| Variant Type | Calling Status |
|---|---|
| Mutations | Called |
| Copy number | Called |
| Fusions | Called |
| Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
|---|---|---|---|---|---|---|---|
| A2M | p.Y1197Tfs*12 | Frame_Shift_Del | DEL | 0.426 | 2 | - | - |
| A2ML1 | p.Y1438C | Missense | SNP | 0.645 | 2 | - | - |
| A4GNT | p.F23L | Missense | SNP | 0.398 | 2 | - | - |
| AARD | - | - | - | - | 3 | Gain | - |
| ABCA1 | - | - | - | - | 3 | Gain | - |
| ABCA10 | p.X1512_splice | Splice_Site | SNP | 0.550 | 2 | - | - |
| ABCA13 | p.L4357V | Missense | SNP | 0.447 | 2 | - | - |
| ABCA2 | - | - | - | - | 3 | Gain | - |
| ABCA4 | p.G1803C | Missense | SNP | 0.431 | 2 | - | - |
| ABCA7 | p.R825W | Missense | SNP | 0.462 | 2 | - | - |
| ABCB11 | p.G1011V | Missense | SNP | 0.405 | 2 | - | - |
| ABCB4 | p.A531Pfs*27 | Frame_Shift_Del | DEL | 0.425 | 2 | - | - |
| ABCC12 | p.S494* | Nonsense | SNP | 0.520 | 2 | - | - |
| ABCF1 | p.T40Rfs*8 | Frame_Shift_Del | DEL | 0.478 | 2 | - | - |
| ABHD16B | p.V282A | Missense | SNP | 0.429 | 2 | - | - |
| ABHD17A | p.C191R | Missense | SNP | 0.527 | 2 | - | - |
| ABHD17B | - | - | - | - | 3 | Gain | - |
| ABHD18 | p.L342* | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
| ABL1 | p.I422Hfs*42 | Frame_Shift_Ins | INS | 0.334 | 3 | Gain | - |
| ABO | - | - | - | - | 3 | Gain | - |
| AC004754.1 | - | - | - | - | 1 | Loss | - |
| AC100868.1 | - | - | - | - | 3 | Gain | - |
| AC138647.1 | - | - | - | - | 3 | Gain | - |
| AC138696.1 | - | - | - | - | 3 | Gain | - |
| ACER2 | - | - | - | - | 3 | Gain | - |
| ACO1 | - | - | - | - | 3 | Gain | - |
| ACP1 | p.A45T | Missense | SNP | 0.449 | 2 | - | - |
| ACTG2 | p.R29Gfs*16 | Frame_Shift_Del | DEL | 0.455 | 2 | - | - |
| ACTL7A | - | - | - | - | 3 | Gain | - |
| ACTL7B | - | - | - | - | 3 | Gain | - |
| ACTN1 | p.D2Y | Missense | SNP | 0.377 | 2 | - | - |
| ACTRT2 | p.S159N | Missense | SNP | 0.521 | 2 | - | - |
| ACVR2A | p.K437Rfs*5 | Frame_Shift_Del | DEL | 0.916 | 2 | - | - |
| ACY3 | p.P260S | Missense | SNP | 0.451 | 2 | - | - |
| ADAM11 | p.F146S | Missense | SNP | 0.481 | 2 | - | - |
| ADAM19 | p.X437_splice | Splice_Site | SNP | 0.400 | 2 | - | - |
| ADAM21 | p.L684Cfs*3 | Frame_Shift_Del | DEL | 0.634 | 2 | - | - |
| ADAM33 | p.H128Pfs*34 | Frame_Shift_Ins | INS | 0.308 | 2 | - | - |
| ADAMTS12 | p.H928Y | Missense | SNP | 0.690 | 2 | - | - |
| ADAMTS13 | - | - | - | - | 3 | Gain | - |
| ADAMTS16 | p.H380R | Missense | SNP | 0.402 | 2 | - | - |
| ADAMTS19 | p.N949Kfs*8 | Frame_Shift_Ins | INS | 0.336 | 2 | - | - |
| ADAMTSL1 | - | - | - | - | 3 | Gain | - |
| ADAMTSL2 | p.P562H | Missense | SNP | 0.244 | 3 | Gain | - |
| ADAMTSL3 | p.R1291I | Missense | SNP | 0.505 | 2 | - | - |
| ADCK5 | - | - | - | - | 3 | Gain | - |
| ADCY1 | p.R835C | Missense | SNP | 0.493 | 2 | - | - |
| ADCY2 | p.R30Q p.A694V | Missense Missense | SNP SNP | 0.432 0.622 | 2 | - | - |
| ADCY8 | - | - | - | - | 3 | Gain | - |
| ADGRB1 | p.E1549G | Missense | SNP | 0.626 | 3 | Gain | - |
| ADGRD2 | - | - | - | - | 3 | Gain | - |
| ADGRL1 | p.V292M | Missense | SNP | 0.404 | 2 | - | - |
| ADGRV1 | p.Q1275H | Missense | SNP | 0.500 | 2 | - | - |
| ADNP2 | p.G966Vfs*3 | Frame_Shift_Del | DEL | 0.970 | 2 | - | - |
| ADORA2A | p.A265S | Missense | SNP | 0.518 | 2 | - | - |
| AFAP1L2 | p.A574T | Missense | SNP | 0.436 | 2 | - | - |
| AGBL5 | p.K423Qfs*28 | Frame_Shift_Ins | INS | 0.346 | 2 | - | - |
| AGK | p.P57S | Missense | SNP | 0.427 | 2 | - | - |
| AGO2 | - | - | - | - | 3 | Gain | - |
| AGPAT2 | - | - | - | - | 3 | Gain | - |
| AGT | p.T20N | Missense | SNP | 0.604 | 2 | - | - |
| AGTPBP1 | - | - | - | - | 3 | Gain | - |
| AGTR2 | p.F134Lfs*5 | Frame_Shift_Del | DEL | 0.932 | ND | ND | - |
| AIF1L | - | - | - | - | 3 | Gain | - |
| AIFM1 | p.G103W | Missense | SNP | 1.000 | ND | ND | - |
| AIM1 | p.R1310* | Nonsense | SNP | 0.595 | ND | ND | - |
| AIM1L | p.G1484Afs*27 | Frame_Shift_Del | DEL | 0.524 | ND | ND | - |
| AJM1 | - | - | - | - | 3 | Gain | - |
| AK1 | - | - | - | - | 3 | Gain | - |
| AK3 | - | - | - | - | 3 | Gain | - |
| AK8 | - | - | - | - | 3 | Gain | - |
| AK9 | p.R1209Gfs*39 | Frame_Shift_Del | DEL | 0.571 | 2 | - | - |
| AKAP12 | p.T949Rfs*23 | Frame_Shift_Del | DEL | 0.176 | 2 | - | - |
| AKAP2 | - | - | - | - | 3 | Gain | - |
| AKAP7 | p.G186del | In_Frame_Del | DEL | 0.350 | 2 | - | - |
| AKNA | p.G792Efs*49 | Frame_Shift_Del | DEL | 0.505 | 3 | Gain | - |
| AKR1B1 | p.R269H | Missense | SNP | 0.433 | 2 | - | - |
| AKR1E2 | p.S226P | Missense | SNP | 0.294 | 2 | - | - |
| AKR7A3 | p.A301T | Missense | SNP | 0.644 | 2 | - | - |
| AKT3 | p.R220H | Missense | SNP | 0.490 | 2 | - | - |
| AL133410.3 | - | - | - | - | 3 | Gain | - |
| AL138752.2 | - | - | - | - | 3 | Gain | - |
| AL157935.2 | - | - | - | - | 3 | Gain | - |
| AL160269.1 | - | - | - | - | 3 | Gain | - |
| AL160272.2 | - | - | - | - | 3 | Gain | - |
| AL162231.1 | - | - | - | - | 3 | Gain | - |
| AL162231.3 | - | - | - | - | 3 | Gain | - |
| AL162417.1 | - | - | - | - | 3 | Gain | - |
| AL355987.1 | - | - | - | - | 3 | Gain | - |
| AL355987.3 | - | - | - | - | 3 | Gain | - |
| AL358113.1 | - | - | - | - | 3 | Gain | - |
| AL359922.1 | - | - | - | - | 3 | Gain | - |
| AL513165.2 | - | - | - | - | 3 | Gain | - |
| AL672142.1 | - | - | - | - | 3 | Gain | - |
| AL807752.6 | - | - | - | - | 3 | Gain | - |
| AL807752.7 | - | - | - | - | 3 | Gain | - |
| AL929554.1 | - | - | - | - | 3 | Gain | - |
| ALAD | - | - | - | - | 3 | Gain | - |
| ALAS1 | p.R465W | Missense | SNP | 0.513 | 2 | - | - |
| ALDH1A1 | - | - | - | - | 3 | Gain | - |
| ALDH1A3 | p.R93W | Missense | SNP | 0.478 | 2 | - | - |
| ALDH1B1 | - | - | - | - | 3 | Gain | - |
| ALDOB | - | - | - | - | 3 | Gain | - |
| ALG11 | p.Y18Ifs*35 p.G421Afs*14 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.450 0.430 | 2 | - | - |
| ALG2 | - | - | - | - | 3 | Gain | - |
| ALKBH1 | p.T266Rfs*11 | Frame_Shift_Del | DEL | 0.336 | 2 | - | - |
| ALKBH8 | p.K602T | Missense | SNP | 0.609 | 2 | - | - |
| ALOX5 | p.M460I | Missense | SNP | 0.524 | 2 | - | - |
| ALPK3 | p.K970Nfs*12 | Frame_Shift_Del | DEL | 0.451 | 2 | - | - |
| ALS2 | p.L625* | Frame_Shift_Del | DEL | 0.436 | 2 | - | - |
| AMBP | - | - | - | - | 3 | Gain | - |
| AMZ1 | p.I160M | Missense | SNP | 0.397 | 2 | - | - |
| ANAPC2 | - | - | - | - | 3 | Gain | - |
| ANGPTL2 | - | - | - | - | 3 | Gain | - |
| ANKAR | p.A1274D | Missense | SNP | 0.396 | 2 | - | - |
| ANKEF1 | p.M260V | Missense | SNP | 0.411 | 2 | - | - |
| ANKRD18A | - | - | - | - | 3 | Gain | - |
| ANKRD18B | - | - | - | - | 3 | Gain | - |
| ANKRD23 | p.K58del | In_Frame_Del | DEL | 0.400 | 2 | - | - |
| ANKRD27 | p.I94T | Missense | SNP | 0.472 | 2 | - | - |
| ANKRD49 | p.M70Wfs*32 | Frame_Shift_Del | DEL | 0.450 | 2 | - | - |
| ANKRD52 | p.L708del p.T756M | In_Frame_Del Missense | DEL SNP | 0.277 0.530 | 2 | - | - |
| ANKRD53 | p.S422G | Missense | SNP | 0.427 | 2 | - | - |
| ANKS6 | - | - | - | - | 3 | Gain | - |
| ANKZF1 | p.P353H | Missense | SNP | 0.630 | 2 | - | - |
| ANO2 | p.P131L | Missense | SNP | 0.467 | 2 | - | - |
| ANO5 | p.D157V | Missense | SNP | 0.512 | 2 | - | - |
| ANO8 | p.T643A | Missense | SNP | 0.452 | 2 | - | - |
| ANP32B | - | - | - | - | 3 | Gain | - |
| ANXA1 | - | - | - | - | 3 | Gain | - |
| ANXA13 | - | - | - | - | 3 | Gain | - |
| ANXA2 | p.Y42H | Missense | SNP | 0.524 | 2 | - | - |
| AOAH | p.S155I | Missense | SNP | 0.539 | 2 | - | - |
| AOC3 | p.C41R | Missense | SNP | 0.371 | 2 | - | - |
| AP2B1 | p.A785V | Missense | SNP | 0.390 | 2 | - | - |
| AP3B1 | - | - | - | - | 1 | Loss | - |
| AP3M2 | p.L323P | Missense | SNP | 0.447 | 2 | - | - |
| APBA1 | - | - | - | - | 3 | Gain | - |
| APBA2 | p.P630A | Missense | SNP | 0.467 | 2 | - | - |
| APC2 | p.L1016Pfs*74 | Frame_Shift_Ins | INS | 0.289 | 2 | - | - |
| APOE | p.V65A | Missense | SNP | 0.286 | 2 | - | - |
| APTX | - | - | - | - | 3 | Gain | - |
| AQP1 | p.M96I | Missense | SNP | 0.528 | 2 | - | - |
| AQP3 | - | - | - | - | 3 | Gain | - |
| AQP7 | - | - | - | - | 3 | Gain | - |
| ARC | - | - | - | - | 3 | Gain | - |
| AREG | p.C252Vfs*31 | Frame_Shift_Del | DEL | 0.609 | 2 | - | - |
| ARFGEF3 | p.E1459D | Missense | SNP | 0.564 | 2 | - | - |
| ARGLU1 | p.R141Gfs*61 | Frame_Shift_Del | DEL | 0.423 | 2 | - | - |
| ARHGAP1 | p.L237Cfs*135 | Frame_Shift_Del | DEL | 0.402 | 2 | - | - |
| ARHGAP15 | p.Q382R | Missense | SNP | 0.469 | 2 | - | - |
| ARHGAP22 | p.S698Rfs*3 | Frame_Shift_Del | DEL | 0.117 | 2 | - | - |
| ARHGAP29 | p.S882A | Missense | SNP | 0.557 | 2 | - | - |
| ARHGAP30 | p.A675T | Missense | SNP | 0.428 | 2 | - | - |
| ARHGAP39 | - | - | - | - | 3 | Gain | - |
| ARHGAP44 | p.R483C | Missense | SNP | 0.541 | 2 | - | - |
| ARHGDIG | - | - | - | - | 1 | Loss | - |
| ARHGEF39 | - | - | - | - | 3 | Gain | - |
| ARID1A | p.L1176Ifs*17 p.D1850Tfs*33 | Frame_Shift_Ins Frame_Shift_Del | INS DEL | 0.301 0.488 | 2 | - | - |
| ARID3C | - | - | - | - | 3 | Gain | - |
| ARMS2 | - | - | - | - | 1 | Loss | - |
| ARPC5L | - | - | - | - | 3 | Gain | - |
| ARRB2 | p.P90Rfs*17 | Frame_Shift_Del | DEL | 0.307 | 2 | - | - |
| ARRDC1 | - | - | - | - | 3 | Gain | - |
| ARSD | p.Q117R | Missense | SNP | 1.000 | ND | ND | - |
| ARTN | p.E46D | Missense | SNP | 0.435 | 2 | - | - |
| ASAP1 | - | - | - | - | 3 | Gain | - |
| ASAP2 | p.Q818* | Nonsense | SNP | 0.503 | 2 | - | - |
| ASB6 | - | - | - | - | 3 | Gain | - |
| ASCC3 | p.F163Lfs*5 p.R1762C | Frame_Shift_Del Missense | DEL SNP | 0.400 0.627 | 2 | - | - |
| ASCL4 | p.V143A | Missense | SNP | 0.506 | 2 | - | - |
| ASPN | - | - | - | - | 3 | Gain | - |
| ASS1 | - | - | - | - | 3 | Gain | - |
| ASTN2 | - | - | - | - | 3 | Gain | - |
| ASXL2 | p.M590V | Missense | SNP | 0.518 | 2 | - | - |
| ATAD2 | - | - | - | - | 3 | Gain | - |
| ATF5 | p.P131L | Missense | SNP | 0.600 | 2 | - | - |
| ATG2B | p.G1924V p.S379F | Missense Missense | SNP SNP | 0.362 0.536 | 2 | - | - |
| ATHL1 | p.P185Qfs*3 | Frame_Shift_Del | DEL | 0.388 | ND | ND | - |
| ATP10A | p.X283_splice | Splice_Site | SNP | 0.400 | 2 | - | - |
| ATP12A | p.R496C | Missense | SNP | 0.364 | 2 | - | - |
| ATP2A3 | p.A374V | Missense | SNP | 0.508 | 2 | - | - |
| ATP2C2 | p.V810A | Missense | SNP | 0.509 | 2 | - | - |
| ATP6AP1L | p.G133Dfs*18 | Frame_Shift_Del | DEL | 0.425 | 2 | - | - |
| ATP6V1C1 | p.D49Y | Missense | SNP | 0.435 | 2 | - | - |
| ATP6V1G1 | - | - | - | - | 3 | Gain | - |
| ATP7B | p.X1341_splice | Splice_Site | SNP | 0.568 | 2 | - | - |
| ATP8B1 | p.N205Kfs*2 | Frame_Shift_Ins | INS | 0.425 | 2 | - | - |
| ATXN1 | p.F651Lfs*40 | Frame_Shift_Del | DEL | 0.588 | 2 | - | - |
| ATXN8OS | - | - | - | - | ND | ND | ATXN8OS--RPL14P1 |
| AUH | - | - | - | - | 3 | Gain | - |
| AUTS2 | p.V97A | Missense | SNP | 0.441 | 2 | - | - |
| AXDND1 | p.E994Q | Missense | SNP | 0.482 | 2 | - | - |
| AXIN1 | p.V835Wfs*103 | Frame_Shift_Del | DEL | 0.897 | 1 | Loss | - |
| AXIN2 | p.R671Afs*18 | Frame_Shift_Del | DEL | 0.241 | 2 | - | - |
| B3GLCT | p.S80Afs*3 | Frame_Shift_Del | DEL | 0.492 | 2 | - | - |
| B4GALNT4 | p.R307Vfs*100 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
| B4GALT1 | - | - | - | - | 3 | Gain | - |
| BAAT | - | - | - | - | 3 | Gain | - |
| BAG1 | - | - | - | - | 3 | Gain | - |
| BAHCC1 | p.A553V p.L2483R | Missense Missense | SNP SNP | 0.457 0.560 | 2 | - | - |
| BAHD1 | p.R678H | Missense | SNP | 0.450 | 2 | - | - |
| BARHL1 | - | - | - | - | 3 | Gain | - |
| BARX1 | - | - | - | - | 3 | Gain | - |
| BAX | p.E41Gfs*20 | Frame_Shift_Ins | INS | 0.228 | 2 | - | - |
| BAZ1A | p.L1455* | Frame_Shift_Del | DEL | 0.497 | 2 | - | - |
| BCL11A | p.S767N p.Q371R | Missense Missense | SNP SNP | 0.432 0.451 | 2 | - | - |
| BCL6B | p.Y275Lfs*16 | Frame_Shift_Ins | INS | 0.343 | 2 | - | - |
| BCL9 | p.G1278D | Missense | SNP | 0.559 | 2 | - | - |
| BCL9L | p.P1128Tfs*42 | Frame_Shift_Ins | INS | 0.190 | 2 | - | - |
| BEAN1 | p.H77R | Missense | SNP | 0.390 | 2 | - | - |
| BICD1 | p.T93M | Missense | SNP | 0.385 | 2 | - | - |
| BICD2 | - | - | - | - | 3 | Gain | - |
| BLM | p.K1217Nfs*62 | Frame_Shift_Del | DEL | 0.441 | 2 | - | - |
| BMPR2 | p.K457Nfs*17 p.N583Tfs*44 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.640 0.455 | 2 | - | - |
| BNC2 | p.R351W | Missense | SNP | 0.374 | 3 | Gain | - |
| BNIP1 | p.F76Lfs*3 | Frame_Shift_Del | DEL | 0.286 | 2 | - | - |
| BOP1 | p.N634del | In_Frame_Del | DEL | 0.309 | 3 | Gain | - |
| BPIFB4 | p.P73Qfs*160 | Frame_Shift_Del | DEL | 0.919 | 2 | - | - |
| BRAF | p.V600E | Missense | SNP | 0.185 | 2 | - | - |
| BRAP | p.D523Ifs*79 | Frame_Shift_Del | DEL | 0.503 | 2 | - | - |
| BRCA2 | p.V1862* | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
| BRD2 | p.L357* | Frame_Shift_Del | DEL | 0.503 | 2 | - | - |
| BRD3 | - | - | - | - | 3 | Gain | - |
| BRF1 | p.S553R | Missense | SNP | 0.520 | 2 | - | - |
| BRINP1 | - | - | - | - | 3 | Gain | - |
| BRIX1 | p.I64T | Missense | SNP | 0.308 | 2 | - | - |
| BRWD1 | p.T1816Pfs*4 p.K2148T | Frame_Shift_Del Missense | DEL SNP | 0.456 0.492 | 2 | - | - |
| BRWD3 | p.R1707Efs*12 | Frame_Shift_Ins | INS | 0.466 | ND | ND | - |
| BSCL2 | p.G325Afs*75 | Frame_Shift_Del | DEL | 0.516 | 2 | - | - |
| BSDC1 | p.G94W | Missense | SNP | 0.257 | 2 | - | - |
| BSN | p.R489S | Missense | SNP | 0.537 | 2 | - | - |
| BSPRY | - | - | - | - | 3 | Gain | - |
| BTBD16 | - | - | - | - | 1 | Loss | - |
| BTBD7 | p.N566Mfs*22 p.Y324Ifs*22 | Frame_Shift_Del Frame_Shift_Ins | DEL INS | 0.463 0.350 | 2 | - | - |
| BUB1 | p.A714V | Missense | SNP | 0.421 | 2 | - | - |
| BVES | p.L228Ffs*20 | Frame_Shift_Ins | INS | 0.417 | 2 | - | - |
| C11orf57 | p.K161Sfs*20 | Frame_Shift_Del | DEL | 0.444 | ND | ND | - |
| C12orf66 | p.A248V | Missense | SNP | 0.535 | 2 | - | - |
| C14orf159 | p.X482_splice | Splice_Site | SNP | 0.562 | ND | ND | - |
| C16orf62 | p.X876_splice | Splice_Site | SNP | 0.567 | ND | ND | - |
| C17orf75 | p.L155* | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
| C17orf97 | p.D238N | Missense | SNP | 0.480 | 2 | - | - |
| C19orf68 | p.R318H | Missense | SNP | 0.310 | ND | ND | - |
| C19orf70 | p.A73Pfs*39 | Frame_Shift_Del | DEL | 0.417 | 2 | - | - |
| C1orf141 | p.D10A | Missense | SNP | 0.511 | 2 | - | - |
| C1orf43 | p.D83del | In_Frame_Del | DEL | 0.451 | 2 | - | - |
| C21orf59 | p.G180V | Missense | SNP | 0.488 | ND | ND | - |
| C22orf31 | p.Q117R | Missense | SNP | 0.435 | 2 | - | - |
| C2orf42 | p.K410Nfs*38 | Frame_Shift_Del | DEL | 0.391 | 2 | - | - |
| C2orf71 | p.R1047* | Nonsense | SNP | 0.700 | ND | ND | - |
| C2orf78 | p.A474V | Missense | SNP | 0.466 | 2 | - | - |
| C5 | - | - | - | - | 3 | Gain | - |
| C6orf132 | p.P277Rfs*240 | Frame_Shift_Del | DEL | 0.453 | 2 | - | - |
| C6orf89 | p.Q61Afs*10 | Frame_Shift_Ins | INS | 0.270 | 2 | - | - |
| C8G | - | - | - | - | 3 | Gain | - |
| C8orf33 | - | - | - | - | 3 | Gain | - |
| C8orf76 | - | - | - | - | 3 | Gain | - |
| C8orf82 | - | - | - | - | 3 | Gain | - |
| C9orf116 | - | - | - | - | 3 | Gain | - |
| C9orf129 | - | - | - | - | 3 | Gain | - |
| C9orf131 | - | - | - | - | 3 | Gain | - |
| C9orf135 | - | - | - | - | 3 | Gain | - |
| C9orf152 | - | - | - | - | 3 | Gain | - |
| C9orf153 | - | - | - | - | 3 | Gain | - |
| C9orf16 | - | - | - | - | 3 | Gain | - |
| C9orf24 | - | - | - | - | 3 | Gain | - |
| C9orf3 | - | - | - | - | 3 | Gain | - |
| C9orf40 | - | - | - | - | 3 | Gain | - |
| C9orf43 | - | - | - | - | 3 | Gain | - |
| C9orf50 | - | - | - | - | 3 | Gain | - |
| C9orf57 | - | - | - | - | 3 | Gain | - |
| C9orf64 | - | - | - | - | 3 | Gain | - |
| C9orf66 | - | - | - | - | 3 | Gain | - |
| C9orf72 | - | - | - | - | 3 | Gain | - |
| C9orf78 | - | - | - | - | 3 | Gain | - |
| C9orf84 | - | - | - | - | 3 | Gain | - |
| C9orf85 | - | - | - | - | 3 | Gain | - |
| C9orf92 | - | - | - | - | 3 | Gain | - |
| CA9 | - | - | - | - | 3 | Gain | - |
| CAAP1 | p.D265N | Missense | SNP | 0.314 | 3 | Gain | - |
| CACFD1 | - | - | - | - | 3 | Gain | - |
| CACNA1A | p.L343Sfs*10 | Frame_Shift_Del | DEL | 0.324 | 2 | - | - |
| CACNA1B | p.F1309Sfs*48 | Frame_Shift_Del | DEL | 0.277 | 3 | Gain | - |
| CACNA1C | p.Q1069R p.G2071V | Missense Missense | SNP SNP | 0.623 0.460 | 2 | - | - |
| CACNA1D | p.L1536M | Missense | SNP | 0.371 | 2 | - | - |
| CACNA1F | p.C1151Y | Missense | SNP | 1.000 | ND | ND | - |
| CACNA1G | p.G2232Wfs*33 p.V96M | Frame_Shift_Ins Missense | INS SNP | 0.298 0.509 | 2 | - | - |
| CACNA1I | p.H1091Mfs*43 | Frame_Shift_Del | DEL | 0.406 | 2 | - | - |
| CALHM2 | p.T32A | Missense | SNP | 0.504 | 2 | - | - |
| CALY | p.D167Y | Missense | SNP | 0.481 | 2 | - | - |
| CAMSAP1 | - | - | - | - | 3 | Gain | - |
| CAMTA1 | p.K1589Nfs*33 p.A810V | Frame_Shift_Del Missense | DEL SNP | 0.390 0.410 | 2 | - | - |
| CAPN3 | p.G308C | Missense | SNP | 0.525 | 2 | - | - |
| CAPN9 | p.Q27K | Missense | SNP | 0.380 | 2 | - | - |
| CAPS | p.M90Cfs*24 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
| CAPZB | p.R44C | Missense | SNP | 0.394 | 2 | - | - |
| CARD11 | p.Q288H | Missense | SNP | 0.425 | 2 | - | - |
| CARD19 | - | - | - | - | 3 | Gain | - |
| CARD9 | - | - | - | - | 3 | Gain | - |
| CARF | p.T716Lfs*25 | Frame_Shift_Del | DEL | 0.569 | 2 | - | - |
| CARMIL3 | p.E269K | Missense | SNP | 0.459 | 2 | - | - |
| CARNMT1 | - | - | - | - | 3 | Gain | - |
| CASZ1 | p.A806T | Missense | SNP | 0.534 | 2 | - | - |
| CAVIN4 | - | - | - | - | 3 | Gain | - |
| CBL | p.P828L | Missense | SNP | 0.452 | 2 | - | - |
| CBLB | p.R412H | Missense | SNP | 0.500 | 2 | - | - |
| CBLC | p.L230P | Missense | SNP | 0.404 | 2 | - | - |
| CBWD1 | - | - | - | - | 3 | Gain | - |
| CBWD3 | - | - | - | - | 3 | Gain | - |
| CBWD5 | - | - | - | - | 3 | Gain | - |
| CBWD6 | - | - | - | - | 3 | Gain | - |
| CBX4 | p.X83_splice | Splice_Site | SNP | 0.527 | 2 | - | - |
| CC2D1A | p.G303Vfs*131 p.M884T | Frame_Shift_Del Missense | DEL SNP | 0.511 0.637 | 2 | - | - |
| CCDC107 | - | - | - | - | 3 | Gain | - |
| CCDC166 | - | - | - | - | 3 | Gain | - |
| CCDC168 | p.F7017Lfs*25 | Frame_Shift_Del | DEL | 0.888 | 2 | - | - |
| CCDC171 | - | - | - | - | 3 | Gain | - |
| CCDC180 | p.Q1564R | Missense | SNP | 0.157 | 3 | Gain | - |
| CCDC183 | - | - | - | - | 3 | Gain | - |
| CCDC88B | p.X1311_splice | Splice_Site | SNP | 0.484 | 2 | - | - |
| CCDC93 | p.K571E p.Q415L | Missense Missense | SNP SNP | 0.421 0.500 | 2 | - | - |
| CCIN | - | - | - | - | 3 | Gain | - |
| CCL19 | - | - | - | - | 3 | Gain | - |
| CCL21 | - | - | - | - | 3 | Gain | - |
| CCL27 | - | - | - | - | 3 | Gain | - |
| CCNH | p.A216V | Missense | SNP | 0.667 | 2 | - | - |
| CCSER2 | p.S985Qfs*14 | Frame_Shift_Del | DEL | 0.512 | 2 | - | - |
| CCT2 | p.X526_splice | Splice_Site | SNP | 0.548 | 2 | - | - |
| CD163L1 | p.I886Hfs*35 | Frame_Shift_Ins | INS | 0.327 | 2 | - | - |
| CD180 | p.L58Wfs*20 | Frame_Shift_Del | DEL | 0.267 | 2 | - | - |
| CD1D | p.Y262H | Missense | SNP | 0.471 | 2 | - | - |
| CD200 | p.R201W | Missense | SNP | 0.566 | 2 | - | - |
| CD274 | - | - | - | - | 3 | Gain | - |
| CD40 | p.I204F | Missense | SNP | 0.441 | 2 | - | - |
| CD58 | p.R80M | Missense | SNP | 0.533 | 2 | - | - |
| CD72 | - | - | - | - | 3 | Gain | - |
| CD79A | p.K141N | Missense | SNP | 0.451 | 2 | - | - |
| CD82 | p.V100M | Missense | SNP | 0.567 | 2 | - | - |
| CD93 | p.E121Rfs*79 | Frame_Shift_Del | DEL | 0.659 | 2 | - | - |
| CDADC1 | p.E204G | Missense | SNP | 0.547 | 2 | - | - |
| CDC14B | - | - | - | - | 3 | Gain | - |
| CDC26 | - | - | - | - | 3 | Gain | - |
| CDC37L1 | - | - | - | - | 3 | Gain | - |
| CDC42BPG | p.L498P | Missense | SNP | 0.441 | 2 | - | - |
| CDH22 | p.G625S | Missense | SNP | 0.523 | 2 | - | - |
| CDH23 | p.T997M | Missense | SNP | 0.477 | 2 | - | - |
| CDHR2 | p.D54E | Missense | SNP | 0.381 | 2 | - | - |
| CDK12 | p.P565H | Missense | SNP | 0.442 | 2 | - | - |
| CDK20 | - | - | - | - | 3 | Gain | - |
| CDK5R1 | p.S122Lfs*29 | Frame_Shift_Ins | INS | 0.328 | 2 | - | - |
| CDK5RAP2 | p.K471Nfs*8 | Frame_Shift_Del | DEL | 0.178 | 3 | Gain | - |
| CDK9 | - | - | - | - | 3 | Gain | - |
| CDKN1A | p.T55A | Missense | SNP | 0.439 | 2 | - | - |
| CDKN2A | - | - | - | - | 3 | Gain | - |
| CDKN2B | - | - | - | - | 3 | Gain | - |
| CDNF | p.K115R | Missense | SNP | 0.490 | 2 | - | - |
| CDPF1 | p.N33Tfs*14 | Frame_Shift_Del | DEL | 0.416 | 2 | - | - |
| CECR2 | p.N658Qfs*5 | Frame_Shift_Ins | INS | 0.309 | 2 | - | - |
| CECR6 | p.A288S | Missense | SNP | 0.421 | ND | ND | - |
| CEL | p.V607Rfs*6 | Frame_Shift_Ins | INS | 0.193 | 3 | Gain | - |
| CELF2 | p.A272V | Missense | SNP | 0.510 | 2 | - | - |
| CELF4 | p.Y102H | Missense | SNP | 0.548 | 2 | - | - |
| CELSR1 | p.E2221A | Missense | SNP | 0.460 | 2 | - | - |
| CEMIP2 | - | - | - | - | 3 | Gain | - |
| CENPP | - | - | - | - | 3 | Gain | - |
| CEP112 | p.Q899R | Missense | SNP | 0.433 | 2 | - | - |
| CEP162 | p.F406Lfs*8 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
| CEP78 | - | - | - | - | 3 | Gain | - |
| CER1 | - | - | - | - | 3 | Gain | - |
| CERCAM | - | - | - | - | 3 | Gain | - |
| CERS3 | p.A103S | Missense | SNP | 0.438 | 2 | - | - |
| CES2 | p.T296M | Missense | SNP | 0.472 | 2 | - | - |
| CFAP157 | - | - | - | - | 3 | Gain | - |
| CFAP206 | p.N477Ifs*4 | Frame_Shift_Del | DEL | 0.517 | 2 | - | - |
| CFAP77 | - | - | - | - | 3 | Gain | - |
| CFHR5 | p.R385Gfs*17 | Frame_Shift_Del | DEL | 0.286 | 2 | - | - |
| CHD3 | p.E1711Gfs*30 | Frame_Shift_Ins | INS | 0.320 | 2 | - | - |
| CHD6 | p.E1346D | Missense | SNP | 0.490 | 2 | - | - |
| CHFR | p.R639Pfs*2 p.P535Rfs*16 | Frame_Shift_Ins Frame_Shift_Del | INS DEL | 0.314 0.464 | 2 | - | - |
| CHMP5 | - | - | - | - | 3 | Gain | - |
| CHPT1 | p.F162Sfs*23 | Frame_Shift_Del | DEL | 0.428 | 2 | - | - |
| CHRAC1 | - | - | - | - | 3 | Gain | - |
| CIC | p.T1568A | Missense | SNP | 0.368 | 2 | - | - |
| CIITA | p.F119Sfs*2 | Frame_Shift_Del | DEL | 0.548 | 2 | - | - |
| CIZ1 | - | - | - | - | 3 | Gain | - |
| CKS2 | - | - | - | - | 3 | Gain | - |
| CLEC3A | p.E201K | Missense | SNP | 0.719 | 2 | - | - |
| CLIC3 | p.G105S | Missense | SNP | 0.291 | 3 | Gain | - |
| CLOCK | p.L123* | Frame_Shift_Del | DEL | 0.227 | 2 | - | - |
| CLPP | p.A10Gfs*65 | Frame_Shift_Ins | INS | 0.329 | 2 | - | - |
| CLRN1 | p.P31S | Missense | SNP | 0.463 | 2 | - | - |
| CLTA | - | - | - | - | 3 | Gain | - |
| CMYA5 | p.S781* | Nonsense | SNP | 0.403 | 2 | - | - |
| CNNM1 | p.A2V | Missense | SNP | 0.464 | 2 | - | - |
| CNTFR | - | - | - | - | 3 | Gain | - |
| CNTLN | p.A72Gfs*51 | Frame_Shift_Ins | INS | 0.225 | 3 | Gain | - |
| CNTN6 | p.K418Sfs*63 p.A908E | Frame_Shift_Del Missense | DEL SNP | 0.475 0.448 | 2 | - | - |
| CNTNAP3 | - | - | - | - | 3 | Gain | - |
| CNTNAP3B | - | - | - | - | 3 | Gain | - |
| CNTNAP3C | - | - | - | - | 3 | Gain | - |
| CNTRL | - | - | - | - | 3 | Gain | - |
| CNTROB | p.S45R | Missense | SNP | 0.599 | 2 | - | - |
| COG1 | p.E726A | Missense | SNP | 0.448 | 2 | - | - |
| COL11A1 | p.P474Qfs*20 | Frame_Shift_Del | DEL | 0.467 | 2 | - | - |
| COL12A1 | p.H2649Tfs*6 | Frame_Shift_Del | DEL | 0.562 | 2 | - | - |
| COL13A1 | p.E543Rfs*51 | Frame_Shift_Del | DEL | 0.469 | 2 | - | - |
| COL14A1 | - | - | - | - | 3 | Gain | - |
| COL15A1 | - | - | - | - | 3 | Gain | - |
| COL22A1 | - | - | - | - | 3 | Gain | - |
| COL27A1 | - | - | - | - | 3 | Gain | - |
| COL4A4 | p.G737E | Missense | SNP | 0.436 | 2 | - | - |
| COL4A6 | p.T1623I | Missense | SNP | 1.000 | ND | ND | - |
| COL5A1 | - | - | - | - | 3 | Gain | - |
| COL6A5 | p.F1867Lfs*50 | Frame_Shift_Del | DEL | 0.492 | 2 | - | - |
| COL7A1 | p.G2251W | Missense | SNP | 0.518 | 2 | - | - |
| COL8A1 | p.G672Afs*14 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
| COL9A3 | p.A542V | Missense | SNP | 0.316 | 2 | - | - |
| COLEC10 | - | - | - | - | 3 | Gain | - |
| COMMD5 | - | - | - | - | 3 | Gain | - |
| COPE | p.V189Sfs*55 | Frame_Shift_Del | DEL | 0.613 | 2 | - | - |
| COQ10B | p.S183Qfs*23 | Frame_Shift_Del | DEL | 0.426 | 2 | - | - |
| COQ4 | - | - | - | - | 3 | Gain | - |
| CORO2A | - | - | - | - | 3 | Gain | - |
| CPE | p.A11T | Missense | SNP | 0.579 | 2 | - | - |
| CPS1 | p.R912Gfs*26 | Frame_Shift_Del | DEL | 0.375 | 2 | - | - |
| CPSF1 | - | - | - | - | 3 | Gain | - |
| CPVL | p.K265Sfs*11 | Frame_Shift_Del | DEL | 0.462 | 2 | - | - |
| CPXM1 | p.F694Ifs*47 | Frame_Shift_Ins | INS | 0.307 | 2 | - | - |
| CR1 | p.I1796M | Missense | SNP | 0.452 | 2 | - | - |
| CR2 | p.P27L | Missense | SNP | 0.521 | 2 | - | - |
| CRAT | - | - | - | - | 3 | Gain | - |
| CRB2 | - | - | - | - | 3 | Gain | - |
| CREB3 | - | - | - | - | 3 | Gain | - |
| CREBBP | p.I1084Sfs*15 | Frame_Shift_Del | DEL | 0.590 | 2 | - | - |
| CROT | p.C43Y | Missense | SNP | 0.444 | 2 | - | - |
| CRYBG3 | p.L2804Ffs*10 | Frame_Shift_Ins | INS | 0.325 | 2 | - | - |
| CRYM | p.F34L | Missense | SNP | 0.562 | 2 | - | - |
| CSF2 | p.G85Afs*10 | Frame_Shift_Del | DEL | 0.487 | 2 | - | - |
| CSMD1 | p.K3550Rfs*3 p.R302S | Frame_Shift_Del Missense | DEL SNP | 0.447 0.553 | 2 | - | - |
| CSMD3 | p.T3702M p.E2501D | Missense Missense | SNP SNP | 0.429 0.489 | 2 | - | - |
| CSNK1D | p.I68S | Missense | SNP | 0.462 | 2 | - | - |
| CTB-133G6.1 | p.V186A | Missense | SNP | 0.510 | ND | ND | - |
| CTB-50L17.10 | p.E621V | Missense | SNP | 0.362 | ND | ND | - |
| CTC-534A2.2 | p.N144Tfs*13 | Frame_Shift_Del | DEL | 0.420 | ND | ND | - |
| CTNNAL1 | - | - | - | - | 3 | Gain | - |
| CTNND2 | p.E899D | Missense | SNP | 0.673 | 2 | - | - |
| CTRB1 | p.P41Qfs*19 | Frame_Shift_Del | DEL | 0.372 | 2 | - | - |
| CTSC | p.F105Lfs*10 | Frame_Shift_Del | DEL | 0.644 | 2 | - | - |
| CTSL | - | - | - | - | 3 | Gain | - |
| CTSV | p.A17T | Missense | SNP | 0.378 | 3 | Gain | - |
| CTSZ | p.X103_splice | Splice_Site | SNP | 0.625 | 2 | - | - |
| CUBN | p.Q3289* p.E2827K | Nonsense Missense | SNP SNP | 0.450 0.365 | 2 | - | - |
| CUL1 | p.D516Rfs*47 | Frame_Shift_Ins | INS | 0.315 | 2 | - | - |
| CWC22 | p.G131R | Missense | SNP | 0.491 | 2 | - | - |
| CYB5D2 | p.R239H | Missense | SNP | 0.600 | 2 | - | - |
| CYC1 | p.S93Qfs*26 | Frame_Shift_Ins | INS | 0.373 | 3 | Gain | - |
| CYGB | p.W190Gfs*13 | Frame_Shift_Del | DEL | 0.528 | 2 | - | - |
| CYHR1 | - | - | - | - | 3 | Gain | - |
| CYLC2 | - | - | - | - | 3 | Gain | - |
| CYP11B1 | - | - | - | - | 3 | Gain | - |
| CYP11B2 | - | - | - | - | 3 | Gain | - |
| CYP27B1 | p.V75M | Missense | SNP | 0.536 | 2 | - | - |
| CYP2D6 | p.N398S | Missense | SNP | 0.256 | 2 | - | - |
| CYSRT1 | - | - | - | - | 3 | Gain | - |
| DAB2IP | - | - | - | - | 3 | Gain | - |
| DAPK1 | p.Y1275Tfs*31 p.E1006A | Frame_Shift_Del Missense | DEL SNP | 0.177 0.211 | 3 | Gain | - |
| DAXX | p.R256H | Missense | SNP | 0.564 | 2 | - | - |
| DBH | - | - | - | - | 3 | Gain | - |
| DCAF1 | p.R294H | Missense | SNP | 0.479 | 2 | - | - |
| DCAF10 | - | - | - | - | 3 | Gain | - |
| DCAF12 | - | - | - | - | 3 | Gain | - |
| DCHS2 | p.S255G | Missense | SNP | 0.415 | 2 | - | - |
| DCLRE1A | p.P708H | Missense | SNP | 0.527 | 2 | - | - |
| DCSTAMP | p.L451R | Missense | SNP | 0.486 | 2 | - | - |
| DCTN1 | p.R32C | Missense | SNP | 0.441 | 2 | - | - |
| DCTN3 | - | - | - | - | 3 | Gain | - |
| DDIAS | p.Q293H | Missense | SNP | 0.533 | 2 | - | - |
| DDOST | p.R254H | Missense | SNP | 0.483 | 2 | - | - |
| DDR1 | p.L186_D189delinsH | In_Frame_Del | DEL | 0.394 | 2 | - | - |
| DDX20 | p.R722I | Missense | SNP | 0.391 | 2 | - | - |
| DDX27 | p.P778S | Missense | SNP | 0.513 | 2 | - | - |
| DDX31 | p.V581I | Missense | SNP | 0.312 | 3 | Gain | - |
| DDX39A | p.I423T | Missense | SNP | 0.483 | 2 | - | - |
| DDX46 | p.R551C | Missense | SNP | 0.489 | 2 | - | - |
| DDX58 | - | - | - | - | 3 | Gain | - |
| DEC1 | - | - | - | - | 3 | Gain | - |
| DECR2 | - | - | - | - | 1 | Loss | - |
| DENND1A | - | - | - | - | 3 | Gain | - |
| DENND3 | p.V1192A | Missense | SNP | 0.791 | 3 | Gain | - |
| DENND4C | - | - | - | - | 3 | Gain | - |
| DENND6B | p.M98T | Missense | SNP | 0.653 | 2 | - | - |
| DEPTOR | - | - | - | - | 3 | Gain | - |
| DERL1 | - | - | - | - | 3 | Gain | - |
| DGAT1 | - | - | - | - | 3 | Gain | - |
| DHH | p.A356T | Missense | SNP | 0.500 | 2 | - | - |
| DHX30 | p.F982L | Missense | SNP | 0.429 | 2 | - | - |
| DIO2 | p.R53H | Missense | SNP | 0.423 | 2 | - | - |
| DIP2C | p.P1036Qfs*3 | Frame_Shift_Del | DEL | 0.419 | 2 | - | - |
| DIRAS2 | - | - | - | - | 3 | Gain | - |
| DLC1 | p.R349M | Missense | SNP | 0.466 | 2 | - | - |
| DLG4 | p.L422P | Missense | SNP | 0.547 | 2 | - | - |
| DLGAP2 | p.A626V p.A935V | Missense Missense | SNP SNP | 0.526 0.538 | 2 | - | - |
| DMAC1 | - | - | - | - | 3 | Gain | - |
| DMBT1 | - | - | - | - | 1 | Loss | - |
| DMD | p.Q1383E | Missense | SNP | 1.000 | ND | ND | - |
| DMRT1 | - | - | - | - | 3 | Gain | - |
| DMRT2 | - | - | - | - | 3 | Gain | - |
| DMRT3 | - | - | - | - | 3 | Gain | - |
| DMRTA1 | - | - | - | - | 3 | Gain | - |
| DMXL2 | p.L109* | Frame_Shift_Del | DEL | 0.800 | 2 | - | - |
| DNAH12 | p.T1735A | Missense | SNP | 0.400 | 2 | - | - |
| DNAH6 | p.S114Vfs*16 | Frame_Shift_Del | DEL | 0.091 | 2 | - | - |
| DNAH7 | p.P3413L p.X248_splice | Missense Splice_Site | SNP SNP | 0.406 0.483 | 2 | - | - |
| DNAH9 | p.Y3029C | Missense | SNP | 0.374 | 2 | - | - |
| DNAI1 | - | - | - | - | 3 | Gain | - |
| DNAJA1 | - | - | - | - | 3 | Gain | - |
| DNAJB5 | p.A347T | Missense | SNP | 0.659 | 3 | Gain | - |
| DNAJB7 | p.K295Rfs*25 | Frame_Shift_Del | DEL | 0.511 | 2 | - | - |
| DNAJC25 | - | - | - | - | 3 | Gain | - |
| DNAJC25-GNG10 | - | - | - | - | 3 | Gain | - |
| DNHD1 | p.F640L | Missense | SNP | 0.462 | 2 | - | - |
| DNLZ | - | - | - | - | 3 | Gain | - |
| DNM1 | - | - | - | - | 3 | Gain | - |
| DNMT3A | p.T834A | Missense | SNP | 0.474 | 2 | - | - |
| DNMT3L | p.A39S | Missense | SNP | 0.475 | 2 | - | - |
| DOC2A | p.A242V | Missense | SNP | 0.549 | 2 | - | - |
| DOCK1 | p.A359T | Missense | SNP | 0.500 | 2 | - | - |
| DOCK10 | p.L1088R p.L594I | Missense Missense | SNP SNP | 0.441 0.324 | 2 | - | - |
| DOCK3 | p.P1852Qfs*45 | Frame_Shift_Del | DEL | 0.424 | 2 | - | - |
| DOCK8 | - | - | - | - | 3 | Gain | - |
| DOK6 | p.M238I | Missense | SNP | 0.574 | 2 | - | - |
| DOLK | - | - | - | - | 3 | Gain | - |
| DOLPP1 | - | - | - | - | 3 | Gain | - |
| DOT1L | p.P537Lfs*122 | Frame_Shift_Del | DEL | 0.385 | 2 | - | - |
| DPF3 | p.R232L | Missense | SNP | 0.484 | 2 | - | - |
| DPH7 | - | - | - | - | 3 | Gain | - |
| DPM2 | - | - | - | - | 3 | Gain | - |
| DPP6 | p.P297Q | Missense | SNP | 0.510 | 2 | - | - |
| DPP7 | - | - | - | - | 3 | Gain | - |
| DPYSL3 | p.A630Qfs*15 | Frame_Shift_Del | DEL | 0.415 | 2 | - | - |
| DROSHA | p.L612Pfs*8 | Frame_Shift_Ins | INS | 0.214 | 2 | - | - |
| DRP2 | p.L639S | Missense | SNP | 1.000 | ND | ND | - |
| DSCAML1 | p.I433V | Missense | SNP | 0.425 | 2 | - | - |
| DSCC1 | - | - | - | - | 3 | Gain | - |
| DSG2 | p.I845* | Frame_Shift_Del | DEL | 0.438 | 2 | - | - |
| DUSP27 | p.A892V | Missense | SNP | 0.477 | 2 | - | - |
| DYNC1H1 | p.R2179* | Nonsense | SNP | 0.562 | 2 | - | - |
| DYNC2H1 | p.G2762Wfs*10 | Frame_Shift_Ins | INS | 0.298 | 2 | - | - |
| DYRK1B | p.L592P | Missense | SNP | 0.895 | 2 | - | - |
| DYRK4 | p.R355Dfs*12 | Frame_Shift_Del | DEL | 0.562 | 2 | - | - |
| DYSF | p.L1317P p.R1759C | Missense Missense | SNP SNP | 0.516 0.458 | 2 | - | - |
| EARS2 | p.P85H | Missense | SNP | 0.367 | 2 | - | - |
| EBF4 | p.V270I | Missense | SNP | 0.538 | 2 | - | - |
| ECM2 | - | - | - | - | 3 | Gain | - |
| ECPAS | - | - | - | - | 3 | Gain | - |
| EDA2R | p.P237H | Missense | SNP | 1.000 | ND | ND | - |
| EDF1 | - | - | - | - | 3 | Gain | - |
| EEF1D | - | - | - | - | 3 | Gain | - |
| EFCAB5 | p.K150Nfs*17 | Frame_Shift_Del | DEL | 0.464 | 2 | - | - |
| EFCAB8 | p.S1180G | Missense | SNP | 0.525 | 2 | - | - |
| EFL1 | p.T1069Nfs*3 | Frame_Shift_Ins | INS | 0.223 | 2 | - | - |
| EFR3A | - | - | - | - | 3 | Gain | - |
| EGFL7 | - | - | - | - | 3 | Gain | - |
| EGFR | p.V769A | Missense | SNP | 0.522 | 2 | - | - |
| EHMT1 | - | - | - | - | 3 | Gain | - |
| EIF3H | - | - | - | - | 3 | Gain | - |
| EIF5B | p.K50Sfs*10 | Frame_Shift_Del | DEL | 0.423 | 2 | - | - |
| ELAVL1 | p.T90Pfs*13 | Frame_Shift_Del | DEL | 0.479 | 2 | - | - |
| ELAVL2 | - | - | - | - | 3 | Gain | - |
| ELAVL3 | p.G102S | Missense | SNP | 0.579 | 2 | - | - |
| ELN | p.A707D | Missense | SNP | 0.694 | 2 | - | - |
| ELP1 | - | - | - | - | 3 | Gain | - |
| EML2 | p.Y803* | Nonsense | SNP | 0.491 | 2 | - | - |
| ENDOG | - | - | - | - | 3 | Gain | - |
| ENG | - | - | - | - | 3 | Gain | - |
| ENHO | - | - | - | - | 3 | Gain | - |
| ENO4 | p.K207Rfs*32 | Frame_Shift_Del | DEL | 0.662 | 2 | - | - |
| ENPP2 | - | - | - | - | 3 | Gain | - |
| ENTPD2 | - | - | - | - | 3 | Gain | - |
| ENTPD8 | - | - | - | - | 3 | Gain | - |
| ENTR1 | - | - | - | - | 3 | Gain | - |
| EPB41L4B | - | - | - | - | 3 | Gain | - |
| EPB42 | p.A242V | Missense | SNP | 0.562 | 2 | - | - |
| EPN1 | p.G337Afs*191 | Frame_Shift_Del | DEL | 0.382 | 2 | - | - |
| EPN2 | p.T470Nfs*19 | Frame_Shift_Ins | INS | 0.295 | 2 | - | - |
| EPPK1 | - | - | - | - | 3 | Gain | - |
| EQTN | - | - | - | - | 3 | Gain | - |
| ERC1 | p.R169Q | Missense | SNP | 0.052 | 2 | - | - |
| ERCC5 | p.K952Nfs*30 | Frame_Shift_Del | DEL | 0.447 | 2 | - | - |
| ERCC6 | p.R1230H | Missense | SNP | 0.491 | 2 | - | - |
| ERCC6L2 | - | - | - | - | 3 | Gain | - |
| ERMP1 | p.T651Pfs*3 | Frame_Shift_Del | DEL | 0.591 | 3 | Gain | - |
| ERP44 | - | - | - | - | 3 | Gain | - |
| ERVV-2 | p.A415Gfs*11 | Frame_Shift_Ins | INS | 0.284 | 2 | - | - |
| ESPN | p.P209Rfs*18 | Frame_Shift_Del | DEL | 0.450 | 2 | - | - |
| ESR1 | p.R241W | Missense | SNP | 0.381 | 2 | - | - |
| ESR2 | p.Q20R | Missense | SNP | 0.549 | 2 | - | - |
| ETS2 | p.X102_splice | Splice_Site | SNP | 0.485 | 2 | - | - |
| ETV4 | p.D80N | Missense | SNP | 0.441 | 2 | - | - |
| EVA1B | p.T146Kfs*65 | Frame_Shift_Del | DEL | 0.370 | 2 | - | - |
| EVPL | p.G366Afs*75 | Frame_Shift_Del | DEL | 0.538 | 2 | - | - |
| EXD3 | - | - | - | - | 3 | Gain | - |
| EXOSC2 | - | - | - | - | 3 | Gain | - |
| EXOSC3 | - | - | - | - | 3 | Gain | - |
| EXOSC4 | - | - | - | - | 3 | Gain | - |
| EXOSC9 | p.F78Lfs*23 | Frame_Shift_Del | DEL | 0.459 | 2 | - | - |
| EXT1 | - | - | - | - | 3 | Gain | - |
| EYS | p.D762V | Missense | SNP | 0.442 | 2 | - | - |
| F10 | p.R313Q | Missense | SNP | 0.462 | 2 | - | - |
| FAAP24 | p.G27W | Missense | SNP | 0.621 | 2 | - | - |
| FAF1 | p.A552V | Missense | SNP | 0.688 | 2 | - | - |
| FAM102A | - | - | - | - | 3 | Gain | - |
| FAM110A | p.P32Afs*47 | Frame_Shift_Ins | INS | 0.222 | 2 | - | - |
| FAM110D | p.W136Lfs*224 | Frame_Shift_Ins | INS | 0.287 | 2 | - | - |
| FAM120A | - | - | - | - | 3 | Gain | - |
| FAM120AOS | - | - | - | - | 3 | Gain | - |
| FAM122A | - | - | - | - | 3 | Gain | - |
| FAM129A | p.P251S | Missense | SNP | 0.523 | 2 | - | - |
| FAM129B | - | - | - | - | 3 | Gain | - |
| FAM134B | p.E20D | Missense | SNP | 0.516 | ND | ND | - |
| FAM135A | p.N999Ifs*5 | Frame_Shift_Del | DEL | 0.370 | 2 | - | - |
| FAM135B | - | - | - | - | 3 | Gain | - |
| FAM160B2 | p.P728Hfs*99 | Frame_Shift_Del | DEL | 0.437 | 2 | - | - |
| FAM163B | - | - | - | - | 3 | Gain | - |
| FAM166A | - | - | - | - | 3 | Gain | - |
| FAM166B | - | - | - | - | 3 | Gain | - |
| FAM173A | p.P214H | Missense | SNP | 0.561 | 2 | - | - |
| FAM181B | p.E185* | Frame_Shift_Ins | INS | 0.246 | 2 | - | - |
| FAM189A2 | - | - | - | - | 3 | Gain | - |
| FAM193A | p.V231Sfs*81 | Frame_Shift_Del | DEL | 0.432 | 2 | - | - |
| FAM205A | - | - | - | - | 3 | Gain | - |
| FAM205C | - | - | - | - | 3 | Gain | - |
| FAM206A | - | - | - | - | 3 | Gain | - |
| FAM214A | p.N596S p.R146* | Missense Nonsense | SNP SNP | 0.333 0.510 | 2 | - | - |
| FAM214B | - | - | - | - | 3 | Gain | - |
| FAM218A | p.A146V | Missense | SNP | 0.568 | 2 | - | - |
| FAM219A | - | - | - | - | 3 | Gain | - |
| FAM221B | - | - | - | - | 3 | Gain | - |
| FAM234A | - | - | - | - | 1 | Loss | - |
| FAM46B | p.T345I | Missense | SNP | 0.526 | ND | ND | - |
| FAM47B | p.R198H | Missense | SNP | 1.000 | ND | ND | - |
| FAM49B | - | - | - | - | 3 | Gain | - |
| FAM65A | p.L718I | Missense | SNP | 0.484 | ND | ND | - |
| FAM65C | p.L380R | Missense | SNP | 0.539 | ND | ND | - |
| FAM69B | - | - | - | - | 3 | Gain | - |
| FAM78A | - | - | - | - | 3 | Gain | - |
| FAM81B | p.G145V | Missense | SNP | 0.524 | 2 | - | - |
| FAM83A | - | - | - | - | 3 | Gain | - |
| FAM83H | - | - | - | - | 3 | Gain | - |
| FAM84B | - | - | - | - | 3 | Gain | - |
| FAM91A1 | - | - | - | - | 3 | Gain | - |
| FAM95C | - | - | - | - | 3 | Gain | - |
| FANCC | - | - | - | - | 3 | Gain | - |
| FANCG | - | - | - | - | 3 | Gain | - |
| FANCM | p.V1336Lfs*2 | Frame_Shift_Del | DEL | 0.553 | 2 | - | - |
| FARP1 | p.A287V | Missense | SNP | 0.495 | 2 | - | - |
| FAT4 | p.X2482_splice p.D3430Y | Splice_Site Missense | SNP SNP | 0.537 0.466 | 2 | - | - |
| FBN1 | p.S104F | Missense | SNP | 0.444 | 2 | - | - |
| FBN3 | p.G1577Vfs*72 | Frame_Shift_Del | DEL | 0.397 | 2 | - | - |
| FBP1 | - | - | - | - | 3 | Gain | - |
| FBP2 | - | - | - | - | 3 | Gain | - |
| FBXL6 | - | - | - | - | 3 | Gain | - |
| FBXO10 | - | - | - | - | 3 | Gain | - |
| FBXO32 | - | - | - | - | 3 | Gain | - |
| FBXO42 | p.R412I | Missense | SNP | 0.533 | 2 | - | - |
| FBXW12 | p.R254S | Missense | SNP | 0.436 | 2 | - | - |
| FBXW2 | - | - | - | - | 3 | Gain | - |
| FBXW5 | p.S247N | Missense | SNP | 0.460 | 3 | Gain | - |
| FBXW7 | p.R465C | Missense | SNP | 0.471 | 2 | - | - |
| FCN1 | - | - | - | - | 3 | Gain | - |
| FCN2 | - | - | - | - | 3 | Gain | - |
| FER1L6 | p.Q1016H | Missense | SNP | 0.629 | 3 | Gain | - |
| FERMT2 | p.D57Rfs*4 | Frame_Shift_Ins | INS | 0.355 | 2 | - | - |
| FGD3 | - | - | - | - | 3 | Gain | - |
| FGF4 | p.R57C | Missense | SNP | 0.622 | 2 | - | - |
| FGFR1OP | p.S291Vfs*12 | Frame_Shift_Del | DEL | 0.359 | 2 | - | - |
| FHOD3 | p.S336Vfs*171 | Frame_Shift_Del | DEL | 0.459 | 2 | - | - |
| FIBCD1 | - | - | - | - | 3 | Gain | - |
| FKBP15 | p.P1071A | Missense | SNP | 0.424 | 3 | Gain | - |
| FKRP | p.E376K | Missense | SNP | 0.469 | 2 | - | - |
| FKTN | - | - | - | - | 3 | Gain | - |
| FLNA | p.D2634Tfs*71 | Frame_Shift_Del | DEL | 0.990 | ND | ND | - |
| FLNB | p.N1728I | Missense | SNP | 0.495 | 2 | - | - |
| FLVCR2 | p.S62N | Missense | SNP | 0.507 | 2 | - | - |
| FMNL1 | p.M798T | Missense | SNP | 0.549 | 2 | - | - |
| FMR1 | p.K354Nfs*3 | Frame_Shift_Del | DEL | 0.958 | ND | ND | - |
| FN1 | p.V1338I p.R479H | Missense Missense | SNP SNP | 0.432 0.591 | 2 | - | - |
| FNBP1 | - | - | - | - | 3 | Gain | - |
| FNIP1 | p.Q1128Afs*16 | Frame_Shift_Ins | INS | 0.280 | 2 | - | - |
| FOCAD | - | - | - | - | 3 | Gain | - |
| FOXB2 | - | - | - | - | 3 | Gain | - |
| FOXD4L4 | - | - | - | - | 3 | Gain | - |
| FOXD4L5 | - | - | - | - | 3 | Gain | - |
| FOXE1 | - | - | - | - | 3 | Gain | - |
| FOXH1 | - | - | - | - | 3 | Gain | - |
| FOXM1 | p.E709Nfs*12 | Frame_Shift_Del | DEL | 0.425 | 2 | - | - |
| FOXRED2 | p.R403* | Nonsense | SNP | 0.432 | 2 | - | - |
| FP236383.2 | - | - | - | - | ND | ND | FP236383.2--LRTOMT |
| FPGS | - | - | - | - | 3 | Gain | - |
| FREM1 | - | - | - | - | 3 | Gain | - |
| FRMD1 | p.R318M | Missense | SNP | 0.731 | 2 | - | - |
| FRMD3 | - | - | - | - | 3 | Gain | - |
| FRMPD1 | - | - | - | - | 3 | Gain | - |
| FRRS1 | p.R393W | Missense | SNP | 0.427 | 2 | - | - |
| FRRS1L | - | - | - | - | 3 | Gain | - |
| FRY | p.Y1426H | Missense | SNP | 0.389 | 2 | - | - |
| FSD1L | - | - | - | - | 3 | Gain | - |
| FSHR | p.N354T | Missense | SNP | 0.442 | 2 | - | - |
| FTO | p.V116I | Missense | SNP | 0.543 | 2 | - | - |
| FUBP3 | - | - | - | - | 3 | Gain | - |
| FUK | p.L851M | Missense | SNP | 0.269 | 2 | - | - |
| FUT7 | - | - | - | - | 3 | Gain | - |
| FUT8 | p.R473* | Nonsense | SNP | 0.580 | 2 | - | - |
| FXN | - | - | - | - | 3 | Gain | - |
| FXR2 | p.P540Qfs*32 p.D9Mfs*22 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.536 0.410 | 2 | - | - |
| FZR1 | p.N335S | Missense | SNP | 0.417 | 2 | - | - |
| GAB1 | p.T221Rfs*? | Frame_Shift_Del | DEL | 0.534 | 2 | - | - |
| GAB3 | p.A99V | Missense | SNP | 1.000 | ND | ND | - |
| GAB4 | p.D77A | Missense | SNP | 0.420 | 2 | - | - |
| GABBR1 | p.A21T | Missense | SNP | 0.592 | 2 | - | - |
| GABBR2 | - | - | - | - | 3 | Gain | - |
| GABRB2 | p.S500Pfs*12 | Frame_Shift_Del | DEL | 0.536 | 2 | - | - |
| GABRG2 | p.M23Nfs*17 | Frame_Shift_Ins | INS | 0.262 | 2 | - | - |
| GADD45G | - | - | - | - | 3 | Gain | - |
| GALNT10 | p.Y450C | Missense | SNP | 0.535 | 2 | - | - |
| GALNT12 | p.G215R | Missense | SNP | 0.554 | 3 | Gain | - |
| GALT | - | - | - | - | 3 | Gain | - |
| GAMT | p.A19T | Missense | SNP | 0.474 | 2 | - | - |
| GAPVD1 | - | - | - | - | 3 | Gain | - |
| GARNL3 | - | - | - | - | 3 | Gain | - |
| GAS1 | - | - | - | - | 3 | Gain | - |
| GAS2L3 | p.R262C | Missense | SNP | 0.532 | 2 | - | - |
| GAS6 | p.R151Pfs*27 | Frame_Shift_Ins | INS | 0.315 | 2 | - | - |
| GAS7 | p.M1? p.P112H | Frame_Shift_Del Missense | DEL SNP | 0.352 0.650 | 2 | - | - |
| GBA2 | - | - | - | - | 3 | Gain | - |
| GBGT1 | - | - | - | - | 3 | Gain | - |
| GCGR | p.G196E | Missense | SNP | 0.486 | 2 | - | - |
| GCM2 | p.P269T | Missense | SNP | 0.436 | 2 | - | - |
| GCNT1 | - | - | - | - | 3 | Gain | - |
| GCNT3 | p.Y135H | Missense | SNP | 0.490 | 2 | - | - |
| GCNT7 | p.D323Mfs*73 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
| GDA | - | - | - | - | 3 | Gain | - |
| GDF7 | p.A418T | Missense | SNP | 0.482 | 2 | - | - |
| GDPD5 | p.M534V | Missense | SNP | 0.546 | 2 | - | - |
| GEMIN5 | p.F304Lfs*58 | Frame_Shift_Del | DEL | 0.541 | 2 | - | - |
| GFI1B | - | - | - | - | 3 | Gain | - |
| GFPT2 | p.V463I | Missense | SNP | 0.508 | 2 | - | - |
| GHITM | p.T166I | Missense | SNP | 0.524 | 2 | - | - |
| GIGYF1 | p.L111Pfs*20 | Frame_Shift_Ins | INS | 0.271 | 2 | - | - |
| GK2 | p.I130Ffs*23 | Frame_Shift_Del | DEL | 0.333 | 2 | - | - |
| GKAP1 | - | - | - | - | 3 | Gain | - |
| GLB1 | p.N669Tfs*17 | Frame_Shift_Del | DEL | 0.494 | 2 | - | - |
| GLDC | - | - | - | - | 3 | Gain | - |
| GLE1 | - | - | - | - | 3 | Gain | - |
| GLI1 | p.G274Afs*6 | Frame_Shift_Del | DEL | 0.442 | 2 | - | - |
| GLI2 | p.V1361Wfs*8 p.E617G | Frame_Shift_Del Missense | DEL SNP | 0.324 0.537 | 2 | - | - |
| GLI4 | - | - | - | - | 3 | Gain | - |
| GLIPR2 | p.P151S | Missense | SNP | 0.675 | 3 | Gain | - |
| GLIS1 | p.T73Pfs*29 | Frame_Shift_Del | DEL | 0.365 | 2 | - | - |
| GLIS3 | - | - | - | - | 3 | Gain | - |
| GLT6D1 | - | - | - | - | 3 | Gain | - |
| GML | - | - | - | - | 3 | Gain | - |
| GNA14 | - | - | - | - | 3 | Gain | - |
| GNAQ | - | - | - | - | 3 | Gain | - |
| GNAS | p.Q870H | Missense | SNP | 0.495 | 2 | - | - |
| GNAZ | p.Q205Rfs*29 | Frame_Shift_Del | DEL | 0.427 | 2 | - | - |
| GNB1L | p.X43_splice | Splice_Site | SNP | 0.439 | 2 | - | - |
| GNE | - | - | - | - | 3 | Gain | - |
| GNG10 | - | - | - | - | 3 | Gain | - |
| GNRHR | p.S327Lfs*4 | Frame_Shift_Del | DEL | 0.561 | 2 | - | - |
| GOLGA1 | - | - | - | - | 3 | Gain | - |
| GOLGA2 | - | - | - | - | 3 | Gain | - |
| GOLM1 | - | - | - | - | 3 | Gain | - |
| GOT1 | p.A230T | Missense | SNP | 0.588 | 2 | - | - |
| GOT2 | p.G173S | Missense | SNP | 0.380 | 2 | - | - |
| GP1BA | p.P450L | Missense | SNP | 0.396 | 2 | - | - |
| GPAA1 | - | - | - | - | 3 | Gain | - |
| GPATCH4 | p.R340Q | Missense | SNP | 0.536 | 2 | - | - |
| GPATCH8 | p.A32V | Missense | SNP | 0.522 | 2 | - | - |
| GPIHBP1 | - | - | - | - | 3 | Gain | - |
| GPR107 | - | - | - | - | 3 | Gain | - |
| GPR20 | - | - | - | - | 3 | Gain | - |
| GPR21 | - | - | - | - | 3 | Gain | - |
| GPR6 | p.A106V | Missense | SNP | 0.607 | 2 | - | - |
| GPSM1 | - | - | - | - | 3 | Gain | - |
| GPT | - | - | - | - | 3 | Gain | - |
| GRAMD1C | p.K43Nfs*42 | Frame_Shift_Del | DEL | 0.426 | 2 | - | - |
| GRB14 | p.K297Nfs*23 | Frame_Shift_Del | DEL | 0.555 | 2 | - | - |
| GRHPR | - | - | - | - | 3 | Gain | - |
| GRIA4 | p.L784P | Missense | SNP | 0.509 | 2 | - | - |
| GRIN1 | - | - | - | - | 3 | Gain | - |
| GRIN2B | p.G1370R | Missense | SNP | 0.429 | 2 | - | - |
| GRIN3A | - | - | - | - | 3 | Gain | - |
| GRINA | - | - | - | - | 3 | Gain | - |
| GRK2 | p.R378Gfs*29 | Frame_Shift_Del | DEL | 0.427 | 2 | - | - |
| GRK4 | p.R222Efs*2 | Frame_Shift_Del | DEL | 0.324 | 2 | - | - |
| GRM1 | p.K891E | Missense | SNP | 0.500 | 2 | - | - |
| GRM3 | p.Q855* | Nonsense | SNP | 0.506 | 2 | - | - |
| GSC | p.C18Y | Missense | SNP | 0.438 | 2 | - | - |
| GSDMC | - | - | - | - | 3 | Gain | - |
| GSDMD | - | - | - | - | 3 | Gain | - |
| GSN | - | - | - | - | 3 | Gain | - |
| GSTM1 | p.C115R | Missense | SNP | 1.000 | 2 | - | - |
| GTF2IRD1 | p.G951R | Missense | SNP | 0.425 | 2 | - | - |
| GTF3C4 | - | - | - | - | 3 | Gain | - |
| GTF3C5 | - | - | - | - | 3 | Gain | - |
| HABP4 | - | - | - | - | 3 | Gain | - |
| HACD3 | p.E136G | Missense | SNP | 0.478 | 2 | - | - |
| HACD4 | - | - | - | - | 3 | Gain | - |
| HAND2 | p.A87V | Missense | SNP | 0.645 | 2 | - | - |
| HAPLN4 | p.T236Pfs*43 | Frame_Shift_Del | DEL | 0.498 | 2 | - | - |
| HAS1 | p.V251M | Missense | SNP | 0.508 | 2 | - | - |
| HAS2 | - | - | - | - | 3 | Gain | - |
| HAUS6 | - | - | - | - | 3 | Gain | - |
| HCAR2 | p.Y295C | Missense | SNP | 0.361 | 2 | - | - |
| HCRTR2 | p.C12Lfs*12 | Frame_Shift_Ins | INS | 0.333 | 2 | - | - |
| HDAC4 | p.Q499R | Missense | SNP | 0.451 | 2 | - | - |
| HDHD3 | - | - | - | - | 3 | Gain | - |
| HEATR6 | p.V438Ffs*24 | Frame_Shift_Del | DEL | 0.446 | 2 | - | - |
| HECTD4 | p.A3240Rfs*26 p.N3556S | Frame_Shift_Del Missense | DEL SNP | 0.472 0.500 | 2 | - | - |
| HECW1 | p.R992W | Missense | SNP | 0.482 | 2 | - | - |
| HECW2 | p.K383Sfs*12 | Frame_Shift_Del | DEL | 0.504 | 2 | - | - |
| HELZ2 | p.K2462N | Missense | SNP | 0.414 | 2 | - | - |
| HEMGN | - | - | - | - | 3 | Gain | - |
| HERC1 | p.K3605Nfs*17 | Frame_Shift_Del | DEL | 0.529 | 2 | - | - |
| HERC2 | p.X3714_splice | Splice_Site | SNP | 0.625 | 2 | - | - |
| HFE2 | p.C321Vfs*21 p.R332H | Frame_Shift_Ins Missense | INS SNP | 0.296 0.548 | ND | ND | - |
| HGH1 | - | - | - | - | 3 | Gain | - |
| HGS | p.E236Sfs*3 | Frame_Shift_Del | DEL | 0.559 | 2 | - | - |
| HHLA1 | - | - | - | - | 3 | Gain | - |
| HINT2 | - | - | - | - | 3 | Gain | - |
| HIPK3 | p.X633_splice | Splice_Site | SNP | 0.483 | 2 | - | - |
| HIST1H2BO | p.A8Lfs*15 | Frame_Shift_Ins | INS | 0.352 | 2 | - | - |
| HIST1H3I | p.R18H | Missense | SNP | 0.478 | 2 | - | - |
| HIVEP2 | p.K643N | Missense | SNP | 0.453 | 2 | - | - |
| HLA-B | p.L154P | Missense | SNP | 0.259 | 2 | - | - |
| HLA-C | p.L154P | Missense | SNP | 0.188 | 2 | - | - |
| HMCN2 | p.L3008P | Missense | SNP | 0.278 | 3 | Gain | - |
| HMGCL | p.R10L | Missense | SNP | 0.525 | 2 | - | - |
| HMX3 | p.P23Hfs*100 | Frame_Shift_Del | DEL | 0.434 | 2 | - | - |
| HNF1A | p.P379Lfs*5 | Frame_Shift_Del | DEL | 0.515 | 2 | - | - |
| HNRNPAB | p.D85Ifs*2 | Frame_Shift_Del | DEL | 0.455 | 2 | - | - |
| HNRNPCL1 | p.A35V | Missense | SNP | 0.652 | 2 | - | - |
| HNRNPK | - | - | - | - | 3 | Gain | - |
| HNRNPM | p.G413Vfs*115 | Frame_Shift_Del | DEL | 0.466 | 2 | - | - |
| HOMEZ | p.A301V | Missense | SNP | 0.535 | 2 | - | - |
| HOXA11 | p.I299Lfs*30 | Frame_Shift_Del | DEL | 0.619 | 2 | - | - |
| HOXA2 | p.M98T | Missense | SNP | 0.276 | 2 | - | - |
| HOXD11 | p.A29T | Missense | SNP | 0.510 | 2 | - | - |
| HOXD8 | p.Q202* | Nonsense | SNP | 0.325 | 2 | - | - |
| HP1BP3 | p.M39V | Missense | SNP | 0.500 | 2 | - | - |
| HPR | p.R60H | Missense | SNP | 0.409 | 2 | - | - |
| HPS1 | p.M325Wfs*6 | Frame_Shift_Del | DEL | 0.478 | 2 | - | - |
| HRCT1 | - | - | - | - | 3 | Gain | - |
| HSD17B1 | p.P57Q | Missense | SNP | 0.465 | 2 | - | - |
| HSD17B3 | - | - | - | - | 3 | Gain | - |
| HSDL2 | - | - | - | - | 3 | Gain | - |
| HSF1 | p.K157R p.S412R | Missense Missense | SNP SNP | 0.255 0.372 | 3 | Gain | - |
| HSPA5 | - | - | - | - | 3 | Gain | - |
| HSPG2 | p.W938R | Missense | SNP | 0.443 | 2 | - | - |
| HTR1B | p.Y157C | Missense | SNP | 0.439 | 2 | - | - |
| HTR7 | p.T89K | Missense | SNP | 0.462 | 2 | - | - |
| HTRA1 | - | - | - | - | 1 | Loss | - |
| HTT | p.R1647H | Missense | SNP | 0.465 | 2 | - | - |
| HYAL1 | p.R191W | Missense | SNP | 0.481 | 2 | - | - |
| IARS | - | - | - | - | 3 | Gain | - |
| IDE | p.W355C | Missense | SNP | 0.450 | 2 | - | - |
| IDNK | - | - | - | - | 3 | Gain | - |
| IER5L | - | - | - | - | 3 | Gain | - |
| IFFO1 | p.Q277H | Missense | SNP | 0.495 | 2 | - | - |
| IFI27L2 | p.G52Vfs*? | Frame_Shift_Del | DEL | 0.422 | 2 | - | - |
| IFIT3 | p.Y419H | Missense | SNP | 0.512 | 2 | - | - |
| IFITM10 | p.L225Sfs*32 | Frame_Shift_Del | DEL | 0.446 | 2 | - | - |
| IFNA1 | - | - | - | - | 3 | Gain | - |
| IFNA10 | - | - | - | - | 3 | Gain | - |
| IFNA13 | - | - | - | - | 3 | Gain | - |
| IFNA14 | - | - | - | - | 3 | Gain | - |
| IFNA16 | - | - | - | - | 3 | Gain | - |
| IFNA17 | - | - | - | - | 3 | Gain | - |
| IFNA2 | - | - | - | - | 3 | Gain | - |
| IFNA21 | - | - | - | - | 3 | Gain | - |
| IFNA4 | - | - | - | - | 3 | Gain | - |
| IFNA5 | - | - | - | - | 3 | Gain | - |
| IFNA6 | - | - | - | - | 3 | Gain | - |
| IFNA7 | - | - | - | - | 3 | Gain | - |
| IFNA8 | - | - | - | - | 3 | Gain | - |
| IFNB1 | - | - | - | - | 3 | Gain | - |
| IFNE | - | - | - | - | 3 | Gain | - |
| IFNK | - | - | - | - | 3 | Gain | - |
| IFNW1 | - | - | - | - | 3 | Gain | - |
| IFT74 | - | - | - | - | 3 | Gain | - |
| IFT80 | p.*778Lext*12 | Nonstop | SNP | 0.469 | 2 | - | - |
| IGFBPL1 | - | - | - | - | 3 | Gain | - |
| IGLON5 | p.I220T | Missense | SNP | 0.633 | 2 | - | - |
| IGSF22 | p.G835D | Missense | SNP | 0.408 | 2 | - | - |
| IGSF8 | p.G161Rfs*18 p.V79A | Frame_Shift_Ins Missense | INS SNP | 0.282 0.453 | 2 | - | - |
| IKBKE | p.R525Q | Missense | SNP | 0.561 | 2 | - | - |
| IL11RA | - | - | - | - | 3 | Gain | - |
| IL17RE | p.W327R | Missense | SNP | 0.531 | 2 | - | - |
| IL33 | - | - | - | - | 3 | Gain | - |
| ILK | p.L71Cfs*26 p.G408D | Frame_Shift_Del Missense | DEL SNP | 0.119 0.458 | 2 | - | - |
| INIP | - | - | - | - | 3 | Gain | - |
| INPP5A | - | - | - | - | 1 | Loss | - |
| INPP5E | - | - | - | - | 3 | Gain | - |
| INSL4 | - | - | - | - | 3 | Gain | - |
| INSL6 | - | - | - | - | 3 | Gain | - |
| INSM2 | p.R127H | Missense | SNP | 0.375 | 2 | - | - |
| INSR | p.V173M | Missense | SNP | 0.528 | 2 | - | - |
| INTS1 | p.E130K | Missense | SNP | 0.524 | 2 | - | - |
| INTS12 | p.M168I | Missense | SNP | 0.373 | 2 | - | - |
| INVS | - | - | - | - | 3 | Gain | - |
| IPO4 | p.A36Pfs*10 | Frame_Shift_Del | DEL | 0.402 | 2 | - | - |
| IPO7 | p.D904G | Missense | SNP | 0.500 | 2 | - | - |
| IPO8 | p.V198L | Missense | SNP | 0.515 | 2 | - | - |
| IPPK | - | - | - | - | 3 | Gain | - |
| IQANK1 | - | - | - | - | 3 | Gain | - |
| IQCA1 | p.E314K | Missense | SNP | 0.553 | 2 | - | - |
| IRF8 | p.P175Q | Missense | SNP | 0.533 | 2 | - | - |
| IRGQ | p.R330C | Missense | SNP | 0.548 | 2 | - | - |
| IRS1 | p.P368Rfs*95 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
| IRX3 | p.E236Gfs*12 | Frame_Shift_Ins | INS | 0.223 | 2 | - | - |
| ISCA1 | - | - | - | - | 3 | Gain | - |
| ISG20L2 | p.L289Sfs*15 | Frame_Shift_Del | DEL | 0.468 | 2 | - | - |
| ISLR2 | p.A350T | Missense | SNP | 0.467 | 2 | - | - |
| ITPR2 | p.W2229Sfs*15 p.R1837Gfs*7 | Frame_Shift_Ins Frame_Shift_Del | INS DEL | 0.286 0.410 | 2 | - | - |
| IWS1 | p.A320V | Missense | SNP | 0.475 | 2 | - | - |
| IZUMO2 | p.G20D | Missense | SNP | 0.460 | 2 | - | - |
| IZUMO3 | - | - | - | - | 3 | Gain | - |
| JADE3 | p.R753M | Missense | SNP | 1.000 | ND | ND | - |
| JAK2 | - | - | - | - | 3 | Gain | - |
| JMJD1C | p.V117I | Missense | SNP | 0.400 | 2 | - | - |
| JRK | - | - | - | - | 3 | Gain | - |
| JUP | p.N5D | Missense | SNP | 0.529 | 2 | - | - |
| KANK1 | p.E26V | Missense | SNP | 0.610 | 3 | Gain | - |
| KANK2 | p.P430Rfs*5 | Frame_Shift_Del | DEL | 0.383 | 2 | - | - |
| KANK4 | p.S627A | Missense | SNP | 0.333 | 2 | - | - |
| KANSL2 | p.G458E | Missense | SNP | 0.395 | 2 | - | - |
| KAT5 | p.R253* | Nonsense | SNP | 0.506 | 2 | - | - |
| KAT6B | p.N1883Tfs*2 | Frame_Shift_Del | DEL | 0.513 | 2 | - | - |
| KCNH1 | p.N93Y | Missense | SNP | 0.600 | 2 | - | - |
| KCNH3 | p.G1050Afs*39 | Frame_Shift_Del | DEL | 0.367 | 2 | - | - |
| KCNH4 | p.R800Gfs*28 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
| KCNH7 | p.N719Kfs*2 | Frame_Shift_Ins | INS | 0.319 | 2 | - | - |
| KCNH8 | p.K209Sfs*29 | Frame_Shift_Del | DEL | 0.464 | 2 | - | - |
| KCNK9 | - | - | - | - | 3 | Gain | - |
| KCNN3 | p.P217Rfs*67 | Frame_Shift_Del | DEL | 0.586 | 2 | - | - |
| KCNQ3 | p.K533Nfs*6 | Frame_Shift_Del | DEL | 0.548 | 3 | Gain | - |
| KCNT1 | - | - | - | - | 3 | Gain | - |
| KCNV2 | - | - | - | - | 3 | Gain | - |
| KDM4C | - | - | - | - | 3 | Gain | - |
| KHDRBS3 | - | - | - | - | 3 | Gain | - |
| KIAA0408 | . | Splice_Site | SNP | 0.417 | 2 | - | - |
| KIAA0556 | p.S14P | Missense | SNP | 0.446 | 2 | - | - |
| KIAA0753 | p.H116Tfs*21 | Frame_Shift_Ins | INS | 0.359 | 2 | - | - |
| KIAA1024 | p.S702Afs*11 | Frame_Shift_Del | DEL | 0.898 | 2 | - | - |
| KIAA1109 | p.V4405M | Missense | SNP | 0.391 | 2 | - | - |
| KIAA1462 | p.D507Mfs*23 | Frame_Shift_Del | DEL | 0.400 | ND | ND | - |
| KIAA1549L | p.K830E | Missense | SNP | 0.448 | 2 | - | - |
| KIAA1683 | p.P498S | Missense | SNP | 0.580 | ND | ND | - |
| KIAA1755 | p.A633T | Missense | SNP | 0.526 | 2 | - | - |
| KIAA1958 | p.K423R | Missense | SNP | 0.279 | 3 | Gain | - |
| KIAA2012 | p.K841Nfs*2 | Frame_Shift_Del | DEL | 0.533 | 2 | - | - |
| KIAA2026 | - | - | - | - | 3 | Gain | - |
| KIDINS220 | p.R596M | Missense | SNP | 0.595 | 2 | - | - |
| KIF12 | - | - | - | - | 3 | Gain | - |
| KIF17 | p.R232W | Missense | SNP | 0.364 | 2 | - | - |
| KIF1A | p.R1302H | Missense | SNP | 0.529 | 2 | - | - |
| KIF1C | p.Q542R | Missense | SNP | 0.503 | 2 | - | - |
| KIF21A | p.I1235Ffs*7 | Frame_Shift_Del | DEL | 0.429 | 2 | - | - |
| KIF21B | p.G1202Afs*16 | Frame_Shift_Del | DEL | 0.449 | 2 | - | - |
| KIF24 | - | - | - | - | 3 | Gain | - |
| KIF26A | p.G417A p.K916E | Missense Missense | SNP SNP | 0.537 0.452 | 2 | - | - |
| KIF26B | p.A1835Pfs*41 | Frame_Shift_Del | DEL | 0.676 | 2 | - | - |
| KIF27 | - | - | - | - | 3 | Gain | - |
| KIF4B | p.A717V | Missense | SNP | 0.510 | 2 | - | - |
| KIFC2 | - | - | - | - | 3 | Gain | - |
| KIR2DL4 | p.D310Mfs*4 | Frame_Shift_Del | DEL | 0.375 | 2 | - | - |
| KLF3 | p.K106Nfs*21 | Frame_Shift_Del | DEL | 0.509 | 2 | - | - |
| KLF4 | - | - | - | - | 3 | Gain | - |
| KLF9 | - | - | - | - | 3 | Gain | - |
| KLHDC7B | p.P586Lfs*83 | Frame_Shift_Del | DEL | 0.521 | 2 | - | - |
| KLHL38 | - | - | - | - | 3 | Gain | - |
| KLHL4 | p.L384I | Missense | SNP | 1.000 | ND | ND | - |
| KLHL9 | - | - | - | - | 3 | Gain | - |
| KLK9 | p.A150Pfs*? | Frame_Shift_Del | DEL | 0.446 | 2 | - | - |
| KMT2A | p.P58Rfs*92 | Frame_Shift_Del | DEL | 0.551 | 2 | - | - |
| KMT2B | p.L2359R | Missense | SNP | 0.500 | 2 | - | - |
| KMT2D | p.G4479E p.X134_splice | Missense Splice_Site | SNP SNP | 0.432 0.554 | 2 | - | - |
| KNTC1 | p.K1646Nfs*2 | Frame_Shift_Del | DEL | 0.365 | 2 | - | - |
| KPNA1 | p.L451P | Missense | SNP | 0.562 | 2 | - | - |
| KRT12 | p.G291Efs*75 | Frame_Shift_Del | DEL | 0.435 | 2 | - | - |
| KRT15 | p.S34Vfs*31 | Frame_Shift_Del | DEL | 0.432 | 2 | - | - |
| KRT18 | p.G41Afs*27 | Frame_Shift_Del | DEL | 0.450 | 2 | - | - |
| KRT32 | p.R203H | Missense | SNP | 0.500 | 2 | - | - |
| KRT71 | p.R46Q | Missense | SNP | 0.478 | 2 | - | - |
| KRTAP10-1 | p.V269G | Missense | SNP | 0.422 | 2 | - | - |
| KRTAP13-1 | p.S51P | Missense | SNP | 0.402 | 2 | - | - |
| KRTAP24-1 | p.G66S | Missense | SNP | 0.628 | 2 | - | - |
| KSR2 | p.V242M | Missense | SNP | 0.419 | 2 | - | - |
| KYAT1 | - | - | - | - | 3 | Gain | - |
| L3MBTL1 | p.S263N | Missense | SNP | 0.540 | 2 | - | - |
| LAMA1 | p.K907E p.A15T | Missense Missense | SNP SNP | 0.778 0.500 | 2 | - | - |
| LAMA3 | p.T2580Hfs*68 p.Y2850C p.T3028A | Frame_Shift_Del Missense Missense | DEL SNP SNP | 0.483 0.555 0.543 | 2 | - | - |
| LAMC3 | p.F794Lfs*90 | Frame_Shift_Del | DEL | 0.263 | 3 | Gain | - |
| LARGE1 | p.T319I | Missense | SNP | 0.440 | 2 | - | - |
| LARGE2 | p.A225V | Missense | SNP | 0.432 | 2 | - | - |
| LARP4B | p.T163Hfs*47 | Frame_Shift_Del | DEL | 0.440 | 2 | - | - |
| LARP7 | . | Frame_Shift_Del | DEL | 0.933 | 2 | - | - |
| LCE1C | p.C44Y | Missense | SNP | 0.409 | 2 | - | - |
| LCN1 | - | - | - | - | 3 | Gain | - |
| LCN10 | - | - | - | - | 3 | Gain | - |
| LCN12 | - | - | - | - | 3 | Gain | - |
| LCN15 | - | - | - | - | 3 | Gain | - |
| LCN2 | - | - | - | - | 3 | Gain | - |
| LCN6 | - | - | - | - | 3 | Gain | - |
| LCN8 | - | - | - | - | 3 | Gain | - |
| LCN9 | - | - | - | - | 3 | Gain | - |
| LCNL1 | - | - | - | - | 3 | Gain | - |
| LDB1 | p.P24Rfs*81 | Frame_Shift_Del | DEL | 0.494 | 2 | - | - |
| LDLRAD1 | p.G8V | Missense | SNP | 0.438 | 2 | - | - |
| LDLRAD2 | p.A108V | Missense | SNP | 0.532 | 2 | - | - |
| LGALS4 | p.K97Rfs*10 | Frame_Shift_Del | DEL | 0.425 | 2 | - | - |
| LGI3 | p.S396F | Missense | SNP | 0.426 | 2 | - | - |
| LGI4 | p.T509A | Missense | SNP | 0.598 | 2 | - | - |
| LGR6 | p.R510Gfs*75 | Frame_Shift_Del | DEL | 0.550 | 2 | - | - |
| LHX2 | p.P364H | Missense | SNP | 0.402 | 3 | Gain | - |
| LHX3 | - | - | - | - | 3 | Gain | - |
| LHX6 | - | - | - | - | 3 | Gain | - |
| LIMK1 | p.E369* | Nonsense | SNP | 0.475 | 2 | - | - |
| LINGO1 | p.V12Rfs*167 | Frame_Shift_Ins | INS | 0.257 | 2 | - | - |
| LINGO2 | - | - | - | - | 3 | Gain | - |
| LMAN1 | p.E305Rfs*22 | Frame_Shift_Del | DEL | 0.473 | 2 | - | - |
| LMNB2 | p.S544Rfs*31 | Frame_Shift_Del | DEL | 0.422 | 2 | - | - |
| LMNTD2 | p.L603Pfs*? | Frame_Shift_Ins | INS | 0.337 | 2 | - | - |
| LMX1B | - | - | - | - | 3 | Gain | - |
| LNP1 | p.R117W | Missense | SNP | 0.352 | 2 | - | - |
| LNPEP | p.N145Tfs*6 | Frame_Shift_Del | DEL | 0.392 | 2 | - | - |
| LNX2 | p.D457G p.V103D | Missense Missense | SNP SNP | 0.453 0.485 | 2 | - | - |
| LONP2 | p.A216V | Missense | SNP | 0.432 | 2 | - | - |
| LPAR1 | - | - | - | - | 3 | Gain | - |
| LPAR2 | p.E285K | Missense | SNP | 0.556 | 2 | - | - |
| LPAR3 | p.Y14Ifs*18 | Frame_Shift_Del | DEL | 0.455 | 2 | - | - |
| LPAR5 | p.L26M | Missense | SNP | 0.486 | 2 | - | - |
| LRBA | p.I2118Sfs*46 p.T2011Qfs*11 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.375 0.459 | 2 | - | - |
| LRIG3 | p.V41Sfs*22 | Frame_Shift_Del | DEL | 0.333 | 2 | - | - |
| LRP4 | p.L1836Pfs*24 | Frame_Shift_Ins | INS | 0.278 | 2 | - | - |
| LRRC14 | - | - | - | - | 3 | Gain | - |
| LRRC16A | p.K265Nfs*6 | Frame_Shift_Del | DEL | 0.448 | ND | ND | - |
| LRRC19 | - | - | - | - | 3 | Gain | - |
| LRRC24 | - | - | - | - | 3 | Gain | - |
| LRRC26 | - | - | - | - | 3 | Gain | - |
| LRRC29 | p.A147T | Missense | SNP | 0.486 | 2 | - | - |
| LRRC41 | p.S134Pfs*116 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
| LRRC55 | p.G126D | Missense | SNP | 0.521 | 2 | - | - |
| LRRC56 | p.I273Sfs*137 | Frame_Shift_Del | DEL | 0.404 | 2 | - | - |
| LRRC6 | - | - | - | - | 3 | Gain | - |
| LRRC8A | - | - | - | - | 3 | Gain | - |
| LRRC8D | p.I390M | Missense | SNP | 0.494 | 2 | - | - |
| LRRC9 | p.N647Tfs*11 | Frame_Shift_Del | DEL | 0.476 | 2 | - | - |
| LRSAM1 | - | - | - | - | 3 | Gain | - |
| LRTOMT | - | - | - | - | 2 | - | FP236383.2--LRTOMT |
| LTBP3 | p.W311C | Missense | SNP | 0.600 | 2 | - | - |
| LTBP4 | p.A1409Pfs*21 | Frame_Shift_Ins | INS | 0.268 | 2 | - | - |
| LTF | p.A359S | Missense | SNP | 0.506 | 2 | - | - |
| LTN1 | p.V747Sfs*5 | Frame_Shift_Del | DEL | 0.979 | 2 | - | - |
| LURAP1L | - | - | - | - | 3 | Gain | - |
| LUZP1 | p.M224* | Frame_Shift_Del | DEL | 0.282 | 2 | - | - |
| LY6D | - | - | - | - | 3 | Gain | - |
| LY6E | - | - | - | - | 3 | Gain | - |
| LY6H | - | - | - | - | 3 | Gain | - |
| LY6K | - | - | - | - | 3 | Gain | - |
| LY6L | - | - | - | - | 3 | Gain | - |
| LYAR | p.P239Lfs*49 | Frame_Shift_Del | DEL | 0.524 | 2 | - | - |
| LYNX1 | - | - | - | - | 3 | Gain | - |
| LYNX1-SLURP2 | - | - | - | - | 3 | Gain | - |
| LYPD2 | - | - | - | - | 3 | Gain | - |
| LYSMD2 | p.H214P | Missense | SNP | 0.630 | 2 | - | - |
| LZTR1 | p.H287Q | Missense | SNP | 0.424 | 2 | - | - |
| MAF1 | - | - | - | - | 3 | Gain | - |
| MAFA | - | - | - | - | 3 | Gain | - |
| MAL2 | - | - | - | - | 3 | Gain | - |
| MAMDC2 | - | - | - | - | 3 | Gain | - |
| MAMDC4 | p.A856V | Missense | SNP | 0.338 | 3 | Gain | - |
| MAN1B1 | - | - | - | - | 3 | Gain | - |
| MAP2K7 | p.X127_splice | Splice_Site | SNP | 0.525 | 2 | - | - |
| MAP3K10 | p.R221W | Missense | SNP | 0.509 | 2 | - | - |
| MAP3K4 | p.R94H | Missense | SNP | 0.553 | 2 | - | - |
| MAP7D3 | p.Q308Rfs*2 | Frame_Shift_Del | DEL | 0.921 | ND | ND | - |
| MAPK15 | - | - | - | - | 3 | Gain | - |
| MAPKAP1 | - | - | - | - | 3 | Gain | - |
| MAPRE3 | p.C182Lfs*16 | Frame_Shift_Ins | INS | 0.261 | 2 | - | - |
| MARCH4 | p.A128T p.C14W | Missense Missense | SNP SNP | 0.604 0.512 | 2 | - | - |
| MASP1 | p.S529L | Missense | SNP | 0.500 | 2 | - | - |
| MAST2 | p.F726Lfs*12 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
| MAST3 | p.R1178G | Missense | SNP | 0.579 | 2 | - | - |
| MAST4 | p.S1880Afs*59 | Frame_Shift_Del | DEL | 0.357 | 2 | - | - |
| MBNL1 | p.A52T | Missense | SNP | 0.431 | 2 | - | - |
| MCIDAS | p.P169L | Missense | SNP | 0.429 | 2 | - | - |
| MCM2 | p.G43S | Missense | SNP | 0.538 | 2 | - | - |
| MCM4 | p.X392_splice | Splice_Site | SNP | 0.509 | 2 | - | - |
| MCM5 | p.P383H | Missense | SNP | 0.492 | 2 | - | - |
| MCTP1 | p.X871_splice | Splice_Site | SNP | 0.538 | 2 | - | - |
| MDM4 | p.X26_splice | Splice_Site | DEL | 0.391 | 2 | - | - |
| MED14 | p.D619N | Missense | SNP | 1.000 | ND | ND | - |
| MED22 | - | - | - | - | 3 | Gain | - |
| MED27 | - | - | - | - | 3 | Gain | - |
| MED30 | - | - | - | - | 3 | Gain | - |
| MEGF8 | p.G1857R | Missense | SNP | 0.507 | 2 | - | - |
| MEGF9 | - | - | - | - | 3 | Gain | - |
| MELK | - | - | - | - | 3 | Gain | - |
| MEPCE | p.P127Lfs*29 | Frame_Shift_Del | DEL | 0.381 | 2 | - | - |
| MFSD14B | - | - | - | - | 3 | Gain | - |
| MFSD14C | - | - | - | - | 3 | Gain | - |
| MFSD3 | - | - | - | - | 3 | Gain | - |
| MFSD4A | p.G302R | Missense | SNP | 0.495 | 2 | - | - |
| MGAT4B | p.G6C | Missense | SNP | 0.570 | 2 | - | - |
| MGST3 | p.X12_splice | Splice_Site | SNP | 0.481 | 2 | - | - |
| MIA | p.A98V | Missense | SNP | 0.441 | 2 | - | - |
| MIB1 | p.S139Y | Missense | SNP | 0.500 | 2 | - | - |
| MID1 | p.P563L | Missense | SNP | 1.000 | ND | ND | - |
| MIGA2 | - | - | - | - | 3 | Gain | - |
| MIIP | p.R261H | Missense | SNP | 0.592 | 2 | - | - |
| MINA | p.L339Pfs*25 | Frame_Shift_Del | DEL | 0.667 | ND | ND | - |
| MINPP1 | p.L159P | Missense | SNP | 0.540 | 2 | - | - |
| MKL1 | p.A881T | Missense | SNP | 0.444 | ND | ND | - |
| MKL2 | p.X749_splice | Splice_Site | SNP | 0.375 | ND | ND | - |
| MKRN3 | p.A162Gfs*15 | Frame_Shift_Ins | INS | 0.279 | 2 | - | - |
| MLANA | - | - | - | - | 3 | Gain | - |
| MLH3 | p.N674Ifs*6 | Frame_Shift_Del | DEL | 0.579 | 2 | - | - |
| MLLT3 | p.R298Gfs*19 | Frame_Shift_Del | DEL | 0.550 | 3 | Gain | - |
| MLNR | p.T410M | Missense | SNP | 0.418 | 2 | - | - |
| MLXIP | p.D180Rfs*34 | Frame_Shift_Ins | INS | 0.322 | 2 | - | - |
| MLXIPL | p.R307C | Missense | SNP | 0.360 | 2 | - | - |
| MMP2 | p.L397P | Missense | SNP | 0.541 | 2 | - | - |
| MN1 | p.P271L | Missense | SNP | 0.525 | 2 | - | - |
| MNX1 | p.R268W | Missense | SNP | 0.489 | 2 | - | - |
| MOB3B | - | - | - | - | 3 | Gain | - |
| MOBP | p.R164H | Missense | SNP | 0.488 | 2 | - | - |
| MORN5 | - | - | - | - | 3 | Gain | - |
| MPDZ | p.S1023N | Missense | SNP | 0.712 | 3 | Gain | - |
| MPP2 | p.A541V | Missense | SNP | 0.655 | 2 | - | - |
| MPP3 | p.A15V | Missense | SNP | 0.400 | 2 | - | - |
| MPPED2 | p.T212I | Missense | SNP | 0.593 | 2 | - | - |
| MROH1 | - | - | - | - | 3 | Gain | - |
| MROH2A | p.E1462D | Missense | SNP | 0.513 | 2 | - | - |
| MROH2B | p.N342D | Missense | SNP | 0.471 | 2 | - | - |
| MROH5 | - | - | - | - | 3 | Gain | - |
| MROH6 | - | - | - | - | 3 | Gain | - |
| MRPL13 | - | - | - | - | 3 | Gain | - |
| MRPL28 | - | - | - | - | 1 | Loss | - |
| MRPL41 | - | - | - | - | 3 | Gain | - |
| MRPL50 | - | - | - | - | 3 | Gain | - |
| MRPL9 | p.R69Pfs*13 | Frame_Shift_Ins | INS | 0.230 | 2 | - | - |
| MRPS2 | - | - | - | - | 3 | Gain | - |
| MRRF | - | - | - | - | 3 | Gain | - |
| MSANTD3 | - | - | - | - | 3 | Gain | - |
| MSANTD3-TMEFF1 | - | - | - | - | 3 | Gain | - |
| MSH3 | p.K383Rfs*32 | Frame_Shift_Del | DEL | 0.462 | 2 | - | - |
| MSMP | - | - | - | - | 3 | Gain | - |
| MTAP | - | - | - | - | 3 | Gain | - |
| MTBP | - | - | - | - | 3 | Gain | - |
| MTSS1 | - | - | - | - | 3 | Gain | - |
| MTUS2 | p.L105P | Missense | SNP | 0.485 | 2 | - | - |
| MUC17 | p.T1152I p.T2499A | Missense Missense | SNP SNP | 0.525 0.432 | 2 | - | - |
| MUC21 | p.T143P | Missense | SNP | 0.427 | 2 | - | - |
| MUC4 | p.R4389Q p.P1712H | Missense Missense | SNP SNP | 0.577 0.275 | 2 | - | - |
| MUC5AC | p.E5060* p.G5514C | Nonsense Missense | SNP SNP | 0.437 0.424 | 2 | - | - |
| MUC5B | p.T2982M | Missense | SNP | 0.492 | 2 | - | - |
| MUM1 | p.S54Afs*7 | Frame_Shift_Del | DEL | 0.502 | 2 | - | - |
| MUSK | - | - | - | - | 3 | Gain | - |
| MVB12B | - | - | - | - | 3 | Gain | - |
| MXRA8 | p.R301Gfs*107 | Frame_Shift_Del | DEL | 0.458 | 2 | - | - |
| MYC | - | - | - | - | 3 | Gain | - |
| MYH13 | p.L1196P | Missense | SNP | 0.549 | 2 | - | - |
| MYH14 | p.Q192* | Nonsense | SNP | 0.535 | 2 | - | - |
| MYH8 | p.L946Rfs*3 p.Q1187P | Frame_Shift_Del Missense | DEL SNP | 0.731 0.456 | 2 | - | - |
| MYMK | - | - | - | - | 3 | Gain | - |
| MYO10 | p.S1226Lfs*25 | Frame_Shift_Ins | INS | 0.275 | 2 | - | - |
| MYO15A | p.Y322Tfs*122 | Frame_Shift_Del | DEL | 0.446 | 2 | - | - |
| MYO18B | p.S2331L | Missense | SNP | 0.461 | 2 | - | - |
| MYO7A | p.E1706V | Missense | SNP | 0.411 | 2 | - | - |
| MYOM2 | p.G516S | Missense | SNP | 0.492 | 2 | - | - |
| MYORG | - | - | - | - | 3 | Gain | - |
| MYPN | p.Q240P | Missense | SNP | 0.433 | 2 | - | - |
| MYPOP | p.P380Hfs*26 | Frame_Shift_Del | DEL | 0.471 | 2 | - | - |
| NAA35 | p.E201D | Missense | SNP | 0.513 | 3 | Gain | - |
| NAALAD2 | p.P648L | Missense | SNP | 0.447 | 2 | - | - |
| NAALADL1 | p.R198H | Missense | SNP | 0.500 | 2 | - | - |
| NACC2 | - | - | - | - | 3 | Gain | - |
| NAIF1 | - | - | - | - | 3 | Gain | - |
| NANS | - | - | - | - | 3 | Gain | - |
| NAPRT | - | - | - | - | 3 | Gain | - |
| NAT6 | p.L125I | Missense | SNP | 0.511 | ND | ND | - |
| NAV3 | p.D810V | Missense | SNP | 0.312 | 2 | - | - |
| NBAS | p.Y516H | Missense | SNP | 0.421 | 2 | - | - |
| NBN | p.K320T | Missense | SNP | 0.482 | 2 | - | - |
| NBPF6 | p.R515* | Nonsense | SNP | 1.000 | 2 | - | - |
| NCAM1 | p.T631M | Missense | SNP | 0.505 | 2 | - | - |
| NCBP1 | - | - | - | - | 3 | Gain | - |
| NCDN | p.G383V | Missense | SNP | 0.264 | 2 | - | - |
| NCKAP5 | p.T1018P | Missense | SNP | 0.375 | 2 | - | - |
| NCOA6 | p.R969W | Missense | SNP | 0.573 | 2 | - | - |
| NCOR1 | p.K528Rfs*7 | Frame_Shift_Del | DEL | 0.467 | 2 | - | - |
| NCS1 | - | - | - | - | 3 | Gain | - |
| NDN | p.P92L | Missense | SNP | 0.541 | 2 | - | - |
| NDOR1 | - | - | - | - | 3 | Gain | - |
| NDRG1 | - | - | - | - | 3 | Gain | - |
| NDUFA10 | p.H202Pfs*25 | Frame_Shift_Ins | INS | 0.305 | 2 | - | - |
| NDUFA8 | - | - | - | - | 3 | Gain | - |
| NDUFB10 | p.E74del | In_Frame_Del | DEL | 0.394 | 2 | - | - |
| NDUFB6 | - | - | - | - | 3 | Gain | - |
| NDUFB9 | - | - | - | - | 3 | Gain | - |
| NEB | p.X7888_splice | Splice_Site | SNP | 0.549 | 2 | - | - |
| NEK6 | - | - | - | - | 3 | Gain | - |
| NEK8 | p.R275W | Missense | SNP | 0.482 | 2 | - | - |
| NELFB | - | - | - | - | 3 | Gain | - |
| NEURL1 | p.N163Kfs*2 | Frame_Shift_Ins | INS | 0.321 | 2 | - | - |
| NEURL4 | p.P220H | Missense | SNP | 0.484 | 2 | - | - |
| NFIB | - | - | - | - | 3 | Gain | - |
| NFIL3 | - | - | - | - | 3 | Gain | - |
| NFKBIB | p.L292I | Missense | SNP | 0.516 | 2 | - | - |
| NFX1 | - | - | - | - | 3 | Gain | - |
| NGEF | p.R354H | Missense | SNP | 0.552 | 2 | - | - |
| NGRN | p.V27Wfs*31 | Frame_Shift_Del | DEL | 0.515 | 2 | - | - |
| NIFK | p.R287Dfs*23 | Frame_Shift_Del | DEL | 0.471 | 2 | - | - |
| NIN | p.L1963P | Missense | SNP | 0.379 | 2 | - | - |
| NINJ1 | - | - | - | - | 3 | Gain | - |
| NIPSNAP3A | - | - | - | - | 3 | Gain | - |
| NIPSNAP3B | - | - | - | - | 3 | Gain | - |
| NKAPL | p.M391I | Missense | SNP | 0.443 | 2 | - | - |
| NKX2-2 | p.D124Gfs*186 | Frame_Shift_Ins | INS | 0.248 | 2 | - | - |
| NKX6-1 | p.S49Pfs*24 | Frame_Shift_Del | DEL | 0.418 | 2 | - | - |
| NLRP9 | p.K264Rfs*12 | Frame_Shift_Del | DEL | 0.490 | 2 | - | - |
| NME4 | - | - | - | - | 1 | Loss | - |
| NMRAL1 | - | - | - | - | 2 | - | NMRAL1--RNA5-8SN2 |
| NMRK1 | - | - | - | - | 3 | Gain | - |
| NOL6 | - | - | - | - | 3 | Gain | - |
| NOL8 | - | - | - | - | 3 | Gain | - |
| NOS1 | p.G676Afs*64 | Frame_Shift_Del | DEL | 0.490 | 2 | - | - |
| NOS3 | p.R1154H | Missense | SNP | 0.500 | 2 | - | - |
| NOTCH1 | - | - | - | - | 3 | Gain | - |
| NOTCH4 | p.T350Hfs*4 | Frame_Shift_Ins | INS | 0.238 | 2 | - | - |
| NOV | - | - | - | - | 3 | Gain | - |
| NOXA1 | - | - | - | - | 3 | Gain | - |
| NPAP1 | p.C607* | Nonsense | SNP | 0.483 | 2 | - | - |
| NPDC1 | - | - | - | - | 3 | Gain | - |
| NPHP4 | p.A578T | Missense | SNP | 0.531 | 2 | - | - |
| NPR2 | - | - | - | - | 3 | Gain | - |
| NPSR1 | p.Y219C | Missense | SNP | 0.438 | 2 | - | - |
| NPY2R | p.L305H | Missense | SNP | 0.475 | 2 | - | - |
| NR1I2 | p.G178R | Missense | SNP | 0.543 | 2 | - | - |
| NR4A3 | - | - | - | - | 3 | Gain | - |
| NR5A1 | - | - | - | - | 3 | Gain | - |
| NR6A1 | - | - | - | - | 3 | Gain | - |
| NRARP | - | - | - | - | 3 | Gain | - |
| NRBP2 | - | - | - | - | 3 | Gain | - |
| NRG1 | p.I323L | Missense | SNP | 0.442 | 2 | - | - |
| NSMCE2 | - | - | - | - | 3 | Gain | - |
| NSMF | - | - | - | - | 3 | Gain | - |
| NT5C1B | p.Q218K | Missense | SNP | 0.409 | 2 | - | - |
| NTMT1 | - | - | - | - | 3 | Gain | - |
| NTNG2 | p.A343T | Missense | SNP | 0.272 | 3 | Gain | - |
| NTRK1 | p.R104C | Missense | SNP | 0.400 | 2 | - | - |
| NTRK2 | p.G427S | Missense | SNP | 0.538 | 3 | Gain | - |
| NTRK3 | p.T283M | Missense | SNP | 0.593 | 2 | - | - |
| NUDT2 | - | - | - | - | 3 | Gain | - |
| NUP188 | - | - | - | - | 3 | Gain | - |
| NUP214 | - | - | - | - | 3 | Gain | - |
| NUP85 | p.M142T | Missense | SNP | 0.377 | 2 | - | - |
| NUP98 | p.P1201H | Missense | SNP | 0.480 | 2 | - | - |
| NUTM2F | - | - | - | - | 3 | Gain | - |
| NUTM2G | - | - | - | - | 3 | Gain | - |
| NWD2 | p.W1259Gfs*22 | Frame_Shift_Del | DEL | 0.534 | 2 | - | - |
| NXNL2 | - | - | - | - | 3 | Gain | - |
| NXPE1 | p.F134Sfs*10 | Frame_Shift_Del | DEL | 0.640 | 2 | - | - |
| OBFC1 | p.G278Dfs*16 | Frame_Shift_Del | DEL | 0.619 | ND | ND | - |
| OBP2A | - | - | - | - | 3 | Gain | - |
| OBP2B | - | - | - | - | 3 | Gain | - |
| OBSCN | p.D4537Tfs*5 p.A7950Pfs*79 p.M2505T p.F5226S | Frame_Shift_Del Frame_Shift_Del Missense Missense | DEL DEL SNP SNP | 0.348 0.430 0.368 0.469 | 2 | - | - |
| OC90 | - | - | - | - | 3 | Gain | - |
| ODF2 | p.T710A | Missense | SNP | 0.133 | 3 | Gain | - |
| ODF3L2 | p.R218Pfs*33 | Frame_Shift_Del | DEL | 0.562 | 2 | - | - |
| OGN | - | - | - | - | 3 | Gain | - |
| OLFM1 | - | - | - | - | 3 | Gain | - |
| OLFM2 | p.V357A | Missense | SNP | 0.475 | 2 | - | - |
| OLFML2A | - | - | - | - | 3 | Gain | - |
| OLIG2 | p.A209V | Missense | SNP | 0.737 | 2 | - | - |
| OMD | - | - | - | - | 3 | Gain | - |
| OPLAH | p.G60D | Missense | SNP | 0.362 | 3 | Gain | - |
| OPTN | p.H26Tfs*19 | Frame_Shift_Del | DEL | 0.526 | 2 | - | - |
| OR13C2 | - | - | - | - | 3 | Gain | - |
| OR13C3 | - | - | - | - | 3 | Gain | - |
| OR13C4 | - | - | - | - | 3 | Gain | - |
| OR13C5 | - | - | - | - | 3 | Gain | - |
| OR13C8 | p.Y132C | Missense | SNP | 0.384 | 3 | Gain | - |
| OR13C9 | - | - | - | - | 3 | Gain | - |
| OR13D1 | - | - | - | - | 3 | Gain | - |
| OR13F1 | - | - | - | - | 3 | Gain | - |
| OR13J1 | - | - | - | - | 3 | Gain | - |
| OR1B1 | - | - | - | - | 3 | Gain | - |
| OR1J1 | - | - | - | - | 3 | Gain | - |
| OR1J2 | - | - | - | - | 3 | Gain | - |
| OR1J4 | - | - | - | - | 3 | Gain | - |
| OR1K1 | - | - | - | - | 3 | Gain | - |
| OR1L1 | - | - | - | - | 3 | Gain | - |
| OR1L3 | - | - | - | - | 3 | Gain | - |
| OR1L4 | - | - | - | - | 3 | Gain | - |
| OR1L6 | - | - | - | - | 3 | Gain | - |
| OR1L8 | - | - | - | - | 3 | Gain | - |
| OR1N1 | - | - | - | - | 3 | Gain | - |
| OR1N2 | - | - | - | - | 3 | Gain | - |
| OR1Q1 | - | - | - | - | 3 | Gain | - |
| OR1S1 | p.I268T | Missense | SNP | 0.211 | 2 | - | - |
| OR2B6 | p.N155I | Missense | SNP | 0.500 | 2 | - | - |
| OR2K2 | - | - | - | - | 3 | Gain | - |
| OR2S2 | p.A4Pfs*7 | Frame_Shift_Del | DEL | 0.349 | 3 | Gain | - |
| OR2T33 | p.F59V | Missense | SNP | 0.625 | 2 | - | - |
| OR4E2 | p.Y123C | Missense | SNP | 0.539 | 2 | - | - |
| OR51I2 | p.Q47* | Nonsense | SNP | 0.458 | 2 | - | - |
| OR5C1 | - | - | - | - | 3 | Gain | - |
| OR5H15 | p.L61S | Missense | SNP | 0.298 | 2 | - | - |
| OR5H2 | p.V45M | Missense | SNP | 0.510 | 2 | - | - |
| OR5M9 | p.V23A | Missense | SNP | 0.257 | 2 | - | - |
| OR5V1 | p.S91Afs*18 p.F178L | Frame_Shift_Del Missense | DEL SNP | 0.394 0.527 | 2 | - | - |
| OR6C75 | p.L200* | Frame_Shift_Del | DEL | 0.478 | 2 | - | - |
| OR6K6 | p.F279Lfs*9 | Frame_Shift_Del | DEL | 0.396 | 2 | - | - |
| OR7C1 | p.F104Sfs*12 | Frame_Shift_Del | DEL | 0.439 | 2 | - | - |
| OR7C2 | p.C179Vfs*7 | Frame_Shift_Del | DEL | 0.415 | 2 | - | - |
| OR8D4 | p.F104Sfs*48 | Frame_Shift_Del | DEL | 0.422 | 2 | - | - |
| OR8J2 | p.F62Sfs*73 | Frame_Shift_Del | DEL | 0.500 | ND | ND | - |
| OR8U1 | p.T106A | Missense | SNP | 0.413 | 2 | - | - |
| ORM1 | - | - | - | - | 3 | Gain | - |
| ORM2 | - | - | - | - | 3 | Gain | - |
| OSBPL1A | p.K894Nfs*71 | Frame_Shift_Del | DEL | 0.469 | 2 | - | - |
| OSTF1 | - | - | - | - | 3 | Gain | - |
| OTOGL | p.Y1637H | Missense | SNP | 0.448 | 2 | - | - |
| OTUD4 | p.Q1047* | Nonsense | SNP | 0.521 | 2 | - | - |
| OTUD7A | p.A730T | Missense | SNP | 0.765 | 2 | - | - |
| P2RX2 | p.R218H | Missense | SNP | 0.511 | 2 | - | - |
| PAEP | - | - | - | - | 3 | Gain | - |
| PALM2 | - | - | - | - | 3 | Gain | - |
| PALM2-AKAP2 | p.Q569R | Missense | SNP | 0.225 | 3 | Gain | - |
| PAPPA | - | - | - | - | 3 | Gain | - |
| PARL | p.F330Lfs*23 | Frame_Shift_Del | DEL | 0.315 | 2 | - | - |
| PARN | p.R505Q | Missense | SNP | 0.383 | 2 | - | - |
| PARP10 | p.L80P | Missense | SNP | 0.306 | 3 | Gain | - |
| PAX5 | - | - | - | - | 3 | Gain | - |
| PAXBP1 | p.K231Sfs*43 | Frame_Shift_Del | DEL | 0.461 | 2 | - | - |
| PAXX | - | - | - | - | 3 | Gain | - |
| PBDC1 | p.E14Gfs*21 | Frame_Shift_Ins | INS | 0.492 | ND | ND | - |
| PBX3 | - | - | - | - | 3 | Gain | - |
| PCDH11Y | p.N405Y | Missense | SNP | 1.000 | ND | ND | - |
| PCDH12 | p.X993_splice | Splice_Site | SNP | 0.292 | 2 | - | - |
| PCDH17 | p.R646H | Missense | SNP | 0.464 | 2 | - | - |
| PCDHA7 | p.C68Y p.A512V | Missense Missense | SNP SNP | 0.391 0.440 | 2 | - | - |
| PCDHAC2 | p.R212H | Missense | SNP | 0.547 | 2 | - | - |
| PCDHB5 | p.R535H | Missense | SNP | 0.240 | 2 | - | - |
| PCDHGA4 | p.C733Y | Missense | SNP | 0.539 | 2 | - | - |
| PCDHGB6 | p.G571S | Missense | SNP | 0.538 | 2 | - | - |
| PCED1A | p.P424Afs*57 | Frame_Shift_Ins | INS | 0.306 | 2 | - | - |
| PCF11 | p.E1410* | Frame_Shift_Ins | INS | 0.356 | 2 | - | - |
| PCGF2 | p.M55T | Missense | SNP | 0.459 | 2 | - | - |
| PCLO | p.K5063Rfs*2 p.T4442I | Frame_Shift_Del Missense | DEL SNP | 0.381 0.500 | 2 | - | - |
| PCSK1 | p.Y729Ifs*21 | Frame_Shift_Del | DEL | 0.545 | 2 | - | - |
| PCSK5 | - | - | - | - | 3 | Gain | - |
| PCSK9 | p.X267_splice | Splice_Site | SNP | 0.667 | 2 | - | - |
| PDCD1LG2 | - | - | - | - | 3 | Gain | - |
| PDCL | - | - | - | - | 3 | Gain | - |
| PDGFD | p.R262K | Missense | SNP | 0.455 | 2 | - | - |
| PDIA2 | - | - | - | - | 1 | Loss | - |
| PDIA5 | p.P386Rfs*26 | Frame_Shift_Del | DEL | 0.429 | 2 | - | - |
| PDILT | p.A345T | Missense | SNP | 0.542 | 2 | - | - |
| PDLIM2 | p.R556H | Missense | SNP | 0.627 | 2 | - | - |
| PDZD2 | p.K104Qfs*38 | Frame_Shift_Ins | INS | 0.283 | 2 | - | - |
| PEBP4 | p.A84T | Missense | SNP | 0.655 | 2 | - | - |
| PEX26 | p.I199T | Missense | SNP | 0.567 | 2 | - | - |
| PEX3 | p.N95Tfs*7 | Frame_Shift_Del | DEL | 0.529 | 2 | - | - |
| PFKFB2 | p.R60H | Missense | SNP | 0.400 | 2 | - | - |
| PFN4 | p.G128Efs*38 | Frame_Shift_Del | DEL | 0.667 | 2 | - | - |
| PGGT1B | p.S241Ffs*25 | Frame_Shift_Ins | INS | 0.368 | 2 | - | - |
| PGK2 | p.G187R | Missense | SNP | 0.427 | 2 | - | - |
| PGM5 | - | - | - | - | 3 | Gain | - |
| PGR | p.K73M | Missense | SNP | 0.531 | 2 | - | - |
| PHF12 | p.L990Qfs*60 | Frame_Shift_Del | DEL | 0.438 | 2 | - | - |
| PHF19 | - | - | - | - | 3 | Gain | - |
| PHF2 | p.K492Rfs*6 | Frame_Shift_Del | DEL | 0.309 | 3 | Gain | - |
| PHF20L1 | p.N322Mfs*42 | Frame_Shift_Del | DEL | 0.329 | 3 | Gain | - |
| PHF24 | - | - | - | - | 3 | Gain | - |
| PHLDA1 | p.M256V | Missense | SNP | 0.505 | 2 | - | - |
| PHPT1 | - | - | - | - | 3 | Gain | - |
| PHYHD1 | - | - | - | - | 3 | Gain | - |
| PIBF1 | p.R469C | Missense | SNP | 0.667 | 2 | - | - |
| PIEZO1 | p.W1717L | Missense | SNP | 0.531 | 2 | - | - |
| PIEZO2 | p.F248Lfs*36 p.F182L | Frame_Shift_Del Missense | DEL SNP | 0.408 0.508 | 2 | - | - |
| PIGK | p.W364* | Nonsense | SNP | 0.509 | 2 | - | - |
| PIGO | p.T788Lfs*25 | Frame_Shift_Del | DEL | 0.346 | 3 | Gain | - |
| PIK3CA | p.E545A | Missense | SNP | 0.452 | 2 | - | - |
| PIKFYVE | p.P1480S | Missense | SNP | 0.506 | 2 | - | - |
| PIP4K2A | p.E299G | Missense | SNP | 0.440 | 2 | - | - |
| PIP5K1B | - | - | - | - | 3 | Gain | - |
| PIP5KL1 | - | - | - | - | 3 | Gain | - |
| PKD1L1 | p.P780Lfs*4 | Frame_Shift_Del | DEL | 0.457 | 2 | - | - |
| PKD1L3 | p.I1369Nfs*8 | Frame_Shift_Ins | INS | 0.333 | 2 | - | - |
| PKHD1L1 | p.A894V | Missense | SNP | 0.535 | 2 | - | - |
| PKN2 | p.L720Wfs*2 | Frame_Shift_Del | DEL | 0.548 | 2 | - | - |
| PKN3 | - | - | - | - | 3 | Gain | - |
| PLA2G3 | p.Q495R | Missense | SNP | 0.450 | 2 | - | - |
| PLA2G4C | p.E47D | Missense | SNP | 0.471 | 2 | - | - |
| PLA2R1 | p.G1374Afs*32 | Frame_Shift_Del | DEL | 0.530 | 2 | - | - |
| PLAA | - | - | - | - | 3 | Gain | - |
| PLBD2 | p.Q498Sfs*36 | Frame_Shift_Del | DEL | 0.423 | 2 | - | - |
| PLCB3 | p.D96G | Missense | SNP | 0.548 | 2 | - | - |
| PLEC | - | - | - | - | 3 | Gain | - |
| PLEK2 | p.P233H | Missense | SNP | 0.521 | 2 | - | - |
| PLEKHA1 | - | - | - | - | 1 | Loss | - |
| PLEKHA7 | p.F802Sfs*21 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
| PLEKHG1 | p.P585T | Missense | SNP | 0.582 | 2 | - | - |
| PLEKHG3 | p.E740* | Nonsense | SNP | 0.512 | 2 | - | - |
| PLEKHG4B | p.R1269C | Missense | SNP | 0.757 | 2 | - | - |
| PLEKHH1 | p.R979H | Missense | SNP | 0.537 | 2 | - | - |
| PLEKHH2 | p.E224D | Missense | SNP | 0.515 | 2 | - | - |
| PLGRKT | - | - | - | - | 3 | Gain | - |
| PLIN2 | - | - | - | - | 3 | Gain | - |
| PLPP2 | p.R145K | Missense | SNP | 0.477 | 2 | - | - |
| PLPP6 | - | - | - | - | 3 | Gain | - |
| PLPP7 | - | - | - | - | 3 | Gain | - |
| PLPPR1 | - | - | - | - | 3 | Gain | - |
| PLXNA1 | p.T1615A | Missense | SNP | 0.453 | 2 | - | - |
| PLXNA3 | p.X1196_splice | Splice_Site | SNP | 1.000 | ND | ND | - |
| PMPCA | - | - | - | - | 3 | Gain | - |
| PNPLA6 | p.T1305Rfs*17 p.R499H | Frame_Shift_Del Missense | DEL SNP | 0.492 0.523 | 2 | - | - |
| PNPLA7 | p.I1200Sfs*148 | Frame_Shift_Del | DEL | 0.253 | 3 | Gain | - |
| POLD3 | p.R300Kfs*9 | Frame_Shift_Ins | INS | 0.301 | 2 | - | - |
| POLE | p.K1926N | Missense | SNP | 0.440 | 2 | - | - |
| POLE3 | - | - | - | - | 3 | Gain | - |
| POLR1A | p.D1691N p.A608T | Missense Missense | SNP SNP | 0.543 0.562 | 2 | - | - |
| POLR1E | - | - | - | - | 3 | Gain | - |
| POLR2A | p.P1806Lfs*108 | Frame_Shift_Del | DEL | 0.466 | 2 | - | - |
| POLR3G | p.M145Wfs*90 | Frame_Shift_Del | DEL | 0.516 | 2 | - | - |
| POMT1 | - | - | - | - | 3 | Gain | - |
| POTEF | p.R728Gfs*16 | Frame_Shift_Del | DEL | 0.485 | 2 | - | - |
| POU3F3 | p.D66Tfs*26 | Frame_Shift_Del | DEL | 0.505 | 2 | - | - |
| POU5F1 | p.I184V | Missense | SNP | 0.442 | 2 | - | - |
| POU5F1B | - | - | - | - | 3 | Gain | - |
| PPFIA2 | p.R1112* | Nonsense | SNP | 0.400 | 2 | - | - |
| PPM1L | p.R14H | Missense | SNP | 0.442 | 2 | - | - |
| PPP1R16A | - | - | - | - | 3 | Gain | - |
| PPP1R1C | p.I35S | Missense | SNP | 0.458 | 2 | - | - |
| PPP1R26 | p.V898Sfs*56 | Frame_Shift_Del | DEL | 0.256 | 3 | Gain | - |
| PPP2R5B | p.F175S | Missense | SNP | 0.406 | 2 | - | - |
| PPP3R2 | - | - | - | - | 3 | Gain | - |
| PPP6C | - | - | - | - | 3 | Gain | - |
| PPT1 | p.M57Wfs*14 | Frame_Shift_Del | DEL | 0.529 | 2 | - | - |
| PPWD1 | p.H522R | Missense | SNP | 0.485 | 2 | - | - |
| PRDM12 | - | - | - | - | 3 | Gain | - |
| PRKACG | - | - | - | - | 3 | Gain | - |
| PRKAR2A | p.N142Kfs*3 | Frame_Shift_Ins | INS | 0.395 | 2 | - | - |
| PRKCA | p.K559Nfs*14 | Frame_Shift_Del | DEL | 0.495 | 2 | - | - |
| PRKDC | p.R2143H | Missense | SNP | 0.250 | 2 | - | - |
| PRMT9 | p.H244Tfs*43 | Frame_Shift_Ins | INS | 0.289 | 2 | - | - |
| PROX2 | p.L253R | Missense | SNP | 0.631 | 2 | - | - |
| PRPF4 | - | - | - | - | 3 | Gain | - |
| PRR32 | p.R201* | Nonsense | SNP | 1.000 | ND | ND | - |
| PRRC2B | - | - | - | - | 3 | Gain | - |
| PRRC2C | p.A1730T | Missense | SNP | 0.490 | 2 | - | - |
| PRRT1B | - | - | - | - | 3 | Gain | - |
| PRRT2 | p.A320T | Missense | SNP | 0.500 | 2 | - | - |
| PRRX2 | - | - | - | - | 3 | Gain | - |
| PRSS21 | p.S238P | Missense | SNP | 0.638 | 2 | - | - |
| PRSS3 | - | - | - | - | 3 | Gain | - |
| PRSS53 | p.G380Afs*13 | Frame_Shift_Del | DEL | 0.412 | 2 | - | - |
| PRUNE2 | - | - | - | - | 3 | Gain | - |
| PRXL2C | - | - | - | - | 3 | Gain | - |
| PSAT1 | - | - | - | - | 3 | Gain | - |
| PSCA | p.S51N | Missense | SNP | 0.647 | 3 | Gain | - |
| PSD4 | p.T777A | Missense | SNP | 0.505 | 2 | - | - |
| PSEN1 | p.S178Ffs*10 | Frame_Shift_Ins | INS | 0.357 | 2 | - | - |
| PSG6 | p.M240V | Missense | SNP | 0.463 | 2 | - | - |
| PSIP1 | - | - | - | - | 3 | Gain | - |
| PSMB7 | - | - | - | - | 3 | Gain | - |
| PSMB9 | p.D71G | Missense | SNP | 0.523 | 2 | - | - |
| PSMD5 | - | - | - | - | 3 | Gain | - |
| PSME4 | p.T1805Pfs*69 | Frame_Shift_Del | DEL | 0.424 | 2 | - | - |
| PTAR1 | - | - | - | - | 3 | Gain | - |
| PTBP3 | - | - | - | - | 3 | Gain | - |
| PTCH1 | p.V674Gfs*19 | Frame_Shift_Del | DEL | 0.402 | 3 | Gain | - |
| PTGDS | - | - | - | - | 3 | Gain | - |
| PTGES | - | - | - | - | 3 | Gain | - |
| PTGES2 | - | - | - | - | 3 | Gain | - |
| PTGR1 | - | - | - | - | 3 | Gain | - |
| PTGS1 | - | - | - | - | 3 | Gain | - |
| PTK2 | - | - | - | - | 3 | Gain | - |
| PTP4A3 | - | - | - | - | 3 | Gain | - |
| PTPA | - | - | - | - | 3 | Gain | - |
| PTPDC1 | - | - | - | - | 3 | Gain | - |
| PTPN21 | p.I849Lfs*9 | Frame_Shift_Del | DEL | 0.516 | 2 | - | - |
| PTPN3 | - | - | - | - | 3 | Gain | - |
| PTPRD | - | - | - | - | 3 | Gain | - |
| PTPRE | p.R431G | Missense | SNP | 0.528 | 2 | - | - |
| PTPRF | p.Q1762* | Nonsense | SNP | 0.472 | 2 | - | - |
| PTPRG | p.N119Tfs*10 | Frame_Shift_Del | DEL | 0.432 | 2 | - | - |
| PTPRN2 | p.V133I | Missense | SNP | 0.490 | 2 | - | - |
| PTPRO | p.L481F | Missense | SNP | 0.550 | 2 | - | - |
| PTPRQ | p.G130D | Missense | SNP | 0.395 | 2 | - | - |
| PTRH1 | - | - | - | - | 3 | Gain | - |
| PTX3 | p.Y379N | Missense | SNP | 0.462 | 2 | - | - |
| PUF60 | - | - | - | - | 3 | Gain | - |
| PUM3 | - | - | - | - | 3 | Gain | - |
| PUS7 | p.N333Tfs*3 | Frame_Shift_Del | DEL | 0.424 | 2 | - | - |
| PWWP2B | - | - | - | - | 1 | Loss | - |
| PYCR3 | - | - | - | - | 3 | Gain | - |
| QKI | p.Y328H | Missense | SNP | 0.382 | 2 | - | - |
| QRFP | - | - | - | - | 3 | Gain | - |
| QSOX2 | - | - | - | - | 3 | Gain | - |
| RAB11B | p.L38M | Missense | SNP | 0.494 | 2 | - | - |
| RAB14 | - | - | - | - | 3 | Gain | - |
| RAB21 | p.V23L | Missense | SNP | 0.467 | 2 | - | - |
| RAB36 | p.K122Nfs*77 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
| RAB42 | p.G81Vfs*119 | Frame_Shift_Del | DEL | 0.442 | 2 | - | - |
| RABEPK | - | - | - | - | 3 | Gain | - |
| RABGAP1 | - | - | - | - | 3 | Gain | - |
| RABL6 | - | - | - | - | 3 | Gain | - |
| RAD21 | - | - | - | - | 3 | Gain | - |
| RAD23B | - | - | - | - | 3 | Gain | - |
| RALGAPA1 | p.P896H | Missense | SNP | 0.341 | 2 | - | - |
| RALGDS | - | - | - | - | 3 | Gain | - |
| RALGPS1 | - | - | - | - | 3 | Gain | - |
| RANBP6 | - | - | - | - | 3 | Gain | - |
| RAPGEF1 | - | - | - | - | 3 | Gain | - |
| RAPGEF2 | p.L1317R | Missense | SNP | 0.532 | 2 | - | - |
| RAPGEF6 | p.S1373G | Missense | SNP | 0.490 | 2 | - | - |
| RARRES1 | p.H102Q | Missense | SNP | 0.482 | 2 | - | - |
| RASAL3 | p.A771P | Missense | SNP | 0.500 | 2 | - | - |
| RASEF | - | - | - | - | 3 | Gain | - |
| RASGRP4 | p.N381S | Missense | SNP | 0.429 | 2 | - | - |
| RASIP1 | p.R70W | Missense | SNP | 0.433 | 2 | - | - |
| RASL10A | p.R110H | Missense | SNP | 0.500 | 2 | - | - |
| RBBP8 | p.K357Nfs*3 | Frame_Shift_Del | DEL | 0.370 | 2 | - | - |
| RBM12 | p.K637R | Missense | SNP | 0.435 | 2 | - | - |
| RBM18 | - | - | - | - | 3 | Gain | - |
| RBM20 | p.A29V | Missense | SNP | 0.654 | 2 | - | - |
| RBM47 | p.G61S | Missense | SNP | 0.535 | 2 | - | - |
| RBP3 | p.Q627H | Missense | SNP | 0.585 | 2 | - | - |
| RC3H2 | - | - | - | - | 3 | Gain | - |
| RCL1 | - | - | - | - | 3 | Gain | - |
| RCN3 | p.Y125H | Missense | SNP | 0.459 | 2 | - | - |
| RECK | - | - | - | - | 3 | Gain | - |
| RECQL | p.V41Sfs*2 | Frame_Shift_Del | DEL | 0.429 | 2 | - | - |
| RECQL4 | - | - | - | - | 3 | Gain | - |
| REXO4 | - | - | - | - | 3 | Gain | - |
| RFK | - | - | - | - | 3 | Gain | - |
| RFX3 | p.Q518H | Missense | SNP | 0.661 | 3 | Gain | - |
| RGP1 | - | - | - | - | 3 | Gain | - |
| RGS11 | - | - | - | - | 1 | Loss | - |
| RGS12 | p.G1291Rfs*45 | Frame_Shift_Ins | INS | 0.258 | 2 | - | - |
| RGS22 | p.K518T | Missense | SNP | 0.447 | 2 | - | - |
| RGS3 | - | - | - | - | 3 | Gain | - |
| RGS9BP | p.G205Vfs*23 | Frame_Shift_Del | DEL | 0.415 | 2 | - | - |
| RHCE | p.V32Dfs*9 p.L387H | Frame_Shift_Ins Missense | INS SNP | 0.256 0.570 | 2 | - | - |
| RHOB | p.R70W | Missense | SNP | 0.497 | 2 | - | - |
| RHOU | p.N210Tfs*34 | Frame_Shift_Del | DEL | 0.449 | 2 | - | - |
| RHPN1 | - | - | - | - | 3 | Gain | - |
| RIC1 | p.L1156* | Frame_Shift_Del | DEL | 0.586 | 3 | Gain | - |
| RIMS1 | p.R8H | Missense | SNP | 0.429 | 2 | - | - |
| RIMS2 | p.H303N | Missense | SNP | 0.510 | 2 | - | - |
| RIN2 | p.P626H | Missense | SNP | 0.489 | 2 | - | - |
| RINT1 | p.N109Mfs*28 | Frame_Shift_Del | DEL | 0.463 | 2 | - | - |
| RLN1 | - | - | - | - | 3 | Gain | - |
| RLN2 | - | - | - | - | 3 | Gain | - |
| RMI1 | - | - | - | - | 3 | Gain | - |
| RNA5-8SN2 | - | - | - | - | ND | ND | NMRAL1--RNA5-8SN2 |
| RNF103 | p.K670Sfs*27 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
| RNF113B | p.R67Gfs*88 | Frame_Shift_Del | DEL | 0.482 | 2 | - | - |
| RNF123 | p.S711R | Missense | SNP | 0.477 | 2 | - | - |
| RNF139 | - | - | - | - | 3 | Gain | - |
| RNF17 | p.K605N | Missense | SNP | 0.541 | 2 | - | - |
| RNF183 | - | - | - | - | 3 | Gain | - |
| RNF20 | - | - | - | - | 3 | Gain | - |
| RNF208 | - | - | - | - | 3 | Gain | - |
| RNF216 | p.R526C | Missense | SNP | 0.553 | 2 | - | - |
| RNF224 | - | - | - | - | 3 | Gain | - |
| RNF38 | - | - | - | - | 3 | Gain | - |
| RNF43 | p.P370Hfs*49 p.R117Afs*41 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.443 0.383 | 2 | - | - |
| RNGTT | p.K555R | Missense | SNP | 0.516 | 2 | - | - |
| ROCK1 | p.K1307Nfs*3 | Frame_Shift_Del | DEL | 0.319 | 2 | - | - |
| ROR2 | - | - | - | - | 3 | Gain | - |
| RORB | - | - | - | - | 3 | Gain | - |
| ROS1 | p.L1167* | Frame_Shift_Del | DEL | 0.471 | 2 | - | - |
| RP1 | p.G461S | Missense | SNP | 0.534 | 2 | - | - |
| RP11-656G20.1 | . | Splice_Site | SNP | 0.476 | ND | ND | - |
| RP11-766F14.2 | p.Q354H | Missense | SNP | 0.408 | ND | ND | - |
| RP1L1 | p.G290D | Missense | SNP | 0.411 | 2 | - | - |
| RPE65 | p.N356Mfs*17 | Frame_Shift_Del | DEL | 0.422 | 2 | - | - |
| RPL12 | p.V42Lfs*15 | Frame_Shift_Del | DEL | 0.246 | 3 | Gain | - |
| RPL14P1 | - | - | - | - | ND | ND | ATXN8OS--RPL14P1 |
| RPL17 | - | - | - | - | 2 | - | RPL17--RPL17P12 |
| RPL17P12 | - | - | - | - | ND | ND | RPL17--RPL17P12 |
| RPL22 | p.K15Rfs*5 | Frame_Shift_Del | DEL | 0.970 | 2 | - | - |
| RPL23A | p.L25R | Missense | SNP | 0.486 | 2 | - | - |
| RPL35 | - | - | - | - | 3 | Gain | - |
| RPL7A | - | - | - | - | 3 | Gain | - |
| RPL8 | - | - | - | - | 3 | Gain | - |
| RPLP0 | p.V237A | Missense | SNP | 0.463 | 2 | - | - |
| RPP25L | - | - | - | - | 3 | Gain | - |
| RPS18 | p.H11Y | Missense | SNP | 0.525 | 2 | - | - |
| RPS6 | - | - | - | - | 3 | Gain | - |
| RRAGA | - | - | - | - | 3 | Gain | - |
| RRP12 | p.C326R | Missense | SNP | 0.667 | 2 | - | - |
| RRP9 | p.E70del | In_Frame_Del | DEL | 0.506 | 2 | - | - |
| RSBN1L | p.K214Rfs*5 | Frame_Shift_Del | DEL | 0.542 | 2 | - | - |
| RSPH9 | p.R241S | Missense | SNP | 0.571 | 2 | - | - |
| RSPRY1 | p.R351C | Missense | SNP | 0.174 | 2 | - | - |
| RSRP1 | p.Y105H | Missense | SNP | 0.484 | 2 | - | - |
| RTCB | p.M246Nfs*6 | Frame_Shift_Ins | INS | 0.295 | 2 | - | - |
| RTKN2 | p.I450Lfs*67 | Frame_Shift_Del | DEL | 0.435 | 2 | - | - |
| RTL1 | p.R835W | Missense | SNP | 0.500 | 2 | - | - |
| RUSC2 | - | - | - | - | 3 | Gain | - |
| RXFP3 | p.R406H | Missense | SNP | 0.588 | 2 | - | - |
| RXRA | - | - | - | - | 3 | Gain | - |
| RYR1 | p.R177C p.V4153A | Missense Missense | SNP SNP | 0.422 0.422 | 2 | - | - |
| RYR3 | p.K799R | Missense | SNP | 0.548 | 2 | - | - |
| S1PR3 | - | - | - | - | 3 | Gain | - |
| SACS | p.R3785Kfs*25 | Frame_Shift_Ins | INS | 0.313 | 2 | - | - |
| SALL2 | p.A55T | Missense | SNP | 0.559 | 2 | - | - |
| SAMD12 | - | - | - | - | 3 | Gain | - |
| SAP130 | p.V823G | Missense | SNP | 0.463 | 2 | - | - |
| SAPCD2 | - | - | - | - | 3 | Gain | - |
| SARDH | - | - | - | - | 3 | Gain | - |
| SARS2 | p.R342Gfs*17 | Frame_Shift_Del | DEL | 0.495 | 2 | - | - |
| SAXO1 | - | - | - | - | 3 | Gain | - |
| SCAF1 | p.T1181Pfs*28 | Frame_Shift_Del | DEL | 0.483 | 2 | - | - |
| SCAF8 | p.L1062* | Frame_Shift_Del | DEL | 0.517 | 2 | - | - |
| SCAI | - | - | - | - | 3 | Gain | - |
| SCLT1 | p.A541Pfs*3 p.A424Qfs*6 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.219 0.395 | 2 | - | - |
| SCN1A | p.L331* p.A104T | Frame_Shift_Del Missense | DEL SNP | 0.600 0.567 | 2 | - | - |
| SCN2A | p.K496N p.A1809V | Missense Missense | SNP SNP | 0.457 0.427 | 2 | - | - |
| SCN5A | p.A185T | Missense | SNP | 0.507 | 2 | - | - |
| SCRIB | p.P1096Rfs*44 | Frame_Shift_Del | DEL | 0.328 | 3 | Gain | - |
| SCRT1 | - | - | - | - | 3 | Gain | - |
| SCX | - | - | - | - | 3 | Gain | - |
| SDAD1 | p.L187P | Missense | SNP | 0.600 | 2 | - | - |
| SEC16A | - | - | - | - | 3 | Gain | - |
| SEC22B | p.A184T | Missense | SNP | 0.536 | 2 | - | - |
| SEC24C | p.Q459Sfs*32 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
| SEC61A2 | p.N241S | Missense | SNP | 0.488 | 2 | - | - |
| SEC61B | p.M55Cfs*22 | Frame_Shift_Del | DEL | 0.381 | 3 | Gain | - |
| SECISBP2 | - | - | - | - | 3 | Gain | - |
| SEMA4C | p.A258T | Missense | SNP | 0.500 | 2 | - | - |
| SEMA4D | - | - | - | - | 3 | Gain | - |
| SEMA6A | p.A859T | Missense | SNP | 0.553 | 2 | - | - |
| SEMA6B | p.R276Afs*11 | Frame_Shift_Del | DEL | 0.422 | 2 | - | - |
| SERPINA11 | p.R314M | Missense | SNP | 0.442 | 2 | - | - |
| SERPINB1 | p.M347V | Missense | SNP | 0.506 | 2 | - | - |
| SERTAD3 | p.T104A | Missense | SNP | 0.630 | 2 | - | - |
| SET | p.T169A | Missense | SNP | 0.258 | 3 | Gain | - |
| SETD3 | p.A478Qfs*2 | Frame_Shift_Del | DEL | 0.487 | 2 | - | - |
| SETD6 | p.F195S | Missense | SNP | 0.485 | 2 | - | - |
| SETX | - | - | - | - | 3 | Gain | - |
| SGK1 | p.K433R | Missense | SNP | 0.532 | 2 | - | - |
| SH2D3A | p.A389T | Missense | SNP | 0.605 | 2 | - | - |
| SH2D3C | - | - | - | - | 3 | Gain | - |
| SH3BP4 | p.S507G | Missense | SNP | 0.483 | 2 | - | - |
| SH3GL2 | p.R65S | Missense | SNP | 0.110 | 3 | Gain | - |
| SH3GLB2 | - | - | - | - | 3 | Gain | - |
| SHARPIN | - | - | - | - | 3 | Gain | - |
| SHB | - | - | - | - | 3 | Gain | - |
| SHC1 | p.P31Rfs*35 | Frame_Shift_Del | DEL | 0.494 | 2 | - | - |
| SHC3 | p.V475M | Missense | SNP | 0.243 | 3 | Gain | - |
| SHH | p.F377S | Missense | SNP | 0.500 | 2 | - | - |
| SHPK | p.I178T | Missense | SNP | 0.576 | 2 | - | - |
| SHQ1 | p.X70_splice | Splice_Site | SNP | 0.487 | 2 | - | - |
| SHROOM1 | p.A724V | Missense | SNP | 0.508 | 2 | - | - |
| SIAH3 | p.G96E | Missense | SNP | 0.456 | 2 | - | - |
| SIGMAR1 | - | - | - | - | 3 | Gain | - |
| SIPA1L2 | p.C1054Afs*194 | Frame_Shift_Del | DEL | 0.425 | 2 | - | - |
| SIRPA | p.V152Rfs*39 | Frame_Shift_Ins | INS | 0.275 | 2 | - | - |
| SIRT7 | p.M150T | Missense | SNP | 0.478 | 2 | - | - |
| SIT1 | - | - | - | - | 3 | Gain | - |
| SKIV2L | p.X826_splice | Splice_Site | SNP | 0.525 | 2 | - | - |
| SLA | - | - | - | - | 3 | Gain | - |
| SLC11A2 | p.F240Lfs*19 | Frame_Shift_Del | DEL | 0.545 | 2 | - | - |
| SLC12A5 | p.A13Qfs*161 | Frame_Shift_Del | DEL | 0.565 | 2 | - | - |
| SLC12A8 | p.X131_splice | Splice_Site | SNP | 0.436 | 2 | - | - |
| SLC14A2 | p.A838S | Missense | SNP | 0.559 | 2 | - | - |
| SLC16A1 | p.Y293C | Missense | SNP | 0.518 | 2 | - | - |
| SLC16A12 | p.F73Lfs*22 | Frame_Shift_Del | DEL | 0.566 | 2 | - | - |
| SLC17A2 | p.M121Cfs*7 | Frame_Shift_Del | DEL | 0.389 | 2 | - | - |
| SLC1A1 | - | - | - | - | 3 | Gain | - |
| SLC22A4 | p.F507Sfs*7 | Frame_Shift_Del | DEL | 0.434 | 2 | - | - |
| SLC22A8 | p.K419N | Missense | SNP | 0.425 | 2 | - | - |
| SLC23A2 | p.L494I | Missense | SNP | 0.457 | 2 | - | - |
| SLC24A1 | p.E109A | Missense | SNP | 0.496 | 2 | - | - |
| SLC24A2 | - | - | - | - | 3 | Gain | - |
| SLC24A5 | p.A238V | Missense | SNP | 0.277 | 2 | - | - |
| SLC25A25 | - | - | - | - | 3 | Gain | - |
| SLC25A26 | p.C185Y | Missense | SNP | 0.514 | 2 | - | - |
| SLC25A51 | - | - | - | - | 3 | Gain | - |
| SLC27A4 | - | - | - | - | 3 | Gain | - |
| SLC28A3 | - | - | - | - | 3 | Gain | - |
| SLC2A1 | p.D240G | Missense | SNP | 0.459 | 2 | - | - |
| SLC2A6 | - | - | - | - | 3 | Gain | - |
| SLC2A8 | - | - | - | - | 3 | Gain | - |
| SLC30A3 | p.H205Tfs*260 | Frame_Shift_Del | DEL | 0.319 | 2 | - | - |
| SLC30A8 | - | - | - | - | 3 | Gain | - |
| SLC31A1 | - | - | - | - | 3 | Gain | - |
| SLC31A2 | - | - | - | - | 3 | Gain | - |
| SLC34A3 | - | - | - | - | 3 | Gain | - |
| SLC35D2 | - | - | - | - | 3 | Gain | - |
| SLC38A4 | p.K144R | Missense | SNP | 0.556 | 2 | - | - |
| SLC39A4 | - | - | - | - | 3 | Gain | - |
| SLC44A1 | - | - | - | - | 3 | Gain | - |
| SLC45A4 | - | - | - | - | 3 | Gain | - |
| SLC46A2 | p.G49R | Missense | SNP | 0.589 | 3 | Gain | - |
| SLC4A5 | p.N292Tfs*4 p.D873G | Frame_Shift_Del Missense | DEL SNP | 0.419 0.443 | 2 | - | - |
| SLC52A2 | - | - | - | - | 3 | Gain | - |
| SLC6A6 | p.L413P | Missense | SNP | 0.543 | 2 | - | - |
| SLC9A5 | p.R270C | Missense | SNP | 0.538 | 2 | - | - |
| SLC9A8 | p.S65N | Missense | SNP | 0.279 | 2 | - | - |
| SLITRK2 | p.P690Hfs*20 | Frame_Shift_Del | DEL | 0.803 | ND | ND | - |
| SLTM | p.S364P | Missense | SNP | 0.316 | 2 | - | - |
| SLURP1 | - | - | - | - | 3 | Gain | - |
| SLURP2 | - | - | - | - | 3 | Gain | - |
| SLX4 | p.P469Hfs*4 | Frame_Shift_Del | DEL | 0.447 | 2 | - | - |
| SMARCA2 | - | - | - | - | 3 | Gain | - |
| SMC2 | p.T876I | Missense | SNP | 0.391 | 3 | Gain | - |
| SMC4 | p.K855Sfs*5 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
| SMC5 | p.I140V | Missense | SNP | 0.140 | 3 | Gain | - |
| SMCR8 | p.R805H | Missense | SNP | 0.519 | 2 | - | - |
| SMG1 | p.P2421L | Missense | SNP | 0.579 | 2 | - | - |
| SMG7 | p.M803* | Frame_Shift_Del | DEL | 0.449 | 2 | - | - |
| SMIM27 | - | - | - | - | 3 | Gain | - |
| SMO | p.P694Lfs*82 | Frame_Shift_Del | DEL | 0.440 | 2 | - | - |
| SMPD2 | p.D418Tfs*? | Frame_Shift_Del | DEL | 0.565 | 2 | - | - |
| SMPD4 | p.R736W | Missense | SNP | 0.548 | 2 | - | - |
| SMU1 | - | - | - | - | 3 | Gain | - |
| SNAI3 | p.N17Tfs*92 p.A254V | Frame_Shift_Del Missense | DEL SNP | 0.456 0.481 | 2 | - | - |
| SNAPC3 | - | - | - | - | 3 | Gain | - |
| SNAPC4 | - | - | - | - | 3 | Gain | - |
| SNTB1 | - | - | - | - | 3 | Gain | - |
| SNTG2 | p.Q16* | Nonsense | SNP | 0.520 | 2 | - | - |
| SNX30 | - | - | - | - | 3 | Gain | - |
| SNX32 | p.X125_splice | Splice_Site | SNP | 0.489 | 2 | - | - |
| SOHLH1 | - | - | - | - | 3 | Gain | - |
| SOX5 | p.Y677C | Missense | SNP | 0.488 | 2 | - | - |
| SP7 | p.F95L | Missense | SNP | 0.494 | 2 | - | - |
| SP8 | p.G464del | In_Frame_Del | DEL | 0.250 | 2 | - | - |
| SPAAR | - | - | - | - | 3 | Gain | - |
| SPACA9 | - | - | - | - | 3 | Gain | - |
| SPAG8 | - | - | - | - | 3 | Gain | - |
| SPATA31A1 | p.A982T | Missense | SNP | 0.574 | 3 | Gain | - |
| SPATA31A3 | - | - | - | - | 3 | Gain | - |
| SPATA31A5 | - | - | - | - | 3 | Gain | - |
| SPATA31A7 | - | - | - | - | 3 | Gain | - |
| SPATA31D1 | - | - | - | - | 3 | Gain | - |
| SPATA31D3 | - | - | - | - | 3 | Gain | - |
| SPATA31D4 | - | - | - | - | 3 | Gain | - |
| SPATA31E1 | - | - | - | - | 3 | Gain | - |
| SPATA6L | - | - | - | - | 3 | Gain | - |
| SPATC1 | - | - | - | - | 3 | Gain | - |
| SPECC1 | p.N303Tfs*63 | Frame_Shift_Del | DEL | 0.491 | 2 | - | - |
| SPEG | p.R2315Gfs*38 | Frame_Shift_Del | DEL | 0.504 | 2 | - | - |
| SPEN | p.P2055Lfs*9 p.V489I | Frame_Shift_Del Missense | DEL SNP | 0.456 0.607 | 2 | - | - |
| SPESP1 | p.A9V | Missense | SNP | 0.431 | 2 | - | - |
| SPG11 | p.C526R | Missense | SNP | 0.413 | 2 | - | - |
| SPG7 | p.T98A | Missense | SNP | 0.491 | 2 | - | - |
| SPHK1 | p.S449G | Missense | SNP | 0.406 | 2 | - | - |
| SPHKAP | p.S50N | Missense | SNP | 0.444 | 2 | - | - |
| SPIN1 | - | - | - | - | 3 | Gain | - |
| SPINK4 | - | - | - | - | 3 | Gain | - |
| SPIRE2 | p.P429L | Missense | SNP | 0.530 | 2 | - | - |
| SPOUT1 | - | - | - | - | 3 | Gain | - |
| SPRTN | p.G222Afs*7 | Frame_Shift_Del | DEL | 0.489 | 2 | - | - |
| SPTAN1 | - | - | - | - | 3 | Gain | - |
| SPTBN2 | p.R1056H p.M136T | Missense Missense | SNP SNP | 0.550 0.440 | 2 | - | - |
| SPTLC1 | - | - | - | - | 3 | Gain | - |
| SQLE | - | - | - | - | 3 | Gain | - |
| SRCAP | p.P1878Hfs*89 | Frame_Shift_Del | DEL | 0.453 | 2 | - | - |
| SRCIN1 | p.S434L | Missense | SNP | 0.380 | 2 | - | - |
| SREBF1 | p.S460Rfs*268 p.A173Gfs*190 | Frame_Shift_Del Frame_Shift_Ins | DEL INS | 0.394 0.313 | 2 | - | - |
| SRPK1 | p.I192N | Missense | SNP | 0.414 | 2 | - | - |
| SRRD | p.L73R | Missense | SNP | 0.565 | 2 | - | - |
| SRSF2 | p.P7Lfs*7 | Frame_Shift_Del | DEL | 0.492 | 2 | - | - |
| SSB | p.N193Mfs*13 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
| SSNA1 | - | - | - | - | 3 | Gain | - |
| SSTR5 | p.A199T | Missense | SNP | 0.079 | 2 | - | - |
| ST3GAL1 | - | - | - | - | 3 | Gain | - |
| ST6GALNAC4 | - | - | - | - | 3 | Gain | - |
| ST6GALNAC6 | - | - | - | - | 3 | Gain | - |
| ST8SIA6 | p.A252Pfs*53 | Frame_Shift_Del | DEL | 0.298 | 2 | - | - |
| STAB1 | p.P1458H | Missense | SNP | 0.568 | 2 | - | - |
| STAMBPL1 | p.K405Rfs*21 | Frame_Shift_Del | DEL | 0.937 | 2 | - | - |
| STARD13 | p.V32A | Missense | SNP | 0.411 | 2 | - | - |
| STIL | p.N75Ifs*10 | Frame_Shift_Del | DEL | 0.414 | 2 | - | - |
| STIM1 | p.K246N | Missense | SNP | 0.500 | 2 | - | - |
| STK11IP | p.P623T | Missense | SNP | 0.571 | 2 | - | - |
| STKLD1 | - | - | - | - | 3 | Gain | - |
| STOM | - | - | - | - | 3 | Gain | - |
| STOML2 | - | - | - | - | 3 | Gain | - |
| STPG3 | - | - | - | - | 3 | Gain | - |
| STRBP | - | - | - | - | 3 | Gain | - |
| STX17 | - | - | - | - | 3 | Gain | - |
| STXBP1 | - | - | - | - | 3 | Gain | - |
| SUN3 | p.K292Nfs*9 | Frame_Shift_Del | DEL | 0.561 | 2 | - | - |
| SUOX | p.L10H | Missense | SNP | 0.504 | 2 | - | - |
| SUPT6H | p.G439V | Missense | SNP | 0.405 | 2 | - | - |
| SURF1 | - | - | - | - | 3 | Gain | - |
| SURF2 | - | - | - | - | 3 | Gain | - |
| SURF4 | - | - | - | - | 3 | Gain | - |
| SURF6 | - | - | - | - | 3 | Gain | - |
| SUSD1 | - | - | - | - | 3 | Gain | - |
| SUSD3 | - | - | - | - | 3 | Gain | - |
| SVEP1 | p.L1338Wfs*45 p.K790Nfs*25 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.254 0.208 | 3 | Gain | - |
| SWI5 | - | - | - | - | 3 | Gain | - |
| SYDE1 | p.G228S | Missense | SNP | 0.548 | 2 | - | - |
| SYK | - | - | - | - | 3 | Gain | - |
| SYN2 | p.P34Q | Missense | SNP | 0.600 | 2 | - | - |
| SYNE2 | p.T6593Nfs*2 | Frame_Shift_Ins | INS | 0.297 | 2 | - | - |
| SYT7 | p.D321G | Missense | SNP | 0.361 | 2 | - | - |
| TAC4 | p.A84Hfs*101 | Frame_Shift_Del | DEL | 0.569 | 2 | - | - |
| TACC2 | p.P2149Qfs*2 | Frame_Shift_Del | DEL | 0.345 | 2 | - | - |
| TACR1 | p.L74M | Missense | SNP | 0.471 | 2 | - | - |
| TACR3 | p.D419G p.V403M p.A136T | Missense Missense Missense | SNP SNP SNP | 0.560 0.460 0.500 | 2 | - | - |
| TAF1B | p.R447Efs*5 | Frame_Shift_Del | DEL | 0.376 | 2 | - | - |
| TAF1L | - | - | - | - | 3 | Gain | - |
| TAF2 | - | - | - | - | 3 | Gain | - |
| TAL2 | - | - | - | - | 3 | Gain | - |
| TAS2R14 | p.M81Nfs*7 | Frame_Shift_Ins | INS | 0.328 | 2 | - | - |
| TATDN1 | - | - | - | - | 3 | Gain | - |
| TBC1D10B | p.I514T p.R511W | Missense Missense | SNP SNP | 0.450 0.535 | 2 | - | - |
| TBC1D13 | - | - | - | - | 3 | Gain | - |
| TBC1D2 | - | - | - | - | 3 | Gain | - |
| TBC1D3 | - | - | - | - | 1 | Loss | - |
| TBC1D31 | - | - | - | - | 3 | Gain | - |
| TBC1D3C | - | - | - | - | 1 | Loss | - |
| TBC1D3D | - | - | - | - | 1 | Loss | - |
| TBC1D3E | - | - | - | - | 1 | Loss | - |
| TBC1D3K | - | - | - | - | 1 | Loss | - |
| TBC1D3L | - | - | - | - | 1 | Loss | - |
| TBC1D4 | p.R244H | Missense | SNP | 0.450 | 2 | - | - |
| TBCA | - | - | - | - | 1 | Loss | - |
| TCEA3 | p.X127_splice | Splice_Site | SNP | 0.604 | 2 | - | - |
| TCERG1 | p.K957Rfs*17 | Frame_Shift_Del | DEL | 0.508 | 2 | - | - |
| TCF20 | p.L1943Cfs*118 | Frame_Shift_Del | DEL | 0.567 | 2 | - | - |
| TCL1A | p.E40K | Missense | SNP | 0.542 | 2 | - | - |
| TDRD6 | p.G1467W | Missense | SNP | 0.447 | 2 | - | - |
| TDRD7 | - | - | - | - | 3 | Gain | - |
| TEK | p.I980* | Frame_Shift_Del | DEL | 0.543 | 3 | Gain | - |
| TENM3 | p.V139Sfs*19 p.R2086C | Frame_Shift_Del Missense | DEL SNP | 0.525 0.472 | 2 | - | - |
| TENM4 | p.A195T | Missense | SNP | 0.561 | 2 | - | - |
| TEP1 | p.S1036G | Missense | SNP | 0.419 | 2 | - | - |
| TEPSIN | p.G452Afs*72 | Frame_Shift_Del | DEL | 0.495 | 2 | - | - |
| TESK1 | - | - | - | - | 3 | Gain | - |
| TEX10 | - | - | - | - | 3 | Gain | - |
| TEX14 | p.A467Sfs*11 | Frame_Shift_Ins | INS | 0.288 | 2 | - | - |
| TEX15 | p.A1007Lfs*12 | Frame_Shift_Del | DEL | 0.379 | 2 | - | - |
| TEX48 | - | - | - | - | 3 | Gain | - |
| TFAP2D | p.A119V | Missense | SNP | 0.503 | 2 | - | - |
| TFG | p.L49P | Missense | SNP | 0.526 | 2 | - | - |
| TFIP11 | p.R346W | Missense | SNP | 0.440 | 2 | - | - |
| TG | - | - | - | - | 3 | Gain | - |
| TGFBR1 | - | - | - | - | 3 | Gain | - |
| TGFBR2 | p.K153Afs*3 | Frame_Shift_Del | DEL | 0.832 | 2 | - | - |
| TGFBRAP1 | p.A457T | Missense | SNP | 0.484 | 2 | - | - |
| TGIF2LY | p.P110L | Missense | SNP | 0.994 | ND | ND | - |
| TGM6 | p.Q360Rfs*99 | Frame_Shift_Del | DEL | 0.542 | 2 | - | - |
| THEM6 | - | - | - | - | 3 | Gain | - |
| THOP1 | p.T261M | Missense | SNP | 0.527 | 2 | - | - |
| THSD7B | p.P645Lfs*35 p.T782I | Frame_Shift_Del Missense | DEL SNP | 0.339 0.382 | 2 | - | - |
| TIGD5 | - | - | - | - | 3 | Gain | - |
| TIMM17B | p.L122Pfs*56 | Frame_Shift_Ins | INS | 0.485 | ND | ND | - |
| TINAGL1 | p.X236_splice | Splice_Site | SNP | 0.444 | 2 | - | - |
| TJP2 | - | - | - | - | 3 | Gain | - |
| TLE1 | - | - | - | - | 3 | Gain | - |
| TLE4 | - | - | - | - | 3 | Gain | - |
| TLN1 | - | - | - | - | 3 | Gain | - |
| TLR4 | - | - | - | - | 3 | Gain | - |
| TLR5 | p.F201Lfs*20 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
| TM2D2 | p.P204S | Missense | SNP | 0.578 | 2 | - | - |
| TMBIM4 | p.Y221Ifs*4 | Frame_Shift_Del | DEL | 0.390 | 2 | - | - |
| TMC1 | - | - | - | - | 3 | Gain | - |
| TMCC1 | p.F630Lfs*67 | Frame_Shift_Del | DEL | 0.535 | 2 | - | - |
| TMEFF1 | - | - | - | - | 3 | Gain | - |
| TMEM117 | p.A31V | Missense | SNP | 0.465 | 2 | - | - |
| TMEM120A | p.M257T | Missense | SNP | 0.513 | 2 | - | - |
| TMEM132A | p.A434Pfs*5 | Frame_Shift_Del | DEL | 0.565 | 2 | - | - |
| TMEM132D | p.W964R | Missense | SNP | 0.558 | 2 | - | - |
| TMEM141 | - | - | - | - | 3 | Gain | - |
| TMEM143 | p.G261C | Missense | SNP | 0.420 | 2 | - | - |
| TMEM144 | p.M313V | Missense | SNP | 0.436 | 2 | - | - |
| TMEM185B | p.P341Lfs*4 | Frame_Shift_Del | DEL | 0.600 | 2 | - | - |
| TMEM201 | p.E288A | Missense | SNP | 0.465 | 2 | - | - |
| TMEM203 | p.L88R | Missense | SNP | 0.261 | 3 | Gain | - |
| TMEM210 | - | - | - | - | 3 | Gain | - |
| TMEM215 | - | - | - | - | 3 | Gain | - |
| TMEM245 | - | - | - | - | 3 | Gain | - |
| TMEM246 | - | - | - | - | 3 | Gain | - |
| TMEM249 | - | - | - | - | 3 | Gain | - |
| TMEM250 | - | - | - | - | 3 | Gain | - |
| TMEM252 | - | - | - | - | 3 | Gain | - |
| TMEM268 | - | - | - | - | 3 | Gain | - |
| TMEM38B | - | - | - | - | 3 | Gain | - |
| TMEM65 | - | - | - | - | 3 | Gain | - |
| TMEM71 | - | - | - | - | 3 | Gain | - |
| TMEM74B | p.A167T | Missense | SNP | 0.446 | 2 | - | - |
| TMEM8A | - | - | - | - | 1 | Loss | - |
| TMEM8B | - | - | - | - | 3 | Gain | - |
| TMEM97 | p.K176Nfs*188 | Frame_Shift_Del | DEL | 0.437 | 2 | - | - |
| TMOD1 | - | - | - | - | 3 | Gain | - |
| TMTC1 | p.S310Y | Missense | SNP | 0.455 | 2 | - | - |
| TNC | - | - | - | - | 3 | Gain | - |
| TNFAIP8 | p.L94M | Missense | SNP | 0.463 | 2 | - | - |
| TNFRSF11B | - | - | - | - | 3 | Gain | - |
| TNFSF10 | p.F275Lfs*5 | Frame_Shift_Del | DEL | 0.474 | 2 | - | - |
| TNFSF11 | p.L12M | Missense | SNP | 0.591 | 2 | - | - |
| TNFSF14 | p.P155L | Missense | SNP | 0.511 | 2 | - | - |
| TNFSF15 | - | - | - | - | 3 | Gain | - |
| TNFSF8 | - | - | - | - | 3 | Gain | - |
| TNIK | p.F1209Lfs*9 | Frame_Shift_Del | DEL | 0.481 | 2 | - | - |
| TNIP1 | p.K302del | In_Frame_Del | DEL | 0.463 | 2 | - | - |
| TNK2 | p.R8Gfs*23 | Frame_Shift_Del | DEL | 0.397 | 2 | - | - |
| TNPO3 | p.M861V | Missense | SNP | 0.333 | 2 | - | - |
| TOMM34 | p.S84I | Missense | SNP | 0.559 | 2 | - | - |
| TOMM5 | - | - | - | - | 3 | Gain | - |
| TONSL | - | - | - | - | 3 | Gain | - |
| TOP1MT | - | - | - | - | 3 | Gain | - |
| TOPAZ1 | p.A632Lfs*5 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
| TOPORS | - | - | - | - | 3 | Gain | - |
| TOR1A | - | - | - | - | 3 | Gain | - |
| TOR1B | - | - | - | - | 3 | Gain | - |
| TOR2A | - | - | - | - | 3 | Gain | - |
| TOR4A | - | - | - | - | 3 | Gain | - |
| TOX | p.A317V | Missense | SNP | 0.632 | 2 | - | - |
| TOX2 | p.Q173H | Missense | SNP | 0.535 | 2 | - | - |
| TP53 | p.G244C | Missense | SNP | 0.577 | 2 | - | - |
| TPD52L3 | - | - | - | - | 3 | Gain | - |
| TPM2 | - | - | - | - | 3 | Gain | - |
| TPRN | - | - | - | - | 3 | Gain | - |
| TPSD1 | p.I87V | Missense | SNP | 0.214 | 2 | - | - |
| TRAF1 | p.N379S | Missense | SNP | 0.246 | 3 | Gain | - |
| TRAF2 | p.P9Lfs*77 | Frame_Shift_Del | DEL | 0.242 | 3 | Gain | - |
| TRANK1 | p.P972Qfs*12 p.R2388C p.T405A p.R396S | Frame_Shift_Del Missense Missense Missense | DEL SNP SNP SNP | 0.500 0.523 0.561 0.508 | 2 | - | - |
| TRAPPC9 | - | - | - | - | 3 | Gain | - |
| TRERF1 | p.G490E | Missense | SNP | 0.575 | 2 | - | - |
| TRIB1 | - | - | - | - | 3 | Gain | - |
| TRIM14 | - | - | - | - | 3 | Gain | - |
| TRIM15 | p.P436S | Missense | SNP | 0.536 | 2 | - | - |
| TRIM26 | p.S436Kfs*8 | Frame_Shift_Ins | INS | 0.305 | 2 | - | - |
| TRIM32 | p.R540W | Missense | SNP | 0.422 | 3 | Gain | - |
| TRIM44 | p.R173Sfs*12 | Frame_Shift_Del | DEL | 0.426 | 2 | - | - |
| TRIM51 | p.M144Cfs*15 | Frame_Shift_Del | DEL | 0.456 | 2 | - | - |
| TRIO | p.G2805D | Missense | SNP | 0.386 | 2 | - | - |
| TRMO | - | - | - | - | 3 | Gain | - |
| TRMT10B | - | - | - | - | 3 | Gain | - |
| TRMT12 | - | - | - | - | 3 | Gain | - |
| TRPM2 | p.A177Pfs*6 p.A785Rfs*17 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.429 0.479 | 2 | - | - |
| TRPM3 | p.R1282C | Missense | SNP | 0.570 | 3 | Gain | - |
| TRPM6 | - | - | - | - | 3 | Gain | - |
| TRPS1 | - | - | - | - | 3 | Gain | - |
| TRPT1 | p.F210V | Missense | SNP | 0.503 | 2 | - | - |
| TRUB2 | - | - | - | - | 3 | Gain | - |
| TSC1 | - | - | - | - | 3 | Gain | - |
| TSNARE1 | p.S141I | Missense | SNP | 0.639 | 3 | Gain | - |
| TSSK6 | p.A258V | Missense | SNP | 0.478 | 2 | - | - |
| TSTA3 | - | - | - | - | 3 | Gain | - |
| TSTD2 | - | - | - | - | 3 | Gain | - |
| TTBK1 | p.G198E | Missense | SNP | 0.424 | 2 | - | - |
| TTBK2 | p.W603R | Missense | SNP | 0.526 | 2 | - | - |
| TTC13 | p.R119Efs*14 | Frame_Shift_Del | DEL | 0.431 | 2 | - | - |
| TTC16 | - | - | - | - | 3 | Gain | - |
| TTC39B | - | - | - | - | 3 | Gain | - |
| TTF1 | - | - | - | - | 3 | Gain | - |
| TTI1 | p.A681T | Missense | SNP | 0.438 | 2 | - | - |
| TTK | p.R854Gfs*39 | Frame_Shift_Del | DEL | 0.423 | 2 | - | - |
| TTLL11 | - | - | - | - | 3 | Gain | - |
| TTLL12 | p.P189L | Missense | SNP | 0.461 | 2 | - | - |
| TTLL3 | p.E371Rfs*44 | Frame_Shift_Del | DEL | 0.437 | 2 | - | - |
| TTN | p.K13542Nfs*56 p.R12033Kfs*7 p.K22872R p.R9840H p.L2730R p.K2452N | Frame_Shift_Del Frame_Shift_Ins Missense Missense Missense Missense | DEL INS SNP SNP SNP SNP | 0.667 0.292 0.441 0.426 0.527 0.596 | 2 | - | - |
| TUBA1A | p.G10Wfs*30 | Frame_Shift_Ins | INS | 0.337 | 2 | - | - |
| TUBA3D | p.Q176Pfs*24 | Frame_Shift_Ins | INS | 0.278 | 2 | - | - |
| TUBB4B | - | - | - | - | 3 | Gain | - |
| TULP4 | p.R403Afs*24 p.Q291R | Frame_Shift_Del Missense | DEL SNP | 0.419 0.490 | 2 | - | - |
| TUSC1 | p.W211C | Missense | SNP | 0.477 | 3 | Gain | - |
| TUT1 | p.L115I | Missense | SNP | 0.554 | 2 | - | - |
| TUT7 | - | - | - | - | 3 | Gain | - |
| TXN | - | - | - | - | 3 | Gain | - |
| TXNDC8 | - | - | - | - | 3 | Gain | - |
| TYRP1 | - | - | - | - | 3 | Gain | - |
| UAP1L1 | - | - | - | - | 3 | Gain | - |
| UBA6 | p.F299Lfs*8 | Frame_Shift_Del | DEL | 0.344 | 2 | - | - |
| UBA7 | p.S38L | Missense | SNP | 0.423 | 2 | - | - |
| UBAC1 | - | - | - | - | 3 | Gain | - |
| UBAP1 | - | - | - | - | 3 | Gain | - |
| UBAP2 | - | - | - | - | 3 | Gain | - |
| UBE2R2 | - | - | - | - | 3 | Gain | - |
| UBE3C | p.Q600R | Missense | SNP | 0.467 | 2 | - | - |
| UBE4B | p.A444Hfs*14 | Frame_Shift_Del | DEL | 0.344 | 2 | - | - |
| UBQLN1 | - | - | - | - | 3 | Gain | - |
| UBXN2B | p.R268C | Missense | SNP | 0.412 | 2 | - | - |
| UCK1 | - | - | - | - | 3 | Gain | - |
| UEVLD | p.A279S p.R151Q | Missense Missense | SNP SNP | 0.467 0.537 | 2 | - | - |
| UGCG | - | - | - | - | 3 | Gain | - |
| UGGT2 | p.L1246* | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
| UHRF2 | - | - | - | - | 3 | Gain | - |
| ULK2 | p.F266Lfs*11 | Frame_Shift_Del | DEL | 0.381 | 2 | - | - |
| UMODL1 | p.G384V | Missense | SNP | 0.862 | 2 | - | - |
| UNC13B | - | - | - | - | 3 | Gain | - |
| UNC79 | p.P39H | Missense | SNP | 0.402 | 2 | - | - |
| UPF3A | p.E267Rfs*13 | Frame_Shift_Del | DEL | 0.562 | 2 | - | - |
| URB1 | p.W619G | Missense | SNP | 0.386 | 2 | - | - |
| URM1 | - | - | - | - | 3 | Gain | - |
| USP14 | p.Y333Lfs*2 | Frame_Shift_Ins | INS | 0.314 | 2 | - | - |
| USP2 | p.G88C | Missense | SNP | 0.397 | 2 | - | - |
| USP20 | - | - | - | - | 3 | Gain | - |
| USP34 | p.S2127R | Missense | SNP | 0.381 | 2 | - | - |
| USP35 | p.T655Pfs*23 | Frame_Shift_Del | DEL | 0.459 | 2 | - | - |
| USP42 | p.K1236Rfs*92 | Frame_Shift_Del | DEL | 0.457 | 2 | - | - |
| UTP14A | p.T483A | Missense | SNP | 1.000 | ND | ND | - |
| UTP23 | - | - | - | - | 3 | Gain | - |
| VANGL2 | p.R169C | Missense | SNP | 0.455 | 2 | - | - |
| VAPB | p.R38* | Nonsense | SNP | 0.518 | 2 | - | - |
| VARS2 | p.A1053T | Missense | SNP | 0.507 | 2 | - | - |
| VAV2 | - | - | - | - | 3 | Gain | - |
| VCAN | p.P31L | Missense | SNP | 0.534 | 2 | - | - |
| VCP | - | - | - | - | 3 | Gain | - |
| VCPIP1 | p.T177I | Missense | SNP | 0.593 | 2 | - | - |
| VEZF1 | p.Q354dup | In_Frame_Ins | INS | 0.263 | 2 | - | - |
| VIL1 | p.F37L | Missense | SNP | 0.500 | 2 | - | - |
| VIPR2 | p.R54W | Missense | SNP | 0.615 | 2 | - | - |
| VLDLR | - | - | - | - | 3 | Gain | - |
| VPS13A | - | - | - | - | 3 | Gain | - |
| VPS13C | p.K158Nfs*33 | Frame_Shift_Del | DEL | 0.333 | 2 | - | - |
| VPS26A | p.D263G | Missense | SNP | 0.526 | 2 | - | - |
| VPS28 | - | - | - | - | 3 | Gain | - |
| VPS35 | p.A703Lfs*2 | Frame_Shift_Del | DEL | 0.510 | 2 | - | - |
| VSX2 | p.G223R | Missense | SNP | 0.523 | 2 | - | - |
| VWA7 | p.Q279R | Missense | SNP | 0.517 | 2 | - | - |
| VWC2 | p.A288D | Missense | SNP | 0.418 | 2 | - | - |
| WARS2 | p.R252H | Missense | SNP | 0.462 | 2 | - | - |
| WASHC5 | - | - | - | - | 3 | Gain | - |
| WDFY4 | p.F2760Lfs*78 | Frame_Shift_Del | DEL | 0.508 | 2 | - | - |
| WDR17 | p.L1171Q | Missense | SNP | 0.566 | 2 | - | - |
| WDR31 | - | - | - | - | 3 | Gain | - |
| WDR34 | - | - | - | - | 3 | Gain | - |
| WDR38 | p.K102T | Missense | SNP | 0.144 | 3 | Gain | - |
| WDR5 | - | - | - | - | 3 | Gain | - |
| WDR6 | p.E55A | Missense | SNP | 0.660 | 2 | - | - |
| WDR78 | p.K30Rfs*28 | Frame_Shift_Del | DEL | 0.058 | 2 | - | - |
| WDR87 | p.S240N | Missense | SNP | 0.477 | 2 | - | - |
| WDR97 | - | - | - | - | 3 | Gain | - |
| WDYHV1 | - | - | - | - | 3 | Gain | - |
| WHRN | p.P320S | Missense | SNP | 0.378 | 3 | Gain | - |
| WHSC1 | p.H793N | Missense | SNP | 0.463 | ND | ND | - |
| WHSC1L1 | p.F313Lfs*67 p.F106Lfs*38 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.438 0.450 | ND | ND | - |
| WISP1 | - | - | - | - | 3 | Gain | - |
| WIZ | p.A311V | Missense | SNP | 0.478 | 2 | - | - |
| WLS | p.I449V | Missense | SNP | 0.400 | 2 | - | - |
| WNK2 | - | - | - | - | 3 | Gain | - |
| WNT1 | p.G169Afs*30 | Frame_Shift_Del | DEL | 0.492 | 2 | - | - |
| WNT3 | p.R176H | Missense | SNP | 0.480 | 2 | - | - |
| WSB2 | - | - | - | - | 1 | Loss | - |
| WWP1 | p.V193A p.G491D p.X866_splice | Missense Missense Splice_Site | SNP SNP SNP | 0.605 0.375 0.320 | 2 | - | - |
| XDH | p.S289L | Missense | SNP | 0.419 | 2 | - | - |
| XPA | - | - | - | - | 3 | Gain | - |
| XRCC3 | p.G285D | Missense | SNP | 0.593 | 2 | - | - |
| XRN1 | p.T235Hfs*19 | Frame_Shift_Del | DEL | 0.415 | 2 | - | - |
| XYLT2 | p.G529Afs*78 | Frame_Shift_Del | DEL | 0.492 | 2 | - | - |
| ZBTB26 | - | - | - | - | 3 | Gain | - |
| ZBTB34 | - | - | - | - | 3 | Gain | - |
| ZBTB43 | - | - | - | - | 3 | Gain | - |
| ZBTB5 | - | - | - | - | 3 | Gain | - |
| ZBTB6 | - | - | - | - | 3 | Gain | - |
| ZBTB7C | p.D132Tfs*90 | Frame_Shift_Del | DEL | 0.583 | 2 | - | - |
| ZC3H18 | p.X427_splice | Splice_Site | SNP | 0.445 | 2 | - | - |
| ZC3H3 | - | - | - | - | 3 | Gain | - |
| ZC3H6 | p.S1077Vfs*4 | Frame_Shift_Del | DEL | 0.398 | 2 | - | - |
| ZCCHC24 | p.R194Afs*? | Frame_Shift_Del | DEL | 0.482 | 2 | - | - |
| ZCCHC7 | - | - | - | - | 3 | Gain | - |
| ZCCHC8 | p.Q523P | Missense | SNP | 0.494 | 2 | - | - |
| ZDHHC12 | - | - | - | - | 3 | Gain | - |
| ZDHHC21 | p.K165Sfs*15 | Frame_Shift_Del | DEL | 0.771 | 3 | Gain | - |
| ZDHHC7 | p.G83R | Missense | SNP | 0.507 | 2 | - | - |
| ZEB2 | p.A7V | Missense | SNP | 0.490 | 2 | - | - |
| ZER1 | - | - | - | - | 3 | Gain | - |
| ZFAND5 | - | - | - | - | 3 | Gain | - |
| ZFAT | - | - | - | - | 3 | Gain | - |
| ZFP37 | - | - | - | - | 3 | Gain | - |
| ZFP41 | - | - | - | - | 3 | Gain | - |
| ZFYVE19 | p.K92del | In_Frame_Del | DEL | 0.562 | 2 | - | - |
| ZFYVE26 | p.Q499R | Missense | SNP | 0.389 | 2 | - | - |
| ZHX1 | - | - | - | - | 3 | Gain | - |
| ZHX1-C8orf76 | - | - | - | - | 3 | Gain | - |
| ZHX2 | - | - | - | - | 3 | Gain | - |
| ZIC2 | p.H239dup | In_Frame_Ins | INS | 0.236 | 2 | - | - |
| ZMAT1 | p.K232N | Missense | SNP | 1.000 | ND | ND | - |
| ZMYND19 | - | - | - | - | 3 | Gain | - |
| ZNF106 | p.S482Pfs*33 | Frame_Shift_Del | DEL | 0.437 | 2 | - | - |
| ZNF114 | p.Y315Ifs*6 | Frame_Shift_Del | DEL | 0.510 | 2 | - | - |
| ZNF16 | - | - | - | - | 3 | Gain | - |
| ZNF160 | p.T90I | Missense | SNP | 0.514 | 2 | - | - |
| ZNF169 | - | - | - | - | 3 | Gain | - |
| ZNF189 | - | - | - | - | 3 | Gain | - |
| ZNF250 | - | - | - | - | 3 | Gain | - |
| ZNF251 | - | - | - | - | 3 | Gain | - |
| ZNF34 | - | - | - | - | 3 | Gain | - |
| ZNF367 | - | - | - | - | 3 | Gain | - |
| ZNF423 | p.R617W | Missense | SNP | 0.480 | 2 | - | - |
| ZNF449 | p.R30C | Missense | SNP | 1.000 | ND | ND | - |
| ZNF462 | - | - | - | - | 3 | Gain | - |
| ZNF469 | p.S2888G | Missense | SNP | 0.293 | 2 | - | - |
| ZNF470 | p.Y621C | Missense | SNP | 0.500 | 2 | - | - |
| ZNF483 | - | - | - | - | 3 | Gain | - |
| ZNF484 | - | - | - | - | 3 | Gain | - |
| ZNF486 | p.G125Afs*22 p.K180Nfs*3 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.461 0.416 | 2 | - | - |
| ZNF497 | p.G308R | Missense | SNP | 0.457 | 2 | - | - |
| ZNF510 | - | - | - | - | 3 | Gain | - |
| ZNF517 | - | - | - | - | 3 | Gain | - |
| ZNF555 | p.K534R | Missense | SNP | 0.517 | 2 | - | - |
| ZNF557 | p.K402Nfs*40 | Frame_Shift_Del | DEL | 0.375 | 2 | - | - |
| ZNF560 | p.R536Q | Missense | SNP | 0.392 | 2 | - | - |
| ZNF563 | p.W208Gfs*62 | Frame_Shift_Del | DEL | 0.431 | 2 | - | - |
| ZNF572 | - | - | - | - | 3 | Gain | - |
| ZNF581 | p.R143Q | Missense | SNP | 0.536 | 2 | - | - |
| ZNF585B | p.P224T | Missense | SNP | 0.420 | 2 | - | - |
| ZNF587 | p.N128Tfs*31 | Frame_Shift_Del | DEL | 0.382 | 2 | - | - |
| ZNF608 | p.A465Pfs*46 | Frame_Shift_Del | DEL | 0.479 | 2 | - | - |
| ZNF610 | p.L356P | Missense | SNP | 0.420 | 2 | - | - |
| ZNF618 | p.P723S | Missense | SNP | 0.480 | 3 | Gain | - |
| ZNF623 | - | - | - | - | 3 | Gain | - |
| ZNF658 | - | - | - | - | 3 | Gain | - |
| ZNF696 | - | - | - | - | 3 | Gain | - |
| ZNF7 | - | - | - | - | 3 | Gain | - |
| ZNF707 | - | - | - | - | 3 | Gain | - |
| ZNF710 | p.E83G | Missense | SNP | 0.548 | 2 | - | - |
| ZNF729 | p.C1245W | Missense | SNP | 0.434 | 2 | - | - |
| ZNF782 | - | - | - | - | 3 | Gain | - |
| ZNF79 | - | - | - | - | 3 | Gain | - |
| ZNF836 | p.G382R | Missense | SNP | 0.515 | 2 | - | - |
| ZNF839 | p.K242Nfs*3 | Frame_Shift_Del | DEL | 0.470 | 2 | - | - |
| ZNF883 | - | - | - | - | 3 | Gain | - |
| ZNF90 | p.G179D | Missense | SNP | 0.525 | 2 | - | - |
| ZNRF3 | p.V183* | Frame_Shift_Del | DEL | 0.442 | 2 | - | - |
| ZSCAN5A | p.K363E | Missense | SNP | 0.500 | 2 | - | - |
| ZYX | p.A3T | Missense | SNP | 0.435 | 2 | - | - |
| ZZZ3 | p.C24Vfs*5 | Frame_Shift_Del | DEL | 0.547 | ND | ND | - |