Variant Type | Calling Status |
---|---|
Mutations | Called |
Copy number | Called |
Fusions | No Data |
Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
---|---|---|---|---|---|---|---|
AARS2 | p.T89A | Missense | SNP | 0.541 | 2 | - | ND |
ABCC4 | p.G1174E | Missense | SNP | 0.497 | 2 | - | ND |
ABHD2 | p.D43A | Missense | SNP | 0.412 | 2 | - | ND |
ACBD5 | p.D281G | Missense | SNP | 0.464 | 2 | - | ND |
ACMSD | p.A154V | Missense | SNP | 0.585 | 2 | - | ND |
ACOT11 | p.N583S | Missense | SNP | 0.413 | 2 | - | ND |
ACSF2 | p.P157T | Missense | SNP | 0.473 | 2 | - | ND |
ADAM22 | p.Q553* | Nonsense | SNP | 0.455 | 2 | - | ND |
ADAMTS16 | p.T702I | Missense | SNP | 0.526 | 2 | - | ND |
ADAMTS6 | p.A526S | Missense | SNP | 0.403 | 2 | - | ND |
ADCK1 | p.T382M | Missense | SNP | 0.512 | 2 | - | ND |
ADCY3 | p.R478H | Missense | SNP | 0.657 | 2 | - | ND |
ADGRB3 | p.G145W p.R1279I | Missense Missense | SNP SNP | 0.405 0.529 | 2 | - | ND |
ADRA1D | p.A69S | Missense | SNP | 0.508 | 2 | - | ND |
ADRB3 | p.R286W | Missense | SNP | 0.518 | 2 | - | ND |
AFAP1L2 | p.R498C | Missense | SNP | 0.497 | 2 | - | ND |
AFG3L2 | p.A411V | Missense | SNP | 0.542 | 2 | - | ND |
AGL | p.I1144M | Missense | SNP | 0.543 | 2 | - | ND |
AGPS | p.M321T | Missense | SNP | 0.431 | 2 | - | ND |
AHNAK | p.L1380P | Missense | SNP | 0.521 | 2 | - | ND |
AHR | p.F594S | Missense | SNP | 0.443 | 2 | - | ND |
AJUBA | p.E497D | Missense | SNP | 0.416 | 2 | - | ND |
AKAP11 | p.N843K p.A1570T | Missense Missense | SNP SNP | 0.511 0.474 | 2 | - | ND |
ALDH4A1 | p.R139C | Missense | SNP | 0.569 | 2 | - | ND |
ALG10 | p.P409H | Missense | SNP | 0.449 | 2 | - | ND |
ALK | p.E427G | Missense | SNP | 0.591 | 2 | - | ND |
ALOX5 | p.L317P | Missense | SNP | 0.558 | 2 | - | ND |
ALPK2 | p.A202V | Missense | SNP | 0.465 | 2 | - | ND |
ALX1 | p.R312* | Nonsense | SNP | 0.509 | 2 | - | ND |
ALX3 | p.A69T | Missense | SNP | 0.296 | 2 | - | ND |
ANK3 | p.R290* | Nonsense | SNP | 0.511 | 2 | - | ND |
ANKRD35 | p.L206P | Missense | SNP | 0.506 | 2 | - | ND |
ANKRD50 | p.I1332M | Missense | SNP | 0.471 | 2 | - | ND |
APCDD1L | p.Y220C | Missense | SNP | 0.454 | 2 | - | ND |
APOH | p.P53S | Missense | SNP | 0.444 | 2 | - | ND |
ARHGAP25 | p.D388Y | Missense | SNP | 0.475 | 2 | - | ND |
ARHGAP31 | p.G1235* | Nonsense | SNP | 0.500 | 2 | - | ND |
ARHGAP9 | p.R342G | Missense | SNP | 0.447 | 2 | - | ND |
ARHGDIG | p.X25_splice | Splice_Site | SNP | 0.636 | 2 | - | ND |
ARHGEF10 | p.G360R | Missense | SNP | 0.566 | 2 | - | ND |
ARHGEF12 | p.P1078S | Missense | SNP | 0.442 | 2 | - | ND |
ARHGEF5 | - | - | - | - | 1 | Loss | ND |
ARL10 | p.P5A | Missense | SNP | 0.524 | 2 | - | ND |
ARMCX3 | p.Y22C p.A183V | Missense Missense | SNP SNP | 0.279 0.371 | ND | ND | ND |
ARX | p.V64M | Missense | SNP | 0.328 | ND | ND | ND |
ASS1 | p.A258T | Missense | SNP | 0.494 | 2 | - | ND |
ASTE1 | p.A467S | Missense | SNP | 0.510 | 2 | - | ND |
ATAD2 | p.G561R | Missense | SNP | 0.513 | 2 | - | ND |
ATAD3A | p.R256H | Missense | SNP | 0.508 | 2 | - | ND |
ATG4B | p.G254C | Missense | SNP | 0.473 | 2 | - | ND |
ATG9B | p.R524H | Missense | SNP | 0.508 | 2 | - | ND |
ATP10A | p.G1328R | Missense | SNP | 0.427 | 2 | - | ND |
ATP10D | p.L839I | Missense | SNP | 0.431 | 2 | - | ND |
ATP11C | p.A468T | Missense | SNP | 0.320 | ND | ND | ND |
ATP8B3 | p.L222P p.P218L | Missense Missense | SNP SNP | 0.432 0.562 | 2 | - | ND |
AURKA | p.H366R | Missense | SNP | 0.517 | 2 | - | ND |
AVPR1B | p.V285G | Missense | SNP | 0.460 | 2 | - | ND |
AXIN2 | p.V539A p.T536M | Missense Missense | SNP SNP | 0.526 0.475 | 2 | - | ND |
B3GAT1 | p.L115I | Missense | SNP | 0.434 | 2 | - | ND |
B4GALT4 | p.R301W | Missense | SNP | 0.529 | 2 | - | ND |
BACE1 | p.R296H | Missense | SNP | 0.420 | 2 | - | ND |
BAHD1 | p.A702V | Missense | SNP | 0.483 | 2 | - | ND |
BANP | p.A153T | Missense | SNP | 0.400 | 2 | - | ND |
BCAR1 | p.R612W p.G267C | Missense Missense | SNP SNP | 0.535 0.556 | 2 | - | ND |
BCAS4 | p.P200T | Missense | SNP | 0.523 | 2 | - | ND |
BEND3 | p.D364G | Missense | SNP | 0.462 | 2 | - | ND |
BFSP2 | p.A407T | Missense | SNP | 0.500 | 2 | - | ND |
BICC1 | p.A3T | Missense | SNP | 0.579 | 2 | - | ND |
BIN3 | p.K113R | Missense | SNP | 0.528 | 2 | - | ND |
BLACE | p.I5S | Missense | SNP | 0.493 | ND | ND | ND |
BRAF | p.V600E | Missense | SNP | 0.507 | 2 | - | ND |
BRINP3 | p.K541T | Missense | SNP | 0.498 | 3 | Gain | ND |
C14orf37 | p.A151V | Missense | SNP | 0.392 | ND | ND | ND |
C1GALT1C1 | p.H37P | Missense | SNP | 0.661 | ND | ND | ND |
C1orf204 | p.A149T | Missense | SNP | 0.365 | ND | ND | ND |
C1orf228 | p.A23T | Missense | SNP | 0.467 | ND | ND | ND |
C2CD4D | p.P184L | Missense | SNP | 0.526 | 2 | - | ND |
C2orf16 | p.L1534H | Missense | SNP | 0.454 | 2 | - | ND |
C4A | - | - | - | - | 1 | Loss | ND |
C4B | - | - | - | - | 1 | Loss | ND |
C8orf48 | p.V114L | Missense | SNP | 0.515 | 2 | - | ND |
CA4 | p.A13V | Missense | SNP | 0.558 | 2 | - | ND |
CACNA1A | p.P2421V | Missense | DNP | 0.430 | 2 | - | ND |
CACNA1B | p.S761L | Missense | SNP | 0.224 | 2 | - | ND |
CAPNS1 | p.F164S | Missense | SNP | 0.481 | 2 | - | ND |
CARNS1 | p.S528N | Missense | SNP | 0.505 | 2 | - | ND |
CATIP | p.F354L | Missense | SNP | 0.424 | 2 | - | ND |
CBLN4 | p.T134P | Missense | SNP | 0.462 | 2 | - | ND |
CCDC102B | p.D477Y | Missense | SNP | 0.377 | 2 | - | ND |
CCDC13 | p.L415P | Missense | SNP | 0.592 | 2 | - | ND |
CCDC27 | p.R76W | Missense | SNP | 0.513 | 2 | - | ND |
CCDC65 | p.X394_splice | Splice_Site | SNP | 0.405 | 2 | - | ND |
CCDC94 | p.E170K | Missense | SNP | 0.505 | ND | ND | ND |
CCNJ | p.S267L | Missense | SNP | 0.474 | 2 | - | ND |
CCNYL1 | p.N180D | Missense | SNP | 0.448 | 2 | - | ND |
CCSER1 | p.L531R | Missense | SNP | 0.584 | 2 | - | ND |
CD101 | p.D772A | Missense | SNP | 0.457 | 2 | - | ND |
CD22 | p.E203* | Nonsense | SNP | 0.505 | 2 | - | ND |
CD53 | p.R165Q | Missense | SNP | 0.516 | 2 | - | ND |
CDC42BPG | p.V304M p.V205A | Missense Missense | SNP SNP | 0.450 0.448 | 2 | - | ND |
CDH4 | p.W113C | Missense | SNP | 0.475 | 2 | - | ND |
CDH5 | p.R621Q | Missense | SNP | 0.441 | 2 | - | ND |
CDK4 | p.R210Q | Missense | SNP | 0.460 | 2 | - | ND |
CDK5 | p.R200W | Missense | SNP | 0.474 | 2 | - | ND |
CDK5R2 | p.G357R | Missense | SNP | 0.479 | 2 | - | ND |
CECR6 | p.G159S | Missense | SNP | 0.429 | ND | ND | ND |
CELF3 | p.X76_splice | Splice_Site | SNP | 0.412 | 2 | - | ND |
CELSR1 | p.R2406* p.R291H | Nonsense Missense | SNP SNP | 0.566 0.538 | 2 | - | ND |
CEMIP | p.G118D | Missense | SNP | 0.438 | 2 | - | ND |
CEP295 | p.L482R | Missense | SNP | 0.438 | 2 | - | ND |
CEP63 | p.W43R | Missense | SNP | 0.542 | 2 | - | ND |
CES2 | p.G88D | Missense | SNP | 0.528 | 2 | - | ND |
CFAP47 | p.D385G | Missense | SNP | 0.410 | ND | ND | ND |
CFAP65 | p.S48R | Missense | SNP | 0.392 | 2 | - | ND |
CFH | p.G486E | Missense | DNP | 0.498 | 2 | - | ND |
CFHR4 | p.D424N | Missense | SNP | 0.372 | 2 | - | ND |
CHCHD2 | p.A37V | Missense | SNP | 0.613 | 2 | - | ND |
CHRNA4 | p.L619M | Missense | SNP | 0.528 | 2 | - | ND |
CHST2 | p.D441N | Missense | SNP | 0.452 | 2 | - | ND |
CHST7 | p.G415S | Missense | SNP | 0.391 | ND | ND | ND |
CIC | p.R863C | Missense | SNP | 0.568 | 2 | - | ND |
CKMT1A | p.R309H | Missense | SNP | 0.517 | 2 | - | ND |
CLASP2 | p.R1236W | Missense | SNP | 0.534 | 2 | - | ND |
CLASRP | p.D81N | Missense | SNP | 0.455 | 2 | - | ND |
CLEC16A | p.T848A | Missense | SNP | 0.423 | 2 | - | ND |
CLHC1 | p.X272_splice | Splice_Site | SNP | 0.618 | 2 | - | ND |
CLIP2 | p.M653V | Missense | SNP | 0.609 | 2 | - | ND |
CLTA | p.R213W | Missense | SNP | 0.457 | 2 | - | ND |
CNN1 | p.D52G | Missense | SNP | 0.508 | 2 | - | ND |
CNTN6 | p.G664S | Missense | SNP | 0.480 | 2 | - | ND |
CNTNAP2 | - | - | - | - | 3 | Gain | ND |
COL15A1 | p.D639G | Missense | SNP | 0.547 | 2 | - | ND |
COL5A1 | p.G607R | Missense | SNP | 0.511 | 2 | - | ND |
COLQ | p.G231* | Nonsense | SNP | 0.471 | 2 | - | ND |
CPSF4L | p.R73Q | Missense | SNP | 0.487 | 2 | - | ND |
CPXM1 | p.V356M | Missense | SNP | 0.523 | 2 | - | ND |
CRAT | p.K426E | Missense | SNP | 0.522 | 2 | - | ND |
CRB1 | p.K553T | Missense | SNP | 0.470 | 2 | - | ND |
CRIPAK | p.H442N | Missense | SNP | 0.428 | ND | ND | ND |
CRTAC1 | p.H556R | Missense | SNP | 0.538 | 2 | - | ND |
CS | p.K382R | Missense | SNP | 0.560 | 2 | - | ND |
CSMD1 | p.I1814F | Missense | SNP | 0.505 | 2 | - | ND |
CSNK2A1 | p.Y125C | Missense | SNP | 0.515 | 2 | - | ND |
CSTB | p.Y97* | Nonsense | SNP | 0.528 | 2 | - | ND |
CTAGE1 | p.R556S | Missense | SNP | 0.476 | 2 | - | ND |
CTAGE4 | - | - | - | - | 1 | Loss | ND |
CTAGE8 | - | - | - | - | 1 | Loss | ND |
CTC-260F20.3 | p.A106V | Missense | SNP | 0.646 | ND | ND | ND |
CTPS1 | p.G558D | Missense | SNP | 0.393 | 2 | - | ND |
CUBN | p.N2576D | Missense | SNP | 0.493 | 2 | - | ND |
CWC22 | p.E426K | Missense | SNP | 0.474 | 2 | - | ND |
CYP21A2 | - | - | - | - | 1 | Loss | ND |
CYP26C1 | p.A164V | Missense | SNP | 0.386 | 2 | - | ND |
CYP2D6 | p.V359M | Missense | SNP | 0.350 | 2 | - | ND |
DACT3 | p.P495H | Missense | SNP | 0.457 | 2 | - | ND |
DCC | p.P234T | Missense | SNP | 0.421 | 2 | - | ND |
DCHS2 | p.A309D | Missense | SNP | 0.486 | 2 | - | ND |
DCST2 | p.M314L | Missense | SNP | 0.426 | 2 | - | ND |
DDB1 | p.D705N | Missense | SNP | 0.468 | 2 | - | ND |
DDN | p.Q29* | Nonsense | SNP | 0.487 | 2 | - | ND |
DDX11 | p.K209N | Missense | SNP | 0.476 | 2 | - | ND |
DEPDC1B | p.Y156C | Missense | SNP | 0.429 | 2 | - | ND |
DGKA | p.P454S | Missense | SNP | 0.436 | 2 | - | ND |
DHH | p.G304S | Missense | SNP | 0.500 | 2 | - | ND |
DHX37 | p.R1097G | Missense | SNP | 0.495 | 2 | - | ND |
DISP1 | p.S957L | Missense | SNP | 0.476 | 2 | - | ND |
DMRTA2 | p.R105C | Missense | SNP | 0.399 | 2 | - | ND |
DNAH1 | p.H3607L | Missense | SNP | 0.496 | 2 | - | ND |
DNAH10 | p.Q3307H | Missense | SNP | 0.517 | 2 | - | ND |
DNAH11 | p.L1636F | Missense | SNP | 0.457 | 2 | - | ND |
DNAH3 | p.F2236V | Missense | SNP | 0.508 | 2 | - | ND |
DNAJC6 | p.R806* | Nonsense | SNP | 0.402 | 2 | - | ND |
DNM1 | p.L452I | Missense | SNP | 0.482 | 2 | - | ND |
DNMT1 | p.V1284A | Missense | SNP | 0.424 | 2 | - | ND |
DOC2B | p.A60T | Missense | SNP | 0.513 | 2 | - | ND |
DOCK3 | p.E901D p.H1605R | Missense Missense | SNP SNP | 0.294 0.401 | 2 | - | ND |
DPCR1 | p.A1237T | Missense | SNP | 0.444 | ND | ND | ND |
DPM1 | p.P125S | Missense | SNP | 0.514 | 2 | - | ND |
DPT | p.S47G | Missense | SNP | 0.527 | 2 | - | ND |
DPY19L2 | p.R147H | Missense | SNP | 0.474 | 2 | - | ND |
DRD3 | p.P247L | Missense | SNP | 0.507 | 2 | - | ND |
DRD4 | p.A234V | Missense | SNP | 0.524 | 2 | - | ND |
DSE | p.K834E | Missense | SNP | 0.511 | 2 | - | ND |
DSPP | p.S293G | Missense | SNP | 0.488 | 2 | - | ND |
DSTYK | p.G30V | Missense | SNP | 0.537 | 2 | - | ND |
DTD1 | p.V133A | Missense | SNP | 0.495 | 2 | - | ND |
DUSP16 | p.L442I | Missense | SNP | 0.527 | 2 | - | ND |
ECT2 | p.X749_splice | Splice_Site | SNP | 0.452 | 2 | - | ND |
EDRF1 | p.R953* | Nonsense | SNP | 0.452 | 2 | - | ND |
EFNA1 | p.L197F | Missense | SNP | 0.436 | 2 | - | ND |
EGFL6 | p.A48V | Missense | SNP | 0.343 | ND | ND | ND |
EHBP1 | p.V29A | Missense | SNP | 0.562 | 2 | - | ND |
EIF3G | p.S217R | Missense | SNP | 0.513 | 2 | - | ND |
EIF4G1 | p.R901C | Missense | SNP | 0.516 | 2 | - | ND |
EOMES | p.R602S | Missense | SNP | 0.453 | 2 | - | ND |
EPB41 | p.T798S | Missense | SNP | 0.483 | 2 | - | ND |
EPB41L1 | p.A143E | Missense | SNP | 0.437 | 2 | - | ND |
EPHA5 | p.Q511H | Missense | SNP | 0.543 | 2 | - | ND |
EPHA7 | p.R811W | Missense | SNP | 0.376 | 2 | - | ND |
EPS8L1 | p.R290C | Missense | SNP | 0.483 | 2 | - | ND |
EVC | p.A756T | Missense | SNP | 0.519 | 2 | - | ND |
EYS | p.R164Q | Missense | SNP | 0.472 | 2 | - | ND |
F10 | p.A474T | Missense | SNP | 0.464 | 2 | - | ND |
FAM161A | p.E477K | Missense | SNP | 0.482 | 2 | - | ND |
FAM179B | p.R722W | Missense | SNP | 0.620 | ND | ND | ND |
FAM184A | p.P1109S | Missense | SNP | 0.525 | 2 | - | ND |
FAM193A | p.E838* | Nonsense | SNP | 0.469 | 2 | - | ND |
FAM199X | p.D45N | Missense | SNP | 0.238 | ND | ND | ND |
FAM213A | p.V212I | Missense | SNP | 0.579 | ND | ND | ND |
FAM9B | p.G25* | Nonsense | SNP | 0.351 | ND | ND | ND |
FAT4 | p.A4625T | Missense | SNP | 0.509 | 2 | - | ND |
FBLL1 | p.V84G p.A229V | Missense Missense | SNP SNP | 0.377 0.507 | 2 | - | ND |
FBN2 | p.A1032S | Missense | SNP | 0.477 | 2 | - | ND |
FBN3 | p.R2688* | Nonsense | SNP | 0.528 | 2 | - | ND |
FBXL19 | p.P191T | Missense | SNP | 0.566 | 2 | - | ND |
FBXL8 | p.L354M | Missense | SNP | 0.533 | 2 | - | ND |
FBXO40 | p.H565R | Missense | SNP | 0.539 | 2 | - | ND |
FBXW10 | p.P223T | Missense | SNP | 0.403 | 2 | - | ND |
FCHSD1 | p.S630I | Missense | SNP | 0.514 | 2 | - | ND |
FDPS | p.D317G | Missense | SNP | 0.410 | 2 | - | ND |
FEV | p.A165P | Missense | SNP | 0.500 | 2 | - | ND |
FHDC1 | p.H593R | Missense | SNP | 0.460 | 2 | - | ND |
FIBCD1 | p.F449C | Missense | SNP | 0.462 | 2 | - | ND |
FKBP8 | p.S130L | Missense | SNP | 0.471 | 2 | - | ND |
FLNB | p.T1076M | Missense | SNP | 0.497 | 2 | - | ND |
FLRT2 | p.S173N | Missense | SNP | 0.593 | 3 | Gain | ND |
FMNL2 | p.F14I | Missense | SNP | 0.464 | 2 | - | ND |
FOXC1 | p.F167I | Missense | SNP | 0.453 | 2 | - | ND |
FOXE3 | p.D110N | Missense | SNP | 0.511 | 2 | - | ND |
FOXG1 | - | - | - | - | 3 | Gain | ND |
FOXK1 | p.V676A | Missense | SNP | 0.593 | 2 | - | ND |
FRMPD3 | p.R1386H | Missense | SNP | 0.661 | ND | ND | ND |
FSIP2 | p.X343_splice | Splice_Site | SNP | 0.438 | 2 | - | ND |
FUT9 | p.M50T | Missense | SNP | 0.479 | 2 | - | ND |
FZD7 | p.Y179C | Missense | SNP | 0.358 | 2 | - | ND |
GABPB2 | p.D304V | Missense | SNP | 0.482 | 2 | - | ND |
GAL3ST4 | p.A368V | Missense | SNP | 0.502 | 2 | - | ND |
GALNT14 | p.V540I | Missense | SNP | 0.435 | 2 | - | ND |
GAR1 | p.G61D | Missense | SNP | 0.553 | 2 | - | ND |
GATAD2B | p.R310H | Missense | SNP | 0.483 | 2 | - | ND |
GCC1 | p.R558Q | Missense | SNP | 0.514 | 2 | - | ND |
GDF6 | p.R62W | Missense | SNP | 0.459 | 2 | - | ND |
GET4 | p.F203L | Missense | SNP | 0.492 | 2 | - | ND |
GFPT1 | p.P109T | Missense | SNP | 0.437 | 2 | - | ND |
GINS4 | p.K200M | Missense | SNP | 0.498 | 2 | - | ND |
GLRX3 | p.N134D | Missense | SNP | 0.561 | 2 | - | ND |
GLTSCR1 | p.N1324I | Missense | SNP | 0.438 | ND | ND | ND |
GPM6A | p.A223T | Missense | SNP | 0.459 | 2 | - | ND |
GPR37L1 | p.Q306K | Missense | SNP | 0.455 | 2 | - | ND |
GREB1L | p.A971V | Missense | SNP | 0.524 | 2 | - | ND |
GRIA3 | p.Q619* | Nonsense | SNP | 0.329 | ND | ND | ND |
GRIP1 | p.R905C | Missense | SNP | 0.477 | 2 | - | ND |
GRM1 | p.S1163R | Missense | SNP | 0.530 | 2 | - | ND |
GSE1 | p.R361C | Missense | SNP | 0.447 | 2 | - | ND |
GSG2 | p.H746R | Missense | SNP | 0.551 | ND | ND | ND |
GTF3C1 | p.R1514Q | Missense | SNP | 0.373 | 2 | - | ND |
GTSF1 | p.A55V | Missense | SNP | 0.485 | 2 | - | ND |
GUCY1A2 | p.E679K | Missense | SNP | 0.561 | 2 | - | ND |
HBQ1 | p.L49M | Missense | SNP | 0.508 | 2 | - | ND |
HCN1 | p.R590Q | Missense | SNP | 0.562 | 2 | - | ND |
HEATR4 | p.Y344* | Nonsense | SNP | 0.467 | 2 | - | ND |
HECTD4 | p.L3686P p.K1147N | Missense Missense | SNP SNP | 0.489 0.489 | 2 | - | ND |
HECW1 | p.A775S | Missense | SNP | 0.491 | 2 | - | ND |
HECW2 | p.A422V | Missense | SNP | 0.460 | 2 | - | ND |
HMCN2 | p.P3867H | Missense | SNP | 0.509 | 2 | - | ND |
HR | p.S930P | Missense | SNP | 0.432 | 2 | - | ND |
HSH2D | p.A282T | Missense | SNP | 0.480 | 2 | - | ND |
HSPA1L | p.D595N | Missense | SNP | 0.492 | 2 | - | ND |
HUNK | p.D494N | Missense | SNP | 0.494 | 2 | - | ND |
IARS | p.F339S | Missense | SNP | 0.446 | 2 | - | ND |
IBTK | p.I526V | Missense | SNP | 0.455 | 2 | - | ND |
ICAM4 | p.R26C | Missense | SNP | 0.429 | 2 | - | ND |
IDI1 | p.T141M | Missense | SNP | 0.478 | 2 | - | ND |
IFIT1 | p.Q410H | Missense | SNP | 0.456 | 2 | - | ND |
IFT74 | p.F191L | Missense | SNP | 0.429 | 2 | - | ND |
IGF2R | p.Y2115C | Missense | SNP | 0.446 | 2 | - | ND |
IGSF9B | p.A804T | Missense | SNP | 0.558 | 2 | - | ND |
IL18RAP | p.T401M | Missense | SNP | 0.484 | 2 | - | ND |
IL2RG | p.Y189H | Missense | SNP | 0.382 | ND | ND | ND |
INHBA | p.K163E | Missense | SNP | 0.452 | 2 | - | ND |
IRAK2 | p.S172L | Missense | SNP | 0.511 | 2 | - | ND |
IRF9 | p.R13W | Missense | SNP | 0.500 | 2 | - | ND |
IRX1 | p.G121D | Missense | SNP | 0.515 | 2 | - | ND |
ITGA4 | p.G31S | Missense | SNP | 0.399 | 2 | - | ND |
ITGA9 | p.L645M | Missense | SNP | 0.417 | 2 | - | ND |
ITGAD | p.D529G | Missense | SNP | 0.483 | 2 | - | ND |
IZUMO4 | p.T221P | Missense | SNP | 0.458 | 2 | - | ND |
JMY | p.Y443H | Missense | SNP | 0.493 | 2 | - | ND |
KALRN | p.R1137C | Missense | SNP | 0.448 | 2 | - | ND |
KANSL1L | p.E474K | Missense | SNP | 0.490 | 2 | - | ND |
KAZN | p.T416M | Missense | SNP | 0.409 | 2 | - | ND |
KCNA4 | p.C586F | Missense | SNP | 0.450 | 2 | - | ND |
KCND2 | - | - | - | - | 3 | Gain | ND |
KCNG3 | p.A86V | Missense | SNP | 0.498 | 2 | - | ND |
KCNMA1 | p.D1107N | Missense | SNP | 0.561 | 2 | - | ND |
KCNS2 | p.V230M | Missense | SNP | 0.407 | 2 | - | ND |
KCTD8 | p.G160D | Missense | SNP | 0.452 | 2 | - | ND |
KDF1 | p.R146W | Missense | SNP | 0.546 | 2 | - | ND |
KIAA0319 | p.R791* | Nonsense | SNP | 0.495 | 2 | - | ND |
KIAA0895L | p.P164T | Missense | SNP | 0.408 | 2 | - | ND |
KIAA1217 | p.S930L | Missense | SNP | 0.478 | 2 | - | ND |
KIF13B | p.E944K | Missense | SNP | 0.542 | 2 | - | ND |
KIF3C | p.S216C | Missense | SNP | 0.504 | 2 | - | ND |
KIF5B | p.A461V | Missense | SNP | 0.534 | 2 | - | ND |
KIF7 | p.R691C | Missense | SNP | 0.497 | 2 | - | ND |
KLC3 | p.E50D | Missense | SNP | 0.444 | 2 | - | ND |
KLHL34 | p.S584L p.T260M | Missense Missense | SNP SNP | 0.304 0.347 | ND | ND | ND |
KLK14 | p.A60V | Missense | SNP | 0.545 | 2 | - | ND |
KMT2B | p.D1349E | Missense | SNP | 0.455 | 2 | - | ND |
KMT2D | p.Q1302R | Missense | SNP | 0.547 | 2 | - | ND |
KPNA5 | p.A103T | Missense | SNP | 0.500 | 2 | - | ND |
KREMEN2 | p.T374M | Missense | SNP | 0.553 | 2 | - | ND |
KRT12 | p.M129I | Missense | SNP | 0.551 | 2 | - | ND |
KRTAP19-1 | p.G61C | Missense | SNP | 0.528 | 2 | - | ND |
LAMB3 | p.C584* | Nonsense | SNP | 0.529 | 2 | - | ND |
LARS2 | p.E294K | Missense | SNP | 0.463 | 2 | - | ND |
LCE5A | p.S61I | Missense | SNP | 0.456 | 2 | - | ND |
LDOC1 | p.P47L p.A18T | Missense Missense | SNP SNP | 0.345 0.329 | ND | ND | ND |
LHPP | p.E177V | Missense | SNP | 0.510 | 2 | - | ND |
LIN28A | p.R132Q | Missense | DNP | 0.482 | 2 | - | ND |
LOXHD1 | p.K82E | Missense | SNP | 0.617 | 2 | - | ND |
LOXL2 | p.R338C | Missense | SNP | 0.461 | 2 | - | ND |
LOXL4 | p.R427C | Missense | SNP | 0.586 | 2 | - | ND |
LRCH4 | p.V663I | Missense | SNP | 0.434 | 2 | - | ND |
LRP2 | p.D297Y | Missense | SNP | 0.491 | 2 | - | ND |
LRRC75B | p.L215P | Missense | SNP | 0.469 | 2 | - | ND |
LRRIQ3 | p.T128A | Missense | SNP | 0.481 | 2 | - | ND |
LRRK1 | p.V1320A | Missense | SNP | 0.417 | 2 | - | ND |
LY6G5B | p.T27M | Missense | SNP | 0.516 | 2 | - | ND |
LZIC | p.L138I | Missense | SNP | 0.429 | 2 | - | ND |
MAD1L1 | p.L113I | Missense | SNP | 0.406 | 2 | - | ND |
MADCAM1 | p.R188H | Missense | SNP | 0.468 | 2 | - | ND |
MAFA | p.E251D | Missense | SNP | 0.493 | 2 | - | ND |
MAGEB6P1 | p.A365S | Missense | SNP | 0.309 | ND | ND | ND |
MAGEC1 | p.D91N p.S713R | Missense Missense | SNP SNP | 0.333 0.353 | ND | ND | ND |
MAP10 | p.E397K | Missense | SNP | 0.510 | 2 | - | ND |
MAP3K1 | p.V569I | Missense | SNP | 0.513 | 2 | - | ND |
MAP3K12 | p.G229C | Missense | SNP | 0.474 | 2 | - | ND |
MAP3K15 | p.E309D | Missense | SNP | 0.303 | ND | ND | ND |
MAPKBP1 | p.X725_splice | Splice_Site | SNP | 0.505 | 2 | - | ND |
MAST2 | p.R1202P | Missense | SNP | 0.385 | 2 | - | ND |
MAST4 | p.T1769M | Missense | SNP | 0.517 | 2 | - | ND |
MBD1 | p.N554S | Missense | SNP | 0.411 | 2 | - | ND |
MCIDAS | p.A252V | Missense | SNP | 0.548 | 2 | - | ND |
MCOLN1 | p.R318C | Missense | SNP | 0.450 | 2 | - | ND |
MCRS1 | p.E183V | Missense | SNP | 0.428 | 2 | - | ND |
MED13 | p.X2098_splice | Splice_Site | SNP | 0.477 | 2 | - | ND |
MEGF8 | p.S1358P | Missense | SNP | 0.493 | 2 | - | ND |
MEI1 | p.A1074V | Missense | SNP | 0.464 | 2 | - | ND |
MELTF | p.A383V | Missense | SNP | 0.388 | 2 | - | ND |
METTL11B | p.V134I | Missense | SNP | 0.451 | 2 | - | ND |
METTL13 | p.S99G | Missense | SNP | 0.455 | 2 | - | ND |
METTL25 | p.R232S | Missense | SNP | 0.387 | 2 | - | ND |
MEX3B | p.P211S | Missense | SNP | 0.516 | 2 | - | ND |
MGAT5 | p.C145R | Missense | SNP | 0.562 | 2 | - | ND |
MLXIPL | p.E30Q | Missense | SNP | 0.537 | 2 | - | ND |
MMP28 | p.A206V | Missense | SNP | 0.448 | 2 | - | ND |
MMS22L | p.H1047Y | Missense | SNP | 0.498 | 2 | - | ND |
MOB4 | p.A102T | Missense | SNP | 0.426 | 2 | - | ND |
MORC4 | p.D88N | Missense | SNP | 0.358 | ND | ND | ND |
MORN3 | p.M151T | Missense | SNP | 0.519 | 2 | - | ND |
MPL | p.G343E | Missense | SNP | 0.559 | 2 | - | ND |
MPO | p.E282K | Missense | SNP | 0.454 | 2 | - | ND |
MPZL2 | p.H80R | Missense | SNP | 0.462 | 2 | - | ND |
MRM3 | p.A259T | Missense | SNP | 0.455 | 2 | - | ND |
MROH2A | p.Q997K | Missense | SNP | 0.535 | 1 | Loss | ND |
MTF2 | p.G486* | Nonsense | SNP | 0.475 | 2 | - | ND |
MUC5B | p.P1436L | Missense | SNP | 0.543 | 2 | - | ND |
MXRA5 | p.Q486R | Missense | SNP | 0.286 | ND | ND | ND |
MYO15B | p.A1123V | Missense | SNP | 0.505 | 2 | - | ND |
MYO1G | p.Q420L | Missense | SNP | 0.542 | 2 | - | ND |
MYOZ1 | p.A157V | Missense | SNP | 0.585 | 2 | - | ND |
MZT2A | p.Q155H | Missense | SNP | 0.513 | 2 | - | ND |
NALCN | p.R297H | Missense | SNP | 0.406 | 2 | - | ND |
NAP1L6 | p.E104V | Missense | SNP | 0.318 | ND | ND | ND |
NAT8 | p.P50A | Missense | SNP | 0.494 | 2 | - | ND |
NCBP2 | p.R91C | Missense | SNP | 0.498 | 2 | - | ND |
NCOR1 | p.A317S | Missense | SNP | 0.371 | 2 | - | ND |
NEB | p.R8481* | Nonsense | SNP | 0.461 | 2 | - | ND |
NEFM | p.R204H | Missense | SNP | 0.575 | 2 | - | ND |
NEIL2 | p.Q284* | Nonsense | SNP | 0.551 | 2 | - | ND |
NHS | p.R137W | Missense | SNP | 0.298 | ND | ND | ND |
NID1 | p.C414R | Missense | SNP | 0.492 | 2 | - | ND |
NINJ2 | p.A23T | Missense | SNP | 0.572 | 2 | - | ND |
NIPBL | p.R834* p.M2398T | Nonsense Missense | SNP SNP | 0.470 0.508 | 2 | - | ND |
NKIRAS2 | p.G45S | Missense | SNP | 0.447 | 2 | - | ND |
NKX2-3 | p.A294V | Missense | SNP | 0.553 | 2 | - | ND |
NKX2-6 | p.V137M | Missense | SNP | 0.475 | 2 | - | ND |
NLE1 | p.P41Q | Missense | SNP | 0.444 | 2 | - | ND |
NLGN3 | p.M457V | Missense | SNP | 0.336 | ND | ND | ND |
NLRC5 | p.L28P p.A728T p.D1782V | Missense Missense Missense | SNP SNP SNP | 0.464 0.438 0.412 | 2 | - | ND |
NLRP4 | p.Q533K | Missense | SNP | 0.524 | 2 | - | ND |
NOG | p.R182C | Missense | SNP | 0.553 | 2 | - | ND |
NOL4 | p.L585M | Missense | SNP | 0.503 | 2 | - | ND |
NOP56 | p.P506H | Missense | SNP | 0.511 | 2 | - | ND |
NOTCH4 | p.T1083A | Missense | SNP | 0.382 | 2 | - | ND |
NPAS4 | p.V167M | Missense | SNP | 0.487 | 2 | - | ND |
NR1H3 | p.R160L | Missense | SNP | 0.462 | 2 | - | ND |
NRXN1 | p.M1492V | Missense | SNP | 0.503 | 2 | - | ND |
NSUN2 | p.P504H | Missense | SNP | 0.553 | 2 | - | ND |
NSUN6 | p.G328E | Missense | SNP | 0.434 | 2 | - | ND |
NUDT11 | p.R40W | Missense | SNP | 0.341 | ND | ND | ND |
NUP210 | p.R1871H | Missense | SNP | 0.453 | 2 | - | ND |
OBSCN | p.V5179M p.R6883H p.G8883D | Missense Missense Missense | SNP SNP SNP | 0.442 0.535 0.475 | 2 | - | ND |
OGDHL | p.A400T | Missense | SNP | 0.642 | 2 | - | ND |
OR1M1 | p.L82R | Missense | SNP | 0.620 | 2 | - | ND |
OR2A1 | - | - | - | - | 1 | Loss | ND |
OR2A42 | - | - | - | - | 1 | Loss | ND |
OR2A7 | - | - | - | - | 1 | Loss | ND |
OR2B11 | p.L75I | Missense | SNP | 0.474 | 2 | - | ND |
OR51F1 | p.Y261H | Missense | SNP | 0.581 | 2 | - | ND |
OR52E8 | p.H111R | Missense | SNP | 0.450 | 2 | - | ND |
OR5L1 | p.D89V | Missense | SNP | 0.505 | 2 | - | ND |
OSGIN1 | p.R80L | Missense | SNP | 0.465 | 2 | - | ND |
OTUD7A | p.R672Q | Missense | SNP | 0.520 | 2 | - | ND |
OVOS2 | p.Y1125H | Missense | SNP | 0.493 | ND | ND | ND |
P3H2 | p.S550T | Missense | SNP | 0.515 | 2 | - | ND |
PAGE1 | p.E133D | Missense | SNP | 0.361 | ND | ND | ND |
PANX2 | p.R427C | Missense | SNP | 0.535 | 2 | - | ND |
PAPD5 | p.A107T | Missense | SNP | 0.519 | ND | ND | ND |
PAX6 | p.L336I | Missense | SNP | 0.526 | 2 | - | ND |
PCDH10 | p.R970H | Missense | SNP | 0.466 | 2 | - | ND |
PCDH7 | p.R197C | Missense | SNP | 0.514 | 2 | - | ND |
PCDHA10 | p.S679L | Missense | SNP | 0.492 | 2 | - | ND |
PCDHA7 | p.V740E | Missense | SNP | 0.515 | 2 | - | ND |
PCDHB2 | p.A469T | Missense | SNP | 0.421 | 2 | - | ND |
PCDHGA11 | p.A697V | Missense | SNP | 0.498 | 2 | - | ND |
PCDHGA2 | p.R32H | Missense | SNP | 0.543 | 2 | - | ND |
PCSK1 | p.R669Q | Missense | SNP | 0.470 | 2 | - | ND |
PDZD4 | p.L373M | Missense | SNP | 0.281 | ND | ND | ND |
PDZD8 | p.R772C | Missense | SNP | 0.522 | 2 | - | ND |
PDZRN4 | p.Q177P | Missense | SNP | 0.449 | 2 | - | ND |
PEG3 | p.D560V p.D142N | Missense Missense | SNP SNP | 0.455 0.557 | 2 | - | ND |
PELP1 | p.L416R | Missense | SNP | 0.502 | 2 | - | ND |
PHACTR2 | p.E68* | Nonsense | SNP | 0.456 | 2 | - | ND |
PHF3 | p.R142Q | Missense | SNP | 0.475 | 2 | - | ND |
PHF8 | p.A946T p.R676W | Missense Missense | SNP SNP | 0.385 0.353 | ND | ND | ND |
PHIP | p.V732A | Missense | SNP | 0.573 | 2 | - | ND |
PHKA2 | p.X1113_splice | Splice_Site | SNP | 0.377 | ND | ND | ND |
PIEZO1 | p.W1403* | Nonsense | SNP | 0.379 | 2 | - | ND |
PIGG | p.R465G | Missense | SNP | 0.500 | 2 | - | ND |
PIGZ | p.T542I | Missense | SNP | 0.476 | 2 | - | ND |
PITX1 | p.L104P | Missense | SNP | 0.442 | 2 | - | ND |
PJA1 | p.T50M | Missense | SNP | 0.375 | ND | ND | ND |
PLA2G4A | - | - | - | - | 3 | Gain | ND |
PLCL2 | p.L172P | Missense | SNP | 0.484 | 2 | - | ND |
PLOD1 | p.R430H | Missense | SNP | 0.534 | 2 | - | ND |
PLXNB3 | p.A188V | Missense | SNP | 0.247 | ND | ND | ND |
PML | p.C754Y | Missense | SNP | 0.496 | 2 | - | ND |
PMP22 | p.L62M | Missense | SNP | 0.578 | 2 | - | ND |
PNPLA7 | p.R60G | Missense | SNP | 0.452 | 2 | - | ND |
POC1A | p.V169A | Missense | SNP | 0.418 | 2 | - | ND |
POLD2 | p.S479I | Missense | SNP | 0.516 | 2 | - | ND |
POLR1B | p.R1080W | Missense | SNP | 0.571 | 2 | - | ND |
POLR2A | p.X919_splice | Splice_Site | SNP | 0.591 | 2 | - | ND |
POM121L12 | - | - | - | - | 3 | Gain | ND |
POTEC | p.L57F | Missense | SNP | 0.552 | 2 | - | ND |
POTEE | p.T860S | Missense | SNP | 0.463 | ND | ND | ND |
POU5F1B | p.P14H | Missense | SNP | 0.500 | 2 | - | ND |
PPARGC1B | p.A397V | Missense | SNP | 0.419 | 2 | - | ND |
PPFIA3 | p.R539Q | Missense | SNP | 0.570 | 2 | - | ND |
PRDM10 | p.T1144I | Missense | SNP | 0.450 | 2 | - | ND |
PRDM13 | p.A369V | Missense | SNP | 0.444 | 2 | - | ND |
PRDM16 | p.A1063T | Missense | SNP | 0.490 | 2 | - | ND |
PREX2 | p.A1036V | Missense | SNP | 0.427 | 2 | - | ND |
PRKCH | p.A299V | Missense | SNP | 0.443 | 2 | - | ND |
PRKDC | p.V323A | Missense | SNP | 0.444 | 2 | - | ND |
PRPF8 | p.X1874_splice p.E534* | Splice_Site Nonsense | SNP SNP | 0.402 0.473 | 2 | - | ND |
PRRC2B | p.R262* | Nonsense | SNP | 0.520 | 2 | - | ND |
PSMA3 | p.D252G | Missense | SNP | 0.538 | 2 | - | ND |
PTCHD4 | p.R744Q | Missense | SNP | 0.519 | 2 | - | ND |
PTEN | p.G251V | Missense | SNP | 0.510 | 2 | - | ND |
PTH2 | p.P38R | Missense | SNP | 0.500 | 2 | - | ND |
PTPRU | p.P698H | Missense | SNP | 0.489 | 2 | - | ND |
PTTG1IP | p.E133G | Missense | SNP | 0.495 | 2 | - | ND |
PZP | p.N1044K | Missense | SNP | 0.554 | 2 | - | ND |
RAP1GAP | p.A540T | Missense | SNP | 0.540 | 2 | - | ND |
RBFOX3 | p.I309V | Missense | SNP | 0.477 | 2 | - | ND |
RBM5 | p.G447D | Missense | SNP | 0.547 | 2 | - | ND |
RELA | p.Y349C | Missense | SNP | 0.478 | 2 | - | ND |
RELN | p.K329* | Nonsense | SNP | 0.498 | 2 | - | ND |
RFX7 | p.Q820R | Missense | SNP | 0.521 | 2 | - | ND |
RGPD1 | - | - | - | - | 0 | Del | ND |
RGPD2 | - | - | - | - | 0 | Del | ND |
RGS1 | - | - | - | - | 3 | Gain | ND |
RGS18 | - | - | - | - | 3 | Gain | ND |
RGS21 | - | - | - | - | 3 | Gain | ND |
RHO | p.Y10C | Missense | SNP | 0.397 | 2 | - | ND |
RIMBP2 | p.Y212S | Missense | SNP | 0.440 | 2 | - | ND |
RIOK1 | p.G88* | Nonsense | SNP | 0.408 | 2 | - | ND |
RIOK2 | p.E280K | Missense | SNP | 0.523 | 2 | - | ND |
RNF123 | p.A477V | Missense | SNP | 0.470 | 2 | - | ND |
RNF17 | p.H686R | Missense | SNP | 0.405 | 2 | - | ND |
RNF175 | p.V114I | Missense | SNP | 0.582 | 2 | - | ND |
RNF181 | p.P93L | Missense | SNP | 0.444 | 2 | - | ND |
RPAP2 | p.R504L | Missense | SNP | 0.531 | 2 | - | ND |
RSF1 | p.R970C | Missense | SNP | 0.418 | 2 | - | ND |
RTFDC1 | p.V211M | Missense | SNP | 0.481 | ND | ND | ND |
RWDD3 | p.G253V | Missense | SNP | 0.513 | 2 | - | ND |
RYR2 | p.T4072M | Missense | SNP | 0.479 | 2 | - | ND |
RYR3 | p.R4043H | Missense | SNP | 0.492 | 2 | - | ND |
S1PR5 | p.R111W | Missense | SNP | 0.457 | 2 | - | ND |
SAFB | p.R718W | Missense | SNP | 0.431 | 2 | - | ND |
SAMD7 | p.N163K | Missense | SNP | 0.467 | 2 | - | ND |
SAP130 | p.C986L | Missense | DNP | 0.343 | 2 | - | ND |
SAV1 | p.R242* | Nonsense | SNP | 0.589 | 2 | - | ND |
SBK1 | p.T248A | Missense | SNP | 0.434 | 2 | - | ND |
SBK2 | p.R327H | Missense | SNP | 0.473 | 2 | - | ND |
SCAPER | p.R590* | Nonsense | SNP | 0.548 | 2 | - | ND |
SCARA5 | p.A304T | Missense | SNP | 0.352 | 2 | - | ND |
SCN7A | p.S530M | Missense | DNP | 0.375 | 2 | - | ND |
SCUBE3 | p.L477R | Missense | SNP | 0.482 | 2 | - | ND |
SEC16A | p.T1956M | Missense | SNP | 0.525 | 2 | - | ND |
SEMA3D | p.R113W | Missense | SNP | 0.509 | 2 | - | ND |
SEMA6A | p.Y472C | Missense | SNP | 0.455 | 2 | - | ND |
SEMA7A | p.R261H | Missense | SNP | 0.432 | 2 | - | ND |
SENP7 | p.K582N | Missense | SNP | 0.419 | 2 | - | ND |
SH2D4A | p.R247C | Missense | SNP | 0.514 | 2 | - | ND |
SH3GL1 | p.A125V | Missense | SNP | 0.500 | 2 | - | ND |
SHANK1 | p.V1207M | Missense | SNP | 0.459 | 2 | - | ND |
SIM1 | p.X248_splice | Splice_Site | SNP | 0.470 | 2 | - | ND |
SIMC1 | p.R458H | Missense | SNP | 0.409 | 2 | - | ND |
SIPA1L2 | p.E1180K | Missense | SNP | 0.419 | 2 | - | ND |
SIRT1 | p.R384* | Nonsense | SNP | 0.433 | 2 | - | ND |
SIRT2 | p.R381G | Missense | SNP | 0.519 | 2 | - | ND |
SLC22A18 | p.R89W | Missense | SNP | 0.426 | 2 | - | ND |
SLC27A6 | p.Q544* | Nonsense | SNP | 0.528 | 2 | - | ND |
SLC2A8 | p.R215C | Missense | SNP | 0.495 | 2 | - | ND |
SLC34A2 | p.C622R | Missense | SNP | 0.429 | 2 | - | ND |
SLC35A5 | p.A375T | Missense | SNP | 0.374 | 2 | - | ND |
SLC38A3 | p.L178P | Missense | SNP | 0.497 | 2 | - | ND |
SLC4A10 | p.R63* | Nonsense | SNP | 0.467 | 2 | - | ND |
SLC5A11 | p.A383V | Missense | SNP | 0.507 | 2 | - | ND |
SLC5A5 | p.F247L | Missense | SNP | 0.508 | 2 | - | ND |
SLC6A5 | p.S168Y | Missense | SNP | 0.597 | 2 | - | ND |
SLC6A6 | p.R278C | Missense | SNP | 0.473 | 2 | - | ND |
SLC7A4 | p.N593K p.G187* p.R135H | Missense Nonsense Missense | SNP SNP SNP | 0.557 0.449 0.509 | 2 | - | ND |
SLC7A8 | p.W182* | Nonsense | SNP | 0.531 | 2 | - | ND |
SLC8A3 | p.K601R | Missense | SNP | 0.416 | 2 | - | ND |
SLITRK1 | p.L184I | Missense | SNP | 0.488 | 2 | - | ND |
SLITRK5 | p.D161N | Missense | SNP | 0.450 | 2 | - | ND |
SMAD3 | p.H85R | Missense | SNP | 0.540 | 2 | - | ND |
SMC3 | p.R186W | Missense | SNP | 0.509 | 2 | - | ND |
SMCO2 | p.P331S | Missense | SNP | 0.451 | 2 | - | ND |
SNTB1 | p.R241W | Missense | SNP | 0.480 | 2 | - | ND |
SNX13 | p.Q160H | Missense | SNP | 0.583 | 2 | - | ND |
SOCS5 | p.R263M | Missense | SNP | 0.456 | 2 | - | ND |
SON | p.V1558I | Missense | SNP | 0.543 | 2 | - | ND |
SOX21 | p.A218T | Missense | SNP | 0.587 | 2 | - | ND |
SOX3 | p.I26M | Missense | SNP | 0.295 | ND | ND | ND |
SP140 | p.G549W | Missense | SNP | 0.545 | 2 | - | ND |
SPG11 | p.S464P | Missense | SNP | 0.477 | 2 | - | ND |
SPTBN4 | p.A1686V | Missense | SNP | 0.496 | 2 | - | ND |
SRCAP | p.Q3205R | Missense | SNP | 0.567 | 2 | - | ND |
SRPK3 | p.E501A | Missense | SNP | 0.315 | ND | ND | ND |
SRRM4 | p.R209W | Missense | SNP | 0.589 | 2 | - | ND |
SS18 | p.I16N | Missense | SNP | 0.638 | 2 | - | ND |
SSH2 | p.A1410T | Missense | SNP | 0.529 | 2 | - | ND |
STARD8 | p.G1050S | Missense | SNP | 0.342 | ND | ND | ND |
STAT4 | p.I105V | Missense | SNP | 0.559 | 2 | - | ND |
STK10 | p.R817C | Missense | SNP | 0.573 | 2 | - | ND |
STK19 | - | - | - | - | 1 | Loss | ND |
STRN4 | p.D519Y p.D419N | Missense Missense | SNP SNP | 0.493 0.572 | 2 | - | ND |
SURF6 | p.E286K | Missense | SNP | 0.431 | 2 | - | ND |
TAGAP | p.R412H | Missense | SNP | 0.490 | 2 | - | ND |
TBC1D1 | p.Q238R | Missense | SNP | 0.531 | 2 | - | ND |
TBC1D22B | p.A487V | Missense | SNP | 0.502 | 2 | - | ND |
TBR1 | p.S164F | Missense | SNP | 0.466 | 2 | - | ND |
TBX4 | p.V55A | Missense | SNP | 0.500 | 2 | - | ND |
TBXA2R | p.R53W | Missense | SNP | 0.460 | 2 | - | ND |
TCF25 | p.W675G | Missense | SNP | 0.507 | 2 | - | ND |
TDO2 | p.E24K | Missense | SNP | 0.467 | 2 | - | ND |
TEX13C | p.M421I | Missense | SNP | 0.324 | ND | ND | ND |
TFAP2B | p.S45L | Missense | SNP | 0.505 | 2 | - | ND |
TFEB | p.R329C | Missense | SNP | 0.430 | 2 | - | ND |
TGFBR1 | p.X467_splice | Splice_Site | SNP | 0.484 | 2 | - | ND |
TJP2 | p.E329K | Missense | SNP | 0.532 | 2 | - | ND |
TLE4 | p.S629I | Missense | SNP | 0.525 | 2 | - | ND |
TMEM101 | p.S20L | Missense | SNP | 0.470 | 2 | - | ND |
TMEM102 | p.D59E | Missense | SNP | 0.537 | 2 | - | ND |
TMEM131 | p.A449V | Missense | SNP | 0.462 | 2 | - | ND |
TMEM143 | p.L249P | Missense | SNP | 0.421 | 2 | - | ND |
TMEM184A | p.L50I | Missense | SNP | 0.607 | 2 | - | ND |
TMEM255B | p.S25L | Missense | SNP | 0.587 | 2 | - | ND |
TMIGD2 | p.L156P | Missense | SNP | 0.443 | 2 | - | ND |
TMX3 | p.K194N | Missense | SNP | 0.400 | 2 | - | ND |
TNFAIP6 | p.A42T | Missense | SNP | 0.370 | 2 | - | ND |
TNKS | p.R1161W | Missense | SNP | 0.417 | 2 | - | ND |
TNPO2 | p.M740I p.V451I | Missense Missense | SNP SNP | 0.534 0.505 | 2 | - | ND |
TNRC18 | p.R451C | Missense | SNP | 0.462 | 2 | - | ND |
TNRC6B | p.Q1307E | Missense | SNP | 0.420 | 2 | - | ND |
TNS2 | p.R37K | Missense | SNP | 0.512 | 2 | - | ND |
TNS3 | p.G934C | Missense | SNP | 0.515 | 2 | - | ND |
TNXB | - | - | - | - | 1 | Loss | ND |
TRAF7 | p.R71W | Missense | SNP | 0.397 | 2 | - | ND |
TRAV8-7 | p.E81D | Missense | SNP | 0.362 | ND | ND | ND |
TRIM10 | p.V383M | Missense | SNP | 0.562 | 2 | - | ND |
TRIM50 | p.D431N | Missense | SNP | 0.517 | 2 | - | ND |
TRPC5 | p.R512C | Missense | SNP | 0.343 | ND | ND | ND |
TRPM3 | p.T1290M | Missense | SNP | 0.468 | 2 | - | ND |
TRPM5 | p.L877P | Missense | SNP | 0.477 | 2 | - | ND |
TRPV4 | p.E444D | Missense | SNP | 0.387 | 2 | - | ND |
TTC27 | p.L376R | Missense | SNP | 0.503 | 2 | - | ND |
TTC28 | p.V1585M | Missense | SNP | 0.500 | 2 | - | ND |
TTC6 | p.R64C | Missense | SNP | 0.524 | 2 | - | ND |
TTLL10 | p.M239V | Missense | SNP | 0.494 | 2 | - | ND |
TTN | p.G30849V p.R1981K | Missense Missense | SNP SNP | 0.421 0.473 | 2 | - | ND |
TUBA3C | p.A385T | Missense | SNP | 0.521 | 2 | - | ND |
TUBA3D | p.G17S | Missense | SNP | 0.480 | 2 | - | ND |
TUBB4A | p.T386M p.L130I | Missense Missense | SNP SNP | 0.511 0.409 | 2 | - | ND |
TYRP1 | p.G10C | Missense | SNP | 0.490 | 2 | - | ND |
U2AF1L4 | p.R174M | Missense | SNP | 0.461 | 2 | - | ND |
UEVLD | p.X165_splice | Splice_Site | SNP | 0.478 | 2 | - | ND |
UGT1A1 | - | - | - | - | 1 | Loss | ND |
UGT1A10 | - | - | - | - | 1 | Loss | ND |
UGT1A3 | - | - | - | - | 1 | Loss | ND |
UGT1A4 | - | - | - | - | 1 | Loss | ND |
UGT1A5 | - | - | - | - | 1 | Loss | ND |
UGT1A6 | - | - | - | - | 1 | Loss | ND |
UGT1A7 | - | - | - | - | 1 | Loss | ND |
UGT1A8 | p.S141C | Missense | SNP | 0.463 | 1 | Loss | ND |
UGT1A9 | - | - | - | - | 1 | Loss | ND |
UGT2B4 | p.G341V | Missense | SNP | 0.412 | 2 | - | ND |
UNC13C | p.Q1420R | Missense | SNP | 0.432 | 2 | - | ND |
URB2 | p.A1028T | Missense | SNP | 0.444 | 2 | - | ND |
USP19 | p.V498A | Missense | SNP | 0.526 | 2 | - | ND |
USP27X | p.G186R | Missense | SNP | 0.712 | ND | ND | ND |
USP32 | p.T734A | Missense | SNP | 0.477 | 2 | - | ND |
USP9X | p.A1875V | Missense | SNP | 0.342 | ND | ND | ND |
UTS2R | p.R329H | Missense | SNP | 0.250 | 2 | - | ND |
VCAM1 | p.T79M | Missense | SNP | 0.482 | 2 | - | ND |
VCPIP1 | p.V221L | Missense | SNP | 0.478 | 2 | - | ND |
VPS13D | p.R3316H | Missense | SNP | 0.505 | 2 | - | ND |
VSIG10 | p.S87F | Missense | SNP | 0.483 | 2 | - | ND |
VSTM2L | p.G23S | Missense | SNP | 0.535 | 2 | - | ND |
VWA2 | p.G412D | Missense | SNP | 0.495 | 2 | - | ND |
WAS | p.G465* | Nonsense | SNP | 0.379 | ND | ND | ND |
WDFY4 | p.R94S | Missense | SNP | 0.520 | 2 | - | ND |
WDR45 | p.R233H | Missense | SNP | 0.333 | ND | ND | ND |
WDR49 | p.R647H | Missense | SNP | 0.574 | 2 | - | ND |
WDR7 | p.T1180M | Missense | SNP | 0.507 | 2 | - | ND |
WNK3 | p.K1437Q | Missense | SNP | 0.370 | ND | ND | ND |
WNT5A | p.V147M | Missense | SNP | 0.460 | 2 | - | ND |
XPNPEP2 | p.E639K | Missense | SNP | 0.356 | ND | ND | ND |
ZBTB20 | p.E728K | Missense | SNP | 0.552 | 2 | - | ND |
ZBTB33 | . | Splice_Site | SNP | 0.352 | ND | ND | ND |
ZDHHC20 | p.F245V | Missense | SNP | 0.484 | 2 | - | ND |
ZFHX4 | p.E2641K p.V2648A | Missense Missense | SNP SNP | 0.487 0.494 | 2 | - | ND |
ZMYND8 | p.C122Y | Missense | SNP | 0.523 | 2 | - | ND |
ZNF185 | p.A116T | Missense | SNP | 0.322 | ND | ND | ND |
ZNF467 | p.A447V | Missense | SNP | 0.577 | 2 | - | ND |
ZNF469 | p.N617S p.T2559I | Missense Missense | SNP SNP | 0.449 0.466 | 2 | - | ND |
ZNF518A | p.E95G | Missense | SNP | 0.483 | 2 | - | ND |
ZNF585B | p.G714E | Missense | SNP | 0.542 | 2 | - | ND |
ZNF665 | p.A69V | Missense | SNP | 0.507 | 2 | - | ND |
ZNF711 | p.Q127H | Missense | SNP | 0.623 | ND | ND | ND |
ZNF746 | p.T131M | Missense | SNP | 0.461 | 2 | - | ND |
ZNF804A | p.R770Q | Missense | SNP | 0.461 | 2 | - | ND |
ZNRF3 | p.G96D | Missense | SNP | 0.512 | 2 | - | ND |
ZSCAN12 | p.T79I | Missense | SNP | 0.454 | 2 | - | ND |