 1 | Loss | - |
ACKR1 | - | - | - | - | 4 | Gain | - |
ACLY | - | - | - | - | 3 | Gain | - |
ACP6 | - | - | - | - | 5 | Amp | - |
ACTA1 | - | - | - | - | 4 | Gain | - |
ACTB | - | - | - | - | 3 | Gain | - |
ACTL6B | - | - | - | - | 1 | Loss | - |
ACTN2 | - | - | - | - | 4 | Gain | - |
ACTR3 | p.R313H | Missense | SNP | 0.578 | 2 | - | - |
ACTR3B | - | - | - | - | 1 | Loss | - |
ACTR3C | - | - | - | - | 1 | Loss | - |
ACVR2A | p.D96Tfs*54 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
ADAM15 | - | - | - | - | 4 | Gain | - |
ADAM22 | - | - | - | - | 1 | Loss | - |
ADAMTS12 | p.G787C | Missense | SNP | 0.510 | 2 | - | - |
ADAMTS15 | p.R530C | Missense | SNP | 0.523 | 2 | - | - |
ADAMTS4 | p.V152M | Missense | SNP | 0.221 | 4 | Gain | - |
ADAMTS5 | p.S875L | Missense | SNP | 0.521 | 2 | - | - |
ADAMTSL4 | - | - | - | - | 4 | Gain | - |
ADAP1 | - | - | - | - | 3 | Gain | - |
ADAP2 | - | - | - | - | 3 | Gain | - |
ADAR | - | - | - | - | 4 | Gain | - |
ADCK2 | - | - | - | - | 1 | Loss | - |
ADCY1 | - | - | - | - | 3 | Gain | - |
ADCY10 | - | - | - | - | 4 | Gain | - |
ADCY3 | p.V209M | Missense | SNP | 1.000 | 1 | Loss | - |
ADCYAP1R1 | - | - | - | - | 3 | Gain | - |
ADD2 | p.R33C | Missense | SNP | 0.504 | 2 | - | - |
ADD3 | p.K701Rfs*8 | Frame_Shift_Del | DEL | 0.387 | 2 | - | - |
ADGRF3 | - | - | - | - | 1 | Loss | - |
ADGRF4 | p.G351S | Missense | SNP | 0.056 | 2 | - | - |
ADGRL4 | p.G495R | Missense | SNP | 0.500 | 2 | - | - |
ADIPOR1 | - | - | - | - | 4 | Gain | - |
ADNP | p.D618Mfs*14 | Frame_Shift_Del | DEL | 0.392 | 2 | - | - |
ADORA1 | - | - | - | - | 4 | Gain | - |
ADORA2B | - | - | - | - | 1 | Loss | - |
ADPRM | - | - | - | - | 1 | Loss | - |
ADSS | - | - | - | - | 4 | Gain | - |
AEBP1 | - | - | - | - | 3 | Gain | - |
AGAP3 | - | - | - | - | 1 | Loss | - |
AGBL3 | - | - | - | - | 1 | Loss | - |
AGBL5 | - | - | - | - | 1 | Loss | - |
AGFG2 | - | - | - | - | 1 | Loss | - |
AGK | - | - | - | - | 1 | Loss | - |
AGMO | - | - | - | - | 3 | Gain | - |
AGR2 | - | - | - | - | 3 | Gain | - |
AGR3 | - | - | - | - | 3 | Gain | - |
AGRN | p.H798Mfs*65 | Frame_Shift_Del | DEL | 0.439 | 2 | - | - |
AGT | - | - | - | - | 4 | Gain | - |
AHCTF1 | - | - | - | - | 4 | Gain | - |
AHCYL2 | - | - | - | - | 1 | Loss | - |
AHR | - | - | - | - | 3 | Gain | - |
AIDA | - | - | - | - | 4 | Gain | - |
AIM2 | p.T343Hfs*14 | Frame_Shift_Del | DEL | 0.231 | 4 | Gain | - |
AIMP2 | - | - | - | - | 3 | Gain | - |
AIPL1 | - | - | - | - | 1 | Loss | - |
AKAP10 | - | - | - | - | 1 | Loss | - |
AKAP11 | - | - | - | - | 1 | Loss | - |
AKAP9 | - | - | - | - | 1 | Loss | - |
AKR1B1 | - | - | - | - | 1 | Loss | - |
AKR1B10 | - | - | - | - | 1 | Loss | - |
AKR1B15 | - | - | - | - | 1 | Loss | - |
AKR1D1 | - | - | - | - | 1 | Loss | - |
AKR1E2 | p.R301* | Nonsense | SNP | 0.495 | 2 | - | - |
AKT3 | - | - | - | - | 4 | Gain | - |
AL031708.1 | - | - | - | - | 3 | Gain | - |
AL117348.2 | - | - | - | - | 4 | Gain | - |
AL136454.1 | - | - | - | - | 4 | Gain | - |
AL139011.2 | - | - | - | - | 4 | Gain | - |
AL139142.2 | - | - | - | - | 4 | Gain | - |
AL358472.6 | - | - | - | - | 4 | Gain | - |
AL358472.7 | - | - | - | - | 4 | Gain | - |
AL512506.3 | - | - | - | - | 1 | Loss | - |
AL512785.2 | - | - | - | - | 4 | Gain | - |
AL590132.1 | - | - | - | - | 4 | Gain | - |
AL591806.3 | - | - | - | - | 4 | Gain | - |
AL691442.1 | - | - | - | - | 4 | Gain | - |
AL713999.1 | - | - | - | - | 4 | Gain | - |
ALDH1A1 | p.K36E | Missense | SNP | 0.446 | 2 | - | - |
ALDH1A2 | p.V328M | Missense | SNP | 0.457 | 2 | - | - |
ALDH1L1 | p.E439Gfs*12 | Frame_Shift_Ins | INS | 0.303 | 2 | - | - |
ALDH3A1 | - | - | - | - | 1 | Loss | - |
ALDH3A2 | - | - | - | - | 1 | Loss | - |
ALDH9A1 | - | - | - | - | 4 | Gain | - |
ALDOC | - | - | - | - | 3 | Gain | - |
ALK | - | - | - | - | 1 | Loss | - |
ALKBH4 | - | - | - | - | 1 | Loss | - |
ALKBH5 | - | - | - | - | 1 | Loss | - |
ALOX12 | - | - | - | - | 1 | Loss | - |
ALOX12B | - | - | - | - | 1 | Loss | - |
ALOX15 | - | - | - | - | 1 | Loss | - |
ALOX15B | - | - | - | - | 1 | Loss | - |
ALOXE3 | - | - | - | - | 1 | Loss | - |
ALX4 | p.R215W | Missense | SNP | 0.512 | 2 | - | - |
AMER3 | p.S727I | Missense | SNP | 0.531 | 2 | - | - |
AMHR2 | p.P268Sfs*30 | Frame_Shift_Ins | INS | 0.306 | 2 | - | - |
AMPH | - | - | - | - | 3 | Gain | - |
AMZ1 | - | - | - | - | 3 | Gain | - |
ANAPC4 | p.N148Kfs*3 | Frame_Shift_Ins | INS | 0.395 | 2 | - | - |
ANGEL2 | - | - | - | - | 4 | Gain | - |
ANGPTL1 | - | - | - | - | 4 | Gain | - |
ANKEF1 | p.Y459C | Missense | SNP | 0.517 | 2 | - | - |
ANKFN1 | p.H87Tfs*2 | Frame_Shift_Ins | INS | 0.344 | 2 | - | - |
ANKFY1 | - | - | - | - | 1 | Loss | - |
ANKHD1 | - | - | - | - | 3 | Gain | - |
ANKHD1-EIF4EBP3 | - | - | - | - | 3 | Gain | - |
ANKIB1 | - | - | - | - | 1 | Loss | - |
ANKLE1 | p.A37Rfs*4 | Frame_Shift_Ins | INS | 0.317 | 2 | - | - |
ANKMY1 | p.D565Afs*22 | Frame_Shift_Ins | INS | 0.139 | 2 | - | - |
ANKMY2 | - | - | - | - | 3 | Gain | - |
ANKRD13B | - | - | - | - | 3 | Gain | - |
ANKRD33 | p.C414* | Nonsense | SNP | 0.463 | 2 | - | - |
ANKRD34A | - | - | - | - | 3 | Gain | - |
ANKRD35 | - | - | - | - | 3 | Gain | - |
ANKRD45 | - | - | - | - | 4 | Gain | - |
ANKRD61 | - | - | - | - | 3 | Gain | - |
ANKRD7 | - | - | - | - | 1 | Loss | - |
ANLN | - | - | - | - | 3 | Gain | - |
ANO1 | p.T847M | Missense | SNP | 0.487 | 2 | - | - |
ANP32E | - | - | - | - | 4 | Gain | - |
ANXA9 | - | - | - | - | 4 | Gain | - |
AOAH | - | - | - | - | 3 | Gain | - |
AOC1 | - | - | - | - | 1 | Loss | - |
AP1S1 | - | - | - | - | 1 | Loss | - |
AP2B1 | - | - | - | - | 3 | Gain | - |
AP4M1 | - | - | - | - | 1 | Loss | - |
AP5Z1 | - | - | - | - | 3 | Gain | - |
APBB2 | p.A436T | Missense | SNP | 0.474 | 2 | - | - |
APCS | - | - | - | - | 4 | Gain | - |
APH1A | - | - | - | - | 4 | Gain | - |
APOA2 | - | - | - | - | 4 | Gain | - |
APOBEC4 | - | - | - | - | 4 | Gain | - |
APPL1 | p.K614Rfs*12 | Frame_Shift_Del | DEL | 0.514 | 2 | - | - |
AQP1 | - | - | - | - | 3 | Gain | - |
AQP10 | - | - | - | - | 4 | Gain | - |
ARAP1 | p.R166Pfs*9 | Frame_Shift_Ins | INS | 0.317 | 2 | - | - |
ARAP3 | p.R1335H | Missense | SNP | 0.472 | 2 | - | - |
ARF1 | - | - | - | - | 4 | Gain | - |
ARF5 | - | - | - | - | 1 | Loss | - |
ARHGAP23 | - | - | - | - | 3 | Gain | - |
ARHGAP30 | - | - | - | - | 4 | Gain | - |
ARHGAP39 | p.R686C | Missense | SNP | 0.499 | 2 | - | - |
ARHGAP44 | - | - | - | - | 1 | Loss | - |
ARHGDIG | - | - | - | - | 3 | Gain | - |
ARHGEF11 | - | - | - | - | 4 | Gain | - |
ARHGEF15 | - | - | - | - | 1 | Loss | - |
ARHGEF2 | - | - | - | - | 4 | Gain | - |
ARHGEF33 | - | - | - | - | 1 | Loss | - |
ARHGEF35 | - | - | - | - | 1 | Loss | - |
ARHGEF5 | - | - | - | - | 1 | Loss | - |
ARID4B | - | - | - | - | 4 | Gain | - |
ARL11 | - | - | - | - | 1 | Loss | - |
ARL4A | - | - | - | - | 3 | Gain | - |
ARL5C | - | - | - | - | 3 | Gain | - |
ARL8A | - | - | - | - | 4 | Gain | - |
ARMC10 | - | - | - | - | 1 | Loss | - |
ARNT | - | - | - | - | 4 | Gain | - |
ARNT2 | p.M27Wfs*7 | Frame_Shift_Del | DEL | 0.538 | 2 | - | - |
ARPC1A | - | - | - | - | 1 | Loss | - |
ARPC1B | - | - | - | - | 1 | Loss | - |
ARPC5 | - | - | - | - | 4 | Gain | - |
ARRB2 | - | - | - | - | 1 | Loss | - |
ARRDC5 | p.R4I | Missense | SNP | 0.430 | 2 | - | - |
ART3 | p.E300G | Missense | SNP | 0.407 | 2 | - | - |
ARV1 | - | - | - | - | 4 | Gain | - |
ASAH2 | p.S50Qfs*40 | Frame_Shift_Del | DEL | 0.344 | 2 | - | - |
ASB1 | p.P320H | Missense | SNP | 0.458 | 2 | - | - |
ASB10 | - | - | - | - | 1 | Loss | - |
ASB15 | - | - | - | - | 1 | Loss | - |
ASB4 | - | - | - | - | 1 | Loss | - |
ASCL5 | - | - | - | - | 4 | Gain | - |
ASGR1 | - | - | - | - | 1 | Loss | - |
ASGR2 | - | - | - | - | 1 | Loss | - |
ASH1L | - | - | - | - | 4 | Gain | - |
ASIC2 | - | - | - | - | 3 | Gain | - |
ASIC3 | - | - | - | - | 1 | Loss | - |
ASL | - | - | - | - | 1 | Loss | - |
ASNS | - | - | - | - | 1 | Loss | - |
ASPA | - | - | - | - | 1 | Loss | - |
ASPM | - | - | - | - | 4 | Gain | - |
ASTN1 | - | - | - | - | 4 | Gain | - |
ASXL2 | - | - | - | - | 1 | Loss | - |
ASZ1 | - | - | - | - | 1 | Loss | - |
ATAD5 | - | - | - | - | 3 | Gain | - |
ATF3 | - | - | - | - | 4 | Gain | - |
ATF6 | - | - | - | - | 4 | Gain | - |
ATG9B | - | - | - | - | 1 | Loss | - |
ATL2 | - | - | - | - | 1 | Loss | - |
ATM | p.L1598Sfs*3 | Frame_Shift_Del | DEL | 0.519 | 2 | - | - |
ATP1A2 | - | - | - | - | 4 | Gain | - |
ATP1A4 | - | - | - | - | 4 | Gain | - |
ATP1B1 | - | - | - | - | 4 | Gain | - |
ATP1B2 | - | - | - | - | 1 | Loss | - |
ATP2A3 | - | - | - | - | 1 | Loss | - |
ATP2B4 | - | - | - | - | 4 | Gain | - |
ATP5MF | - | - | - | - | 1 | Loss | - |
ATP5MF-PTCD1 | - | - | - | - | 1 | Loss | - |
ATP6V0A4 | - | - | - | - | 1 | Loss | - |
ATP6V0C | - | - | - | - | 3 | Gain | ATP6V0C--CAVIN1 |
ATP6V0E2 | - | - | - | - | 1 | Loss | - |
ATP6V1E2 | - | - | - | - | 1 | Loss | - |
ATP6V1F | - | - | - | - | 1 | Loss | - |
ATP6V1FNB | - | - | - | - | 1 | Loss | - |
ATP6V1G3 | - | - | - | - | 4 | Gain | - |
ATP8A2 | p.R1130C | Missense | SNP | 0.451 | 2 | - | - |
ATP8B2 | - | - | - | - | 4 | Gain | - |
ATPAF2 | - | - | - | - | 1 | Loss | - |
ATRAID | - | - | - | - | 1 | Loss | - |
ATXN7L1 | - | - | - | - | 1 | Loss | - |
AURKB | - | - | - | - | 1 | Loss | - |
AUTS2 | - | - | - | - | 1 | Loss | - |
AVL9 | p.K203Rfs*9 | Frame_Shift_Del | DEL | 0.444 | 3 | Gain | - |
AVPR1B | - | - | - | - | 4 | Gain | - |
AXDND1 | - | - | - | - | 4 | Gain | - |
AXIN1 | - | - | - | - | 3 | Gain | - |
AZGP1 | - | - | - | - | 1 | Loss | - |
B3GALNT2 | - | - | - | - | 4 | Gain | - |
B3GALT2 | - | - | - | - | 4 | Gain | - |
B3GALT4 | p.P318L | Missense | SNP | 0.437 | 2 | - | - |
B4GALT3 | - | - | - | - | 4 | Gain | - |
B9D1 | - | - | - | - | 1 | Loss | - |
BABAM2 | - | - | - | - | 1 | Loss | - |
BAG4 | p.H312Y | Missense | SNP | 0.061 | 2 | - | - |
BAG6 | p.P115Lfs*53 | Frame_Shift_Del | DEL | 0.405 | 2 | - | - |
BAHD1 | p.S741Lfs*58 | Frame_Shift_Del | DEL | 0.480 | 2 | - | - |
BAIAP2L1 | - | - | - | - | 1 | Loss | - |
BAIAP3 | - | - | - | - | 3 | Gain | - |
BARD1 | p.A136V | Missense | SNP | 0.429 | 2 | - | - |
BATF3 | - | - | - | - | 4 | Gain | - |
BAZ1B | - | - | - | - | 1 | Loss | - |
BBS9 | - | - | - | - | 3 | Gain | - |
BCAN | - | - | - | - | 4 | Gain | - |
BCAP29 | - | - | - | - | 1 | Loss | - |
BCAS3 | p.G891Efs*76 | Frame_Shift_Del | DEL | 0.278 | 2 | - | - |
BCKDHA | p.R429H | Missense | SNP | 0.509 | 2 | - | - |
BCL6 | p.S128G | Missense | SNP | 0.427 | 2 | - | - |
BCL6B | - | - | - | - | 1 | Loss | - |
BCL7B | - | - | - | - | 1 | Loss | - |
BCL9 | p.P1073Q | Missense | SNP | 0.190 | 5 | Amp | - |
BCR | p.L522V | Missense | SNP | 0.432 | 2 | - | - |
BECN2 | - | - | - | - | 4 | Gain | - |
BET1 | - | - | - | - | 1 | Loss | - |
BGLAP | - | - | - | - | 4 | Gain | - |
BHLHA15 | - | - | - | - | 1 | Loss | - |
BHLHA9 | - | - | - | - | 1 | Loss | - |
BIRC6 | - | - | - | - | 1 | Loss | - |
BIRC8 | - | - | - | - | 3 | Gain | - |
BLMH | - | - | - | - | 3 | Gain | - |
BLVRA | - | - | - | - | 3 | Gain | - |
BLZF1 | - | - | - | - | 4 | Gain | - |
BMP7 | p.T390M | Missense | SNP | 0.390 | 2 | - | - |
BMPER | - | - | - | - | 3 | Gain | - |
BMT2 | - | - | - | - | 1 | Loss | - |
BNIP3 | p.L198I | Missense | SNP | 0.503 | 2 | - | - |
BNIPL | - | - | - | - | 4 | Gain | - |
BOLA1 | - | - | - | - | 4 | Gain | - |
BORCS6 | - | - | - | - | 1 | Loss | - |
BPGM | - | - | - | - | 1 | Loss | - |
BPNT1 | - | - | - | - | 4 | Gain | - |
BRAF | - | - | - | - | 1 | Loss | - |
BRAT1 | - | - | - | - | 3 | Gain | - |
BRI3 | - | - | - | - | 1 | Loss | - |
BRICD5 | - | - | - | - | 3 | Gain | - |
BRINP2 | - | - | - | - | 4 | Gain | - |
BRINP3 | - | - | - | - | 4 | Gain | - |
BROX | - | - | - | - | 4 | Gain | - |
BRPF3 | p.A278T | Missense | SNP | 0.187 | 2 | - | - |
BSND | p.V162M | Missense | SNP | 0.459 | 2 | - | - |
BTG2 | - | - | - | - | 4 | Gain | - |
BTN3A3 | p.I221T | Missense | SNP | 0.439 | 2 | - | - |
BUD23 | - | - | - | - | 1 | Loss | - |
BUD31 | - | - | - | - | 1 | Loss | - |
BZW2 | - | - | - | - | 3 | Gain | - |
C10orf120 | p.K254Nfs*3 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
C10orf71 | p.R1236H | Missense | SNP | 0.430 | 2 | - | - |
C11orf54 | p.V77Ffs*4 | Frame_Shift_Del | DEL | 0.477 | 2 | - | - |
C11orf57 | p.K161Sfs*20 | Frame_Shift_Del | DEL | 0.259 | ND | ND | - |
C12orf40 | p.G173E | Missense | SNP | 0.366 | 2 | - | - |
C16orf91 | - | - | - | - | 3 | Gain | - |
C17orf100 | - | - | - | - | 1 | Loss | - |
C17orf107 | - | - | - | - | 1 | Loss | - |
C17orf113 | - | - | - | - | 3 | Gain | - |
C17orf49 | - | - | - | - | 1 | Loss | - |
C17orf50 | - | - | - | - | 3 | Gain | - |
C17orf51 | - | - | - | - | 1 | Loss | - |
C17orf62 | p.L45M | Missense | SNP | 0.144 | ND | ND | - |
C17orf75 | - | - | - | - | 3 | Gain | - |
C17orf78 | - | - | - | - | 3 | Gain | - |
C17orf97 | - | - | - | - | 1 | Loss | - |
C17orf98 | - | - | - | - | 3 | Gain | - |
C1GALT1 | - | - | - | - | 3 | Gain | - |
C1GALT1C1L | - | - | - | - | 1 | Loss | - |
C1orf100 | - | - | - | - | 4 | Gain | - |
C1orf105 | - | - | - | - | 4 | Gain | - |
C1orf112 | - | - | - | - | 4 | Gain | - |
C1orf115 | - | - | - | - | 4 | Gain | - |
C1orf116 | - | - | - | - | 4 | Gain | - |
C1orf131 | - | - | - | - | 4 | Gain | - |
C1orf189 | - | - | - | - | 4 | Gain | - |
C1orf198 | - | - | - | - | 4 | Gain | - |
C1orf21 | - | - | - | - | 4 | Gain | - |
C1orf226 | - | - | - | - | 4 | Gain | - |
C1orf35 | - | - | - | - | 4 | Gain | - |
C1orf43 | - | - | - | - | 4 | Gain | - |
C1orf53 | - | - | - | - | 4 | Gain | - |
C1orf54 | - | - | - | - | 4 | Gain | - |
C1orf56 | - | - | - | - | 4 | Gain | - |
C1orf61 | - | - | - | - | 4 | Gain | - |
C1orf68 | - | - | - | - | 4 | Gain | - |
C1orf74 | - | - | - | - | 4 | Gain | - |
C1QBP | - | - | - | - | 1 | Loss | - |
C1QTNF8 | - | - | - | - | 3 | Gain | - |
C22orf31 | p.A47V | Missense | SNP | 0.435 | 2 | - | - |
C2CD4D | - | - | - | - | 4 | Gain | - |
C2orf16 | - | - | - | - | 1 | Loss | - |
C2orf49 | p.T92A | Missense | SNP | 0.420 | 2 | - | - |
C2orf70 | - | - | - | - | 1 | Loss | - |
C2orf91 | - | - | - | - | 1 | Loss | - |
C4BPA | - | - | - | - | 4 | Gain | - |
C4BPB | - | - | - | - | 4 | Gain | - |
C5orf45 | p.E76K | Missense | SNP | 0.468 | ND | ND | - |
C7orf25 | - | - | - | - | 3 | Gain | - |
C7orf26 | - | - | - | - | 3 | Gain | - |
C7orf31 | - | - | - | - | 3 | Gain | - |
C7orf33 | - | - | - | - | 1 | Loss | - |
C7orf43 | - | - | - | - | 1 | Loss | - |
C7orf50 | - | - | - | - | 3 | Gain | - |
C7orf55-LUC7L2 | - | - | - | - | 1 | Loss | - |
C7orf57 | - | - | - | - | 3 | Gain | - |
C7orf61 | - | - | - | - | 1 | Loss | - |
C7orf77 | - | - | - | - | 1 | Loss | - |
C8orf76 | p.C212R | Missense | SNP | 0.507 | 2 | - | - |
CA14 | - | - | - | - | 4 | Gain | - |
CA7 | p.L150Wfs*10 | Frame_Shift_Del | DEL | 0.355 | 2 | - | - |
CAB39L | - | - | - | - | 1 | Loss | - |
CACNA1B | p.R906H | Missense | SNP | 0.541 | 2 | - | - |
CACNA1E | - | - | - | - | 4 | Gain | - |
CACNA1H | - | - | - | - | 3 | Gain | - |
CACNA1S | - | - | - | - | 4 | Gain | - |
CACNA2D1 | - | - | - | - | 1 | Loss | - |
CACNB1 | - | - | - | - | 3 | Gain | - |
CACNG1 | p.R60H | Missense | SNP | 0.536 | 2 | - | - |
CACYBP | - | - | - | - | 4 | Gain | - |
CAD | - | - | - | - | 1 | Loss | - |
CADM3 | - | - | - | - | 4 | Gain | - |
CADPS2 | - | - | - | - | 1 | Loss | - |
CALCR | - | - | - | - | 1 | Loss | - |
CALD1 | - | - | - | - | 1 | Loss | - |
CALM2 | - | - | - | - | 1 | Loss | - |
CALN1 | - | - | - | - | 1 | Loss | - |
CALU | - | - | - | - | 1 | Loss | - |
CAMK1G | - | - | - | - | 4 | Gain | - |
CAMK2B | - | - | - | - | 3 | Gain | - |
CAMKK1 | - | - | - | - | 1 | Loss | - |
CAMKMT | - | - | - | - | 1 | Loss | - |
CAMSAP2 | p.M1437* | Frame_Shift_Del | DEL | 0.290 | 4 | Gain | - |
CAMTA1 | p.A1117V | Missense | SNP | 0.483 | 2 | - | - |
CAMTA2 | p.R402C | Missense | SNP | 1.000 | 1 | Loss | - |
CAPN13 | - | - | - | - | 1 | Loss | - |
CAPN14 | - | - | - | - | 1 | Loss | - |
CAPN15 | - | - | - | - | 3 | Gain | - |
CAPN2 | p.R337H | Missense | SNP | 0.819 | 4 | Gain | - |
CAPN8 | - | - | - | - | 4 | Gain | - |
CAPN9 | - | - | - | - | 4 | Gain | - |
CAPZA2 | - | - | - | - | 1 | Loss | - |
CARD11 | p.G595R | Missense | SNP | 0.302 | 3 | Gain | - |
CARD9 | p.R475Q | Missense | SNP | 0.500 | 2 | - | - |
CASC3 | - | - | - | - | 3 | Gain | - |
CASD1 | - | - | - | - | 1 | Loss | - |
CASKIN1 | - | - | - | - | 3 | Gain | - |
CASP2 | - | - | - | - | 1 | Loss | - |
CASQ1 | - | - | - | - | 4 | Gain | - |
CASTOR2 | - | - | - | - | 1 | Loss | - |
CASTOR3 | - | - | - | - | 1 | Loss | - |
CATSPERE | - | - | - | - | 4 | Gain | - |
CAV1 | - | - | - | - | 1 | Loss | - |
CAV2 | - | - | - | - | 1 | Loss | - |
CAVIN1 | - | - | - | - | 3 | Gain | AC093525.1--CAVIN1 ATP6V0C--CAVIN1 |
CBLL1 | - | - | - | - | 1 | Loss | - |
CBS | - | - | - | - | 1 | Loss | - |
CBSL | - | - | - | - | 1 | Loss | - |
CBX3 | - | - | - | - | 3 | Gain | - |
CCDC121 | - | - | - | - | 1 | Loss | - |
CCDC122 | - | - | - | - | 1 | Loss | - |
CCDC126 | - | - | - | - | 3 | Gain | - |
CCDC136 | - | - | - | - | 1 | Loss | - |
CCDC144A | - | - | - | - | 1 | Loss | - |
CCDC144NL | - | - | - | - | 1 | Loss | - |
CCDC146 | - | - | - | - | 1 | Loss | - |
CCDC154 | - | - | - | - | 3 | Gain | - |
CCDC160 | p.F17Lfs*7 | Frame_Shift_Del | DEL | 0.857 | ND | ND | - |
CCDC174 | p.K303Rfs*2 | Frame_Shift_Del | DEL | 0.423 | 2 | - | - |
CCDC181 | p.K422Sfs*6 | Frame_Shift_Del | DEL | 0.794 | 4 | Gain | - |
CCDC185 | p.E559D | Missense | SNP | 0.233 | 4 | Gain | - |
CCDC190 | - | - | - | - | 4 | Gain | - |
CCDC42 | - | - | - | - | 1 | Loss | - |
CCDC67 | p.R208H | Missense | SNP | 0.500 | ND | ND | - |
CCDC71L | - | - | - | - | 1 | Loss | - |
CCDC78 | - | - | - | - | 3 | Gain | - |
CCL1 | - | - | - | - | 3 | Gain | - |
CCL11 | - | - | - | - | 3 | Gain | - |
CCL13 | - | - | - | - | 3 | Gain | - |
CCL14 | - | - | - | - | 3 | Gain | - |
CCL15 | - | - | - | - | 3 | Gain | - |
CCL15-CCL14 | - | - | - | - | 3 | Gain | - |
CCL16 | - | - | - | - | 3 | Gain | - |
CCL18 | - | - | - | - | 3 | Gain | - |
CCL2 | - | - | - | - | 3 | Gain | - |
CCL23 | - | - | - | - | 3 | Gain | - |
CCL24 | - | - | - | - | 1 | Loss | - |
CCL26 | - | - | - | - | 1 | Loss | - |
CCL3 | - | - | - | - | 3 | Gain | - |
CCL3L1 | - | - | - | - | 3 | Gain | - |
CCL4 | - | - | - | - | 3 | Gain | - |
CCL4L2 | - | - | - | - | 3 | Gain | - |
CCL5 | - | - | - | - | 3 | Gain | - |
CCL7 | - | - | - | - | 3 | Gain | - |
CCL8 | - | - | - | - | 3 | Gain | - |
CCM2 | - | - | - | - | 3 | Gain | - |
CCNF | - | - | - | - | 3 | Gain | - |
CCR7 | - | - | - | - | 3 | Gain | - |
CCSAP | - | - | - | - | 4 | Gain | - |
CCT3 | - | - | - | - | 4 | Gain | - |
CCT6A | - | - | - | - | 3 | Gain | - |
CCT6B | - | - | - | - | 3 | Gain | - |
CCZ1 | - | - | - | - | 3 | Gain | - |
CCZ1B | - | - | - | - | 3 | Gain | - |
CD160 | - | - | - | - | 3 | Gain | - |
CD1A | - | - | - | - | 4 | Gain | - |
CD1B | - | - | - | - | 4 | Gain | - |
CD1C | - | - | - | - | 4 | Gain | - |
CD1D | - | - | - | - | 4 | Gain | - |
CD1E | p.X302_splice | Splice_Site | SNP | 0.212 | 4 | Gain | - |
CD244 | - | - | - | - | 4 | Gain | - |
CD247 | - | - | - | - | 4 | Gain | - |
CD34 | - | - | - | - | 4 | Gain | - |
CD36 | - | - | - | - | 1 | Loss | - |
CD46 | - | - | - | - | 4 | Gain | - |
CD48 | - | - | - | - | 4 | Gain | - |
CD55 | - | - | - | - | 4 | Gain | - |
CD5L | - | - | - | - | 4 | Gain | - |
CD68 | - | - | - | - | 1 | Loss | - |
CD81 | p.A70T | Missense | SNP | 0.455 | 2 | - | - |
CD84 | - | - | - | - | 4 | Gain | - |
CD93 | p.P514L | Missense | SNP | 0.361 | 2 | - | - |
CDADC1 | - | - | - | - | 1 | Loss | - |
CDC14C | - | - | - | - | 3 | Gain | - |
CDC25C | p.Q228Afs*13 | Frame_Shift_Ins | INS | 0.299 | 2 | - | - |
CDC42BPA | - | - | - | - | 4 | Gain | - |
CDC42EP3 | - | - | - | - | 1 | Loss | - |
CDC42SE1 | - | - | - | - | 4 | Gain | - |
CDC6 | - | - | - | - | 3 | Gain | - |
CDC73 | - | - | - | - | 4 | Gain | - |
CDCA7L | - | - | - | - | 3 | Gain | - |
CDH1 | p.R224H | Missense | SNP | 0.466 | 2 | - | - |
CDH13 | p.F261Y | Missense | SNP | 0.569 | 2 | - | - |
CDHR3 | - | - | - | - | 1 | Loss | - |
CDK11A | p.N37Ifs*17 | Frame_Shift_Del | DEL | 0.609 | 2 | - | - |
CDK12 | - | - | - | - | 3 | Gain | - |
CDK13 | - | - | - | - | 3 | Gain | - |
CDK14 | - | - | - | - | 1 | Loss | - |
CDK18 | - | - | - | - | 4 | Gain | - |
CDK5 | - | - | - | - | 1 | Loss | - |
CDK5R1 | - | - | - | - | 3 | Gain | - |
CDK6 | - | - | - | - | 1 | Loss | - |
CDK9 | p.I210Hfs*2 | Frame_Shift_Ins | INS | 0.332 | 2 | - | - |
CDKL4 | - | - | - | - | 1 | Loss | - |
CDRT1 | - | - | - | - | 1 | Loss | - |
CDRT15 | - | - | - | - | 1 | Loss | - |
CDRT15L2 | - | - | - | - | 1 | Loss | - |
CDRT4 | - | - | - | - | 1 | Loss | - |
CDX4 | p.G25C | Missense | SNP | 0.065 | ND | ND | - |
CEBPZ | - | - | - | - | 1 | Loss | - |
CELA3A | p.W113* | Nonsense | SNP | 0.503 | 2 | - | - |
CELF3 | - | - | - | - | 4 | Gain | - |
CELSR2 | p.A1087T | Missense | SNP | 0.494 | 2 | - | - |
CELSR3 | p.W2495C | Missense | SNP | 0.458 | 2 | - | - |
CENPA | - | - | - | - | 1 | Loss | - |
CENPF | - | - | - | - | 4 | Gain | - |
CENPL | - | - | - | - | 4 | Gain | - |
CENPO | - | - | - | - | 1 | Loss | - |
CENPV | - | - | - | - | 1 | Loss | - |
CEP131 | p.R1013W | Missense | SNP | 0.462 | 2 | - | - |
CEP170 | - | - | - | - | 4 | Gain | - |
CEP290 | p.N212Tfs*14 | Frame_Shift_Del | DEL | 0.418 | 2 | - | - |
CEP350 | - | - | - | - | 4 | Gain | - |
CEP41 | - | - | - | - | 1 | Loss | - |
CEP85 | p.R237Q | Missense | SNP | 0.173 | 2 | - | - |
CERS2 | - | - | - | - | 4 | Gain | - |
CFAP126 | - | - | - | - | 4 | Gain | - |
CFAP45 | - | - | - | - | 4 | Gain | - |
CFAP52 | - | - | - | - | 1 | Loss | - |
CFAP69 | - | - | - | - | 1 | Loss | - |
CFH | - | - | - | - | 4 | Gain | - |
CFHR1 | - | - | - | - | 4 | Gain | - |
CFHR2 | - | - | - | - | 4 | Gain | - |
CFHR3 | - | - | - | - | 4 | Gain | - |
CFHR4 | - | - | - | - | 4 | Gain | - |
CFHR5 | - | - | - | - | 4 | Gain | - |
CFTR | - | - | - | - | 1 | Loss | - |
CGN | p.Q891H | Missense | SNP | 0.193 | 4 | Gain | - |
CGREF1 | - | - | - | - | 1 | Loss | - |
CHCHD2 | - | - | - | - | 3 | Gain | - |
CHCHD3 | - | - | - | - | 1 | Loss | - |
CHD1L | - | - | - | - | 5 | Amp | - |
CHD3 | - | - | - | - | 1 | Loss | - |
CHD6 | p.I979Rfs*16 | Frame_Shift_Del | DEL | 0.415 | 2 | - | - |
CHEK1 | p.G77C | Missense | SNP | 0.298 | 2 | - | - |
CHI3L1 | - | - | - | - | 4 | Gain | - |
CHIT1 | - | - | - | - | 4 | Gain | - |
CHML | - | - | - | - | 4 | Gain | - |
CHN2 | - | - | - | - | 3 | Gain | - |
CHPF2 | - | - | - | - | 1 | Loss | - |
CHRM2 | - | - | - | - | 1 | Loss | - |
CHRM3 | - | - | - | - | 4 | Gain | - |
CHRM4 | p.N60I | Missense | SNP | 0.231 | 2 | - | - |
CHRNA9 | p.A210T | Missense | SNP | 0.494 | 2 | - | - |
CHRNB1 | - | - | - | - | 1 | Loss | - |
CHRNB2 | - | - | - | - | 4 | Gain | - |
CHRNE | - | - | - | - | 1 | Loss | - |
CHST12 | - | - | - | - | 3 | Gain | - |
CHTF18 | - | - | - | - | 3 | Gain | - |
CHTOP | - | - | - | - | 4 | Gain | - |
CIAO3 | - | - | - | - | 3 | Gain | - |
CIART | - | - | - | - | 4 | Gain | - |
CIB4 | - | - | - | - | 1 | Loss | - |
CISD3 | - | - | - | - | 3 | Gain | - |
CIT | p.R1914H | Missense | SNP | 0.469 | 2 | - | - |
CKS1B | - | - | - | - | 4 | Gain | - |
CLCA2 | p.R867Q | Missense | SNP | 0.554 | 2 | - | - |
CLCN1 | - | - | - | - | 1 | Loss | - |
CLCN4 | p.R729W | Missense | SNP | 1.000 | ND | ND | - |
CLCN7 | - | - | - | - | 3 | Gain | - |
CLDN12 | - | - | - | - | 1 | Loss | - |
CLDN15 | - | - | - | - | 1 | Loss | - |
CLDN3 | - | - | - | - | 1 | Loss | - |
CLDN4 | - | - | - | - | 1 | Loss | - |
CLDN7 | - | - | - | - | 1 | Loss | - |
CLEC10A | - | - | - | - | 1 | Loss | - |
CLEC2L | - | - | - | - | 1 | Loss | - |
CLEC5A | - | - | - | - | 1 | Loss | - |
CLIP2 | - | - | - | - | 1 | Loss | - |
CLIP4 | - | - | - | - | 1 | Loss | - |
CLK2 | - | - | - | - | 4 | Gain | - |
CLUH | - | - | - | - | 1 | Loss | - |
CMKLR1 | p.A100T | Missense | SNP | 0.458 | 2 | - | - |
CNBD1 | p.E422Kfs*25 | Frame_Shift_Del | DEL | 0.429 | 2 | - | - |
CNGB3 | p.R140C | Missense | SNP | 0.490 | 2 | - | - |
CNIH3 | - | - | - | - | 4 | Gain | - |
CNIH4 | - | - | - | - | 4 | Gain | - |
CNOT3 | p.X235_splice | Splice_Site | SNP | 0.537 | 2 | - | - |
CNOT4 | - | - | - | - | 1 | Loss | - |
CNP | - | - | - | - | 3 | Gain | - |
CNPY1 | - | - | - | - | 1 | Loss | - |
CNPY4 | - | - | - | - | 1 | Loss | - |
CNST | - | - | - | - | 4 | Gain | - |
CNTFR | p.C46Y | Missense | SNP | 0.480 | 2 | - | - |
CNTN2 | - | - | - | - | 4 | Gain | - |
CNTNAP2 | - | - | - | - | 1 | Loss | - |
CNTNAP4 | p.D206Rfs*13 | Frame_Shift_Ins | INS | 0.371 | 2 | - | - |
CNTROB | - | - | - | - | 1 | Loss | - |
COA1 | - | - | - | - | 3 | Gain | - |
COA6 | - | - | - | - | 4 | Gain | - |
COASY | p.S29N | Missense | SNP | 0.553 | 2 | - | - |
COBL | - | - | - | - | 3 | Gain | - |
COG2 | - | - | - | - | 4 | Gain | - |
COG3 | - | - | - | - | 1 | Loss | - |
COG5 | - | - | - | - | 1 | Loss | - |
COL12A1 | p.V2746I | Missense | SNP | 0.588 | 2 | - | - |
COL1A2 | - | - | - | - | 1 | Loss | - |
COL26A1 | - | - | - | - | 1 | Loss | - |
COL28A1 | - | - | - | - | 3 | Gain | - |
COL4A3 | - | - | - | - | 1 | Loss | - |
COL4A4 | - | - | - | - | 1 | Loss | - |
COL5A1 | p.R1392G | Missense | SNP | 0.333 | 2 | - | - |
COL6A2 | p.E526G | Missense | SNP | 0.503 | 2 | - | - |
COLGALT2 | - | - | - | - | 4 | Gain | - |
COP1 | - | - | - | - | 4 | Gain | - |
COPA | - | - | - | - | 4 | Gain | - |
COPG2 | - | - | - | - | 1 | Loss | - |
COPRS | - | - | - | - | 3 | Gain | - |
COPS3 | - | - | - | - | 1 | Loss | - |
COPS6 | - | - | - | - | 1 | Loss | - |
COQ8A | - | - | - | - | 4 | Gain | - |
CORO6 | - | - | - | - | 3 | Gain | - |
COX10 | - | - | - | - | 1 | Loss | - |
COX19 | - | - | - | - | 3 | Gain | - |
COX20 | - | - | - | - | 4 | Gain | - |
COX7A2L | - | - | - | - | 1 | Loss | - |
CPA1 | p.R234H | Missense | SNP | 1.000 | 1 | Loss | - |
CPA2 | - | - | - | - | 1 | Loss | - |
CPA4 | - | - | - | - | 1 | Loss | - |
CPA5 | - | - | - | - | 1 | Loss | - |
CPB2 | - | - | - | - | 1 | Loss | - |
CPD | - | - | - | - | 3 | Gain | - |
CPED1 | - | - | - | - | 1 | Loss | - |
CPS1 | p.R1332S | Missense | SNP | 0.627 | 2 | - | - |
CPSF4 | - | - | - | - | 1 | Loss | - |
CPVL | - | - | - | - | 3 | Gain | - |
CR1 | - | - | - | - | 4 | Gain | - |
CR1L | - | - | - | - | 4 | Gain | - |
CR2 | - | - | - | - | 4 | Gain | - |
CRABP2 | - | - | - | - | 4 | Gain | - |
CRAMP1 | - | - | - | - | 3 | Gain | - |
CRB1 | - | - | - | - | 4 | Gain | - |
CRCP | - | - | - | - | 1 | Loss | - |
CRCT1 | - | - | - | - | 4 | Gain | - |
CREB3L2 | - | - | - | - | 1 | Loss | - |
CREB3L4 | - | - | - | - | 4 | Gain | - |
CREB5 | - | - | - | - | 3 | Gain | - |
CREBBP | p.R1446C | Missense | SNP | 0.461 | 2 | - | - |
CREG1 | - | - | - | - | 4 | Gain | - |
CRHR2 | - | - | - | - | 3 | Gain | - |
CRIM1 | - | - | - | - | 1 | Loss | - |
CRIPT | - | - | - | - | 1 | Loss | - |
CRK | - | - | - | - | 1 | Loss | - |
CRLF3 | - | - | - | - | 3 | Gain | - |
CRNN | - | - | - | - | 4 | Gain | - |
CROT | - | - | - | - | 1 | Loss | - |
CRP | - | - | - | - | 4 | Gain | - |
CRTC2 | - | - | - | - | 4 | Gain | - |
CRYAA | - | - | - | - | 1 | Loss | - |
CRYAA2 | - | - | - | - | 1 | Loss | - |
CRYBA1 | - | - | - | - | 3 | Gain | - |
CRYGN | - | - | - | - | 1 | Loss | - |
CSF3 | - | - | - | - | 3 | Gain | - |
CSMD1 | p.N1769S | Missense | SNP | 0.358 | 2 | - | - |
CSPG5 | p.H500Mfs*31 | Frame_Shift_Del | DEL | 0.439 | 2 | - | - |
CSRP1 | - | - | - | - | 4 | Gain | - |
CTAGE15 | - | - | - | - | 1 | Loss | - |
CTAGE6 | - | - | - | - | 1 | Loss | - |
CTC1 | - | - | - | - | 1 | Loss | - |
CTDNEP1 | - | - | - | - | 1 | Loss | - |
CTGF | p.H296Pfs*14 | Frame_Shift_Ins | INS | 0.298 | 2 | - | - |
CTNS | - | - | - | - | 1 | Loss | - |
CTSE | - | - | - | - | 4 | Gain | - |
CTSK | - | - | - | - | 4 | Gain | - |
CTSS | - | - | - | - | 4 | Gain | - |
CTTNBP2 | - | - | - | - | 1 | Loss | - |
CUL1 | - | - | - | - | 1 | Loss | - |
CUL9 | p.R1307W | Missense | SNP | 0.502 | 2 | - | - |
CUX1 | - | - | - | - | 1 | Loss | - |
CWC25 | - | - | - | - | 3 | Gain | - |
CXCL16 | - | - | - | - | 1 | Loss | - |
CYB5D1 | - | - | - | - | 1 | Loss | - |
CYB5D2 | - | - | - | - | 1 | Loss | - |
CYB5R1 | - | - | - | - | 4 | Gain | - |
CYCS | - | - | - | - | 3 | Gain | - |
CYFIP2 | p.A169V | Missense | SNP | 0.609 | 2 | - | - |
CYP1B1 | - | - | - | - | 1 | Loss | - |
CYP24A1 | p.T388M | Missense | SNP | 0.633 | 2 | - | - |
CYP2W1 | - | - | - | - | 3 | Gain | - |
CYP3A4 | - | - | - | - | 1 | Loss | - |
CYP3A43 | - | - | - | - | 1 | Loss | - |
CYP3A5 | - | - | - | - | 1 | Loss | - |
CYP3A7 | - | - | - | - | 1 | Loss | - |
CYP3A7-CYP3A51P | - | - | - | - | 1 | Loss | - |
CYP51A1 | - | - | - | - | 1 | Loss | - |
CYREN | - | - | - | - | 1 | Loss | - |
CYSLTR2 | - | - | - | - | 1 | Loss | - |
CYTH3 | - | - | - | - | 3 | Gain | - |
DAAM2 | p.P544Lfs*62 | Frame_Shift_Del | DEL | 0.518 | 2 | - | - |
DAGLB | - | - | - | - | 3 | Gain | - |
DAP3 | - | - | - | - | 4 | Gain | - |
DARS2 | - | - | - | - | 4 | Gain | - |
DAZAP1 | p.G383Afs*46 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
DBF4 | - | - | - | - | 1 | Loss | - |
DBNL | - | - | - | - | 3 | Gain | - |
DCAF10 | p.R428Q | Missense | SNP | 0.489 | 2 | - | - |
DCAF6 | - | - | - | - | 4 | Gain | - |
DCAF8 | - | - | - | - | 4 | Gain | - |
DCC | p.V755M | Missense | SNP | 0.477 | 2 | - | - |
DCST1 | - | - | - | - | 4 | Gain | - |
DCST2 | - | - | - | - | 4 | Gain | - |
DDC | - | - | - | - | 3 | Gain | - |
DDN | p.V467A | Missense | SNP | 0.508 | 2 | - | - |
DDR2 | - | - | - | - | 4 | Gain | - |
DDX17 | p.K121Sfs*4 | Frame_Shift_Del | DEL | 0.487 | 2 | - | - |
DDX18 | p.A454S | Missense | SNP | 0.500 | 2 | - | - |
DDX23 | p.R344H | Missense | SNP | 0.541 | 2 | - | - |
DDX27 | p.K691Rfs*4 | Frame_Shift_Del | DEL | 0.422 | 2 | - | - |
DDX42 | p.R411* | Nonsense | SNP | 0.563 | 2 | - | - |
DDX52 | - | - | - | - | 3 | Gain | - |
DDX56 | - | - | - | - | 3 | Gain | - |
DDX59 | - | - | - | - | 4 | Gain | - |
DDX60 | p.L1133Yfs*4 | Frame_Shift_Del | DEL | 0.588 | 2 | - | - |
DECR1 | p.R270H | Missense | SNP | 0.456 | 2 | - | - |
DECR2 | - | - | - | - | 3 | Gain | - |
DEDD | - | - | - | - | 4 | Gain | - |
DEFB105B | - | - | - | - | 1 | Loss | - |
DEGS1 | - | - | - | - | 4 | Gain | - |
DENND1B | - | - | - | - | 4 | Gain | - |
DENND2A | - | - | - | - | 1 | Loss | - |
DENND4A | p.S1025I | Missense | SNP | 0.411 | 2 | - | - |
DENND4B | - | - | - | - | 4 | Gain | - |
DENND6A | p.F358Lfs*14 | Frame_Shift_Del | DEL | 0.384 | 2 | - | - |
DERL2 | - | - | - | - | 1 | Loss | - |
DESI2 | - | - | - | - | 4 | Gain | - |
DGKB | - | - | - | - | 3 | Gain | - |
DGKH | - | - | - | - | 1 | Loss | - |
DGKI | - | - | - | - | 1 | Loss | - |
DHCR7 | p.V275I | Missense | SNP | 0.484 | 2 | - | - |
DHH | p.A166T | Missense | SNP | 0.490 | 2 | - | - |
DHRS11 | - | - | - | - | 3 | Gain | - |
DHRS13 | - | - | - | - | 3 | Gain | - |
DHRS7B | - | - | - | - | 1 | Loss | - |
DHRS7C | - | - | - | - | 1 | Loss | - |
DHX33 | - | - | - | - | 1 | Loss | - |
DHX34 | p.T831M | Missense | SNP | 0.458 | 2 | - | - |
DHX57 | - | - | - | - | 1 | Loss | - |
DHX58 | - | - | - | - | 3 | Gain | - |
DHX9 | - | - | - | - | 4 | Gain | - |
DIAPH1 | p.G378R | Missense | SNP | 0.531 | 2 | - | - |
DIRAS2 | p.V111M | Missense | SNP | 0.505 | 2 | - | - |
DISC1 | - | - | - | - | 4 | Gain | - |
DISP1 | - | - | - | - | 4 | Gain | - |
DLAT | p.V242Wfs*5 | Frame_Shift_Del | DEL | 0.433 | 2 | - | - |
DLD | - | - | - | - | 1 | Loss | - |
DLG4 | - | - | - | - | 1 | Loss | - |
DLX5 | - | - | - | - | 1 | Loss | - |
DLX6 | - | - | - | - | 1 | Loss | - |
DMTF1 | - | - | - | - | 1 | Loss | - |
DNA2 | p.E486D | Missense | SNP | 0.485 | 2 | - | - |
DNAAF5 | - | - | - | - | 3 | Gain | - |
DNAH11 | p.E92Gfs*14 | Frame_Shift_Ins | INS | 0.210 | 3 | Gain | - |
DNAH14 | p.T2674Hfs*9 | Frame_Shift_Del | DEL | 0.228 | 4 | Gain | - |
DNAH2 | p.R501H | Missense | SNP | 1.000 | 1 | Loss | - |
DNAH3 | p.R2205C | Missense | SNP | 0.421 | 2 | - | - |
DNAH7 | p.A1625T | Missense | SNP | 0.318 | 2 | - | - |
DNAH9 | - | - | - | - | 1 | Loss | - |
DNAJB6 | - | - | - | - | 1 | Loss | - |
DNAJB7 | p.K295Rfs*25 | Frame_Shift_Del | DEL | 0.515 | 2 | - | - |
DNAJB9 | - | - | - | - | 1 | Loss | - |
DNAJC15 | - | - | - | - | 1 | Loss | - |
DNAJC2 | - | - | - | - | 1 | Loss | - |
DNAJC27 | - | - | - | - | 1 | Loss | - |
DNAJC30 | - | - | - | - | 1 | Loss | - |
DNAJC5G | - | - | - | - | 1 | Loss | - |
DNAJC7 | - | - | - | - | 3 | Gain | - |
DNASE1L2 | - | - | - | - | 3 | Gain | - |
DNM3 | - | - | - | - | 4 | Gain | - |
DNMT3A | - | - | - | - | 1 | Loss | - |
DOC2B | - | - | - | - | 1 | Loss | - |
DOCK4 | - | - | - | - | 1 | Loss | - |
DOCK7 | p.L459S | Missense | SNP | 0.463 | 2 | - | - |
DPH1 | - | - | - | - | 1 | Loss | - |
DPM3 | - | - | - | - | 4 | Gain | - |
DPP6 | - | - | - | - | 1 | Loss | - |
DPT | - | - | - | - | 4 | Gain | - |
DPY19L1 | - | - | - | - | 3 | Gain | - |
DPY30 | - | - | - | - | 1 | Loss | - |
DPYSL5 | - | - | - | - | 1 | Loss | - |
DRC1 | - | - | - | - | 1 | Loss | - |
DRC3 | - | - | - | - | 1 | Loss | - |
DRG2 | - | - | - | - | 1 | Loss | - |
DSCAML1 | p.A1350T | Missense | SNP | 0.447 | 2 | - | - |
DST | p.L1539Wfs*8 | Frame_Shift_Del | DEL | 0.103 | 2 | - | - |
DSTYK | - | - | - | - | 4 | Gain | - |
DTL | - | - | - | - | 4 | Gain | - |
DTNB | - | - | - | - | 1 | Loss | - |
DTX2 | - | - | - | - | 1 | Loss | - |
DTX4 | p.K396Nfs*34 | Frame_Shift_Del | DEL | 0.144 | 2 | - | - |
DUOX1 | p.X309_splice | Splice_Site | SNP | 0.522 | 2 | - | - |
DUS4L | - | - | - | - | 1 | Loss | - |
DUSP10 | - | - | - | - | 4 | Gain | - |
DUSP12 | - | - | - | - | 4 | Gain | - |
DUSP14 | - | - | - | - | 3 | Gain | - |
DUSP23 | - | - | - | - | 4 | Gain | - |
DUSP27 | - | - | - | - | 4 | Gain | - |
DVL2 | - | - | - | - | 1 | Loss | - |
DYNC1H1 | p.R254* p.E1564K | Nonsense Missense | SNP SNP | 0.477 0.467 | 2 | - | - |
DYNC1I1 | - | - | - | - | 1 | Loss | - |
DYNC2H1 | p.Y2879H | Missense | SNP | 0.588 | 2 | - | - |
DYNC2LI1 | - | - | - | - | 1 | Loss | - |
DYRK3 | - | - | - | - | 4 | Gain | - |
E4F1 | - | - | - | - | 3 | Gain | - |
EBAG9 | p.E114* | Nonsense | SNP | 0.429 | 2 | - | - |
EBPL | - | - | - | - | 1 | Loss | - |
ECD | p.E443Rfs*3 | Frame_Shift_Ins | INS | 0.390 | 2 | - | - |
ECI1 | - | - | - | - | 3 | Gain | - |
ECM1 | - | - | - | - | 4 | Gain | - |
EDARADD | - | - | - | - | 4 | Gain | - |
EDEM3 | - | - | - | - | 4 | Gain | - |
EEPD1 | - | - | - | - | 3 | Gain | - |
EFCAB10 | - | - | - | - | 1 | Loss | - |
EFCAB2 | p.I19Sfs*18 | Frame_Shift_Del | DEL | 0.823 | 4 | Gain | - |
EFCAB5 | p.I751Nfs*9 | Frame_Shift_Ins | INS | 0.159 | 3 | Gain | - |
EFCAB8 | p.D1096G | Missense | SNP | 0.453 | 2 | - | - |
EFNA1 | - | - | - | - | 4 | Gain | - |
EFNA3 | - | - | - | - | 4 | Gain | - |
EFNA4 | - | - | - | - | 4 | Gain | - |
EFNB3 | - | - | - | - | 1 | Loss | - |
EFR3B | - | - | - | - | 1 | Loss | - |
EGFR | - | - | - | - | 3 | Gain | - |
EGLN1 | - | - | - | - | 4 | Gain | - |
EHBP1 | p.A1093T | Missense | SNP | 0.446 | 2 | - | - |
EHD3 | p.R184C | Missense | SNP | 1.000 | 1 | Loss | - |
EIF1 | - | - | - | - | 3 | Gain | - |
EIF2AK1 | - | - | - | - | 3 | Gain | - |
EIF2AK2 | - | - | - | - | 1 | Loss | - |
EIF2B3 | p.K148E | Missense | SNP | 0.543 | 2 | - | - |
EIF2B4 | - | - | - | - | 1 | Loss | - |
EIF2D | - | - | - | - | 4 | Gain | - |
EIF3B | - | - | - | - | 3 | Gain | - |
EIF3J | p.E61Rfs*5 | Frame_Shift_Del | DEL | 0.411 | 2 | - | - |
EIF4A1 | - | - | - | - | 1 | Loss | - |
EIF4EBP3 | - | - | - | - | 3 | Gain | - |
EIF4H | - | - | - | - | 1 | Loss | - |
EIF5A | - | - | - | - | 1 | Loss | - |
ELAC2 | - | - | - | - | 1 | Loss | - |
ELF1 | - | - | - | - | 1 | Loss | - |
ELF3 | - | - | - | - | 4 | Gain | - |
ELFN1 | - | - | - | - | 3 | Gain | - |
ELK4 | - | - | - | - | 4 | Gain | - |
ELMO1 | - | - | - | - | 3 | Gain | - |
ELN | - | - | - | - | 1 | Loss | - |
ELP5 | - | - | - | - | 1 | Loss | - |
EMC6 | - | - | - | - | 1 | Loss | - |
EME2 | - | - | - | - | 3 | Gain | - |
EMILIN1 | - | - | - | - | 1 | Loss | - |
EML4 | - | - | - | - | 1 | Loss | - |
EML6 | p.K1357Rfs*9 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
EN2 | - | - | - | - | 1 | Loss | - |
ENAH | - | - | - | - | 4 | Gain | - |
ENO3 | - | - | - | - | 1 | Loss | - |
ENOX1 | - | - | - | - | 1 | Loss | - |
ENPP7P4 | - | - | - | - | ND | ND | AC004923.1--ENPP7P4 |
ENSA | - | - | - | - | 4 | Gain | - |
EP300 | p.A2353V | Missense | SNP | 0.491 | 2 | - | - |
EP400NL | p.V51A | Missense | SNP | 0.531 | ND | ND | - |
EPAS1 | - | - | - | - | 1 | Loss | - |
EPCAM | - | - | - | - | 1 | Loss | - |
EPDR1 | - | - | - | - | 3 | Gain | - |
EPG5 | p.P2570Q | Missense | SNP | 0.408 | 2 | - | - |
EPHA1 | - | - | - | - | 1 | Loss | - |
EPHA2 | p.P460Rfs*33 | Frame_Shift_Del | DEL | 0.465 | 2 | - | - |
EPHA7 | p.E784D | Missense | SNP | 0.611 | 2 | - | - |
EPHB4 | - | - | - | - | 1 | Loss | - |
EPHB6 | - | - | - | - | 1 | Loss | - |
EPHX1 | - | - | - | - | 4 | Gain | - |
EPM2AIP1 | p.S489Ffs*5 | Frame_Shift_Ins | INS | 0.225 | 2 | - | - |
EPN2 | - | - | - | - | 1 | Loss | - |
EPO | - | - | - | - | 1 | Loss | - |
EPOP | - | - | - | - | 3 | Gain | - |
EPRS | - | - | - | - | 4 | Gain | - |
EPS8L1 | p.R181C | Missense | SNP | 0.492 | 2 | - | - |
EPSTI1 | - | - | - | - | 1 | Loss | - |
ERAL1 | - | - | - | - | 3 | Gain | - |
ERBB2 | p.V424I p.P780S | Missense Missense | SNP SNP | 0.367 0.255 | 3 | Gain | - |
ERCC4 | p.R864C | Missense | SNP | 0.462 | 2 | - | - |
ERCC5 | p.E548Vfs*38 | Frame_Shift_Del | DEL | 0.371 | 2 | - | - |
ERI2 | p.N270D | Missense | SNP | 0.609 | 2 | - | - |
ERICH6B | - | - | - | - | 1 | Loss | - |
ERO1B | - | - | - | - | 4 | Gain | - |
ERVV-1 | - | - | - | - | 3 | Gain | - |
ERVV-2 | - | - | - | - | 3 | Gain | - |
ESCO2 | p.R232H | Missense | SNP | 0.108 | 2 | - | - |
ESD | - | - | - | - | 1 | Loss | - |
ESRRG | p.L463Wfs*10 | Frame_Shift_Del | DEL | 0.332 | 4 | Gain | - |
ESYT2 | - | - | - | - | 1 | Loss | - |
ETNK2 | - | - | - | - | 4 | Gain | - |
ETV1 | p.T139Hfs*24 | Frame_Shift_Ins | INS | 0.227 | 3 | Gain | - |
ETV3 | - | - | - | - | 4 | Gain | - |
ETV3L | - | - | - | - | 4 | Gain | - |
ETV6 | p.W380C | Missense | SNP | 0.549 | 2 | - | - |
EVI2A | - | - | - | - | 3 | Gain | - |
EVI2B | - | - | - | - | 3 | Gain | - |
EVPLL | - | - | - | - | 1 | Loss | - |
EVX1 | - | - | - | - | 3 | Gain | - |
EXO1 | - | - | - | - | 4 | Gain | - |
EXOC4 | - | - | - | - | 1 | Loss | - |
EXOC8 | - | - | - | - | 4 | Gain | - |
EZH2 | - | - | - | - | 1 | Loss | - |
F11R | - | - | - | - | 4 | Gain | - |
F13B | - | - | - | - | 4 | Gain | - |
F5 | - | - | - | - | 4 | Gain | - |
FAHD1 | - | - | - | - | 3 | Gain | - |
FAM126A | - | - | - | - | 3 | Gain | - |
FAM126B | p.T36Hfs*47 | Frame_Shift_Del | DEL | 0.472 | 2 | - | - |
FAM129A | - | - | - | - | 4 | Gain | - |
FAM131B | - | - | - | - | 1 | Loss | - |
FAM133B | - | - | - | - | 1 | Loss | - |
FAM155A | p.Q91R | Missense | SNP | 0.490 | 2 | - | - |
FAM160A2 | p.L714P | Missense | SNP | 0.519 | 2 | - | - |
FAM163A | - | - | - | - | 4 | Gain | - |
FAM173A | - | - | - | - | 3 | Gain | - |
FAM177B | - | - | - | - | 4 | Gain | - |
FAM180A | - | - | - | - | 1 | Loss | - |
FAM185A | - | - | - | - | 1 | Loss | - |
FAM189B | - | - | - | - | 4 | Gain | - |
FAM200A | - | - | - | - | 1 | Loss | - |
FAM20B | - | - | - | - | 4 | Gain | - |
FAM20C | - | - | - | - | 3 | Gain | - |
FAM216B | - | - | - | - | 1 | Loss | - |
FAM220A | - | - | - | - | 3 | Gain | - |
FAM221A | - | - | - | - | 3 | Gain | - |
FAM222B | - | - | - | - | 3 | Gain | - |
FAM234A | - | - | - | - | 3 | Gain | - |
FAM3C | - | - | - | - | 1 | Loss | - |
FAM47C | p.S772T | Missense | SNP | 0.984 | ND | ND | - |
FAM57A | - | - | - | - | 1 | Loss | - |
FAM71A | - | - | - | - | 4 | Gain | - |
FAM71F1 | - | - | - | - | 1 | Loss | - |
FAM71F2 | - | - | - | - | 1 | Loss | - |
FAM72A | - | - | - | - | 4 | Gain | - |
FAM72C | - | - | - | - | 3 | Gain | - |
FAM72D | - | - | - | - | 3 | Gain | - |
FAM78B | - | - | - | - | 4 | Gain | - |
FAM83G | - | - | - | - | 1 | Loss | - |
FAM89A | - | - | - | - | 4 | Gain | - |
FAM91A1 | p.V317I | Missense | SNP | 0.333 | 2 | - | - |
FAM98A | - | - | - | - | 1 | Loss | - |
FAM98C | p.R318H | Missense | SNP | 0.468 | 2 | - | - |
FANCA | p.T306M | Missense | SNP | 0.411 | 2 | - | - |
FASLG | - | - | - | - | 4 | Gain | - |
FASTK | - | - | - | - | 1 | Loss | - |
FAT3 | p.S3694R | Missense | SNP | 0.500 | 2 | - | - |
FBN3 | p.G1577Vfs*72 | Frame_Shift_Del | DEL | 0.536 | 2 | - | - |
FBXL13 | - | - | - | - | 1 | Loss | - |
FBXL16 | - | - | - | - | 3 | Gain | - |
FBXL18 | - | - | - | - | 3 | Gain | - |
FBXL20 | - | - | - | - | 3 | Gain | - |
FBXO11 | - | - | - | - | 1 | Loss | - |
FBXO24 | - | - | - | - | 1 | Loss | - |
FBXO28 | - | - | - | - | 4 | Gain | - |
FBXO34 | p.I120Lfs*13 | Frame_Shift_Del | DEL | 0.409 | 2 | - | - |
FBXO39 | - | - | - | - | 1 | Loss | - |
FBXO47 | - | - | - | - | 3 | Gain | - |
FBXW10 | - | - | - | - | 1 | Loss | - |
FCAMR | p.P477H | Missense | SNP | 0.193 | 4 | Gain | - |
FCER1A | - | - | - | - | 4 | Gain | - |
FCER1G | - | - | - | - | 4 | Gain | - |
FCGR1A | - | - | - | - | 3 | Gain | - |
FCGR2A | - | - | - | - | 4 | Gain | - |
FCGR2B | - | - | - | - | 4 | Gain | - |
FCGR2C | - | - | - | - | 4 | Gain | - |
FCGR3A | - | - | - | - | 4 | Gain | - |
FCGR3B | - | - | - | - | 4 | Gain | - |
FCMR | - | - | - | - | 4 | Gain | - |
FCN2 | p.G139R | Missense | SNP | 0.446 | 2 | - | - |
FCRL1 | - | - | - | - | 4 | Gain | - |
FCRL2 | - | - | - | - | 4 | Gain | - |
FCRL3 | - | - | - | - | 4 | Gain | - |
FCRL4 | - | - | - | - | 4 | Gain | - |
FCRL5 | - | - | - | - | 4 | Gain | - |
FCRL6 | - | - | - | - | 4 | Gain | - |
FCRLA | - | - | - | - | 4 | Gain | - |
FCRLB | - | - | - | - | 4 | Gain | - |
FDPS | - | - | - | - | 4 | Gain | - |
FERD3L | - | - | - | - | 3 | Gain | - |
FEZ2 | - | - | - | - | 1 | Loss | - |
FEZF1 | - | - | - | - | 1 | Loss | - |
FGD3 | p.A107V | Missense | SNP | 0.522 | 2 | - | - |
FGF11 | - | - | - | - | 1 | Loss | - |
FGFR4 | p.R650C | Missense | SNP | 0.537 | 2 | - | - |
FGL2 | - | - | - | - | 1 | Loss | - |
FH | - | - | - | - | 4 | Gain | - |
FHAD1 | p.A294T | Missense | SNP | 0.440 | 2 | - | - |
FIGNL1 | - | - | - | - | 3 | Gain | - |
FIS1 | - | - | - | - | 1 | Loss | - |
FKBP10 | - | - | - | - | 3 | Gain | - |
FKBP14 | - | - | - | - | 3 | Gain | - |
FKBP6 | - | - | - | - | 1 | Loss | - |
FKBP9 | - | - | - | - | 3 | Gain | - |
FLAD1 | - | - | - | - | 4 | Gain | - |
FLCN | - | - | - | - | 1 | Loss | - |
FLG | p.D2520N p.R1781C | Missense Missense | SNP SNP | 0.712 0.207 | 6 | Amp | - |
FLG2 | - | - | - | - | 4 | Gain | - |
FLII | - | - | - | - | 1 | Loss | - |
FLNC | - | - | - | - | 1 | Loss | - |
FLOT2 | - | - | - | - | 3 | Gain | - |
FLVCR1 | - | - | - | - | 4 | Gain | - |
FMC1 | - | - | - | - | 1 | Loss | - |
FMN2 | p.Q1624H | Missense | SNP | 0.211 | 4 | Gain | - |
FMO1 | - | - | - | - | 4 | Gain | - |
FMO2 | - | - | - | - | 4 | Gain | - |
FMO3 | - | - | - | - | 4 | Gain | - |
FMO4 | - | - | - | - | 4 | Gain | - |
FMO5 | p.K260Rfs*2 | Frame_Shift_Del | DEL | 0.308 | 5 | Amp | - |
FMOD | - | - | - | - | 4 | Gain | - |
FNDC3A | - | - | - | - | 1 | Loss | - |
FNDC4 | p.S11Afs*17 | Frame_Shift_Del | DEL | 0.194 | 1 | Loss | - |
FNDC8 | - | - | - | - | 3 | Gain | - |
FOSL2 | - | - | - | - | 1 | Loss | - |
FOXA1 | p.A131T | Missense | SNP | 0.502 | 2 | - | - |
FOXJ2 | p.P307Q | Missense | SNP | 0.500 | 2 | - | - |
FOXK1 | - | - | - | - | 3 | Gain | - |
FOXN1 | p.V636M | Missense | SNP | 0.289 | 3 | Gain | - |
FOXN2 | - | - | - | - | 1 | Loss | - |
FOXO1 | - | - | - | - | 1 | Loss | - |
FOXP1 | p.L414* | Frame_Shift_Del | DEL | 0.160 | 2 | - | - |
FOXP2 | - | - | - | - | 1 | Loss | - |
FOXS1 | p.H99R | Missense | SNP | 0.471 | 2 | - | - |
FP565260.1 | - | - | - | - | 1 | Loss | - |
FP565260.2 | - | - | - | - | 1 | Loss | - |
FP565260.3 | - | - | - | - | 1 | Loss | - |
FP565260.4 | - | - | - | - | 1 | Loss | - |
FP565260.6 | - | - | - | - | 1 | Loss | - |
FPR3 | p.I279N | Missense | SNP | 0.395 | 2 | - | - |
FSCN1 | - | - | - | - | 3 | Gain | - |
FSCN3 | - | - | - | - | 1 | Loss | - |
FSHR | - | - | - | - | 1 | Loss | - |
FSIP2 | p.V6411* | Frame_Shift_Del | DEL | 0.406 | 2 | - | - |
FSTL5 | p.P590Q | Missense | SNP | 0.524 | 2 | - | - |
FXR1 | p.R368C | Missense | SNP | 0.308 | 2 | - | - |
FXR2 | - | - | - | - | 1 | Loss | - |
FZD1 | - | - | - | - | 1 | Loss | - |
FZD9 | - | - | - | - | 1 | Loss | - |
G0S2 | - | - | - | - | 4 | Gain | - |
G2E3 | - | - | - | - | 1 | Loss | - |
GABARAP | - | - | - | - | 1 | Loss | - |
GABBR2 | p.G603Afs*4 | Frame_Shift_Del | DEL | 0.458 | 2 | - | - |
GABPB2 | - | - | - | - | 4 | Gain | - |
GABRB3 | p.A277V | Missense | SNP | 0.538 | 2 | - | - |
GABRG3 | p.G157R | Missense | SNP | 0.547 | 2 | - | - |
GAD1 | p.E203D | Missense | SNP | 0.554 | 2 | - | - |
GAK | p.N986Rfs*4 p.A892T | Frame_Shift_Del Missense | DEL SNP | 0.500 0.472 | 2 | - | - |
GAL3ST4 | - | - | - | - | 1 | Loss | - |
GALM | - | - | - | - | 1 | Loss | - |
GALNT11 | - | - | - | - | 1 | Loss | - |
GALNT14 | - | - | - | - | 1 | Loss | - |
GALNT17 | - | - | - | - | 1 | Loss | - |
GALNT2 | - | - | - | - | 4 | Gain | - |
GALNTL5 | - | - | - | - | 1 | Loss | - |
GAN | p.T119Pfs*53 | Frame_Shift_Del | DEL | 0.417 | 2 | - | - |
GAREM2 | - | - | - | - | 1 | Loss | - |
GARS | - | - | - | - | 3 | Gain | - |
GAS2L2 | - | - | - | - | 3 | Gain | - |
GAS7 | - | - | - | - | 1 | Loss | - |
GAST | - | - | - | - | 3 | Gain | - |
GATAD1 | - | - | - | - | 1 | Loss | - |
GATAD2B | - | - | - | - | 4 | Gain | - |
GATB | p.K421Rfs*2 | Frame_Shift_Del | DEL | 0.651 | 2 | - | - |
GATD3B | - | - | - | - | 1 | Loss | - |
GBA | - | - | - | - | 4 | Gain | - |
GBX1 | - | - | - | - | 1 | Loss | - |
GCC1 | - | - | - | - | 1 | Loss | - |
GCK | - | - | - | - | 3 | Gain | - |
GCKR | - | - | - | - | 1 | Loss | - |
GCSAML | - | - | - | - | 4 | Gain | - |
GCSAML-AS1 | - | - | - | - | 4 | Gain | - |
GEMIN4 | - | - | - | - | 1 | Loss | - |
GEMIN6 | - | - | - | - | 1 | Loss | - |
GET4 | - | - | - | - | 3 | Gain | - |
GFER | - | - | - | - | 3 | Gain | - |
GGCT | - | - | - | - | 3 | Gain | - |
GGNBP2 | - | - | - | - | 3 | Gain | - |
GGPS1 | - | - | - | - | 4 | Gain | - |
GGT6 | - | - | - | - | 1 | Loss | - |
GGT7 | p.G594D | Missense | SNP | 0.484 | 2 | - | - |
GHDC | - | - | - | - | 3 | Gain | - |
GHRHR | - | - | - | - | 3 | Gain | - |
GID4 | - | - | - | - | 1 | Loss | - |
GIGYF1 | - | - | - | - | 1 | Loss | - |
GIMAP1 | - | - | - | - | 1 | Loss | - |
GIMAP1-GIMAP5 | - | - | - | - | 1 | Loss | - |
GIMAP2 | - | - | - | - | 1 | Loss | - |
GIMAP4 | p.V212M | Missense | SNP | 1.000 | 1 | Loss | - |
GIMAP5 | - | - | - | - | 1 | Loss | - |
GIMAP6 | - | - | - | - | 1 | Loss | - |
GIMAP7 | - | - | - | - | 1 | Loss | - |
GIMAP8 | - | - | - | - | 1 | Loss | - |
GIT1 | - | - | - | - | 3 | Gain | - |
GJA1 | p.R299H | Missense | SNP | 0.457 | 2 | - | - |
GJA5 | - | - | - | - | 5 | Amp | - |
GJA8 | - | - | - | - | 5 | Amp | - |
GJC2 | - | - | - | - | 4 | Gain | - |
GJC3 | - | - | - | - | 1 | Loss | - |
GJD3 | - | - | - | - | 3 | Gain | - |
GLCCI1 | - | - | - | - | 3 | Gain | - |
GLI3 | - | - | - | - | 3 | Gain | - |
GLMP | - | - | - | - | 4 | Gain | - |
GLOD4 | - | - | - | - | 1 | Loss | - |
GLP2R | - | - | - | - | 1 | Loss | - |
GLRA1 | p.W198C | Missense | SNP | 0.584 | 2 | - | - |
GLRX2 | - | - | - | - | 4 | Gain | - |
GLTPD2 | - | - | - | - | 1 | Loss | - |
GLUL | - | - | - | - | 4 | Gain | - |
GNA12 | - | - | - | - | 3 | Gain | - |
GNAI1 | - | - | - | - | 1 | Loss | - |
GNAS | p.R16C | Missense | SNP | 0.445 | 2 | - | - |
GNAT3 | - | - | - | - | 1 | Loss | - |
GNAZ | p.Q205Rfs*29 | Frame_Shift_Del | DEL | 0.449 | 2 | - | - |
GNB2 | - | - | - | - | 1 | Loss | - |
GNG11 | - | - | - | - | 1 | Loss | - |
GNG13 | - | - | - | - | 3 | Gain | - |
GNG4 | - | - | - | - | 4 | Gain | - |
GNGT1 | - | - | - | - | 1 | Loss | - |
GNPAT | - | - | - | - | 4 | Gain | - |
GNPTG | - | - | - | - | 3 | Gain | - |
GOLPH3L | - | - | - | - | 4 | Gain | - |
GOLT1A | - | - | - | - | 4 | Gain | - |
GON4L | p.M134* | Frame_Shift_Del | DEL | 0.246 | 4 | Gain | - |
GORAB | - | - | - | - | 4 | Gain | - |
GOSR1 | - | - | - | - | 3 | Gain | - |
GP1BA | - | - | - | - | 1 | Loss | - |
GPA33 | - | - | - | - | 4 | Gain | - |
GPALPP1 | - | - | - | - | 1 | Loss | - |
GPATCH11 | - | - | - | - | 1 | Loss | - |
GPATCH2 | - | - | - | - | 4 | Gain | - |
GPATCH4 | - | - | - | - | 4 | Gain | - |
GPC2 | - | - | - | - | 1 | Loss | - |
GPER1 | - | - | - | - | 3 | Gain | - |
GPN1 | - | - | - | - | 1 | Loss | - |
GPNMB | - | - | - | - | 3 | Gain | - |
GPR137B | - | - | - | - | 4 | Gain | - |
GPR161 | p.G517Afs*13 | Frame_Shift_Del | DEL | 0.234 | 4 | Gain | - |
GPR179 | - | - | - | - | 3 | Gain | - |
GPR22 | - | - | - | - | 1 | Loss | - |
GPR25 | - | - | - | - | 4 | Gain | - |
GPR37 | - | - | - | - | 1 | Loss | - |
GPR37L1 | - | - | - | - | 4 | Gain | - |
GPR52 | - | - | - | - | 4 | Gain | - |
GPR85 | - | - | - | - | 1 | Loss | - |
GPR88 | p.G45Afs*27 | Frame_Shift_Del | DEL | 0.449 | 2 | - | - |
GPR89A | - | - | - | - | 3 | Gain | - |
GPR89B | - | - | - | - | 5 | Amp | - |
GPRASP1 | p.G1084Afs*66 | Frame_Shift_Del | DEL | 0.905 | ND | ND | - |
GPS2 | - | - | - | - | 1 | Loss | - |
GPSM1 | p.R102H | Missense | SNP | 0.570 | 2 | - | - |
GRAP | - | - | - | - | 1 | Loss | - |
GRAPL | - | - | - | - | 1 | Loss | - |
GRB10 | - | - | - | - | 3 | Gain | - |
GRB7 | - | - | - | - | 3 | Gain | - |
GREM2 | - | - | - | - | 4 | Gain | - |
GRID2IP | - | - | - | - | 3 | Gain | - |
GRIFIN | - | - | - | - | 3 | Gain | - |
GRIK1 | p.S345T | Missense | SNP | 0.490 | 2 | - | - |
GRM3 | - | - | - | - | 1 | Loss | - |
GRM8 | - | - | - | - | 1 | Loss | - |
GSAP | - | - | - | - | 1 | Loss | - |
GSDMA | - | - | - | - | 3 | Gain | - |
GSDMB | - | - | - | - | 3 | Gain | - |
GSDME | - | - | - | - | 3 | Gain | - |
GSE1 | p.S572L | Missense | SNP | 0.445 | 2 | - | - |
GSTK1 | - | - | - | - | 1 | Loss | - |
GTF2A1L | - | - | - | - | 1 | Loss | - |
GTF2F2 | - | - | - | - | 1 | Loss | - |
GTF2I | - | - | - | - | 1 | Loss | - |
GTF2IRD1 | - | - | - | - | 1 | Loss | - |
GTF2IRD2 | - | - | - | - | 1 | Loss | - |
GTF2IRD2B | - | - | - | - | 1 | Loss | - |
GTF3C1 | p.V1592M | Missense | SNP | 0.417 | 2 | - | - |
GTF3C2 | - | - | - | - | 1 | Loss | - |
GTPBP10 | - | - | - | - | 1 | Loss | - |
GUCY2D | - | - | - | - | 1 | Loss | - |
GUK1 | - | - | - | - | 4 | Gain | - |
GUSB | - | - | - | - | 1 | Loss | - |
H2AFV | - | - | - | - | 3 | Gain | - |
H2BFS | - | - | - | - | 1 | Loss | - |
H3F3A | - | - | - | - | 4 | Gain | - |
HAAO | - | - | - | - | 1 | Loss | - |
HADHA | - | - | - | - | 1 | Loss | - |
HADHB | - | - | - | - | 1 | Loss | - |
HAGH | - | - | - | - | 3 | Gain | - |
HAGHL | - | - | - | - | 3 | Gain | - |
HAP1 | - | - | - | - | 3 | Gain | - |
HAPLN2 | - | - | - | - | 4 | Gain | - |
HARBI1 | p.R168Q | Missense | SNP | 0.473 | 2 | - | - |
HAS1 | p.S96N | Missense | SNP | 0.447 | 2 | - | - |
HASPIN | - | - | - | - | 1 | Loss | - |
HAX1 | - | - | - | - | 4 | Gain | - |
HBA1 | - | - | - | - | 3 | Gain | - |
HBA2 | - | - | - | - | 3 | Gain | - |
HBM | - | - | - | - | 3 | Gain | - |
HBP1 | - | - | - | - | 1 | Loss | - |
HBQ1 | - | - | - | - | 3 | Gain | - |
HBZ | - | - | - | - | 3 | Gain | - |
HCAR2 | p.L345S | Missense | SNP | 0.371 | 2 | - | - |
HCN3 | - | - | - | - | 4 | Gain | - |
HCRT | - | - | - | - | 3 | Gain | - |
HDAC9 | - | - | - | - | 3 | Gain | - |
HDGF | - | - | - | - | 4 | Gain | - |
HEATR1 | - | - | - | - | 4 | Gain | - |
HEATR5B | - | - | - | - | 1 | Loss | - |
HEATR9 | - | - | - | - | 3 | Gain | - |
HECA | p.R346W | Missense | SNP | 0.452 | 2 | - | - |
HECTD4 | p.E3909K p.V2795I | Missense Missense | SNP SNP | 0.438 0.471 | 2 | - | - |
HECW1 | - | - | - | - | 3 | Gain | - |
HEPACAM2 | - | - | - | - | 1 | Loss | - |
HERPUD2 | - | - | - | - | 3 | Gain | - |
HES7 | - | - | - | - | 1 | Loss | - |
HGF | - | - | - | - | 1 | Loss | - |
HHAT | - | - | - | - | 4 | Gain | - |
HHIPL2 | - | - | - | - | 4 | Gain | - |
HIBADH | - | - | - | - | 3 | Gain | - |
HIC1 | - | - | - | - | 1 | Loss | - |
HILPDA | - | - | - | - | 1 | Loss | - |
HIP1 | - | - | - | - | 1 | Loss | - |
HIPK2 | p.R133H | Missense | SNP | 1.000 | 1 | Loss | - |
HIST1H1E | p.K183Rfs*46 | Frame_Shift_Del | DEL | 0.522 | 2 | - | - |
HIST1H2BN | p.Y41H | Missense | SNP | 0.511 | 2 | - | - |
HIST2H2AB | - | - | - | - | 4 | Gain | - |
HIST2H2AC | - | - | - | - | 4 | Gain | - |
HIST2H2BE | - | - | - | - | 4 | Gain | - |
HIST2H2BF | - | - | - | - | 3 | Gain | - |
HIST2H3A | - | - | - | - | 4 | Gain | - |
HIST2H3C | - | - | - | - | 4 | Gain | - |
HIST2H3D | - | - | - | - | 4 | Gain | - |
HIST2H3PS2 | - | - | - | - | 3 | Gain | - |
HIST2H4A | - | - | - | - | 4 | Gain | - |
HIST2H4B | - | - | - | - | 4 | Gain | - |
HIST3H2A | - | - | - | - | 4 | Gain | - |
HIST3H2BB | - | - | - | - | 4 | Gain | - |
HIST3H3 | - | - | - | - | 4 | Gain | - |
HJV | - | - | - | - | 3 | Gain | - |
HLA-DOA | p.R105C | Missense | SNP | 0.474 | 2 | - | - |
HLX | - | - | - | - | 4 | Gain | - |
HMCN1 | - | - | - | - | 4 | Gain | - |
HMGXB4 | p.K391Rfs*33 | Frame_Shift_Del | DEL | 0.547 | 2 | - | - |
HMX2 | p.K79Qfs*39 | Frame_Shift_Ins | INS | 0.346 | 2 | - | - |
HNF1B | - | - | - | - | 3 | Gain | - |
HNF4A | p.G231R | Missense | SNP | 0.432 | 2 | - | - |
HNRNPA2B1 | - | - | - | - | 3 | Gain | - |
HNRNPLL | - | - | - | - | 1 | Loss | - |
HNRNPU | - | - | - | - | 4 | Gain | - |
HORMAD1 | - | - | - | - | 4 | Gain | - |
HOXA1 | - | - | - | - | 3 | Gain | - |
HOXA10 | - | - | - | - | 3 | Gain | - |
HOXA11 | - | - | - | - | 3 | Gain | - |
HOXA13 | p.A92V | Missense | SNP | 0.339 | 3 | Gain | - |
HOXA2 | - | - | - | - | 3 | Gain | - |
HOXA3 | - | - | - | - | 3 | Gain | - |
HOXA4 | - | - | - | - | 3 | Gain | - |
HOXA5 | - | - | - | - | 3 | Gain | - |
HOXA6 | - | - | - | - | 3 | Gain | - |
HOXA7 | - | - | - | - | 3 | Gain | - |
HOXA9 | - | - | - | - | 3 | Gain | - |
HOXB3 | p.Q34Nfs*41 | Frame_Shift_Del | DEL | 0.498 | 2 | - | - |
HPR | p.S286Y | Missense | SNP | 0.487 | 2 | - | - |
HPS1 | p.M325Pfs*7 | Frame_Shift_Ins | INS | 0.256 | 2 | - | - |
HRNR | - | - | - | - | 4 | Gain | - |
HS3ST3A1 | p.T270M | Missense | SNP | 0.559 | 1 | Loss | - |
HS3ST3B1 | - | - | - | - | 1 | Loss | - |
HS3ST6 | - | - | - | - | 3 | Gain | - |
HSCB | p.R52Gfs*73 | Frame_Shift_Del | DEL | 0.506 | 2 | - | - |
HSD11B1 | - | - | - | - | 4 | Gain | - |
HSD17B7 | - | - | - | - | 4 | Gain | - |
HSD3B7 | p.R156M | Missense | SNP | 0.595 | 2 | - | - |
HSF2BP | - | - | - | - | 1 | Loss | - |
HSPA6 | - | - | - | - | 4 | Gain | - |
HSPB1 | - | - | - | - | 1 | Loss | - |
HSPB9 | - | - | - | - | 3 | Gain | - |
HSPG2 | p.T972M | Missense | SNP | 0.421 | 2 | - | - |
HTR2A | - | - | - | - | 1 | Loss | - |
HTR2C | p.S149L | Missense | SNP | 1.000 | ND | ND | - |
HTR5A | - | - | - | - | 1 | Loss | - |
HUS1 | - | - | - | - | 3 | Gain | - |
HYAL4 | - | - | - | - | 1 | Loss | - |
HYDIN | p.R2533L p.L849F | Missense Missense | SNP SNP | 0.493 0.522 | 2 | - | - |
IARS2 | - | - | - | - | 4 | Gain | - |
IBA57 | - | - | - | - | 4 | Gain | - |
ICA1 | - | - | - | - | 3 | Gain | - |
ICE1 | p.F326Lfs*82 | Frame_Shift_Del | DEL | 0.384 | 2 | - | - |
IER5 | - | - | - | - | 4 | Gain | - |
IFI16 | - | - | - | - | 4 | Gain | - |
IFRD1 | - | - | - | - | 1 | Loss | - |
IFT140 | - | - | - | - | 3 | Gain | - |
IFT172 | - | - | - | - | 1 | Loss | - |
IFT20 | - | - | - | - | 3 | Gain | - |
IFT22 | - | - | - | - | 1 | Loss | - |
IGF2BP3 | - | - | - | - | 3 | Gain | - |
IGFALS | - | - | - | - | 3 | Gain | - |
IGFBP1 | - | - | - | - | 3 | Gain | - |
IGFBP3 | - | - | - | - | 3 | Gain | - |
IGFBP4 | - | - | - | - | 3 | Gain | - |
IGFN1 | - | - | - | - | 4 | Gain | - |
IGSF8 | - | - | - | - | 4 | Gain | - |
IGSF9 | - | - | - | - | 4 | Gain | - |
IKBKE | - | - | - | - | 4 | Gain | - |
IKZF1 | - | - | - | - | 3 | Gain | - |
IKZF3 | - | - | - | - | 3 | Gain | - |
IL10 | - | - | - | - | 4 | Gain | - |
IL19 | - | - | - | - | 4 | Gain | - |
IL1RAP | p.P663Lfs*66 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
IL20 | - | - | - | - | 4 | Gain | - |
IL24 | - | - | - | - | 4 | Gain | - |
IL36B | p.R15C | Missense | SNP | 0.528 | 2 | - | - |
IL4R | p.E57K | Missense | SNP | 0.484 | 2 | - | - |
IL6 | - | - | - | - | 3 | Gain | - |
IL6R | - | - | - | - | 4 | Gain | - |
ILDR2 | - | - | - | - | 4 | Gain | - |
ILF2 | - | - | - | - | 4 | Gain | - |
IMMP2L | - | - | - | - | 1 | Loss | - |
IMPDH1 | - | - | - | - | 1 | Loss | - |
INAVA | - | - | - | - | 4 | Gain | - |
INCA1 | - | - | - | - | 1 | Loss | - |
ING3 | - | - | - | - | 1 | Loss | - |
INHBA | - | - | - | - | 3 | Gain | - |
INMT | - | - | - | - | 3 | Gain | - |
INMT-MINDY4 | - | - | - | - | 3 | Gain | - |
INPP5K | - | - | - | - | 1 | Loss | - |
INSIG1 | - | - | - | - | 1 | Loss | - |
INSR | p.D523Rfs*40 | Frame_Shift_Ins | INS | 0.390 | 2 | - | - |
INSRR | - | - | - | - | 4 | Gain | - |
INTS1 | p.R496Q | Missense | SNP | 0.681 | 3 | Gain | - |
INTS3 | - | - | - | - | 4 | Gain | - |
INTS7 | - | - | - | - | 4 | Gain | - |
IPO8 | p.X692_splice | Splice_Site | SNP | 0.556 | 2 | - | - |
IPO9 | - | - | - | - | 4 | Gain | - |
IQCE | - | - | - | - | 3 | Gain | - |
IQGAP3 | - | - | - | - | 4 | Gain | - |
IQUB | - | - | - | - | 1 | Loss | - |
IRF2BP1 | p.A430V | Missense | SNP | 0.534 | 2 | - | - |
IRF2BP2 | - | - | - | - | 4 | Gain | - |
IRF5 | - | - | - | - | 1 | Loss | - |
IRF6 | - | - | - | - | 4 | Gain | - |
IRS1 | p.G1062Afs*8 | Frame_Shift_Del | DEL | 0.426 | 2 | - | - |
IRX1 | p.P458L | Missense | SNP | 0.540 | 2 | - | - |
IRX4 | p.G256Afs*46 | Frame_Shift_Del | DEL | 0.468 | 2 | - | - |
ISG20L2 | - | - | - | - | 4 | Gain | - |
ISPD | - | - | - | - | 3 | Gain | - |
ITGA10 | - | - | - | - | 3 | Gain | - |
ITGAE | - | - | - | - | 1 | Loss | - |
ITGAV | p.S1046Qfs*8 | Frame_Shift_Del | DEL | 0.569 | 2 | - | - |
ITGB8 | - | - | - | - | 3 | Gain | - |
ITLN1 | - | - | - | - | 4 | Gain | - |
ITLN2 | - | - | - | - | 4 | Gain | - |
ITM2B | - | - | - | - | 1 | Loss | - |
ITPKB | - | - | - | - | 4 | Gain | - |
ITPR1 | p.W282* | Nonsense | SNP | 0.472 | 2 | - | - |
ITPRID1 | - | - | - | - | 3 | Gain | - |
IVL | - | - | - | - | 4 | Gain | - |
IVNS1ABP | - | - | - | - | 4 | Gain | - |
JADE1 | p.T133M | Missense | SNP | 0.510 | 2 | - | - |
JARID2 | p.Q119R | Missense | SNP | 0.551 | 2 | - | - |
JAZF1 | - | - | - | - | 3 | Gain | - |
JMJD4 | - | - | - | - | 4 | Gain | - |
JMJD8 | - | - | - | - | 3 | Gain | - |
JPT2 | - | - | - | - | 3 | Gain | - |
JTB | - | - | - | - | 4 | Gain | - |
JUP | - | - | - | - | 3 | Gain | - |
KANSL1 | p.G204Vfs*2 | Frame_Shift_Del | DEL | 0.291 | 2 | - | - |
KAT2A | p.E166D | Missense | SNP | 0.062 | 3 | Gain | - |
KBTBD2 | - | - | - | - | 3 | Gain | - |
KBTBD6 | - | - | - | - | 1 | Loss | - |
KBTBD7 | - | - | - | - | 1 | Loss | - |
KCNAB3 | p.G46Vfs*33 | Frame_Shift_Del | DEL | 0.980 | 1 | Loss | - |
KCNB2 | p.R29Q | Missense | SNP | 0.512 | 2 | - | - |
KCND2 | - | - | - | - | 1 | Loss | - |
KCNG3 | - | - | - | - | 1 | Loss | - |
KCNH1 | - | - | - | - | 4 | Gain | - |
KCNH2 | - | - | - | - | 1 | Loss | - |
KCNH3 | p.R566H | Missense | SNP | 0.497 | 2 | - | - |
KCNH4 | - | - | - | - | 3 | Gain | - |
KCNJ10 | - | - | - | - | 4 | Gain | - |
KCNJ12 | - | - | - | - | 1 | Loss | - |
KCNJ18 | - | - | - | - | 1 | Loss | - |
KCNJ9 | - | - | - | - | 4 | Gain | - |
KCNK1 | - | - | - | - | 4 | Gain | - |
KCNK12 | - | - | - | - | 1 | Loss | - |
KCNK2 | - | - | - | - | 4 | Gain | - |
KCNK3 | - | - | - | - | 1 | Loss | - |
KCNMA1 | p.N798Tfs*7 | Frame_Shift_Del | DEL | 0.506 | 2 | - | - |
KCNN3 | - | - | - | - | 4 | Gain | - |
KCNQ3 | p.R236H | Missense | SNP | 0.488 | 2 | - | - |
KCNQ5 | p.P2S | Missense | SNP | 0.452 | 2 | - | - |
KCNRG | - | - | - | - | 1 | Loss | - |
KCNT2 | - | - | - | - | 4 | Gain | - |
KCP | - | - | - | - | 1 | Loss | - |
KCTD11 | - | - | - | - | 1 | Loss | - |
KCTD3 | - | - | - | - | 4 | Gain | - |
KCTD4 | - | - | - | - | 1 | Loss | - |
KCTD7 | - | - | - | - | 1 | Loss | - |
KDELR2 | - | - | - | - | 3 | Gain | - |
KDM5B | - | - | - | - | 4 | Gain | - |
KDM6B | - | - | - | - | 1 | Loss | - |
KDM7A | - | - | - | - | 1 | Loss | - |
KEL | p.E78D | Missense | SNP | 1.000 | 1 | Loss | - |
KHDC4 | - | - | - | - | 4 | Gain | - |
KHK | - | - | - | - | 1 | Loss | - |
KHSRP | p.G410Afs*18 | Frame_Shift_Del | DEL | 0.490 | 2 | - | - |
KIAA0040 | - | - | - | - | 4 | Gain | - |
KIAA0100 | - | - | - | - | 3 | Gain | - |
KIAA0753 | - | - | - | - | 1 | Loss | - |
KIAA0895 | - | - | - | - | 3 | Gain | - |
KIAA1147 | - | - | - | - | 1 | Loss | - |
KIAA1161 | p.T388M | Missense | SNP | 0.234 | ND | ND | - |
KIAA1324L | p.V235L | Missense | SNP | 1.000 | 1 | Loss | - |
KIAA1549 | - | - | - | - | 1 | Loss | - |
KIAA1614 | - | - | - | - | 4 | Gain | - |
KIF14 | - | - | - | - | 4 | Gain | - |
KIF1C | - | - | - | - | 1 | Loss | - |
KIF21B | - | - | - | - | 4 | Gain | - |
KIF26B | - | - | - | - | 4 | Gain | - |
KIF3C | - | - | - | - | 1 | Loss | - |
KIFAP3 | - | - | - | - | 4 | Gain | - |
KIRREL1 | - | - | - | - | 4 | Gain | - |
KISS1 | - | - | - | - | 4 | Gain | - |
KLF14 | - | - | - | - | 1 | Loss | - |
KLHDC10 | - | - | - | - | 1 | Loss | - |
KLHDC8A | - | - | - | - | 4 | Gain | - |
KLHDC9 | - | - | - | - | 4 | Gain | - |
KLHL10 | - | - | - | - | 3 | Gain | - |
KLHL11 | - | - | - | - | 3 | Gain | - |
KLHL12 | - | - | - | - | 4 | Gain | - |
KLHL20 | - | - | - | - | 4 | Gain | - |
KLHL6 | p.V615M | Missense | SNP | 0.453 | 2 | - | - |
KLHL7 | - | - | - | - | 3 | Gain | - |
KLRG2 | - | - | - | - | 1 | Loss | - |
KMO | - | - | - | - | 4 | Gain | - |
KMT2C | - | - | - | - | 1 | Loss | - |
KMT2D | p.Q827Nfs*103 | Frame_Shift_Del | DEL | 0.528 | 2 | - | - |
KMT2E | - | - | - | - | 1 | Loss | - |
KNOP1 | p.G320Afs*8 | Frame_Shift_Del | DEL | 0.467 | 2 | - | - |
KPNA3 | - | - | - | - | 1 | Loss | - |
KPNA7 | - | - | - | - | 1 | Loss | - |
KPRP | - | - | - | - | 4 | Gain | - |
KRAS | p.G12V | Missense | SNP | 0.525 | 2 | - | - |
KRBA1 | - | - | - | - | 1 | Loss | - |
KRBA2 | - | - | - | - | 1 | Loss | - |
KRCC1 | p.S183Afs*7 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
KRIT1 | - | - | - | - | 1 | Loss | - |
KRT10 | - | - | - | - | 3 | Gain | - |
KRT12 | - | - | - | - | 3 | Gain | - |
KRT13 | - | - | - | - | 3 | Gain | - |
KRT14 | - | - | - | - | 3 | Gain | - |
KRT15 | - | - | - | - | 3 | Gain | - |
KRT16 | - | - | - | - | 3 | Gain | - |
KRT17 | - | - | - | - | 3 | Gain | - |
KRT19 | - | - | - | - | 3 | Gain | - |
KRT20 | - | - | - | - | 3 | Gain | - |
KRT222 | - | - | - | - | 3 | Gain | - |
KRT23 | - | - | - | - | 3 | Gain | - |
KRT24 | - | - | - | - | 3 | Gain | - |
KRT25 | - | - | - | - | 3 | Gain | - |
KRT26 | - | - | - | - | 3 | Gain | - |
KRT27 | - | - | - | - | 3 | Gain | - |
KRT28 | - | - | - | - | 3 | Gain | - |
KRT31 | - | - | - | - | 3 | Gain | - |
KRT32 | - | - | - | - | 3 | Gain | - |
KRT33A | - | - | - | - | 3 | Gain | - |
KRT33B | - | - | - | - | 3 | Gain | - |
KRT34 | - | - | - | - | 3 | Gain | - |
KRT35 | - | - | - | - | 3 | Gain | - |
KRT36 | - | - | - | - | 3 | Gain | - |
KRT37 | - | - | - | - | 3 | Gain | - |
KRT38 | - | - | - | - | 3 | Gain | - |
KRT39 | - | - | - | - | 3 | Gain | - |
KRT40 | - | - | - | - | 3 | Gain | - |
KRT80 | p.R144H | Missense | SNP | 0.131 | 2 | - | - |
KRT84 | p.G511R | Missense | SNP | 0.525 | 2 | - | - |
KRT9 | - | - | - | - | 3 | Gain | - |
KRTAP1-1 | - | - | - | - | 3 | Gain | - |
KRTAP1-3 | - | - | - | - | 3 | Gain | - |
KRTAP1-4 | - | - | - | - | 3 | Gain | - |
KRTAP1-5 | - | - | - | - | 3 | Gain | - |
KRTAP16-1 | - | - | - | - | 3 | Gain | - |
KRTAP17-1 | - | - | - | - | 3 | Gain | - |
KRTAP2-2 | - | - | - | - | 3 | Gain | - |
KRTAP29-1 | - | - | - | - | 3 | Gain | - |
KRTAP3-1 | - | - | - | - | 3 | Gain | - |
KRTAP3-2 | - | - | - | - | 3 | Gain | - |
KRTAP3-3 | - | - | - | - | 3 | Gain | - |
KRTAP4-1 | - | - | - | - | 3 | Gain | - |
KRTAP4-16 | - | - | - | - | 3 | Gain | - |
KRTAP4-3 | - | - | - | - | 3 | Gain | - |
KRTAP4-7 | - | - | - | - | 3 | Gain | - |
KRTAP4-8 | - | - | - | - | 3 | Gain | - |
KRTAP9-1 | - | - | - | - | 3 | Gain | - |
KRTAP9-6 | - | - | - | - | 3 | Gain | - |
KRTAP9-7 | - | - | - | - | 3 | Gain | - |
KRTAP9-9 | - | - | - | - | 3 | Gain | - |
KRTCAP2 | - | - | - | - | 4 | Gain | - |
KRTCAP3 | - | - | - | - | 1 | Loss | - |
KSR1 | - | - | - | - | 3 | Gain | - |
LACC1 | - | - | - | - | 1 | Loss | - |
LAD1 | - | - | - | - | 4 | Gain | - |
LAMB1 | p.R1161H | Missense | SNP | 1.000 | 1 | Loss | - |
LAMB2 | p.R644C | Missense | SNP | 0.540 | 2 | - | - |
LAMB3 | - | - | - | - | 4 | Gain | - |
LAMB4 | - | - | - | - | 1 | Loss | - |
LAMC1 | - | - | - | - | 4 | Gain | - |
LAMC2 | - | - | - | - | 4 | Gain | - |
LAMC3 | p.X227_splice | Splice_Site | SNP | 0.503 | 2 | - | - |
LAMTOR2 | - | - | - | - | 4 | Gain | - |
LAMTOR4 | - | - | - | - | 1 | Loss | - |
LANCL2 | - | - | - | - | 3 | Gain | - |
LAPTM4A | p.Y201H | Missense | SNP | 0.449 | 2 | - | - |
LARP4B | p.T163Hfs*47 | Frame_Shift_Del | DEL | 0.486 | 2 | - | - |
LASP1 | - | - | - | - | 3 | Gain | - |
LAT2 | - | - | - | - | 1 | Loss | - |
LAX1 | - | - | - | - | 4 | Gain | - |
LBH | - | - | - | - | 1 | Loss | - |
LBR | - | - | - | - | 4 | Gain | - |
LCE1A | - | - | - | - | 4 | Gain | - |
LCE1B | - | - | - | - | 4 | Gain | - |
LCE1C | p.R82C | Missense | SNP | 0.766 | 4 | Gain | - |
LCE1D | - | - | - | - | 4 | Gain | - |
LCE1E | - | - | - | - | 4 | Gain | - |
LCE1F | - | - | - | - | 4 | Gain | - |
LCE2A | - | - | - | - | 4 | Gain | - |
LCE2B | - | - | - | - | 4 | Gain | - |
LCE2C | - | - | - | - | 4 | Gain | - |
LCE2D | - | - | - | - | 4 | Gain | - |
LCE3A | - | - | - | - | 4 | Gain | - |
LCE3B | - | - | - | - | 4 | Gain | - |
LCE3C | - | - | - | - | 4 | Gain | - |
LCE3D | - | - | - | - | 4 | Gain | - |
LCE3E | - | - | - | - | 4 | Gain | - |
LCE4A | - | - | - | - | 4 | Gain | - |
LCE5A | - | - | - | - | 4 | Gain | - |
LCE6A | - | - | - | - | 4 | Gain | - |
LCLAT1 | - | - | - | - | 1 | Loss | - |
LCP1 | - | - | - | - | 1 | Loss | - |
LCP2 | p.T454Qfs*73 | Frame_Shift_Del | DEL | 0.451 | 2 | - | - |
LEFTY1 | - | - | - | - | 4 | Gain | - |
LEFTY2 | - | - | - | - | 4 | Gain | - |
LELP1 | - | - | - | - | 4 | Gain | - |
LEMD1 | - | - | - | - | 4 | Gain | - |
LENEP | - | - | - | - | 4 | Gain | - |
LEP | - | - | - | - | 1 | Loss | - |
LFNG | - | - | - | - | 3 | Gain | - |
LGALS2 | p.K131del | In_Frame_Del | DEL | 0.452 | 2 | - | - |
LGALS8 | - | - | - | - | 4 | Gain | - |
LGALS9 | - | - | - | - | 3 | Gain | - |
LGALS9B | - | - | - | - | 1 | Loss | - |
LGALS9C | - | - | - | - | 1 | Loss | - |
LGR6 | - | - | - | - | 4 | Gain | - |
LHCGR | - | - | - | - | 1 | Loss | - |
LHFPL3 | - | - | - | - | 1 | Loss | - |
LHX1 | - | - | - | - | 3 | Gain | - |
LHX4 | - | - | - | - | 4 | Gain | - |
LHX9 | - | - | - | - | 4 | Gain | - |
LIG3 | - | - | - | - | 3 | Gain | - |
LILRB4 | p.A357V | Missense | SNP | 0.561 | 2 | - | - |
LIMK1 | - | - | - | - | 1 | Loss | - |
LIN9 | - | - | - | - | 4 | Gain | - |
LINGO4 | - | - | - | - | 4 | Gain | - |
LIPC | p.R138C | Missense | SNP | 0.492 | 2 | - | - |
LIX1L | - | - | - | - | 3 | Gain | - |
LLCFC1 | - | - | - | - | 1 | Loss | - |
LLGL1 | - | - | - | - | 1 | Loss | - |
LMBR1 | - | - | - | - | 1 | Loss | - |
LMF1 | - | - | - | - | 3 | Gain | - |
LMNA | - | - | - | - | 4 | Gain | - |
LMOD1 | - | - | - | - | 4 | Gain | - |
LMOD2 | - | - | - | - | 1 | Loss | - |
LMTK2 | - | - | - | - | 1 | Loss | - |
LMTK3 | p.K1228Sfs*117 | Frame_Shift_Del | DEL | 0.081 | 2 | - | - |
LMX1A | - | - | - | - | 4 | Gain | - |
LNPEP | p.I501Yfs*12 | Frame_Shift_Del | DEL | 0.382 | 2 | - | - |
LOR | - | - | - | - | 4 | Gain | - |
LPAR6 | - | - | - | - | 1 | Loss | - |
LPGAT1 | - | - | - | - | 4 | Gain | - |
LRCH1 | - | - | - | - | 1 | Loss | - |
LRCH4 | - | - | - | - | 1 | Loss | - |
LRGUK | - | - | - | - | 1 | Loss | - |
LRPPRC | - | - | - | - | 1 | Loss | - |
LRRC16A | p.T645Qfs*13 | Frame_Shift_Del | DEL | 0.375 | ND | ND | - |
LRRC17 | - | - | - | - | 1 | Loss | - |
LRRC37B | - | - | - | - | 3 | Gain | - |
LRRC3C | - | - | - | - | 3 | Gain | - |
LRRC4 | - | - | - | - | 1 | Loss | - |
LRRC41 | p.R401C | Missense | SNP | 0.324 | 2 | - | - |
LRRC52 | - | - | - | - | 4 | Gain | - |
LRRC61 | - | - | - | - | 1 | Loss | - |
LRRC63 | - | - | - | - | 1 | Loss | - |
LRRC71 | - | - | - | - | 4 | Gain | - |
LRRC72 | - | - | - | - | 3 | Gain | - |
LRRC75A | - | - | - | - | 1 | Loss | - |
LRRD1 | - | - | - | - | 1 | Loss | - |
LRRN2 | p.R372C | Missense | SNP | 0.221 | 4 | Gain | - |
LRRN3 | - | - | - | - | 1 | Loss | - |
LRWD1 | - | - | - | - | 1 | Loss | - |
LSM5 | - | - | - | - | 3 | Gain | - |
LSM8 | - | - | - | - | 1 | Loss | - |
LSMEM1 | - | - | - | - | 1 | Loss | - |
LTBP1 | - | - | - | - | 1 | Loss | - |
LUC7L | - | - | - | - | 3 | Gain | - |
LUC7L2 | - | - | - | - | 1 | Loss | - |
LUZP6 | - | - | - | - | 1 | Loss | - |
LY9 | - | - | - | - | 4 | Gain | - |
LYPD8 | - | - | - | - | 4 | Gain | - |
LYPLAL1 | - | - | - | - | 4 | Gain | - |
LYRM9 | - | - | - | - | 3 | Gain | - |
LYSMD1 | - | - | - | - | 4 | Gain | - |
LYST | - | - | - | - | 4 | Gain | - |
LYZL6 | - | - | - | - | 3 | Gain | - |
MACC1 | - | - | - | - | 3 | Gain | - |
MAD1L1 | - | - | - | - | 3 | Gain | - |
MAEL | - | - | - | - | 4 | Gain | - |
MAFA | p.A3V | Missense | SNP | 0.315 | 2 | - | - |
MAFK | - | - | - | - | 3 | Gain | - |
MAGEC2 | p.P290S p.I172N | Missense Missense | SNP SNP | 1.000 1.000 | ND | ND | - |
MAGI2 | - | - | - | - | 1 | Loss | - |
MAGT1 | p.T283M | Missense | SNP | 1.000 | ND | ND | - |
MALSU1 | - | - | - | - | 3 | Gain | - |
MAP10 | - | - | - | - | 4 | Gain | - |
MAP1LC3C | - | - | - | - | 4 | Gain | - |
MAP2K3 | - | - | - | - | 1 | Loss | - |
MAP2K4 | - | - | - | - | 1 | Loss | - |
MAP3K21 | - | - | - | - | 4 | Gain | - |
MAP4K3 | - | - | - | - | 1 | Loss | - |
MAPK7 | - | - | - | - | 1 | Loss | - |
MAPK8IP3 | - | - | - | - | 3 | Gain | - |
MAPKAPK2 | - | - | - | - | 4 | Gain | - |
MAPRE3 | - | - | - | - | 1 | Loss | - |
MARC1 | - | - | - | - | 4 | Gain | - |
MARC2 | - | - | - | - | 4 | Gain | - |
MARCH11 | p.W273* | Nonsense | SNP | 0.463 | 2 | - | - |
MARK1 | - | - | - | - | 4 | Gain | - |
MBLAC1 | - | - | - | - | 1 | Loss | - |
MCCC2 | p.T385Yfs*27 | Frame_Shift_Ins | INS | 0.107 | 2 | - | - |
MCFD2 | - | - | - | - | 1 | Loss | - |
MCL1 | - | - | - | - | 4 | Gain | - |
MCM7 | - | - | - | - | 1 | Loss | - |
MCRIP2 | - | - | - | - | 3 | Gain | - |
MDFIC | - | - | - | - | 1 | Loss | - |
MDH2 | - | - | - | - | 1 | Loss | - |
MDM4 | - | - | - | - | 4 | Gain | - |
MECP2 | p.L336M | Missense | SNP | 1.000 | ND | ND | - |
MED1 | - | - | - | - | 3 | Gain | - |
MED11 | - | - | - | - | 1 | Loss | - |
MED24 | - | - | - | - | 3 | Gain | - |
MED31 | - | - | - | - | 1 | Loss | - |
MED4 | - | - | - | - | 1 | Loss | - |
MED9 | - | - | - | - | 1 | Loss | - |
MEF2D | - | - | - | - | 4 | Gain | - |
MEI4 | p.K232Sfs*18 | Frame_Shift_Del | DEL | 0.471 | 2 | - | - |
MEIOB | - | - | - | - | 3 | Gain | - |
MEIOC | p.R808C | Missense | SNP | 0.548 | 2 | - | - |
MEMO1 | - | - | - | - | 1 | Loss | - |
MEN1 | p.T585M | Missense | SNP | 0.405 | 2 | - | - |
MEOX2 | - | - | - | - | 3 | Gain | - |
MEPCE | - | - | - | - | 1 | Loss | - |
MEST | - | - | - | - | 1 | Loss | - |
MET | - | - | - | - | 1 | Loss | - |
METRN | - | - | - | - | 3 | Gain | - |
METTL11B | - | - | - | - | 4 | Gain | - |
METTL13 | - | - | - | - | 4 | Gain | - |
METTL16 | - | - | - | - | 1 | Loss | - |
METTL18 | - | - | - | - | 4 | Gain | - |
METTL26 | - | - | - | - | 3 | Gain | - |
METTL27 | - | - | - | - | 1 | Loss | - |
METTL2B | - | - | - | - | 1 | Loss | - |
MEX3A | - | - | - | - | 4 | Gain | - |
MEX3D | p.A436V | Missense | SNP | 0.431 | 2 | - | - |
MFAP4 | - | - | - | - | 1 | Loss | - |
MFRP | p.H384Tfs*94 | Frame_Shift_Del | DEL | 0.505 | 2 | - | - |
MFSD14B | p.L277Sfs*13 | Frame_Shift_Ins | INS | 0.270 | 2 | - | - |
MFSD4A | - | - | - | - | 4 | Gain | - |
MFSD6L | - | - | - | - | 1 | Loss | - |
MGAM | - | - | - | - | 1 | Loss | - |
MGST3 | - | - | - | - | 4 | Gain | - |
MIA3 | - | - | - | - | 4 | Gain | - |
MICALL2 | - | - | - | - | 3 | Gain | - |
MIEF2 | - | - | - | - | 1 | Loss | - |
MIEN1 | - | - | - | - | 3 | Gain | - |
MINDY1 | - | - | - | - | 4 | Gain | - |
MINDY4 | - | - | - | - | 3 | Gain | - |
MINK1 | - | - | - | - | 1 | Loss | - |
MIOS | - | - | - | - | 3 | Gain | - |
MIS12 | - | - | - | - | 1 | Loss | - |
MITF | p.R73C | Missense | SNP | 0.524 | 2 | - | - |
MIXL1 | p.R146H | Missense | SNP | 0.304 | 4 | Gain | - |
MKI67 | p.T3223M | Missense | SNP | 0.584 | 2 | - | - |
MKLN1 | - | - | - | - | 1 | Loss | - |
MKRN1 | - | - | - | - | 1 | Loss | - |
MLLT11 | - | - | - | - | 4 | Gain | - |
MLLT6 | - | - | - | - | 3 | Gain | - |
MLNR | - | - | - | - | 1 | Loss | - |
MLPH | p.S117P | Missense | SNP | 0.490 | 2 | - | - |
MLST8 | - | - | - | - | 3 | Gain | - |
MLXIPL | - | - | - | - | 1 | Loss | - |
MMD2 | - | - | - | - | 3 | Gain | - |
MMP10 | p.P266Lfs*36 | Frame_Shift_Del | DEL | 0.385 | 2 | - | - |
MMP28 | - | - | - | - | 3 | Gain | - |
MN1 | p.P45Lfs*8 | Frame_Shift_Del | DEL | 0.430 | 2 | - | - |
MNDA | - | - | - | - | 4 | Gain | - |
MNT | - | - | - | - | 1 | Loss | - |
MNX1 | - | - | - | - | 1 | Loss | - |
MOCOS | . | Frame_Shift_Del | DEL | 0.327 | 2 | - | - |
MOGAT3 | - | - | - | - | 1 | Loss | - |
MORN2 | - | - | - | - | 1 | Loss | - |
MOSPD3 | - | - | - | - | 1 | Loss | - |
MPC2 | - | - | - | - | 4 | Gain | - |
MPDU1 | - | - | - | - | 1 | Loss | - |
MPG | - | - | - | - | 3 | Gain | - |
MPLKIP | - | - | - | - | 3 | Gain | - |
MPP6 | - | - | - | - | 3 | Gain | - |
MPRIP | - | - | - | - | 1 | Loss | - |
MPV17 | - | - | - | - | 1 | Loss | - |
MPZ | - | - | - | - | 4 | Gain | - |
MPZL1 | - | - | - | - | 4 | Gain | - |
MR1 | - | - | - | - | 4 | Gain | - |
MRM1 | - | - | - | - | 3 | Gain | - |
MRM2 | - | - | - | - | 3 | Gain | - |
MRM3 | - | - | - | - | 1 | Loss | - |
MRO | p.F184Ifs*7 | Frame_Shift_Ins | INS | 0.315 | 2 | - | - |
MROH9 | - | - | - | - | 4 | Gain | - |
MRPL24 | - | - | - | - | 4 | Gain | - |
MRPL28 | - | - | - | - | 3 | Gain | - |
MRPL32 | - | - | - | - | 3 | Gain | - |
MRPL33 | - | - | - | - | 1 | Loss | - |
MRPL38 | p.R346W | Missense | SNP | 0.556 | 2 | - | - |
MRPL45 | - | - | - | - | 3 | Gain | - |
MRPL55 | - | - | - | - | 4 | Gain | - |
MRPL9 | - | - | - | - | 4 | Gain | - |
MRPS14 | - | - | - | - | 4 | Gain | - |
MRPS17 | - | - | - | - | 3 | Gain | - |
MRPS21 | - | - | - | - | 4 | Gain | - |
MRPS24 | - | - | - | - | 3 | Gain | - |
MRPS31 | - | - | - | - | 1 | Loss | - |
MRPS33 | - | - | - | - | 1 | Loss | - |
MRPS34 | - | - | - | - | 3 | Gain | - |
MRPS5 | p.G113Efs*14 | Frame_Shift_Del | DEL | 0.111 | 2 | - | - |
MSH2 | - | - | - | - | 1 | Loss | - |
MSH6 | - | - | - | - | 1 | Loss | - |
MSL1 | - | - | - | - | 3 | Gain | - |
MSLN | - | - | - | - | 3 | Gain | - |
MSRB1 | - | - | - | - | 3 | Gain | - |
MSTO1 | - | - | - | - | 4 | Gain | - |
MT1HL1 | - | - | - | - | 4 | Gain | - |
MTA3 | - | - | - | - | 1 | Loss | - |
MTERF1 | - | - | - | - | 1 | Loss | - |
MTMR11 | - | - | - | - | 4 | Gain | - |
MTPN | - | - | - | - | 1 | Loss | - |
MTR | - | - | - | - | 4 | Gain | - |
MTRF1 | - | - | - | - | 1 | Loss | - |
MTURN | - | - | - | - | 3 | Gain | - |
MTX1 | - | - | - | - | 4 | Gain | - |
MUC1 | - | - | - | - | 4 | Gain | - |
MUC12 | - | - | - | - | 1 | Loss | - |
MUC17 | - | - | - | - | 1 | Loss | - |
MUC3A | p.P423Lfs*7 | Frame_Shift_Del | DEL | 0.788 | 1 | Loss | - |
MUC5B | p.S2205Afs*29 | Frame_Shift_Del | DEL | 0.392 | 2 | - | - |
MUC6 | p.W5R | Missense | SNP | 0.488 | 2 | - | - |
MYBBP1A | - | - | - | - | 1 | Loss | - |
MYBL1 | p.G466D | Missense | SNP | 0.539 | 2 | - | - |
MYBPH | - | - | - | - | 4 | Gain | - |
MYH1 | - | - | - | - | 1 | Loss | - |
MYH10 | p.R289C | Missense | SNP | 1.000 | 1 | Loss | - |
MYH13 | - | - | - | - | 1 | Loss | - |
MYH14 | p.R1024W p.P2035T | Missense Missense | SNP SNP | 0.545 0.624 | 2 | - | - |
MYH2 | - | - | - | - | 1 | Loss | - |
MYH3 | - | - | - | - | 1 | Loss | - |
MYH4 | - | - | - | - | 1 | Loss | - |
MYH8 | - | - | - | - | 1 | Loss | - |
MYL10 | - | - | - | - | 1 | Loss | - |
MYL7 | - | - | - | - | 3 | Gain | - |
MYO15A | - | - | - | - | 1 | Loss | - |
MYO18A | - | - | - | - | 3 | Gain | - |
MYO19 | - | - | - | - | 3 | Gain | - |
MYO1C | - | - | - | - | 1 | Loss | - |
MYO1D | - | - | - | - | 3 | Gain | - |
MYO1G | - | - | - | - | 3 | Gain | - |
MYO6 | p.I327Lfs*14 | Frame_Shift_Del | DEL | 0.429 | 2 | - | - |
MYO7A | p.H133Tfs*13 p.R1047C | Frame_Shift_Del Missense | DEL SNP | 0.380 0.520 | 2 | - | - |
MYOC | - | - | - | - | 4 | Gain | - |
MYOCD | - | - | - | - | 1 | Loss | - |
MYOCOS | - | - | - | - | 4 | Gain | - |
MYOG | - | - | - | - | 4 | Gain | - |
NAA16 | - | - | - | - | 1 | Loss | - |
NAA38 | - | - | - | - | 1 | Loss | - |
NACAD | - | - | - | - | 3 | Gain | - |
NAMPT | - | - | - | - | 1 | Loss | - |
NAPEPLD | - | - | - | - | 1 | Loss | - |
NARFL | p.R33Gfs*36 | Frame_Shift_Del | DEL | 0.345 | ND | ND | - |
NAT16 | - | - | - | - | 1 | Loss | - |
NATD1 | - | - | - | - | 1 | Loss | - |
NAV1 | - | - | - | - | 4 | Gain | - |
NAXE | - | - | - | - | 4 | Gain | - |
NBEAL2 | p.T422Pfs*50 | Frame_Shift_Del | DEL | 0.510 | 2 | - | - |
NBPF10 | - | - | - | - | 3 | Gain | - |
NBPF11 | - | - | - | - | 5 | Amp | - |
NBPF12 | - | - | - | - | 3 | Gain | - |
NBPF14 | - | - | - | - | 3 | Gain | - |
NBPF15 | - | - | - | - | 3 | Gain | - |
NBPF19 | - | - | - | - | 3 | Gain | - |
NBPF20 | - | - | - | - | 3 | Gain | - |
NBPF9 | - | - | - | - | 3 | Gain | - |
NCAPD3 | p.A322Lfs*24 | Frame_Shift_Del | DEL | 0.263 | 2 | - | - |
NCAPG2 | - | - | - | - | 1 | Loss | - |
NCBP3 | - | - | - | - | 1 | Loss | - |
NCF1 | - | - | - | - | 1 | Loss | - |
NCF2 | - | - | - | - | 4 | Gain | - |
NCL | p.R597W p.A363V | Missense Missense | SNP SNP | 0.455 0.516 | 2 | - | - |
NCOA1 | - | - | - | - | 1 | Loss | - |
NCOR1 | - | - | - | - | 1 | Loss | - |
NCSTN | - | - | - | - | 4 | Gain | - |
NDEL1 | - | - | - | - | 1 | Loss | - |
NDST3 | p.R709* | Nonsense | SNP | 0.554 | 2 | - | - |
NDUFA4 | - | - | - | - | 3 | Gain | - |
NDUFA5 | - | - | - | - | 1 | Loss | - |
NDUFAF7 | - | - | - | - | 1 | Loss | - |
NDUFB10 | - | - | - | - | 3 | Gain | - |
NDUFB2 | - | - | - | - | 1 | Loss | - |
NDUFC2 | p.F69Lfs*7 | Frame_Shift_Del | DEL | 0.360 | 2 | - | - |
NDUFS2 | - | - | - | - | 4 | Gain | - |
NECTIN4 | p.A31V | Missense | SNP | 0.252 | 4 | Gain | - |
NEGR1 | p.A326T | Missense | SNP | 0.397 | 2 | - | - |
NEK2 | - | - | - | - | 4 | Gain | - |
NEK7 | - | - | - | - | 4 | Gain | - |
NEK8 | - | - | - | - | 3 | Gain | - |
NELFCD | p.G264Afs*27 | Frame_Shift_Del | DEL | 0.485 | 2 | - | - |
NENF | - | - | - | - | 4 | Gain | - |
NEO1 | p.V587D | Missense | SNP | 0.517 | 2 | - | - |
NES | - | - | - | - | 4 | Gain | - |
NET1 | p.R69C | Missense | SNP | 0.343 | 2 | - | - |
NEU4 | - | - | - | - | 3 | Gain | - |
NEURL4 | - | - | - | - | 1 | Loss | - |
NEUROD2 | - | - | - | - | 3 | Gain | - |
NEUROD6 | - | - | - | - | 3 | Gain | - |
NF1 | p.V723Wfs*25 p.R2486M | Frame_Shift_Del Missense | DEL SNP | 0.320 0.407 | 3 | Gain | - |
NFASC | - | - | - | - | 4 | Gain | - |
NFATC2 | p.V390L | Missense | SNP | 0.515 | 2 | - | - |
NFE2L3 | - | - | - | - | 3 | Gain | - |
NFKBIB | p.K187N | Missense | SNP | 0.535 | 2 | - | - |
NFKBIL1 | p.R123C | Missense | SNP | 0.545 | 2 | - | - |
NGFR | p.P85Q | Missense | SNP | 0.476 | 2 | - | - |
NHLH1 | - | - | - | - | 4 | Gain | - |
NHLRC4 | - | - | - | - | 3 | Gain | - |
NID1 | - | - | - | - | 4 | Gain | - |
NID2 | p.A1213T | Missense | SNP | 0.491 | 2 | - | - |
NIPSNAP2 | - | - | - | - | 3 | Gain | - |
NIT1 | - | - | - | - | 4 | Gain | - |
NKIRAS2 | - | - | - | - | 3 | Gain | - |
NLE1 | - | - | - | - | 3 | Gain | - |
NLGN2 | - | - | - | - | 1 | Loss | - |
NLK | p.F192Lfs*30 | Frame_Shift_Del | DEL | 0.588 | 3 | Gain | - |
NLN | p.I65V | Missense | SNP | 0.301 | 2 | - | - |
NLRC4 | - | - | - | - | 1 | Loss | - |
NLRP1 | - | - | - | - | 1 | Loss | - |
NLRP3 | - | - | - | - | 4 | Gain | - |
NME3 | - | - | - | - | 3 | Gain | - |
NME4 | - | - | - | - | 3 | Gain | - |
NME7 | - | - | - | - | 4 | Gain | - |
NME8 | - | - | - | - | 3 | Gain | - |
NMNAT2 | - | - | - | - | 4 | Gain | - |
NOBOX | - | - | - | - | 1 | Loss | - |
NOD1 | - | - | - | - | 3 | Gain | - |
NOD2 | p.D529Y | Missense | SNP | 0.430 | 2 | - | - |
NOL4 | p.V91I | Missense | SNP | 0.391 | 2 | - | - |
NOL6 | p.E657D | Missense | SNP | 0.524 | 2 | - | - |
NOM1 | - | - | - | - | 1 | Loss | - |
NOS1AP | - | - | - | - | 4 | Gain | - |
NOS2 | - | - | - | - | 3 | Gain | - |
NOS3 | - | - | - | - | 1 | Loss | - |
NOSIP | p.X59_splice | Splice_Site | SNP | 0.350 | 2 | - | - |
NOTCH1 | p.R2327W | Missense | SNP | 0.485 | 2 | - | - |
NOTCH2NLA | - | - | - | - | 3 | Gain | - |
NOVA2 | p.A232T | Missense | SNP | 0.530 | 2 | - | - |
NOXO1 | - | - | - | - | 3 | Gain | - |
NPAP1 | p.S331T | Missense | SNP | 0.444 | 2 | - | - |
NPAS4 | p.V187M | Missense | SNP | 0.508 | 2 | - | - |
NPC1L1 | - | - | - | - | 3 | Gain | - |
NPHS2 | - | - | - | - | 4 | Gain | - |
NPL | - | - | - | - | 4 | Gain | - |
NPR1 | - | - | - | - | 4 | Gain | - |
NPRL3 | - | - | - | - | 3 | Gain | - |
NPSR1 | - | - | - | - | 3 | Gain | - |
NPTX2 | - | - | - | - | 1 | Loss | - |
NPVF | - | - | - | - | 3 | Gain | - |
NPW | - | - | - | - | 3 | Gain | - |
NPY | - | - | - | - | 3 | Gain | - |
NR1D1 | - | - | - | - | 3 | Gain | - |
NR1I3 | - | - | - | - | 4 | Gain | - |
NR5A2 | - | - | - | - | 4 | Gain | - |
NRBP1 | - | - | - | - | 1 | Loss | - |
NRCAM | - | - | - | - | 1 | Loss | - |
NRF1 | - | - | - | - | 1 | Loss | - |
NRXN1 | - | - | - | - | 1 | Loss | - |
NSL1 | - | - | - | - | 4 | Gain | - |
NSRP1 | - | - | - | - | 3 | Gain | - |
NSUN5 | - | - | - | - | 1 | Loss | - |
NT5C3A | - | - | - | - | 3 | Gain | - |
NT5C3B | p.R55Q | Missense | SNP | 0.367 | 3 | Gain | - |
NT5DC3 | p.P243H | Missense | SNP | 0.455 | 2 | - | - |
NT5E | p.K433del | In_Frame_Del | DEL | 0.432 | 2 | - | - |
NT5M | - | - | - | - | 1 | Loss | - |
NTHL1 | - | - | - | - | 3 | Gain | - |
NTN1 | - | - | - | - | 1 | Loss | - |
NTN3 | - | - | - | - | 3 | Gain | - |
NTPCR | - | - | - | - | 4 | Gain | - |
NTRK1 | - | - | - | - | 4 | Gain | - |
NUAK2 | p.S417L | Missense | SNP | 0.248 | 4 | Gain | - |
NUB1 | - | - | - | - | 1 | Loss | - |
NUBP2 | - | - | - | - | 3 | Gain | - |
NUCKS1 | - | - | - | - | 4 | Gain | - |
NUDCD3 | - | - | - | - | 3 | Gain | - |
NUDT1 | - | - | - | - | 3 | Gain | - |
NUDT15 | - | - | - | - | 1 | Loss | - |
NUDT17 | - | - | - | - | 3 | Gain | - |
NUDT4B | - | - | - | - | 3 | Gain | - |
NUF2 | - | - | - | - | 4 | Gain | - |
NUFIP1 | - | - | - | - | 1 | Loss | - |
NUFIP2 | - | - | - | - | 3 | Gain | - |
NUP133 | - | - | - | - | 4 | Gain | - |
NUP205 | - | - | - | - | 1 | Loss | - |
NUP210L | - | - | - | - | 4 | Gain | - |
NUP214 | p.V228Sfs*29 | Frame_Shift_Del | DEL | 0.529 | 2 | - | - |
NUP88 | - | - | - | - | 1 | Loss | - |
NUPL2 | - | - | - | - | 3 | Gain | - |
NUPR2 | - | - | - | - | 3 | Gain | - |
NVL | - | - | - | - | 4 | Gain | - |
NXN | - | - | - | - | 1 | Loss | - |
NXPH1 | - | - | - | - | 3 | Gain | - |
NYAP1 | - | - | - | - | 1 | Loss | - |
NYNRIN | p.P1154T | Missense | SNP | 0.464 | 2 | - | - |
OAZ3 | - | - | - | - | 4 | Gain | - |
OBSCN | - | - | - | - | 4 | Gain | - |
OBSL1 | p.R1528H | Missense | SNP | 0.536 | 2 | - | - |
OCLM | - | - | - | - | 4 | Gain | - |
OCM | - | - | - | - | 3 | Gain | - |
OCM2 | - | - | - | - | 1 | Loss | - |
ODF4 | - | - | - | - | 1 | Loss | - |
ODR4 | - | - | - | - | 4 | Gain | - |
OGDH | - | - | - | - | 3 | Gain | - |
OLFM4 | p.A291V | Missense | SNP | 0.421 | 2 | - | - |
OLFML2B | - | - | - | - | 4 | Gain | - |
OMG | - | - | - | - | 3 | Gain | - |
OPN1SW | - | - | - | - | 1 | Loss | - |
OPN3 | - | - | - | - | 4 | Gain | - |
OPTC | - | - | - | - | 4 | Gain | - |
OR10J1 | - | - | - | - | 4 | Gain | - |
OR10J3 | - | - | - | - | 4 | Gain | - |
OR10J5 | - | - | - | - | 4 | Gain | - |
OR10K1 | - | - | - | - | 4 | Gain | - |
OR10K2 | - | - | - | - | 4 | Gain | - |
OR10R2 | - | - | - | - | 4 | Gain | - |
OR10T2 | - | - | - | - | 4 | Gain | - |
OR10X1 | - | - | - | - | 4 | Gain | - |
OR10Z1 | - | - | - | - | 4 | Gain | - |
OR11L1 | - | - | - | - | 4 | Gain | - |
OR13G1 | - | - | - | - | 4 | Gain | - |
OR14A16 | - | - | - | - | 4 | Gain | - |
OR14C36 | - | - | - | - | 4 | Gain | - |
OR1A1 | - | - | - | - | 1 | Loss | - |
OR1A2 | - | - | - | - | 1 | Loss | - |
OR1C1 | - | - | - | - | 4 | Gain | - |
OR1D2 | - | - | - | - | 1 | Loss | - |
OR1D5 | - | - | - | - | 1 | Loss | - |
OR1E1 | - | - | - | - | 1 | Loss | - |
OR1E2 | - | - | - | - | 1 | Loss | - |
OR1G1 | - | - | - | - | 1 | Loss | - |
OR2A1 | - | - | - | - | 1 | Loss | - |
OR2A12 | - | - | - | - | 1 | Loss | - |
OR2A14 | - | - | - | - | 1 | Loss | - |
OR2A2 | - | - | - | - | 1 | Loss | - |
OR2A25 | - | - | - | - | 1 | Loss | - |
OR2A42 | - | - | - | - | 1 | Loss | - |
OR2A5 | - | - | - | - | 1 | Loss | - |
OR2A7 | - | - | - | - | 1 | Loss | - |
OR2AE1 | - | - | - | - | 1 | Loss | - |
OR2AG2 | p.L68Hfs*41 | Frame_Shift_Del | DEL | 0.491 | 2 | - | - |
OR2AK2 | - | - | - | - | 4 | Gain | - |
OR2B11 | - | - | - | - | 4 | Gain | - |
OR2C3 | - | - | - | - | 4 | Gain | - |
OR2F1 | - | - | - | - | 1 | Loss | - |
OR2F2 | - | - | - | - | 1 | Loss | - |
OR2G2 | - | - | - | - | 4 | Gain | - |
OR2G3 | - | - | - | - | 4 | Gain | - |
OR2G6 | - | - | - | - | 4 | Gain | - |
OR2L13 | - | - | - | - | 4 | Gain | - |
OR2L2 | - | - | - | - | 4 | Gain | - |
OR2L3 | - | - | - | - | 4 | Gain | - |
OR2L5 | - | - | - | - | 4 | Gain | - |
OR2L8 | - | - | - | - | 4 | Gain | - |
OR2M2 | - | - | - | - | 4 | Gain | - |
OR2M3 | - | - | - | - | 4 | Gain | - |
OR2M4 | - | - | - | - | 4 | Gain | - |
OR2M5 | - | - | - | - | 4 | Gain | - |
OR2M7 | - | - | - | - | 4 | Gain | - |
OR2T1 | - | - | - | - | 4 | Gain | - |
OR2T10 | - | - | - | - | 4 | Gain | - |
OR2T11 | - | - | - | - | 4 | Gain | - |
OR2T12 | - | - | - | - | 4 | Gain | - |
OR2T2 | - | - | - | - | 4 | Gain | - |
OR2T27 | - | - | - | - | 4 | Gain | - |
OR2T29 | - | - | - | - | 4 | Gain | - |
OR2T3 | - | - | - | - | 4 | Gain | - |
OR2T33 | - | - | - | - | 4 | Gain | - |
OR2T34 | - | - | - | - | 4 | Gain | - |
OR2T35 | - | - | - | - | 4 | Gain | - |
OR2T4 | - | - | - | - | 4 | Gain | - |
OR2T5 | - | - | - | - | 4 | Gain | - |
OR2T6 | - | - | - | - | 4 | Gain | - |
OR2T8 | - | - | - | - | 4 | Gain | - |
OR2W3 | - | - | - | - | 4 | Gain | - |
OR3A1 | - | - | - | - | 1 | Loss | - |
OR3A2 | - | - | - | - | 1 | Loss | - |
OR3A3 | - | - | - | - | 1 | Loss | - |
OR51V1 | p.V280Wfs*16 | Frame_Shift_Del | DEL | 0.446 | 2 | - | - |
OR6B1 | - | - | - | - | 1 | Loss | - |
OR6F1 | - | - | - | - | 4 | Gain | - |
OR6K2 | - | - | - | - | 4 | Gain | - |
OR6K3 | - | - | - | - | 4 | Gain | - |
OR6K6 | - | - | - | - | 4 | Gain | - |
OR6N1 | - | - | - | - | 4 | Gain | - |
OR6N2 | - | - | - | - | 4 | Gain | - |
OR6P1 | p.F32Lfs*6 | Frame_Shift_Del | DEL | 0.235 | 4 | Gain | - |
OR6V1 | - | - | - | - | 1 | Loss | - |
OR6Y1 | - | - | - | - | 4 | Gain | - |
OR8B4 | p.V214I | Missense | SNP | 0.142 | 2 | - | - |
OR8H1 | p.V104Cfs*7 | Frame_Shift_Ins | INS | 0.268 | 2 | - | - |
OR9A2 | - | - | - | - | 1 | Loss | - |
OR9A4 | - | - | - | - | 1 | Loss | - |
ORAI2 | - | - | - | - | 1 | Loss | - |
ORC5 | - | - | - | - | 1 | Loss | - |
ORMDL3 | - | - | - | - | 3 | Gain | - |
OSBPL3 | - | - | - | - | 3 | Gain | - |
OST4 | - | - | - | - | 1 | Loss | - |
OTOF | - | - | - | - | 1 | Loss | - |
OTUD7B | - | - | - | - | 4 | Gain | - |
OTX1 | p.A325T | Missense | SNP | 0.498 | 2 | - | - |
OVCA2 | - | - | - | - | 1 | Loss | - |
OXER1 | - | - | - | - | 1 | Loss | - |
P2RX1 | - | - | - | - | 1 | Loss | - |
P2RX5 | - | - | - | - | 1 | Loss | - |
P2RX5-TAX1BP3 | - | - | - | - | 1 | Loss | - |
P3H4 | - | - | - | - | 3 | Gain | - |
P4HTM | p.L416Cfs*6 | Frame_Shift_Del | DEL | 0.438 | 2 | - | - |
PAFAH1B1 | - | - | - | - | 1 | Loss | - |
PAPOLB | - | - | - | - | 3 | Gain | - |
PAPPA2 | - | - | - | - | 4 | Gain | - |
PAQR6 | - | - | - | - | 4 | Gain | - |
PARP1 | - | - | - | - | 4 | Gain | - |
PARP12 | - | - | - | - | 1 | Loss | - |
PAX4 | - | - | - | - | 1 | Loss | - |
PAX6 | p.P389Hfs*7 | Frame_Shift_Del | DEL | 0.480 | 2 | - | - |
PAXIP1 | - | - | - | - | 1 | Loss | - |
PBX1 | - | - | - | - | 4 | Gain | - |
PBXIP1 | - | - | - | - | 4 | Gain | - |
PCARE | - | - | - | - | 1 | Loss | - |
PCDHA10 | - | - | - | - | 3 | Gain | - |
PCDHA11 | - | - | - | - | 3 | Gain | - |
PCDHA12 | p.L95M | Missense | SNP | 0.478 | 3 | Gain | - |
PCDHA13 | - | - | - | - | 3 | Gain | - |
PCDHA2 | - | - | - | - | 3 | Gain | - |
PCDHA3 | p.R538C | Missense | SNP | 0.477 | 3 | Gain | - |
PCDHA4 | - | - | - | - | 3 | Gain | - |
PCDHA5 | - | - | - | - | 3 | Gain | - |
PCDHA6 | - | - | - | - | 3 | Gain | - |
PCDHA7 | - | - | - | - | 3 | Gain | - |
PCDHA8 | - | - | - | - | 3 | Gain | - |
PCDHA9 | p.I142T | Missense | SNP | 0.417 | 3 | Gain | - |
PCDHB11 | p.A533T | Missense | SNP | 0.421 | 2 | - | - |
PCDHB7 | p.A484T | Missense | SNP | 0.503 | 2 | - | - |
PCDHGA10 | p.Q34* | Nonsense | SNP | 0.500 | 2 | - | - |
PCDHGA12 | p.R717W | Missense | SNP | 0.495 | 2 | - | - |
PCDHGA3 | p.T735M | Missense | SNP | 0.475 | 2 | - | - |
PCED1A | p.A183V | Missense | SNP | 0.173 | 2 | - | - |
PCGF2 | - | - | - | - | 3 | Gain | - |
PCLO | - | - | - | - | 1 | Loss | - |
PCM1 | p.K787Nfs*31 | Frame_Shift_Del | DEL | 0.522 | 2 | - | - |
PCNX2 | - | - | - | - | 4 | Gain | - |
PCOLCE | - | - | - | - | 1 | Loss | - |
PCP4L1 | - | - | - | - | 4 | Gain | - |
PDAP1 | - | - | - | - | 1 | Loss | - |
PDC | - | - | - | - | 4 | Gain | - |
PDCD1 | - | - | - | - | 3 | Gain | - |
PDE1C | - | - | - | - | 3 | Gain | - |
PDE4DIP | - | - | - | - | 3 | Gain | - |
PDE6C | p.P501T | Missense | SNP | 0.500 | 2 | - | - |
PDGFA | - | - | - | - | 3 | Gain | - |
PDIA2 | - | - | - | - | 3 | Gain | - |
PDIA4 | - | - | - | - | 1 | Loss | - |
PDK4 | - | - | - | - | 1 | Loss | - |
PDZD8 | p.I1116* | Frame_Shift_Del | DEL | 0.164 | 2 | - | - |
PDZK1 | - | - | - | - | 3 | Gain | - |
PDZRN3 | p.T212A | Missense | SNP | 0.460 | 2 | - | - |
PEA15 | - | - | - | - | 4 | Gain | - |
PEAR1 | - | - | - | - | 4 | Gain | - |
PEG10 | - | - | - | - | 1 | Loss | - |
PELP1 | - | - | - | - | 1 | Loss | - |
PEMT | - | - | - | - | 1 | Loss | - |
PENK | p.P90L | Missense | SNP | 0.480 | 2 | - | - |
PER1 | - | - | - | - | 1 | Loss | - |
PEX1 | - | - | - | - | 1 | Loss | - |
PEX11B | - | - | - | - | 3 | Gain | - |
PEX12 | - | - | - | - | 3 | Gain | - |
PEX19 | - | - | - | - | 4 | Gain | - |
PFAS | - | - | - | - | 1 | Loss | - |
PFDN2 | - | - | - | - | 4 | Gain | - |
PFKFB2 | - | - | - | - | 4 | Gain | - |
PFN1 | - | - | - | - | 1 | Loss | - |
PGAM2 | - | - | - | - | 3 | Gain | - |
PGAP2 | p.A258V | Missense | SNP | 0.457 | 2 | - | - |
PGAP3 | - | - | - | - | 3 | Gain | - |
PGBD2 | - | - | - | - | 4 | Gain | - |
PGBD5 | - | - | - | - | 4 | Gain | - |
PGLYRP3 | - | - | - | - | 4 | Gain | - |
PGLYRP4 | - | - | - | - | 4 | Gain | - |
PGP | - | - | - | - | 3 | Gain | - |
PHF11 | - | - | - | - | 1 | Loss | - |
PHF12 | - | - | - | - | 3 | Gain | - |
PHF14 | - | - | - | - | 3 | Gain | - |
PHF23 | - | - | - | - | 1 | Loss | - |
PHKG1 | - | - | - | - | 3 | Gain | - |
PHLDA3 | - | - | - | - | 4 | Gain | - |
PHTF2 | - | - | - | - | 1 | Loss | - |
PI4K2B | p.S479Pfs*40 | Frame_Shift_Del | DEL | 0.380 | 2 | - | - |
PI4KB | - | - | - | - | 4 | Gain | - |
PIAS3 | - | - | - | - | 3 | Gain | - |
PIGC | - | - | - | - | 4 | Gain | - |
PIGF | - | - | - | - | 1 | Loss | - |
PIGL | - | - | - | - | 1 | Loss | - |
PIGM | - | - | - | - | 4 | Gain | - |
PIGQ | - | - | - | - | 3 | Gain | - |
PIGR | - | - | - | - | 4 | Gain | - |
PIGS | - | - | - | - | 3 | Gain | - |
PIGT | p.V538M | Missense | SNP | 0.466 | 2 | - | - |
PIGW | - | - | - | - | 3 | Gain | - |
PIK3C2B | - | - | - | - | 4 | Gain | - |
PIK3CG | - | - | - | - | 1 | Loss | - |
PIK3R5 | - | - | - | - | 1 | Loss | - |
PIK3R6 | - | - | - | - | 1 | Loss | - |
PILRA | - | - | - | - | 1 | Loss | - |
PILRB | - | - | - | - | 1 | Loss | - |
PIM2 | p.R55Q | Missense | SNP | 0.170 | ND | ND | - |
PIMREG | - | - | - | - | 1 | Loss | - |
PINK1 | p.G189R | Missense | SNP | 0.056 | 2 | - | - |
PIP | - | - | - | - | 1 | Loss | - |
PIP4K2B | - | - | - | - | 3 | Gain | - |
PIP4K2C | p.R204H | Missense | SNP | 0.493 | 2 | - | - |
PIP5K1A | - | - | - | - | 4 | Gain | - |
PIPOX | - | - | - | - | 3 | Gain | - |
PIRT | - | - | - | - | 1 | Loss | - |
PITPNA | - | - | - | - | 1 | Loss | - |
PITPNM3 | - | - | - | - | 1 | Loss | - |
PKD1 | p.Q3436* | Nonsense | SNP | 0.296 | 3 | Gain | - |
PKD1L1 | - | - | - | - | 3 | Gain | - |
PKD1L2 | p.P140T | Missense | SNP | 0.509 | 2 | - | - |
PKDCC | - | - | - | - | 1 | Loss | - |
PKHD1 | p.V155A | Missense | SNP | 0.458 | 2 | - | - |
PKIB | p.T10A | Missense | SNP | 0.472 | 2 | - | - |
PKLR | - | - | - | - | 4 | Gain | - |
PKNOX1 | - | - | - | - | 1 | Loss | - |
PKP1 | - | - | - | - | 4 | Gain | - |
PLA2G4A | - | - | - | - | 4 | Gain | - |
PLA2G6 | p.X266_splice | Splice_Site | SNP | 0.528 | 2 | - | - |
PLAGL1 | p.N79Kfs*16 | Frame_Shift_Ins | INS | 0.320 | 2 | - | - |
PLB1 | - | - | - | - | 1 | Loss | - |
PLCB3 | p.R79H | Missense | SNP | 0.549 | 2 | - | - |
PLCH1 | p.Q1075H | Missense | SNP | 0.179 | 2 | - | - |
PLD2 | - | - | - | - | 1 | Loss | - |
PLD5 | - | - | - | - | 4 | Gain | - |
PLD6 | - | - | - | - | 1 | Loss | - |
PLEKHA6 | - | - | - | - | 4 | Gain | - |
PLEKHA8 | - | - | - | - | 3 | Gain | - |
PLEKHG6 | p.R120W | Missense | SNP | 0.512 | 2 | - | - |
PLEKHH2 | - | - | - | - | 1 | Loss | - |
PLEKHO1 | p.R341Q | Missense | SNP | 0.727 | 4 | Gain | - |
PLOD3 | - | - | - | - | 1 | Loss | - |
PLSCR3 | - | - | - | - | 1 | Loss | - |
PLXDC1 | - | - | - | - | 3 | Gain | - |
PLXNA2 | - | - | - | - | 4 | Gain | - |
PLXNA4 | - | - | - | - | 1 | Loss | - |
PLXNC1 | p.R850Q | Missense | SNP | 0.426 | 2 | - | - |
PM20D1 | p.P354Qfs*21 | Frame_Shift_Del | DEL | 0.238 | 4 | Gain | - |
PMF1 | - | - | - | - | 4 | Gain | - |
PMF1-BGLAP | - | - | - | - | 4 | Gain | - |
PMP22 | - | - | - | - | 1 | Loss | - |
PMPCB | - | - | - | - | 1 | Loss | - |
PMS2 | - | - | - | - | 3 | Gain | - |
PMVK | - | - | - | - | 4 | Gain | - |
PNMT | - | - | - | - | 3 | Gain | - |
PNPLA1 | p.A231T | Missense | SNP | 0.461 | 2 | - | - |
PNPLA6 | p.R325Q | Missense | SNP | 0.443 | 2 | - | - |
PNPLA8 | - | - | - | - | 1 | Loss | - |
PODXL | - | - | - | - | 1 | Loss | - |
POGK | - | - | - | - | 4 | Gain | - |
POGZ | - | - | - | - | 4 | Gain | - |
POLD2 | - | - | - | - | 3 | Gain | - |
POLDIP2 | - | - | - | - | 3 | Gain | - |
POLM | - | - | - | - | 3 | Gain | - |
POLQ | p.F720Sfs*7 | Frame_Shift_Del | DEL | 0.556 | 2 | - | - |
POLR2A | - | - | - | - | 1 | Loss | - |
POLR2J | - | - | - | - | 1 | Loss | - |
POLR2J2 | - | - | - | - | 1 | Loss | - |
POLR2J3 | - | - | - | - | 1 | Loss | - |
POLR3C | - | - | - | - | 3 | Gain | - |
POLR3GL | - | - | - | - | 3 | Gain | - |
POLR3K | - | - | - | - | 3 | Gain | - |
POM121 | - | - | - | - | 1 | Loss | - |
POM121C | - | - | - | - | 1 | Loss | - |
POM121L12 | - | - | - | - | 3 | Gain | - |
POMC | - | - | - | - | 1 | Loss | - |
POMZP3 | - | - | - | - | 1 | Loss | - |
PON1 | - | - | - | - | 1 | Loss | - |
PON2 | - | - | - | - | 1 | Loss | - |
PON3 | - | - | - | - | 1 | Loss | - |
POP7 | - | - | - | - | 1 | Loss | - |
POR | - | - | - | - | 1 | Loss | - |
POT1 | - | - | - | - | 1 | Loss | - |
POTEB3 | p.Q286R | Missense | SNP | 0.206 | 2 | - | - |
POTEF | p.L253S | Missense | SNP | 0.545 | 2 | - | - |
POTEJ | p.T729_L730del | In_Frame_Del | DEL | 0.435 | 2 | - | - |
POU2F1 | - | - | - | - | 4 | Gain | - |
POU4F1 | p.A131V | Missense | SNP | 0.526 | 2 | - | - |
POU6F2 | - | - | - | - | 3 | Gain | - |
PP2D1 | p.A260T | Missense | SNP | 0.549 | 2 | - | - |
PPFIA4 | - | - | - | - | 4 | Gain | - |
PPIA | - | - | - | - | 3 | Gain | - |
PPM1B | - | - | - | - | 1 | Loss | - |
PPM1D | p.L498I | Missense | SNP | 0.421 | 2 | - | - |
PPM1G | - | - | - | - | 1 | Loss | - |
PPOX | - | - | - | - | 4 | Gain | - |
PPP1CB | - | - | - | - | 1 | Loss | - |
PPP1R12B | p.L92S | Missense | SNP | 0.695 | 4 | Gain | - |
PPP1R15B | - | - | - | - | 4 | Gain | - |
PPP1R16B | p.A366V | Missense | SNP | 0.487 | 2 | - | - |
PPP1R17 | - | - | - | - | 3 | Gain | - |
PPP1R1B | - | - | - | - | 3 | Gain | - |
PPP1R21 | - | - | - | - | 1 | Loss | - |
PPP1R35 | - | - | - | - | 1 | Loss | - |
PPP1R3A | - | - | - | - | 1 | Loss | - |
PPP1R9A | - | - | - | - | 1 | Loss | - |
PPP2R5A | - | - | - | - | 4 | Gain | - |
PPP6R2 | p.P596L | Missense | SNP | 0.495 | 2 | - | - |
PRCC | - | - | - | - | 4 | Gain | - |
PRDM13 | p.A181T | Missense | SNP | 0.460 | 2 | - | - |
PRDX6 | - | - | - | - | 4 | Gain | - |
PREB | - | - | - | - | 1 | Loss | - |
PRELP | - | - | - | - | 4 | Gain | - |
PREPL | - | - | - | - | 1 | Loss | - |
PRG4 | - | - | - | - | 4 | Gain | - |
PRICKLE2 | p.W215* | Nonsense | SNP | 0.537 | 2 | - | - |
PRIMA1 | p.H34Y | Missense | SNP | 0.564 | 2 | - | - |
PRKAB2 | - | - | - | - | 5 | Amp | - |
PRKAG2 | - | - | - | - | 1 | Loss | - |
PRKAG3 | p.L258Wfs*112 | Frame_Shift_Del | DEL | 0.476 | 2 | - | - |
PRKAR1B | - | - | - | - | 3 | Gain | - |
PRKAR2B | - | - | - | - | 1 | Loss | - |
PRKCD | p.D434Gfs*13 | Frame_Shift_Ins | INS | 0.319 | 2 | - | - |
PRKCE | - | - | - | - | 1 | Loss | - |
PRKD3 | - | - | - | - | 1 | Loss | - |
PRKDC | p.R2704Gfs*13 | Frame_Shift_Del | DEL | 0.605 | 2 | - | - |
PRKRIP1 | - | - | - | - | 1 | Loss | - |
PROCA1 | - | - | - | - | 3 | Gain | - |
PROX1 | - | - | - | - | 4 | Gain | - |
PRPF3 | - | - | - | - | 4 | Gain | - |
PRPF8 | - | - | - | - | 1 | Loss | - |
PRPS1L1 | - | - | - | - | 3 | Gain | - |
PRPSAP2 | - | - | - | - | 1 | Loss | - |
PRR12 | p.Q800Sfs*100 | Frame_Shift_Del | DEL | 0.416 | 2 | - | - |
PRR14L | p.P1004S | Missense | SNP | 0.526 | 2 | - | - |
PRR15 | - | - | - | - | 3 | Gain | - |
PRR19 | p.G75Vfs*7 | Frame_Shift_Del | DEL | 0.511 | 2 | - | - |
PRR23D1 | - | - | - | - | 1 | Loss | - |
PRR30 | - | - | - | - | 1 | Loss | - |
PRR35 | - | - | - | - | 3 | Gain | - |
PRR9 | - | - | - | - | 4 | Gain | - |
PRRC2A | p.S2020Afs*36 p.Q694H | Frame_Shift_Del Missense | DEL SNP | 0.440 0.520 | 2 | - | - |
PRRC2C | - | - | - | - | 4 | Gain | - |
PRRT4 | - | - | - | - | 1 | Loss | - |
PRRX1 | p.R95Q | Missense | SNP | 0.207 | 4 | Gain | - |
PRSS1 | - | - | - | - | 1 | Loss | - |
PRSS2 | - | - | - | - | 1 | Loss | - |
PRSS37 | - | - | - | - | 1 | Loss | - |
PRSS38 | - | - | - | - | 4 | Gain | - |
PRSS58 | - | - | - | - | 1 | Loss | - |
PRUNE1 | - | - | - | - | 4 | Gain | - |
PSD3 | p.K957del | In_Frame_Del | DEL | 0.364 | 2 | - | - |
PSD4 | p.R863C | Missense | SNP | 0.447 | 2 | - | - |
PSEN2 | - | - | - | - | 4 | Gain | - |
PSMA2 | - | - | - | - | 3 | Gain | - |
PSMB3 | - | - | - | - | 3 | Gain | - |
PSMB4 | - | - | - | - | 4 | Gain | - |
PSMB6 | - | - | - | - | 1 | Loss | - |
PSMC2 | - | - | - | - | 1 | Loss | - |
PSMD11 | - | - | - | - | 3 | Gain | - |
PSMD3 | - | - | - | - | 3 | Gain | - |
PSMD4 | - | - | - | - | 4 | Gain | - |
PSMG3 | - | - | - | - | 3 | Gain | - |
PSPH | - | - | - | - | 3 | Gain | - |
PTCD1 | - | - | - | - | 1 | Loss | - |
PTGS2 | - | - | - | - | 4 | Gain | - |
PTN | - | - | - | - | 1 | Loss | - |
PTPN12 | - | - | - | - | 1 | Loss | - |
PTPN14 | - | - | - | - | 4 | Gain | - |
PTPN4 | p.P452L p.V848I | Missense Missense | SNP SNP | 0.387 0.496 | 2 | - | - |
PTPN7 | - | - | - | - | 4 | Gain | - |
PTPRC | - | - | - | - | 4 | Gain | - |
PTPRN2 | - | - | - | - | 1 | Loss | - |
PTPRZ1 | - | - | - | - | 1 | Loss | - |
PTRHD1 | - | - | - | - | 1 | Loss | - |
PTX4 | - | - | - | - | 3 | Gain | - |
PURB | - | - | - | - | 3 | Gain | - |
PUS7 | - | - | - | - | 1 | Loss | - |
PVRIG | - | - | - | - | 1 | Loss | - |
PYCR2 | - | - | - | - | 4 | Gain | - |
PYGO2 | - | - | - | - | 4 | Gain | - |
PYHIN1 | - | - | - | - | 4 | Gain | - |
PYROXD2 | p.R218* | Nonsense | SNP | 0.370 | 2 | - | - |
QPCT | - | - | - | - | 1 | Loss | - |
QSOX1 | - | - | - | - | 4 | Gain | - |
RAB10 | - | - | - | - | 1 | Loss | - |
RAB11FIP3 | p.D602N | Missense | SNP | 0.303 | 3 | Gain | - |
RAB11FIP4 | - | - | - | - | 3 | Gain | - |
RAB13 | - | - | - | - | 4 | Gain | - |
RAB19 | - | - | - | - | 1 | Loss | - |
RAB25 | - | - | - | - | 4 | Gain | - |
RAB26 | - | - | - | - | 3 | Gain | - |
RAB29 | - | - | - | - | 4 | Gain | - |
RAB34 | - | - | - | - | 3 | Gain | - |
RAB3GAP2 | - | - | - | - | 4 | Gain | - |
RAB40C | p.Q271Rfs*58 | Frame_Shift_Del | DEL | 0.254 | 3 | Gain | - |
RAB44 | p.K1011Rfs*19 | Frame_Shift_Del | DEL | 0.531 | 2 | - | - |
RAB4A | - | - | - | - | 4 | Gain | - |
RAB5C | - | - | - | - | 3 | Gain | - |
RABEP1 | - | - | - | - | 1 | Loss | - |
RABGAP1L | - | - | - | - | 4 | Gain | - |
RABGEF1 | - | - | - | - | 1 | Loss | - |
RABIF | - | - | - | - | 4 | Gain | - |
RAC1 | - | - | - | - | 3 | Gain | - |
RAD51D | - | - | - | - | 3 | Gain | - |
RAD51L3-RFFL | - | - | - | - | 3 | Gain | - |
RADIL | p.T31M | Missense | SNP | 0.725 | 3 | Gain | - |
RAI1 | - | - | - | - | 1 | Loss | - |
RALA | - | - | - | - | 3 | Gain | - |
RALGAPA1 | p.N1861Kfs*29 | Frame_Shift_Ins | INS | 0.313 | 2 | - | - |
RALGPS2 | - | - | - | - | 4 | Gain | - |
RAMP3 | - | - | - | - | 3 | Gain | - |
RANGRF | - | - | - | - | 1 | Loss | - |
RAP1GAP2 | - | - | - | - | 1 | Loss | - |
RAPGEF5 | - | - | - | - | 3 | Gain | - |
RAPGEFL1 | - | - | - | - | 3 | Gain | - |
RARA | - | - | - | - | 3 | Gain | - |
RARRES2 | - | - | - | - | 1 | Loss | - |
RASA4 | - | - | - | - | 1 | Loss | - |
RASA4B | - | - | - | - | 1 | Loss | - |
RASAL2 | - | - | - | - | 4 | Gain | - |
RASD1 | - | - | - | - | 1 | Loss | - |
RASGRP3 | - | - | - | - | 1 | Loss | - |
RASL10B | - | - | - | - | 3 | Gain | - |
RASL12 | p.C158Afs*35 | Frame_Shift_Del | DEL | 0.490 | 2 | - | - |
RASSF5 | - | - | - | - | 4 | Gain | - |
RB1 | p.R255* | Nonsense | SNP | 1.000 | 1 | Loss | - |
RBAK | - | - | - | - | 3 | Gain | - |
RBAK-RBAKDN | - | - | - | - | 3 | Gain | - |
RBBP5 | - | - | - | - | 4 | Gain | - |
RBKS | - | - | - | - | 1 | Loss | - |
RBM12B | p.R502C | Missense | SNP | 0.544 | 2 | - | - |
RBM28 | - | - | - | - | 1 | Loss | - |
RBM33 | - | - | - | - | 1 | Loss | - |
RBM34 | - | - | - | - | 4 | Gain | - |
RBM42 | p.P333Qfs*24 | Frame_Shift_Del | DEL | 0.413 | 2 | - | - |
RBM48 | - | - | - | - | 1 | Loss | - |
RBM8A | - | - | - | - | 3 | Gain | - |
RBPJL | p.E115K | Missense | SNP | 0.466 | 2 | - | - |
RC3H1 | - | - | - | - | 4 | Gain | - |
RCBTB1 | - | - | - | - | 1 | Loss | - |
RCBTB2 | - | - | - | - | 1 | Loss | - |
RCC1L | - | - | - | - | 1 | Loss | - |
RCOR2 | p.P505H | Missense | SNP | 0.493 | 2 | - | - |
RCOR3 | - | - | - | - | 4 | Gain | - |
RCSD1 | - | - | - | - | 4 | Gain | - |
RCVRN | - | - | - | - | 1 | Loss | - |
RD3 | - | - | - | - | 4 | Gain | - |
RDM1 | - | - | - | - | 3 | Gain | - |
RDX | p.P471Lfs*35 | Frame_Shift_Del | DEL | 0.438 | 2 | - | - |
RELN | - | - | - | - | 1 | Loss | - |
REN | - | - | - | - | 4 | Gain | - |
RENBP | p.G263C | Missense | SNP | 0.939 | ND | ND | - |
REPIN1 | - | - | - | - | 1 | Loss | - |
RET | p.S904F | Missense | SNP | 0.433 | 2 | - | - |
RFC2 | - | - | - | - | 1 | Loss | - |
RFFL | - | - | - | - | 3 | Gain | - |
RFLNB | - | - | - | - | 1 | Loss | - |
RFX4 | p.R88C | Missense | SNP | 0.514 | 2 | - | - |
RFX5 | - | - | - | - | 4 | Gain | - |
RGCC | - | - | - | - | 1 | Loss | - |
RGL1 | - | - | - | - | 4 | Gain | - |
RGS1 | - | - | - | - | 4 | Gain | - |
RGS11 | p.L378Wfs*23 p.G256S | Frame_Shift_Del Missense | DEL SNP | 0.296 0.289 | 3 | Gain | - |
RGS12 | p.A296S | Missense | SNP | 0.478 | 2 | - | - |
RGS13 | - | - | - | - | 4 | Gain | - |
RGS16 | - | - | - | - | 4 | Gain | - |
RGS18 | - | - | - | - | 4 | Gain | - |
RGS2 | - | - | - | - | 4 | Gain | - |
RGS21 | - | - | - | - | 4 | Gain | - |
RGS22 | p.A640T | Missense | SNP | 0.622 | 2 | - | - |
RGS4 | - | - | - | - | 4 | Gain | - |
RGS5 | - | - | - | - | 4 | Gain | - |
RGS7 | - | - | - | - | 4 | Gain | - |
RGS8 | - | - | - | - | 4 | Gain | - |
RGSL1 | - | - | - | - | 4 | Gain | - |
RHBDD2 | - | - | - | - | 1 | Loss | - |
RHBDF1 | - | - | - | - | 3 | Gain | - |
RHBDL1 | - | - | - | - | 3 | Gain | - |
RHBDL3 | - | - | - | - | 3 | Gain | - |
RHBG | - | - | - | - | 4 | Gain | - |
RHEB | - | - | - | - | 1 | Loss | - |
RHEX | - | - | - | - | 4 | Gain | - |
RHOQ | - | - | - | - | 1 | Loss | - |
RHOT1 | - | - | - | - | 3 | Gain | - |
RHOT2 | - | - | - | - | 3 | Gain | - |
RHOU | - | - | - | - | 4 | Gain | - |
RIF1 | p.S472Pfs*34 | Frame_Shift_Del | DEL | 0.149 | 2 | - | - |
RIIAD1 | - | - | - | - | 4 | Gain | - |
RILP | - | - | - | - | 1 | Loss | - |
RINT1 | - | - | - | - | 1 | Loss | - |
RIT1 | - | - | - | - | 4 | Gain | - |
RMDN2 | - | - | - | - | 1 | Loss | - |
RN7SKP48 | - | - | - | - | ND | ND | RN7SKP71--RN7SKP48 |
RN7SKP71 | - | - | - | - | ND | ND | RN7SKP71--RN7SKP48 |
RNASEH2A | p.V135I | Missense | SNP | 0.433 | 2 | - | - |
RNASEK | - | - | - | - | 1 | Loss | - |
RNASEK-C17orf49 | - | - | - | - | 1 | Loss | - |
RNASEL | - | - | - | - | 4 | Gain | - |
RNF103 | p.K670Sfs*27 | Frame_Shift_Del | DEL | 0.523 | 2 | - | - |
RNF112 | - | - | - | - | 1 | Loss | - |
RNF115 | - | - | - | - | 3 | Gain | - |
RNF133 | - | - | - | - | 1 | Loss | - |
RNF135 | - | - | - | - | 3 | Gain | - |
RNF148 | - | - | - | - | 1 | Loss | - |
RNF151 | - | - | - | - | 3 | Gain | - |
RNF167 | - | - | - | - | 1 | Loss | - |
RNF183 | p.P14H | Missense | SNP | 0.559 | 2 | - | - |
RNF187 | - | - | - | - | 4 | Gain | - |
RNF2 | - | - | - | - | 4 | Gain | - |
RNF213 | p.N360Kfs*37 | Frame_Shift_Ins | INS | 0.324 | 2 | - | - |
RNF216 | - | - | - | - | 3 | Gain | - |
RNF222 | - | - | - | - | 1 | Loss | - |
RNF32 | - | - | - | - | 1 | Loss | - |
RNF43 | p.R286W | Missense | SNP | 0.103 | 2 | - | - |
RNMT | p.T394Hfs*19 | Frame_Shift_Del | DEL | 0.393 | 2 | - | - |
RNPEP | - | - | - | - | 4 | Gain | - |
RNPS1 | - | - | - | - | 3 | Gain | - |
ROBO3 | p.A122T | Missense | SNP | 0.463 | 2 | - | - |
ROCK1 | p.R630* | Nonsense | SNP | 0.639 | 2 | - | - |
ROPN1L | p.S193Y | Missense | SNP | 0.361 | 2 | - | - |
RORC | - | - | - | - | 4 | Gain | - |
RP11-360D2.1 | p.K108Sfs*2 | Frame_Shift_Del | DEL | 0.183 | ND | ND | - |
RP11-382A20.3 | p.P64Hfs*25 | Frame_Shift_Del | DEL | 0.356 | ND | ND | - |
RP11-407P15.2 | p.F163Lfs*9 | Frame_Shift_Del | DEL | 0.428 | ND | ND | - |
RP9 | - | - | - | - | 3 | Gain | - |
RPA1 | - | - | - | - | 1 | Loss | - |
RPA3 | - | - | - | - | 3 | Gain | - |
RPAIN | - | - | - | - | 1 | Loss | - |
RPH3AL | - | - | - | - | 1 | Loss | - |
RPL19 | - | - | - | - | 3 | Gain | - |
RPL23 | - | - | - | - | 3 | Gain | - |
RPL23A | - | - | - | - | 3 | Gain | - |
RPL26 | - | - | - | - | 1 | Loss | - |
RPL3L | - | - | - | - | 3 | Gain | - |
RPRD2 | - | - | - | - | 4 | Gain | - |
RPS2 | - | - | - | - | 3 | Gain | - |
RPS27 | - | - | - | - | 4 | Gain | - |
RPS6KC1 | - | - | - | - | 4 | Gain | - |
RPTN | - | - | - | - | 4 | Gain | - |
RPTOR | p.T1206M | Missense | SNP | 0.497 | 2 | - | - |
RPUSD1 | - | - | - | - | 3 | Gain | - |
RRNAD1 | - | - | - | - | 4 | Gain | - |
RRP15 | - | - | - | - | 4 | Gain | - |
RSBN1L | - | - | - | - | 1 | Loss | - |
RSPH10B | - | - | - | - | 3 | Gain | - |
RSPH10B2 | - | - | - | - | 3 | Gain | - |
RTN4RL1 | - | - | - | - | 1 | Loss | - |
RTP5 | - | - | - | - | 3 | Gain | - |
RUBCNL | - | - | - | - | 1 | Loss | - |
RUNDC3B | - | - | - | - | 1 | Loss | - |
RUSC1 | - | - | - | - | 4 | Gain | - |
RXFP4 | - | - | - | - | 4 | Gain | - |
RXRG | - | - | - | - | 4 | Gain | - |
RYBP | p.Q246* | Nonsense | SNP | 0.610 | 2 | - | - |
RYR1 | p.R2084Q | Missense | SNP | 0.505 | 2 | - | - |
RYR2 | - | - | - | - | 4 | Gain | - |
S100A1 | - | - | - | - | 4 | Gain | - |
S100A10 | - | - | - | - | 4 | Gain | - |
S100A11 | - | - | - | - | 4 | Gain | - |
S100A12 | - | - | - | - | 4 | Gain | - |
S100A13 | - | - | - | - | 4 | Gain | - |
S100A14 | - | - | - | - | 4 | Gain | - |
S100A16 | - | - | - | - | 4 | Gain | - |
S100A2 | - | - | - | - | 4 | Gain | - |
S100A3 | - | - | - | - | 4 | Gain | - |
S100A4 | - | - | - | - | 4 | Gain | - |
S100A5 | - | - | - | - | 4 | Gain | - |
S100A6 | - | - | - | - | 4 | Gain | - |
S100A7 | - | - | - | - | 4 | Gain | - |
S100A7A | - | - | - | - | 4 | Gain | - |
S100A7L2 | - | - | - | - | 4 | Gain | - |
S100A8 | - | - | - | - | 4 | Gain | - |
S100A9 | - | - | - | - | 4 | Gain | - |
SACS | p.K1717Nfs*8 | Frame_Shift_Del | DEL | 0.200 | 2 | - | - |
SAFB | p.R668W | Missense | SNP | 0.512 | 2 | - | - |
SAFB2 | p.P945Rfs*49 | Frame_Shift_Del | DEL | 0.425 | 2 | - | - |
SAMD4A | p.P596L | Missense | SNP | 0.445 | 2 | - | - |
SAMD9 | - | - | - | - | 1 | Loss | - |
SAMD9L | - | - | - | - | 1 | Loss | - |
SAMM50 | p.R180W | Missense | SNP | 0.507 | 2 | - | - |
SAP25 | - | - | - | - | 1 | Loss | - |
SARM1 | - | - | - | - | 3 | Gain | - |
SAT2 | - | - | - | - | 1 | Loss | - |
SBDS | - | - | - | - | 1 | Loss | - |
SBK2 | p.A317T | Missense | SNP | 0.403 | 2 | - | - |
SCAMP3 | - | - | - | - | 4 | Gain | - |
SCAP | p.R819C | Missense | SNP | 0.516 | 2 | - | - |
SCARF1 | - | - | - | - | 1 | Loss | - |
SCCPDH | - | - | - | - | 4 | Gain | - |
SCFD1 | - | - | - | - | 1 | Loss | - |
SCGB1C2 | - | - | - | - | 1 | Loss | - |
SCIMP | - | - | - | - | 1 | Loss | - |
SCIN | - | - | - | - | 3 | Gain | - |
SCMH1 | p.R281W | Missense | SNP | 0.452 | 2 | - | - |
SCNM1 | - | - | - | - | 4 | Gain | - |
SCO1 | - | - | - | - | 1 | Loss | - |
SCRN1 | - | - | - | - | 3 | Gain | - |
SCYL3 | - | - | - | - | 4 | Gain | - |
SDCCAG8 | p.A372V | Missense | SNP | 0.240 | 4 | Gain | - |
SDE2 | - | - | - | - | 4 | Gain | - |
SDF2 | - | - | - | - | 3 | Gain | - |
SDHAF3 | - | - | - | - | 1 | Loss | - |
SDHC | - | - | - | - | 4 | Gain | - |
SDK1 | - | - | - | - | 3 | Gain | - |
SDK2 | p.V1830M | Missense | SNP | 0.453 | 2 | - | - |
SEBOX | - | - | - | - | 3 | Gain | - |
SEC16B | - | - | - | - | 4 | Gain | - |
SEC24B | p.A1048V | Missense | SNP | 0.557 | 2 | - | - |
SEC61G | - | - | - | - | 3 | Gain | - |
SECISBP2 | p.E816Rfs*7 | Frame_Shift_Ins | INS | 0.292 | 2 | - | - |
SELE | - | - | - | - | 4 | Gain | - |
SELENBP1 | - | - | - | - | 4 | Gain | - |
SELENOI | - | - | - | - | 1 | Loss | - |
SELL | - | - | - | - | 4 | Gain | - |
SELP | - | - | - | - | 4 | Gain | - |
SEM1 | - | - | - | - | 1 | Loss | - |
SEMA3A | - | - | - | - | 1 | Loss | - |
SEMA3C | - | - | - | - | 1 | Loss | - |
SEMA3D | - | - | - | - | 1 | Loss | - |
SEMA3E | - | - | - | - | 1 | Loss | - |
SEMA4A | - | - | - | - | 4 | Gain | - |
SEMA4C | p.P759Lfs*36 | Frame_Shift_Del | DEL | 0.497 | 2 | - | - |
SEMA5B | p.R989H | Missense | SNP | 0.528 | 2 | - | - |
SEMA6C | - | - | - | - | 4 | Gain | - |
SENP1 | p.T424A | Missense | SNP | 0.452 | 2 | - | - |
SENP3 | - | - | - | - | 1 | Loss | - |
SENP3-EIF4A1 | - | - | - | - | 1 | Loss | - |
SEPT14 | - | - | - | - | 3 | Gain | - |
SEPT7 | - | - | - | - | 3 | Gain | - |
SEPT8 | p.A186T | Missense | SNP | 0.514 | 2 | - | - |
SERP2 | - | - | - | - | 1 | Loss | - |
SERPINA1 | p.F277del | In_Frame_Del | DEL | 0.503 | 2 | - | - |
SERPINB2 | p.V42A | Missense | SNP | 0.468 | 2 | - | - |
SERPINC1 | - | - | - | - | 4 | Gain | - |
SERPINE1 | - | - | - | - | 1 | Loss | - |
SERPINF1 | - | - | - | - | 1 | Loss | - |
SERPINF2 | - | - | - | - | 1 | Loss | - |
SERTAD4 | - | - | - | - | 4 | Gain | - |
SERTM1 | p.L38Q | Missense | SNP | 0.379 | 2 | - | - |
SESTD1 | p.W74* | Nonsense | SNP | 0.483 | 2 | - | - |
SETD1B | p.H8Tfs*27 p.R1782W | Frame_Shift_Del Missense | DEL SNP | 0.879 0.461 | 2 | - | - |
SETD3 | p.A581V | Missense | SNP | 0.450 | 2 | - | - |
SETD5 | p.R1176* | Nonsense | SNP | 0.479 | 2 | - | - |
SETDB1 | - | - | - | - | 4 | Gain | - |
SETDB2 | - | - | - | - | 1 | Loss | - |
SETX | p.R778Q | Missense | SNP | 0.475 | 2 | - | - |
SEZ6 | - | - | - | - | 3 | Gain | - |
SEZ6L | p.A9T | Missense | SNP | 0.529 | 2 | - | - |
SF3B4 | - | - | - | - | 4 | Gain | - |
SFRP4 | - | - | - | - | 3 | Gain | - |
SFRP5 | p.G9Afs*77 | Frame_Shift_Del | DEL | 0.411 | 2 | - | - |
SFT2D2 | - | - | - | - | 4 | Gain | - |
SGCE | - | - | - | - | 1 | Loss | - |
SGCG | p.R79H | Missense | SNP | 0.529 | 2 | - | - |
SGIP1 | p.G474V | Missense | SNP | 0.487 | 2 | - | - |
SGK494 | - | - | - | - | 3 | Gain | - |
SGO1 | p.M325Cfs*28 | Frame_Shift_Del | DEL | 0.288 | 2 | - | - |
SGSM2 | - | - | - | - | 1 | Loss | - |
SH2B2 | - | - | - | - | 1 | Loss | - |
SH2D1B | - | - | - | - | 4 | Gain | - |
SH2D2A | - | - | - | - | 4 | Gain | - |
SH3BP5L | p.R139W | Missense | SNP | 0.737 | 4 | Gain | - |
SHBG | - | - | - | - | 1 | Loss | - |
SHC1 | - | - | - | - | 4 | Gain | - |
SHC3 | p.A246V | Missense | SNP | 0.435 | 2 | - | - |
SHCBP1L | - | - | - | - | 4 | Gain | - |
SHE | - | - | - | - | 4 | Gain | - |
SHH | - | - | - | - | 1 | Loss | - |
SHISA4 | p.R116H | Missense | SNP | 0.224 | 4 | Gain | - |
SHISA6 | - | - | - | - | 1 | Loss | - |
SHMT1 | - | - | - | - | 1 | Loss | - |
SHPK | - | - | - | - | 1 | Loss | - |
SHROOM1 | p.P113L | Missense | SNP | 0.468 | 2 | - | - |
SIAH3 | - | - | - | - | 1 | Loss | - |
SIGLEC12 | p.T303M | Missense | SNP | 0.488 | 2 | - | - |
SIK1 | - | - | - | - | 1 | Loss | - |
SIK1B | - | - | - | - | 1 | Loss | - |
SIPA1L2 | - | - | - | - | 4 | Gain | - |
SIPA1L3 | p.R169H | Missense | SNP | 0.442 | 2 | - | - |
SIRT6 | p.G69R | Missense | SNP | 0.202 | 2 | - | - |
SIX2 | - | - | - | - | 1 | Loss | - |
SIX3 | - | - | - | - | 1 | Loss | - |
SIX6 | p.R123H | Missense | SNP | 0.436 | 2 | - | - |
SKAP2 | - | - | - | - | 3 | Gain | - |
SKIDA1 | p.E597D | Missense | SNP | 0.438 | 2 | - | - |
SLAMF1 | p.S277Afs*54 | Frame_Shift_Del | DEL | 0.171 | 4 | Gain | - |
SLAMF6 | - | - | - | - | 4 | Gain | - |
SLAMF7 | - | - | - | - | 4 | Gain | - |
SLAMF8 | - | - | - | - | 4 | Gain | - |
SLAMF9 | - | - | - | - | 4 | Gain | - |
SLC12A9 | - | - | - | - | 1 | Loss | - |
SLC13A1 | - | - | - | - | 1 | Loss | - |
SLC13A2 | - | - | - | - | 3 | Gain | - |
SLC13A4 | - | - | - | - | 1 | Loss | - |
SLC13A5 | - | - | - | - | 1 | Loss | - |
SLC16A11 | - | - | - | - | 1 | Loss | - |
SLC16A13 | - | - | - | - | 1 | Loss | - |
SLC18A2 | p.V417I | Missense | SNP | 0.510 | 2 | - | - |
SLC19A2 | - | - | - | - | 4 | Gain | - |
SLC22A6 | p.R192W | Missense | SNP | 0.542 | 2 | - | - |
SLC25A11 | - | - | - | - | 1 | Loss | - |
SLC25A13 | - | - | - | - | 1 | Loss | - |
SLC25A15 | - | - | - | - | 1 | Loss | - |
SLC25A30 | - | - | - | - | 1 | Loss | - |
SLC25A35 | - | - | - | - | 1 | Loss | - |
SLC25A40 | - | - | - | - | 1 | Loss | - |
SLC25A44 | - | - | - | - | 4 | Gain | - |
SLC26A3 | - | - | - | - | 1 | Loss | - |
SLC26A4 | - | - | - | - | 1 | Loss | - |
SLC26A5 | - | - | - | - | 1 | Loss | - |
SLC26A9 | p.R578S | Missense | SNP | 0.763 | 4 | Gain | - |
SLC27A3 | - | - | - | - | 4 | Gain | - |
SLC29A4 | - | - | - | - | 3 | Gain | - |
SLC2A4 | - | - | - | - | 1 | Loss | - |
SLC30A1 | - | - | - | - | 4 | Gain | - |
SLC30A10 | - | - | - | - | 4 | Gain | - |
SLC30A3 | - | - | - | - | 1 | Loss | - |
SLC30A4 | p.V283A | Missense | SNP | 0.491 | 2 | - | - |
SLC30A6 | - | - | - | - | 1 | Loss | - |
SLC35B4 | - | - | - | - | 1 | Loss | - |
SLC35C1 | p.P349L | Missense | SNP | 0.217 | 2 | - | - |
SLC35F3 | - | - | - | - | 4 | Gain | - |
SLC35F6 | - | - | - | - | 1 | Loss | - |
SLC35G3 | - | - | - | - | 3 | Gain | - |
SLC35G6 | - | - | - | - | 1 | Loss | - |
SLC37A3 | - | - | - | - | 1 | Loss | - |
SLC38A8 | p.T427M | Missense | SNP | 0.490 | 2 | - | - |
SLC39A1 | - | - | - | - | 4 | Gain | - |
SLC3A1 | - | - | - | - | 1 | Loss | - |
SLC41A1 | - | - | - | - | 4 | Gain | - |
SLC43A2 | - | - | - | - | 1 | Loss | - |
SLC44A3 | p.S77Y | Missense | SNP | 0.478 | 2 | - | - |
SLC45A3 | - | - | - | - | 4 | Gain | - |
SLC46A1 | - | - | - | - | 3 | Gain | - |
SLC47A1 | - | - | - | - | 1 | Loss | - |
SLC47A2 | - | - | - | - | 1 | Loss | - |
SLC4A1AP | - | - | - | - | 1 | Loss | - |
SLC4A2 | - | - | - | - | 1 | Loss | - |
SLC50A1 | - | - | - | - | 4 | Gain | - |
SLC52A1 | - | - | - | - | 1 | Loss | - |
SLC5A10 | - | - | - | - | 1 | Loss | - |
SLC5A6 | - | - | - | - | 1 | Loss | - |
SLC6A4 | - | - | - | - | 3 | Gain | - |
SLC6A9 | p.R100W | Missense | SNP | 0.477 | 2 | - | - |
SLC8A1 | - | - | - | - | 1 | Loss | - |
SLC9A3R2 | - | - | - | - | 3 | Gain | - |
SLC9A4 | p.V220M | Missense | SNP | 0.536 | 2 | - | - |
SLC9C2 | - | - | - | - | 4 | Gain | - |
SLFN11 | - | - | - | - | 3 | Gain | - |
SLFN12 | - | - | - | - | 3 | Gain | - |
SLFN12L | - | - | - | - | 3 | Gain | - |
SLFN13 | - | - | - | - | 3 | Gain | - |
SLFN14 | - | - | - | - | 3 | Gain | - |
SLFN5 | - | - | - | - | 3 | Gain | - |
SLTM | p.R657W | Missense | SNP | 0.506 | 2 | - | - |
SLX4 | p.A117T | Missense | SNP | 0.432 | 2 | - | - |
SMARCA4 | p.N91K | Missense | SNP | 0.498 | 2 | - | - |
SMARCD3 | - | - | - | - | 1 | Loss | - |
SMARCE1 | - | - | - | - | 3 | Gain | - |
SMCHD1 | p.R1868* | Nonsense | SNP | 0.417 | 2 | - | - |
SMCP | - | - | - | - | 4 | Gain | - |
SMCR8 | - | - | - | - | 1 | Loss | - |
SMG5 | - | - | - | - | 4 | Gain | - |
SMG6 | p.A1263V | Missense | SNP | 1.000 | 1 | Loss | - |
SMG7 | - | - | - | - | 4 | Gain | - |
SMIM11B | - | - | - | - | 1 | Loss | - |
SMIM2 | - | - | - | - | 1 | Loss | - |
SMKR1 | - | - | - | - | 1 | Loss | - |
SMO | - | - | - | - | 1 | Loss | - |
SMTNL2 | - | - | - | - | 1 | Loss | - |
SMURF1 | - | - | - | - | 1 | Loss | - |
SMYD2 | - | - | - | - | 4 | Gain | - |
SMYD3 | - | - | - | - | 4 | Gain | - |
SMYD4 | - | - | - | - | 1 | Loss | - |
SNAP47 | - | - | - | - | 4 | Gain | - |
SNAPIN | - | - | - | - | 4 | Gain | - |
SND1 | - | - | - | - | 1 | Loss | - |
SNHG28 | - | - | - | - | 4 | Gain | - |
SNRNP25 | - | - | - | - | 3 | Gain | - |
SNRPE | - | - | - | - | 4 | Gain | - |
SNX1 | p.R185Efs*33 | Frame_Shift_Del | DEL | 0.545 | 2 | - | - |
SNX10 | - | - | - | - | 3 | Gain | - |
SNX13 | - | - | - | - | 3 | Gain | - |
SNX17 | - | - | - | - | 1 | Loss | - |
SNX27 | - | - | - | - | 4 | Gain | - |
SNX8 | - | - | - | - | 3 | Gain | - |
SOAT1 | - | - | - | - | 4 | Gain | - |
SOCS5 | - | - | - | - | 1 | Loss | - |
SOCS7 | - | - | - | - | 3 | Gain | - |
SON | p.P406H | Missense | SNP | 0.512 | 2 | - | - |
SORBS1 | p.V633M | Missense | SNP | 0.371 | 2 | - | - |
SORBS2 | p.E1144Nfs*65 | Frame_Shift_Del | DEL | 0.275 | 2 | - | - |
SORCS2 | p.A863V | Missense | SNP | 0.507 | 2 | - | - |
SOS1 | - | - | - | - | 1 | Loss | - |
SOSTDC1 | - | - | - | - | 3 | Gain | - |
SOX13 | - | - | - | - | 4 | Gain | - |
SOX15 | - | - | - | - | 1 | Loss | - |
SOX17 | p.T361M | Missense | SNP | 0.467 | 2 | - | - |
SOX8 | - | - | - | - | 3 | Gain | - |
SOX9 | p.G225Afs*28 | Frame_Shift_Del | DEL | 0.535 | 2 | - | - |
SP4 | - | - | - | - | 3 | Gain | - |
SP8 | - | - | - | - | 3 | Gain | - |
SPACA3 | - | - | - | - | 3 | Gain | - |
SPACA7 | p.L124P | Missense | SNP | 0.536 | 2 | - | - |
SPAG11B | - | - | - | - | 1 | Loss | - |
SPAG5 | - | - | - | - | 3 | Gain | - |
SPAG7 | - | - | - | - | 1 | Loss | - |
SPAM1 | - | - | - | - | 1 | Loss | - |
SPAST | - | - | - | - | 1 | Loss | - |
SPATA17 | - | - | - | - | 4 | Gain | - |
SPATA22 | - | - | - | - | 1 | Loss | - |
SPATA45 | - | - | - | - | 4 | Gain | - |
SPATA46 | - | - | - | - | 4 | Gain | - |
SPATA48 | - | - | - | - | 3 | Gain | - |
SPDYA | - | - | - | - | 1 | Loss | - |
SPDYE16 | - | - | - | - | 1 | Loss | - |
SPDYE3 | - | - | - | - | 1 | Loss | - |
SPDYE4 | - | - | - | - | 1 | Loss | - |
SPECC1 | - | - | - | - | 1 | Loss | - |
SPEM1 | - | - | - | - | 1 | Loss | - |
SPEM2 | - | - | - | - | 1 | Loss | - |
SPEN | p.T3558M | Missense | SNP | 0.242 | 2 | - | - |
SPERT | - | - | - | - | 1 | Loss | - |
SPHAR | - | - | - | - | 4 | Gain | - |
SPINK7 | p.V30Wfs*42 | Frame_Shift_Del | DEL | 0.514 | 2 | - | - |
SPNS2 | - | - | - | - | 1 | Loss | - |
SPNS3 | - | - | - | - | 1 | Loss | - |
SPOCD1 | p.D199Y | Missense | SNP | 0.562 | 2 | - | - |
SPRR1A | - | - | - | - | 4 | Gain | - |
SPRR1B | - | - | - | - | 4 | Gain | - |
SPRR2G | - | - | - | - | 4 | Gain | - |
SPRR3 | - | - | - | - | 4 | Gain | - |
SPRR4 | - | - | - | - | 4 | Gain | - |
SPRTN | - | - | - | - | 4 | Gain | - |
SPRYD7 | - | - | - | - | 1 | Loss | - |
SPSB3 | - | - | - | - | 3 | Gain | - |
SPTA1 | - | - | - | - | 4 | Gain | - |
SPTAN1 | p.V444I | Missense | SNP | 0.128 | 2 | - | - |
SPTBN2 | p.A1625V p.E1048D | Missense Missense | SNP SNP | 0.498 0.481 | 2 | - | - |
SPTBN4 | p.E138Afs*9 | Frame_Shift_Del | DEL | 0.350 | 2 | - | - |
SRA1 | - | - | - | - | 3 | Gain | - |
SRBD1 | - | - | - | - | 1 | Loss | - |
SRCIN1 | p.G486Efs*201 | Frame_Shift_Del | DEL | 0.288 | 3 | Gain | - |
SRD5A2 | - | - | - | - | 1 | Loss | - |
SREBF1 | - | - | - | - | 1 | Loss | - |
SRGAP2 | - | - | - | - | 4 | Gain | - |
SRGAP2B | - | - | - | - | 3 | Gain | - |
SRI | - | - | - | - | 1 | Loss | - |
SRP9 | - | - | - | - | 4 | Gain | - |
SRPK2 | - | - | - | - | 1 | Loss | - |
SRR | - | - | - | - | 1 | Loss | - |
SRRM3 | - | - | - | - | 1 | Loss | - |
SRRM5 | p.R197H | Missense | SNP | 0.515 | 2 | - | - |
SRRT | - | - | - | - | 1 | Loss | - |
SRSF7 | - | - | - | - | 1 | Loss | - |
SSBP1 | - | - | - | - | 1 | Loss | - |
SSC4D | - | - | - | - | 1 | Loss | - |
SSH2 | - | - | - | - | 3 | Gain | - |
SSMEM1 | - | - | - | - | 1 | Loss | - |
SSPO | - | - | - | - | 1 | Loss | - |
SSR2 | - | - | - | - | 4 | Gain | - |
SSTR5 | - | - | - | - | 3 | Gain | - |
ST7 | - | - | - | - | 1 | Loss | - |
STAB1 | p.P978Lfs*57 p.R1122Pfs*37 | Frame_Shift_Del Frame_Shift_Ins | DEL INS | 0.427 0.300 | 2 | - | - |
STAC2 | - | - | - | - | 3 | Gain | - |
STAC3 | p.P79Qfs*31 | Frame_Shift_Del | DEL | 0.465 | 2 | - | - |
STAG3 | - | - | - | - | 1 | Loss | - |
STARD3 | - | - | - | - | 3 | Gain | - |
STARD3NL | - | - | - | - | 3 | Gain | - |
STAT3 | - | - | - | - | 3 | Gain | - |
STAT5A | - | - | - | - | 3 | Gain | - |
STAT5B | - | - | - | - | 3 | Gain | - |
STEAP1 | - | - | - | - | 1 | Loss | - |
STEAP1B | - | - | - | - | 3 | Gain | - |
STEAP2 | - | - | - | - | 1 | Loss | - |
STEAP4 | - | - | - | - | 1 | Loss | - |
STIP1 | p.R91C | Missense | SNP | 0.369 | 2 | - | - |
STK17A | - | - | - | - | 3 | Gain | - |
STK31 | - | - | - | - | 3 | Gain | - |
STK32C | p.V193A | Missense | SNP | 0.516 | 2 | - | - |
STMP1 | - | - | - | - | 1 | Loss | - |
STON1 | - | - | - | - | 1 | Loss | - |
STON1-GTF2A1L | - | - | - | - | 1 | Loss | - |
STOX1 | p.R492* | Nonsense | SNP | 0.475 | 2 | - | - |
STPG4 | - | - | - | - | 1 | Loss | - |
STRA8 | - | - | - | - | 1 | Loss | - |
STRIP2 | - | - | - | - | 1 | Loss | - |
STRN | - | - | - | - | 1 | Loss | - |
STUB1 | - | - | - | - | 3 | Gain | - |
STUM | - | - | - | - | 4 | Gain | - |
STX1A | - | - | - | - | 1 | Loss | - |
STX6 | - | - | - | - | 4 | Gain | - |
STX8 | - | - | - | - | 1 | Loss | - |
STYXL1 | - | - | - | - | 1 | Loss | - |
SUCLA2 | - | - | - | - | 1 | Loss | - |
SUCO | - | - | - | - | 4 | Gain | - |
SUGCT | - | - | - | - | 3 | Gain | - |
SULF1 | p.R440W | Missense | SNP | 0.410 | 2 | - | - |
SULF2 | p.V290A | Missense | SNP | 0.480 | 2 | - | - |
SULT6B1 | - | - | - | - | 1 | Loss | - |
SUMF2 | - | - | - | - | 3 | Gain | - |
SUN1 | - | - | - | - | 3 | Gain | - |
SUN3 | - | - | - | - | 3 | Gain | - |
SUPT6H | - | - | - | - | 3 | Gain | - |
SUPT7L | - | - | - | - | 1 | Loss | - |
SUSD4 | - | - | - | - | 4 | Gain | - |
SUZ12 | - | - | - | - | 3 | Gain | - |
SV2A | - | - | - | - | 4 | Gain | - |
SVOPL | - | - | - | - | 1 | Loss | - |
SWT1 | - | - | - | - | 4 | Gain | - |
SYDE1 | p.R574H | Missense | SNP | 0.566 | 2 | - | - |
SYNE2 | p.F4992Lfs*13 | Frame_Shift_Del | DEL | 0.072 | 2 | - | - |
SYNGR3 | - | - | - | - | 3 | Gain | - |
SYNRG | - | - | - | - | 3 | Gain | - |
SYPL1 | - | - | - | - | 1 | Loss | - |
SYT11 | - | - | - | - | 4 | Gain | - |
SYT14 | - | - | - | - | 4 | Gain | - |
SYT2 | - | - | - | - | 4 | Gain | - |
SZT2 | p.T2132M | Missense | SNP | 0.459 | 2 | - | - |
TAC1 | - | - | - | - | 1 | Loss | - |
TACC2 | p.P2149Qfs*2 | Frame_Shift_Del | DEL | 0.341 | 2 | - | - |
TADA1 | - | - | - | - | 4 | Gain | - |
TADA2A | - | - | - | - | 3 | Gain | - |
TAF15 | - | - | - | - | 3 | Gain | - |
TAF1A | - | - | - | - | 4 | Gain | - |
TAF1B | p.N66Tfs*26 | Frame_Shift_Del | DEL | 0.840 | 2 | - | - |
TAF5L | - | - | - | - | 4 | Gain | - |
TAF6 | - | - | - | - | 1 | Loss | - |
TAGLN2 | - | - | - | - | 4 | Gain | - |
TAOK1 | - | - | - | - | 3 | Gain | - |
TARBP1 | - | - | - | - | 4 | Gain | - |
TARS2 | - | - | - | - | 4 | Gain | - |
TAS2R16 | - | - | - | - | 1 | Loss | - |
TAS2R3 | - | - | - | - | 1 | Loss | - |
TAS2R38 | - | - | - | - | 1 | Loss | - |
TAS2R39 | - | - | - | - | 1 | Loss | - |
TAS2R4 | - | - | - | - | 1 | Loss | - |
TAS2R40 | - | - | - | - | 1 | Loss | - |
TAS2R41 | - | - | - | - | 1 | Loss | - |
TAS2R5 | - | - | - | - | 1 | Loss | - |
TAS2R60 | - | - | - | - | 1 | Loss | - |
TATDN3 | - | - | - | - | 4 | Gain | - |
TAX1BP1 | - | - | - | - | 3 | Gain | - |
TAX1BP3 | - | - | - | - | 1 | Loss | - |
TBC1D24 | - | - | - | - | 3 | Gain | - |
TBC1D26 | - | - | - | - | 1 | Loss | - |
TBC1D28 | - | - | - | - | 1 | Loss | - |
TBC1D29 | - | - | - | - | 3 | Gain | - |
TBC1D3 | - | - | - | - | 3 | Gain | - |
TBC1D3B | - | - | - | - | 3 | Gain | - |
TBC1D3E | - | - | - | - | 3 | Gain | - |
TBC1D3F | - | - | - | - | 3 | Gain | - |
TBC1D3K | - | - | - | - | 3 | Gain | - |
TBCE | - | - | - | - | 4 | Gain | - |
TBL2 | - | - | - | - | 1 | Loss | - |
TBL3 | - | - | - | - | 3 | Gain | - |
TBRG4 | - | - | - | - | 3 | Gain | - |
TBX19 | - | - | - | - | 4 | Gain | - |
TBX20 | - | - | - | - | 3 | Gain | - |
TBX21 | p.R80Q | Missense | SNP | 0.527 | 2 | - | - |
TBXAS1 | - | - | - | - | 1 | Loss | - |
TCAF1 | - | - | - | - | 1 | Loss | - |
TCAF2 | - | - | - | - | 1 | Loss | - |
TCAF2C | - | - | - | - | 1 | Loss | - |
TCAP | - | - | - | - | 3 | Gain | - |
TCF23 | - | - | - | - | 1 | Loss | - |
TCHH | - | - | - | - | 4 | Gain | - |
TCHHL1 | - | - | - | - | 4 | Gain | - |
TCOF1 | p.S1204P | Missense | SNP | 0.580 | 2 | - | - |
TDRD10 | - | - | - | - | 4 | Gain | - |
TDRD5 | - | - | - | - | 4 | Gain | - |
TDRKH | - | - | - | - | 4 | Gain | - |
TECPR1 | - | - | - | - | 1 | Loss | - |
TEDC2 | - | - | - | - | 3 | Gain | - |
TEDDM1 | - | - | - | - | 4 | Gain | - |
TEFM | - | - | - | - | 3 | Gain | - |
TEKT1 | - | - | - | - | 1 | Loss | - |
TEKT3 | - | - | - | - | 1 | Loss | - |
TELO2 | - | - | - | - | 3 | Gain | - |
TENM4 | p.R2238Q | Missense | SNP | 0.471 | 2 | - | - |
TERT | p.V553I | Missense | SNP | 0.162 | 2 | - | - |
TES | - | - | - | - | 1 | Loss | - |
TESPA1 | p.P347Lfs*30 | Frame_Shift_Del | DEL | 0.521 | 2 | - | - |
TEX35 | - | - | - | - | 4 | Gain | - |
TEX47 | - | - | - | - | 1 | Loss | - |
TEX50 | - | - | - | - | 4 | Gain | - |
TFB2M | - | - | - | - | 4 | Gain | - |
TFEC | - | - | - | - | 1 | Loss | - |
TFPI2 | - | - | - | - | 1 | Loss | - |
TFR2 | - | - | - | - | 1 | Loss | - |
TGFB2 | - | - | - | - | 4 | Gain | - |
THADA | - | - | - | - | 1 | Loss | - |
THAP5 | - | - | - | - | 1 | Loss | - |
THBS1 | p.L240I | Missense | SNP | 0.458 | 2 | - | - |
THBS3 | - | - | - | - | 4 | Gain | - |
THEM4 | - | - | - | - | 4 | Gain | - |
THEM5 | - | - | - | - | 4 | Gain | - |
THNSL2 | p.X359_splice | Splice_Site | SNP | 0.445 | 2 | - | - |
THRA | - | - | - | - | 3 | Gain | - |
THSD7A | - | - | - | - | 3 | Gain | - |
THUMPD2 | - | - | - | - | 1 | Loss | - |
TIAF1 | - | - | - | - | 3 | Gain | - |
TIAM1 | p.R31C | Missense | SNP | 0.509 | 2 | - | - |
TICRR | p.R1899W | Missense | SNP | 0.581 | 2 | - | - |
TIE1 | p.F1100Lfs*8 | Frame_Shift_Del | DEL | 0.502 | 2 | - | - |
TIMM17A | - | - | - | - | 4 | Gain | - |
TIMM22 | - | - | - | - | 1 | Loss | - |
TIMM44 | p.V183Wfs*4 | Frame_Shift_Del | DEL | 0.432 | 2 | - | - |
TIPRL | - | - | - | - | 4 | Gain | - |
TJAP1 | p.E134D | Missense | SNP | 0.477 | 2 | - | - |
TLCD1 | - | - | - | - | 3 | Gain | - |
TLCD2 | - | - | - | - | 1 | Loss | - |
TLE2 | p.G388R | Missense | SNP | 0.467 | 2 | - | - |
TLR5 | - | - | - | - | 4 | Gain | - |
TLX3 | p.G50Afs*29 | Frame_Shift_Del | DEL | 0.401 | 2 | - | - |
TM4SF5 | - | - | - | - | 1 | Loss | - |
TMC4 | p.V335G | Missense | SNP | 0.484 | 2 | - | - |
TMCC2 | - | - | - | - | 4 | Gain | - |
TMCO1 | - | - | - | - | 4 | Gain | - |
TMED4 | - | - | - | - | 3 | Gain | - |
TMEM102 | - | - | - | - | 1 | Loss | - |
TMEM106B | - | - | - | - | 3 | Gain | - |
TMEM107 | - | - | - | - | 1 | Loss | - |
TMEM11 | - | - | - | - | 1 | Loss | - |
TMEM120A | - | - | - | - | 1 | Loss | - |
TMEM130 | - | - | - | - | 1 | Loss | - |
TMEM132E | - | - | - | - | 3 | Gain | - |
TMEM139 | - | - | - | - | 1 | Loss | - |
TMEM140 | - | - | - | - | 1 | Loss | - |
TMEM150B | p.A194T | Missense | SNP | 0.505 | 2 | - | - |
TMEM161B | p.L243* | Frame_Shift_Del | DEL | 0.525 | 2 | - | - |
TMEM168 | - | - | - | - | 1 | Loss | - |
TMEM176A | - | - | - | - | 1 | Loss | - |
TMEM176B | - | - | - | - | 1 | Loss | - |
TMEM178A | - | - | - | - | 1 | Loss | - |
TMEM178B | - | - | - | - | 1 | Loss | - |
TMEM182 | p.D187V | Missense | SNP | 0.518 | 2 | - | - |
TMEM183A | - | - | - | - | 4 | Gain | - |
TMEM184A | - | - | - | - | 3 | Gain | - |
TMEM196 | - | - | - | - | 3 | Gain | - |
TMEM199 | - | - | - | - | 3 | Gain | - |
TMEM200A | p.R114C | Missense | SNP | 0.437 | 2 | - | - |
TMEM200B | p.A211T | Missense | SNP | 0.469 | 2 | - | - |
TMEM204 | - | - | - | - | 3 | Gain | - |
TMEM206 | - | - | - | - | 4 | Gain | - |
TMEM209 | - | - | - | - | 1 | Loss | - |
TMEM213 | - | - | - | - | 1 | Loss | - |
TMEM214 | - | - | - | - | 1 | Loss | - |
TMEM220 | - | - | - | - | 1 | Loss | - |
TMEM225B | - | - | - | - | 1 | Loss | - |
TMEM229A | - | - | - | - | 1 | Loss | - |
TMEM243 | - | - | - | - | 1 | Loss | - |
TMEM247 | - | - | - | - | 1 | Loss | - |
TMEM248 | - | - | - | - | 1 | Loss | - |
TMEM256 | - | - | - | - | 1 | Loss | - |
TMEM256-PLSCR3 | - | - | - | - | 1 | Loss | - |
TMEM270 | - | - | - | - | 1 | Loss | - |
TMEM60 | - | - | - | - | 1 | Loss | - |
TMEM63A | - | - | - | - | 4 | Gain | - |
TMEM79 | - | - | - | - | 4 | Gain | - |
TMEM81 | - | - | - | - | 4 | Gain | - |
TMEM88 | - | - | - | - | 1 | Loss | - |
TMEM8A | - | - | - | - | 3 | Gain | - |
TMEM9 | - | - | - | - | 4 | Gain | - |
TMEM95 | - | - | - | - | 1 | Loss | - |
TMEM97 | - | - | - | - | 3 | Gain | - |
TMEM98 | - | - | - | - | 3 | Gain | - |
TMEM99 | p.G88S | Missense | SNP | 0.236 | 3 | Gain | - |
TMIGD1 | - | - | - | - | 3 | Gain | - |
TMOD4 | - | - | - | - | 4 | Gain | - |
TMTC4 | p.K458Rfs*17 p.Y341H | Frame_Shift_Del Missense | DEL SNP | 0.449 0.513 | 2 | - | - |
TMUB1 | - | - | - | - | 1 | Loss | - |
TNC | p.R1309C | Missense | SNP | 0.513 | 2 | - | - |
TNFAIP1 | - | - | - | - | 3 | Gain | - |
TNFAIP8L2 | - | - | - | - | 4 | Gain | - |
TNFRSF10A | p.A303T | Missense | SNP | 0.485 | 2 | - | - |
TNFRSF13B | - | - | - | - | 1 | Loss | - |
TNFSF11 | - | - | - | - | 1 | Loss | - |
TNFSF12 | - | - | - | - | 1 | Loss | - |
TNFSF12-TNFSF13 | - | - | - | - | 1 | Loss | - |
TNFSF13 | - | - | - | - | 1 | Loss | - |
TNFSF18 | - | - | - | - | 4 | Gain | - |
TNFSF4 | - | - | - | - | 4 | Gain | - |
TNK1 | - | - | - | - | 1 | Loss | - |
TNKS2 | p.D704G | Missense | SNP | 0.463 | 2 | - | - |
TNN | - | - | - | - | 4 | Gain | - |
TNNI1 | - | - | - | - | 4 | Gain | - |
TNNT2 | - | - | - | - | 4 | Gain | - |
TNPO3 | - | - | - | - | 1 | Loss | - |
TNR | - | - | - | - | 4 | Gain | - |
TNRC18 | - | - | - | - | 3 | Gain | - |
TNS3 | - | - | - | - | 3 | Gain | - |
TNS4 | - | - | - | - | 3 | Gain | - |
TOB1 | p.R83C | Missense | SNP | 0.421 | 2 | - | - |
TOGARAM2 | - | - | - | - | 1 | Loss | - |
TOM1 | p.S348G | Missense | SNP | 0.484 | 2 | - | - |
TOM1L2 | - | - | - | - | 1 | Loss | - |
TOMM20 | - | - | - | - | 4 | Gain | - |
TOMM40L | - | - | - | - | 4 | Gain | - |
TOMM7 | - | - | - | - | 3 | Gain | - |
TOP2A | p.I172R | Missense | SNP | 0.582 | 3 | Gain | - |
TOP3A | - | - | - | - | 1 | Loss | - |
TOR1AIP1 | p.G488C | Missense | SNP | 0.232 | 4 | Gain | - |
TOR1AIP2 | - | - | - | - | 4 | Gain | - |
TOR3A | - | - | - | - | 4 | Gain | - |
TP53 | p.R181H | Missense | SNP | 1.000 | 1 | Loss | - |
TP53BP2 | - | - | - | - | 4 | Gain | - |
TP53I13 | - | - | - | - | 3 | Gain | - |
TPK1 | - | - | - | - | 1 | Loss | - |
TPM3 | - | - | - | - | 4 | Gain | - |
TPP1 | p.H166Mfs*17 | Frame_Shift_Del | DEL | 0.423 | 2 | - | - |
TPR | - | - | - | - | 4 | Gain | - |
TPSAB1 | - | - | - | - | 3 | Gain | - |
TPSB2 | - | - | - | - | 3 | Gain | - |
TPSD1 | - | - | - | - | 3 | Gain | - |
TPSG1 | - | - | - | - | 3 | Gain | - |
TPST1 | - | - | - | - | 1 | Loss | - |
TPT1 | - | - | - | - | 1 | Loss | - |
TPTE2 | p.F161Lfs*15 | Frame_Shift_Del | DEL | 0.324 | 2 | - | - |
TRA2A | - | - | - | - | 3 | Gain | - |
TRAF3IP3 | p.E55Afs*67 | Frame_Shift_Del | DEL | 0.284 | 4 | Gain | - |
TRAF4 | - | - | - | - | 3 | Gain | - |
TRAF5 | - | - | - | - | 4 | Gain | - |
TRAF7 | - | - | - | - | 3 | Gain | - |
TRANK1 | p.L1219Sfs*25 | Frame_Shift_Ins | INS | 0.326 | 2 | - | - |
TRAPPC1 | - | - | - | - | 1 | Loss | - |
TRARG1 | - | - | - | - | 1 | Loss | - |
TRIB3 | p.R261W | Missense | SNP | 0.472 | 2 | - | - |
TRIL | - | - | - | - | 3 | Gain | - |
TRIM11 | - | - | - | - | 4 | Gain | - |
TRIM13 | - | - | - | - | 1 | Loss | - |
TRIM16 | - | - | - | - | 1 | Loss | - |
TRIM16L | - | - | - | - | 1 | Loss | - |
TRIM17 | - | - | - | - | 4 | Gain | - |
TRIM24 | - | - | - | - | 1 | Loss | - |
TRIM4 | - | - | - | - | 1 | Loss | - |
TRIM45 | p.I90F | Missense | SNP | 0.523 | 2 | - | - |
TRIM46 | - | - | - | - | 4 | Gain | - |
TRIM50 | - | - | - | - | 1 | Loss | - |
TRIM54 | p.R289H | Missense | SNP | 1.000 | 1 | Loss | - |
TRIM56 | - | - | - | - | 1 | Loss | - |
TRIM58 | - | - | - | - | 4 | Gain | - |
TRIM67 | - | - | - | - | 4 | Gain | - |
TRIM73 | - | - | - | - | 1 | Loss | - |
TRIM74 | - | - | - | - | 1 | Loss | - |
TRIP10 | p.G557D | Missense | SNP | 0.431 | 2 | - | - |
TRIP6 | - | - | - | - | 1 | Loss | - |
TRMO | p.D318Y | Missense | SNP | 0.435 | 2 | - | - |
TRMT1L | - | - | - | - | 4 | Gain | - |
TRMT2A | p.R532Q | Missense | SNP | 0.490 | 2 | - | - |
TRMT6 | p.R238W | Missense | SNP | 0.451 | 2 | - | - |
TRMT61B | - | - | - | - | 1 | Loss | - |
TROVE2 | - | - | - | - | 4 | Gain | - |
TRPA1 | p.R393* | Nonsense | SNP | 0.350 | 2 | - | - |
TRPV1 | - | - | - | - | 1 | Loss | - |
TRPV2 | - | - | - | - | 1 | Loss | - |
TRPV3 | - | - | - | - | 1 | Loss | - |
TRPV5 | - | - | - | - | 1 | Loss | - |
TRPV6 | - | - | - | - | 1 | Loss | - |
TRRAP | - | - | - | - | 1 | Loss | - |
TSACC | - | - | - | - | 4 | Gain | - |
TSC2 | - | - | - | - | 3 | Gain | - |
TSC22D1 | - | - | - | - | 1 | Loss | - |
TSC22D4 | - | - | - | - | 1 | Loss | - |
TSEN15 | - | - | - | - | 4 | Gain | - |
TSGA10 | p.R11C | Missense | SNP | 0.419 | 2 | - | - |
TSGA13 | - | - | - | - | 1 | Loss | - |
TSNAX | - | - | - | - | 4 | Gain | - |
TSNAX-DISC1 | - | - | - | - | 4 | Gain | - |
TSPAN12 | - | - | - | - | 1 | Loss | - |
TSPAN13 | - | - | - | - | 3 | Gain | - |
TSPAN33 | - | - | - | - | 1 | Loss | - |
TSR1 | - | - | - | - | 1 | Loss | - |
TSR3 | - | - | - | - | 3 | Gain | - |
TST | p.E286Rfs*10 | Frame_Shift_Ins | INS | 0.335 | 2 | - | - |
TSTD1 | - | - | - | - | 4 | Gain | - |
TTC13 | - | - | - | - | 4 | Gain | - |
TTC19 | - | - | - | - | 1 | Loss | - |
TTC24 | - | - | - | - | 4 | Gain | - |
TTC25 | - | - | - | - | 3 | Gain | - |
TTC26 | - | - | - | - | 1 | Loss | - |
TTC27 | - | - | - | - | 1 | Loss | - |
TTC7A | - | - | - | - | 1 | Loss | - |
TTK | p.K857Nfs*36 | Frame_Shift_Del | DEL | 0.455 | 2 | - | - |
TTLL5 | p.R556* | Nonsense | SNP | 0.444 | 2 | - | - |
TTN | p.A16870V p.P11756T p.T10168M | Missense Missense Missense | SNP SNP SNP | 0.448 0.289 0.486 | 2 | - | - |
TTYH3 | - | - | - | - | 3 | Gain | - |
TUBA3E | p.E411K | Missense | SNP | 0.527 | 2 | - | - |
TUBB4B | p.M363Cfs*53 | Frame_Shift_Del | DEL | 0.502 | 2 | - | - |
TUFT1 | - | - | - | - | 4 | Gain | - |
TVP23B | - | - | - | - | 1 | Loss | - |
TVP23C | - | - | - | - | 1 | Loss | - |
TVP23C-CDRT4 | - | - | - | - | 1 | Loss | - |
TWIST1 | - | - | - | - | 3 | Gain | - |
TWISTNB | p.K311Rfs*15 | Frame_Shift_Del | DEL | 0.580 | 3 | Gain | - |
TXNDC11 | p.R864Q | Missense | SNP | 0.456 | 2 | - | - |
TXNDC17 | - | - | - | - | 1 | Loss | - |
TXNDC5 | p.R281W | Missense | SNP | 0.195 | 2 | - | - |
TXNIP | - | - | - | - | 3 | Gain | - |
TYW1 | - | - | - | - | 1 | Loss | - |
TYW1B | - | - | - | - | 1 | Loss | - |
U2AF1 | - | - | - | - | 1 | Loss | - |
U2AF1L5 | - | - | - | - | 1 | Loss | - |
UAP1 | - | - | - | - | 4 | Gain | - |
UBAP2L | - | - | - | - | 4 | Gain | - |
UBB | - | - | - | - | 1 | Loss | - |
UBE2D4 | - | - | - | - | 3 | Gain | - |
UBE2G1 | - | - | - | - | 1 | Loss | - |
UBE2H | - | - | - | - | 1 | Loss | - |
UBE2I | - | - | - | - | 3 | Gain | - |
UBE2O | p.H1018Pfs*18 | Frame_Shift_Ins | INS | 0.292 | 2 | - | - |
UBE2Q1 | - | - | - | - | 4 | Gain | - |
UBE2T | - | - | - | - | 4 | Gain | - |
UBE3C | - | - | - | - | 1 | Loss | - |
UBN2 | - | - | - | - | 1 | Loss | - |
UBQLN4 | - | - | - | - | 4 | Gain | - |
UCHL5 | - | - | - | - | 4 | Gain | - |
UCK2 | - | - | - | - | 4 | Gain | - |
UCN | - | - | - | - | 1 | Loss | - |
UFC1 | - | - | - | - | 4 | Gain | - |
UFSP1 | - | - | - | - | 1 | Loss | - |
UGCG | p.L342V | Missense | SNP | 0.519 | 2 | - | - |
UGT1A1 | p.G96R | Missense | SNP | 0.450 | 2 | - | - |
UGT1A8 | p.F117Lfs*17 | Frame_Shift_Del | DEL | 0.421 | 2 | - | - |
UHMK1 | - | - | - | - | 4 | Gain | - |
ULK2 | - | - | - | - | 1 | Loss | - |
UMAD1 | - | - | - | - | 3 | Gain | - |
UMODL1 | p.R152Afs*91 p.A1237T | Frame_Shift_Ins Missense | INS SNP | 0.366 0.107 | 2 | - | - |
UMPS | p.V71M | Missense | SNP | 0.458 | 2 | - | - |
UNC119 | - | - | - | - | 3 | Gain | - |
UNC45A | p.N390I | Missense | SNP | 0.437 | 2 | - | - |
UNC45B | - | - | - | - | 3 | Gain | - |
UNCX | - | - | - | - | 3 | Gain | - |
UNKL | - | - | - | - | 3 | Gain | - |
UPK3B | - | - | - | - | 1 | Loss | - |
UPK3BL1 | - | - | - | - | 1 | Loss | - |
UPP1 | - | - | - | - | 3 | Gain | - |
URB2 | - | - | - | - | 4 | Gain | - |
URGCP | - | - | - | - | 3 | Gain | - |
URGCP-MRPS24 | - | - | - | - | 3 | Gain | - |
USF1 | - | - | - | - | 4 | Gain | - |
USH2A | - | - | - | - | 4 | Gain | - |
USP15 | p.K783Nfs*4 | Frame_Shift_Del | DEL | 0.436 | 2 | - | - |
USP17L4 | - | - | - | - | 1 | Loss | - |
USP21 | - | - | - | - | 4 | Gain | - |
USP22 | - | - | - | - | 1 | Loss | - |
USP32 | p.R703C | Missense | SNP | 0.439 | 2 | - | - |
USP35 | p.T655Pfs*23 | Frame_Shift_Del | DEL | 0.660 | 2 | - | - |
USP42 | - | - | - | - | 3 | Gain | - |
USP43 | p.A871T | Missense | SNP | 0.996 | 1 | Loss | - |
USP6 | - | - | - | - | 1 | Loss | - |
USP7 | p.R1090H | Missense | SNP | 0.429 | 2 | - | - |
UTF1 | p.T110A | Missense | SNP | 0.492 | 2 | - | - |
UTP25 | - | - | - | - | 4 | Gain | - |
UTP6 | - | - | - | - | 3 | Gain | - |
VAMP2 | - | - | - | - | 1 | Loss | - |
VAMP4 | - | - | - | - | 4 | Gain | - |
VANGL2 | - | - | - | - | 4 | Gain | - |
VASH2 | - | - | - | - | 4 | Gain | - |
VASP | p.P206Lfs*62 | Frame_Shift_Del | DEL | 0.470 | 2 | - | - |
VGF | - | - | - | - | 1 | Loss | - |
VHLL | - | - | - | - | 4 | Gain | - |
VILL | p.R772* | Nonsense | SNP | 0.457 | 2 | - | - |
VIPR2 | - | - | - | - | 1 | Loss | - |
VIT | - | - | - | - | 1 | Loss | - |
VKORC1L1 | - | - | - | - | 1 | Loss | - |
VLDLR | p.A753V | Missense | SNP | 0.500 | 2 | - | - |
VMO1 | - | - | - | - | 1 | Loss | - |
VN1R2 | - | - | - | - | 3 | Gain | - |
VN1R4 | - | - | - | - | 3 | Gain | - |
VOPP1 | - | - | - | - | 3 | Gain | - |
VPS37D | - | - | - | - | 1 | Loss | - |
VPS41 | - | - | - | - | 3 | Gain | - |
VPS45 | - | - | - | - | 4 | Gain | - |
VPS50 | - | - | - | - | 1 | Loss | - |
VPS53 | - | - | - | - | 1 | Loss | - |
VPS72 | - | - | - | - | 4 | Gain | - |
VSIG8 | - | - | - | - | 4 | Gain | - |
VSTM2A | - | - | - | - | 3 | Gain | - |
VTN | - | - | - | - | 3 | Gain | - |
VWA8 | - | - | - | - | 1 | Loss | - |
VWC2 | - | - | - | - | 3 | Gain | - |
VWDE | - | - | - | - | 3 | Gain | - |
WASL | - | - | - | - | 1 | Loss | - |
WBP4 | - | - | - | - | 1 | Loss | - |
WDR24 | - | - | - | - | 3 | Gain | - |
WDR26 | - | - | - | - | 4 | Gain | - |
WDR33 | p.R853* | Nonsense | SNP | 0.447 | 2 | - | - |
WDR43 | - | - | - | - | 1 | Loss | - |
WDR60 | - | - | - | - | 1 | Loss | - |
WDR64 | - | - | - | - | 4 | Gain | - |
WDR81 | - | - | - | - | 1 | Loss | - |
WDR86 | - | - | - | - | 1 | Loss | - |
WDR90 | - | - | - | - | 3 | Gain | - |
WDR91 | - | - | - | - | 1 | Loss | - |
WEE2 | - | - | - | - | 1 | Loss | - |
WFIKKN1 | - | - | - | - | 3 | Gain | - |
WHAMM | p.P109Q | Missense | SNP | 0.507 | 2 | - | - |
WIPF2 | - | - | - | - | 3 | Gain | - |
WIPF3 | p.P236Rfs*13 | Frame_Shift_Del | DEL | 0.278 | 3 | Gain | - |
WIPI2 | - | - | - | - | 3 | Gain | - |
WNT16 | - | - | - | - | 1 | Loss | - |
WNT2 | - | - | - | - | 1 | Loss | - |
WNT3A | - | - | - | - | 4 | Gain | - |
WNT9A | - | - | - | - | 4 | Gain | - |
WRAP53 | - | - | - | - | 1 | Loss | - |
WSB1 | - | - | - | - | 3 | Gain | - |
WSCD1 | - | - | - | - | 1 | Loss | - |
XAF1 | - | - | - | - | 1 | Loss | - |
XCL1 | - | - | - | - | 4 | Gain | - |
XCL2 | - | - | - | - | 4 | Gain | - |
XDH | - | - | - | - | 1 | Loss | - |
XPR1 | - | - | - | - | 4 | Gain | - |
XRCC2 | - | - | - | - | 1 | Loss | - |
XXbac-BPG116M5.17 | p.N246D | Missense | SNP | 0.484 | ND | ND | - |
YAE1 | - | - | - | - | 3 | Gain | - |
YBX2 | - | - | - | - | 1 | Loss | - |
YEATS4 | p.G75D | Missense | SNP | 0.414 | 2 | - | - |
YIPF4 | - | - | - | - | 1 | Loss | - |
YKT6 | - | - | - | - | 3 | Gain | - |
YOD1 | - | - | - | - | 4 | Gain | - |
YPEL5 | - | - | - | - | 1 | Loss | - |
YWHAE | - | - | - | - | 1 | Loss | - |
YWHAG | - | - | - | - | 1 | Loss | - |
YY1AP1 | - | - | - | - | 4 | Gain | - |
ZAN | p.T1224I | Missense | SNP | 1.000 | 1 | Loss | - |
ZBED6 | - | - | - | - | 4 | Gain | - |
ZBED6CL | - | - | - | - | 1 | Loss | - |
ZBTB18 | - | - | - | - | 4 | Gain | - |
ZBTB34 | p.R321C | Missense | SNP | 0.468 | 2 | - | - |
ZBTB37 | - | - | - | - | 4 | Gain | - |
ZBTB4 | - | - | - | - | 1 | Loss | - |
ZBTB41 | - | - | - | - | 4 | Gain | - |
ZBTB7B | - | - | - | - | 4 | Gain | - |
ZBTB7C | p.E135Rfs*87 | Frame_Shift_Del | DEL | 0.525 | 2 | - | - |
ZC3H11A | - | - | - | - | 4 | Gain | - |
ZC3H13 | - | - | - | - | 1 | Loss | - |
ZC3HAV1 | - | - | - | - | 1 | Loss | - |
ZC3HAV1L | - | - | - | - | 1 | Loss | - |
ZC3HC1 | - | - | - | - | 1 | Loss | - |
ZCWPW1 | - | - | - | - | 1 | Loss | - |
ZCWPW2 | p.K303N | Missense | SNP | 0.481 | 2 | - | - |
ZDHHC1 | p.T427M | Missense | SNP | 0.481 | 2 | - | - |
ZDHHC18 | p.L100F | Missense | SNP | 0.524 | 2 | - | - |
ZDHHC4 | - | - | - | - | 3 | Gain | - |
ZFAND2A | - | - | - | - | 3 | Gain | - |
ZFHX4 | p.T1266M | Missense | SNP | 0.361 | 2 | - | - |
ZFP3 | - | - | - | - | 1 | Loss | - |
ZFP36L2 | - | - | - | - | 1 | Loss | - |
ZFP82 | p.I55T | Missense | SNP | 0.615 | 2 | - | - |
ZFR | p.E359Kfs*4 | Frame_Shift_Del | DEL | 0.140 | 2 | - | - |
ZGPAT | p.R208H | Missense | SNP | 0.494 | 2 | - | - |
ZKSCAN1 | - | - | - | - | 1 | Loss | - |
ZKSCAN5 | - | - | - | - | 1 | Loss | - |
ZMIZ2 | - | - | - | - | 3 | Gain | - |
ZMYND15 | - | - | - | - | 1 | Loss | - |
ZNF107 | - | - | - | - | 1 | Loss | - |
ZNF117 | - | - | - | - | 1 | Loss | - |
ZNF12 | - | - | - | - | 3 | Gain | - |
ZNF124 | - | - | - | - | 4 | Gain | - |
ZNF135 | p.T174M | Missense | SNP | 0.393 | 2 | - | - |
ZNF138 | - | - | - | - | 1 | Loss | - |
ZNF141 | p.V153F | Missense | SNP | 0.484 | 2 | - | - |
ZNF160 | - | - | - | - | 3 | Gain | - |
ZNF18 | - | - | - | - | 1 | Loss | - |
ZNF202 | p.S146L | Missense | SNP | 0.478 | 2 | - | - |
ZNF207 | - | - | - | - | 3 | Gain | - |
ZNF212 | - | - | - | - | 1 | Loss | - |
ZNF232 | - | - | - | - | 1 | Loss | - |
ZNF273 | - | - | - | - | 1 | Loss | - |
ZNF277 | - | - | - | - | 1 | Loss | - |
ZNF28 | - | - | - | - | 3 | Gain | - |
ZNF281 | - | - | - | - | 4 | Gain | - |
ZNF282 | p.P456H | Missense | SNP | 1.000 | 1 | Loss | - |
ZNF286A | - | - | - | - | 1 | Loss | - |
ZNF286B | - | - | - | - | 1 | Loss | - |
ZNF287 | - | - | - | - | 1 | Loss | - |
ZNF3 | - | - | - | - | 1 | Loss | - |
ZNF316 | - | - | - | - | 3 | Gain | - |
ZNF320 | - | - | - | - | 3 | Gain | - |
ZNF330 | p.C178R | Missense | SNP | 0.500 | 2 | - | - |
ZNF347 | - | - | - | - | 3 | Gain | - |
ZNF385C | - | - | - | - | 3 | Gain | - |
ZNF391 | p.K79N | Missense | SNP | 0.648 | 2 | - | - |
ZNF394 | - | - | - | - | 1 | Loss | - |
ZNF398 | - | - | - | - | 1 | Loss | - |
ZNF415 | - | - | - | - | 3 | Gain | - |
ZNF425 | - | - | - | - | 1 | Loss | - |
ZNF467 | - | - | - | - | 1 | Loss | - |
ZNF468 | p.A291V | Missense | SNP | 0.517 | 3 | Gain | - |
ZNF479 | - | - | - | - | 3 | Gain | - |
ZNF496 | - | - | - | - | 4 | Gain | - |
ZNF507 | p.N815S | Missense | SNP | 0.497 | 2 | - | - |
ZNF512 | - | - | - | - | 1 | Loss | - |
ZNF513 | p.T233Lfs*42 | Frame_Shift_Del | DEL | 0.977 | 1 | Loss | - |
ZNF525 | - | - | - | - | 3 | Gain | - |
ZNF528 | - | - | - | - | 3 | Gain | - |
ZNF534 | - | - | - | - | 3 | Gain | - |
ZNF576 | p.R38C | Missense | SNP | 0.502 | 2 | - | - |
ZNF578 | - | - | - | - | 3 | Gain | - |
ZNF587 | p.R173H | Missense | SNP | 0.296 | 2 | - | - |
ZNF592 | p.Q304P | Missense | SNP | 0.453 | 2 | - | - |
ZNF594 | - | - | - | - | 1 | Loss | - |
ZNF598 | - | - | - | - | 3 | Gain | - |
ZNF600 | p.K281N | Missense | SNP | 0.510 | 3 | Gain | - |
ZNF611 | - | - | - | - | 3 | Gain | - |
ZNF624 | - | - | - | - | 1 | Loss | - |
ZNF629 | p.E490K | Missense | SNP | 0.446 | 2 | - | - |
ZNF648 | - | - | - | - | 4 | Gain | - |
ZNF655 | - | - | - | - | 1 | Loss | - |
ZNF665 | - | - | - | - | 3 | Gain | - |
ZNF669 | - | - | - | - | 4 | Gain | - |
ZNF670 | - | - | - | - | 4 | Gain | - |
ZNF670-ZNF695 | - | - | - | - | 4 | Gain | - |
ZNF672 | - | - | - | - | 4 | Gain | - |
ZNF677 | - | - | - | - | 3 | Gain | - |
ZNF678 | - | - | - | - | 4 | Gain | - |
ZNF679 | - | - | - | - | 1 | Loss | - |
ZNF680 | - | - | - | - | 1 | Loss | - |
ZNF687 | - | - | - | - | 4 | Gain | - |
ZNF692 | - | - | - | - | 4 | Gain | - |
ZNF695 | - | - | - | - | 4 | Gain | - |
ZNF701 | - | - | - | - | 3 | Gain | - |
ZNF713 | - | - | - | - | 3 | Gain | - |
ZNF716 | - | - | - | - | 3 | Gain | - |
ZNF727 | - | - | - | - | 1 | Loss | - |
ZNF735 | - | - | - | - | 1 | Loss | - |
ZNF736 | - | - | - | - | 1 | Loss | - |
ZNF746 | - | - | - | - | 1 | Loss | - |
ZNF761 | - | - | - | - | 3 | Gain | - |
ZNF765 | - | - | - | - | 3 | Gain | - |
ZNF775 | - | - | - | - | 1 | Loss | - |
ZNF777 | - | - | - | - | 1 | Loss | - |
ZNF780A | - | - | - | - | 3 | Gain | - |
ZNF780B | - | - | - | - | 3 | Gain | - |
ZNF783 | - | - | - | - | 1 | Loss | - |
ZNF786 | - | - | - | - | 1 | Loss | - |
ZNF789 | - | - | - | - | 1 | Loss | - |
ZNF800 | - | - | - | - | 1 | Loss | - |
ZNF804B | - | - | - | - | 1 | Loss | - |
ZNF808 | - | - | - | - | 3 | Gain | - |
ZNF813 | - | - | - | - | 3 | Gain | - |
ZNF816 | - | - | - | - | 3 | Gain | - |
ZNF816-ZNF321P | - | - | - | - | 3 | Gain | - |
ZNF83 | - | - | - | - | 3 | Gain | - |
ZNF830 | - | - | - | - | 3 | Gain | - |
ZNF845 | - | - | - | - | 3 | Gain | - |
ZNF853 | - | - | - | - | 3 | Gain | - |
ZNF862 | - | - | - | - | 1 | Loss | - |
ZNF888 | - | - | - | - | 3 | Gain | - |
ZNF92 | - | - | - | - | 1 | Loss | - |
ZNFX1 | p.R900Efs*2 | Frame_Shift_Del | DEL | 0.571 | 2 | - | - |
ZNHIT1 | - | - | - | - | 1 | Loss | - |
ZNHIT3 | - | - | - | - | 3 | Gain | - |
ZNRF2 | - | - | - | - | 3 | Gain | - |
ZP3 | - | - | - | - | 1 | Loss | - |
ZP4 | - | - | - | - | 4 | Gain | - |
ZPBP | - | - | - | - | 3 | Gain | - |
ZPBP2 | - | - | - | - | 3 | Gain | - |
ZPR1 | p.M52T | Missense | SNP | 0.521 | 2 | - | - |
ZSCAN21 | - | - | - | - | 1 | Loss | - |
ZSCAN22 | p.A232V | Missense | SNP | 0.506 | 2 | - | - |
ZSCAN25 | - | - | - | - | 1 | Loss | - |
ZSWIM2 | p.P70L | Missense | SNP | 0.341 | 2 | - | - |
ZSWIM7 | - | - | - | - | 1 | Loss | - |
ZYX | - | - | - | - | 1 | Loss | - |
ZZEF1 | - | - | - | - | 1 | Loss | - |
ZZZ3 | p.R77Q | Missense | SNP | 0.564 | ND | ND | - |