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 | 0.543 | 2 | - | - |
ABCA9 | p.V1389M | Missense | SNP | 0.555 | 2 | - | - |
ABCB9 | - | - | - | - | 3 | Gain | - |
ABCC4 | p.G1174E | Missense | SNP | 0.509 | 2 | - | - |
ABCC9 | - | - | - | - | 3 | Gain | - |
ABCD2 | - | - | - | - | 3 | Gain | - |
ABHD2 | p.D43A | Missense | SNP | 0.495 | 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 | 0.410 | 2 | - | - |
ACMSD | p.A154V | Missense | SNP | 0.475 | 2 | - | - |
ACOT11 | p.N583S | Missense | SNP | 0.420 | 2 | - | - |
ACRBP | - | - | - | - | 3 | Gain | - |
ACSF2 | p.P157T | Missense | SNP | 0.421 | 2 | - | - |
ACSM4 | - | - | - | - | 3 | Gain | - |
ACSS3 | - | - | - | - | 3 | Gain | - |
ACTN4 | - | - | - | - | 2 | - | AL139099.4--ACTN4 |
ACTR6 | - | - | - | - | 3 | Gain | - |
ACVR1B | - | - | - | - | 3 | Gain | - |
ACVRL1 | - | - | - | - | 3 | Gain | - |
ADAM22 | p.Q553* | Nonsense | SNP | 0.551 | 2 | - | - |
ADAMTS16 | p.T702I | Missense | SNP | 0.421 | 2 | - | - |
ADAMTS20 | - | - | - | - | 3 | Gain | - |
ADAMTS6 | p.A526S | Missense | SNP | 0.453 | 2 | - | - |
ADCK1 | p.T382M | Missense | SNP | 0.462 | 2 | - | - |
ADCY3 | p.R478H | Missense | SNP | 0.480 | 2 | - | - |
ADCY6 | - | - | - | - | 3 | Gain | - |
ADCY9 | p.L323P | Missense | SNP | 0.528 | 2 | - | - |
ADGRB3 | p.G145W p.R1279I | Missense Missense | SNP SNP | 0.414 0.463 | 2 | - | - |
ADGRD1 | - | - | - | - | 3 | Gain | - |
ADIPOR2 | - | - | - | - | 3 | Gain | - |
ADRA1D | p.A69S | Missense | SNP | 0.433 | 2 | - | - |
ADRB3 | p.R286W | Missense | SNP | 0.366 | 2 | - | - |
AEBP2 | - | - | - | - | 3 | Gain | - |
AFAP1L2 | p.R498C | Missense | SNP | 0.531 | 2 | - | - |
AFG3L2 | p.A411V | Missense | SNP | 0.532 | 2 | - | - |
AGAP2 | - | - | - | - | 3 | Gain | - |
AGL | p.I1144M | Missense | SNP | 0.471 | 2 | - | - |
AGPS | p.M321T | Missense | SNP | 0.479 | 2 | - | - |
AHNAK | p.L1380P | Missense | SNP | 0.456 | 2 | - | - |
AHR | p.F594S | Missense | SNP | 0.503 | 2 | - | - |
AICDA | - | - | - | - | 3 | Gain | - |
AJUBA | p.E497D | Missense | SNP | 0.413 | 2 | - | - |
AKAP11 | p.N843K p.A1570T | Missense Missense | SNP SNP | 0.521 0.506 | 2 | - | - |
AKAP3 | - | - | - | - | 3 | Gain | - |
AKAP8L | p.X272_splice | Splice_Site | SNP | 0.497 | 2 | - | - |
AL021546.1 | - | - | - | - | 3 | Gain | - |
AL139099.4 | - | - | - | - | ND | ND | AL139099.4--ACTN4 |
AL445238.1 | - | - | - | - | 3 | Gain | - |
AL445989.1 | - | - | - | - | 3 | Gain | - |
ALDH1L2 | - | - | - | - | 3 | Gain | - |
ALDH2 | - | - | - | - | 3 | Gain | - |
ALDH4A1 | p.R139C | Missense | SNP | 0.547 | 2 | - | - |
ALG10 | p.P409H | Missense | SNP | 0.650 | 3 | Gain | - |
ALG10B | - | - | - | - | 3 | Gain | - |
ALK | p.E427G | Missense | SNP | 0.566 | 2 | - | - |
ALKBH2 | - | - | - | - | 3 | Gain | - |
ALOX5 | p.L317P | Missense | SNP | 0.396 | 2 | - | - |
ALPK2 | p.A202V | Missense | SNP | 0.395 | 2 | - | - |
ALX1 | p.R312* | Nonsense | SNP | 0.374 | 3 | Gain | - |
ALYREF | p.Y146C | Missense | SNP | 0.506 | 2 | - | - |
AMDHD1 | - | - | - | - | 3 | Gain | - |
AMHR2 | - | - | - | - | 3 | Gain | - |
AMIGO2 | - | - | - | - | 3 | Gain | - |
AMN1 | - | - | - | - | 3 | Gain | - |
ANAPC5 | - | - | - | - | 3 | Gain | - |
ANAPC7 | - | - | - | - | 3 | Gain | - |
ANGEL1 | p.P650L | Missense | SNP | 0.466 | 2 | - | - |
ANHX | - | - | - | - | 3 | Gain | - |
ANK3 | p.R290* | Nonsense | SNP | 0.468 | 2 | - | - |
ANKLE2 | - | - | - | - | 3 | Gain | - |
ANKRD13A | - | - | - | - | 3 | Gain | - |
ANKRD33 | - | - | - | - | 3 | Gain | - |
ANKRD35 | p.L206P | Missense | SNP | 0.482 | 2 | - | - |
ANKRD50 | p.I1332M | Missense | SNP | 0.519 | 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 | 0.462 | 2 | - | - |
APOBEC1 | - | - | - | - | 3 | Gain | - |
APOF | - | - | - | - | 3 | Gain | - |
APOH | p.P53S | Missense | SNP | 0.495 | 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 | 0.485 | 2 | - | - |
ARHGAP9 | p.R342G | Missense | SNP | 0.640 | 3 | Gain | - |
ARHGDIB | p.A79V | Missense | SNP | 0.620 | 3 | Gain | - |
ARHGDIG | p.X25_splice | Splice_Site | SNP | 0.370 | 2 | - | - |
ARHGEF10 | p.G360R | Missense | SNP | 0.474 | 2 | - | - |
ARHGEF12 | p.P1078S | Missense | SNP | 0.487 | 2 | - | - |
ARHGEF25 | - | - | - | - | 3 | Gain | - |
ARHGEF5 | - | - | - | - | 1 | Loss | - |
ARID2 | - | - | - | - | 3 | Gain | - |
ARL1 | - | - | - | - | 3 | Gain | - |
ARL10 | p.P5A | Missense | SNP | 0.493 | 2 | - | - |
ARL15 | p.F18S | Missense | SNP | 0.459 | 2 | - | - |
ARL6IP4 | - | - | - | - | 3 | Gain | - |
ARMCX3 | p.Y22C p.A183V | Missense Missense | SNP SNP | 0.348 0.278 | ND | ND | - |
ARNTL2 | - | - | - | - | 3 | Gain | - |
ARPC3 | - | - | - | - | 3 | Gain | - |
ART4 | - | - | - | - | 3 | Gain | - |
ARX | p.V64M | Missense | SNP | 0.306 | ND | ND | - |
ASB8 | - | - | - | - | 3 | Gain | - |
ASCL1 | - | - | - | - | 3 | Gain | - |
ASCL4 | - | - | - | - | 3 | Gain | - |
ASIC1 | - | - | - | - | 3 | Gain | - |
ASS1 | p.A258T | Missense | SNP | 0.468 | 2 | - | - |
ASTE1 | p.A467S | Missense | SNP | 0.438 | 2 | - | - |
ATAD2 | p.G561R | Missense | SNP | 0.507 | 2 | - | - |
ATAD3A | p.R256H | Missense | SNP | 0.639 | 2 | - | - |
ATF1 | - | - | - | - | 3 | Gain | - |
ATF7 | - | - | - | - | 3 | Gain | - |
ATF7IP | - | - | - | - | 3 | Gain | - |
ATG101 | - | - | - | - | 3 | Gain | - |
ATG4B | p.G254C | Missense | SNP | 0.518 | 2 | - | - |
ATG9B | p.R524H | Missense | SNP | 0.519 | 2 | - | - |
ATL2 | p.L478R | Missense | SNP | 0.478 | 2 | - | - |
ATN1 | - | - | - | - | 3 | Gain | - |
ATP10A | p.G1328R | Missense | SNP | 0.450 | 2 | - | - |
ATP10D | p.L839I | Missense | SNP | 0.496 | 2 | - | - |
ATP11C | p.A468T | Missense | SNP | 0.290 | ND | ND | - |
ATP1A1 | p.E1003K p.Y1023C | Missense Missense | SNP SNP | 0.487 0.477 | 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 | 0.381 0.624 | 2 | - | - |
ATXN2 | - | - | - | - | 3 | Gain | - |
ATXN7L3B | - | - | - | - | 3 | Gain | - |
AURKA | p.H366R | Missense | SNP | 0.495 | 2 | - | - |
AVIL | - | - | - | - | 3 | Gain | - |
AVPR1A | - | - | - | - | 3 | Gain | - |
AVPR1B | p.V285G | Missense | SNP | 0.480 | 2 | - | - |
AXIN2 | p.V539A p.T536M | Missense Missense | SNP SNP | 0.525 0.500 | 2 | - | - |
B3GAT1 | p.L115I | Missense | SNP | 0.492 | 2 | - | - |
B3GNT4 | - | - | - | - | 3 | Gain | - |
B4GALNT1 | - | - | - | - | 3 | Gain | - |
B4GALNT3 | - | - | - | - | 3 | Gain | - |
B4GALT4 | p.R301W | Missense | SNP | 0.481 | 2 | - | - |
BACE1 | p.R296H | Missense | SNP | 0.419 | 2 | - | - |
BAHD1 | p.A702V | Missense | SNP | 0.496 | 2 | - | - |
BANP | p.A153T | Missense | SNP | 0.526 | 2 | - | - |
BAZ2A | - | - | - | - | 3 | Gain | - |
BBS10 | - | - | - | - | 3 | Gain | - |
BCAR1 | p.R612W p.G267C | Missense Missense | SNP SNP | 0.489 0.485 | 2 | - | - |
BCAS4 | p.P200T | Missense | SNP | 0.537 | 2 | - | - |
BCAT1 | - | - | - | - | 3 | Gain | - |
BCDIN3D | - | - | - | - | 3 | Gain | - |
BCKDHB | p.R111* | Nonsense | SNP | 0.383 | 2 | - | - |
BCL2L14 | - | - | - | - | 3 | Gain | - |
BCL7A | - | - | - | - | 3 | Gain | - |
BEND3 | p.D364G | Missense | SNP | 0.458 | 2 | - | - |
BEST3 | - | - | - | - | 3 | Gain | - |
BHLHE41 | - | - | - | - | 3 | Gain | - |
BICC1 | p.A3T | Missense | SNP | 0.560 | 2 | - | - |
BICD1 | - | - | - | - | 3 | Gain | - |
BICDL1 | - | - | - | - | 3 | Gain | - |
BIN2 | - | - | - | - | 3 | Gain | - |
BIN3 | p.K113R | Missense | SNP | 0.485 | 2 | - | - |
BLACE | p.I5S | Missense | SNP | 0.508 | ND | ND | - |
BLOC1S1 | - | - | - | - | 3 | Gain | - |
BLOC1S1-RDH5 | - | - | - | - | 3 | Gain | - |
BMPR2 | - | - | - | - | 2 | - | BMPR2--FAM117B |
BORCS5 | - | - | - | - | 3 | Gain | - |
BRAF | p.V600E | Missense | SNP | 0.421 | 2 | - | - |
BRAP | - | - | - | - | 3 | Gain | - |
BRI3BP | - | - | - | - | 3 | Gain | - |
BRINP3 | p.K541T | Missense | SNP | 0.526 | 3 | Gain | - |
BTBD11 | - | - | - | - | 3 | Gain | - |
BTG1 | - | - | - | - | 3 | Gain | - |
C10orf71 | p.A11V | Missense | SNP | 0.444 | 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 | 0.512 | ND | ND | - |
C1GALT1C1 | p.H37P | Missense | SNP | 0.668 | ND | ND | - |
C1orf204 | p.A149T | Missense | SNP | 0.534 | ND | ND | - |
C1orf228 | p.A23T | Missense | SNP | 0.479 | ND | ND | - |
C1QL4 | - | - | - | - | 3 | Gain | - |
C1R | - | - | - | - | 3 | Gain | - |
C1RL | - | - | - | - | 3 | Gain | - |
C1S | - | - | - | - | 3 | Gain | - |
C2CD4D | p.P184L | Missense | SNP | 0.435 | 2 | - | - |
C2CD5 | - | - | - | - | 3 | Gain | - |
C2orf16 | p.L1534H | Missense | SNP | 0.468 | 2 | - | - |
C3AR1 | - | - | - | - | 3 | Gain | - |
C4B | - | - | - | - | 1 | Loss | - |
CA4 | p.A13V | Missense | SNP | 0.429 | 2 | - | - |
CABP1 | - | - | - | - | 3 | Gain | - |
CACNA1A | p.P2421V | Missense | DNP | 0.481 | 2 | - | - |
CACNA1B | p.S761L | Missense | SNP | 0.387 | 2 | - | - |
CACNA1C | p.A1668T | Missense | SNP | 0.315 | 3 | Gain | - |
CACNA2D4 | - | - | - | - | 3 | Gain | - |
CACNB3 | - | - | - | - | 3 | Gain | - |
CADM2 | - | - | - | - | 3 | Gain | - |
CALCOCO1 | - | - | - | - | 3 | Gain | - |
CALCRL | p.R355* | Nonsense | SNP | 0.534 | 2 | - | - |
CAMKK2 | - | - | - | - | 3 | Gain | - |
CAND1 | - | - | - | - | 3 | Gain | - |
CAPNS1 | p.F164S | Missense | SNP | 0.500 | 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 | 0.579 0.416 0.520 | 2 | - | - |
CASC1 | - | - | - | - | 3 | Gain | - |
CATIP | p.F354L | Missense | SNP | 0.424 | 2 | - | - |
CBLN4 | p.T134P | Missense | SNP | 0.423 | 2 | - | - |
CBX5 | - | - | - | - | 3 | Gain | - |
CCDC102B | p.D477Y | Missense | SNP | 0.401 | 2 | - | - |
CCDC13 | p.L415P | Missense | SNP | 0.540 | 2 | - | - |
CCDC184 | - | - | - | - | 3 | Gain | - |
CCDC27 | p.R76W | Missense | SNP | 0.516 | 2 | - | - |
CCDC38 | - | - | - | - | 3 | Gain | - |
CCDC59 | - | - | - | - | 3 | Gain | - |
CCDC60 | - | - | - | - | 3 | Gain | - |
CCDC62 | - | - | - | - | 3 | Gain | - |
CCDC63 | - | - | - | - | 3 | Gain | - |
CCDC65 | p.X394_splice | Splice_Site | SNP | 0.693 | 3 | Gain | - |
CCDC77 | - | - | - | - | 3 | Gain | - |
CCDC91 | - | - | - | - | 3 | Gain | - |
CCDC92 | - | - | - | - | 3 | Gain | - |
CCDC94 | p.E170K | Missense | SNP | 0.593 | ND | ND | - |
CCER1 | - | - | - | - | 3 | Gain | - |
CCND2 | - | - | - | - | 3 | Gain | - |
CCNJ | p.S267L | Missense | SNP | 0.494 | 2 | - | - |
CCNT1 | - | - | - | - | 3 | Gain | - |
CCNYL1 | p.N180D | Missense | SNP | 0.521 | 2 | - | - |
CCSER1 | p.L531R | Missense | SNP | 0.560 | 2 | - | - |
CCT2 | - | - | - | - | 3 | Gain | - |
CD101 | p.D772A | Missense | SNP | 0.489 | 2 | - | - |
CD163 | - | - | - | - | 3 | Gain | - |
CD163L1 | - | - | - | - | 3 | Gain | - |
CD22 | p.E203* | Nonsense | SNP | 0.444 | 2 | - | - |
CD27 | - | - | - | - | 3 | Gain | - |
CD4 | - | - | - | - | 3 | Gain | - |
CD53 | p.R165Q | Missense | SNP | 0.484 | 2 | - | - |
CD63 | - | - | - | - | 3 | Gain | - |
CD69 | - | - | - | - | 3 | Gain | - |
CD9 | - | - | - | - | 3 | Gain | - |
CDC42BPG | p.V304M p.V205A | Missense Missense | SNP SNP | 0.513 0.502 | 2 | - | - |
CDCA3 | - | - | - | - | 3 | Gain | - |
CDH4 | p.W113C | Missense | SNP | 0.361 | 2 | - | - |
CDH5 | p.R621Q | Missense | SNP | 0.524 | 2 | - | - |
CDK17 | - | - | - | - | 3 | Gain | - |
CDK2 | - | - | - | - | 3 | Gain | - |
CDK2AP1 | - | - | - | - | 3 | Gain | - |
CDK4 | p.R210Q | Missense | SNP | 0.420 | 3 | Gain | - |
CDK5 | p.R200W | Missense | SNP | 0.513 | 2 | - | - |
CDK5R2 | p.G357R | Missense | SNP | 0.471 | 2 | - | - |
CDKN1B | - | - | - | - | 3 | Gain | - |
CDRT1 | p.I76T | Missense | SNP | 0.478 | 2 | - | - |
CECR6 | p.G159S | Missense | SNP | 1.000 | ND | ND | - |
CELA1 | - | - | - | - | 3 | Gain | - |
CELF3 | p.X76_splice | Splice_Site | SNP | 0.446 | 2 | - | - |
CELSR1 | p.R2406* p.R291H | Nonsense Missense | SNP SNP | 1.000 1.000 | 2 | - | - |
CEMIP | p.G118D | Missense | SNP | 0.591 | 2 | - | - |
CEP290 | p.X314_splice | Splice_Site | SNP | 0.297 | 3 | Gain | - |
CEP295 | p.L482R | Missense | SNP | 0.446 | 2 | - | - |
CEP63 | p.W43R | Missense | SNP | 0.449 | 2 | - | - |
CEP83 | - | - | - | - | 3 | Gain | - |
CERS5 | - | - | - | - | 3 | Gain | - |
CES2 | p.G88D | Missense | SNP | 0.525 | 2 | - | - |
CFAP221 | p.G716R | Missense | SNP | 0.519 | 2 | - | - |
CFAP47 | p.D385G | Missense | SNP | 0.404 | ND | ND | - |
CFAP54 | - | - | - | - | 3 | Gain | - |
CFAP65 | p.S48R | Missense | SNP | 0.535 | 2 | - | - |
CFAP73 | - | - | - | - | 3 | Gain | - |
CFH | p.G486E | Missense | DNP | 0.440 | 2 | - | - |
CFHR4 | p.D424N | Missense | SNP | 0.456 | 2 | - | - |
CGRRF1 | p.P238S | Missense | SNP | 0.471 | 2 | - | - |
CHCHD2 | p.A37V | Missense | SNP | 0.350 | 2 | - | - |
CHCHD7 | p.S43L | Missense | SNP | 0.457 | 2 | - | - |
CHD4 | - | - | - | - | 3 | Gain | - |
CHFR | - | - | - | - | 3 | Gain | - |
CHPT1 | - | - | - | - | 3 | Gain | - |
CHRNA4 | p.L619M | Missense | SNP | 0.524 | 2 | - | - |
CHST11 | - | - | - | - | 3 | Gain | - |
CHST2 | p.D441N | Missense | SNP | 0.524 | 2 | - | - |
CHST7 | p.G415S | Missense | SNP | 0.355 | ND | ND | - |
CIC | p.R863C | Missense | SNP | 0.514 | 2 | - | - |
CIT | - | - | - | - | 3 | Gain | - |
CKAP4 | - | - | - | - | 3 | Gain | - |
CLASP2 | p.R1236W | Missense | SNP | 0.428 | 2 | - | - |
CLASRP | p.D81N | Missense | SNP | 0.523 | 2 | - | - |
CLEC12A | - | - | - | - | 3 | Gain | - |
CLEC12B | - | - | - | - | 3 | Gain | - |
CLEC16A | p.T848A | Missense | SNP | 0.366 | 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 | 0.471 | 2 | - | - |
CLIP1 | - | - | - | - | 3 | Gain | - |
CLIP2 | p.M653V | Missense | SNP | 0.516 | 2 | - | - |
CLLU1OS | - | - | - | - | 3 | Gain | - |
CLSTN3 | - | - | - | - | 3 | Gain | - |
CLTA | p.R213W | Missense | SNP | 0.529 | 2 | - | - |
CMAS | - | - | - | - | 3 | Gain | - |
CMKLR1 | - | - | - | - | 3 | Gain | - |
CNN1 | p.D52G | Missense | SNP | 0.508 | 2 | - | - |
CNOT2 | - | - | - | - | 3 | Gain | - |
CNPY2 | - | - | - | - | 3 | Gain | - |
CNTN1 | - | - | - | - | 3 | Gain | - |
CNTN6 | p.G664S | Missense | SNP | 0.417 | 2 | - | - |
CNTNAP2 | - | - | - | - | 4 | Gain | - |
COL15A1 | p.D639G | Missense | SNP | 0.547 | 2 | - | - |
COL2A1 | - | - | - | - | 3 | Gain | - |
COL5A1 | p.G607R | Missense | SNP | 0.463 | 2 | - | - |
COLQ | p.G231* | Nonsense | SNP | 0.551 | 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 | 0.546 | 2 | - | - |
CPM | - | - | - | - | 3 | Gain | - |
CPNE8 | - | - | - | - | 3 | Gain | - |
CPSF4L | p.R73Q | Missense | SNP | 0.441 | 2 | - | - |
CPSF6 | - | - | - | - | 3 | Gain | - |
CPXM1 | p.V356M | Missense | SNP | 0.437 | 2 | - | - |
CRACR2A | - | - | - | - | 3 | Gain | - |
CRADD | - | - | - | - | 3 | Gain | - |
CRAT | p.K426E | Missense | SNP | 0.438 | 2 | - | - |
CRB1 | p.K553T | Missense | SNP | 0.513 | 2 | - | - |
CREB3L1 | p.S68R | Missense | SNP | 0.464 | 2 | - | - |
CREBL2 | - | - | - | - | 3 | Gain | - |
CRIPAK | p.H442N | Missense | SNP | 0.423 | ND | ND | - |
CRTAC1 | p.H556R | Missense | SNP | 0.585 | 2 | - | - |
CRY1 | - | - | - | - | 3 | Gain | - |
CS | p.K382R | Missense | SNP | 0.612 | 3 | Gain | - |
CSAD | - | - | - | - | 3 | Gain | - |
CSMD1 | p.I1814F | Missense | SNP | 0.444 | 2 | - | - |
CSNK2A1 | p.Y125C | Missense | SNP | 0.365 | 2 | - | - |
CSRNP2 | - | - | - | - | 3 | Gain | - |
CSRP2 | - | - | - | - | 3 | Gain | - |
CSTB | p.Y97* | Nonsense | SNP | 0.508 | 2 | - | - |
CTAGE1 | p.R556S | Missense | SNP | 0.440 | 2 | - | - |
CTAGE8 | - | - | - | - | 1 | Loss | - |
CTC-260F20.3 | p.A106V | Missense | SNP | 0.467 | ND | ND | - |
CTDSP2 | - | - | - | - | 3 | Gain | - |
CTPS1 | p.G558D | Missense | SNP | 0.503 | 2 | - | - |
CUBN | p.N2576D | Missense | SNP | 0.410 | 2 | - | - |
CUX2 | - | - | - | - | 3 | Gain | - |
CYP21A2 | - | - | - | - | 1 | Loss | - |
CYP26C1 | p.A164V | Missense | SNP | 0.466 | 2 | - | - |
CYP27B1 | - | - | - | - | 3 | Gain | - |
CYP2E1 | - | - | - | - | 3 | Gain | - |
DACH1 | - | - | - | - | 3 | Gain | - |
DACT3 | p.P495H | Missense | SNP | 0.541 | 2 | - | - |
DAO | - | - | - | - | 3 | Gain | - |
DAZAP2 | - | - | - | - | 3 | Gain | - |
DBX2 | - | - | - | - | 3 | Gain | - |
DCC | p.P234T | Missense | SNP | 0.446 | 2 | - | - |
DCD | - | - | - | - | 3 | Gain | - |
DCHS2 | p.A309D | Missense | SNP | 0.435 | 2 | - | - |
DCN | - | - | - | - | 3 | Gain | - |
DCP1B | - | - | - | - | 3 | Gain | - |
DCST2 | p.M314L | Missense | SNP | 0.591 | 2 | - | - |
DCTN2 | - | - | - | - | 3 | Gain | - |
DDIT3 | - | - | - | - | 3 | Gain | - |
DDN | p.Q29* | Nonsense | SNP | 0.331 | 3 | Gain | - |
DDX11 | p.K209N | Missense | SNP | 0.232 | 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 | 0.503 | 2 | - | - |
DEPDC4 | - | - | - | - | 3 | Gain | - |
DERA | - | - | - | - | 3 | Gain | - |
DGKA | p.P454S | Missense | SNP | 0.356 | 3 | Gain | - |
DHH | p.G304S | Missense | SNP | 0.665 | 3 | Gain | - |
DHX37 | p.R1097G | Missense | SNP | 0.320 | 3 | Gain | - |
DIABLO | - | - | - | - | 3 | Gain | - |
DIP2B | - | - | - | - | 3 | Gain | - |
DISP1 | p.S957L | Missense | SNP | 0.534 | 2 | - | - |
DMRTA2 | p.R105C | Missense | SNP | 0.500 | 2 | - | - |
DNAH1 | p.H3607L | Missense | SNP | 0.497 | 2 | - | - |
DNAH10 | p.Q3307H | Missense | SNP | 0.300 | 3 | Gain | - |
DNAH11 | p.L1636F | Missense | SNP | 0.470 | 2 | - | - |
DNAH3 | p.F2236V | Missense | SNP | 0.433 | 2 | - | - |
DNAJC14 | - | - | - | - | 3 | Gain | - |
DNAJC22 | - | - | - | - | 3 | Gain | - |
DNAJC6 | p.R806* | Nonsense | SNP | 0.539 | 2 | - | - |
DNM1 | p.L452I | Missense | SNP | 0.533 | 2 | - | - |
DNM1L | - | - | - | - | 3 | Gain | - |
DNMT1 | p.V1284A | Missense | SNP | 0.437 | 2 | - | - |
DOC2B | p.A60T | Missense | SNP | 0.643 | 2 | - | - |
DOCK3 | p.E901D p.H1605R | Missense Missense | SNP SNP | 0.647 0.479 | 2 | - | - |
DOCK6 | - | - | - | - | 3 | Gain | - |
DPCR1 | p.A1237T | Missense | SNP | 0.459 | ND | ND | - |
DPPA3 | - | - | - | - | 3 | Gain | - |
DPT | p.S47G | Missense | SNP | 0.502 | 2 | - | - |
DPY19L2 | p.R147H | Missense | SNP | 0.307 | 3 | Gain | - |
DRAM1 | - | - | - | - | 3 | Gain | - |
DRD3 | p.P247L | Missense | SNP | 0.457 | 2 | - | - |
DRD4 | p.A234V | Missense | SNP | 0.505 | 2 | - | - |
DSE | p.K834E | Missense | SNP | 0.362 | 2 | - | - |
DSPP | p.S293G | Missense | SNP | 0.541 | 2 | - | - |
DSTYK | p.G30V | Missense | SNP | 0.435 | 2 | - | - |
DTD1 | p.V133A | Missense | SNP | 0.401 | 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 | 0.509 | 2 | - | - |
EDRF1 | p.R953* | Nonsense | SNP | 0.454 | 2 | - | - |
EEA1 | - | - | - | - | 3 | Gain | - |
EEF1AKMT3 | - | - | - | - | 3 | Gain | - |
EFNA1 | p.L197F | Missense | SNP | 0.485 | 2 | - | - |
EGFL6 | p.A48V | Missense | SNP | 0.401 | ND | ND | - |
EGR4 | p.P376L | Missense | SNP | 0.493 | 2 | - | - |
EHBP1 | p.V29A | Missense | SNP | 0.421 | 2 | - | - |
EID3 | - | - | - | - | 3 | Gain | - |
EIF1 | - | - | - | - | 2 | - | EIF1--FCGBP |
EIF2B1 | - | - | - | - | 3 | Gain | - |
EIF2S3B | - | - | - | - | 3 | Gain | - |
EIF3G | p.S217R | Missense | SNP | 0.502 | 2 | - | - |
EIF4B | - | - | - | - | 3 | Gain | - |
EIF4G1 | p.R901C | Missense | SNP | 0.440 | 2 | - | - |
ELK3 | - | - | - | - | 3 | Gain | - |
EMG1 | - | - | - | - | 3 | Gain | - |
EMP1 | - | - | - | - | 3 | Gain | - |
ENDOU | - | - | - | - | 3 | Gain | - |
ENO2 | - | - | - | - | 3 | Gain | - |
EOMES | p.R602S | Missense | SNP | 0.495 | 2 | - | - |
EP400 | - | - | - | - | 3 | Gain | - |
EPB41 | p.T798S | Missense | SNP | 0.388 | 2 | - | - |
EPB41L1 | p.A143E | Missense | SNP | 0.472 | 2 | - | - |
EPHA5 | p.Q511H | Missense | SNP | 0.554 | 2 | - | - |
EPHA7 | p.R811W | Missense | SNP | 0.436 | 2 | - | - |
EPS8 | - | - | - | - | 3 | Gain | - |
EPS8L1 | p.R290C | Missense | SNP | 0.502 | 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 | 0.652 | 2 | - | - |
EYS | p.R164Q | Missense | SNP | 0.538 | 2 | - | - |
F10 | p.A474T | Missense | SNP | 0.494 | 2 | - | - |
FAIM2 | - | - | - | - | 3 | Gain | - |
FAM117B | - | - | - | - | 2 | - | BMPR2--FAM117B |
FAM161A | p.E477K p.C426R | Missense Missense | SNP SNP | 0.463 0.506 | 2 | - | - |
FAM179B | p.R722W | Missense | SNP | 0.372 | ND | ND | - |
FAM184A | p.P1109S | Missense | SNP | 0.479 | 2 | - | - |
FAM186A | - | - | - | - | 3 | Gain | - |
FAM186B | - | - | - | - | 3 | Gain | - |
FAM193A | p.E838* | Nonsense | SNP | 0.485 | 2 | - | - |
FAM199X | p.D45N | Missense | SNP | 0.328 | ND | ND | - |
FAM19A2 | - | - | - | - | 3 | Gain | - |
FAM213A | p.V212I | Missense | SNP | 0.474 | ND | ND | - |
FAM216A | - | - | - | - | 3 | Gain | - |
FAM222A | - | - | - | - | 3 | Gain | - |
FAM234B | - | - | - | - | 3 | Gain | - |
FAM71C | - | - | - | - | 3 | Gain | - |
FAM9B | p.G25* | Nonsense | SNP | 0.358 | ND | ND | - |
FAR2 | - | - | - | - | 3 | Gain | - |
FAT4 | p.A4625T | Missense | SNP | 0.549 | 2 | - | - |
FBLL1 | p.A229V | Missense | SNP | 0.530 | 2 | - | - |
FBN2 | p.A1032S | Missense | SNP | 0.469 | 2 | - | - |
FBN3 | p.R2688* | Nonsense | SNP | 0.419 | 2 | - | - |
FBRSL1 | - | - | - | - | 3 | Gain | - |
FBXL14 | - | - | - | - | 3 | Gain | - |
FBXL18 | p.R672W | Missense | SNP | 0.115 | 2 | - | - |
FBXL19 | p.P191T | Missense | SNP | 0.549 | 2 | - | - |
FBXL8 | p.L354M | Missense | SNP | 0.472 | 2 | - | - |
FBXO21 | - | - | - | - | 3 | Gain | - |
FBXO40 | p.H565R | Missense | SNP | 0.437 | 2 | - | - |
FBXW10 | p.P223T | Missense | SNP | 0.435 | 2 | - | - |
FBXW8 | - | - | - | - | 3 | Gain | - |
FCGBP | - | - | - | - | 2 | - | EIF1--FCGBP |
FDPS | p.D317G | Missense | SNP | 0.481 | 2 | - | - |
FEV | p.A165P | Missense | SNP | 0.475 | 2 | - | - |
FGD4 | - | - | - | - | 3 | Gain | - |
FGD6 | p.E795A | Missense | SNP | 0.649 | 3 | Gain | - |
FGF23 | - | - | - | - | 3 | Gain | - |
FGF6 | - | - | - | - | 3 | Gain | - |
FGFR1OP2 | - | - | - | - | 3 | Gain | - |
FHDC1 | p.H593R | Missense | SNP | 0.498 | 2 | - | - |
FIBCD1 | p.F449C | Missense | SNP | 0.489 | 2 | - | - |
FICD | - | - | - | - | 3 | Gain | - |
FIGNL2 | - | - | - | - | 3 | Gain | - |
FKBP11 | - | - | - | - | 3 | Gain | - |
FKBP4 | - | - | - | - | 3 | Gain | - |
FKBP8 | p.S130L | Missense | SNP | 0.386 | 2 | - | - |
FLG2 | - | - | - | - | 3 | Gain | - |
FLNA | p.G1302D | Missense | SNP | 0.320 | ND | ND | - |
FLNB | p.T1076M | Missense | SNP | 0.502 | 2 | - | - |
FLRT2 | p.S173N | Missense | SNP | 0.536 | 3 | Gain | - |
FMNL2 | p.F14I | Missense | SNP | 0.514 | 2 | - | - |
FMNL3 | - | - | - | - | 3 | Gain | - |
FOXC1 | p.F167I | Missense | SNP | 0.445 | 2 | - | - |
FOXE3 | p.D110N | Missense | SNP | 0.539 | 2 | - | - |
FOXG1 | - | - | - | - | 3 | Gain | - |
FOXJ2 | - | - | - | - | 3 | Gain | - |
FOXK1 | p.V676A | Missense | SNP | 0.423 | 2 | - | - |
FOXM1 | - | - | - | - | 3 | Gain | - |
FOXN4 | - | - | - | - | 3 | Gain | - |
FRG2B | - | - | - | - | 3 | Gain | - |
FRMPD3 | p.R1386H | Missense | SNP | 0.667 | ND | ND | - |
FRS2 | - | - | - | - | 3 | Gain | - |
FSIP2 | p.X343_splice | Splice_Site | SNP | 0.561 | 2 | - | - |
FUT9 | p.M50T | Missense | SNP | 0.498 | 2 | - | - |
FZD10 | - | - | - | - | 3 | Gain | - |
FZD7 | p.Y179C | Missense | SNP | 0.461 | 2 | - | - |
GABARAPL1 | - | - | - | - | 3 | Gain | - |
GABPB2 | p.D304V | Missense | SNP | 0.534 | 2 | - | - |
GAL3ST4 | p.A368V | Missense | SNP | 0.465 | 2 | - | - |
GALNT14 | p.V540I | Missense | SNP | 0.548 | 2 | - | - |
GALNT6 | - | - | - | - | 3 | Gain | - |
GALNT8 | - | - | - | - | 3 | Gain | - |
GALNT9 | - | - | - | - | 3 | Gain | - |
GAPDH | - | - | - | - | 3 | Gain | - |
GAR1 | p.G61D | Missense | SNP | 0.496 | 2 | - | - |
GAS2L3 | - | - | - | - | 3 | Gain | - |
GATAD2B | p.R310H | Missense | SNP | 0.472 | 2 | - | - |
GATC | - | - | - | - | 3 | Gain | - |
GCC1 | p.R558Q | Missense | SNP | 0.510 | 2 | - | - |
GCGR | p.X91_splice | Splice_Site | SNP | 0.565 | 2 | - | - |
GCN1 | - | - | - | - | 3 | Gain | - |
GDF11 | - | - | - | - | 3 | Gain | - |
GDF3 | - | - | - | - | 3 | Gain | - |
GDF6 | p.R62W | Missense | SNP | 0.513 | 2 | - | - |
GET4 | p.F203L | Missense | SNP | 0.477 | 2 | - | - |
GFPT1 | p.P109T | Missense | SNP | 0.405 | 2 | - | - |
GINS4 | p.K200M | Missense | SNP | 0.414 | 2 | - | - |
GIT2 | - | - | - | - | 3 | Gain | - |
GLCCI1 | - | - | - | - | 3 | Gain | - |
GLI1 | - | - | - | - | 3 | Gain | - |
GLIPR1 | - | - | - | - | 3 | Gain | - |
GLIPR1L1 | - | - | - | - | 3 | Gain | - |
GLIPR1L2 | - | - | - | - | 3 | Gain | - |
GLRX3 | p.N134D | Missense | SNP | 0.500 | 2 | - | - |
GLS2 | - | - | - | - | 3 | Gain | - |
GLT1D1 | - | - | - | - | 3 | Gain | - |
GLT8D2 | - | - | - | - | 3 | Gain | - |
GLTP | - | - | - | - | 3 | Gain | - |
GLTSCR1 | p.N1324I | Missense | SNP | 0.493 | ND | ND | - |
GNB3 | - | - | - | - | 3 | Gain | - |
GNPTAB | - | - | - | - | 3 | Gain | - |
GNS | - | - | - | - | 3 | Gain | - |
GOLGA3 | - | - | - | - | 3 | Gain | - |
GOLT1B | - | - | - | - | 3 | Gain | - |
GPC5 | - | - | - | - | 3 | Gain | - |
GPC6 | - | - | - | - | 3 | Gain | - |
GPD1 | - | - | - | - | 3 | Gain | - |
GPM6A | p.A223T | Missense | SNP | 0.545 | 2 | - | - |
GPN3 | - | - | - | - | 3 | Gain | - |
GPR162 | - | - | - | - | 3 | Gain | - |
GPR182 | - | - | - | - | 3 | Gain | - |
GPR19 | - | - | - | - | 3 | Gain | - |
GPR37L1 | p.Q306K | Missense | SNP | 0.489 | 2 | - | - |
GPR39 | p.R375H | Missense | SNP | 0.523 | 2 | - | - |
GPR84 | - | - | - | - | 3 | Gain | - |
GPR89A | - | - | - | - | 1 | Loss | - |
GPRC5A | - | - | - | - | 3 | Gain | - |
GPRC5D | - | - | - | - | 3 | Gain | - |
GRASP | - | - | - | - | 3 | Gain | - |
GREB1L | p.A971V | Missense | SNP | 0.542 | 2 | - | - |
GRIA3 | p.Q619* | Nonsense | SNP | 0.273 | ND | ND | - |
GRIN2B | - | - | - | - | 3 | Gain | - |
GRIP1 | p.R905C | Missense | SNP | 0.381 | 3 | Gain | - |
GRM1 | p.S1163R | Missense | SNP | 0.493 | 2 | - | - |
GSE1 | p.R361C | Missense | SNP | 0.467 | 2 | - | - |
GSG1 | - | - | - | - | 3 | Gain | - |
GSG2 | p.H746R | Missense | SNP | 0.504 | ND | ND | - |
GTF2H3 | - | - | - | - | 3 | Gain | - |
GTF3C1 | p.R1514Q | Missense | SNP | 0.372 | 2 | - | - |
GTSF1 | p.A55V | Missense | SNP | 0.341 | 3 | Gain | - |
GUCY1A2 | p.E679K | Missense | SNP | 0.414 | 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 | 0.509 | 2 | - | - |
HCAR1 | - | - | - | - | 3 | Gain | - |
HCAR2 | - | - | - | - | 3 | Gain | - |
HCAR3 | - | - | - | - | 3 | Gain | - |
HCFC2 | - | - | - | - | 3 | Gain | - |
HDAC7 | - | - | - | - | 3 | Gain | - |
HEATR4 | p.Y344* | Nonsense | SNP | 0.480 | 2 | - | - |
HEBP1 | - | - | - | - | 3 | Gain | - |
HECTD4 | p.L3686P p.K1147N | Missense Missense | SNP SNP | 0.640 0.653 | 3 | Gain | - |
HECW1 | p.A775S | Missense | SNP | 0.462 | 2 | - | - |
HECW2 | p.R1119Q p.A422V | Missense Missense | SNP SNP | 0.492 0.465 | 2 | - | - |
HELB | - | - | - | - | 3 | Gain | - |
HIGD1C | - | - | - | - | 3 | Gain | - |
HIP1R | - | - | - | - | 3 | Gain | - |
HIST2H3PS2 | - | - | - | - | 1 | Loss | - |
HIST4H4 | - | - | - | - | 3 | Gain | - |
HMCN2 | p.P3867H | Missense | SNP | 0.526 | 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 | 0.455 | 2 | - | - |
HRK | - | - | - | - | 3 | Gain | - |
HSD17B6 | - | - | - | - | 3 | Gain | - |
HSH2D | p.A282T | Missense | SNP | 0.466 | 2 | - | - |
HSP90B1 | - | - | - | - | 3 | Gain | - |
HSPA1L | p.D595N | Missense | SNP | 0.505 | 2 | - | - |
HSPB8 | - | - | - | - | 3 | Gain | - |
HUNK | p.D494N | Missense | SNP | 0.568 | 2 | - | - |
HVCN1 | - | - | - | - | 3 | Gain | - |
IAPP | - | - | - | - | 3 | Gain | - |
IARS | p.F339S | Missense | SNP | 0.525 | 2 | - | - |
IBTK | p.I526V | Missense | SNP | 0.531 | 2 | - | - |
ICA1 | - | - | - | - | 3 | Gain | - |
ICAM4 | p.R26C | Missense | SNP | 0.533 | 2 | - | - |
IDI1 | p.T141M | Missense | SNP | 0.422 | 2 | - | - |
IFFO1 | - | - | - | - | 3 | Gain | - |
IFIT1 | p.Q410H | Missense | SNP | 0.449 | 2 | - | - |
IFNG | - | - | - | - | 3 | Gain | - |
IFT74 | p.F191L | Missense | SNP | 0.370 | 2 | - | - |
IFT81 | - | - | - | - | 3 | Gain | - |
IGF1 | - | - | - | - | 3 | Gain | - |
IGF2R | p.Y2115C | Missense | SNP | 0.440 | 2 | - | - |
IGFBP6 | - | - | - | - | 3 | Gain | - |
IGSF11 | p.I354M | Missense | SNP | 0.442 | 2 | - | - |
IGSF9B | p.A804T | Missense | SNP | 0.440 | 2 | - | - |
IKBIP | - | - | - | - | 3 | Gain | - |
IKZF4 | - | - | - | - | 3 | Gain | - |
IL18RAP | p.T401M | Missense | SNP | 0.461 | 2 | - | - |
IL22 | - | - | - | - | 3 | Gain | - |
IL23A | - | - | - | - | 3 | Gain | - |
IL26 | - | - | - | - | 3 | Gain | - |
IL2RG | p.Y189H | Missense | SNP | 0.242 | ND | ND | - |
IL31 | - | - | - | - | 3 | Gain | - |
ING4 | - | - | - | - | 3 | Gain | - |
INHBA | p.K163E | Missense | SNP | 0.542 | 2 | - | - |
INHBC | - | - | - | - | 3 | Gain | - |
INHBE | - | - | - | - | 3 | Gain | - |
INTS13 | - | - | - | - | 3 | Gain | - |
IPO8 | - | - | - | - | 3 | Gain | - |
IQCB1 | - | - | - | - | 3 | Gain | - |
IQCD | - | - | - | - | 3 | Gain | - |
IQSEC3 | - | - | - | - | 3 | Gain | - |
IRAK2 | p.S172L | Missense | SNP | 0.525 | 2 | - | - |
IRAK3 | - | - | - | - | 3 | Gain | - |
IRAK4 | - | - | - | - | 3 | Gain | - |
IRF9 | p.R13W | Missense | SNP | 0.486 | 2 | - | - |
IRX1 | p.G121D | Missense | SNP | 0.457 | 2 | - | - |
ISCU | - | - | - | - | 3 | Gain | - |
ITFG2 | - | - | - | - | 3 | Gain | - |
ITGA4 | p.G31S | Missense | SNP | 0.454 | 2 | - | - |
ITGA5 | - | - | - | - | 3 | Gain | - |
ITGA7 | - | - | - | - | 3 | Gain | - |
ITGA9 | p.L645M | Missense | SNP | 0.531 | 2 | - | - |
ITGAD | p.D529G | Missense | SNP | 0.538 | 2 | - | - |
ITGB7 | - | - | - | - | 3 | Gain | - |
ITPR2 | - | - | - | - | 3 | Gain | - |
IZUMO4 | p.T221P | Missense | SNP | 0.363 | 2 | - | - |
JMY | p.Y443H | Missense | SNP | 0.426 | 2 | - | - |
KALRN | p.R1137C | Missense | SNP | 0.453 | 2 | - | - |
KANK2 | - | - | - | - | 3 | Gain | - |
KANSL1L | p.E474K | Missense | SNP | 0.558 | 2 | - | - |
KANSL2 | - | - | - | - | 3 | Gain | - |
KAZN | p.T416M | Missense | SNP | 0.267 | 2 | - | - |
KCNA1 | - | - | - | - | 3 | Gain | - |
KCNA4 | p.C586F | Missense | SNP | 0.484 | 2 | - | - |
KCNA5 | - | - | - | - | 3 | Gain | - |
KCNA6 | - | - | - | - | 3 | Gain | - |
KCNC2 | - | - | - | - | 3 | Gain | - |
KCNG3 | p.A86V | Missense | SNP | 0.481 | 2 | - | - |
KCNH3 | - | - | - | - | 3 | Gain | - |
KCNJ8 | - | - | - | - | 3 | Gain | - |
KCNK15 | p.G201D | Missense | SNP | 0.530 | 2 | - | - |
KCNMA1 | p.D1107N | Missense | SNP | 0.511 | 2 | - | - |
KCNMB4 | - | - | - | - | 3 | Gain | - |
KCNS2 | p.V230M | Missense | SNP | 0.429 | 2 | - | - |
KCTD10 | - | - | - | - | 3 | Gain | - |
KDF1 | p.R146W | Missense | SNP | 0.555 | 2 | - | - |
KDM2B | - | - | - | - | 3 | Gain | - |
KDM5A | - | - | - | - | 3 | Gain | - |
KERA | - | - | - | - | 3 | Gain | - |
KIAA0319 | p.R791* | Nonsense | SNP | 0.504 | 2 | - | - |
KIAA0368 | p.T911N | Missense | SNP | 0.429 | ND | ND | - |
KIAA0556 | p.V970I | Missense | SNP | 0.495 | 2 | - | - |
KIAA0895L | p.P164T | Missense | SNP | 0.443 | 2 | - | - |
KIAA1109 | p.A3291T | Missense | SNP | 0.294 | 2 | - | - |
KIAA1217 | p.S930L | Missense | SNP | 0.449 | 2 | - | - |
KIAA1551 | - | - | - | - | 3 | Gain | - |
KIF13B | p.E944K | Missense | SNP | 0.500 | 2 | - | - |
KIF21A | - | - | - | - | 3 | Gain | - |
KIF3C | p.S216C | Missense | SNP | 0.463 | 2 | - | - |
KIF5A | - | - | - | - | 3 | Gain | - |
KIF5B | p.A461V | Missense | SNP | 0.452 | 2 | - | - |
KIF7 | p.R691C | Missense | SNP | 0.527 | 2 | - | - |
KITLG | - | - | - | - | 3 | Gain | - |
KLC3 | p.E50D | Missense | SNP | 0.614 | 2 | - | - |
KLF9 | p.V43A | Missense | SNP | 0.435 | 2 | - | - |
KLHL1 | - | - | - | - | 3 | Gain | - |
KLHL34 | p.S584L p.T260M | Missense Missense | SNP SNP | 0.403 0.347 | ND | ND | - |
KLHL42 | - | - | - | - | 3 | Gain | - |
KLK14 | p.A60V | Missense | SNP | 0.549 | 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 | 0.404 | 2 | - | - |
KMT2D | p.Q1302R | Missense | SNP | 0.309 | 3 | Gain | - |
KMT5A | - | - | - | - | 3 | Gain | - |
KNTC1 | - | - | - | - | 3 | Gain | - |
KPNA5 | p.A103T | Missense | SNP | 0.472 | 2 | - | - |
KRAS | - | - | - | - | 3 | Gain | - |
KREMEN2 | p.T374M | Missense | SNP | 0.432 | 2 | - | - |
KRR1 | - | - | - | - | 3 | Gain | - |
KRT1 | - | - | - | - | 3 | Gain | - |
KRT12 | p.M129I | Missense | SNP | 0.463 | 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 | - |
KRTAP19-1 | p.G61C | Missense | SNP | 0.466 | 2 | - | - |
KSR2 | - | - | - | - | 3 | Gain | - |
KY | p.A446V | Missense | SNP | 0.506 | 2 | - | - |
LACRT | - | - | - | - | 3 | Gain | - |
LAG3 | - | - | - | - | 3 | Gain | - |
LALBA | - | - | - | - | 3 | Gain | - |
LAMB3 | p.C584* | Nonsense | SNP | 0.462 | 2 | - | - |
LARP4 | - | - | - | - | 3 | Gain | - |
LARS2 | p.E294K | Missense | SNP | 0.485 | 2 | - | - |
LCE5A | p.S61I | Missense | SNP | 0.443 | 2 | - | - |
LDHB | - | - | - | - | 3 | Gain | - |
LDLR | - | - | - | - | 3 | Gain | - |
LDOC1 | p.P47L p.A18T | Missense Missense | SNP SNP | 0.363 0.361 | ND | ND | - |
LEKR1 | p.L102H | Missense | SNP | 0.452 | 2 | - | - |
LEMD3 | - | - | - | - | 3 | Gain | - |
LETMD1 | - | - | - | - | 3 | Gain | - |
LGR5 | - | - | - | - | 3 | Gain | - |
LHPP | p.E177V | Missense | SNP | 0.416 | 2 | - | - |
LHX5 | - | - | - | - | 3 | Gain | - |
LIMA1 | - | - | - | - | 3 | Gain | - |
LIN28A | p.R132Q | Missense | DNP | 0.479 | 2 | - | - |
LIN7A | - | - | - | - | 3 | Gain | - |
LLPH | - | - | - | - | 3 | Gain | - |
LMBR1L | - | - | - | - | 3 | Gain | - |
LMNTD1 | - | - | - | - | 3 | Gain | - |
LMO3 | - | - | - | - | 3 | Gain | - |
LMTK3 | p.A1076T | Missense | SNP | 0.523 | 2 | - | - |
LOXHD1 | p.R615Q p.K82E | Missense Missense | SNP SNP | 0.537 0.447 | 2 | - | - |
LOXL2 | p.R338C | Missense | SNP | 0.502 | 2 | - | - |
LOXL4 | p.R427C | Missense | SNP | 0.404 | 2 | - | - |
LPAR5 | - | - | - | - | 3 | Gain | - |
LPCAT3 | - | - | - | - | 3 | Gain | - |
LRCH4 | p.V663I | Missense | SNP | 0.568 | 2 | - | - |
LRCOL1 | - | - | - | - | 3 | Gain | - |
LRIG3 | - | - | - | - | 3 | Gain | - |
LRMP | - | - | - | - | 3 | Gain | - |
LRP1 | - | - | - | - | 3 | Gain | - |
LRP2 | p.D297Y | Missense | SNP | 0.541 | 2 | - | - |
LRP6 | - | - | - | - | 3 | Gain | - |
LRRC10 | - | - | - | - | 3 | Gain | - |
LRRC23 | - | - | - | - | 3 | Gain | - |
LRRC43 | - | - | - | - | 3 | Gain | - |
LRRC75B | p.L215P | Missense | SNP | 1.000 | 2 | - | - |
LRRIQ1 | - | - | - | - | 3 | Gain | - |
LRRIQ3 | p.T128A | Missense | SNP | 0.496 | 2 | - | - |
LRRK1 | p.V1320A | Missense | SNP | 0.470 | 2 | - | - |
LRRK2 | - | - | - | - | 3 | Gain | - |
LRTM2 | - | - | - | - | 3 | Gain | - |
LTA4H | - | - | - | - | 3 | Gain | - |
LTBR | - | - | - | - | 3 | Gain | - |
LUM | - | - | - | - | 3 | Gain | - |
LY6G5B | p.T27M | Missense | SNP | 0.516 | 2 | - | - |
LYZ | - | - | - | - | 3 | Gain | - |
LZIC | p.L138I | Missense | SNP | 0.486 | 2 | - | - |
M6PR | - | - | - | - | 3 | Gain | - |
MAD1L1 | p.L113I | Missense | SNP | 0.512 | 2 | - | - |
MADCAM1 | p.R188H | Missense | SNP | 0.565 | 2 | - | - |
MAFA | p.E251D | Missense | SNP | 0.408 | 2 | - | - |
MAGEB5 | p.I140T | Missense | SNP | 0.308 | ND | ND | - |
MAGEB6P1 | p.A365S | Missense | SNP | 0.330 | ND | ND | - |
MAGEC1 | p.D91N p.S713R | Missense Missense | SNP SNP | 0.335 0.381 | ND | ND | - |
MAGI2 | p.X180_splice | Splice_Site | SNP | 0.486 | 2 | - | - |
MAGOHB | - | - | - | - | 3 | Gain | - |
MANSC1 | - | - | - | - | 3 | Gain | - |
MANSC4 | - | - | - | - | 3 | Gain | - |
MAP1LC3B2 | - | - | - | - | 3 | Gain | - |
MAP3K1 | p.V569I | Missense | SNP | 0.506 | 2 | - | - |
MAP3K12 | p.G229C | Missense | SNP | 0.385 | 3 | Gain | - |
MAPKAPK5 | - | - | - | - | 3 | Gain | - |
MAPKBP1 | p.X725_splice | Splice_Site | SNP | 0.388 | 2 | - | - |
MARCH9 | - | - | - | - | 3 | Gain | - |
MARS | - | - | - | - | 3 | Gain | - |
MAST2 | p.R1202P | Missense | SNP | 0.484 | 2 | - | - |
MAST4 | p.T1769M | Missense | SNP | 0.517 | 2 | - | - |
MBD1 | p.N554S | Missense | SNP | 0.429 | 2 | - | - |
MBD6 | - | - | - | - | 3 | Gain | - |
MCIDAS | p.A252V | Missense | SNP | 0.477 | 2 | - | - |
MCOLN1 | p.R318C | Missense | SNP | 0.598 | 2 | - | - |
MCRS1 | p.E183V | Missense | SNP | 0.684 | 3 | Gain | - |
MDM1 | - | - | - | - | 3 | Gain | - |
MDM2 | - | - | - | - | 3 | Gain | - |
MED13 | p.X2098_splice | Splice_Site | SNP | 0.481 | 2 | - | - |
MED13L | - | - | - | - | 3 | Gain | - |
MED21 | - | - | - | - | 3 | Gain | - |
MEGF8 | p.S1358P | Missense | SNP | 0.502 | 2 | - | - |
MEI1 | p.A1074V | Missense | SNP | 1.000 | 2 | - | - |
MELTF | p.A383V | Missense | SNP | 0.404 | 2 | - | - |
METAP2 | - | - | - | - | 3 | Gain | - |
METTL1 | - | - | - | - | 3 | Gain | - |
METTL11B | p.V134I | Missense | SNP | 0.397 | 2 | - | - |
METTL13 | p.S99G | Missense | SNP | 0.391 | 2 | - | - |
METTL25 | p.R232S | Missense | SNP | 0.555 | 3 | Gain | - |
METTL7A | - | - | - | - | 3 | Gain | - |
METTL7B | - | - | - | - | 3 | Gain | - |
MEX3B | p.P211S | Missense | SNP | 0.499 | 2 | - | - |
MFAP5 | - | - | - | - | 3 | Gain | - |
MFSD5 | - | - | - | - | 3 | Gain | - |
MGAT4C | - | - | - | - | 3 | Gain | - |
MGAT5 | p.C145R | Missense | SNP | 0.459 | 2 | - | - |
MGP | - | - | - | - | 3 | Gain | - |
MGST1 | - | - | - | - | 3 | Gain | - |
MIP | - | - | - | - | 3 | Gain | - |
MLEC | - | - | - | - | 3 | Gain | - |
MLF2 | - | - | - | - | 3 | Gain | - |
MLXIP | - | - | - | - | 3 | Gain | - |
MLXIPL | p.E30Q | Missense | SNP | 0.444 | 2 | - | - |
MMAB | - | - | - | - | 3 | Gain | - |
MMP17 | - | - | - | - | 3 | Gain | - |
MMP19 | - | - | - | - | 3 | Gain | - |
MMP28 | p.Y283C p.A206V | Missense Missense | SNP SNP | 0.496 0.563 | 2 | - | - |
MMS22L | p.H1047Y | Missense | SNP | 0.448 | 2 | - | - |
MOB4 | p.A102T | Missense | SNP | 0.447 | 2 | - | - |
MON2 | - | - | - | - | 3 | Gain | - |
MORC4 | p.D88N | Missense | SNP | 0.297 | ND | ND | - |
MORN3 | - | - | - | - | 3 | Gain | - |
MPHOSPH9 | - | - | - | - | 3 | Gain | - |
MPL | p.G343E | Missense | SNP | 0.379 | 2 | - | - |
MPO | p.E282K | Missense | SNP | 0.455 | 2 | - | - |
MPZL2 | p.H80R | Missense | SNP | 0.540 | 2 | - | - |
MRM3 | p.A259T | Missense | SNP | 0.576 | 2 | - | - |
MROH2A | p.Q997K | Missense | SNP | 0.526 | 2 | - | - |
MRPL42 | - | - | - | - | 3 | Gain | - |
MRPL51 | - | - | - | - | 3 | Gain | - |
MRPS35 | - | - | - | - | 3 | Gain | - |
MSI1 | - | - | - | - | 3 | Gain | - |
MSRB3 | - | - | - | - | 3 | Gain | - |
MTERF2 | - | - | - | - | 3 | Gain | - |
MTF2 | p.G486* | Nonsense | SNP | 0.444 | 2 | - | - |
MUC19 | - | - | - | - | 3 | Gain | - |
MUC5B | p.P1436L | Missense | SNP | 0.446 | 2 | - | - |
MUCL1 | - | - | - | - | 3 | Gain | - |
MVK | - | - | - | - | 3 | Gain | - |
MXRA5 | p.Q486R | Missense | SNP | 0.331 | ND | ND | - |
MYBPC1 | - | - | - | - | 3 | Gain | - |
MYF5 | - | - | - | - | 3 | Gain | - |
MYF6 | - | - | - | - | 3 | Gain | - |
MYH8 | p.D1344N | Missense | SNP | 0.538 | 2 | - | - |
MYL2 | - | - | - | - | 3 | Gain | - |
MYL6 | - | - | - | - | 3 | Gain | - |
MYL6B | - | - | - | - | 3 | Gain | - |
MYO15B | p.A1123V | Missense | SNP | 0.445 | 2 | - | - |
MYO1A | - | - | - | - | 3 | Gain | - |
MYO1G | p.Q420L | Missense | SNP | 0.484 | 2 | - | - |
MYO1H | - | - | - | - | 3 | Gain | - |
MYOZ1 | p.A157V | Missense | SNP | 0.519 | 2 | - | - |
MYRFL | - | - | - | - | 3 | Gain | - |
MZT2A | p.Q155H | Missense | SNP | 0.515 | 2 | - | - |
NAA25 | - | - | - | - | 3 | Gain | - |
NAB2 | - | - | - | - | 3 | Gain | - |
NABP2 | - | - | - | - | 3 | Gain | - |
NACA | - | - | - | - | 3 | Gain | - |
NALCN | p.R297H | Missense | SNP | 0.482 | 2 | - | - |
NANOG | - | - | - | - | 3 | Gain | - |
NANOGNB | - | - | - | - | 3 | Gain | - |
NAP1L1 | - | - | - | - | 3 | Gain | - |
NAP1L6 | p.E104V | Missense | SNP | 0.282 | ND | ND | - |
NAT8 | p.P50A | Missense | SNP | 0.504 | 2 | - | - |
NAV3 | - | - | - | - | 3 | Gain | - |
NBPF15 | - | - | - | - | 1 | Loss | - |
NBPF20 | - | - | - | - | 1 | Loss | - |
NCAPD2 | - | - | - | - | 3 | Gain | - |
NCBP2 | p.R91C | Missense | SNP | 0.491 | 2 | - | - |
NCKAP1L | - | - | - | - | 3 | Gain | - |
NCKAP5L | - | - | - | - | 3 | Gain | - |
NCOR1 | p.A317S | Missense | SNP | 0.412 | 2 | - | - |
NCOR2 | - | - | - | - | 3 | Gain | - |
NDUFA12 | - | - | - | - | 3 | Gain | - |
NDUFA4 | - | - | - | - | 3 | Gain | - |
NDUFA4L2 | - | - | - | - | 3 | Gain | - |
NDUFA9 | - | - | - | - | 3 | Gain | - |
NEB | p.R8481* | Nonsense | SNP | 0.490 | 2 | - | - |
NECAP1 | - | - | - | - | 3 | Gain | - |
NEDD1 | - | - | - | - | 3 | Gain | - |
NEFM | p.R204H | Missense | SNP | 0.470 | 2 | - | - |
NEIL2 | p.Q284* | Nonsense | SNP | 0.484 | 2 | - | - |
NEK4 | p.L56I | Missense | SNP | 0.479 | 2 | - | - |
NELL2 | - | - | - | - | 3 | Gain | - |
NEMP1 | - | - | - | - | 3 | Gain | - |
NEUROD4 | - | - | - | - | 3 | Gain | - |
NFE2 | - | - | - | - | 3 | Gain | - |
NFYB | - | - | - | - | 3 | Gain | - |
NHS | p.R137W | Missense | SNP | 0.385 | ND | ND | - |
NID1 | p.C414R | Missense | SNP | 0.484 | 2 | - | - |
NINJ2 | p.A23T | Missense | SNP | 0.611 | 3 | Gain | - |
NIPBL | p.R834* p.M2398T | Nonsense Missense | SNP SNP | 0.461 0.492 | 2 | - | - |
NKIRAS2 | p.G45S | Missense | SNP | 0.564 | 2 | - | - |
NKX2-3 | p.A294V | Missense | SNP | 0.488 | 2 | - | - |
NKX2-6 | p.V137M | Missense | SNP | 0.466 | 2 | - | - |
NLGN3 | p.M457V | Missense | SNP | 0.303 | ND | ND | - |
NLRC5 | p.L28P p.A728T p.D1782V | Missense Missense Missense | SNP SNP SNP | 0.580 0.456 0.448 | 2 | - | - |
NLRP4 | p.Q533K | Missense | SNP | 0.528 | 2 | - | - |
NOC4L | - | - | - | - | 3 | Gain | - |
NOG | p.R182C | Missense | SNP | 0.474 | 2 | - | - |
NOL4 | p.L585M | Missense | SNP | 0.487 | 2 | - | - |
NOMO1 | - | - | - | - | 2 | - | NOMO1--RNA5-8SN2 |
NOP2 | - | - | - | - | 3 | Gain | - |
NOP56 | p.P506H | Missense | SNP | 0.492 | 2 | - | - |
NOS1 | - | - | - | - | 3 | Gain | - |
NOTCH4 | p.T1083A | Missense | SNP | 0.533 | 2 | - | - |
NOVA1 | - | - | - | - | 3 | Gain | - |
NPAP1 | p.A561T | Missense | SNP | 0.540 | 2 | - | - |
NPAS4 | p.V167M | Missense | SNP | 0.485 | 2 | - | - |
NPFF | - | - | - | - | 3 | Gain | - |
NPW | p.E122* | Nonsense | SNP | 0.583 | 2 | - | - |
NR1H3 | p.R160L | Missense | SNP | 0.483 | 2 | - | - |
NR1H4 | - | - | - | - | 3 | Gain | - |
NR2C1 | - | - | - | - | 3 | Gain | - |
NR4A1 | - | - | - | - | 3 | Gain | - |
NRIP2 | - | - | - | - | 3 | Gain | - |
NSUN2 | p.P504H | Missense | SNP | 0.462 | 2 | - | - |
NSUN6 | p.G328E | Missense | SNP | 0.569 | 2 | - | - |
NT5DC3 | - | - | - | - | 3 | Gain | - |
NTF3 | - | - | - | - | 3 | Gain | - |
NTN4 | - | - | - | - | 3 | Gain | - |
NTS | - | - | - | - | 3 | Gain | - |
NUAK1 | - | - | - | - | 3 | Gain | - |
NUDT11 | p.R40W | Missense | SNP | 0.341 | ND | ND | - |
NUDT4 | - | - | - | - | 3 | Gain | - |
NUP107 | - | - | - | - | 3 | Gain | - |
NUP210 | p.R1871H | Missense | SNP | 0.486 | 2 | - | - |
NUP37 | - | - | - | - | 3 | Gain | - |
NXPH1 | - | - | - | - | 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 | 0.474 0.494 0.502 | 2 | - | - |
OGDHL | p.A400T | Missense | SNP | 0.476 | 2 | - | - |
OGFOD2 | - | - | - | - | 3 | Gain | - |
OLR1 | - | - | - | - | 3 | Gain | - |
OR10A7 | - | - | - | - | 3 | Gain | - |
OR10AD1 | - | - | - | - | 3 | Gain | - |
OR10P1 | - | - | - | - | 3 | Gain | - |
OR1M1 | p.L82R | Missense | SNP | 0.452 | 2 | - | - |
OR2A1 | - | - | - | - | 1 | Loss | - |
OR2AP1 | - | - | - | - | 3 | Gain | - |
OR51F1 | p.Y261H | Missense | SNP | 0.467 | 2 | - | - |
OR52B4 | p.L84S | Missense | SNP | 0.549 | 2 | - | - |
OR52E8 | p.H111R | Missense | SNP | 0.468 | 2 | - | - |
OR5BS1P | - | - | - | - | 3 | Gain | - |
OR5L1 | p.D89V | Missense | SNP | 0.531 | 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 | 0.518 | 2 | - | - |
OTOGL | - | - | - | - | 3 | Gain | - |
OTUD7A | p.R672Q | Missense | SNP | 0.470 | 2 | - | - |
OVCH1 | - | - | - | - | 3 | Gain | - |
OVOS2 | p.Y1125H | Missense | SNP | 0.627 | ND | ND | - |
P2RX2 | - | - | - | - | 3 | Gain | - |
P2RX4 | - | - | - | - | 3 | Gain | - |
P2RX7 | - | - | - | - | 3 | Gain | - |
P3H2 | p.S550T | Missense | SNP | 0.472 | 2 | - | - |
P3H3 | - | - | - | - | 3 | Gain | - |
PA2G4 | - | - | - | - | 3 | Gain | - |
PAH | - | - | - | - | 3 | Gain | - |
PAN2 | - | - | - | - | 3 | Gain | - |
PANX2 | p.R427C | Missense | SNP | 1.000 | 2 | - | - |
PAPD5 | p.A107T | Missense | SNP | 0.500 | ND | ND | - |
PARP11 | - | - | - | - | 3 | Gain | - |
PARPBP | - | - | - | - | 3 | Gain | - |
PAWR | - | - | - | - | 3 | Gain | - |
PAX6 | p.L336I | Missense | SNP | 0.543 | 2 | - | - |
PCBP2 | - | - | - | - | 3 | Gain | - |
PCDH10 | p.R970H | Missense | SNP | 0.393 | 2 | - | - |
PCDH17 | - | - | - | - | 3 | Gain | - |
PCDH7 | p.R197C | Missense | SNP | 0.606 | 2 | - | - |
PCDH9 | - | - | - | - | 3 | Gain | - |
PCDHA10 | p.S679L | Missense | SNP | 0.458 | 2 | - | - |
PCDHA11 | p.V507M | Missense | SNP | 0.556 | 2 | - | - |
PCDHA7 | p.V740E | Missense | SNP | 0.530 | 2 | - | - |
PCDHGA11 | p.A697V | Missense | SNP | 0.481 | 2 | - | - |
PCDHGA2 | p.R32H | Missense | SNP | 0.496 | 2 | - | - |
PCED1B | - | - | - | - | 3 | Gain | - |
PCSK1 | p.R669Q | Missense | SNP | 0.444 | 2 | - | - |
PCTP | p.L44R | Missense | SNP | 0.534 | 2 | - | - |
PDE1B | - | - | - | - | 3 | Gain | - |
PDE3A | - | - | - | - | 3 | Gain | - |
PDE6H | - | - | - | - | 3 | Gain | - |
PDZD4 | p.L373M | Missense | SNP | 0.340 | ND | ND | - |
PDZD8 | p.R772C | Missense | SNP | 0.467 | 2 | - | - |
PDZRN4 | p.Q177P | Missense | SNP | 0.614 | 3 | Gain | - |
PEBP1 | - | - | - | - | 3 | Gain | - |
PEG3 | p.D560V p.D142N | Missense Missense | SNP SNP | 0.515 0.465 | 2 | - | - |
PELP1 | p.L416R | Missense | SNP | 0.476 | 2 | - | - |
PEX5 | - | - | - | - | 3 | Gain | - |
PFDN5 | - | - | - | - | 3 | Gain | - |
PFKM | - | - | - | - | 3 | Gain | - |
PGAM5 | - | - | - | - | 3 | Gain | - |
PHACTR2 | p.E68* | Nonsense | SNP | 0.438 | 2 | - | - |
PHB2 | - | - | - | - | 3 | Gain | - |
PHC1 | - | - | - | - | 3 | Gain | - |
PHETA1 | - | - | - | - | 3 | Gain | - |
PHF14 | - | - | - | - | 3 | Gain | - |
PHF3 | p.R142Q | Missense | SNP | 0.460 | 2 | - | - |
PHF8 | p.A946T p.R676W | Missense Missense | SNP SNP | 0.279 0.234 | ND | ND | - |
PHIP | p.V732A | Missense | SNP | 0.500 | 2 | - | - |
PHKA2 | p.X1113_splice | Splice_Site | SNP | 0.325 | ND | ND | - |
PHLDA1 | - | - | - | - | 3 | Gain | - |
PIANP | - | - | - | - | 3 | Gain | - |
PIEZO1 | p.W1403* | Nonsense | SNP | 0.522 | 2 | - | - |
PIGG | p.R465G | Missense | SNP | 0.498 | 2 | - | - |
PIGH | p.C151R | Missense | SNP | 0.514 | 2 | - | - |
PIGZ | p.T542I | Missense | SNP | 0.539 | 2 | - | - |
PIK3C2G | - | - | - | - | 3 | Gain | - |
PIP4K2C | - | - | - | - | 3 | Gain | - |
PITPNM2 | - | - | - | - | 3 | Gain | - |
PITX1 | p.L104P | Missense | SNP | 0.423 | 2 | - | - |
PIWIL1 | - | - | - | - | 3 | Gain | - |
PJA1 | p.T50M | Missense | SNP | 0.328 | ND | ND | - |
PKHD1 | p.R3482H | Missense | SNP | 0.466 | 2 | - | - |
PKP2 | - | - | - | - | 3 | Gain | - |
PLA2G1B | - | - | - | - | 3 | Gain | - |
PLA2G4A | - | - | - | - | 3 | Gain | - |
PLBD1 | - | - | - | - | 3 | Gain | - |
PLBD2 | - | - | - | - | 3 | Gain | - |
PLCL2 | p.L172P | Missense | SNP | 0.484 | 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 | 0.260 | ND | ND | - |
PLXNC1 | - | - | - | - | 3 | Gain | - |
PMCH | - | - | - | - | 3 | Gain | - |
PMEL | - | - | - | - | 3 | Gain | - |
PML | p.C754Y | Missense | SNP | 0.419 | 2 | - | - |
PMP22 | p.L62M | Missense | SNP | 0.642 | 2 | - | - |
PNPLA7 | p.R60G | Missense | SNP | 0.543 | 2 | - | - |
POC1A | p.V169A | Missense | SNP | 0.500 | 2 | - | - |
POC1B | - | - | - | - | 3 | Gain | - |
POC1B-GALNT4 | - | - | - | - | 3 | Gain | - |
POLD2 | p.S479I | Missense | SNP | 0.580 | 2 | - | - |
POLE | - | - | - | - | 3 | Gain | - |
POLR1B | p.R1080W | Missense | SNP | 0.442 | 2 | - | - |
POLR2A | p.X919_splice | Splice_Site | SNP | 0.479 | 2 | - | - |
POLR3B | - | - | - | - | 3 | Gain | - |
POP5 | - | - | - | - | 3 | Gain | - |
POTEC | p.L57F | Missense | SNP | 0.500 | 2 | - | - |
POTEE | p.T860S | Missense | SNP | 0.370 | ND | ND | - |
POU5F1B | p.P14H | Missense | SNP | 0.481 | 2 | - | - |
POU6F1 | - | - | - | - | 3 | Gain | - |
PPARGC1B | p.A397V | Missense | SNP | 0.392 | 2 | - | - |
PPFIA2 | - | - | - | - | 3 | Gain | - |
PPFIA3 | p.R539Q | Missense | SNP | 0.460 | 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 | 0.479 | 2 | - | - |
PRDM13 | p.A369V | Missense | SNP | 0.592 | 2 | - | - |
PRDM16 | p.A1063T | Missense | SNP | 0.463 | 2 | - | - |
PRDM4 | - | - | - | - | 3 | Gain | - |
PREX2 | p.A1036V | Missense | SNP | 0.474 | 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 | 0.500 | 2 | - | - |
PRKCQ | p.R146W | Missense | SNP | 0.451 | 2 | - | - |
PRKDC | p.V323A | Missense | SNP | 0.475 | 2 | - | - |
PRMT8 | - | - | - | - | 3 | Gain | - |
PRPF40B | - | - | - | - | 3 | Gain | - |
PRPF8 | p.X1874_splice p.E534* | Splice_Site Nonsense | SNP SNP | 0.539 0.459 | 2 | - | - |
PRPH | - | - | - | - | 3 | Gain | - |
PRR13 | - | - | - | - | 3 | Gain | - |
PRR4 | - | - | - | - | 3 | Gain | - |
PRRC2B | p.R262* | Nonsense | SNP | 0.462 | 2 | - | - |
PSMA3 | p.D252G | Missense | SNP | 0.565 | 2 | - | - |
PSMD9 | - | - | - | - | 3 | Gain | - |
PTCHD4 | p.R744Q | Missense | SNP | 0.542 | 2 | - | - |
PTEN | p.G251V | Missense | SNP | 0.480 | 2 | - | - |
PTGDR | p.T12A | Missense | SNP | 0.385 | 2 | - | - |
PTGES3 | - | - | - | - | 3 | Gain | - |
PTH2 | p.P38R | Missense | SNP | 0.508 | 2 | - | - |
PTHLH | - | - | - | - | 3 | Gain | - |
PTMS | - | - | - | - | 3 | Gain | - |
PTPN11 | - | - | - | - | 3 | Gain | - |
PTPN6 | - | - | - | - | 3 | Gain | - |
PTPRB | - | - | - | - | 3 | Gain | - |
PTPRN | p.K934T | Missense | SNP | 0.430 | 2 | - | - |
PTPRO | - | - | - | - | 3 | Gain | - |
PTPRQ | - | - | - | - | 3 | Gain | - |
PTPRR | - | - | - | - | 3 | Gain | - |
PTPRU | p.P698H | Missense | SNP | 0.434 | 2 | - | - |
PTTG1IP | p.E133G | Missense | SNP | 0.486 | 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 | 0.275 | 3 | Gain | - |
R3HDM2 | - | - | - | - | 3 | Gain | - |
RAB21 | - | - | - | - | 3 | Gain | - |
RAB35 | - | - | - | - | 3 | Gain | - |
RAB3IP | - | - | - | - | 3 | Gain | - |
RAB5B | - | - | - | - | 3 | Gain | - |
RACGAP1 | - | - | - | - | 3 | Gain | - |
RAD51AP1 | - | - | - | - | 3 | Gain | - |
RAD52 | - | - | - | - | 3 | Gain | - |
RAD9B | - | - | - | - | 3 | Gain | - |
RAN | - | - | - | - | 3 | Gain | - |
RAP1B | - | - | - | - | 3 | Gain | - |
RAP1GAP | p.A540T | Missense | SNP | 0.551 | 2 | - | - |
RAPGEF3 | - | - | - | - | 3 | Gain | - |
RARG | - | - | - | - | 3 | Gain | - |
RASAL1 | - | - | - | - | 3 | Gain | - |
RASSF3 | - | - | - | - | 3 | Gain | - |
RASSF8 | - | - | - | - | 3 | Gain | - |
RASSF9 | - | - | - | - | 3 | Gain | - |
RBFOX3 | p.I309V | Missense | SNP | 0.407 | 2 | - | - |
RBM19 | - | - | - | - | 3 | Gain | - |
RBM5 | p.G447D | Missense | SNP | 0.488 | 2 | - | - |
RBMS2 | - | - | - | - | 3 | Gain | - |
RBP5 | - | - | - | - | 3 | Gain | - |
RDH16 | - | - | - | - | 3 | Gain | - |
RDH5 | - | - | - | - | 3 | Gain | - |
RECQL | - | - | - | - | 3 | Gain | - |
RELA | p.Y349C | Missense | SNP | 0.452 | 2 | - | - |
RELN | p.T1919I p.K329* | Missense Nonsense | SNP SNP | 0.518 0.533 | 2 | - | - |
REP15 | - | - | - | - | 3 | Gain | - |
RERG | - | - | - | - | 3 | Gain | - |
RERGL | - | - | - | - | 3 | Gain | - |
RFC5 | - | - | - | - | 3 | Gain | - |
RFLNA | - | - | - | - | 3 | Gain | - |
RFTN1 | p.E230D | Missense | SNP | 0.532 | 2 | - | - |
RFX4 | - | - | - | - | 3 | Gain | - |
RFX7 | p.Q820R | Missense | SNP | 0.572 | 2 | - | - |
RGPD1 | - | - | - | - | 0 | Del | - |
RGPD2 | - | - | - | - | 0 | Del | - |
RGS1 | - | - | - | - | 3 | Gain | - |
RGS18 | - | - | - | - | 3 | Gain | - |
RGS21 | - | - | - | - | 3 | Gain | - |
RHEBL1 | - | - | - | - | 3 | Gain | - |
RHNO1 | - | - | - | - | 3 | Gain | - |
RHO | p.Y10C | Missense | SNP | 0.528 | 2 | - | - |
RHOBTB1 | p.Y185S | Missense | SNP | 0.557 | 2 | - | - |
RHOF | - | - | - | - | 3 | Gain | - |
RIC8B | - | - | - | - | 3 | Gain | - |
RILPL1 | - | - | - | - | 3 | Gain | - |
RILPL2 | - | - | - | - | 3 | Gain | - |
RIMBP2 | p.Y212S | Missense | SNP | 0.280 | 3 | Gain | - |
RIMKLB | - | - | - | - | 3 | Gain | - |
RIOK1 | p.G88* | Nonsense | SNP | 0.517 | 2 | - | - |
RITA1 | - | - | - | - | 3 | Gain | - |
RNA5-8SN2 | - | - | - | - | ND | ND | NOMO1--RNA5-8SN2 STT3A--RNA5-8SN2 SIPA1L2--RNA5-8SN2 |
RND1 | - | - | - | - | 3 | Gain | - |
RNF10 | - | - | - | - | 3 | Gain | - |
RNF123 | p.A477V | Missense | SNP | 0.542 | 2 | - | - |
RNF17 | p.H686R | Missense | SNP | 0.542 | 2 | - | - |
RNF181 | p.P93L | Missense | SNP | 0.609 | 2 | - | - |
RNF34 | - | - | - | - | 3 | Gain | - |
RNF41 | - | - | - | - | 3 | Gain | - |
RNFT2 | - | - | - | - | 3 | Gain | - |
RPAP2 | p.R504L | Missense | SNP | 0.568 | 2 | - | - |
RPAP3 | - | - | - | - | 3 | Gain | - |
RPH3A | - | - | - | - | 3 | Gain | - |
RPL10 | p.R21C | Missense | SNP | 0.342 | ND | ND | - |
RPL41 | - | - | - | - | 3 | Gain | - |
RPL6 | - | - | - | - | 3 | Gain | - |
RPLP0 | - | - | - | - | 3 | Gain | - |
RPS26 | - | - | - | - | 3 | Gain | - |
RSRC2 | - | - | - | - | 3 | Gain | - |
RTFDC1 | p.V211M | Missense | SNP | 0.564 | ND | ND | - |
RWDD3 | p.G253V | Missense | SNP | 0.540 | 2 | - | - |
RXYLT1 | - | - | - | - | 3 | Gain | - |
RYR2 | p.T4072M | Missense | SNP | 0.475 | 2 | - | - |
RYR3 | p.R4043H | Missense | SNP | 0.471 | 2 | - | - |
S1PR5 | p.R111W | Missense | SNP | 0.508 | 2 | - | - |
SAFB | p.R718W | Missense | SNP | 0.436 | 2 | - | - |
SAMD7 | p.N163K | Missense | SNP | 0.489 | 2 | - | - |
SAP130 | p.C986L | Missense | DNP | 0.420 | 2 | - | - |
SARNP | - | - | - | - | 3 | Gain | - |
SART3 | - | - | - | - | 3 | Gain | - |
SAV1 | p.R242* | Nonsense | SNP | 0.408 | 2 | - | - |
SBK1 | p.T248A | Missense | SNP | 0.418 | 2 | - | - |
SBK2 | p.R327H | Missense | SNP | 0.536 | 2 | - | - |
SBNO1 | - | - | - | - | 3 | Gain | - |
SCAF11 | - | - | - | - | 3 | Gain | - |
SCAPER | p.R590* | Nonsense | SNP | 0.457 | 2 | - | - |
SCARA5 | p.A304T | Missense | SNP | 0.478 | 2 | - | - |
SCARB1 | - | - | - | - | 3 | Gain | - |
SCART1 | - | - | - | - | 3 | Gain | - |
SCN7A | p.S530M | Missense | DNP | 0.298 | 2 | - | - |
SCN8A | - | - | - | - | 3 | Gain | - |
SCNN1A | - | - | - | - | 3 | Gain | - |
SCUBE3 | p.L477R | Missense | SNP | 0.470 | 2 | - | - |
SCYL2 | - | - | - | - | 3 | Gain | - |
SDR9C7 | - | - | - | - | 3 | Gain | - |
SDS | - | - | - | - | 3 | Gain | - |
SDSL | - | - | - | - | 3 | Gain | - |
SELPLG | - | - | - | - | 3 | Gain | - |
SEMA3D | p.R113W | Missense | SNP | 0.488 | 2 | - | - |
SEMA6A | p.Y472C | Missense | SNP | 0.482 | 2 | - | - |
SEMA7A | p.R261H | Missense | SNP | 0.524 | 2 | - | - |
SENP1 | - | - | - | - | 3 | Gain | - |
SENP7 | p.K582N | Missense | SNP | 0.466 | 2 | - | - |
SETD1B | - | - | - | - | 3 | Gain | - |
SFSWAP | - | - | - | - | 3 | Gain | - |
SH2B3 | - | - | - | - | 3 | Gain | - |
SH2D4A | p.R247C | Missense | SNP | 0.453 | 2 | - | - |
SH3GL1 | p.A125V | Missense | SNP | 0.534 | 2 | - | - |
SH3TC2 | p.R641H | Missense | SNP | 0.447 | 2 | - | - |
SHANK1 | p.V1207M | Missense | SNP | 0.548 | 2 | - | - |
SHMT2 | - | - | - | - | 3 | Gain | - |
SIM1 | p.X248_splice | Splice_Site | SNP | 0.394 | 2 | - | - |
SINHCAF | - | - | - | - | 3 | Gain | - |
SIPA1L2 | p.E1180K | Missense | SNP | 0.451 | 2 | - | SIPA1L2--RNA5-8SN2 |
SIRT1 | p.R384* | Nonsense | SNP | 0.512 | 2 | - | - |
SIRT2 | p.R381G | Missense | SNP | 0.459 | 2 | - | - |
SIRT4 | - | - | - | - | 3 | Gain | - |
SLC11A2 | - | - | - | - | 3 | Gain | - |
SLC15A4 | - | - | - | - | 3 | Gain | - |
SLC15A5 | - | - | - | - | 3 | Gain | - |
SLC16A7 | - | - | - | - | 3 | Gain | - |
SLC17A8 | - | - | - | - | 3 | Gain | - |
SLC22A11 | p.S332L | Missense | SNP | 0.571 | 2 | - | - |
SLC22A18 | p.R89W | Missense | SNP | 0.527 | 2 | - | - |
SLC25A3 | - | - | - | - | 3 | Gain | - |
SLC26A10 | - | - | - | - | 3 | Gain | - |
SLC27A6 | p.Q544* | Nonsense | SNP | 0.244 | 2 | - | - |
SLC2A13 | - | - | - | - | 3 | Gain | - |
SLC2A14 | - | - | - | - | 3 | Gain | - |
SLC2A3 | - | - | - | - | 3 | Gain | - |
SLC2A8 | p.R215C | Missense | SNP | 0.469 | 2 | - | - |
SLC34A2 | p.C622R | Missense | SNP | 0.521 | 2 | - | - |
SLC35A5 | p.A375T | Missense | SNP | 0.545 | 2 | - | - |
SLC35E3 | - | - | - | - | 3 | Gain | - |
SLC38A1 | - | - | - | - | 3 | Gain | - |
SLC38A2 | - | - | - | - | 3 | Gain | - |
SLC38A3 | p.L178P | Missense | SNP | 0.538 | 2 | - | - |
SLC38A4 | - | - | - | - | 3 | Gain | - |
SLC39A5 | - | - | - | - | 3 | Gain | - |
SLC3A1 | p.G376S | Missense | SNP | 0.524 | 2 | - | - |
SLC41A2 | - | - | - | - | 3 | Gain | - |
SLC48A1 | - | - | - | - | 3 | Gain | - |
SLC4A10 | p.R63* | Nonsense | SNP | 0.455 | 2 | - | - |
SLC4A8 | - | - | - | - | 3 | Gain | - |
SLC5A11 | p.A383V | Missense | SNP | 0.456 | 2 | - | - |
SLC5A5 | p.F247L | Missense | SNP | 0.475 | 2 | - | - |
SLC5A8 | - | - | - | - | 3 | Gain | - |
SLC6A12 | - | - | - | - | 3 | Gain | - |
SLC6A13 | - | - | - | - | 3 | Gain | - |
SLC6A15 | - | - | - | - | 3 | Gain | - |
SLC6A5 | p.S168Y | Missense | SNP | 0.474 | 2 | - | - |
SLC6A6 | p.R278C | Missense | SNP | 0.484 | 2 | - | - |
SLC7A4 | p.G187* p.R135H | Nonsense Missense | SNP SNP | 0.996 1.000 | 2 | - | - |
SLC7A8 | p.W182* | Nonsense | SNP | 0.529 | 2 | - | - |
SLC8A3 | p.K601R | Missense | SNP | 0.583 | 2 | - | - |
SLC8B1 | - | - | - | - | 3 | Gain | - |
SLCO1A2 | - | - | - | - | 3 | Gain | - |
SLCO1B1 | - | - | - | - | 3 | Gain | - |
SLCO1B3 | - | - | - | - | 3 | Gain | - |
SLCO1B7 | - | - | - | - | 3 | Gain | - |
SLCO1C1 | - | - | - | - | 3 | Gain | - |
SLITRK1 | - | - | - | - | 3 | Gain | - |
SLITRK5 | p.D161N | Missense | SNP | 0.518 | 3 | Gain | - |
SLITRK6 | - | - | - | - | 3 | Gain | - |
SMAD3 | p.H85R | Missense | SNP | 0.522 | 2 | - | - |
SMAGP | - | - | - | - | 3 | Gain | - |
SMARCA4 | p.R842W | Missense | SNP | 0.494 | 3 | Gain | - |
SMARCC2 | - | - | - | - | 3 | Gain | - |
SMARCD1 | - | - | - | - | 3 | Gain | - |
SMC3 | p.R186W | Missense | SNP | 0.556 | 2 | - | - |
SMCO2 | p.P331S | Missense | SNP | 0.646 | 3 | Gain | - |
SMCO3 | - | - | - | - | 3 | Gain | - |
SMUG1 | - | - | - | - | 3 | Gain | - |
SNRNP35 | - | - | - | - | 3 | Gain | - |
SNRPF | - | - | - | - | 3 | Gain | - |
SNTB1 | p.R241W | Missense | SNP | 0.422 | 2 | - | - |
SNX13 | p.Q160H | Missense | SNP | 0.645 | 2 | - | - |
SOAT2 | - | - | - | - | 3 | Gain | - |
SOCS2 | - | - | - | - | 3 | Gain | - |
SOCS5 | p.R263M | Missense | SNP | 0.416 | 2 | - | - |
SOGA3 | p.R206M | Missense | SNP | 0.456 | 2 | - | - |
SON | p.V1558I | Missense | SNP | 0.471 | 2 | - | - |
SOX21 | p.A218T | Missense | SNP | 0.651 | 2 | - | - |
SOX3 | p.I26M | Missense | SNP | 0.331 | ND | ND | - |
SOX5 | - | - | - | - | 3 | Gain | - |
SP1 | - | - | - | - | 3 | Gain | - |
SP140 | p.G549W | Missense | SNP | 0.454 | 2 | - | - |
SP7 | - | - | - | - | 3 | Gain | - |
SPATS2 | - | - | - | - | 3 | Gain | - |
SPC24 | - | - | - | - | 3 | Gain | - |
SPG11 | p.S464P | Missense | SNP | 0.498 | 2 | - | - |
SPIC | - | - | - | - | 3 | Gain | - |
SPPL3 | - | - | - | - | 3 | Gain | - |
SPRYD3 | - | - | - | - | 3 | Gain | - |
SPRYD4 | - | - | - | - | 3 | Gain | - |
SPSB2 | - | - | - | - | 3 | Gain | - |
SPTBN4 | p.A1686V | Missense | SNP | 0.582 | 2 | - | - |
SPX | - | - | - | - | 3 | Gain | - |
SRCAP | p.Q3205R | Missense | SNP | 0.543 | 2 | - | - |
SRGAP1 | - | - | - | - | 3 | Gain | - |
SRGAP2B | - | - | - | - | 1 | Loss | - |
SRPK3 | p.E501A | Missense | SNP | 0.440 | ND | ND | - |
SRRM4 | - | - | - | - | 3 | Gain | - |
SRSF9 | - | - | - | - | 3 | Gain | - |
SS18 | p.I16N | Missense | SNP | 0.459 | 2 | - | - |
SSH1 | - | - | - | - | 3 | Gain | - |
SSH2 | p.A1410T | Missense | SNP | 0.462 | 2 | - | - |
SSPN | - | - | - | - | 3 | Gain | - |
ST8SIA1 | - | - | - | - | 3 | Gain | - |
STAB2 | - | - | - | - | 3 | Gain | - |
STAC3 | - | - | - | - | 3 | Gain | - |
STAT2 | - | - | - | - | 3 | Gain | - |
STAT4 | p.I105V | Missense | SNP | 0.488 | 2 | - | - |
STAT6 | - | - | - | - | 3 | Gain | - |
STK38L | - | - | - | - | 3 | Gain | - |
STRAP | - | - | - | - | 3 | Gain | - |
STRN4 | p.D519Y p.D419N | Missense Missense | SNP SNP | 0.500 0.559 | 2 | - | - |
STT3A | - | - | - | - | 2 | - | STT3A--RNA5-8SN2 |
STX2 | - | - | - | - | 3 | Gain | - |
STYK1 | - | - | - | - | 3 | Gain | - |
SUDS3 | - | - | - | - | 3 | Gain | - |
SUOX | - | - | - | - | 3 | Gain | - |
SURF6 | p.E286K | Missense | SNP | 0.497 | 2 | - | - |
SVOP | - | - | - | - | 3 | Gain | - |
SYCE1 | - | - | - | - | 3 | Gain | - |
SYCP3 | - | - | - | - | 3 | Gain | - |
SYT1 | - | - | - | - | 3 | Gain | - |
SYT10 | - | - | - | - | 3 | Gain | - |
TAC3 | - | - | - | - | 3 | Gain | - |
TAGAP | p.R412H | Missense | SNP | 0.483 | 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 | 0.493 | 2 | - | - |
TBC1D15 | - | - | - | - | 3 | Gain | - |
TBC1D22B | p.A487V | Missense | SNP | 0.420 | 2 | - | - |
TBC1D30 | - | - | - | - | 3 | Gain | - |
TBK1 | - | - | - | - | 3 | Gain | - |
TBX3 | - | - | - | - | 3 | Gain | - |
TBX4 | p.V55A | Missense | SNP | 0.300 | 2 | - | - |
TBX5 | - | - | - | - | 3 | Gain | - |
TBXA2R | p.R53W | Missense | SNP | 0.512 | 2 | - | - |
TCF25 | p.W675G | Missense | SNP | 0.479 | 2 | - | - |
TCHP | - | - | - | - | 3 | Gain | - |
TCP11L2 | - | - | - | - | 3 | Gain | - |
TCTN1 | - | - | - | - | 3 | Gain | - |
TCTN2 | - | - | - | - | 3 | Gain | - |
TDG | - | - | - | - | 3 | Gain | - |
TDO2 | p.E24K | Missense | SNP | 0.466 | 2 | - | - |
TEAD4 | - | - | - | - | 3 | Gain | - |
TESC | - | - | - | - | 3 | Gain | - |
TESPA1 | - | - | - | - | 3 | Gain | - |
TEX13C | p.M421I | Missense | SNP | 0.304 | ND | ND | - |
TEX49 | - | - | - | - | 3 | Gain | - |
TEX52 | - | - | - | - | 3 | Gain | - |
TFAP2B | p.S45L | Missense | SNP | 0.449 | 2 | - | - |
TFCP2 | - | - | - | - | 3 | Gain | - |
TFEB | p.R329C | Missense | SNP | 0.524 | 2 | - | - |
TGFBR1 | p.X467_splice | Splice_Site | SNP | 0.431 | 2 | - | - |
THAP2 | - | - | - | - | 3 | Gain | - |
TIGAR | - | - | - | - | 3 | Gain | - |
TIMELESS | - | - | - | - | 3 | Gain | - |
TJP2 | p.E329K | Missense | SNP | 0.538 | 2 | - | - |
TLE4 | p.S629I | Missense | SNP | 0.472 | 2 | - | - |
TM7SF3 | - | - | - | - | 3 | Gain | - |
TMBIM4 | - | - | - | - | 3 | Gain | - |
TMBIM6 | - | - | - | - | 3 | Gain | - |
TMCC3 | - | - | - | - | 3 | Gain | - |
TMED2 | - | - | - | - | 3 | Gain | - |
TMEM101 | p.S20L | Missense | SNP | 0.507 | 2 | - | - |
TMEM102 | p.D59E | Missense | SNP | 0.468 | 2 | - | - |
TMEM106C | - | - | - | - | 3 | Gain | - |
TMEM116 | - | - | - | - | 3 | Gain | - |
TMEM117 | - | - | - | - | 3 | Gain | - |
TMEM119 | - | - | - | - | 3 | Gain | - |
TMEM120B | - | - | - | - | 3 | Gain | - |
TMEM131 | p.A449V | Missense | SNP | 0.538 | 2 | - | - |
TMEM132B | - | - | - | - | 3 | Gain | - |
TMEM132C | - | - | - | - | 3 | Gain | - |
TMEM132D | - | - | - | - | 3 | Gain | - |
TMEM143 | p.L249P | Missense | SNP | 0.500 | 2 | - | - |
TMEM184A | p.L50I | Missense | SNP | 0.488 | 2 | - | - |
TMEM19 | - | - | - | - | 3 | Gain | - |
TMEM233 | - | - | - | - | 3 | Gain | - |
TMEM255B | p.S25L | Missense | SNP | 0.456 | 2 | - | - |
TMEM263 | - | - | - | - | 3 | Gain | - |
TMEM52B | - | - | - | - | 3 | Gain | - |
TMIGD2 | p.L156P | Missense | SNP | 0.513 | 2 | - | - |
TMPO | - | - | - | - | 3 | Gain | - |
TMPRSS12 | - | - | - | - | 3 | Gain | - |
TMTC1 | - | - | - | - | 3 | Gain | - |
TMTC2 | - | - | - | - | 3 | Gain | - |
TMTC3 | - | - | - | - | 3 | Gain | - |
TMX3 | p.K194N | Missense | SNP | 0.423 | 2 | - | - |
TNFAIP6 | p.A42T | Missense | SNP | 0.415 | 2 | - | - |
TNFRSF1A | - | - | - | - | 3 | Gain | - |
TNKS | p.R1161W | Missense | SNP | 0.488 | 2 | - | - |
TNPO2 | p.M740I p.V451I | Missense Missense | SNP SNP | 0.477 0.440 | 2 | - | - |
TNRC18 | p.R451C | Missense | SNP | 0.500 | 2 | - | - |
TNRC6B | p.Q1307E | Missense | SNP | 1.000 | 2 | - | - |
TNS2 | p.R37K | Missense | SNP | 0.295 | 3 | Gain | - |
TNS3 | p.G934C | Missense | SNP | 0.466 | 2 | - | - |
TNXB | - | - | - | - | 1 | Loss | - |
TONSL | p.D183H | Missense | SNP | 0.533 | 2 | - | - |
TPCN1 | - | - | - | - | 3 | Gain | - |
TPH2 | - | - | - | - | 3 | Gain | - |
TPI1 | - | - | - | - | 3 | Gain | - |
TRAF7 | p.R71W | Missense | SNP | 0.583 | 2 | - | - |
TRAFD1 | - | - | - | - | 3 | Gain | - |
TRAV8-7 | p.E81D | Missense | SNP | 0.435 | ND | ND | - |
TRHDE | - | - | - | - | 3 | Gain | - |
TRIAP1 | - | - | - | - | 3 | Gain | - |
TRIM10 | p.V383M | Missense | SNP | 0.491 | 2 | - | - |
TRIM50 | p.D431N | Missense | SNP | 0.434 | 2 | - | - |
TROAP | - | - | - | - | 3 | Gain | - |
TRPC3 | p.L252V | Missense | SNP | 0.433 | 2 | - | - |
TRPC5 | p.R512C | Missense | SNP | 0.329 | ND | ND | - |
TRPM3 | p.T1290M | Missense | SNP | 0.549 | 2 | - | - |
TRPM5 | p.L877P | Missense | SNP | 0.464 | 2 | - | - |
TRPV4 | p.E444D | Missense | SNP | 0.269 | 3 | Gain | - |
TSC2 | p.A86V | Missense | SNP | 0.475 | 2 | - | - |
TSFM | - | - | - | - | 3 | Gain | - |
TSPAN11 | - | - | - | - | 3 | Gain | - |
TSPAN19 | - | - | - | - | 3 | Gain | - |
TSPAN31 | - | - | - | - | 3 | Gain | - |
TSPAN8 | - | - | - | - | 3 | Gain | - |
TSPAN9 | - | - | - | - | 3 | Gain | - |
TTC27 | p.L376R | Missense | SNP | 0.482 | 2 | - | - |
TTC28 | p.V1585M | Missense | SNP | 1.000 | 2 | - | - |
TTC6 | p.R64C | Missense | SNP | 0.516 | 2 | - | - |
TTN | p.G30849V p.R1981K | Missense Missense | SNP SNP | 0.496 0.509 | 2 | - | - |
TUBA1A | - | - | - | - | 3 | Gain | - |
TUBA1B | - | - | - | - | 3 | Gain | - |
TUBA1C | - | - | - | - | 3 | Gain | - |
TUBA3C | p.A385T | Missense | SNP | 0.524 | 2 | - | - |
TUBA3D | p.G17S | Missense | SNP | 0.536 | 2 | - | - |
TUBB4A | p.T386M p.L130I | Missense Missense | SNP SNP | 0.582 0.609 | 2 | - | - |
TULP3 | - | - | - | - | 3 | Gain | - |
TWF1 | - | - | - | - | 3 | Gain | - |
TXNRD1 | - | - | - | - | 3 | Gain | - |
TYRP1 | p.G10C | Missense | SNP | 0.489 | 2 | - | - |
U2AF1L4 | p.R174M | Missense | SNP | 0.529 | 2 | - | - |
UBC | - | - | - | - | 3 | Gain | - |
UBE2N | - | - | - | - | 3 | Gain | - |
UBE3B | - | - | - | - | 3 | Gain | - |
UEVLD | p.X165_splice | Splice_Site | SNP | 0.418 | 2 | - | - |
UGT1A8 | p.S141C | Missense | SNP | 0.446 | 2 | - | - |
UHRF1BP1L | - | - | - | - | 3 | Gain | - |
ULK1 | - | - | - | - | 3 | Gain | - |
UMAD1 | - | - | - | - | 3 | Gain | - |
UNC119B | - | - | - | - | 3 | Gain | - |
UNC13C | p.Q1420R | Missense | SNP | 0.525 | 2 | - | - |
UNG | - | - | - | - | 3 | Gain | - |
URB2 | p.A1028T | Missense | SNP | 0.503 | 2 | - | - |
USP15 | - | - | - | - | 3 | Gain | - |
USP19 | p.V498A | Missense | SNP | 0.391 | 2 | - | - |
USP27X | p.G186R | Missense | SNP | 0.604 | ND | ND | - |
USP30 | - | - | - | - | 3 | Gain | - |
USP32 | p.T734A | Missense | SNP | 0.452 | 2 | - | - |
USP44 | - | - | - | - | 3 | Gain | - |
USP5 | - | - | - | - | 3 | Gain | - |
USP9X | p.A1875V | Missense | SNP | 0.326 | ND | ND | - |
UTP20 | - | - | - | - | 3 | Gain | - |
VAMP1 | - | - | - | - | 3 | Gain | - |
VCAM1 | p.T79M | Missense | SNP | 0.480 | 2 | - | - |
VCPIP1 | p.V221L | Missense | SNP | 0.560 | 2 | - | - |
VDR | - | - | - | - | 3 | Gain | - |
VEZT | - | - | - | - | 3 | Gain | - |
VPS13D | p.R3316H | Missense | SNP | 0.473 | 2 | - | - |
VPS29 | - | - | - | - | 3 | Gain | - |
VPS33A | - | - | - | - | 3 | Gain | - |
VPS37B | - | - | - | - | 3 | Gain | - |
VSIG10 | p.S87F | Missense | SNP | 0.337 | 3 | Gain | - |
VSTM2L | p.G23S | Missense | SNP | 0.479 | 2 | - | - |
VWA2 | p.G412D | Missense | SNP | 0.462 | 2 | - | - |
VWF | - | - | - | - | 3 | Gain | - |
WAS | p.G465* | Nonsense | SNP | 0.346 | ND | ND | - |
WASHC3 | - | - | - | - | 3 | Gain | - |
WASHC4 | - | - | - | - | 3 | Gain | - |
WBP11 | - | - | - | - | 3 | Gain | - |
WDFY4 | p.R94S | Missense | SNP | 0.519 | 2 | - | - |
WDR45 | p.R233H | Missense | SNP | 0.329 | ND | ND | - |
WDR66 | - | - | - | - | 3 | Gain | - |
WIF1 | - | - | - | - | 3 | Gain | - |
WNK1 | - | - | - | - | 3 | Gain | - |
WNK3 | p.K1437Q | Missense | SNP | 0.369 | ND | ND | - |
WNT1 | - | - | - | - | 3 | Gain | - |
WNT10B | - | - | - | - | 3 | Gain | - |
WNT5A | p.V147M | Missense | SNP | 0.468 | 2 | - | - |
WNT5B | - | - | - | - | 3 | Gain | - |
WSB2 | - | - | - | - | 3 | Gain | - |
WSCD2 | - | - | - | - | 3 | Gain | - |
XPNPEP2 | p.E639K | Missense | SNP | 0.264 | ND | ND | - |
XPOT | - | - | - | - | 3 | Gain | - |
YAF2 | - | - | - | - | 3 | Gain | - |
YARS2 | - | - | - | - | 3 | Gain | - |
YBX3 | - | - | - | - | 3 | Gain | - |
YEATS4 | - | - | - | - | 3 | Gain | - |
ZBTB20 | p.E728K | Missense | SNP | 0.493 | 2 | - | - |
ZBTB33 | . | Splice_Site | SNP | 0.305 | ND | ND | - |
ZBTB39 | - | - | - | - | 3 | Gain | - |
ZC3H10 | - | - | - | - | 3 | Gain | - |
ZCCHC8 | - | - | - | - | 3 | Gain | - |
ZCRB1 | - | - | - | - | 3 | Gain | - |
ZDHHC17 | - | - | - | - | 3 | Gain | - |
ZDHHC20 | p.F245V | Missense | SNP | 0.448 | 2 | - | - |
ZFC3H1 | - | - | - | - | 3 | Gain | - |
ZFHX4 | p.E2641K p.V2648A | Missense Missense | SNP SNP | 0.466 0.442 | 2 | - | - |
ZHX3 | p.N249K | Missense | SNP | 0.469 | 2 | - | - |
ZMPSTE24 | p.K321N | Missense | SNP | 0.477 | 2 | - | - |
ZMYM2 | p.L1147I | Missense | SNP | 0.489 | 2 | - | - |
ZMYND8 | p.C122Y | Missense | SNP | 0.511 | 2 | - | - |
ZNF10 | - | - | - | - | 3 | Gain | - |
ZNF140 | - | - | - | - | 3 | Gain | - |
ZNF185 | p.A116T | Missense | SNP | 0.349 | ND | ND | - |
ZNF26 | - | - | - | - | 3 | Gain | - |
ZNF268 | - | - | - | - | 3 | Gain | - |
ZNF384 | - | - | - | - | 3 | Gain | - |
ZNF385A | - | - | - | - | 3 | Gain | - |
ZNF467 | p.A447V | Missense | SNP | 0.414 | 2 | - | - |
ZNF469 | p.N617S p.T2559I | Missense Missense | SNP SNP | 0.388 0.597 | 2 | - | - |
ZNF518A | p.E95G | Missense | SNP | 0.453 | 2 | - | - |
ZNF585B | p.G714E | Missense | SNP | 0.538 | 2 | - | - |
ZNF605 | - | - | - | - | 3 | Gain | - |
ZNF641 | - | - | - | - | 3 | Gain | - |
ZNF664 | - | - | - | - | 3 | Gain | - |
ZNF665 | p.A69V | Missense | SNP | 0.468 | 2 | - | - |
ZNF687 | p.L657I | Missense | SNP | 0.342 | 2 | - | - |
ZNF705A | - | - | - | - | 3 | Gain | - |
ZNF711 | p.Q127H | Missense | SNP | 0.654 | ND | ND | - |
ZNF740 | - | - | - | - | 3 | Gain | - |
ZNF746 | p.T131M | Missense | SNP | 0.506 | 2 | - | - |
ZNF804A | p.R770Q | Missense | SNP | 0.463 | 2 | - | - |
ZNF84 | - | - | - | - | 3 | Gain | - |
ZNF891 | - | - | - | - | 3 | Gain | - |
ZNRF3 | p.G96D | Missense | SNP | 1.000 | 2 | - | - |
ZSCAN12 | p.T79I | Missense | SNP | 0.522 | 2 | - | - |
ZWINT | - | - | - | - | 3 | Gain | - |