Variant Type | Calling Status |
---|---|
Mutations | Called |
Copy number | Called |
Fusions | No Data |
Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
---|---|---|---|---|---|---|---|
AAMDC | - | - | - | - | 3 | Gain | ND |
ABCG4 | - | - | - | - | 3 | Gain | ND |
ABL1 | p.P937L | Missense | SNP | 0.444 | 2 | - | ND |
AC007326.4 | - | - | - | - | 1 | Loss | ND |
AC093668.1 | - | - | - | - | 0 | Del | ND |
AC093668.2 | - | - | - | - | 0 | Del | ND |
AC093668.3 | - | - | - | - | 0 | Del | ND |
AC105052.1 | - | - | - | - | 0 | Del | ND |
AC105052.3 | - | - | - | - | 0 | Del | ND |
ACAD8 | - | - | - | - | 3 | Gain | ND |
ACER3 | - | - | - | - | 3 | Gain | ND |
ACRV1 | - | - | - | - | 3 | Gain | ND |
ACVR1 | p.R375H | Missense | SNP | 0.450 | 2 | - | ND |
ACY3 | - | - | - | - | 3 | Gain | ND |
ADAM29 | p.R723H | Missense | SNP | 0.469 | 2 | - | ND |
ADAMTS15 | - | - | - | - | 3 | Gain | ND |
ADAMTS8 | - | - | - | - | 3 | Gain | ND |
ADD1 | p.V585I | Missense | SNP | 0.569 | 2 | - | ND |
AIP | - | - | - | - | 3 | Gain | ND |
ALDH3B1 | - | - | - | - | 3 | Gain | ND |
ALDH3B2 | - | - | - | - | 3 | Gain | ND |
ALG8 | - | - | - | - | 3 | Gain | ND |
AMOTL1 | - | - | - | - | 3 | Gain | ND |
ANAPC15 | - | - | - | - | 3 | Gain | ND |
ANGPTL5 | - | - | - | - | 3 | Gain | ND |
ANKRD42 | - | - | - | - | 3 | Gain | ND |
ANKRD49 | - | - | - | - | 3 | Gain | ND |
ANO1 | - | - | - | - | 3 | Gain | ND |
AP000646.1 | - | - | - | - | 3 | Gain | ND |
AP000812.4 | - | - | - | - | 3 | Gain | ND |
AP000812.5 | - | - | - | - | 3 | Gain | ND |
AP001267.5 | - | - | - | - | 3 | Gain | ND |
AP001273.2 | - | - | - | - | 3 | Gain | ND |
AP002495.1 | - | - | - | - | 3 | Gain | ND |
AP4E1 | p.L1113M | Missense | SNP | 0.471 | 2 | - | ND |
APLP2 | - | - | - | - | 3 | Gain | ND |
APOA1 | - | - | - | - | 3 | Gain | ND |
APOA4 | - | - | - | - | 3 | Gain | ND |
APOA5 | - | - | - | - | 3 | Gain | ND |
APOC3 | - | - | - | - | 3 | Gain | ND |
AQP11 | - | - | - | - | 3 | Gain | ND |
AQP8 | p.R33W | Missense | SNP | 0.253 | 2 | - | ND |
ARAP1 | - | - | - | - | 3 | Gain | ND |
ARCN1 | - | - | - | - | 3 | Gain | ND |
ARHGAP32 | - | - | - | - | 3 | Gain | ND |
ARHGAP42 | - | - | - | - | 3 | Gain | ND |
ARHGEF12 | - | - | - | - | 3 | Gain | ND |
ARHGEF17 | - | - | - | - | 3 | Gain | ND |
ARRB1 | - | - | - | - | 3 | Gain | ND |
ARSF | p.A112P | Missense | SNP | 0.386 | ND | ND | ND |
ATG16L2 | - | - | - | - | 3 | Gain | ND |
ATP5ME | - | - | - | - | 1 | Loss | ND |
ATP5MG | - | - | - | - | 3 | Gain | ND |
ATRIP | p.C487Y | Missense | SNP | 0.565 | 2 | - | ND |
AUP1 | p.R227C | Missense | SNP | 0.474 | 2 | - | ND |
B3GAT1 | - | - | - | - | 3 | Gain | ND |
B3GNT6 | p.G221D | Missense | SNP | 0.453 | 3 | Gain | ND |
B4GALNT4 | p.V625M | Missense | SNP | 0.495 | 2 | - | ND |
BACE1 | - | - | - | - | 3 | Gain | ND |
BARX2 | - | - | - | - | 3 | Gain | ND |
BCL9 | p.R371C | Missense | SNP | 0.534 | 2 | - | ND |
BCL9L | - | - | - | - | 3 | Gain | ND |
BICC1 | p.K156* | Nonsense | SNP | 0.486 | 2 | - | ND |
BIRC2 | - | - | - | - | 3 | Gain | ND |
BIRC3 | - | - | - | - | 3 | Gain | ND |
BLID | - | - | - | - | 3 | Gain | ND |
BRINP3 | p.R159* | Nonsense | SNP | 0.462 | 2 | - | ND |
BRPF3 | p.R897C | Missense | SNP | 0.514 | 2 | - | ND |
BSND | p.D3N | Missense | SNP | 0.451 | 2 | - | ND |
BSX | - | - | - | - | 3 | Gain | ND |
BUD13 | - | - | - | - | 3 | Gain | ND |
C11orf24 | - | - | - | - | 3 | Gain | ND |
C11orf45 | - | - | - | - | 3 | Gain | ND |
C11orf54 | - | - | - | - | 3 | Gain | ND |
C11orf97 | - | - | - | - | 3 | Gain | ND |
C12orf42 | p.P244L | Missense | SNP | 0.472 | 2 | - | ND |
C1QTNF5 | - | - | - | - | 3 | Gain | ND |
C2CD2L | - | - | - | - | 3 | Gain | ND |
C2CD3 | - | - | - | - | 3 | Gain | ND |
C4orf48 | - | - | - | - | 1 | Loss | ND |
C6orf47 | p.P214L | Missense | SNP | 0.469 | 2 | - | ND |
CABP2 | - | - | - | - | 3 | Gain | ND |
CABP4 | - | - | - | - | 3 | Gain | ND |
CAPN5 | - | - | - | - | 3 | Gain | ND |
CARD16 | - | - | - | - | 3 | Gain | ND |
CARD17 | - | - | - | - | 3 | Gain | ND |
CARD18 | - | - | - | - | 3 | Gain | ND |
CARNS1 | - | - | - | - | 3 | Gain | ND |
CASP1 | - | - | - | - | 3 | Gain | ND |
CASP12 | - | - | - | - | 3 | Gain | ND |
CASP4 | - | - | - | - | 3 | Gain | ND |
CASP5 | - | - | - | - | 3 | Gain | ND |
CASS4 | p.S232N | Missense | SNP | 0.448 | 2 | - | ND |
CBL | - | - | - | - | 3 | Gain | ND |
CCDC15 | - | - | - | - | 3 | Gain | ND |
CCDC153 | - | - | - | - | 3 | Gain | ND |
CCDC39 | p.R214C | Missense | SNP | 0.490 | 2 | - | ND |
CCDC53 | p.T37I | Missense | SNP | 0.502 | ND | ND | ND |
CCDC77 | p.X348_splice | Splice_Site | SNP | 0.400 | 2 | - | ND |
CCDC81 | - | - | - | - | 3 | Gain | ND |
CCDC82 | - | - | - | - | 3 | Gain | ND |
CCDC83 | - | - | - | - | 3 | Gain | ND |
CCDC84 | - | - | - | - | 3 | Gain | ND |
CCDC89 | - | - | - | - | 3 | Gain | ND |
CCDC90B | - | - | - | - | 3 | Gain | ND |
CCND1 | - | - | - | - | 3 | Gain | ND |
CD3D | - | - | - | - | 3 | Gain | ND |
CD3E | - | - | - | - | 3 | Gain | ND |
CD3G | - | - | - | - | 3 | Gain | ND |
CD93 | p.V32M | Missense | SNP | 0.443 | 2 | - | ND |
CDK2AP2 | - | - | - | - | 3 | Gain | ND |
CDON | - | - | - | - | 3 | Gain | ND |
CEP126 | - | - | - | - | 3 | Gain | ND |
CEP164 | - | - | - | - | 3 | Gain | ND |
CEP295 | - | - | - | - | 3 | Gain | ND |
CEP57 | - | - | - | - | 3 | Gain | ND |
CFAP300 | - | - | - | - | 3 | Gain | ND |
CFAP99 | - | - | - | - | 1 | Loss | ND |
CHADL | p.R708S | Missense | SNP | 0.611 | 2 | - | ND |
CHEK1 | - | - | - | - | 3 | Gain | ND |
CHKA | - | - | - | - | 3 | Gain | ND |
CHL1 | p.G874E | Missense | SNP | 0.459 | 2 | - | ND |
CHORDC1 | - | - | - | - | 3 | Gain | ND |
CHRDL2 | - | - | - | - | 3 | Gain | ND |
CILP2 | p.G779D | Missense | SNP | 0.496 | 2 | - | ND |
CIZ1 | p.R740* | Nonsense | SNP | 0.476 | 2 | - | ND |
CLEC14A | p.R161* | Nonsense | SNP | 0.477 | 2 | - | ND |
CLMP | - | - | - | - | 3 | Gain | ND |
CLNS1A | - | - | - | - | 3 | Gain | ND |
CLPB | - | - | - | - | 3 | Gain | ND |
CNTN5 | - | - | - | - | 3 | Gain | ND |
CNTNAP2 | - | - | - | - | 3 | Gain | ND |
COA4 | - | - | - | - | 3 | Gain | ND |
CORO1B | - | - | - | - | 3 | Gain | ND |
CORO2B | p.R13C | Missense | SNP | 0.251 | 2 | - | ND |
CPLX1 | - | - | - | - | 1 | Loss | ND |
CPT1A | - | - | - | - | 3 | Gain | ND |
CREBZF | - | - | - | - | 3 | Gain | ND |
CRTAM | - | - | - | - | 3 | Gain | ND |
CSMD3 | p.V1571I | Missense | SNP | 0.738 | 2 | - | ND |
CTBP1 | - | - | - | - | 1 | Loss | ND |
CTNNA2 | p.A133V | Missense | SNP | 0.498 | 2 | - | ND |
CTSC | - | - | - | - | 3 | Gain | ND |
CTTN | - | - | - | - | 3 | Gain | ND |
CWC15 | - | - | - | - | 3 | Gain | ND |
CXCR5 | - | - | - | - | 3 | Gain | ND |
DCPS | - | - | - | - | 3 | Gain | ND |
DDIAS | - | - | - | - | 3 | Gain | ND |
DDX25 | - | - | - | - | 3 | Gain | ND |
DDX54 | p.I393V | Missense | SNP | 0.414 | 2 | - | ND |
DDX6 | - | - | - | - | 3 | Gain | ND |
DEUP1 | - | - | - | - | 3 | Gain | ND |
DGAT2 | - | - | - | - | 3 | Gain | ND |
DGCR6 | - | - | - | - | 1 | Loss | ND |
DGKQ | - | - | - | - | 1 | Loss | ND |
DHCR7 | - | - | - | - | 3 | Gain | ND |
DLG2 | - | - | - | - | 3 | Gain | ND |
DNAJB13 | - | - | - | - | 3 | Gain | ND |
DNAJC18 | p.A3V | Missense | SNP | 0.529 | 2 | - | ND |
DOCK11 | p.E394A | Missense | SNP | 0.270 | ND | ND | ND |
DPAGT1 | - | - | - | - | 3 | Gain | ND |
DSCAML1 | p.T1105M p.A917T | Missense Missense | SNP SNP | 0.443 0.504 | 3 | Gain | ND |
EED | - | - | - | - | 3 | Gain | ND |
EI24 | - | - | - | - | 3 | Gain | ND |
ELFN2 | p.R739H | Missense | SNP | 0.464 | 2 | - | ND |
EMSY | - | - | - | - | 3 | Gain | ND |
ENDOD1 | - | - | - | - | 3 | Gain | ND |
ERC2 | p.A835T | Missense | SNP | 0.371 | 2 | - | ND |
ESAM | - | - | - | - | 3 | Gain | ND |
ETS1 | - | - | - | - | 3 | Gain | ND |
FADD | - | - | - | - | 3 | Gain | ND |
FAM110D | p.P79L | Missense | SNP | 0.441 | 2 | - | ND |
FAM118B | - | - | - | - | 3 | Gain | ND |
FAM168A | - | - | - | - | 3 | Gain | ND |
FAM181B | - | - | - | - | 3 | Gain | ND |
FAM185A | - | - | - | - | 0 | Del | ND |
FAM53A | - | - | - | - | 1 | Loss | ND |
FAM76B | - | - | - | - | 3 | Gain | ND |
FAM86C1 | - | - | - | - | 3 | Gain | ND |
FAT3 | - | - | - | - | 3 | Gain | ND |
FAT4 | p.I3286M | Missense | SNP | 0.479 | 2 | - | ND |
FBXL13 | - | - | - | - | 0 | Del | ND |
FCHSD2 | - | - | - | - | 3 | Gain | ND |
FEZ1 | - | - | - | - | 3 | Gain | ND |
FGF19 | - | - | - | - | 3 | Gain | ND |
FGF3 | - | - | - | - | 3 | Gain | ND |
FGF4 | - | - | - | - | 3 | Gain | ND |
FGFR3 | - | - | - | - | 1 | Loss | ND |
FGFRL1 | - | - | - | - | 1 | Loss | ND |
FLG | p.G2251* | Nonsense | SNP | 0.514 | 2 | - | ND |
FLI1 | - | - | - | - | 3 | Gain | ND |
FLRT2 | - | - | - | - | 3 | Gain | ND |
FOLR1 | - | - | - | - | 3 | Gain | ND |
FOLR2 | - | - | - | - | 3 | Gain | ND |
FOLR3 | - | - | - | - | 3 | Gain | ND |
FOXR1 | - | - | - | - | 3 | Gain | ND |
FOXRED1 | - | - | - | - | 3 | Gain | ND |
FP565260.1 | - | - | - | - | 1 | Loss | ND |
FP565260.2 | - | - | - | - | 1 | Loss | ND |
FP565260.3 | - | - | - | - | 1 | Loss | ND |
FP565260.4 | - | - | - | - | 1 | Loss | ND |
FUT4 | - | - | - | - | 3 | Gain | ND |
FXYD2 | - | - | - | - | 3 | Gain | ND |
FXYD6 | - | - | - | - | 3 | Gain | ND |
FXYD6-FXYD2 | - | - | - | - | 3 | Gain | ND |
FZD4 | - | - | - | - | 3 | Gain | ND |
GAB2 | - | - | - | - | 3 | Gain | ND |
GAGE1 | p.T107M | Missense | SNP | 0.105 | ND | ND | ND |
GAK | - | - | - | - | 1 | Loss | ND |
GAL | - | - | - | - | 3 | Gain | ND |
GATD3B | - | - | - | - | 1 | Loss | ND |
GDPD4 | - | - | - | - | 3 | Gain | ND |
GDPD5 | - | - | - | - | 3 | Gain | ND |
GLB1L2 | - | - | - | - | 3 | Gain | ND |
GLB1L3 | - | - | - | - | 3 | Gain | ND |
GLRA4 | p.R106H | Missense | SNP | 0.559 | ND | ND | ND |
GPR152 | - | - | - | - | 3 | Gain | ND |
GPR83 | - | - | - | - | 3 | Gain | ND |
GRAMD1B | - | - | - | - | 3 | Gain | ND |
GRIA4 | - | - | - | - | 3 | Gain | ND |
GRIK4 | - | - | - | - | 3 | Gain | ND |
GRM5 | - | - | - | - | 3 | Gain | ND |
GSTP1 | - | - | - | - | 3 | Gain | ND |
GTF3C1 | p.R1245C | Missense | SNP | 0.518 | 2 | - | ND |
GUF1 | p.R631Q | Missense | SNP | 0.355 | 2 | - | ND |
GVQW3 | - | - | - | - | 3 | Gain | ND |
H2AFX | - | - | - | - | 3 | Gain | ND |
HAUS3 | - | - | - | - | 1 | Loss | ND |
HEPACAM | - | - | - | - | 3 | Gain | ND |
HEPHL1 | - | - | - | - | 3 | Gain | ND |
HEPN1 | - | - | - | - | 3 | Gain | ND |
HIKESHI | - | - | - | - | 3 | Gain | ND |
HINFP | - | - | - | - | 3 | Gain | ND |
HMBS | - | - | - | - | 3 | Gain | ND |
HNRNPAB | p.S296L | Missense | SNP | 0.496 | 2 | - | ND |
HRNR | p.H893Q | Missense | SNP | 0.450 | 2 | - | ND |
HSPA8 | - | - | - | - | 3 | Gain | ND |
HYLS1 | - | - | - | - | 3 | Gain | ND |
HYOU1 | p.R98S | Missense | SNP | 0.543 | 3 | Gain | ND |
IDUA | - | - | - | - | 1 | Loss | ND |
IFT140 | p.E790K | Missense | SNP | 0.481 | 2 | - | ND |
IFT46 | - | - | - | - | 3 | Gain | ND |
IGHMBP2 | - | - | - | - | 3 | Gain | ND |
IGSF9B | - | - | - | - | 3 | Gain | ND |
IL10RA | - | - | - | - | 3 | Gain | ND |
IL18BP | - | - | - | - | 3 | Gain | ND |
INPPL1 | - | - | - | - | 3 | Gain | ND |
INTS4 | - | - | - | - | 3 | Gain | ND |
IREB2 | p.R51* | Nonsense | SNP | 0.388 | 2 | - | ND |
IZUMO1R | - | - | - | - | 3 | Gain | ND |
JAM3 | - | - | - | - | 3 | Gain | ND |
JAML | - | - | - | - | 3 | Gain | ND |
JHY | - | - | - | - | 3 | Gain | ND |
JRKL | - | - | - | - | 3 | Gain | ND |
KANK4 | p.R219Q | Missense | SNP | 0.481 | 2 | - | ND |
KCNA7 | p.A262T | Missense | SNP | 0.495 | 2 | - | ND |
KCND2 | - | - | - | - | 3 | Gain | ND |
KCNE3 | - | - | - | - | 3 | Gain | ND |
KCNJ1 | - | - | - | - | 3 | Gain | ND |
KCNJ5 | - | - | - | - | 3 | Gain | ND |
KCTD14 | - | - | - | - | 3 | Gain | ND |
KCTD21 | - | - | - | - | 3 | Gain | ND |
KDM4D | - | - | - | - | 3 | Gain | ND |
KDM4E | - | - | - | - | 3 | Gain | ND |
KDM4F | - | - | - | - | 3 | Gain | ND |
KIAA1024 | p.P754L | Missense | SNP | 0.564 | 2 | - | ND |
KIF13B | p.R306S | Missense | SNP | 0.480 | 2 | - | ND |
KIRREL3 | - | - | - | - | 3 | Gain | ND |
KLHL35 | - | - | - | - | 3 | Gain | ND |
KMT2A | - | - | - | - | 3 | Gain | ND |
KMT5B | - | - | - | - | 3 | Gain | ND |
KRAS | p.G13D | Missense | SNP | 0.425 | 2 | - | ND |
KRT10 | p.R370H | Missense | SNP | 0.279 | 2 | - | ND |
KRTAP5-10 | - | - | - | - | 3 | Gain | ND |
KRTAP5-11 | - | - | - | - | 3 | Gain | ND |
KRTAP5-7 | - | - | - | - | 3 | Gain | ND |
KRTAP5-8 | - | - | - | - | 3 | Gain | ND |
KRTAP5-9 | - | - | - | - | 3 | Gain | ND |
LAMTOR1 | - | - | - | - | 3 | Gain | ND |
LDOC1L | p.R163C | Missense | SNP | 0.231 | ND | ND | ND |
LETM1 | - | - | - | - | 1 | Loss | ND |
LIPT2 | - | - | - | - | 3 | Gain | ND |
LRP12 | p.R746* | Nonsense | SNP | 0.430 | 2 | - | ND |
LRP1B | p.P1257H | Missense | SNP | 0.389 | 2 | - | ND |
LRP5 | - | - | - | - | 3 | Gain | ND |
LRRC32 | - | - | - | - | 3 | Gain | ND |
LRRIQ3 | - | - | - | - | 3 | Gain | ND |
LRRTM1 | p.A395V | Missense | SNP | 0.547 | 2 | - | ND |
LRTOMT | - | - | - | - | 3 | Gain | ND |
LTN1 | p.A211T | Missense | SNP | 0.459 | 2 | - | ND |
LTO1 | - | - | - | - | 3 | Gain | ND |
MAB21L1 | p.E75K | Missense | SNP | 0.270 | 2 | - | ND |
MAEA | - | - | - | - | 1 | Loss | ND |
MAGEL2 | p.R899C | Missense | SNP | 0.490 | 2 | - | ND |
MAML2 | - | - | - | - | 3 | Gain | ND |
MAP6 | - | - | - | - | 3 | Gain | ND |
MARCH7 | p.T36S | Missense | SNP | 0.340 | 2 | - | ND |
MAX | p.H28R | Missense | SNP | 0.539 | 2 | - | ND |
MCAM | - | - | - | - | 3 | Gain | ND |
ME3 | - | - | - | - | 3 | Gain | ND |
MED12 | p.R1627C | Missense | SNP | 0.470 | ND | ND | ND |
MED17 | - | - | - | - | 3 | Gain | ND |
MFRP | - | - | - | - | 3 | Gain | ND |
MIOS | p.R395C | Missense | SNP | 0.109 | 2 | - | ND |
MIS18BP1 | p.R237Q | Missense | SNP | 0.471 | 2 | - | ND |
MISP | p.A196V | Missense | SNP | 0.475 | 2 | - | ND |
MMP1 | - | - | - | - | 3 | Gain | ND |
MMP10 | - | - | - | - | 3 | Gain | ND |
MMP12 | - | - | - | - | 3 | Gain | ND |
MMP13 | - | - | - | - | 3 | Gain | ND |
MMP20 | - | - | - | - | 3 | Gain | ND |
MMP27 | - | - | - | - | 3 | Gain | ND |
MMP3 | - | - | - | - | 3 | Gain | ND |
MMP7 | - | - | - | - | 3 | Gain | ND |
MMP8 | - | - | - | - | 3 | Gain | ND |
MOGAT2 | - | - | - | - | 3 | Gain | ND |
MPZL2 | - | - | - | - | 3 | Gain | ND |
MPZL3 | - | - | - | - | 3 | Gain | ND |
MRE11 | - | - | - | - | 3 | Gain | ND |
MRGPRD | - | - | - | - | 3 | Gain | ND |
MRGPRF | - | - | - | - | 3 | Gain | ND |
MRPL11 | p.R154C | Missense | SNP | 0.473 | 2 | - | ND |
MRPL21 | - | - | - | - | 3 | Gain | ND |
MRPL48 | - | - | - | - | 3 | Gain | ND |
MSANTD2 | - | - | - | - | 3 | Gain | ND |
MTMR2 | - | - | - | - | 3 | Gain | ND |
MTNR1B | - | - | - | - | 3 | Gain | ND |
MUC17 | p.R2342C | Missense | SNP | 0.505 | 2 | - | ND |
MXD4 | - | - | - | - | 1 | Loss | ND |
MYEOV | - | - | - | - | 3 | Gain | ND |
MYL5 | - | - | - | - | 1 | Loss | ND |
MYO10 | p.A745V | Missense | SNP | 0.188 | 2 | - | ND |
MYO18A | p.R15W | Missense | SNP | 0.442 | 2 | - | ND |
MYO7A | - | - | - | - | 3 | Gain | ND |
NAALAD2 | - | - | - | - | 3 | Gain | ND |
NADSYN1 | - | - | - | - | 3 | Gain | ND |
NARS2 | - | - | - | - | 3 | Gain | ND |
NAT8L | - | - | - | - | 1 | Loss | ND |
NCAPD3 | - | - | - | - | 3 | Gain | ND |
NDUFA4 | - | - | - | - | 3 | Gain | ND |
NDUFC2 | - | - | - | - | 3 | Gain | ND |
NDUFC2-KCTD14 | - | - | - | - | 3 | Gain | ND |
NDUFS8 | - | - | - | - | 3 | Gain | ND |
NDUFV1 | - | - | - | - | 3 | Gain | ND |
NECTIN1 | - | - | - | - | 3 | Gain | ND |
NEGR1 | - | - | - | - | 3 | Gain | ND |
NELFA | - | - | - | - | 1 | Loss | ND |
NEU3 | - | - | - | - | 3 | Gain | ND |
NFRKB | - | - | - | - | 3 | Gain | ND |
NKX1-1 | - | - | - | - | 1 | Loss | ND |
NLRX1 | - | - | - | - | 3 | Gain | ND |
NOX4 | - | - | - | - | 3 | Gain | ND |
NPHP3 | p.N123K | Missense | SNP | 0.483 | 2 | - | ND |
NRGN | - | - | - | - | 3 | Gain | ND |
NSD2 | - | - | - | - | 1 | Loss | ND |
NTM | - | - | - | - | 3 | Gain | ND |
NUDT8 | - | - | - | - | 3 | Gain | ND |
NUMA1 | - | - | - | - | 3 | Gain | ND |
NUP205 | p.R1990* | Nonsense | SNP | 0.370 | 2 | - | ND |
OAF | - | - | - | - | 3 | Gain | ND |
OBSCN | p.A470T | Missense | SNP | 0.490 | 2 | - | ND |
OMP | - | - | - | - | 3 | Gain | ND |
OPCML | - | - | - | - | 3 | Gain | ND |
OR10D3 | - | - | - | - | 3 | Gain | ND |
OR10G4 | - | - | - | - | 3 | Gain | ND |
OR10G7 | - | - | - | - | 3 | Gain | ND |
OR10G8 | - | - | - | - | 3 | Gain | ND |
OR10G9 | - | - | - | - | 3 | Gain | ND |
OR10S1 | - | - | - | - | 3 | Gain | ND |
OR2AT4 | - | - | - | - | 3 | Gain | ND |
OR4D5 | - | - | - | - | 3 | Gain | ND |
OR4K5 | p.S6Y | Missense | SNP | 0.517 | 2 | - | ND |
OR6M1 | - | - | - | - | 3 | Gain | ND |
OR6T1 | - | - | - | - | 3 | Gain | ND |
OR6X1 | - | - | - | - | 3 | Gain | ND |
OR8A1 | - | - | - | - | 3 | Gain | ND |
OR8B12 | - | - | - | - | 3 | Gain | ND |
OR8B2 | - | - | - | - | 3 | Gain | ND |
OR8B3 | - | - | - | - | 3 | Gain | ND |
OR8B4 | - | - | - | - | 3 | Gain | ND |
OR8B8 | - | - | - | - | 3 | Gain | ND |
OR8D1 | - | - | - | - | 3 | Gain | ND |
OR8D2 | - | - | - | - | 3 | Gain | ND |
OR8D4 | - | - | - | - | 3 | Gain | ND |
OR8G1 | - | - | - | - | 3 | Gain | ND |
OR8G5 | - | - | - | - | 3 | Gain | ND |
P2RY2 | - | - | - | - | 3 | Gain | ND |
P2RY6 | - | - | - | - | 3 | Gain | ND |
P4HA3 | - | - | - | - | 3 | Gain | ND |
PAAF1 | - | - | - | - | 3 | Gain | ND |
PABPC3 | p.E149K | Missense | SNP | 0.427 | 2 | - | ND |
PAFAH1B2 | - | - | - | - | 3 | Gain | ND |
PAGE1 | p.R11H | Missense | SNP | 0.518 | ND | ND | ND |
PAK1 | - | - | - | - | 3 | Gain | ND |
PANX1 | - | - | - | - | 3 | Gain | ND |
PANX3 | - | - | - | - | 3 | Gain | ND |
PARP3 | p.R415C | Missense | SNP | 0.481 | 2 | - | ND |
PATE1 | - | - | - | - | 3 | Gain | ND |
PATE2 | - | - | - | - | 3 | Gain | ND |
PATE3 | - | - | - | - | 3 | Gain | ND |
PATE4 | - | - | - | - | 3 | Gain | ND |
PCF11 | - | - | - | - | 3 | Gain | ND |
PCGF3 | - | - | - | - | 1 | Loss | ND |
PCIF1 | p.E200K | Missense | SNP | 0.610 | 2 | - | ND |
PCSK7 | - | - | - | - | 3 | Gain | ND |
PDE2A | - | - | - | - | 3 | Gain | ND |
PDE6B | p.A471T | Missense | SNP | 0.692 | 1 | Loss | ND |
PDZD3 | - | - | - | - | 3 | Gain | ND |
PGM2L1 | - | - | - | - | 3 | Gain | ND |
PGR | - | - | - | - | 3 | Gain | ND |
PHF14 | - | - | - | - | 3 | Gain | ND |
PHLDB1 | - | - | - | - | 3 | Gain | ND |
PHOX2A | - | - | - | - | 3 | Gain | ND |
PICALM | - | - | - | - | 3 | Gain | ND |
PIGG | - | - | - | - | 1 | Loss | ND |
PIK3R1 | p.R358* p.X582_splice | Nonsense Splice_Site | SNP SNP | 0.463 0.559 | 2 | - | ND |
PITPNM1 | - | - | - | - | 3 | Gain | ND |
PIWIL4 | - | - | - | - | 3 | Gain | ND |
PKNOX2 | - | - | - | - | 3 | Gain | ND |
PLEKHB1 | - | - | - | - | 3 | Gain | ND |
PLOD1 | p.H225R | Missense | SNP | 0.545 | 2 | - | ND |
PODXL | p.V107M | Missense | SNP | 0.477 | 2 | - | ND |
POLD3 | - | - | - | - | 3 | Gain | ND |
POLN | - | - | - | - | 1 | Loss | ND |
POLR2J2 | - | - | - | - | 0 | Del | ND |
POLR2J3 | - | - | - | - | 0 | Del | ND |
POU2F3 | - | - | - | - | 3 | Gain | ND |
PPFIA1 | - | - | - | - | 3 | Gain | ND |
PPFIBP2 | p.R110C | Missense | SNP | 0.522 | 2 | - | ND |
PPM1F | p.R167H | Missense | SNP | 0.424 | 2 | - | ND |
PPME1 | - | - | - | - | 3 | Gain | ND |
PPP1CA | - | - | - | - | 3 | Gain | ND |
PPP2CA | p.R206H | Missense | SNP | 0.475 | 2 | - | ND |
PPP6R3 | - | - | - | - | 3 | Gain | ND |
PRCP | - | - | - | - | 3 | Gain | ND |
PRDM10 | - | - | - | - | 3 | Gain | ND |
PRODH | - | - | - | - | 1 | Loss | ND |
PRR5L | p.V11I | Missense | SNP | 0.242 | 2 | - | ND |
PRSS23 | - | - | - | - | 3 | Gain | ND |
PTPRCAP | - | - | - | - | 3 | Gain | ND |
PTPRD | p.P1257L | Missense | SNP | 0.532 | 2 | - | ND |
PTPRS | p.A918V | Missense | SNP | 0.536 | 2 | - | ND |
PTRF | p.E188K | Missense | SNP | 0.510 | ND | ND | ND |
PUS3 | - | - | - | - | 3 | Gain | ND |
RAB11FIP1 | p.A413S | Missense | SNP | 0.491 | 2 | - | ND |
RAB30 | - | - | - | - | 3 | Gain | ND |
RAB38 | - | - | - | - | 3 | Gain | ND |
RAB6A | - | - | - | - | 3 | Gain | ND |
RAD9A | - | - | - | - | 3 | Gain | ND |
RASA4 | - | - | - | - | 0 | Del | ND |
RELT | - | - | - | - | 3 | Gain | ND |
RGPD1 | - | - | - | - | 0 | Del | ND |
RGPD2 | - | - | - | - | 0 | Del | ND |
RNF121 | - | - | - | - | 3 | Gain | ND |
RNF169 | - | - | - | - | 3 | Gain | ND |
RNF212 | - | - | - | - | 1 | Loss | ND |
RNF214 | p.R482H | Missense | SNP | 0.566 | 3 | Gain | ND |
RNF223 | p.S29N | Missense | SNP | 0.333 | 2 | - | ND |
RNF26 | - | - | - | - | 3 | Gain | ND |
RNF4 | - | - | - | - | 1 | Loss | ND |
ROBO3 | - | - | - | - | 3 | Gain | ND |
ROBO4 | - | - | - | - | 3 | Gain | ND |
ROCK1 | - | - | - | - | 3 | Gain | ND |
RP1 | p.R193H | Missense | SNP | 0.542 | 2 | - | ND |
RPGRIP1 | p.E44D | Missense | SNP | 0.140 | 2 | - | ND |
RPS25 | - | - | - | - | 3 | Gain | ND |
RPS3 | - | - | - | - | 3 | Gain | ND |
RPS6KB2 | - | - | - | - | 3 | Gain | ND |
RPUSD4 | - | - | - | - | 3 | Gain | ND |
RSAD1 | p.R396Q | Missense | SNP | 0.556 | 2 | - | ND |
RSF1 | - | - | - | - | 3 | Gain | ND |
SC5D | - | - | - | - | 3 | Gain | ND |
SCN2B | - | - | - | - | 3 | Gain | ND |
SCN3B | - | - | - | - | 3 | Gain | ND |
SCN4B | - | - | - | - | 3 | Gain | ND |
SERINC3 | p.L5P | Missense | SNP | 0.253 | 2 | - | ND |
SERPINF2 | p.G68* | Nonsense | SNP | 0.538 | 2 | - | ND |
SERPINH1 | - | - | - | - | 3 | Gain | ND |
SESN3 | - | - | - | - | 3 | Gain | ND |
SETD2 | p.R540Q | Missense | SNP | 0.475 | 2 | - | ND |
SH2D3C | p.A443S | Missense | SNP | 0.606 | 2 | - | ND |
SHANK2 | - | - | - | - | 3 | Gain | ND |
SIAE | - | - | - | - | 3 | Gain | ND |
SIDT2 | - | - | - | - | 3 | Gain | ND |
SIK3 | - | - | - | - | 3 | Gain | ND |
SKI | p.A540V | Missense | SNP | 0.559 | 2 | - | ND |
SLBP | - | - | - | - | 1 | Loss | ND |
SLC22A8 | p.R50C | Missense | SNP | 0.473 | 2 | - | ND |
SLC26A1 | - | - | - | - | 1 | Loss | ND |
SLC36A4 | - | - | - | - | 3 | Gain | ND |
SLC37A2 | - | - | - | - | 3 | Gain | ND |
SLC37A4 | - | - | - | - | 3 | Gain | ND |
SLC38A5 | p.R339H | Missense | SNP | 0.457 | ND | ND | ND |
SLC45A3 | p.P309L | Missense | SNP | 0.483 | 2 | - | ND |
SLC49A3 | - | - | - | - | 1 | Loss | ND |
SLCO1A2 | p.E297K | Missense | SNP | 0.659 | 2 | - | ND |
SLCO2B1 | - | - | - | - | 3 | Gain | ND |
SMCO4 | - | - | - | - | 3 | Gain | ND |
SNX19 | - | - | - | - | 3 | Gain | ND |
SORL1 | - | - | - | - | 3 | Gain | ND |
SOX3 | p.R22W | Missense | SNP | 0.467 | ND | ND | ND |
SPA17 | - | - | - | - | 3 | Gain | ND |
SPATA19 | - | - | - | - | 3 | Gain | ND |
SPCS2 | - | - | - | - | 3 | Gain | ND |
SPON2 | - | - | - | - | 1 | Loss | ND |
SRPRA | - | - | - | - | 3 | Gain | ND |
SRSF8 | - | - | - | - | 3 | Gain | ND |
ST14 | - | - | - | - | 3 | Gain | ND |
ST3GAL4 | - | - | - | - | 3 | Gain | ND |
STARD10 | - | - | - | - | 3 | Gain | ND |
STT3A | - | - | - | - | 3 | Gain | ND |
SYTL2 | - | - | - | - | 3 | Gain | ND |
TACC3 | - | - | - | - | 1 | Loss | ND |
TAF1 | p.G1292E | Missense | SNP | 0.407 | ND | ND | ND |
TAF1D | - | - | - | - | 3 | Gain | ND |
TAGLN | - | - | - | - | 3 | Gain | ND |
TBC1D10C | - | - | - | - | 3 | Gain | ND |
TBCEL | - | - | - | - | 3 | Gain | ND |
TBRG1 | - | - | - | - | 3 | Gain | ND |
TBX10 | - | - | - | - | 3 | Gain | ND |
TCEB3B | p.R235C | Missense | SNP | 0.508 | ND | ND | ND |
TCIRG1 | - | - | - | - | 3 | Gain | ND |
TECTA | - | - | - | - | 3 | Gain | ND |
TENM4 | - | - | - | - | 3 | Gain | ND |
TESMIN | - | - | - | - | 3 | Gain | ND |
TEX2 | p.V785M | Missense | SNP | 0.562 | 2 | - | ND |
THAP12 | - | - | - | - | 3 | Gain | ND |
THRSP | - | - | - | - | 3 | Gain | ND |
THY1 | - | - | - | - | 3 | Gain | ND |
THYN1 | - | - | - | - | 3 | Gain | ND |
TIRAP | - | - | - | - | 3 | Gain | ND |
TMEM123 | - | - | - | - | 3 | Gain | ND |
TMEM126A | - | - | - | - | 3 | Gain | ND |
TMEM126B | - | - | - | - | 3 | Gain | ND |
TMEM129 | - | - | - | - | 1 | Loss | ND |
TMEM132D | p.R853W | Missense | SNP | 0.502 | 2 | - | ND |
TMEM134 | - | - | - | - | 3 | Gain | ND |
TMEM135 | - | - | - | - | 3 | Gain | ND |
TMEM136 | - | - | - | - | 3 | Gain | ND |
TMEM175 | - | - | - | - | 1 | Loss | ND |
TMEM178A | p.A141T | Missense | SNP | 0.467 | 2 | - | ND |
TMEM218 | - | - | - | - | 3 | Gain | ND |
TMEM225 | - | - | - | - | 3 | Gain | ND |
TMEM25 | - | - | - | - | 3 | Gain | ND |
TMEM45B | - | - | - | - | 3 | Gain | ND |
TMPRSS13 | - | - | - | - | 3 | Gain | ND |
TMPRSS4 | - | - | - | - | 3 | Gain | ND |
TOR4A | p.A208V | Missense | SNP | 0.535 | 2 | - | ND |
TP53AIP1 | - | - | - | - | 3 | Gain | ND |
TPBGL | - | - | - | - | 3 | Gain | ND |
TPCN2 | - | - | - | - | 3 | Gain | ND |
TRAPPC4 | - | - | - | - | 3 | Gain | ND |
TREH | - | - | - | - | 3 | Gain | ND |
TRIM29 | - | - | - | - | 3 | Gain | ND |
TRIM49 | - | - | - | - | 3 | Gain | ND |
TRIM49C | - | - | - | - | 3 | Gain | ND |
TRIM49D1 | - | - | - | - | 3 | Gain | ND |
TRIM49D2 | - | - | - | - | 3 | Gain | ND |
TRIM52 | p.C227* | Nonsense | SNP | 0.484 | 2 | - | ND |
TRIM64B | - | - | - | - | 3 | Gain | ND |
TRIM77 | - | - | - | - | 3 | Gain | ND |
TRPC6 | - | - | - | - | 3 | Gain | ND |
TSKU | - | - | - | - | 3 | Gain | ND |
TTC36 | - | - | - | - | 3 | Gain | ND |
TUBAL3 | p.V216I | Missense | SNP | 0.522 | 2 | - | ND |
TYR | - | - | - | - | 3 | Gain | ND |
UBASH3B | p.E436K | Missense | SNP | 0.632 | 3 | Gain | ND |
UBE4A | - | - | - | - | 3 | Gain | ND |
UBTFL1 | - | - | - | - | 3 | Gain | ND |
UCP2 | - | - | - | - | 3 | Gain | ND |
UCP3 | - | - | - | - | 3 | Gain | ND |
UNC13B | p.R1085C | Missense | SNP | 0.471 | 2 | - | ND |
UNC5CL | p.R244H | Missense | SNP | 0.512 | 2 | - | ND |
UNC93B1 | - | - | - | - | 3 | Gain | ND |
UPK2 | - | - | - | - | 3 | Gain | ND |
UPK3BL1 | - | - | - | - | 0 | Del | ND |
UROC1 | p.G72R | Missense | SNP | 0.533 | 2 | - | ND |
USP2 | - | - | - | - | 3 | Gain | ND |
USP35 | - | - | - | - | 3 | Gain | ND |
USPL1 | p.S248L | Missense | SNP | 0.478 | 2 | - | ND |
UVRAG | - | - | - | - | 3 | Gain | ND |
UVSSA | - | - | - | - | 1 | Loss | ND |
VPS11 | - | - | - | - | 3 | Gain | ND |
VPS13C | p.N23S | Missense | SNP | 0.521 | 2 | - | ND |
VPS26B | - | - | - | - | 3 | Gain | ND |
VSIG10L2 | - | - | - | - | 3 | Gain | ND |
VSIG2 | - | - | - | - | 3 | Gain | ND |
VSTM5 | - | - | - | - | 3 | Gain | ND |
VWA5A | - | - | - | - | 3 | Gain | ND |
WNT11 | - | - | - | - | 3 | Gain | ND |
XRRA1 | - | - | - | - | 3 | Gain | ND |
YAP1 | - | - | - | - | 3 | Gain | ND |
ZBP1 | p.R109W | Missense | SNP | 0.527 | 2 | - | ND |
ZBTB44 | - | - | - | - | 3 | Gain | ND |
ZBTB7B | p.R397L | Missense | SNP | 0.439 | 2 | - | ND |
ZC3H7A | p.L389V | Missense | SNP | 0.547 | 2 | - | ND |
ZFP36L2 | p.C299Y | Missense | SNP | 0.422 | 2 | - | ND |
ZFYVE28 | - | - | - | - | 1 | Loss | ND |
ZNF141 | - | - | - | - | 1 | Loss | ND |
ZNF169 | p.R549C | Missense | SNP | 0.462 | 2 | - | ND |
ZNF202 | - | - | - | - | 3 | Gain | ND |
ZNF595 | - | - | - | - | 1 | Loss | ND |
ZNF718 | - | - | - | - | 1 | Loss | ND |
ZNF721 | - | - | - | - | 1 | Loss | ND |
ZNF732 | - | - | - | - | 1 | Loss | ND |
ZPR1 | - | - | - | - | 3 | Gain | ND |