| Variant Type | Calling Status |
|---|---|
| Mutations | Called |
| Copy number | Called |
| Fusions | Called |
| Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
|---|---|---|---|---|---|---|---|
| A2M | - | - | - | - | 3 | Gain | - |
| A2ML1 | - | - | - | - | 3 | Gain | - |
| AAAS | - | - | - | - | 3 | Gain | - |
| AACS | - | - | - | - | 3 | Gain | - |
| AARS2 | p.T89A | Missense | SNP | 0.439 | 2 | - | - |
| ABCA9 | p.V1389M | Missense | SNP | 0.569 | 2 | - | - |
| ABCB9 | - | - | - | - | 3 | Gain | - |
| ABCC4 | p.G1174E | Missense | SNP | 0.626 | 2 | - | - |
| ABCC9 | - | - | - | - | 3 | Gain | - |
| ABCD2 | - | - | - | - | 3 | Gain | - |
| ABHD2 | p.D43A | Missense | SNP | 0.458 | 2 | - | - |
| AC002996.1 | - | - | - | - | 3 | Gain | - |
| AC005832.4 | - | - | - | - | 3 | Gain | - |
| AC005833.1 | - | - | - | - | 3 | Gain | - |
| AC006064.6 | - | - | - | - | 3 | Gain | - |
| AC006518.7 | - | - | - | - | 3 | Gain | - |
| AC008012.1 | - | - | - | - | 3 | Gain | - |
| AC010197.2 | - | - | - | - | 3 | Gain | - |
| AC011604.2 | - | - | - | - | 3 | Gain | - |
| AC012531.2 | - | - | - | - | 3 | Gain | - |
| AC022335.1 | - | - | - | - | 3 | Gain | - |
| AC023055.1 | - | - | - | - | 3 | Gain | - |
| AC023509.3 | - | - | - | - | 3 | Gain | - |
| AC025165.3 | - | - | - | - | 3 | Gain | - |
| AC025263.2 | - | - | - | - | 3 | Gain | - |
| AC026786.1 | - | - | - | - | 3 | Gain | - |
| AC034102.2 | - | - | - | - | 3 | Gain | - |
| AC048338.1 | - | - | - | - | 3 | Gain | - |
| AC068775.1 | - | - | - | - | 3 | Gain | - |
| AC069503.2 | - | - | - | - | 3 | Gain | - |
| AC073610.2 | - | - | - | - | 3 | Gain | - |
| AC073610.3 | - | - | - | - | 3 | Gain | - |
| AC073612.1 | - | - | - | - | 3 | Gain | - |
| AC073896.1 | - | - | - | - | 3 | Gain | - |
| AC078927.1 | - | - | - | - | 3 | Gain | - |
| AC092111.3 | - | - | - | - | 3 | Gain | - |
| AC097104.1 | - | - | - | - | 3 | Gain | - |
| AC117378.1 | - | - | - | - | 3 | Gain | - |
| AC137834.1 | - | - | - | - | 3 | Gain | - |
| ACACB | - | - | - | - | 3 | Gain | - |
| ACAD10 | - | - | - | - | 3 | Gain | - |
| ACADS | - | - | - | - | 3 | Gain | - |
| ACBD5 | p.D281G | Missense | SNP | 0.491 | 2 | - | - |
| ACMSD | p.A154V | Missense | SNP | 0.465 | 2 | - | - |
| ACOT11 | p.N583S | Missense | SNP | 0.538 | 2 | - | - |
| ACRBP | - | - | - | - | 3 | Gain | - |
| ACSF2 | p.P157T | Missense | SNP | 0.486 | 2 | - | - |
| ACSM4 | - | - | - | - | 3 | Gain | - |
| ACSS3 | - | - | - | - | 3 | Gain | - |
| ACTR6 | - | - | - | - | 3 | Gain | - |
| ACVR1B | - | - | - | - | 3 | Gain | - |
| ACVRL1 | - | - | - | - | 3 | Gain | - |
| ADAM22 | p.Q553* | Nonsense | SNP | 0.439 | 2 | - | - |
| ADAMTS16 | p.T702I | Missense | SNP | 0.438 | 2 | - | - |
| ADAMTS20 | - | - | - | - | 3 | Gain | - |
| ADAMTS6 | p.A526S | Missense | SNP | 0.554 | 2 | - | - |
| ADCK1 | p.T382M | Missense | SNP | 0.462 | 2 | - | - |
| ADCY3 | p.R478H | Missense | SNP | 0.537 | 2 | - | - |
| ADCY6 | - | - | - | - | 3 | Gain | - |
| ADCY9 | p.L323P | Missense | SNP | 0.547 | 2 | - | - |
| ADGRB3 | p.G145W p.R1279I | Missense Missense | SNP SNP | 0.494 0.535 | 2 | - | - |
| ADGRD1 | - | - | - | - | 3 | Gain | - |
| ADIPOR2 | - | - | - | - | 3 | Gain | - |
| ADRA1D | p.A69S | Missense | SNP | 0.643 | 2 | - | - |
| ADRB3 | p.R286W | Missense | SNP | 0.496 | 2 | - | - |
| AEBP2 | - | - | - | - | 3 | Gain | - |
| AFAP1L2 | p.R498C | Missense | SNP | 0.426 | 2 | - | - |
| AFG3L2 | p.A411V | Missense | SNP | 0.402 | 2 | - | - |
| AGAP2 | - | - | - | - | 3 | Gain | - |
| AGL | p.I1144M | Missense | SNP | 0.415 | 2 | - | - |
| AGPS | p.M321T | Missense | SNP | 0.478 | 2 | - | - |
| AHNAK | p.L1380P | Missense | SNP | 0.452 | 2 | - | - |
| AHR | p.F594S | Missense | SNP | 0.541 | 2 | - | - |
| AICDA | - | - | - | - | 3 | Gain | - |
| AJUBA | p.E497D | Missense | SNP | 0.553 | 2 | - | - |
| AKAP11 | p.N843K p.A1570T | Missense Missense | SNP SNP | 0.591 0.481 | 2 | - | - |
| AKAP3 | - | - | - | - | 3 | Gain | - |
| AKAP8L | p.X272_splice | Splice_Site | SNP | 0.524 | 2 | - | - |
| AKR1C1 | - | - | - | - | 1 | Loss | - |
| AKR1C2 | - | - | - | - | 1 | Loss | - |
| AKR1C3 | - | - | - | - | 1 | Loss | - |
| AKR1C4 | - | - | - | - | 1 | Loss | - |
| AKR1C8P | - | - | - | - | 1 | Loss | - |
| AL021546.1 | - | - | - | - | 3 | Gain | - |
| AL445238.1 | - | - | - | - | 3 | Gain | - |
| AL445989.1 | - | - | - | - | 3 | Gain | - |
| ALDH1L2 | - | - | - | - | 3 | Gain | - |
| ALDH2 | - | - | - | - | 3 | Gain | - |
| ALDH4A1 | p.R139C | Missense | SNP | 0.540 | 2 | - | - |
| ALG10 | p.P409H | Missense | SNP | 0.560 | 3 | Gain | - |
| ALG10B | - | - | - | - | 3 | Gain | - |
| ALK | p.E427G | Missense | SNP | 0.548 | 2 | - | - |
| ALKBH2 | - | - | - | - | 3 | Gain | - |
| ALOX5 | p.L317P | Missense | SNP | 0.582 | 2 | - | - |
| ALPK2 | p.A202V | Missense | SNP | 0.422 | 2 | - | - |
| ALX1 | p.R312* | Nonsense | SNP | 0.388 | 3 | Gain | - |
| ALYREF | p.Y146C | Missense | SNP | 0.487 | 2 | - | - |
| AMDHD1 | - | - | - | - | 3 | Gain | - |
| AMHR2 | - | - | - | - | 3 | Gain | - |
| AMIGO2 | - | - | - | - | 3 | Gain | - |
| AMN1 | - | - | - | - | 3 | Gain | - |
| ANAPC5 | - | - | - | - | 3 | Gain | - |
| ANAPC7 | - | - | - | - | 3 | Gain | - |
| ANGEL1 | p.P650L | Missense | SNP | 0.523 | 2 | - | - |
| ANHX | - | - | - | - | 3 | Gain | - |
| ANK3 | p.R290* | Nonsense | SNP | 0.421 | 2 | - | - |
| ANKLE2 | - | - | - | - | 3 | Gain | - |
| ANKRD13A | - | - | - | - | 3 | Gain | - |
| ANKRD33 | - | - | - | - | 3 | Gain | - |
| ANKRD35 | p.L206P | Missense | SNP | 0.397 | 2 | - | - |
| ANKRD50 | p.I1332M | Missense | SNP | 0.491 | 2 | - | - |
| ANKRD52 | - | - | - | - | 3 | Gain | - |
| ANKS1B | - | - | - | - | 3 | Gain | - |
| ANO2 | - | - | - | - | 3 | Gain | - |
| ANO4 | - | - | - | - | 3 | Gain | - |
| ANO6 | - | - | - | - | 3 | Gain | - |
| ANP32D | - | - | - | - | 3 | Gain | - |
| APAF1 | - | - | - | - | 3 | Gain | - |
| APCDD1L | p.Y220C | Missense | SNP | 0.525 | 2 | - | - |
| APOBEC1 | - | - | - | - | 3 | Gain | - |
| APOF | - | - | - | - | 3 | Gain | - |
| APOH | p.P53S | Missense | SNP | 0.530 | 2 | - | - |
| APOLD1 | - | - | - | - | 3 | Gain | - |
| APPL2 | - | - | - | - | 3 | Gain | - |
| AQP2 | - | - | - | - | 3 | Gain | - |
| AQP5 | - | - | - | - | 3 | Gain | - |
| AQP6 | - | - | - | - | 3 | Gain | - |
| ARF3 | - | - | - | - | 3 | Gain | - |
| ARHGAP25 | p.D388Y | Missense | SNP | 0.462 | 2 | - | - |
| ARHGAP31 | p.G1235* | Nonsense | SNP | 0.430 | 2 | - | - |
| ARHGAP9 | p.R342G | Missense | SNP | 0.733 | 3 | Gain | - |
| ARHGDIB | p.A79V | Missense | SNP | 0.606 | 3 | Gain | - |
| ARHGDIG | p.X25_splice | Splice_Site | SNP | 0.478 | 2 | - | - |
| ARHGEF10 | p.G360R | Missense | SNP | 0.560 | 2 | - | - |
| ARHGEF12 | p.P1078S | Missense | SNP | 0.520 | 2 | - | - |
| ARHGEF25 | - | - | - | - | 3 | Gain | - |
| ARID2 | - | - | - | - | 3 | Gain | - |
| ARL1 | - | - | - | - | 3 | Gain | - |
| ARL10 | p.P5A | Missense | SNP | 0.565 | 2 | - | - |
| ARL15 | p.F18S | Missense | SNP | 0.495 | 2 | - | - |
| ARL17A | - | - | - | - | 1 | Loss | - |
| ARL17B | - | - | - | - | 1 | Loss | - |
| ARL6IP4 | - | - | - | - | 3 | Gain | - |
| ARMCX3 | p.Y22C p.A183V | Missense Missense | SNP SNP | 0.319 0.370 | ND | ND | - |
| ARNTL2 | - | - | - | - | 3 | Gain | - |
| ARPC3 | - | - | - | - | 3 | Gain | - |
| ART4 | - | - | - | - | 3 | Gain | - |
| ARX | p.V64M | Missense | SNP | 0.412 | ND | ND | - |
| ASB8 | - | - | - | - | 3 | Gain | - |
| ASCL1 | - | - | - | - | 3 | Gain | - |
| ASCL4 | - | - | - | - | 3 | Gain | - |
| ASIC1 | - | - | - | - | 3 | Gain | - |
| ASTE1 | p.A467S | Missense | SNP | 0.462 | 2 | - | - |
| ATAD2 | p.G561R | Missense | SNP | 0.543 | 2 | - | - |
| ATAD3A | p.R256H | Missense | SNP | 0.580 | 2 | - | - |
| ATF1 | - | - | - | - | 3 | Gain | - |
| ATF7 | - | - | - | - | 3 | Gain | - |
| ATF7IP | - | - | - | - | 3 | Gain | - |
| ATG101 | - | - | - | - | 3 | Gain | - |
| ATG4B | p.G254C | Missense | SNP | 0.470 | 2 | - | - |
| ATG9B | p.R524H | Missense | SNP | 0.408 | 2 | - | - |
| ATL2 | p.L478R | Missense | SNP | 0.503 | 2 | - | - |
| ATN1 | - | - | - | - | 3 | Gain | - |
| ATP10A | p.G1328R | Missense | SNP | 0.495 | 2 | - | - |
| ATP10D | p.L839I | Missense | SNP | 0.570 | 2 | - | - |
| ATP11C | p.A468T | Missense | SNP | 0.359 | ND | ND | - |
| ATP1A1 | p.E1003K p.Y1023C | Missense Missense | SNP SNP | 0.331 0.437 | 2 | - | - |
| ATP23 | - | - | - | - | 3 | Gain | - |
| ATP2A2 | - | - | - | - | 3 | Gain | - |
| ATP2B1 | - | - | - | - | 3 | Gain | - |
| ATP5F1B | - | - | - | - | 3 | Gain | - |
| ATP5MC2 | - | - | - | - | 3 | Gain | - |
| ATP6V0A2 | - | - | - | - | 3 | Gain | - |
| ATP8B3 | p.L222P p.P218L | Missense Missense | SNP SNP | 0.401 0.591 | 2 | - | - |
| ATXN2 | - | - | - | - | 3 | Gain | - |
| ATXN7L3B | - | - | - | - | 3 | Gain | - |
| AURKA | p.H366R | Missense | SNP | 0.431 | 2 | - | - |
| AVIL | - | - | - | - | 3 | Gain | - |
| AVPR1A | - | - | - | - | 3 | Gain | - |
| AVPR1B | p.V285G | Missense | SNP | 0.532 | 2 | - | - |
| AXIN2 | p.V539A p.T536M | Missense Missense | SNP SNP | 0.445 0.440 | 2 | - | - |
| B3GAT1 | p.L115I | Missense | SNP | 0.558 | 2 | - | - |
| B3GNT4 | - | - | - | - | 3 | Gain | - |
| B4GALNT1 | - | - | - | - | 3 | Gain | - |
| B4GALNT3 | - | - | - | - | 3 | Gain | - |
| B4GALT4 | p.R301W | Missense | SNP | 0.481 | 2 | - | - |
| BACE1 | p.R296H | Missense | SNP | 0.500 | 2 | - | - |
| BAHD1 | p.A702V | Missense | SNP | 0.462 | 2 | - | - |
| BANP | p.A153T | Missense | SNP | 0.358 | 2 | - | - |
| BAZ2A | - | - | - | - | 3 | Gain | - |
| BBS10 | - | - | - | - | 3 | Gain | - |
| BCAR1 | p.R612W p.G267C | Missense Missense | SNP SNP | 0.550 0.447 | 2 | - | - |
| BCAS4 | p.P200T | Missense | SNP | 0.512 | 2 | - | - |
| BCAT1 | - | - | - | - | 3 | Gain | - |
| BCDIN3D | - | - | - | - | 3 | Gain | - |
| BCKDHB | p.R111* | Nonsense | SNP | 0.548 | 2 | - | - |
| BCL2L14 | - | - | - | - | 3 | Gain | - |
| BCL7A | - | - | - | - | 3 | Gain | - |
| BEND3 | p.D364G | Missense | SNP | 0.535 | 2 | - | - |
| BEST3 | - | - | - | - | 3 | Gain | - |
| BHLHE41 | - | - | - | - | 3 | Gain | - |
| BICC1 | p.A3T | Missense | SNP | 0.443 | 2 | - | - |
| BICD1 | - | - | - | - | 3 | Gain | - |
| BICDL1 | - | - | - | - | 3 | Gain | - |
| BIN2 | - | - | - | - | 3 | Gain | - |
| BIN3 | p.K113R | Missense | SNP | 0.537 | 2 | - | - |
| BLACE | p.I5S | Missense | SNP | 0.474 | ND | ND | - |
| BLOC1S1 | - | - | - | - | 3 | Gain | - |
| BLOC1S1-RDH5 | - | - | - | - | 3 | Gain | - |
| BMPR2 | - | - | - | - | 2 | - | BMPR2--FAM117B |
| BORCS5 | - | - | - | - | 3 | Gain | - |
| BRAF | p.V600E | Missense | SNP | 0.460 | 2 | - | - |
| BRAP | - | - | - | - | 3 | Gain | - |
| BRI3BP | - | - | - | - | 3 | Gain | - |
| BRINP3 | p.K541T | Missense | SNP | 0.474 | 3 | Gain | - |
| BTBD11 | - | - | - | - | 3 | Gain | - |
| BTG1 | - | - | - | - | 3 | Gain | - |
| BTNL3 | - | - | - | - | 1 | Loss | - |
| C10orf71 | p.A11V | Missense | SNP | 0.486 | 2 | - | - |
| C12orf10 | - | - | - | - | 3 | Gain | - |
| C12orf29 | - | - | - | - | 3 | Gain | - |
| C12orf4 | - | - | - | - | 3 | Gain | - |
| C12orf40 | - | - | - | - | 3 | Gain | - |
| C12orf42 | - | - | - | - | 3 | Gain | - |
| C12orf43 | - | - | - | - | 3 | Gain | - |
| C12orf45 | - | - | - | - | 3 | Gain | - |
| C12orf49 | - | - | - | - | 3 | Gain | - |
| C12orf50 | - | - | - | - | 3 | Gain | - |
| C12orf54 | - | - | - | - | 3 | Gain | - |
| C12orf56 | - | - | - | - | 3 | Gain | - |
| C12orf57 | - | - | - | - | 3 | Gain | - |
| C12orf60 | - | - | - | - | 3 | Gain | - |
| C12orf65 | - | - | - | - | 3 | Gain | - |
| C12orf66 | - | - | - | - | 3 | Gain | - |
| C12orf71 | - | - | - | - | 3 | Gain | - |
| C12orf73 | - | - | - | - | 3 | Gain | - |
| C12orf75 | - | - | - | - | 3 | Gain | - |
| C12orf76 | - | - | - | - | 3 | Gain | - |
| C14orf37 | p.A151V | Missense | SNP | 0.375 | ND | ND | - |
| C1GALT1C1 | p.H37P | Missense | SNP | 0.626 | ND | ND | - |
| C1orf204 | p.A149T | Missense | SNP | 0.479 | ND | ND | - |
| C1orf228 | p.A23T | Missense | SNP | 0.470 | ND | ND | - |
| C1QL4 | - | - | - | - | 3 | Gain | - |
| C1R | - | - | - | - | 3 | Gain | - |
| C1RL | - | - | - | - | 3 | Gain | - |
| C1S | - | - | - | - | 3 | Gain | - |
| C2CD4D | p.P184L | Missense | SNP | 0.419 | 2 | - | - |
| C2CD5 | - | - | - | - | 3 | Gain | - |
| C2orf16 | p.L1534H | Missense | SNP | 0.505 | 2 | - | - |
| C3AR1 | - | - | - | - | 3 | Gain | - |
| CA4 | p.A13V | Missense | SNP | 0.516 | 2 | - | - |
| CABP1 | - | - | - | - | 3 | Gain | - |
| CACNA1A | p.P2421V | Missense | DNP | 0.578 | 2 | - | - |
| CACNA1B | p.S761L | Missense | SNP | 0.509 | 2 | - | - |
| CACNA1C | p.A1668T | Missense | SNP | 0.314 | 3 | Gain | - |
| CACNA2D4 | - | - | - | - | 3 | Gain | - |
| CACNB3 | - | - | - | - | 3 | Gain | - |
| CALCOCO1 | - | - | - | - | 3 | Gain | - |
| CALCRL | p.R355* | Nonsense | SNP | 0.492 | 2 | - | - |
| CAMKK2 | - | - | - | - | 3 | Gain | - |
| CAND1 | - | - | - | - | 3 | Gain | - |
| CAPNS1 | p.F164S | Missense | SNP | 0.507 | 2 | - | - |
| CAPRIN2 | - | - | - | - | 3 | Gain | - |
| CAPS2 | - | - | - | - | 3 | Gain | - |
| CAPZA3 | - | - | - | - | 3 | Gain | - |
| CARD10 | p.A310P | Missense | SNP | 1.000 | 2 | - | - |
| CARNS1 | p.L454P p.S528N p.R809W | Missense Missense Missense | SNP SNP SNP | 0.500 0.495 0.490 | 2 | - | - |
| CASC1 | - | - | - | - | 3 | Gain | - |
| CATIP | p.F354L | Missense | SNP | 0.463 | 2 | - | - |
| CBLN4 | p.T134P | Missense | SNP | 0.542 | 2 | - | - |
| CBX5 | - | - | - | - | 3 | Gain | - |
| CCDC102B | p.D477Y | Missense | SNP | 0.731 | 2 | - | - |
| CCDC13 | p.L415P | Missense | SNP | 0.398 | 2 | - | - |
| CCDC184 | - | - | - | - | 3 | Gain | - |
| CCDC27 | p.R76W | Missense | SNP | 0.502 | 2 | - | - |
| CCDC38 | - | - | - | - | 3 | Gain | - |
| CCDC59 | - | - | - | - | 3 | Gain | - |
| CCDC60 | - | - | - | - | 3 | Gain | - |
| CCDC62 | - | - | - | - | 3 | Gain | - |
| CCDC63 | - | - | - | - | 3 | Gain | - |
| CCDC65 | p.X394_splice | Splice_Site | SNP | 0.628 | 3 | Gain | - |
| CCDC77 | - | - | - | - | 3 | Gain | - |
| CCDC91 | - | - | - | - | 3 | Gain | - |
| CCDC92 | - | - | - | - | 3 | Gain | - |
| CCDC94 | p.E170K | Missense | SNP | 0.563 | ND | ND | - |
| CCER1 | - | - | - | - | 3 | Gain | - |
| CCND2 | - | - | - | - | 3 | Gain | - |
| CCNJ | p.S267L | Missense | SNP | 0.395 | 2 | - | - |
| CCNT1 | - | - | - | - | 3 | Gain | - |
| CCNYL1 | p.N180D | Missense | SNP | 0.613 | 2 | - | - |
| CCSER1 | p.L531R | Missense | SNP | 0.456 | 2 | - | - |
| CCT2 | - | - | - | - | 3 | Gain | - |
| CD101 | p.D772A | Missense | SNP | 0.525 | 2 | - | - |
| CD163 | - | - | - | - | 3 | Gain | - |
| CD163L1 | - | - | - | - | 3 | Gain | - |
| CD22 | p.E203* | Nonsense | SNP | 0.509 | 2 | - | - |
| CD27 | - | - | - | - | 3 | Gain | - |
| CD4 | - | - | - | - | 3 | Gain | - |
| CD63 | - | - | - | - | 3 | Gain | - |
| CD69 | - | - | - | - | 3 | Gain | - |
| CD9 | - | - | - | - | 3 | Gain | - |
| CDC42BPG | p.V304M p.V205A | Missense Missense | SNP SNP | 0.548 0.453 | 2 | - | - |
| CDCA3 | - | - | - | - | 3 | Gain | - |
| CDH4 | p.W113C | Missense | SNP | 0.526 | 2 | - | - |
| CDH5 | p.R621Q | Missense | SNP | 0.465 | 2 | - | - |
| CDK17 | - | - | - | - | 3 | Gain | - |
| CDK2 | - | - | - | - | 3 | Gain | - |
| CDK2AP1 | - | - | - | - | 3 | Gain | - |
| CDK4 | p.R210Q | Missense | SNP | 0.310 | 3 | Gain | - |
| CDK5 | p.R200W | Missense | SNP | 0.435 | 2 | - | - |
| CDK5R2 | p.G357R | Missense | SNP | 0.511 | 2 | - | - |
| CDKN1B | - | - | - | - | 3 | Gain | - |
| CDRT1 | p.I76T | Missense | SNP | 0.420 | 2 | - | - |
| CECR6 | p.G159S | Missense | SNP | 1.000 | ND | ND | - |
| CELA1 | - | - | - | - | 3 | Gain | - |
| CELF3 | p.X76_splice | Splice_Site | SNP | 0.426 | 2 | - | - |
| CELSR1 | p.R2406* p.R291H | Nonsense Missense | SNP SNP | 1.000 1.000 | 2 | - | - |
| CEMIP | p.G118D | Missense | SNP | 0.480 | 2 | - | - |
| CEP170 | p.H1221R | Missense | SNP | 0.117 | 2 | - | - |
| CEP290 | p.X314_splice | Splice_Site | SNP | 0.206 | 3 | Gain | - |
| CEP295 | p.L482R | Missense | SNP | 0.534 | 2 | - | - |
| CEP63 | p.W43R | Missense | SNP | 0.497 | 2 | - | - |
| CEP83 | - | - | - | - | 3 | Gain | - |
| CERS5 | - | - | - | - | 3 | Gain | - |
| CES2 | p.G88D | Missense | SNP | 0.545 | 2 | - | - |
| CFAP47 | p.D385G | Missense | SNP | 0.256 | ND | ND | - |
| CFAP54 | - | - | - | - | 3 | Gain | - |
| CFAP65 | p.S48R | Missense | SNP | 0.509 | 2 | - | - |
| CFAP73 | - | - | - | - | 3 | Gain | - |
| CFH | p.G486E | Missense | DNP | 0.580 | 2 | - | - |
| CFHR1 | - | - | - | - | 1 | Loss | - |
| CFHR3 | - | - | - | - | 1 | Loss | - |
| CFHR4 | p.D424N | Missense | SNP | 0.448 | 1 | Loss | - |
| CGRRF1 | p.P238S | Missense | SNP | 0.532 | 2 | - | - |
| CHCHD2 | p.A37V | Missense | SNP | 0.600 | 2 | - | - |
| CHCHD7 | p.S43L | Missense | SNP | 0.493 | 2 | - | - |
| CHD4 | - | - | - | - | 3 | Gain | - |
| CHFR | - | - | - | - | 3 | Gain | - |
| CHPT1 | - | - | - | - | 3 | Gain | - |
| CHRNA4 | p.L619M | Missense | SNP | 0.471 | 2 | - | - |
| CHST11 | - | - | - | - | 3 | Gain | - |
| CHST2 | p.D441N | Missense | SNP | 0.573 | 2 | - | - |
| CHST7 | p.G415S | Missense | SNP | 0.342 | ND | ND | - |
| CIC | p.R863C | Missense | SNP | 0.540 | 2 | - | - |
| CIT | - | - | - | - | 3 | Gain | - |
| CKAP4 | - | - | - | - | 3 | Gain | - |
| CLASP2 | p.R1236W | Missense | SNP | 0.531 | 2 | - | - |
| CLASRP | p.D81N | Missense | SNP | 0.530 | 2 | - | - |
| CLEC12A | - | - | - | - | 3 | Gain | - |
| CLEC12B | - | - | - | - | 3 | Gain | - |
| CLEC16A | p.T848A | Missense | SNP | 0.446 | 2 | - | - |
| CLEC1A | - | - | - | - | 3 | Gain | - |
| CLEC1B | - | - | - | - | 3 | Gain | - |
| CLEC2A | - | - | - | - | 3 | Gain | - |
| CLEC2B | - | - | - | - | 3 | Gain | - |
| CLEC2D | - | - | - | - | 3 | Gain | - |
| CLEC4A | - | - | - | - | 3 | Gain | - |
| CLEC4C | - | - | - | - | 3 | Gain | - |
| CLEC4D | - | - | - | - | 3 | Gain | - |
| CLEC4E | - | - | - | - | 3 | Gain | - |
| CLEC6A | - | - | - | - | 3 | Gain | - |
| CLEC7A | - | - | - | - | 3 | Gain | - |
| CLEC9A | - | - | - | - | 3 | Gain | - |
| CLECL1 | - | - | - | - | 3 | Gain | - |
| CLHC1 | p.X272_splice | Splice_Site | SNP | 0.565 | 2 | - | - |
| CLIP1 | - | - | - | - | 3 | Gain | - |
| CLIP2 | p.M653V | Missense | SNP | 0.468 | 2 | - | - |
| CLLU1OS | - | - | - | - | 3 | Gain | - |
| CLSTN3 | - | - | - | - | 3 | Gain | - |
| CLTA | p.R213W | Missense | SNP | 0.551 | 2 | - | - |
| CMAS | - | - | - | - | 3 | Gain | - |
| CMKLR1 | - | - | - | - | 3 | Gain | - |
| CNN1 | p.D52G | Missense | SNP | 0.463 | 2 | - | - |
| CNOT2 | - | - | - | - | 3 | Gain | - |
| CNPY2 | - | - | - | - | 3 | Gain | - |
| CNTN1 | - | - | - | - | 3 | Gain | - |
| CNTN6 | p.G664S | Missense | SNP | 0.400 | 2 | - | - |
| COL15A1 | p.D639G | Missense | SNP | 0.441 | 2 | - | - |
| COL2A1 | - | - | - | - | 3 | Gain | - |
| COL5A1 | p.G607R | Missense | SNP | 0.497 | 2 | - | - |
| COLQ | p.G231* | Nonsense | SNP | 0.396 | 2 | - | - |
| COPS7A | - | - | - | - | 3 | Gain | - |
| COPZ1 | - | - | - | - | 3 | Gain | - |
| COQ10A | - | - | - | - | 3 | Gain | - |
| COQ5 | - | - | - | - | 3 | Gain | - |
| CORO1C | - | - | - | - | 3 | Gain | - |
| COX14 | - | - | - | - | 3 | Gain | - |
| COX6A1 | - | - | - | - | 3 | Gain | - |
| CP | p.P87S | Missense | SNP | 0.507 | 2 | - | - |
| CPM | - | - | - | - | 3 | Gain | - |
| CPNE8 | - | - | - | - | 3 | Gain | - |
| CPSF4L | p.R73Q | Missense | SNP | 0.443 | 2 | - | - |
| CPSF6 | - | - | - | - | 3 | Gain | - |
| CPXM1 | p.V356M | Missense | SNP | 0.481 | 2 | - | - |
| CRACR2A | - | - | - | - | 3 | Gain | - |
| CRADD | - | - | - | - | 3 | Gain | - |
| CRAT | p.K426E | Missense | SNP | 0.537 | 2 | - | - |
| CRB1 | p.K553T | Missense | SNP | 0.505 | 2 | - | - |
| CREB3L1 | p.S68R | Missense | SNP | 0.470 | 2 | - | - |
| CREBL2 | - | - | - | - | 3 | Gain | - |
| CRIPAK | p.H442N | Missense | SNP | 0.433 | ND | ND | - |
| CRTAC1 | p.H556R | Missense | SNP | 0.449 | 2 | - | - |
| CRY1 | - | - | - | - | 3 | Gain | - |
| CS | p.K382R | Missense | SNP | 0.682 | 3 | Gain | - |
| CSAD | - | - | - | - | 3 | Gain | - |
| CSMD1 | p.I1814F | Missense | SNP | 0.545 | 2 | - | - |
| CSNK2A1 | p.Y125C | Missense | SNP | 0.471 | 2 | - | - |
| CSRNP2 | - | - | - | - | 3 | Gain | - |
| CSRP2 | - | - | - | - | 3 | Gain | - |
| CSTB | p.Y97* | Nonsense | SNP | 0.493 | 2 | - | - |
| CTAGE1 | p.R556S | Missense | SNP | 0.518 | 2 | - | - |
| CTC-260F20.3 | p.A106V | Missense | SNP | 0.485 | ND | ND | - |
| CTDSP2 | - | - | - | - | 3 | Gain | - |
| CTPS1 | p.G558D | Missense | SNP | 0.504 | 2 | - | - |
| CUBN | p.N2576D | Missense | SNP | 0.601 | 2 | - | - |
| CUX2 | - | - | - | - | 3 | Gain | - |
| CYFIP1 | - | - | - | - | 1 | Loss | - |
| CYP26C1 | p.A164V | Missense | SNP | 0.571 | 2 | - | - |
| CYP27B1 | - | - | - | - | 3 | Gain | - |
| CYP2E1 | - | - | - | - | 3 | Gain | - |
| DACT3 | p.P495H | Missense | SNP | 0.439 | 2 | - | - |
| DAO | - | - | - | - | 3 | Gain | - |
| DAZAP2 | - | - | - | - | 3 | Gain | - |
| DBX2 | - | - | - | - | 3 | Gain | - |
| DCC | p.P234T | Missense | SNP | 0.385 | 2 | - | - |
| DCD | - | - | - | - | 3 | Gain | - |
| DCHS2 | p.A309D | Missense | SNP | 0.418 | 2 | - | - |
| DCN | - | - | - | - | 3 | Gain | - |
| DCP1B | - | - | - | - | 3 | Gain | - |
| DCST2 | p.M314L | Missense | SNP | 0.463 | 2 | - | - |
| DCTN2 | - | - | - | - | 3 | Gain | - |
| DDIT3 | - | - | - | - | 3 | Gain | - |
| DDN | p.Q29* | Nonsense | SNP | 0.342 | 3 | Gain | - |
| DDX11 | p.K209N | Missense | SNP | 0.197 | 3 | Gain | - |
| DDX23 | - | - | - | - | 3 | Gain | - |
| DDX47 | - | - | - | - | 3 | Gain | - |
| DDX51 | - | - | - | - | 3 | Gain | - |
| DDX54 | - | - | - | - | 3 | Gain | - |
| DDX55 | - | - | - | - | 3 | Gain | - |
| DENND5B | - | - | - | - | 3 | Gain | - |
| DENR | - | - | - | - | 3 | Gain | - |
| DEPDC1B | p.Y156C | Missense | SNP | 0.550 | 2 | - | - |
| DEPDC4 | - | - | - | - | 3 | Gain | - |
| DERA | - | - | - | - | 3 | Gain | - |
| DGKA | p.P454S | Missense | SNP | 0.333 | 3 | Gain | - |
| DHH | p.G304S | Missense | SNP | 0.634 | 3 | Gain | - |
| DHX37 | p.R1097G | Missense | SNP | 0.328 | 3 | Gain | - |
| DIABLO | - | - | - | - | 3 | Gain | - |
| DIP2B | - | - | - | - | 3 | Gain | - |
| DISP1 | p.S957L | Missense | SNP | 0.545 | 2 | - | - |
| DMRTA2 | p.R105C | Missense | SNP | 0.436 | 2 | - | - |
| DNAH1 | p.H3607L | Missense | SNP | 0.399 | 2 | - | - |
| DNAH10 | p.Q3307H | Missense | SNP | 0.378 | 3 | Gain | - |
| DNAH11 | p.L1636F | Missense | SNP | 0.461 | 2 | - | - |
| DNAH3 | p.F2236V | Missense | SNP | 0.526 | 2 | - | - |
| DNAJC14 | - | - | - | - | 3 | Gain | - |
| DNAJC22 | - | - | - | - | 3 | Gain | - |
| DNAJC6 | p.R806* | Nonsense | SNP | 0.554 | 2 | - | - |
| DNM1 | p.L452I | Missense | SNP | 0.455 | 2 | - | - |
| DNM1L | - | - | - | - | 3 | Gain | - |
| DNMT1 | p.V1284A | Missense | SNP | 0.482 | 2 | - | - |
| DOCK3 | p.E901D p.H1605R | Missense Missense | SNP SNP | 0.500 0.446 | 2 | - | - |
| DPCR1 | p.A1237T | Missense | SNP | 0.425 | ND | ND | - |
| DPM1 | p.P125S | Missense | SNP | 0.458 | 2 | - | - |
| DPPA3 | - | - | - | - | 3 | Gain | - |
| DPT | p.S47G | Missense | SNP | 0.465 | 2 | - | - |
| DPY19L2 | p.R147H | Missense | SNP | 0.342 | 3 | Gain | - |
| DRAM1 | - | - | - | - | 3 | Gain | - |
| DRD3 | p.P247L | Missense | SNP | 0.283 | 2 | - | - |
| DRD4 | p.A234V | Missense | SNP | 0.613 | 2 | - | - |
| DSE | p.K834E | Missense | SNP | 0.362 | 2 | - | - |
| DSPP | p.S293G | Missense | SNP | 0.594 | 2 | - | - |
| DSTYK | p.G30V | Missense | SNP | 0.480 | 2 | - | - |
| DTD1 | p.V133A | Missense | SNP | 0.526 | 2 | - | - |
| DTX1 | - | - | - | - | 3 | Gain | - |
| DTX3 | - | - | - | - | 3 | Gain | - |
| DUSP16 | - | - | - | - | 3 | Gain | - |
| DUSP6 | - | - | - | - | 3 | Gain | - |
| DYNLL1 | - | - | - | - | 3 | Gain | - |
| DYRK2 | - | - | - | - | 3 | Gain | - |
| DYRK4 | - | - | - | - | 3 | Gain | - |
| E2F7 | - | - | - | - | 3 | Gain | - |
| ECT2 | p.X749_splice | Splice_Site | SNP | 0.527 | 2 | - | - |
| EDRF1 | p.R953* | Nonsense | SNP | 0.569 | 2 | - | - |
| EEA1 | - | - | - | - | 3 | Gain | - |
| EEF1AKMT3 | - | - | - | - | 3 | Gain | - |
| EFCAB3 | - | - | - | - | 1 | Loss | - |
| EFNA1 | p.L197F | Missense | SNP | 0.544 | 2 | - | - |
| EGFL6 | p.A48V | Missense | SNP | 0.354 | ND | ND | - |
| EGR4 | p.P376L | Missense | SNP | 0.550 | 2 | - | - |
| EHBP1 | p.V29A | Missense | SNP | 0.440 | 2 | - | - |
| EID3 | - | - | - | - | 3 | Gain | - |
| EIF2B1 | - | - | - | - | 3 | Gain | - |
| EIF2S3B | - | - | - | - | 3 | Gain | - |
| EIF3G | p.S217R | Missense | SNP | 0.520 | 2 | - | - |
| EIF4B | - | - | - | - | 3 | Gain | - |
| EIF4G1 | p.R901C | Missense | SNP | 0.426 | 2 | - | - |
| ELK3 | - | - | - | - | 3 | Gain | - |
| EMG1 | - | - | - | - | 3 | Gain | - |
| EMP1 | - | - | - | - | 3 | Gain | - |
| ENDOU | - | - | - | - | 3 | Gain | - |
| ENO2 | - | - | - | - | 3 | Gain | - |
| EOMES | p.R602S | Missense | SNP | 0.473 | 2 | - | - |
| EP400 | - | - | - | - | 3 | Gain | - |
| EPB41 | p.T798S | Missense | SNP | 0.435 | 2 | - | - |
| EPB41L1 | p.A143E | Missense | SNP | 0.439 | 2 | - | - |
| EPHA5 | p.Q511H | Missense | SNP | 0.455 | 2 | - | - |
| EPHA7 | p.R811W | Missense | SNP | 0.589 | 2 | - | - |
| EPS8 | - | - | - | - | 3 | Gain | - |
| EPS8L1 | p.R290C | Missense | SNP | 0.470 | 2 | - | - |
| EPYC | - | - | - | - | 3 | Gain | - |
| ERBB3 | - | - | - | - | 3 | Gain | - |
| ERC1 | - | - | - | - | 3 | Gain | - |
| ERGIC2 | - | - | - | - | 3 | Gain | - |
| ERP27 | - | - | - | - | 3 | Gain | - |
| ERP29 | - | - | - | - | 3 | Gain | - |
| ESPL1 | - | - | - | - | 3 | Gain | - |
| ESYT1 | - | - | - | - | 3 | Gain | - |
| ETFBKMT | - | - | - | - | 3 | Gain | - |
| ETFRF1 | - | - | - | - | 3 | Gain | - |
| ETNK1 | - | - | - | - | 3 | Gain | - |
| ETV6 | - | - | - | - | 3 | Gain | - |
| EVC | p.A756T | Missense | SNP | 0.545 | 2 | - | - |
| EYS | p.R164Q | Missense | SNP | 0.455 | 2 | - | - |
| F10 | p.A474T | Missense | SNP | 0.504 | 2 | - | - |
| FAIM2 | - | - | - | - | 3 | Gain | - |
| FAM117B | - | - | - | - | 2 | - | BMPR2--FAM117B |
| FAM161A | p.E477K p.C426R | Missense Missense | SNP SNP | 0.585 0.456 | 2 | - | - |
| FAM179B | p.R722W | Missense | SNP | 0.500 | ND | ND | - |
| FAM184A | p.P1109S | Missense | SNP | 0.460 | 2 | - | - |
| FAM186A | - | - | - | - | 3 | Gain | - |
| FAM186B | - | - | - | - | 3 | Gain | - |
| FAM193A | p.E838* | Nonsense | SNP | 0.481 | 2 | - | - |
| FAM199X | p.D45N | Missense | SNP | 0.373 | ND | ND | - |
| FAM19A2 | - | - | - | - | 3 | Gain | - |
| FAM213A | p.V212I | Missense | SNP | 0.400 | ND | ND | - |
| FAM216A | - | - | - | - | 3 | Gain | - |
| FAM222A | - | - | - | - | 3 | Gain | - |
| FAM234B | - | - | - | - | 3 | Gain | - |
| FAM71C | - | - | - | - | 3 | Gain | - |
| FAM9B | p.G25* | Nonsense | SNP | 0.331 | ND | ND | - |
| FAR2 | - | - | - | - | 3 | Gain | - |
| FAT4 | p.A4625T | Missense | SNP | 0.506 | 2 | - | - |
| FBLL1 | p.A229V | Missense | SNP | 0.549 | 2 | - | - |
| FBN2 | p.A1032S | Missense | SNP | 0.477 | 2 | - | - |
| FBN3 | p.R2688* | Nonsense | SNP | 0.413 | 2 | - | - |
| FBRSL1 | - | - | - | - | 3 | Gain | - |
| FBXL14 | - | - | - | - | 3 | Gain | - |
| FBXL19 | p.P191T | Missense | SNP | 0.410 | 2 | - | - |
| FBXL8 | p.L354M | Missense | SNP | 0.548 | 2 | - | - |
| FBXO21 | - | - | - | - | 3 | Gain | - |
| FBXO40 | p.H565R | Missense | SNP | 0.521 | 2 | - | - |
| FBXW10 | p.P223T | Missense | SNP | 0.474 | 2 | - | - |
| FBXW8 | - | - | - | - | 3 | Gain | - |
| FDPS | p.D317G | Missense | SNP | 0.660 | 2 | - | - |
| FEV | p.A165P | Missense | SNP | 0.360 | 2 | - | - |
| FGD4 | - | - | - | - | 3 | Gain | - |
| FGD6 | p.E795A | Missense | SNP | 0.634 | 3 | Gain | - |
| FGF23 | - | - | - | - | 3 | Gain | - |
| FGF6 | - | - | - | - | 3 | Gain | - |
| FGFR1OP2 | - | - | - | - | 3 | Gain | - |
| FHDC1 | p.H593R | Missense | SNP | 0.470 | 2 | - | - |
| FIBCD1 | p.F449C | Missense | SNP | 0.485 | 2 | - | - |
| FICD | - | - | - | - | 3 | Gain | - |
| FIGNL2 | - | - | - | - | 3 | Gain | - |
| FKBP11 | - | - | - | - | 3 | Gain | - |
| FKBP4 | - | - | - | - | 3 | Gain | - |
| FKBP8 | p.S130L | Missense | SNP | 0.480 | 2 | - | - |
| FLNA | p.G1302D | Missense | SNP | 0.306 | ND | ND | - |
| FLRT2 | p.S173N | Missense | SNP | 0.477 | 3 | Gain | - |
| FMNL2 | p.F14I | Missense | SNP | 0.520 | 2 | - | - |
| FMNL3 | - | - | - | - | 3 | Gain | - |
| FOXC1 | p.F167I | Missense | SNP | 0.638 | 2 | - | - |
| FOXE3 | p.D110N | Missense | SNP | 0.500 | 2 | - | - |
| FOXJ2 | - | - | - | - | 3 | Gain | - |
| FOXK1 | p.V676A | Missense | SNP | 0.412 | 2 | - | - |
| FOXM1 | - | - | - | - | 3 | Gain | - |
| FOXN4 | - | - | - | - | 3 | Gain | - |
| FRG2B | - | - | - | - | 3 | Gain | - |
| FRMPD3 | p.R1386H | Missense | SNP | 0.679 | ND | ND | - |
| FRS2 | - | - | - | - | 3 | Gain | - |
| FSCB | - | - | - | - | 3 | Gain | - |
| FSIP2 | p.X343_splice | Splice_Site | SNP | 0.411 | 2 | - | - |
| FUT9 | p.M50T | Missense | SNP | 0.506 | 2 | - | - |
| FXR2 | - | - | - | - | 3 | Gain | - |
| FZD10 | - | - | - | - | 3 | Gain | - |
| FZD7 | p.Y179C | Missense | SNP | 0.532 | 2 | - | - |
| GABARAPL1 | - | - | - | - | 3 | Gain | - |
| GABPB2 | p.D304V | Missense | SNP | 0.469 | 2 | - | - |
| GAL3ST4 | p.A368V | Missense | SNP | 0.443 | 2 | - | - |
| GALNT14 | p.V540I | Missense | SNP | 0.467 | 2 | - | - |
| GALNT6 | - | - | - | - | 3 | Gain | - |
| GALNT8 | - | - | - | - | 3 | Gain | - |
| GALNT9 | - | - | - | - | 3 | Gain | - |
| GAPDH | - | - | - | - | 3 | Gain | - |
| GAR1 | p.G61D | Missense | SNP | 0.529 | 2 | - | - |
| GAS2L3 | - | - | - | - | 3 | Gain | - |
| GATAD2B | p.R310H | Missense | SNP | 0.481 | 2 | - | - |
| GATC | - | - | - | - | 3 | Gain | - |
| GCC1 | p.R558Q | Missense | SNP | 0.622 | 2 | - | - |
| GCGR | p.X91_splice | Splice_Site | SNP | 0.493 | 2 | - | - |
| GCN1 | - | - | - | - | 4 | Gain | - |
| GDF11 | - | - | - | - | 3 | Gain | - |
| GDF3 | - | - | - | - | 3 | Gain | - |
| GDF6 | p.R62W | Missense | SNP | 0.524 | 2 | - | - |
| GET4 | p.F203L | Missense | SNP | 0.483 | 2 | - | - |
| GFPT1 | p.P109T | Missense | SNP | 0.415 | 2 | - | - |
| GINS4 | p.K200M | Missense | SNP | 0.505 | 2 | - | - |
| GIT2 | - | - | - | - | 3 | Gain | - |
| GJA8 | - | - | - | - | 3 | Gain | - |
| GLI1 | - | - | - | - | 3 | Gain | - |
| GLIPR1 | - | - | - | - | 3 | Gain | - |
| GLIPR1L1 | - | - | - | - | 3 | Gain | - |
| GLIPR1L2 | - | - | - | - | 3 | Gain | - |
| GLRX3 | p.N134D | Missense | SNP | 0.525 | 2 | - | - |
| GLS2 | - | - | - | - | 3 | Gain | - |
| GLT1D1 | - | - | - | - | 3 | Gain | - |
| GLT8D2 | - | - | - | - | 3 | Gain | - |
| GLTP | - | - | - | - | 3 | Gain | - |
| GLTSCR1 | p.N1324I | Missense | SNP | 0.398 | ND | ND | - |
| GNB3 | - | - | - | - | 3 | Gain | - |
| GNPTAB | - | - | - | - | 3 | Gain | - |
| GNS | - | - | - | - | 3 | Gain | - |
| GOLGA3 | - | - | - | - | 3 | Gain | - |
| GOLT1B | - | - | - | - | 3 | Gain | - |
| GPD1 | - | - | - | - | 3 | Gain | - |
| GPM6A | p.A223T | Missense | SNP | 0.500 | 2 | - | - |
| GPN3 | - | - | - | - | 3 | Gain | - |
| GPR162 | - | - | - | - | 3 | Gain | - |
| GPR182 | - | - | - | - | 3 | Gain | - |
| GPR19 | - | - | - | - | 3 | Gain | - |
| GPR37L1 | p.Q306K | Missense | SNP | 0.377 | 2 | - | - |
| GPR39 | p.R375H | Missense | SNP | 0.536 | 2 | - | - |
| GPR84 | - | - | - | - | 3 | Gain | - |
| GPR89B | - | - | - | - | 3 | Gain | - |
| GPRC5A | - | - | - | - | 3 | Gain | - |
| GPRC5D | - | - | - | - | 3 | Gain | - |
| GRASP | - | - | - | - | 3 | Gain | - |
| GREB1L | p.A971V | Missense | SNP | 0.582 | 2 | - | - |
| GRIA3 | p.Q619* | Nonsense | SNP | 0.308 | ND | ND | - |
| GRIN2B | - | - | - | - | 3 | Gain | - |
| GRIP1 | - | - | - | - | 3 | Gain | - |
| GRM1 | p.S1163R | Missense | SNP | 0.476 | 2 | - | - |
| GSG1 | - | - | - | - | 3 | Gain | - |
| GSG2 | p.H746R | Missense | SNP | 0.577 | ND | ND | - |
| GTF2A1L | - | - | - | - | 1 | Loss | - |
| GTF2H3 | - | - | - | - | 3 | Gain | - |
| GTF3C1 | p.R1514Q | Missense | SNP | 0.458 | 2 | - | - |
| GTSF1 | p.A55V | Missense | SNP | 0.352 | 3 | Gain | - |
| GUCY1A2 | p.E679K | Missense | SNP | 0.446 | 2 | - | - |
| GUCY2C | - | - | - | - | 3 | Gain | - |
| GXYLT1 | - | - | - | - | 3 | Gain | - |
| GYS2 | - | - | - | - | 3 | Gain | - |
| H1FNT | - | - | - | - | 3 | Gain | - |
| H2AFJ | - | - | - | - | 3 | Gain | - |
| H3F3C | - | - | - | - | 3 | Gain | - |
| HAL | - | - | - | - | 3 | Gain | - |
| HBQ1 | p.L49M | Missense | SNP | 0.611 | 2 | - | - |
| HCAR1 | - | - | - | - | 3 | Gain | - |
| HCAR2 | - | - | - | - | 3 | Gain | - |
| HCAR3 | - | - | - | - | 3 | Gain | - |
| HCFC2 | - | - | - | - | 3 | Gain | - |
| HDAC7 | - | - | - | - | 3 | Gain | - |
| HEATR4 | p.Y344* | Nonsense | SNP | 0.500 | 2 | - | - |
| HEBP1 | - | - | - | - | 3 | Gain | - |
| HECTD4 | p.L3686P p.K1147N | Missense Missense | SNP SNP | 0.690 0.644 | 3 | Gain | - |
| HECW1 | p.A775S | Missense | SNP | 0.513 | 2 | - | - |
| HECW2 | p.R1119Q p.A422V | Missense Missense | SNP SNP | 0.540 0.575 | 2 | - | - |
| HELB | - | - | - | - | 3 | Gain | - |
| HIGD1C | - | - | - | - | 3 | Gain | - |
| HIP1R | - | - | - | - | 3 | Gain | - |
| HIST4H4 | - | - | - | - | 3 | Gain | - |
| HMCN2 | p.P3867H | Missense | SNP | 0.548 | 2 | - | - |
| HMGA2 | - | - | - | - | 3 | Gain | - |
| HNF1A | - | - | - | - | 3 | Gain | - |
| HNRNPA1 | - | - | - | - | 3 | Gain | - |
| HOXC10 | - | - | - | - | 3 | Gain | - |
| HOXC11 | - | - | - | - | 3 | Gain | - |
| HOXC12 | - | - | - | - | 3 | Gain | - |
| HOXC13 | - | - | - | - | 3 | Gain | - |
| HOXC4 | - | - | - | - | 3 | Gain | - |
| HOXC5 | - | - | - | - | 3 | Gain | - |
| HOXC6 | - | - | - | - | 3 | Gain | - |
| HOXC8 | - | - | - | - | 3 | Gain | - |
| HOXC9 | - | - | - | - | 3 | Gain | - |
| HPD | - | - | - | - | 3 | Gain | - |
| HR | p.S930P | Missense | SNP | 0.400 | 2 | - | - |
| HRK | - | - | - | - | 3 | Gain | - |
| HSD17B6 | - | - | - | - | 3 | Gain | - |
| HSH2D | p.A282T | Missense | SNP | 0.472 | 2 | - | - |
| HSP90B1 | - | - | - | - | 3 | Gain | - |
| HSPA1L | p.D595N | Missense | SNP | 0.466 | 2 | - | - |
| HSPB8 | - | - | - | - | 3 | Gain | - |
| HUNK | p.D494N | Missense | SNP | 0.500 | 2 | - | - |
| HVCN1 | - | - | - | - | 3 | Gain | - |
| IAPP | - | - | - | - | 3 | Gain | - |
| IARS | p.F339S | Missense | SNP | 0.444 | 2 | - | - |
| IBTK | p.I526V | Missense | SNP | 0.584 | 2 | - | - |
| ICAM4 | p.R26C | Missense | SNP | 0.490 | 2 | - | - |
| IDI1 | p.T141M | Missense | SNP | 0.380 | 2 | - | - |
| IFFO1 | - | - | - | - | 3 | Gain | - |
| IFIT1 | p.Q410H | Missense | SNP | 0.330 | 2 | - | - |
| IFNG | - | - | - | - | 3 | Gain | - |
| IFT74 | p.F191L | Missense | SNP | 0.520 | 2 | - | - |
| IFT81 | - | - | - | - | 3 | Gain | - |
| IGF1 | - | - | - | - | 3 | Gain | - |
| IGF2R | p.Y2115C | Missense | SNP | 0.384 | 2 | - | - |
| IGFBP6 | - | - | - | - | 3 | Gain | - |
| IGSF9B | p.A804T | Missense | SNP | 0.482 | 2 | - | - |
| IKBIP | - | - | - | - | 3 | Gain | - |
| IKZF4 | - | - | - | - | 3 | Gain | - |
| IL18RAP | p.T401M | Missense | SNP | 0.462 | 2 | - | - |
| IL22 | - | - | - | - | 3 | Gain | - |
| IL23A | - | - | - | - | 3 | Gain | - |
| IL26 | - | - | - | - | 3 | Gain | - |
| IL2RG | p.Y189H | Missense | SNP | 0.245 | ND | ND | - |
| IL31 | - | - | - | - | 3 | Gain | - |
| IMMT | p.A292V | Missense | SNP | 0.123 | 2 | - | - |
| ING4 | - | - | - | - | 3 | Gain | - |
| INHBA | p.K163E | Missense | SNP | 0.564 | 2 | - | - |
| INHBC | - | - | - | - | 3 | Gain | - |
| INHBE | - | - | - | - | 3 | Gain | - |
| INTS13 | - | - | - | - | 3 | Gain | - |
| IPO8 | - | - | - | - | 3 | Gain | - |
| IQCD | - | - | - | - | 3 | Gain | - |
| IQSEC3 | - | - | - | - | 3 | Gain | - |
| IRAK2 | p.S172L | Missense | SNP | 0.450 | 2 | - | - |
| IRAK3 | - | - | - | - | 3 | Gain | - |
| IRAK4 | - | - | - | - | 3 | Gain | - |
| IRF9 | p.R13W | Missense | SNP | 0.520 | 2 | - | - |
| IRX1 | p.G121D | Missense | SNP | 0.454 | 2 | - | - |
| ISCU | - | - | - | - | 3 | Gain | - |
| ITFG2 | - | - | - | - | 3 | Gain | - |
| ITGA4 | p.G31S | Missense | SNP | 0.458 | 2 | - | - |
| ITGA5 | - | - | - | - | 3 | Gain | - |
| ITGA7 | - | - | - | - | 3 | Gain | - |
| ITGA9 | p.L645M | Missense | SNP | 0.404 | 2 | - | - |
| ITGAD | p.D529G | Missense | SNP | 0.507 | 2 | - | - |
| ITGB7 | - | - | - | - | 3 | Gain | - |
| ITPR2 | - | - | - | - | 3 | Gain | - |
| IZUMO4 | p.T221P | Missense | SNP | 0.465 | 2 | - | - |
| JMY | p.Y443H | Missense | SNP | 0.549 | 2 | - | - |
| KALRN | p.R1137C | Missense | SNP | 0.539 | 2 | - | - |
| KANSL1L | p.E474K | Missense | SNP | 0.444 | 2 | - | - |
| KANSL2 | - | - | - | - | 3 | Gain | - |
| KAZN | p.T416M | Missense | SNP | 0.667 | 2 | - | - |
| KCNA1 | - | - | - | - | 3 | Gain | - |
| KCNA4 | p.C586F | Missense | SNP | 0.520 | 2 | - | - |
| KCNA5 | - | - | - | - | 3 | Gain | - |
| KCNA6 | - | - | - | - | 3 | Gain | - |
| KCNC2 | - | - | - | - | 3 | Gain | - |
| KCND1 | p.R420W | Missense | SNP | 0.300 | ND | ND | - |
| KCNG3 | p.A86V | Missense | SNP | 0.548 | 2 | - | - |
| KCNH3 | - | - | - | - | 3 | Gain | - |
| KCNJ8 | - | - | - | - | 3 | Gain | - |
| KCNK15 | p.G201D | Missense | SNP | 0.504 | 2 | - | - |
| KCNMA1 | p.D1107N | Missense | SNP | 0.458 | 2 | - | - |
| KCNMB4 | - | - | - | - | 3 | Gain | - |
| KCNS2 | p.V230M | Missense | SNP | 0.459 | 2 | - | - |
| KCTD10 | - | - | - | - | 3 | Gain | - |
| KDF1 | p.R146W | Missense | SNP | 0.466 | 2 | - | - |
| KDM2B | - | - | - | - | 3 | Gain | - |
| KDM5A | - | - | - | - | 3 | Gain | - |
| KERA | - | - | - | - | 3 | Gain | - |
| KIAA0319 | p.R791* | Nonsense | SNP | 0.463 | 2 | - | - |
| KIAA0368 | p.T911N | Missense | SNP | 0.431 | ND | ND | - |
| KIAA0556 | p.V970I | Missense | SNP | 0.514 | 2 | - | - |
| KIAA0895L | p.P164T | Missense | SNP | 0.435 | 2 | - | - |
| KIAA1551 | - | - | - | - | 3 | Gain | - |
| KIF13B | p.E944K | Missense | SNP | 0.491 | 2 | - | - |
| KIF21A | - | - | - | - | 3 | Gain | - |
| KIF3C | p.S216C | Missense | SNP | 0.373 | 2 | - | - |
| KIF5A | - | - | - | - | 3 | Gain | - |
| KIF5B | p.A461V | Missense | SNP | 0.495 | 2 | - | - |
| KITLG | - | - | - | - | 3 | Gain | - |
| KLC3 | p.E50D | Missense | SNP | 0.453 | 2 | - | - |
| KLF9 | p.V43A | Missense | SNP | 0.516 | 2 | - | - |
| KLHL34 | p.S584L p.T260M | Missense Missense | SNP SNP | 0.297 0.326 | ND | ND | - |
| KLHL42 | - | - | - | - | 3 | Gain | - |
| KLK14 | p.A60V | Missense | SNP | 0.493 | 2 | - | - |
| KLRB1 | - | - | - | - | 3 | Gain | - |
| KLRC1 | - | - | - | - | 3 | Gain | - |
| KLRC2 | - | - | - | - | 3 | Gain | - |
| KLRC3 | - | - | - | - | 3 | Gain | - |
| KLRC4 | - | - | - | - | 3 | Gain | - |
| KLRC4-KLRK1 | - | - | - | - | 3 | Gain | - |
| KLRD1 | - | - | - | - | 3 | Gain | - |
| KLRF1 | - | - | - | - | 3 | Gain | - |
| KLRF2 | - | - | - | - | 3 | Gain | - |
| KLRG1 | - | - | - | - | 3 | Gain | - |
| KLRK1 | - | - | - | - | 3 | Gain | - |
| KMT2B | p.D1349E | Missense | SNP | 0.471 | 2 | - | - |
| KMT2D | p.Q1302R | Missense | SNP | 0.388 | 3 | Gain | - |
| KMT5A | - | - | - | - | 3 | Gain | - |
| KNTC1 | - | - | - | - | 3 | Gain | - |
| KPNA5 | p.A103T | Missense | SNP | 0.567 | 2 | - | - |
| KRAS | - | - | - | - | 3 | Gain | - |
| KREMEN2 | p.T374M | Missense | SNP | 0.380 | 2 | - | - |
| KRR1 | - | - | - | - | 3 | Gain | - |
| KRT1 | - | - | - | - | 3 | Gain | - |
| KRT12 | p.M129I | Missense | SNP | 0.481 | 2 | - | - |
| KRT18 | - | - | - | - | 3 | Gain | - |
| KRT2 | - | - | - | - | 3 | Gain | - |
| KRT3 | - | - | - | - | 3 | Gain | - |
| KRT4 | - | - | - | - | 3 | Gain | - |
| KRT5 | - | - | - | - | 3 | Gain | - |
| KRT6A | - | - | - | - | 3 | Gain | - |
| KRT6B | - | - | - | - | 3 | Gain | - |
| KRT6C | - | - | - | - | 3 | Gain | - |
| KRT7 | - | - | - | - | 3 | Gain | - |
| KRT71 | - | - | - | - | 3 | Gain | - |
| KRT72 | - | - | - | - | 3 | Gain | - |
| KRT73 | - | - | - | - | 3 | Gain | - |
| KRT74 | - | - | - | - | 3 | Gain | - |
| KRT75 | - | - | - | - | 3 | Gain | - |
| KRT76 | - | - | - | - | 3 | Gain | - |
| KRT77 | - | - | - | - | 3 | Gain | - |
| KRT78 | - | - | - | - | 3 | Gain | - |
| KRT79 | - | - | - | - | 3 | Gain | - |
| KRT8 | - | - | - | - | 3 | Gain | - |
| KRT80 | - | - | - | - | 3 | Gain | - |
| KRT81 | - | - | - | - | 3 | Gain | - |
| KRT82 | - | - | - | - | 3 | Gain | - |
| KRT83 | - | - | - | - | 3 | Gain | - |
| KRT84 | - | - | - | - | 3 | Gain | - |
| KRT85 | - | - | - | - | 3 | Gain | - |
| KRT86 | - | - | - | - | 3 | Gain | - |
| KRTAP10-1 | - | - | - | - | 1 | Loss | - |
| KRTAP10-10 | - | - | - | - | 1 | Loss | - |
| KRTAP10-11 | - | - | - | - | 1 | Loss | - |
| KRTAP10-12 | - | - | - | - | 1 | Loss | - |
| KRTAP10-2 | - | - | - | - | 1 | Loss | - |
| KRTAP10-3 | - | - | - | - | 1 | Loss | - |
| KRTAP10-4 | - | - | - | - | 1 | Loss | - |
| KRTAP10-5 | - | - | - | - | 1 | Loss | - |
| KRTAP10-6 | - | - | - | - | 1 | Loss | - |
| KRTAP10-7 | - | - | - | - | 1 | Loss | - |
| KRTAP10-8 | - | - | - | - | 1 | Loss | - |
| KRTAP10-9 | - | - | - | - | 1 | Loss | - |
| KRTAP12-1 | - | - | - | - | 1 | Loss | - |
| KRTAP12-2 | - | - | - | - | 1 | Loss | - |
| KRTAP12-3 | - | - | - | - | 1 | Loss | - |
| KRTAP12-4 | - | - | - | - | 1 | Loss | - |
| KRTAP19-1 | p.G61C | Missense | SNP | 0.538 | 2 | - | - |
| KSR2 | - | - | - | - | 3 | Gain | - |
| KY | p.A446V | Missense | SNP | 0.609 | 2 | - | - |
| LACRT | - | - | - | - | 3 | Gain | - |
| LAG3 | - | - | - | - | 3 | Gain | - |
| LALBA | - | - | - | - | 3 | Gain | - |
| LAMB3 | p.C584* | Nonsense | SNP | 0.631 | 2 | - | - |
| LARP4 | - | - | - | - | 3 | Gain | - |
| LARS2 | p.E294K | Missense | SNP | 0.435 | 2 | - | - |
| LCE5A | p.S61I | Missense | SNP | 0.475 | 2 | - | - |
| LDHB | - | - | - | - | 3 | Gain | - |
| LDOC1 | p.P47L p.A18T | Missense Missense | SNP SNP | 0.273 0.287 | ND | ND | - |
| LEKR1 | p.L102H | Missense | SNP | 0.529 | 2 | - | - |
| LEMD3 | - | - | - | - | 3 | Gain | - |
| LETMD1 | - | - | - | - | 3 | Gain | - |
| LGR5 | - | - | - | - | 3 | Gain | - |
| LHPP | p.E177V | Missense | SNP | 0.504 | 2 | - | - |
| LHX5 | - | - | - | - | 3 | Gain | - |
| LIMA1 | - | - | - | - | 3 | Gain | - |
| LIN28A | p.R132Q | Missense | DNP | 0.410 | 2 | - | - |
| LIN7A | - | - | - | - | 3 | Gain | - |
| LLPH | - | - | - | - | 3 | Gain | - |
| LMBR1L | - | - | - | - | 3 | Gain | - |
| LMNTD1 | - | - | - | - | 3 | Gain | - |
| LMO3 | - | - | - | - | 3 | Gain | - |
| LMTK3 | p.A1076T | Missense | SNP | 0.588 | 2 | - | - |
| LOXHD1 | p.R615Q p.K82E | Missense Missense | SNP SNP | 0.625 0.488 | 2 | - | - |
| LOXL2 | p.R338C | Missense | SNP | 0.525 | 2 | - | - |
| LOXL4 | p.R427C | Missense | SNP | 0.495 | 2 | - | - |
| LPAR5 | - | - | - | - | 3 | Gain | - |
| LPCAT3 | - | - | - | - | 3 | Gain | - |
| LRCH4 | p.V663I | Missense | SNP | 0.449 | 2 | - | - |
| LRCOL1 | - | - | - | - | 3 | Gain | - |
| LRIG3 | - | - | - | - | 3 | Gain | - |
| LRMP | - | - | - | - | 3 | Gain | - |
| LRP1 | - | - | - | - | 3 | Gain | - |
| LRP2 | p.D297Y | Missense | SNP | 0.530 | 2 | - | - |
| LRP6 | - | - | - | - | 3 | Gain | - |
| LRRC10 | - | - | - | - | 3 | Gain | - |
| LRRC23 | - | - | - | - | 3 | Gain | - |
| LRRC37A2 | - | - | - | - | 1 | Loss | - |
| LRRC43 | - | - | - | - | 3 | Gain | - |
| LRRC75B | p.L215P | Missense | SNP | 1.000 | 2 | - | - |
| LRRIQ1 | - | - | - | - | 3 | Gain | - |
| LRRIQ3 | p.T128A | Missense | SNP | 0.447 | 2 | - | - |
| LRRK1 | p.V1320A | Missense | SNP | 0.561 | 2 | - | - |
| LRRK2 | - | - | - | - | 3 | Gain | - |
| LRTM2 | - | - | - | - | 3 | Gain | - |
| LTA4H | - | - | - | - | 3 | Gain | - |
| LTBR | - | - | - | - | 3 | Gain | - |
| LUM | - | - | - | - | 3 | Gain | - |
| LY6G5B | p.T27M | Missense | SNP | 0.551 | 2 | - | - |
| LYZ | - | - | - | - | 3 | Gain | - |
| LZIC | p.L138I | Missense | SNP | 0.352 | 2 | - | - |
| M6PR | - | - | - | - | 3 | Gain | - |
| MAD1L1 | p.L113I | Missense | SNP | 0.372 | 2 | - | - |
| MADCAM1 | p.R188H | Missense | SNP | 0.505 | 2 | - | - |
| MAFA | p.E251D | Missense | SNP | 0.440 | 2 | - | - |
| MAGEB5 | p.I140T | Missense | SNP | 0.276 | ND | ND | - |
| MAGEB6P1 | p.A365S | Missense | SNP | 0.257 | ND | ND | - |
| MAGEC1 | p.D91N p.S713R | Missense Missense | SNP SNP | 0.309 0.366 | ND | ND | - |
| MAGI2 | p.X180_splice | Splice_Site | SNP | 0.500 | 2 | - | - |
| MAGOHB | - | - | - | - | 3 | Gain | - |
| MANSC1 | - | - | - | - | 3 | Gain | - |
| MANSC4 | - | - | - | - | 3 | Gain | - |
| MAP1LC3B2 | - | - | - | - | 3 | Gain | - |
| MAP3K1 | p.V569I | Missense | SNP | 0.547 | 2 | - | - |
| MAP3K12 | p.G229C | Missense | SNP | 0.311 | 3 | Gain | - |
| MAPKAPK5 | - | - | - | - | 3 | Gain | - |
| MAPKBP1 | p.X725_splice | Splice_Site | SNP | 0.526 | 2 | - | - |
| MARCH9 | - | - | - | - | 3 | Gain | - |
| MARS | - | - | - | - | 3 | Gain | - |
| MAST2 | p.R1202P | Missense | SNP | 0.492 | 2 | - | - |
| MAST4 | p.T1769M | Missense | SNP | 0.516 | 2 | - | - |
| MBD1 | p.N554S | Missense | SNP | 0.510 | 2 | - | - |
| MBD6 | - | - | - | - | 3 | Gain | - |
| MCIDAS | p.A252V | Missense | SNP | 0.586 | 2 | - | - |
| MCOLN1 | p.R318C | Missense | SNP | 0.663 | 2 | - | - |
| MCRS1 | p.E183V | Missense | SNP | 0.640 | 3 | Gain | - |
| MDM1 | - | - | - | - | 3 | Gain | - |
| MDM2 | - | - | - | - | 3 | Gain | - |
| MED13 | p.X2098_splice | Splice_Site | SNP | 0.572 | 2 | - | - |
| MED13L | - | - | - | - | 3 | Gain | - |
| MED21 | - | - | - | - | 3 | Gain | - |
| MEGF8 | p.S1358P | Missense | SNP | 0.486 | 2 | - | - |
| MEI1 | p.A1074V | Missense | SNP | 1.000 | 2 | - | - |
| MELTF | p.A383V | Missense | SNP | 0.439 | 2 | - | - |
| METAP2 | - | - | - | - | 3 | Gain | - |
| METTL1 | - | - | - | - | 3 | Gain | - |
| METTL11B | p.V134I | Missense | SNP | 0.555 | 2 | - | - |
| METTL13 | p.S99G | Missense | SNP | 0.514 | 2 | - | - |
| METTL25 | p.R232S | Missense | SNP | 0.549 | 3 | Gain | - |
| METTL2A | - | - | - | - | 1 | Loss | - |
| METTL7A | - | - | - | - | 3 | Gain | - |
| METTL7B | - | - | - | - | 3 | Gain | - |
| MEX3B | p.P211S | Missense | SNP | 0.510 | 2 | - | - |
| MFAP5 | - | - | - | - | 3 | Gain | - |
| MFSD5 | - | - | - | - | 3 | Gain | - |
| MGAT4C | - | - | - | - | 3 | Gain | - |
| MGAT5 | p.C145R | Missense | SNP | 0.411 | 2 | - | - |
| MGP | - | - | - | - | 3 | Gain | - |
| MGST1 | - | - | - | - | 3 | Gain | - |
| MIP | - | - | - | - | 3 | Gain | - |
| MLEC | - | - | - | - | 3 | Gain | - |
| MLF2 | - | - | - | - | 3 | Gain | - |
| MLXIP | - | - | - | - | 3 | Gain | - |
| MLXIPL | p.E30Q | Missense | SNP | 0.536 | 2 | - | - |
| MMAB | - | - | - | - | 3 | Gain | - |
| MMP17 | - | - | - | - | 3 | Gain | - |
| MMP19 | - | - | - | - | 3 | Gain | - |
| MMP28 | p.Y283C p.A206V | Missense Missense | SNP SNP | 0.580 0.500 | 2 | - | - |
| MMS22L | p.H1047Y | Missense | SNP | 0.547 | 2 | - | - |
| MOB4 | p.A102T | Missense | SNP | 0.688 | 2 | - | - |
| MON2 | - | - | - | - | 3 | Gain | - |
| MORC4 | p.D88N | Missense | SNP | 0.439 | ND | ND | - |
| MORN3 | - | - | - | - | 3 | Gain | - |
| MPHOSPH8 | - | - | - | - | 1 | Loss | - |
| MPHOSPH9 | - | - | - | - | 3 | Gain | - |
| MPL | p.G343E | Missense | SNP | 0.418 | 2 | - | - |
| MPO | p.E282K | Missense | SNP | 0.474 | 2 | - | - |
| MPZL2 | p.H80R | Missense | SNP | 0.495 | 2 | - | - |
| MRC2 | - | - | - | - | 1 | Loss | - |
| MRM3 | p.A259T | Missense | SNP | 0.496 | 2 | - | - |
| MROH2A | p.Q997K | Missense | SNP | 0.565 | 2 | - | - |
| MRPL42 | - | - | - | - | 3 | Gain | - |
| MRPL51 | - | - | - | - | 3 | Gain | - |
| MRPS35 | - | - | - | - | 3 | Gain | - |
| MSI1 | - | - | - | - | 3 | Gain | - |
| MSRB3 | - | - | - | - | 3 | Gain | - |
| MTERF2 | - | - | - | - | 3 | Gain | - |
| MTF2 | p.G486* | Nonsense | SNP | 0.435 | 2 | - | - |
| MUC19 | - | - | - | - | 3 | Gain | - |
| MUC4 | p.T3606S | Missense | SNP | 0.238 | 2 | - | - |
| MUC5B | p.P1436L | Missense | SNP | 0.546 | 2 | - | - |
| MUCL1 | - | - | - | - | 3 | Gain | - |
| MVK | - | - | - | - | 3 | Gain | - |
| MXRA5 | p.Q486R | Missense | SNP | 0.338 | ND | ND | - |
| MYBPC1 | - | - | - | - | 3 | Gain | - |
| MYF5 | - | - | - | - | 3 | Gain | - |
| MYF6 | - | - | - | - | 3 | Gain | - |
| MYH8 | p.D1344N | Missense | SNP | 0.364 | 2 | - | - |
| MYL2 | - | - | - | - | 3 | Gain | - |
| MYL6 | - | - | - | - | 3 | Gain | - |
| MYL6B | - | - | - | - | 3 | Gain | - |
| MYO1A | - | - | - | - | 3 | Gain | - |
| MYO1G | p.Q420L | Missense | SNP | 0.509 | 2 | - | - |
| MYO1H | - | - | - | - | 3 | Gain | - |
| MYOZ1 | p.A157V | Missense | SNP | 0.559 | 2 | - | - |
| MYRFL | - | - | - | - | 3 | Gain | - |
| MZT2A | p.Q155H | Missense | SNP | 0.544 | 2 | - | - |
| NAA25 | - | - | - | - | 3 | Gain | - |
| NAB2 | - | - | - | - | 3 | Gain | - |
| NABP2 | - | - | - | - | 3 | Gain | - |
| NACA | - | - | - | - | 3 | Gain | - |
| NALCN | p.R297H | Missense | SNP | 0.543 | 2 | - | - |
| NANOG | - | - | - | - | 3 | Gain | - |
| NANOGNB | - | - | - | - | 3 | Gain | - |
| NAP1L1 | - | - | - | - | 3 | Gain | - |
| NAP1L6 | p.E104V | Missense | SNP | 0.298 | ND | ND | - |
| NAT8 | p.P50A | Missense | SNP | 0.514 | 2 | - | - |
| NAV3 | - | - | - | - | 3 | Gain | - |
| NBPF11 | - | - | - | - | 3 | Gain | - |
| NBPF14 | - | - | - | - | 3 | Gain | - |
| NBPF19 | - | - | - | - | 3 | Gain | - |
| NBPF9 | - | - | - | - | 3 | Gain | - |
| NCAPD2 | - | - | - | - | 3 | Gain | - |
| NCBP2 | p.R91C | Missense | SNP | 0.519 | 2 | - | - |
| NCKAP1L | - | - | - | - | 3 | Gain | - |
| NCKAP5L | - | - | - | - | 3 | Gain | - |
| NCOR1 | p.A317S | Missense | SNP | 0.370 | 2 | - | - |
| NCOR2 | - | - | - | - | 3 | Gain | - |
| NDUFA12 | - | - | - | - | 3 | Gain | - |
| NDUFA4L2 | - | - | - | - | 3 | Gain | - |
| NDUFA9 | - | - | - | - | 3 | Gain | - |
| NEB | p.R8481* | Nonsense | SNP | 0.583 | 2 | - | - |
| NECAP1 | - | - | - | - | 3 | Gain | - |
| NEDD1 | - | - | - | - | 3 | Gain | - |
| NEFM | p.R204H | Missense | SNP | 0.503 | 2 | - | - |
| NEIL2 | p.Q284* | Nonsense | SNP | 0.500 | 2 | - | - |
| NEK4 | p.L56I | Missense | SNP | 0.554 | 2 | - | - |
| NELL2 | - | - | - | - | 3 | Gain | - |
| NEMP1 | - | - | - | - | 3 | Gain | - |
| NEUROD4 | - | - | - | - | 3 | Gain | - |
| NFE2 | - | - | - | - | 3 | Gain | - |
| NFYB | - | - | - | - | 3 | Gain | - |
| NHS | p.R137W | Missense | SNP | 0.352 | ND | ND | - |
| NID1 | p.C414R | Missense | SNP | 0.470 | 2 | - | - |
| NINJ2 | p.A23T | Missense | SNP | 0.723 | 3 | Gain | - |
| NIPA1 | - | - | - | - | 1 | Loss | - |
| NIPA2 | - | - | - | - | 1 | Loss | - |
| NIPBL | p.R834* p.M2398T | Nonsense Missense | SNP SNP | 0.458 0.533 | 2 | - | - |
| NKIRAS2 | p.G45S | Missense | SNP | 0.519 | 2 | - | - |
| NKX2-3 | p.A294V | Missense | SNP | 0.346 | 2 | - | - |
| NKX2-6 | p.V137M | Missense | SNP | 0.439 | 2 | - | - |
| NLGN3 | p.M457V | Missense | SNP | 0.272 | ND | ND | - |
| NLRC5 | p.L28P p.A728T p.D1782V | Missense Missense Missense | SNP SNP SNP | 0.484 0.490 0.518 | 2 | - | - |
| NLRP4 | p.Q533K | Missense | SNP | 0.462 | 2 | - | - |
| NOC4L | - | - | - | - | 3 | Gain | - |
| NOG | p.R182C | Missense | SNP | 0.550 | 2 | - | - |
| NOL4 | p.L585M | Missense | SNP | 0.450 | 2 | - | - |
| NOP2 | p.R355* | Nonsense | SNP | 0.174 | 3 | Gain | - |
| NOP56 | p.P506H | Missense | SNP | 0.538 | 2 | - | - |
| NOS1 | - | - | - | - | 3 | Gain | - |
| NOTCH4 | p.T1083A | Missense | SNP | 0.481 | 2 | - | - |
| NPAP1 | p.A561T | Missense | SNP | 0.548 | 2 | - | - |
| NPAS4 | p.V167M | Missense | SNP | 0.486 | 2 | - | - |
| NPFF | - | - | - | - | 3 | Gain | - |
| NPW | p.E122* | Nonsense | SNP | 0.458 | 2 | - | - |
| NR1H3 | p.R160L | Missense | SNP | 0.556 | 2 | - | - |
| NR1H4 | - | - | - | - | 3 | Gain | - |
| NR2C1 | - | - | - | - | 3 | Gain | - |
| NR4A1 | - | - | - | - | 3 | Gain | - |
| NRIP2 | - | - | - | - | 3 | Gain | - |
| NSF | - | - | - | - | 1 | Loss | - |
| NSUN2 | p.P504H | Missense | SNP | 0.391 | 2 | - | - |
| NSUN6 | p.G328E | Missense | SNP | 0.505 | 2 | - | - |
| NT5DC3 | - | - | - | - | 3 | Gain | - |
| NTF3 | - | - | - | - | 3 | Gain | - |
| NTN4 | - | - | - | - | 3 | Gain | - |
| NTS | - | - | - | - | 3 | Gain | - |
| NUAK1 | - | - | - | - | 3 | Gain | - |
| NUDT11 | p.R40W | Missense | SNP | 0.348 | ND | ND | - |
| NUDT4 | - | - | - | - | 3 | Gain | - |
| NUDT4B | - | - | - | - | 3 | Gain | - |
| NUP107 | - | - | - | - | 3 | Gain | - |
| NUP210 | p.R1871H | Missense | SNP | 0.459 | 2 | - | - |
| NUP37 | - | - | - | - | 3 | Gain | - |
| NXPH4 | - | - | - | - | 3 | Gain | - |
| OAS1 | - | - | - | - | 3 | Gain | - |
| OAS2 | - | - | - | - | 3 | Gain | - |
| OAS3 | - | - | - | - | 3 | Gain | - |
| OASL | - | - | - | - | 3 | Gain | - |
| OBSCN | p.V5179M p.R6883H p.G8883D | Missense Missense Missense | SNP SNP SNP | 0.542 0.472 0.466 | 2 | - | - |
| OGDHL | p.A400T | Missense | SNP | 0.503 | 2 | - | - |
| OGFOD2 | - | - | - | - | 3 | Gain | - |
| OLR1 | - | - | - | - | 3 | Gain | - |
| OR10A7 | - | - | - | - | 3 | Gain | - |
| OR10AD1 | - | - | - | - | 3 | Gain | - |
| OR10P1 | - | - | - | - | 3 | Gain | - |
| OR1M1 | p.L82R | Missense | SNP | 0.541 | 2 | - | - |
| OR2AP1 | - | - | - | - | 3 | Gain | - |
| OR51F1 | p.Y261H | Missense | SNP | 0.600 | 2 | - | - |
| OR51I2 | p.R234C | Missense | SNP | 0.481 | 2 | - | - |
| OR52B4 | p.L84S | Missense | SNP | 0.412 | 2 | - | - |
| OR52E8 | p.H111R | Missense | SNP | 0.508 | 2 | - | - |
| OR5BS1P | - | - | - | - | 3 | Gain | - |
| OR5L1 | p.D89V | Missense | SNP | 0.479 | 2 | - | - |
| OR6C1 | - | - | - | - | 3 | Gain | - |
| OR6C2 | - | - | - | - | 3 | Gain | - |
| OR6C3 | - | - | - | - | 3 | Gain | - |
| OR6C4 | - | - | - | - | 3 | Gain | - |
| OR6C6 | - | - | - | - | 3 | Gain | - |
| OR6C65 | - | - | - | - | 3 | Gain | - |
| OR6C68 | - | - | - | - | 3 | Gain | - |
| OR6C70 | - | - | - | - | 3 | Gain | - |
| OR6C74 | - | - | - | - | 3 | Gain | - |
| OR6C75 | - | - | - | - | 3 | Gain | - |
| OR6C76 | - | - | - | - | 3 | Gain | - |
| OR7E47P | - | - | - | - | 3 | Gain | - |
| OR8S1 | - | - | - | - | 3 | Gain | - |
| OR9K2 | - | - | - | - | 3 | Gain | - |
| ORAI1 | - | - | - | - | 3 | Gain | - |
| ORMDL2 | - | - | - | - | 3 | Gain | - |
| OS9 | - | - | - | - | 3 | Gain | - |
| OSBPL8 | - | - | - | - | 3 | Gain | - |
| OSGIN1 | p.R80L | Missense | SNP | 0.448 | 2 | - | - |
| OTOGL | - | - | - | - | 3 | Gain | - |
| OTUD7A | p.R672Q | Missense | SNP | 0.509 | 2 | - | - |
| OVCH1 | - | - | - | - | 3 | Gain | - |
| OVOS2 | p.Y1125H | Missense | SNP | 0.686 | ND | ND | - |
| P2RX2 | - | - | - | - | 3 | Gain | - |
| P2RX4 | - | - | - | - | 3 | Gain | - |
| P2RX7 | - | - | - | - | 3 | Gain | - |
| P3H2 | p.S550T | Missense | SNP | 0.507 | 2 | - | - |
| P3H3 | - | - | - | - | 3 | Gain | - |
| PA2G4 | - | - | - | - | 3 | Gain | - |
| PAH | - | - | - | - | 3 | Gain | - |
| PAN2 | - | - | - | - | 3 | Gain | - |
| PANX2 | p.R427C | Missense | SNP | 1.000 | 2 | - | - |
| PARP11 | - | - | - | - | 3 | Gain | - |
| PARPBP | - | - | - | - | 3 | Gain | - |
| PAWR | - | - | - | - | 3 | Gain | - |
| PAX6 | p.L336I | Missense | SNP | 0.550 | 2 | - | - |
| PCBP2 | - | - | - | - | 3 | Gain | - |
| PCDH10 | p.R970H | Missense | SNP | 0.495 | 2 | - | - |
| PCDH17 | - | - | - | - | 3 | Gain | - |
| PCDH7 | p.R197C | Missense | SNP | 0.540 | 2 | - | - |
| PCDHA10 | p.S679L | Missense | SNP | 0.540 | 2 | - | - |
| PCDHA11 | p.V507M | Missense | SNP | 0.511 | 2 | - | - |
| PCDHA7 | p.V740E | Missense | SNP | 0.489 | 2 | - | - |
| PCDHGA11 | p.A697V | Missense | SNP | 0.513 | 2 | - | - |
| PCDHGA2 | p.R32H | Missense | SNP | 0.500 | 2 | - | - |
| PCED1B | - | - | - | - | 3 | Gain | - |
| PCTP | p.L44R | Missense | SNP | 0.547 | 2 | - | - |
| PDE1B | - | - | - | - | 3 | Gain | - |
| PDE3A | - | - | - | - | 3 | Gain | - |
| PDE4DIP | - | - | - | - | 3 | Gain | - |
| PDE6H | - | - | - | - | 3 | Gain | - |
| PDZD4 | p.L373M | Missense | SNP | 0.345 | ND | ND | - |
| PDZD8 | p.R772C | Missense | SNP | 0.450 | 2 | - | - |
| PDZRN4 | p.Q177P | Missense | SNP | 0.669 | 3 | Gain | - |
| PEBP1 | - | - | - | - | 3 | Gain | - |
| PEG3 | p.D560V p.D142N | Missense Missense | SNP SNP | 0.506 0.527 | 2 | - | - |
| PELP1 | p.L416R | Missense | SNP | 0.514 | 2 | - | - |
| PEX5 | - | - | - | - | 3 | Gain | - |
| PFDN5 | - | - | - | - | 3 | Gain | - |
| PFKM | - | - | - | - | 3 | Gain | - |
| PGAM5 | - | - | - | - | 3 | Gain | - |
| PHACTR2 | p.E68* | Nonsense | SNP | 0.400 | 2 | - | - |
| PHB2 | - | - | - | - | 3 | Gain | - |
| PHC1 | - | - | - | - | 3 | Gain | - |
| PHETA1 | - | - | - | - | 3 | Gain | - |
| PHF3 | p.R142Q | Missense | SNP | 0.434 | 2 | - | - |
| PHF8 | p.A946T p.R676W | Missense Missense | SNP SNP | 0.308 0.427 | ND | ND | - |
| PHIP | p.V732A | Missense | SNP | 0.373 | 2 | - | - |
| PHKA2 | p.X1113_splice | Splice_Site | SNP | 0.362 | ND | ND | - |
| PHLDA1 | - | - | - | - | 3 | Gain | - |
| PIANP | - | - | - | - | 3 | Gain | - |
| PIEZO1 | p.W1403* | Nonsense | SNP | 0.382 | 2 | - | - |
| PIGG | p.R465G | Missense | SNP | 0.432 | 2 | - | - |
| PIGH | p.C151R | Missense | SNP | 0.444 | 2 | - | - |
| PIGZ | p.T542I | Missense | SNP | 0.506 | 2 | - | - |
| PIK3C2G | - | - | - | - | 3 | Gain | - |
| PIP4K2C | - | - | - | - | 3 | Gain | - |
| PITPNM2 | - | - | - | - | 3 | Gain | - |
| PITX1 | p.L104P | Missense | SNP | 0.502 | 2 | - | - |
| PIWIL1 | - | - | - | - | 3 | Gain | - |
| PJA1 | p.T50M | Missense | SNP | 0.324 | ND | ND | - |
| PKHD1 | p.R3482H | Missense | SNP | 0.602 | 2 | - | - |
| PKP2 | - | - | - | - | 3 | Gain | - |
| PLA2G1B | - | - | - | - | 3 | Gain | - |
| PLA2G4A | - | - | - | - | 3 | Gain | - |
| PLBD1 | - | - | - | - | 3 | Gain | - |
| PLBD2 | - | - | - | - | 3 | Gain | - |
| PLCL2 | p.L172P | Missense | SNP | 0.506 | 2 | - | - |
| PLCZ1 | - | - | - | - | 3 | Gain | - |
| PLEKHA5 | - | - | - | - | 3 | Gain | - |
| PLEKHG6 | - | - | - | - | 3 | Gain | - |
| PLEKHG7 | - | - | - | - | 3 | Gain | - |
| PLXNB2 | p.V219M | Missense | SNP | 1.000 | 2 | - | - |
| PLXNB3 | p.A188V | Missense | SNP | 0.222 | ND | ND | - |
| PLXNC1 | - | - | - | - | 3 | Gain | - |
| PMCH | - | - | - | - | 3 | Gain | - |
| PMEL | - | - | - | - | 3 | Gain | - |
| PML | p.C754Y | Missense | SNP | 0.545 | 2 | - | - |
| PMP22 | p.L62M | Missense | SNP | 0.561 | 2 | - | - |
| PNPLA7 | p.L768I p.R60G | Missense Missense | SNP SNP | 0.257 0.578 | 2 | - | - |
| POC1A | p.V169A | Missense | SNP | 0.488 | 2 | - | - |
| POC1B | - | - | - | - | 3 | Gain | - |
| POC1B-GALNT4 | - | - | - | - | 3 | Gain | - |
| POLD2 | p.S479I | Missense | SNP | 0.625 | 2 | - | - |
| POLE | - | - | - | - | 3 | Gain | - |
| POLR1B | p.R1080W | Missense | SNP | 0.496 | 2 | - | - |
| POLR2A | p.X919_splice | Splice_Site | SNP | 0.460 | 2 | - | - |
| POLR3B | - | - | - | - | 3 | Gain | - |
| POP5 | - | - | - | - | 3 | Gain | - |
| POTEC | p.L57F | Missense | SNP | 0.458 | 2 | - | - |
| POTEE | p.T860S | Missense | SNP | 0.479 | ND | ND | - |
| POU5F1B | p.P14H | Missense | SNP | 0.525 | 2 | - | - |
| POU6F1 | - | - | - | - | 3 | Gain | - |
| PPARGC1B | p.A397V | Missense | SNP | 0.473 | 2 | - | - |
| PPFIA2 | - | - | - | - | 3 | Gain | - |
| PPFIA3 | p.R539Q | Missense | SNP | 0.562 | 2 | - | - |
| PPFIBP1 | - | - | - | - | 3 | Gain | - |
| PPHLN1 | - | - | - | - | 3 | Gain | - |
| PPM1H | - | - | - | - | 3 | Gain | - |
| PPP1CC | - | - | - | - | 3 | Gain | - |
| PPP1R12A | - | - | - | - | 3 | Gain | - |
| PPP1R1A | - | - | - | - | 3 | Gain | - |
| PPTC7 | - | - | - | - | 3 | Gain | - |
| PRB1 | - | - | - | - | 3 | Gain | - |
| PRB2 | - | - | - | - | 3 | Gain | - |
| PRB3 | - | - | - | - | 3 | Gain | - |
| PRB4 | - | - | - | - | 3 | Gain | - |
| PRDM10 | p.T1144I | Missense | SNP | 0.475 | 2 | - | - |
| PRDM13 | p.A369V | Missense | SNP | 0.441 | 2 | - | - |
| PRDM16 | p.A1063T | Missense | SNP | 0.562 | 2 | - | - |
| PRDM4 | - | - | - | - | 3 | Gain | - |
| PREX2 | p.A1036V | Missense | SNP | 0.490 | 2 | - | - |
| PRH1 | - | - | - | - | 3 | Gain | - |
| PRH1-PRR4 | - | - | - | - | 3 | Gain | - |
| PRH2 | - | - | - | - | 3 | Gain | - |
| PRICKLE1 | - | - | - | - | 3 | Gain | - |
| PRIM1 | - | - | - | - | 3 | Gain | - |
| PRKAB1 | - | - | - | - | 3 | Gain | - |
| PRKAG1 | - | - | - | - | 3 | Gain | - |
| PRKCH | p.A299V | Missense | SNP | 0.455 | 2 | - | - |
| PRKCQ | p.R146W | Missense | SNP | 0.424 | 2 | - | - |
| PRKDC | p.V323A | Missense | SNP | 0.455 | 2 | - | - |
| PRMT8 | - | - | - | - | 3 | Gain | - |
| PRPF40B | - | - | - | - | 3 | Gain | - |
| PRPF8 | p.X1874_splice p.E534* | Splice_Site Nonsense | SNP SNP | 0.377 0.426 | 2 | - | - |
| PRPH | - | - | - | - | 3 | Gain | - |
| PRR13 | - | - | - | - | 3 | Gain | - |
| PRR4 | - | - | - | - | 3 | Gain | - |
| PRRC2B | p.R262* | Nonsense | SNP | 0.502 | 2 | - | - |
| PSG1 | - | - | - | - | 1 | Loss | - |
| PSG11 | - | - | - | - | 1 | Loss | - |
| PSG2 | - | - | - | - | 1 | Loss | - |
| PSG3 | - | - | - | - | 1 | Loss | - |
| PSG4 | - | - | - | - | 1 | Loss | - |
| PSG5 | - | - | - | - | 1 | Loss | - |
| PSG6 | - | - | - | - | 1 | Loss | - |
| PSG7 | - | - | - | - | 1 | Loss | - |
| PSG8 | - | - | - | - | 1 | Loss | - |
| PSMA3 | p.D252G | Missense | SNP | 0.509 | 2 | - | - |
| PSMD9 | - | - | - | - | 3 | Gain | - |
| PTCHD4 | p.R744Q | Missense | SNP | 0.495 | 2 | - | - |
| PTEN | p.G251V | Missense | SNP | 0.569 | 2 | - | - |
| PTGDR | p.T12A | Missense | SNP | 0.439 | 2 | - | - |
| PTGES3 | - | - | - | - | 3 | Gain | - |
| PTH2 | p.P38R | Missense | SNP | 0.461 | 2 | - | - |
| PTHLH | - | - | - | - | 3 | Gain | - |
| PTMS | - | - | - | - | 3 | Gain | - |
| PTPN11 | - | - | - | - | 3 | Gain | - |
| PTPN6 | - | - | - | - | 3 | Gain | - |
| PTPRB | - | - | - | - | 3 | Gain | - |
| PTPRN | p.K934T | Missense | SNP | 0.543 | 2 | - | - |
| PTPRO | - | - | - | - | 3 | Gain | - |
| PTPRQ | - | - | - | - | 3 | Gain | - |
| PTPRR | - | - | - | - | 3 | Gain | - |
| PTPRU | p.P698H | Missense | SNP | 0.497 | 2 | - | - |
| PTTG1IP | p.E133G | Missense | SNP | 0.549 | 2 | - | - |
| PUS1 | - | - | - | - | 3 | Gain | - |
| PUS7L | - | - | - | - | 3 | Gain | - |
| PWP1 | - | - | - | - | 3 | Gain | - |
| PXMP2 | - | - | - | - | 3 | Gain | - |
| PXN | - | - | - | - | 3 | Gain | - |
| PYM1 | - | - | - | - | 3 | Gain | - |
| PYROXD1 | - | - | - | - | 3 | Gain | - |
| PZP | p.N1044K | Missense | SNP | 0.324 | 3 | Gain | - |
| R3HDM2 | - | - | - | - | 3 | Gain | - |
| RAB21 | - | - | - | - | 3 | Gain | - |
| RAB35 | - | - | - | - | 3 | Gain | - |
| RAB3IP | - | - | - | - | 3 | Gain | - |
| RAB4B | p.R129W | Missense | SNP | 0.121 | 2 | - | - |
| RAB5B | - | - | - | - | 3 | Gain | - |
| RACGAP1 | - | - | - | - | 3 | Gain | - |
| RAD51AP1 | - | - | - | - | 3 | Gain | - |
| RAD52 | - | - | - | - | 3 | Gain | - |
| RAD9B | - | - | - | - | 3 | Gain | - |
| RALGPS1 | p.R238* | Nonsense | SNP | 0.111 | 2 | - | - |
| RAN | - | - | - | - | 3 | Gain | - |
| RANBP2 | - | - | - | - | 2 | - | RANBP2--RNA5-8SN2 |
| RAP1B | - | - | - | - | 3 | Gain | - |
| RAP1GAP | p.A540T | Missense | SNP | 0.452 | 2 | - | - |
| RAPGEF3 | - | - | - | - | 3 | Gain | - |
| RARG | - | - | - | - | 3 | Gain | - |
| RASAL1 | - | - | - | - | 3 | Gain | - |
| RASSF3 | - | - | - | - | 3 | Gain | - |
| RASSF8 | - | - | - | - | 3 | Gain | - |
| RASSF9 | - | - | - | - | 3 | Gain | - |
| RBFOX3 | p.I309V | Missense | SNP | 0.547 | 2 | - | - |
| RBM19 | - | - | - | - | 3 | Gain | - |
| RBM5 | p.G447D | Missense | SNP | 0.391 | 2 | - | - |
| RBMS2 | - | - | - | - | 3 | Gain | - |
| RBP5 | - | - | - | - | 3 | Gain | - |
| RDH16 | - | - | - | - | 3 | Gain | - |
| RDH5 | - | - | - | - | 3 | Gain | - |
| RECQL | - | - | - | - | 3 | Gain | - |
| RELA | p.Y349C | Missense | SNP | 0.475 | 2 | - | - |
| RELN | p.T1919I p.K329* | Missense Nonsense | SNP SNP | 0.487 0.497 | 2 | - | - |
| REP15 | - | - | - | - | 3 | Gain | - |
| RERG | - | - | - | - | 3 | Gain | - |
| RERGL | - | - | - | - | 3 | Gain | - |
| RFC5 | - | - | - | - | 3 | Gain | - |
| RFLNA | - | - | - | - | 3 | Gain | - |
| RFTN1 | p.E230D | Missense | SNP | 0.466 | 2 | - | - |
| RFX4 | - | - | - | - | 3 | Gain | - |
| RFX7 | p.Q820R | Missense | SNP | 0.466 | 2 | - | - |
| RGPD1 | - | - | - | - | 0 | Del | - |
| RGPD2 | - | - | - | - | 0 | Del | - |
| RHEBL1 | - | - | - | - | 3 | Gain | - |
| RHNO1 | - | - | - | - | 3 | Gain | - |
| RHO | p.Y10C | Missense | SNP | 0.464 | 2 | - | - |
| RHOBTB1 | p.Y185S | Missense | SNP | 0.500 | 2 | - | - |
| RHOF | - | - | - | - | 3 | Gain | - |
| RIC8B | - | - | - | - | 3 | Gain | - |
| RILPL1 | - | - | - | - | 3 | Gain | - |
| RILPL2 | - | - | - | - | 3 | Gain | - |
| RIMBP2 | p.Y212S | Missense | SNP | 0.290 | 3 | Gain | - |
| RIMKLB | - | - | - | - | 3 | Gain | - |
| RIOK1 | p.G88* | Nonsense | SNP | 0.444 | 2 | - | - |
| RITA1 | - | - | - | - | 3 | Gain | - |
| RNA5-8SN2 | - | - | - | - | ND | ND | RANBP2--RNA5-8SN2 |
| RND1 | - | - | - | - | 3 | Gain | - |
| RNF10 | - | - | - | - | 3 | Gain | - |
| RNF123 | p.A477V | Missense | SNP | 0.543 | 2 | - | - |
| RNF17 | p.H686R | Missense | SNP | 0.348 | 2 | - | - |
| RNF175 | p.V114I | Missense | SNP | 0.576 | 2 | - | - |
| RNF181 | p.P93L | Missense | SNP | 0.480 | 2 | - | - |
| RNF34 | - | - | - | - | 3 | Gain | - |
| RNF41 | - | - | - | - | 3 | Gain | - |
| RNFT2 | - | - | - | - | 3 | Gain | - |
| RPAP2 | p.R504L | Missense | SNP | 0.463 | 2 | - | - |
| RPAP3 | - | - | - | - | 3 | Gain | - |
| RPH3A | - | - | - | - | 3 | Gain | - |
| RPL10 | p.R21C | Missense | SNP | 0.335 | ND | ND | - |
| RPL41 | - | - | - | - | 3 | Gain | - |
| RPL6 | - | - | - | - | 3 | Gain | - |
| RPLP0 | - | - | - | - | 3 | Gain | - |
| RPN2 | p.E351K | Missense | SNP | 0.506 | 2 | - | - |
| RPS26 | - | - | - | - | 3 | Gain | - |
| RRP7A | - | - | - | - | 3 | Gain | - |
| RSRC2 | - | - | - | - | 3 | Gain | - |
| RTFDC1 | p.V211M | Missense | SNP | 0.565 | ND | ND | - |
| RWDD3 | p.G253V | Missense | SNP | 0.558 | 2 | - | - |
| RXYLT1 | - | - | - | - | 3 | Gain | - |
| RYR2 | p.T4072M | Missense | SNP | 0.540 | 2 | - | - |
| RYR3 | p.R4043H | Missense | SNP | 0.504 | 2 | - | - |
| S1PR5 | p.R111W | Missense | SNP | 0.518 | 2 | - | - |
| SAFB | p.R718W | Missense | SNP | 0.347 | 2 | - | - |
| SAMD7 | p.N163K | Missense | SNP | 0.484 | 2 | - | - |
| SAP130 | p.C986L | Missense | DNP | 0.500 | 2 | - | - |
| SARNP | - | - | - | - | 3 | Gain | - |
| SART3 | - | - | - | - | 3 | Gain | - |
| SAT2 | - | - | - | - | 3 | Gain | - |
| SAV1 | p.R242* | Nonsense | SNP | 0.587 | 2 | - | - |
| SBK1 | p.T248A | Missense | SNP | 0.412 | 2 | - | - |
| SBK2 | p.R327H | Missense | SNP | 0.396 | 2 | - | - |
| SBNO1 | - | - | - | - | 3 | Gain | - |
| SCAF11 | - | - | - | - | 3 | Gain | - |
| SCAPER | p.R590* | Nonsense | SNP | 0.428 | 2 | - | - |
| SCARA5 | p.A304T | Missense | SNP | 0.474 | 2 | - | - |
| SCARB1 | - | - | - | - | 3 | Gain | - |
| SCN7A | p.S530M | Missense | DNP | 0.377 | 2 | - | - |
| SCN8A | - | - | - | - | 3 | Gain | - |
| SCNN1A | - | - | - | - | 3 | Gain | - |
| SCUBE3 | p.L477R | Missense | SNP | 0.432 | 2 | - | - |
| SCYL2 | - | - | - | - | 3 | Gain | - |
| SDR9C7 | - | - | - | - | 3 | Gain | - |
| SDS | - | - | - | - | 3 | Gain | - |
| SDSL | - | - | - | - | 3 | Gain | - |
| SELPLG | - | - | - | - | 3 | Gain | - |
| SEMA6A | p.Y472C | Missense | SNP | 0.500 | 2 | - | - |
| SEMA7A | p.R261H | Missense | SNP | 0.479 | 2 | - | - |
| SENP1 | - | - | - | - | 3 | Gain | - |
| SENP7 | p.K582N | Missense | SNP | 0.506 | 2 | - | - |
| SERHL2 | - | - | - | - | 3 | Gain | - |
| SETD1B | - | - | - | - | 3 | Gain | - |
| SFSWAP | - | - | - | - | 3 | Gain | - |
| SH2B3 | - | - | - | - | 3 | Gain | - |
| SH2D4A | p.R247C | Missense | SNP | 0.500 | 2 | - | - |
| SH3GL1 | p.A125V | Missense | SNP | 0.546 | 2 | - | - |
| SHANK1 | p.V1207M | Missense | SNP | 0.345 | 2 | - | - |
| SHBG | - | - | - | - | 3 | Gain | - |
| SHMT2 | - | - | - | - | 3 | Gain | - |
| SIM1 | p.X248_splice | Splice_Site | SNP | 0.507 | 2 | - | - |
| SINHCAF | - | - | - | - | 3 | Gain | - |
| SIPA1L2 | p.E1180K | Missense | SNP | 0.518 | 2 | - | - |
| SIRT1 | p.R384* | Nonsense | SNP | 0.524 | 2 | - | - |
| SIRT2 | p.R381G | Missense | SNP | 0.359 | 2 | - | - |
| SIRT4 | - | - | - | - | 3 | Gain | - |
| SLC11A2 | - | - | - | - | 3 | Gain | - |
| SLC15A4 | - | - | - | - | 3 | Gain | - |
| SLC15A5 | - | - | - | - | 3 | Gain | - |
| SLC16A7 | - | - | - | - | 3 | Gain | - |
| SLC17A8 | - | - | - | - | 3 | Gain | - |
| SLC22A11 | p.S332L | Missense | SNP | 0.682 | 2 | - | - |
| SLC22A18 | p.R89W | Missense | SNP | 0.667 | 2 | - | - |
| SLC25A3 | - | - | - | - | 3 | Gain | - |
| SLC26A10 | - | - | - | - | 3 | Gain | - |
| SLC26A4 | p.L117F | Missense | SNP | 0.465 | 2 | - | - |
| SLC27A6 | p.Q544* | Nonsense | SNP | 0.419 | 2 | - | - |
| SLC2A13 | - | - | - | - | 3 | Gain | - |
| SLC2A14 | - | - | - | - | 3 | Gain | - |
| SLC2A3 | - | - | - | - | 3 | Gain | - |
| SLC2A8 | p.R215C | Missense | SNP | 0.522 | 2 | - | - |
| SLC34A2 | p.C622R | Missense | SNP | 0.547 | 2 | - | - |
| SLC35A5 | p.A375T | Missense | SNP | 0.497 | 2 | - | - |
| SLC35E3 | - | - | - | - | 3 | Gain | - |
| SLC38A1 | - | - | - | - | 3 | Gain | - |
| SLC38A2 | - | - | - | - | 3 | Gain | - |
| SLC38A3 | p.L178P | Missense | SNP | 0.544 | 2 | - | - |
| SLC38A4 | - | - | - | - | 3 | Gain | - |
| SLC39A5 | - | - | - | - | 3 | Gain | - |
| SLC41A2 | - | - | - | - | 3 | Gain | - |
| SLC48A1 | - | - | - | - | 3 | Gain | - |
| SLC4A10 | p.R63* | Nonsense | SNP | 0.382 | 2 | - | - |
| SLC4A8 | - | - | - | - | 3 | Gain | - |
| SLC5A11 | p.A383V | Missense | SNP | 0.487 | 2 | - | - |
| SLC5A5 | p.F247L | Missense | SNP | 0.457 | 2 | - | - |
| SLC5A8 | - | - | - | - | 3 | Gain | - |
| SLC6A12 | - | - | - | - | 3 | Gain | - |
| SLC6A13 | - | - | - | - | 3 | Gain | - |
| SLC6A15 | - | - | - | - | 3 | Gain | - |
| SLC6A5 | p.S168Y | Missense | SNP | 0.515 | 2 | - | - |
| SLC6A6 | p.R278C | Missense | SNP | 0.473 | 2 | - | - |
| SLC7A4 | p.G187* p.R135H | Nonsense Missense | SNP SNP | 1.000 1.000 | 2 | - | - |
| SLC7A8 | p.W182* | Nonsense | SNP | 0.500 | 2 | - | - |
| SLC8A3 | p.K601R | Missense | SNP | 0.515 | 2 | - | - |
| SLC8B1 | - | - | - | - | 3 | Gain | - |
| SLCO1A2 | - | - | - | - | 3 | Gain | - |
| SLCO1B1 | - | - | - | - | 3 | Gain | - |
| SLCO1B3 | - | - | - | - | 3 | Gain | - |
| SLCO1B7 | - | - | - | - | 3 | Gain | - |
| SLCO1C1 | - | - | - | - | 3 | Gain | - |
| SLITRK5 | p.D161N | Missense | SNP | 0.524 | 2 | - | - |
| SMAD3 | p.H85R | Missense | SNP | 0.654 | 2 | - | - |
| SMAGP | - | - | - | - | 3 | Gain | - |
| SMARCA4 | p.R842W | Missense | SNP | 0.540 | 2 | - | - |
| SMARCC2 | - | - | - | - | 3 | Gain | - |
| SMARCD1 | - | - | - | - | 3 | Gain | - |
| SMC3 | p.R186W | Missense | SNP | 0.524 | 2 | - | - |
| SMCO2 | p.P331S | Missense | SNP | 0.663 | 3 | Gain | - |
| SMCO3 | - | - | - | - | 3 | Gain | - |
| SMUG1 | - | - | - | - | 3 | Gain | - |
| SNRNP35 | - | - | - | - | 3 | Gain | - |
| SNRPF | - | - | - | - | 3 | Gain | - |
| SNTB1 | p.R241W | Missense | SNP | 0.541 | 2 | - | - |
| SOAT2 | - | - | - | - | 3 | Gain | - |
| SOCS2 | - | - | - | - | 3 | Gain | - |
| SOCS5 | p.R263M | Missense | SNP | 0.409 | 2 | - | - |
| SOGA3 | p.R206M | Missense | SNP | 0.515 | 2 | - | - |
| SON | p.V1558I | Missense | SNP | 0.497 | 2 | - | - |
| SOX15 | - | - | - | - | 3 | Gain | - |
| SOX21 | p.A218T | Missense | SNP | 0.515 | 2 | - | - |
| SOX3 | p.I26M | Missense | SNP | 0.336 | ND | ND | - |
| SOX5 | - | - | - | - | 3 | Gain | - |
| SP1 | - | - | - | - | 3 | Gain | - |
| SP140 | p.G549W | Missense | SNP | 0.457 | 2 | - | - |
| SP7 | - | - | - | - | 3 | Gain | - |
| SPATS2 | - | - | - | - | 3 | Gain | - |
| SPG11 | p.S464P | Missense | SNP | 0.626 | 2 | - | - |
| SPIC | - | - | - | - | 3 | Gain | - |
| SPPL3 | - | - | - | - | 3 | Gain | - |
| SPRYD3 | - | - | - | - | 3 | Gain | - |
| SPRYD4 | - | - | - | - | 3 | Gain | - |
| SPSB2 | - | - | - | - | 3 | Gain | - |
| SPTBN4 | p.A1686V | Missense | SNP | 0.471 | 2 | - | - |
| SPX | - | - | - | - | 3 | Gain | - |
| SRCAP | p.Q3205R | Missense | SNP | 0.400 | 2 | - | - |
| SRGAP1 | - | - | - | - | 3 | Gain | - |
| SRPK3 | p.E501A | Missense | SNP | 0.283 | ND | ND | - |
| SRRM4 | p.R209W | Missense | SNP | 0.378 | 3 | Gain | - |
| SRSF9 | - | - | - | - | 3 | Gain | - |
| SS18 | p.I16N | Missense | SNP | 0.550 | 2 | - | - |
| SSH1 | - | - | - | - | 3 | Gain | - |
| SSH2 | p.A1410T | Missense | SNP | 0.549 | 2 | - | - |
| SSPN | - | - | - | - | 3 | Gain | - |
| ST8SIA1 | - | - | - | - | 3 | Gain | - |
| STAB2 | - | - | - | - | 3 | Gain | - |
| STAC3 | - | - | - | - | 3 | Gain | - |
| STAT2 | - | - | - | - | 3 | Gain | - |
| STAT4 | p.I105V | Missense | SNP | 0.467 | 2 | - | - |
| STAT6 | - | - | - | - | 3 | Gain | - |
| STK38L | - | - | - | - | 3 | Gain | - |
| STON1 | - | - | - | - | 1 | Loss | - |
| STON1-GTF2A1L | - | - | - | - | 1 | Loss | - |
| STRAP | - | - | - | - | 3 | Gain | - |
| STRN4 | p.D519Y p.D419N | Missense Missense | SNP SNP | 0.530 0.452 | 2 | - | - |
| STX2 | - | - | - | - | 3 | Gain | - |
| STYK1 | - | - | - | - | 3 | Gain | - |
| SUDS3 | - | - | - | - | 3 | Gain | - |
| SUOX | - | - | - | - | 3 | Gain | - |
| SURF6 | p.E286K | Missense | SNP | 0.449 | 2 | - | - |
| SVOP | - | - | - | - | 3 | Gain | - |
| SYCE1 | - | - | - | - | 3 | Gain | - |
| SYCP3 | - | - | - | - | 3 | Gain | - |
| SYT1 | - | - | - | - | 3 | Gain | - |
| SYT10 | - | - | - | - | 3 | Gain | - |
| TAC3 | - | - | - | - | 3 | Gain | - |
| TAGAP | p.R412H | Missense | SNP | 0.538 | 2 | - | - |
| TAOK3 | - | - | - | - | 3 | Gain | - |
| TAPBPL | - | - | - | - | 3 | Gain | - |
| TARBP2 | - | - | - | - | 3 | Gain | - |
| TAS2R10 | - | - | - | - | 3 | Gain | - |
| TAS2R13 | - | - | - | - | 3 | Gain | - |
| TAS2R14 | - | - | - | - | 3 | Gain | - |
| TAS2R19 | - | - | - | - | 3 | Gain | - |
| TAS2R20 | - | - | - | - | 3 | Gain | - |
| TAS2R30 | - | - | - | - | 3 | Gain | - |
| TAS2R31 | - | - | - | - | 3 | Gain | - |
| TAS2R42 | - | - | - | - | 3 | Gain | - |
| TAS2R46 | - | - | - | - | 3 | Gain | - |
| TAS2R50 | - | - | - | - | 3 | Gain | - |
| TAS2R7 | - | - | - | - | 3 | Gain | - |
| TAS2R8 | - | - | - | - | 3 | Gain | - |
| TAS2R9 | - | - | - | - | 3 | Gain | - |
| TBC1D1 | p.Q238R | Missense | SNP | 0.490 | 2 | - | - |
| TBC1D15 | - | - | - | - | 3 | Gain | - |
| TBC1D22B | p.A487V | Missense | SNP | 0.516 | 2 | - | - |
| TBC1D30 | - | - | - | - | 3 | Gain | - |
| TBK1 | - | - | - | - | 3 | Gain | - |
| TBX3 | - | - | - | - | 3 | Gain | - |
| TBX5 | - | - | - | - | 3 | Gain | - |
| TBXA2R | p.R53W | Missense | SNP | 0.456 | 2 | - | - |
| TCF25 | p.W675G | Missense | SNP | 0.451 | 2 | - | - |
| TCHP | - | - | - | - | 3 | Gain | - |
| TCP11L2 | - | - | - | - | 3 | Gain | - |
| TCTN1 | - | - | - | - | 3 | Gain | - |
| TCTN2 | - | - | - | - | 3 | Gain | - |
| TDG | - | - | - | - | 3 | Gain | - |
| TDO2 | p.E24K | Missense | SNP | 0.547 | 2 | - | - |
| TEAD4 | - | - | - | - | 3 | Gain | - |
| TESC | - | - | - | - | 3 | Gain | - |
| TESPA1 | - | - | - | - | 3 | Gain | - |
| TEX13C | p.M421I | Missense | SNP | 0.413 | ND | ND | - |
| TEX49 | - | - | - | - | 3 | Gain | - |
| TEX52 | - | - | - | - | 3 | Gain | - |
| TFAP2B | p.S45L | Missense | SNP | 0.447 | 2 | - | - |
| TFCP2 | - | - | - | - | 3 | Gain | - |
| TFEB | p.R329C | Missense | SNP | 0.458 | 2 | - | - |
| THAP2 | - | - | - | - | 3 | Gain | - |
| TIGAR | - | - | - | - | 3 | Gain | - |
| TIMELESS | - | - | - | - | 3 | Gain | - |
| TJP2 | p.E329K | Missense | SNP | 0.544 | 2 | - | - |
| TLE4 | p.S629I | Missense | SNP | 0.513 | 2 | - | - |
| TLK2 | - | - | - | - | 1 | Loss | - |
| TM7SF3 | - | - | - | - | 3 | Gain | - |
| TMBIM4 | - | - | - | - | 3 | Gain | - |
| TMBIM6 | - | - | - | - | 3 | Gain | - |
| TMCC3 | - | - | - | - | 3 | Gain | - |
| TMED2 | - | - | - | - | 3 | Gain | - |
| TMEM101 | p.S20L | Missense | SNP | 0.398 | 2 | - | - |
| TMEM102 | p.D59E | Missense | SNP | 0.464 | 2 | - | - |
| TMEM106C | - | - | - | - | 3 | Gain | - |
| TMEM116 | - | - | - | - | 3 | Gain | - |
| TMEM117 | - | - | - | - | 3 | Gain | - |
| TMEM119 | - | - | - | - | 3 | Gain | - |
| TMEM120B | - | - | - | - | 3 | Gain | - |
| TMEM131 | p.A449V | Missense | SNP | 0.528 | 2 | - | - |
| TMEM132B | - | - | - | - | 3 | Gain | - |
| TMEM132C | - | - | - | - | 3 | Gain | - |
| TMEM132D | - | - | - | - | 3 | Gain | - |
| TMEM143 | p.L249P | Missense | SNP | 0.459 | 2 | - | - |
| TMEM184A | p.L50I | Missense | SNP | 0.644 | 2 | - | - |
| TMEM19 | - | - | - | - | 3 | Gain | - |
| TMEM233 | - | - | - | - | 3 | Gain | - |
| TMEM255B | p.S25L | Missense | SNP | 0.423 | 2 | - | - |
| TMEM263 | - | - | - | - | 3 | Gain | - |
| TMEM52B | - | - | - | - | 3 | Gain | - |
| TMIGD2 | p.L156P | Missense | SNP | 0.485 | 2 | - | - |
| TMPO | - | - | - | - | 3 | Gain | - |
| TMPRSS12 | - | - | - | - | 3 | Gain | - |
| TMTC1 | - | - | - | - | 3 | Gain | - |
| TMTC2 | - | - | - | - | 3 | Gain | - |
| TMTC3 | - | - | - | - | 3 | Gain | - |
| TMX3 | p.K194N | Missense | SNP | 0.606 | 2 | - | - |
| TNFAIP6 | p.A42T | Missense | SNP | 0.462 | 2 | - | - |
| TNFRSF1A | - | - | - | - | 3 | Gain | - |
| TNKS | p.R1161W | Missense | SNP | 0.542 | 2 | - | - |
| TNPO2 | p.M740I p.V451I | Missense Missense | SNP SNP | 0.586 0.542 | 2 | - | - |
| TNRC18 | p.R451C | Missense | SNP | 0.471 | 2 | - | - |
| TNRC6B | p.Q1307E | Missense | SNP | 1.000 | 2 | - | - |
| TNS2 | p.R37K | Missense | SNP | 0.243 | 3 | Gain | - |
| TNS3 | p.G934C | Missense | SNP | 0.531 | 2 | - | - |
| TONSL | p.D183H | Missense | SNP | 0.515 | 2 | - | - |
| TPCN1 | - | - | - | - | 3 | Gain | - |
| TPH2 | - | - | - | - | 3 | Gain | - |
| TPI1 | - | - | - | - | 3 | Gain | - |
| TPTE2 | - | - | - | - | 1 | Loss | - |
| TRAF7 | p.R71W | Missense | SNP | 0.546 | 2 | - | - |
| TRAFD1 | - | - | - | - | 3 | Gain | - |
| TRAV8-7 | p.E81D | Missense | SNP | 0.436 | ND | ND | - |
| TRHDE | - | - | - | - | 3 | Gain | - |
| TRIAP1 | - | - | - | - | 3 | Gain | - |
| TRIM10 | p.V383M | Missense | SNP | 0.542 | 2 | - | - |
| TRIM50 | p.D431N | Missense | SNP | 0.505 | 2 | - | - |
| TROAP | - | - | - | - | 3 | Gain | - |
| TRPC3 | p.L252V | Missense | SNP | 0.596 | 2 | - | - |
| TRPC5 | p.R512C | Missense | SNP | 0.295 | ND | ND | - |
| TRPM3 | p.T1290M | Missense | SNP | 0.545 | 2 | - | - |
| TRPM5 | p.L877P | Missense | SNP | 0.470 | 2 | - | - |
| TRPV4 | p.E444D | Missense | SNP | 0.364 | 3 | Gain | - |
| TSC2 | p.A86V | Missense | SNP | 0.426 | 2 | - | - |
| TSFM | - | - | - | - | 3 | Gain | - |
| TSPAN11 | - | - | - | - | 3 | Gain | - |
| TSPAN19 | - | - | - | - | 3 | Gain | - |
| TSPAN31 | - | - | - | - | 3 | Gain | - |
| TSPAN8 | - | - | - | - | 3 | Gain | - |
| TSPAN9 | - | - | - | - | 3 | Gain | - |
| TTC27 | p.L376R | Missense | SNP | 0.489 | 2 | - | - |
| TTC28 | p.V1585M | Missense | SNP | 1.000 | 2 | - | - |
| TTC3 | - | - | - | - | 1 | Loss | - |
| TTC6 | p.R64C | Missense | SNP | 0.527 | 2 | - | - |
| TTLL10 | p.M239V | Missense | SNP | 0.507 | 2 | - | - |
| TTN | p.G30849V p.R1981K | Missense Missense | SNP SNP | 0.522 0.520 | 2 | - | - |
| TUBA1A | - | - | - | - | 3 | Gain | - |
| TUBA1B | - | - | - | - | 3 | Gain | - |
| TUBA1C | - | - | - | - | 3 | Gain | - |
| TUBA3C | p.A385T | Missense | SNP | 0.358 | 1 | Loss | - |
| TUBA3D | p.G17S | Missense | SNP | 0.448 | 2 | - | - |
| TUBB4A | p.T386M p.L130I | Missense Missense | SNP SNP | 0.440 0.493 | 2 | - | - |
| TUBGCP5 | - | - | - | - | 1 | Loss | - |
| TULP3 | - | - | - | - | 3 | Gain | - |
| TWF1 | - | - | - | - | 3 | Gain | - |
| TXNRD1 | - | - | - | - | 3 | Gain | - |
| TYRP1 | p.G10C | Missense | SNP | 0.522 | 2 | - | - |
| U2AF1L4 | p.R174M | Missense | SNP | 0.460 | 2 | - | - |
| UBC | - | - | - | - | 3 | Gain | - |
| UBE2N | - | - | - | - | 3 | Gain | - |
| UBE3B | - | - | - | - | 3 | Gain | - |
| UEVLD | p.X165_splice | Splice_Site | SNP | 0.444 | 2 | - | - |
| UGT1A8 | p.S141C | Missense | SNP | 0.571 | 2 | - | - |
| UHRF1BP1L | - | - | - | - | 3 | Gain | - |
| ULK1 | - | - | - | - | 3 | Gain | - |
| UNC119B | - | - | - | - | 3 | Gain | - |
| UNC13C | p.Q1420R | Missense | SNP | 0.538 | 2 | - | - |
| UNG | - | - | - | - | 3 | Gain | - |
| URB2 | p.A1028T | Missense | SNP | 0.445 | 2 | - | - |
| USP15 | - | - | - | - | 3 | Gain | - |
| USP19 | p.V498A | Missense | SNP | 0.480 | 2 | - | - |
| USP27X | p.G186R | Missense | SNP | 0.647 | ND | ND | - |
| USP30 | - | - | - | - | 3 | Gain | - |
| USP32 | p.T734A | Missense | SNP | 0.330 | 2 | - | - |
| USP44 | - | - | - | - | 3 | Gain | - |
| USP5 | - | - | - | - | 3 | Gain | - |
| USP9X | p.A1875V | Missense | SNP | 0.315 | ND | ND | - |
| UTP20 | - | - | - | - | 3 | Gain | - |
| VAMP1 | - | - | - | - | 3 | Gain | - |
| VCAM1 | p.T79M | Missense | SNP | 0.503 | 2 | - | - |
| VCPIP1 | p.V221L | Missense | SNP | 0.558 | 2 | - | - |
| VDR | - | - | - | - | 3 | Gain | - |
| VEZT | - | - | - | - | 3 | Gain | - |
| VPS13D | p.R3316H | Missense | SNP | 0.543 | 2 | - | - |
| VPS29 | - | - | - | - | 3 | Gain | - |
| VPS33A | - | - | - | - | 3 | Gain | - |
| VPS37B | - | - | - | - | 3 | Gain | - |
| VSIG10 | p.S87F | Missense | SNP | 0.320 | 3 | Gain | - |
| VSTM2L | p.G23S | Missense | SNP | 0.530 | 2 | - | - |
| VWA2 | p.G412D | Missense | SNP | 0.527 | 2 | - | - |
| VWF | - | - | - | - | 3 | Gain | - |
| WAS | p.G465* | Nonsense | SNP | 0.243 | ND | ND | - |
| WASHC3 | - | - | - | - | 3 | Gain | - |
| WASHC4 | - | - | - | - | 3 | Gain | - |
| WBP11 | - | - | - | - | 3 | Gain | - |
| WDFY4 | p.R94S | Missense | SNP | 0.522 | 2 | - | - |
| WDR45 | p.R233H | Missense | SNP | 0.396 | ND | ND | - |
| WDR49 | p.R647H | Missense | SNP | 0.455 | 2 | - | - |
| WDR66 | - | - | - | - | 3 | Gain | - |
| WIF1 | - | - | - | - | 3 | Gain | - |
| WNK1 | - | - | - | - | 3 | Gain | - |
| WNK3 | p.K1437Q | Missense | SNP | 0.363 | ND | ND | - |
| WNT1 | - | - | - | - | 3 | Gain | - |
| WNT10B | - | - | - | - | 3 | Gain | - |
| WNT5A | p.V147M | Missense | SNP | 0.471 | 2 | - | - |
| WNT5B | - | - | - | - | 3 | Gain | - |
| WSB2 | - | - | - | - | 3 | Gain | - |
| WSCD2 | - | - | - | - | 3 | Gain | - |
| XPNPEP2 | p.E639K | Missense | SNP | 0.255 | ND | ND | - |
| XPOT | - | - | - | - | 3 | Gain | - |
| YAF2 | - | - | - | - | 3 | Gain | - |
| YARS2 | - | - | - | - | 3 | Gain | - |
| YBX3 | - | - | - | - | 3 | Gain | - |
| YEATS4 | - | - | - | - | 3 | Gain | - |
| ZBTB20 | p.E728K | Missense | SNP | 0.439 | 2 | - | - |
| ZBTB33 | . | Splice_Site | SNP | 0.366 | ND | ND | - |
| ZBTB39 | - | - | - | - | 3 | Gain | - |
| ZC3H10 | - | - | - | - | 3 | Gain | - |
| ZCCHC8 | - | - | - | - | 3 | Gain | - |
| ZCRB1 | - | - | - | - | 3 | Gain | - |
| ZDHHC17 | - | - | - | - | 3 | Gain | - |
| ZDHHC20 | p.F245V | Missense | SNP | 0.561 | 2 | - | - |
| ZFC3H1 | - | - | - | - | 3 | Gain | - |
| ZFHX4 | p.E2641K p.V2648A | Missense Missense | SNP SNP | 0.451 0.422 | 2 | - | - |
| ZHX3 | p.N249K | Missense | SNP | 0.556 | 2 | - | - |
| ZMPSTE24 | p.K321N | Missense | SNP | 0.531 | 2 | - | - |
| ZMYM2 | p.L1147I | Missense | SNP | 0.485 | 2 | - | - |
| ZMYND8 | p.C122Y | Missense | SNP | 0.567 | 2 | - | - |
| ZNF10 | - | - | - | - | 3 | Gain | - |
| ZNF140 | - | - | - | - | 3 | Gain | - |
| ZNF185 | p.A116T | Missense | SNP | 0.327 | ND | ND | - |
| ZNF26 | - | - | - | - | 3 | Gain | - |
| ZNF268 | - | - | - | - | 3 | Gain | - |
| ZNF384 | - | - | - | - | 3 | Gain | - |
| ZNF385A | - | - | - | - | 3 | Gain | - |
| ZNF467 | p.A447V | Missense | SNP | 0.617 | 2 | - | - |
| ZNF469 | p.N617S p.T2559I | Missense Missense | SNP SNP | 0.446 0.452 | 2 | - | - |
| ZNF518A | p.E95G | Missense | SNP | 0.397 | 2 | - | - |
| ZNF585B | p.G714E | Missense | SNP | 0.413 | 2 | - | - |
| ZNF605 | - | - | - | - | 3 | Gain | - |
| ZNF641 | - | - | - | - | 3 | Gain | - |
| ZNF664 | - | - | - | - | 3 | Gain | - |
| ZNF665 | p.A69V | Missense | SNP | 0.523 | 2 | - | - |
| ZNF687 | p.L657I | Missense | SNP | 0.483 | 2 | - | - |
| ZNF705A | - | - | - | - | 3 | Gain | - |
| ZNF711 | p.Q127H | Missense | SNP | 0.623 | ND | ND | - |
| ZNF740 | - | - | - | - | 3 | Gain | - |
| ZNF746 | p.T131M | Missense | SNP | 0.495 | 2 | - | - |
| ZNF804A | p.R770Q | Missense | SNP | 0.476 | 2 | - | - |
| ZNF84 | - | - | - | - | 3 | Gain | - |
| ZNF891 | - | - | - | - | 3 | Gain | - |
| ZNRF3 | p.G96D | Missense | SNP | 1.000 | 2 | - | - |
| ZSCAN12 | p.T79I | Missense | SNP | 0.448 | 2 | - | - |