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 | - |
ABCB9 | - | - | - | - | 3 | Gain | - |
ABCC1 | p.D904G | Missense | SNP | 0.429 | 2 | - | - |
ABCC2 | p.S821G p.L1183M | Missense Missense | SNP SNP | 0.511 0.541 | 2 | - | - |
ABCC6 | p.A1083T | Missense | SNP | 0.510 | 2 | - | - |
ABCC9 | p.R304H | Missense | SNP | 0.340 | 3 | Gain | - |
ABCD1 | p.S161L | Missense | SNP | 0.473 | ND | ND | - |
ABCD2 | - | - | - | - | 3 | Gain | - |
ABCG1 | p.Q563* | Nonsense | SNP | 0.445 | 2 | - | - |
ABLIM1 | p.L208R | Missense | SNP | 0.513 | 2 | - | - |
AC002996.1 | - | - | - | - | 3 | Gain | - |
AC005779.2 | - | - | - | - | 3 | Gain | - |
AC005832.4 | - | - | - | - | 3 | Gain | - |
AC005833.1 | - | - | - | - | 3 | Gain | - |
AC006064.6 | - | - | - | - | 3 | Gain | - |
AC006486.1 | - | - | - | - | 3 | Gain | - |
AC006518.7 | - | - | - | - | 3 | Gain | - |
AC008012.1 | - | - | - | - | 3 | Gain | - |
AC008403.1 | - | - | - | - | 3 | Gain | - |
AC008537.1 | - | - | - | - | 3 | Gain | - |
AC008687.1 | - | - | - | - | 3 | Gain | - |
AC008687.4 | - | - | - | - | 3 | Gain | - |
AC008687.8 | - | - | - | - | 3 | Gain | - |
AC008750.8 | - | - | - | - | 3 | Gain | - |
AC008982.1 | - | - | - | - | 3 | Gain | - |
AC010197.2 | - | - | - | - | 3 | Gain | - |
AC010325.1 | - | - | - | - | 3 | Gain | - |
AC010327.1 | - | - | - | - | 3 | Gain | - |
AC010487.3 | - | - | - | - | 3 | Gain | - |
AC010616.1 | - | - | - | - | 3 | Gain | - |
AC010616.2 | - | - | - | - | 3 | Gain | - |
AC010619.1 | - | - | - | - | 3 | Gain | - |
AC011452.1 | - | - | - | - | 3 | Gain | - |
AC011455.2 | - | - | - | - | 3 | Gain | - |
AC011462.1 | - | - | - | - | 3 | Gain | - |
AC011473.4 | - | - | - | - | 3 | Gain | - |
AC011479.1 | - | - | - | - | 3 | Gain | - |
AC011530.1 | - | - | - | - | 3 | Gain | - |
AC011604.2 | - | - | - | - | 3 | Gain | - |
AC012309.1 | - | - | - | - | 3 | Gain | - |
AC012531.2 | - | - | - | - | 3 | Gain | - |
AC013264.1 | p.T750A | Missense | SNP | 0.459 | ND | ND | - |
AC018755.2 | - | - | - | - | 3 | Gain | - |
AC020907.6 | - | - | - | - | 3 | Gain | - |
AC020909.1 | - | - | - | - | 3 | Gain | - |
AC020922.1 | - | - | - | - | 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 | AC048338.1--SUN1 |
AC067968.1 | - | - | - | - | 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 | - |
AC092073.1 | - | - | - | - | 3 | Gain | - |
AC092111.3 | - | - | - | - | 3 | Gain | - |
AC093227.2 | - | - | - | - | 3 | Gain | - |
AC097104.1 | - | - | - | - | 3 | Gain | - |
AC117378.1 | - | - | - | - | 3 | Gain | - |
AC137834.1 | - | - | - | - | 3 | Gain | - |
AC243967.1 | - | - | - | - | 3 | Gain | - |
AC245748.1 | - | - | - | - | 3 | Gain | - |
AC253536.7 | - | - | - | - | 1 | Loss | - |
ACACB | - | - | - | - | 3 | Gain | - |
ACAD10 | - | - | - | - | 3 | Gain | - |
ACADS | - | - | - | - | 3 | Gain | - |
ACP4 | - | - | - | - | 3 | Gain | - |
ACP7 | - | - | - | - | 3 | Gain | - |
ACRBP | - | - | - | - | 3 | Gain | - |
ACSL1 | p.R237* | Nonsense | SNP | 0.465 | 2 | - | - |
ACSM4 | - | - | - | - | 3 | Gain | - |
ACSS3 | - | - | - | - | 3 | Gain | - |
ACTN4 | - | - | - | - | 3 | Gain | - |
ACTR6 | - | - | - | - | 3 | Gain | - |
ACVR1B | - | - | - | - | 3 | Gain | - |
ACVRL1 | - | - | - | - | 3 | Gain | - |
AD000671.1 | - | - | - | - | 3 | Gain | - |
AD000671.2 | - | - | - | - | 3 | Gain | - |
ADAM12 | p.Q329* | Nonsense | SNP | 0.467 | 2 | - | - |
ADAM15 | p.A34V | Missense | SNP | 0.471 | 2 | - | - |
ADAMTS1 | p.A169T | Missense | SNP | 0.494 | 2 | - | - |
ADAMTS10 | p.A421V | Missense | SNP | 0.581 | 2 | - | - |
ADAMTS20 | - | - | - | - | 3 | Gain | - |
ADAMTS4 | p.R290C | Missense | SNP | 0.563 | 2 | - | - |
ADAMTS9 | p.R1187* | Nonsense | SNP | 0.465 | 2 | - | - |
ADCY10 | p.I13V | Missense | SNP | 0.491 | 2 | - | - |
ADCY4 | p.R407* | Nonsense | SNP | 0.520 | 2 | - | - |
ADCY6 | - | - | - | - | 3 | Gain | - |
ADGRA2 | p.P1006L | Missense | SNP | 0.574 | 2 | - | - |
ADGRD1 | - | - | - | - | 3 | Gain | - |
ADGRG7 | p.Q327P | Missense | SNP | 0.500 | 2 | - | - |
ADIPOR2 | - | - | - | - | 3 | Gain | - |
ADM5 | - | - | - | - | 3 | Gain | - |
ADRA1B | p.R148C | Missense | SNP | 0.464 | 2 | - | - |
AEBP2 | - | - | - | - | 3 | Gain | - |
AFAP1L2 | p.X6_splice | Splice_Site | SNP | 0.510 | 2 | - | - |
AGAP2 | - | - | - | - | 3 | Gain | - |
AICDA | - | - | - | - | 3 | Gain | - |
AK9 | p.G1585E | Missense | SNP | 0.383 | 2 | - | - |
AKAP1 | p.A202V | Missense | SNP | 0.474 | 2 | - | - |
AKAP13 | p.S461Y | Missense | SNP | 0.505 | 2 | - | - |
AKAP3 | - | - | - | - | 3 | Gain | - |
AKR1B10 | p.Q275H | Missense | SNP | 0.439 | 2 | - | - |
AKT1S1 | - | - | - | - | 3 | Gain | - |
AKT2 | - | - | - | - | 3 | Gain | - |
AL021546.1 | - | - | - | - | 3 | Gain | - |
AL445238.1 | - | - | - | - | 3 | Gain | - |
AL445989.1 | - | - | - | - | 3 | Gain | - |
ALDH16A1 | - | - | - | - | 3 | Gain | - |
ALDH1L2 | - | - | - | - | 3 | Gain | - |
ALDH2 | - | - | - | - | 3 | Gain | - |
ALG10 | - | - | - | - | 3 | Gain | - |
ALG10B | - | - | - | - | 3 | Gain | - |
ALK | p.V1471M p.G963S p.A92D | Missense Missense Missense | SNP SNP SNP | 0.466 0.407 0.454 | 2 | - | - |
ALKBH2 | - | - | - | - | 3 | Gain | - |
ALKBH6 | - | - | - | - | 3 | Gain | - |
ALPK3 | p.R425Q | Missense | SNP | 0.430 | 2 | - | - |
ALX1 | - | - | - | - | 3 | Gain | - |
AMACR | p.P280S | Missense | SNP | 0.534 | 2 | - | - |
AMDHD1 | - | - | - | - | 3 | Gain | - |
AMHR2 | - | - | - | - | 3 | Gain | - |
AMIGO2 | - | - | - | - | 3 | Gain | - |
AMN1 | - | - | - | - | 3 | Gain | - |
AMPD3 | p.T680M | Missense | SNP | 0.541 | 2 | - | - |
ANAPC5 | p.A484T | Missense | SNP | 0.629 | 3 | Gain | - |
ANAPC7 | - | - | - | - | 3 | Gain | - |
ANGPTL4 | p.A59V | Missense | SNP | 0.524 | 2 | - | - |
ANHX | - | - | - | - | 3 | Gain | - |
ANK3 | p.D895G p.A341V | Missense Missense | SNP SNP | 0.525 0.377 | 2 | - | - |
ANKFY1 | p.V1039M | Missense | SNP | 0.431 | 2 | - | - |
ANKLE1 | p.D44N | Missense | SNP | 0.471 | 2 | - | - |
ANKLE2 | - | - | - | - | 3 | Gain | - |
ANKRD13A | - | - | - | - | 3 | Gain | - |
ANKRD27 | - | - | - | - | 3 | Gain | - |
ANKRD31 | p.D1251V | Missense | SNP | 0.493 | 2 | - | - |
ANKRD33 | - | - | - | - | 3 | Gain | - |
ANKRD52 | p.S837I | Missense | SNP | 0.638 | 3 | Gain | - |
ANKRD6 | p.A92S | Missense | SNP | 0.477 | 2 | - | - |
ANKS1B | - | - | - | - | 3 | Gain | - |
ANKUB1 | p.A216V | Missense | SNP | 0.530 | 2 | - | - |
ANO2 | - | - | - | - | 3 | Gain | - |
ANO4 | - | - | - | - | 3 | Gain | - |
ANO6 | - | - | - | - | 3 | Gain | - |
ANP32D | - | - | - | - | 3 | Gain | - |
AP2A1 | p.R664Q | Missense | SNP | 0.697 | 3 | Gain | - |
AP2S1 | - | - | - | - | 3 | Gain | - |
APAF1 | - | - | - | - | 3 | Gain | - |
APC | p.K2050N | Missense | SNP | 0.467 | 2 | - | - |
APLP1 | - | - | - | - | 3 | Gain | - |
APOB | p.Q3601R | Missense | SNP | 0.492 | 2 | - | - |
APOBEC1 | - | - | - | - | 3 | Gain | - |
APOC1 | - | - | - | - | 3 | Gain | - |
APOC2 | - | - | - | - | 3 | Gain | - |
APOC4-APOC2 | - | - | - | - | 3 | Gain | - |
APOE | - | - | - | - | 3 | Gain | - |
APOF | - | - | - | - | 3 | Gain | - |
APOLD1 | - | - | - | - | 3 | Gain | - |
APPL2 | - | - | - | - | 3 | Gain | - |
AQP1 | p.T146I | Missense | SNP | 0.534 | 2 | - | - |
AQP2 | - | - | - | - | 3 | Gain | - |
AQP5 | - | - | - | - | 3 | Gain | - |
AQP6 | - | - | - | - | 3 | Gain | - |
ARC | p.T311M | Missense | SNP | 0.493 | 2 | - | - |
ARF3 | - | - | - | - | 3 | Gain | - |
ARFGEF1 | p.G675E | Missense | SNP | 0.453 | 2 | - | - |
ARHGAP33 | - | - | - | - | 3 | Gain | - |
ARHGAP35 | - | - | - | - | 3 | Gain | - |
ARHGAP9 | - | - | - | - | 3 | Gain | - |
ARHGDIB | - | - | - | - | 3 | Gain | - |
ARHGEF1 | - | - | - | - | 3 | Gain | - |
ARHGEF11 | p.E613K | Missense | SNP | 0.517 | 2 | - | - |
ARHGEF25 | - | - | - | - | 3 | Gain | - |
ARHGEF40 | p.Q837R p.P998H p.C1012Y | Missense Missense Missense | SNP SNP SNP | 0.444 0.509 0.525 | 2 | - | - |
ARID1B | p.E13D | Missense | SNP | 0.509 | 2 | - | - |
ARID2 | p.S1619R | Missense | SNP | 0.301 | 3 | Gain | - |
ARL1 | - | - | - | - | 3 | Gain | - |
ARL6IP4 | - | - | - | - | 3 | Gain | - |
ARNT | p.S262L | Missense | SNP | 0.551 | 2 | - | - |
ARNTL2 | - | - | - | - | 3 | Gain | - |
ARPC3 | - | - | - | - | 3 | Gain | - |
ART4 | - | - | - | - | 3 | Gain | - |
ASB13 | p.A74V | Missense | SNP | 0.482 | 2 | - | - |
ASB8 | - | - | - | - | 3 | Gain | - |
ASCC3 | p.R1537H | Missense | SNP | 0.585 | 2 | - | - |
ASCL1 | - | - | - | - | 3 | Gain | - |
ASCL4 | - | - | - | - | 3 | Gain | - |
ASIC1 | - | - | - | - | 3 | Gain | - |
ASPDH | - | - | - | - | 3 | Gain | - |
ASXL1 | p.L1444R | Missense | SNP | 0.520 | 2 | - | - |
ATAD1 | - | - | - | - | 1 | Loss | - |
ATF1 | - | - | - | - | 3 | Gain | - |
ATF5 | - | - | - | - | 3 | Gain | - |
ATF7 | - | - | - | - | 3 | Gain | - |
ATF7IP | - | - | - | - | 3 | Gain | - |
ATG101 | - | - | - | - | 3 | Gain | - |
ATG2B | p.Q1423* | Nonsense | SNP | 0.492 | 2 | - | - |
ATG9B | p.P98Q | Missense | SNP | 0.426 | 2 | - | - |
ATIC | p.A140T | Missense | SNP | 0.390 | 2 | - | - |
ATN1 | - | - | - | - | 3 | Gain | - |
ATP13A4 | p.V802A | Missense | SNP | 0.508 | 2 | - | - |
ATP1A3 | - | - | - | - | 3 | Gain | - |
ATP1B4 | p.A27V | Missense | SNP | 0.408 | ND | ND | - |
ATP23 | - | - | - | - | 3 | Gain | - |
ATP2A2 | - | - | - | - | 3 | Gain | - |
ATP2B1 | - | - | - | - | 3 | Gain | - |
ATP4A | - | - | - | - | 3 | Gain | - |
ATP5F1B | - | - | - | - | 3 | Gain | - |
ATP5MC2 | - | - | - | - | 3 | Gain | - |
ATP6V0A2 | - | - | - | - | 3 | Gain | - |
ATP7A | p.S266T | Missense | SNP | 0.518 | ND | ND | - |
ATR | p.A1718T | Missense | SNP | 0.492 | 2 | - | - |
ATRX | p.D2004H | Missense | SNP | 0.474 | ND | ND | - |
ATXN2 | - | - | - | - | 3 | Gain | - |
ATXN2L | p.V31A | Missense | SNP | 0.396 | 2 | - | - |
ATXN7L3B | - | - | - | - | 3 | Gain | - |
AVIL | - | - | - | - | 3 | Gain | - |
AVPR1A | - | - | - | - | 3 | Gain | - |
AXDND1 | p.R318H | Missense | SNP | 0.500 | 2 | - | - |
AXL | - | - | - | - | 3 | Gain | - |
B3GALT1 | p.D246N | Missense | SNP | 0.473 | 2 | - | - |
B3GNT4 | - | - | - | - | 3 | Gain | - |
B3GNT8 | - | - | - | - | 3 | Gain | - |
B4GALNT1 | - | - | - | - | 3 | Gain | - |
B4GALNT3 | - | - | - | - | 3 | Gain | - |
B9D2 | - | - | - | - | 3 | Gain | - |
BATF | p.R37H | Missense | SNP | 0.447 | 2 | - | - |
BAX | - | - | - | - | 3 | Gain | - |
BAZ2A | - | - | - | - | 3 | Gain | - |
BBC3 | - | - | - | - | 3 | Gain | - |
BBS10 | - | - | - | - | 3 | Gain | - |
BCAM | - | - | - | - | 3 | Gain | - |
BCAT1 | - | - | - | - | 3 | Gain | - |
BCAT2 | - | - | - | - | 3 | Gain | - |
BCDIN3D | - | - | - | - | 3 | Gain | - |
BCKDHA | - | - | - | - | 3 | Gain | - |
BCL2L12 | - | - | - | - | 3 | Gain | - |
BCL2L14 | - | - | - | - | 3 | Gain | - |
BCL3 | - | - | - | - | 3 | Gain | - |
BCL7A | - | - | - | - | 3 | Gain | - |
BEND3 | p.G438S | Missense | SNP | 0.494 | 2 | - | - |
BEST3 | - | - | - | - | 3 | Gain | - |
BGN | p.N365D | Missense | SNP | 0.457 | ND | ND | - |
BHLHE41 | - | - | - | - | 3 | Gain | - |
BHMG1 | - | - | - | - | 3 | Gain | - |
BICD1 | - | - | - | - | 3 | Gain | - |
BICDL1 | - | - | - | - | 3 | Gain | - |
BICRA | - | - | - | - | 3 | Gain | - |
BIN2 | - | - | - | - | 3 | Gain | - |
BIRC8 | - | - | - | - | 3 | Gain | - |
BLOC1S1 | - | - | - | - | 3 | Gain | - |
BLOC1S1-RDH5 | - | - | - | - | 3 | Gain | - |
BLOC1S3 | - | - | - | - | 3 | Gain | - |
BLVRB | - | - | - | - | 3 | Gain | - |
BMP10 | p.W198C | Missense | SNP | 0.444 | 2 | - | - |
BOD1L1 | p.V667I | Missense | SNP | 0.529 | 2 | - | - |
BORCS5 | - | - | - | - | 3 | Gain | - |
BORCS6 | p.G118D | Missense | SNP | 0.503 | 2 | - | - |
BPTF | p.V1326A | Missense | SNP | 0.526 | 2 | - | - |
BRAF | p.V600E | Missense | SNP | 0.566 | 2 | - | - |
BRAP | - | - | - | - | 3 | Gain | - |
BRI3BP | - | - | - | - | 3 | Gain | - |
BRINP2 | p.V590A | Missense | SNP | 0.500 | 2 | - | - |
BRPF3 | p.A278T | Missense | SNP | 1.000 | 2 | - | - |
BRSK1 | p.X153_splice | Splice_Site | SNP | 0.426 | 3 | Gain | - |
BSPH1 | - | - | - | - | 3 | Gain | - |
BTBD11 | - | - | - | - | 3 | Gain | - |
BTG1 | - | - | - | - | 3 | Gain | - |
BTN3A1 | p.X340_splice | Splice_Site | SNP | 0.293 | 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 | - |
C19orf12 | - | - | - | - | 3 | Gain | - |
C19orf33 | - | - | - | - | 3 | Gain | - |
C19orf47 | - | - | - | - | 3 | Gain | - |
C19orf48 | - | - | - | - | 3 | Gain | - |
C19orf54 | - | - | - | - | 3 | Gain | - |
C19orf68 | p.C80S p.A312V | Missense Missense | SNP SNP | 0.612 0.495 | ND | ND | - |
C19orf73 | - | - | - | - | 3 | Gain | - |
C19orf81 | - | - | - | - | 3 | Gain | - |
C19orf84 | - | - | - | - | 3 | Gain | - |
C1QL4 | - | - | - | - | 3 | Gain | - |
C1R | - | - | - | - | 3 | Gain | - |
C1RL | - | - | - | - | 3 | Gain | - |
C1S | - | - | - | - | 3 | Gain | - |
C20orf144 | p.P56S | Missense | SNP | 0.474 | 2 | - | - |
C2CD4B | p.R330C | Missense | SNP | 0.480 | 2 | - | - |
C2CD5 | - | - | - | - | 3 | Gain | - |
C3AR1 | - | - | - | - | 3 | Gain | - |
C5AR1 | - | - | - | - | 3 | Gain | - |
C5AR2 | - | - | - | - | 3 | Gain | - |
C6orf118 | p.N279D | Missense | SNP | 0.444 | 2 | - | - |
C7orf61 | p.W21C | Missense | SNP | 0.388 | 2 | - | - |
CA11 | - | - | - | - | 3 | Gain | - |
CA5B | p.S6G | Missense | SNP | 0.296 | ND | ND | - |
CABP1 | - | - | - | - | 3 | Gain | - |
CABP4 | p.P80Q | Missense | SNP | 0.533 | 2 | - | - |
CABP5 | - | - | - | - | 3 | Gain | - |
CACNA1C | p.V372A p.P1803L | Missense Missense | SNP SNP | 0.576 0.642 | 3 | Gain | - |
CACNA1E | p.G1124C p.A1917T | Missense Missense | SNP SNP | 0.427 0.451 | 2 | - | - |
CACNA1I | p.R2078W | Missense | SNP | 0.535 | 2 | - | - |
CACNA2D4 | - | - | - | - | 3 | Gain | - |
CACNB3 | - | - | - | - | 3 | Gain | - |
CACNG3 | p.D88G | Missense | SNP | 0.449 | 2 | - | - |
CACNG6 | - | - | - | - | 3 | Gain | - |
CACNG7 | - | - | - | - | 3 | Gain | - |
CACNG8 | - | - | - | - | 3 | Gain | - |
CADM4 | - | - | - | - | 3 | Gain | - |
CALCOCO1 | - | - | - | - | 3 | Gain | - |
CALM3 | - | - | - | - | 3 | Gain | - |
CAMKK2 | - | - | - | - | 3 | Gain | - |
CAMSAP3 | p.A220T p.D443G p.A1223T | Missense Missense Missense | SNP SNP SNP | 0.317 0.474 0.513 | 2 | - | - |
CAND1 | - | - | - | - | 3 | Gain | - |
CAPN12 | - | - | - | - | 3 | Gain | - |
CAPNS1 | - | - | - | - | 3 | Gain | - |
CAPRIN2 | - | - | - | - | 3 | Gain | - |
CAPS2 | p.K294* | Nonsense | SNP | 0.320 | 3 | Gain | - |
CAPZA3 | - | - | - | - | 3 | Gain | - |
CARD8 | - | - | - | - | 3 | Gain | - |
CASC1 | - | - | - | - | 3 | Gain | - |
CATSPERG | - | - | - | - | 3 | Gain | - |
CBLC | - | - | - | - | 3 | Gain | - |
CBX5 | - | - | - | - | 3 | Gain | - |
CC2D2B | p.Q371H | Missense | SNP | 0.481 | 2 | - | - |
CCDC106 | p.E235K | Missense | SNP | 0.658 | 3 | Gain | - |
CCDC114 | p.R158C | Missense | SNP | 0.435 | 3 | Gain | - |
CCDC155 | - | - | - | - | 3 | Gain | - |
CCDC166 | p.R411W p.L409M | Missense Missense | SNP SNP | 0.502 0.511 | 2 | - | - |
CCDC168 | p.S2860T p.P1241Q | Missense Missense | SNP SNP | 0.533 0.459 | 2 | - | - |
CCDC184 | - | - | - | - | 3 | Gain | - |
CCDC38 | - | - | - | - | 3 | Gain | - |
CCDC57 | p.Q701K | Missense | SNP | 0.472 | 2 | - | - |
CCDC59 | - | - | - | - | 3 | Gain | - |
CCDC6 | p.R260C | Missense | SNP | 0.477 | 2 | - | - |
CCDC60 | - | - | - | - | 3 | Gain | - |
CCDC61 | - | - | - | - | 3 | Gain | - |
CCDC62 | - | - | - | - | 3 | Gain | - |
CCDC63 | - | - | - | - | 3 | Gain | - |
CCDC65 | - | - | - | - | 3 | Gain | - |
CCDC77 | - | - | - | - | 3 | Gain | - |
CCDC8 | - | - | - | - | 3 | Gain | - |
CCDC9 | - | - | - | - | 3 | Gain | - |
CCDC91 | - | - | - | - | 3 | Gain | - |
CCDC92 | - | - | - | - | 3 | Gain | - |
CCDC97 | - | - | - | - | 3 | Gain | - |
CCER1 | - | - | - | - | 3 | Gain | - |
CCER2 | - | - | - | - | 3 | Gain | - |
CCND1 | p.A246V | Missense | SNP | 0.584 | 2 | - | - |
CCND2 | - | - | - | - | 3 | Gain | - |
CCNE1 | - | - | - | - | 3 | Gain | - |
CCNT1 | - | - | - | - | 3 | Gain | - |
CCT2 | - | - | - | - | 3 | Gain | - |
CD163 | p.D253A | Missense | SNP | 0.299 | 3 | Gain | - |
CD163L1 | - | - | - | - | 3 | Gain | - |
CD177 | - | - | - | - | 3 | Gain | - |
CD19 | p.H218R | Missense | SNP | 0.581 | 2 | - | - |
CD22 | - | - | - | - | 3 | Gain | - |
CD27 | - | - | - | - | 3 | Gain | - |
CD33 | p.V39M | Missense | SNP | 0.741 | 3 | Gain | - |
CD37 | - | - | - | - | 3 | Gain | - |
CD3EAP | - | - | - | - | 3 | Gain | - |
CD4 | - | - | - | - | 3 | Gain | - |
CD5 | p.N371K | Missense | SNP | 0.426 | 2 | - | - |
CD63 | - | - | - | - | 3 | Gain | - |
CD69 | - | - | - | - | 3 | Gain | - |
CD79A | - | - | - | - | 3 | Gain | - |
CD9 | - | - | - | - | 3 | Gain | - |
CDC42EP5 | - | - | - | - | 3 | Gain | - |
CDC73 | p.K331Q | Missense | SNP | 0.474 | 2 | - | - |
CDCA3 | - | - | - | - | 3 | Gain | - |
CDH10 | p.R27K | Missense | SNP | 0.464 | 2 | - | - |
CDH11 | p.V597M | Missense | SNP | 0.504 | 2 | - | - |
CDH2 | p.G336R | Missense | SNP | 0.448 | 2 | - | - |
CDH9 | - | - | - | - | 3 | Gain | - |
CDK11A | - | - | - | - | 1 | Loss | - |
CDK11B | - | - | - | - | 1 | Loss | - |
CDK17 | - | - | - | - | 3 | Gain | - |
CDK2 | - | - | - | - | 3 | Gain | - |
CDK2AP1 | - | - | - | - | 3 | Gain | - |
CDK4 | - | - | - | - | 3 | Gain | - |
CDKL5 | p.G17R | Missense | SNP | 0.567 | ND | ND | - |
CDKN1B | - | - | - | - | 3 | Gain | - |
CDR2L | p.G293R | Missense | SNP | 0.325 | 2 | - | - |
CEACAM1 | - | - | - | - | 3 | Gain | - |
CEACAM16 | - | - | - | - | 3 | Gain | - |
CEACAM18 | - | - | - | - | 3 | Gain | - |
CEACAM19 | - | - | - | - | 3 | Gain | - |
CEACAM20 | - | - | - | - | 3 | Gain | - |
CEACAM21 | - | - | - | - | 3 | Gain | - |
CEACAM3 | - | - | - | - | 3 | Gain | - |
CEACAM4 | - | - | - | - | 3 | Gain | - |
CEACAM5 | - | - | - | - | 3 | Gain | - |
CEACAM6 | - | - | - | - | 3 | Gain | - |
CEACAM7 | - | - | - | - | 3 | Gain | - |
CEACAM8 | - | - | - | - | 3 | Gain | - |
CEBPA | - | - | - | - | 3 | Gain | - |
CEBPG | - | - | - | - | 3 | Gain | - |
CELA1 | - | - | - | - | 3 | Gain | - |
CELF1 | p.A309V | Missense | SNP | 0.486 | 2 | - | - |
CELSR1 | p.V320I | Missense | SNP | 0.572 | 2 | - | - |
CELSR3 | p.R3117W p.A2156G | Missense Missense | SNP SNP | 0.534 0.395 | 2 | - | - |
CEP128 | p.R232H | Missense | SNP | 0.467 | 2 | - | - |
CEP131 | p.R947Q | Missense | SNP | 0.534 | 2 | - | - |
CEP170B | p.P759L | Missense | SNP | 0.492 | 2 | - | - |
CEP290 | - | - | - | - | 3 | Gain | - |
CEP83 | - | - | - | - | 3 | Gain | - |
CEP89 | - | - | - | - | 3 | Gain | - |
CERS5 | - | - | - | - | 3 | Gain | - |
CFAP54 | - | - | - | - | 3 | Gain | - |
CFAP73 | - | - | - | - | 3 | Gain | - |
CGB1 | - | - | - | - | 3 | Gain | - |
CGB2 | - | - | - | - | 3 | Gain | - |
CHD4 | - | - | - | - | 3 | Gain | - |
CHD7 | p.R2027Q | Missense | SNP | 0.522 | 2 | - | - |
CHFR | - | - | - | - | 3 | Gain | - |
CHGB | p.P22S | Missense | SNP | 0.482 | 2 | - | - |
CHPT1 | - | - | - | - | 3 | Gain | - |
CHRD | p.T844I | Missense | SNP | 0.394 | 2 | - | - |
CHRNA10 | p.V226I | Missense | SNP | 0.489 | 2 | - | - |
CHST11 | - | - | - | - | 3 | Gain | - |
CHST12 | p.K297E | Missense | SNP | 0.552 | 2 | - | - |
CHST8 | - | - | - | - | 3 | Gain | - |
CHSY3 | p.A429S | Missense | SNP | 0.522 | 2 | - | - |
CIC | p.P833S | Missense | SNP | 0.652 | 3 | Gain | - |
CIT | - | - | - | - | 3 | Gain | - |
CKAP4 | - | - | - | - | 3 | Gain | - |
CKAP5 | p.D1783N | Missense | SNP | 0.452 | 2 | - | - |
CKM | - | - | - | - | 3 | Gain | - |
CLASP1 | p.P811H | Missense | SNP | 0.481 | 2 | - | - |
CLASRP | - | - | - | - | 3 | Gain | - |
CLC | - | - | - | - | 3 | Gain | - |
CLCN3 | p.V595A | Missense | SNP | 0.520 | 2 | - | - |
CLDND2 | - | - | - | - | 3 | Gain | - |
CLEC11A | - | - | - | - | 3 | Gain | - |
CLEC12A | - | - | - | - | 3 | Gain | - |
CLEC12B | - | - | - | - | 3 | Gain | - |
CLEC14A | p.E427K | Missense | SNP | 0.515 | 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 | - |
CLEC4M | p.K120T | Missense | SNP | 0.462 | 2 | - | - |
CLEC6A | - | - | - | - | 3 | Gain | - |
CLEC7A | - | - | - | - | 3 | Gain | - |
CLEC9A | - | - | - | - | 3 | Gain | - |
CLECL1 | - | - | - | - | 3 | Gain | - |
CLIP1 | - | - | - | - | 3 | Gain | - |
CLIP3 | - | - | - | - | 3 | Gain | - |
CLLU1OS | - | - | - | - | 3 | Gain | - |
CLPTM1 | - | - | - | - | 3 | Gain | - |
CLSTN3 | - | - | - | - | 3 | Gain | - |
CMAS | - | - | - | - | 3 | Gain | - |
CMKLR1 | - | - | - | - | 3 | Gain | - |
CMTM4 | p.M19T | Missense | SNP | 0.366 | 2 | - | - |
CNFN | - | - | - | - | 3 | Gain | - |
CNOT2 | - | - | - | - | 3 | Gain | - |
CNOT3 | - | - | - | - | 3 | Gain | - |
CNPY2 | - | - | - | - | 3 | Gain | - |
CNTD2 | - | - | - | - | 3 | Gain | - |
CNTN1 | - | - | - | - | 3 | Gain | - |
CNTN3 | p.K848T | Missense | SNP | 0.405 | 2 | - | - |
CNTN6 | p.E722D | Missense | SNP | 0.478 | 2 | - | - |
CNTNAP1 | p.M236V | Missense | SNP | 0.411 | 2 | - | - |
CNTNAP2 | - | - | - | - | 4 | Gain | - |
CNTRL | p.M668T | Missense | SNP | 0.526 | 2 | - | - |
COG7 | p.D679G | Missense | SNP | 0.508 | 2 | - | - |
COL1A1 | p.R1168H | Missense | SNP | 0.464 | 2 | - | - |
COL25A1 | p.G473V | Missense | SNP | 0.444 | 2 | - | - |
COL2A1 | - | - | - | - | 3 | Gain | - |
COL3A1 | - | - | - | - | 3 | Gain | - |
COL5A2 | - | - | - | - | 3 | Gain | - |
COL7A1 | p.T334A | Missense | SNP | 0.462 | 2 | - | - |
COPS7A | - | - | - | - | 3 | Gain | - |
COPZ1 | - | - | - | - | 3 | Gain | - |
COQ10A | - | - | - | - | 3 | Gain | - |
COQ5 | - | - | - | - | 3 | Gain | - |
COQ8B | - | - | - | - | 3 | Gain | - |
CORO1C | - | - | - | - | 3 | Gain | - |
COX14 | - | - | - | - | 3 | Gain | - |
COX6A1 | - | - | - | - | 3 | Gain | - |
COX6B1 | - | - | - | - | 3 | Gain | - |
COX6B2 | - | - | - | - | 3 | Gain | - |
COX7A1 | - | - | - | - | 3 | Gain | - |
CPB1 | p.R152H p.G198E | Missense Missense | SNP SNP | 0.562 0.506 | 2 | - | - |
CPLANE1 | - | - | - | - | 2 | - | NUP155--CPLANE1 |
CPM | - | - | - | - | 3 | Gain | - |
CPNE8 | - | - | - | - | 3 | Gain | - |
CPSF6 | - | - | - | - | 3 | Gain | - |
CPT1A | p.R517M | Missense | SNP | 0.524 | 2 | - | - |
CPT1C | - | - | - | - | 3 | Gain | - |
CPXM1 | p.R383* | Nonsense | SNP | 0.476 | 2 | - | - |
CPXM2 | p.G204V | Missense | SNP | 0.418 | 2 | - | - |
CRACR2A | p.A595T | Missense | SNP | 0.651 | 3 | Gain | - |
CRADD | - | - | - | - | 3 | Gain | - |
CRAMP1 | p.F229V | Missense | SNP | 0.520 | 2 | - | - |
CREBL2 | - | - | - | - | 3 | Gain | - |
CRX | - | - | - | - | 3 | Gain | - |
CRY1 | p.G377* | Nonsense | SNP | 0.323 | 3 | Gain | - |
CS | - | - | - | - | 3 | Gain | - |
CSAD | - | - | - | - | 3 | Gain | - |
CSNK1G1 | p.F462I | Missense | SNP | 0.530 | 2 | - | - |
CSRNP2 | - | - | - | - | 3 | Gain | - |
CSRP2 | - | - | - | - | 3 | Gain | - |
CTDSP2 | - | - | - | - | 3 | Gain | - |
CTSG | p.A76T | Missense | SNP | 0.405 | 2 | - | - |
CTTNBP2 | p.G1058* | Nonsense | SNP | 0.516 | 2 | - | - |
CTU1 | - | - | - | - | 3 | Gain | - |
CUBN | p.L3096V | Missense | SNP | 0.585 | 2 | - | - |
CUX2 | - | - | - | - | 3 | Gain | - |
CXCL17 | - | - | - | - | 3 | Gain | - |
CYP26C1 | p.A480V | Missense | SNP | 0.505 | 2 | - | - |
CYP27B1 | - | - | - | - | 3 | Gain | - |
CYP2A13 | - | - | - | - | 3 | Gain | - |
CYP2A6 | - | - | - | - | 3 | Gain | - |
CYP2A7 | - | - | - | - | 3 | Gain | - |
CYP2B6 | - | - | - | - | 3 | Gain | - |
CYP2F1 | - | - | - | - | 3 | Gain | - |
CYP2S1 | - | - | - | - | 3 | Gain | - |
CYTH2 | - | - | - | - | 3 | Gain | - |
DACT3 | - | - | - | - | 3 | Gain | - |
DAO | - | - | - | - | 3 | Gain | - |
DAXX | p.R256H | Missense | SNP | 0.473 | 2 | - | - |
DAZAP2 | - | - | - | - | 3 | Gain | - |
DBP | - | - | - | - | 3 | Gain | - |
DBX2 | - | - | - | - | 3 | Gain | - |
DCD | - | - | - | - | 3 | Gain | - |
DCN | - | - | - | - | 3 | Gain | - |
DCP1B | - | - | - | - | 3 | Gain | - |
DCTN2 | - | - | - | - | 3 | Gain | - |
DDIT3 | - | - | - | - | 3 | Gain | - |
DDN | - | - | - | - | 3 | Gain | - |
DDT | - | - | - | - | 1 | Loss | - |
DDTL | - | - | - | - | 1 | Loss | - |
DDX11 | - | - | - | - | 3 | Gain | - |
DDX18 | p.L528F | Missense | SNP | 0.485 | 2 | - | - |
DDX23 | - | - | - | - | 3 | Gain | - |
DDX47 | - | - | - | - | 3 | Gain | - |
DDX51 | - | - | - | - | 3 | Gain | - |
DDX54 | - | - | - | - | 3 | Gain | - |
DDX55 | - | - | - | - | 3 | Gain | - |
DDX60L | p.R1050I | Missense | SNP | 0.476 | 2 | - | - |
DECR2 | p.P283S | Missense | SNP | 0.508 | 2 | - | - |
DEDD2 | - | - | - | - | 3 | Gain | - |
DEF6 | p.R449W | Missense | SNP | 1.000 | 2 | - | - |
DEF8 | p.W18* | Nonsense | SNP | 0.541 | 2 | - | - |
DEFB103A | - | - | - | - | 1 | Loss | - |
DEFB103B | - | - | - | - | 1 | Loss | - |
DEFB104A | - | - | - | - | 1 | Loss | - |
DEFB104B | - | - | - | - | 1 | Loss | - |
DEFB105A | - | - | - | - | 1 | Loss | - |
DEFB105B | - | - | - | - | 1 | Loss | - |
DEFB106A | - | - | - | - | 1 | Loss | - |
DEFB106B | - | - | - | - | 1 | Loss | - |
DEFB107A | - | - | - | - | 1 | Loss | - |
DEFB107B | - | - | - | - | 1 | Loss | - |
DEFB4A | - | - | - | - | 1 | Loss | - |
DEFB4B | - | - | - | - | 1 | Loss | - |
DENND1C | p.V114L | Missense | SNP | 0.476 | 2 | - | - |
DENND5B | - | - | - | - | 3 | Gain | - |
DENR | - | - | - | - | 3 | Gain | - |
DEPDC4 | - | - | - | - | 3 | Gain | - |
DERA | - | - | - | - | 3 | Gain | - |
DGKA | - | - | - | - | 3 | Gain | - |
DGKI | p.G86S | Missense | SNP | 0.660 | 2 | - | - |
DHDH | - | - | - | - | 3 | Gain | - |
DHH | - | - | - | - | 3 | Gain | - |
DHRS7B | p.S193G | Missense | SNP | 0.500 | 2 | - | - |
DHX34 | - | - | - | - | 3 | Gain | - |
DHX37 | - | - | - | - | 3 | Gain | - |
DIABLO | - | - | - | - | 3 | Gain | - |
DIP2B | - | - | - | - | 3 | Gain | - |
DIP2C | p.V384G | Missense | SNP | 0.503 | 2 | - | - |
DIRC1 | - | - | - | - | 3 | Gain | - |
DKK2 | p.I25T | Missense | SNP | 0.439 | 2 | - | - |
DKKL1 | - | - | - | - | 3 | Gain | - |
DLL3 | - | - | - | - | 3 | Gain | - |
DMAC2 | - | - | - | - | 3 | Gain | - |
DMD | p.R1459* | Nonsense | SNP | 0.565 | ND | ND | - |
DMKN | - | - | - | - | 3 | Gain | - |
DMPK | - | - | - | - | 3 | Gain | - |
DMRTC2 | - | - | - | - | 3 | Gain | - |
DMWD | - | - | - | - | 3 | Gain | - |
DNA2 | p.P830S | Missense | SNP | 0.429 | 2 | - | - |
DNAAF3 | - | - | - | - | 3 | Gain | - |
DNAH10 | p.P515H p.L1962M | Missense Missense | SNP SNP | 0.255 0.696 | 3 | Gain | - |
DNAH17 | p.P3540S p.A3477V | Missense Missense | SNP SNP | 0.500 0.493 | 2 | - | - |
DNAH8 | p.E2116K | Missense | SNP | 0.480 | 2 | - | - |
DNAJB5 | p.G422D | Missense | SNP | 0.444 | 2 | - | - |
DNAJC14 | - | - | - | - | 3 | Gain | - |
DNAJC22 | - | - | - | - | 3 | Gain | - |
DNAJC3 | p.R76W | Missense | SNP | 0.574 | 2 | - | - |
DNM1L | - | - | - | - | 3 | Gain | - |
DNMBP | p.L626R | Missense | SNP | 0.483 | 2 | - | - |
DNMT3L | p.G34D | Missense | SNP | 0.603 | 2 | - | - |
DOCK2 | p.A901V | Missense | SNP | 0.616 | 2 | - | - |
DOCK7 | p.H2088R | Missense | SNP | 0.426 | 2 | - | - |
DOPEY2 | p.E1623A | Missense | SNP | 0.492 | ND | ND | - |
DPF1 | - | - | - | - | 3 | Gain | - |
DPM1 | p.P125S | Missense | SNP | 0.524 | 2 | - | - |
DPPA3 | - | - | - | - | 3 | Gain | - |
DPRX | - | - | - | - | 3 | Gain | - |
DPY19L2 | - | - | - | - | 3 | Gain | - |
DPY19L3 | - | - | - | - | 3 | Gain | - |
DPYSL3 | p.F588L | Missense | SNP | 0.413 | 2 | - | - |
DRAM1 | - | - | - | - | 3 | Gain | - |
DRAM2 | p.L11I | Missense | SNP | 0.462 | 2 | - | - |
DRD5 | p.C308* | Nonsense | SNP | 0.376 | 2 | - | - |
DTX1 | - | - | - | - | 3 | Gain | - |
DTX3 | - | - | - | - | 3 | Gain | - |
DUOXA1 | p.S322* | Nonsense | SNP | 0.465 | 2 | - | - |
DUSP16 | - | - | - | - | 3 | Gain | - |
DUSP6 | - | - | - | - | 3 | Gain | - |
DVL1 | p.P104L | Missense | SNP | 0.399 | 2 | - | - |
DVL2 | p.Q500R | Missense | SNP | 0.487 | 2 | - | - |
DVL3 | p.W450R | Missense | SNP | 0.420 | 2 | - | - |
DYNLL1 | - | - | - | - | 3 | Gain | - |
DYRK1B | - | - | - | - | 3 | Gain | - |
DYRK2 | - | - | - | - | 3 | Gain | - |
DYRK4 | p.E78D | Missense | SNP | 0.713 | 3 | Gain | - |
DYSF | p.P239H | Missense | SNP | 0.547 | 2 | - | - |
E2F7 | - | - | - | - | 3 | Gain | - |
ECE2 | p.G715D | Missense | SNP | 0.537 | 2 | - | - |
ECH1 | - | - | - | - | 3 | Gain | - |
EDNRB | p.A133V | Missense | SNP | 0.448 | 2 | - | - |
EEA1 | - | - | - | - | 3 | Gain | - |
EED | p.A41T | Missense | SNP | 0.448 | 2 | - | - |
EEF1AKMT3 | - | - | - | - | 3 | Gain | - |
EFCAB13 | p.D610N | Missense | SNP | 0.326 | 2 | - | - |
EFHC2 | p.X681_splice | Splice_Site | SNP | 0.472 | ND | ND | - |
EGLN2 | - | - | - | - | 3 | Gain | - |
EGR3 | p.R264Q | Missense | SNP | 0.449 | 2 | - | - |
EHD2 | - | - | - | - | 3 | Gain | - |
EHHADH | p.X25_splice | Splice_Site | SNP | 0.422 | 2 | - | - |
EID2 | - | - | - | - | 3 | Gain | - |
EID2B | - | - | - | - | 3 | Gain | - |
EID3 | - | - | - | - | 3 | Gain | - |
EIF2B1 | - | - | - | - | 3 | Gain | - |
EIF2B2 | p.P296L | Missense | SNP | 0.446 | 2 | - | - |
EIF2S3B | - | - | - | - | 3 | Gain | - |
EIF3K | - | - | - | - | 3 | Gain | - |
EIF4B | - | - | - | - | 3 | Gain | - |
ELAVL2 | p.I214T | Missense | SNP | 0.477 | 2 | - | - |
ELF2 | p.R310* | Nonsense | SNP | 0.407 | 2 | - | - |
ELK3 | - | - | - | - | 3 | Gain | - |
ELSPBP1 | - | - | - | - | 3 | Gain | - |
EMC10 | - | - | - | - | 3 | Gain | - |
EMG1 | - | - | - | - | 3 | Gain | - |
EMILIN3 | p.G496S | Missense | SNP | 0.516 | 2 | - | - |
EML2 | - | - | - | - | 3 | Gain | - |
EMP1 | - | - | - | - | 3 | Gain | - |
EMP3 | - | - | - | - | 3 | Gain | - |
ENDOU | - | - | - | - | 3 | Gain | - |
ENGASE | p.V275A | Missense | SNP | 0.356 | 2 | - | - |
ENO1 | p.R183H | Missense | SNP | 0.561 | 2 | - | - |
ENO2 | - | - | - | - | 3 | Gain | - |
EP400 | - | - | - | - | 3 | Gain | - |
EPAS1 | p.D139N | Missense | SNP | 0.508 | 2 | - | - |
EPN1 | p.T400M | Missense | SNP | 0.321 | 3 | Gain | - |
EPN3 | p.R194C | Missense | SNP | 0.457 | 2 | - | - |
EPPK1 | p.L617R | Missense | SNP | 0.555 | 2 | - | - |
EPS8 | - | - | - | - | 3 | Gain | - |
EPS8L1 | - | - | - | - | 3 | Gain | - |
EPYC | - | - | - | - | 3 | Gain | - |
ERBB3 | - | - | - | - | 3 | Gain | - |
ERC1 | - | - | - | - | 3 | Gain | - |
ERCC1 | - | - | - | - | 3 | Gain | - |
ERCC2 | - | - | - | - | 3 | Gain | - |
ERCC6L | p.S1069N | Missense | SNP | 0.444 | ND | ND | - |
ERF | - | - | - | - | 3 | Gain | - |
ERGIC2 | - | - | - | - | 3 | Gain | - |
ERICH3 | p.R1209H | Missense | SNP | 0.547 | 2 | - | - |
ERICH4 | - | - | - | - | 3 | Gain | - |
ERP27 | - | - | - | - | 3 | Gain | - |
ERP29 | - | - | - | - | 3 | Gain | - |
ERVV-1 | - | - | - | - | 3 | Gain | - |
ERVV-2 | - | - | - | - | 3 | Gain | - |
ESPL1 | - | - | - | - | 3 | Gain | - |
ESYT1 | - | - | - | - | 3 | Gain | - |
ETFB | - | - | - | - | 3 | Gain | - |
ETFBKMT | - | - | - | - | 3 | Gain | - |
ETFRF1 | - | - | - | - | 3 | Gain | - |
ETHE1 | - | - | - | - | 3 | Gain | - |
ETNK1 | - | - | - | - | 3 | Gain | - |
ETV2 | - | - | - | - | 3 | Gain | - |
ETV6 | - | - | - | - | 3 | Gain | - |
EVI5L | p.E214D | Missense | SNP | 0.405 | 2 | - | - |
EXOC3 | p.R168H | Missense | SNP | 0.483 | 2 | - | - |
EXOC3L2 | - | - | - | - | 3 | Gain | - |
EXOSC5 | - | - | - | - | 3 | Gain | - |
EYA1 | p.A411D | Missense | SNP | 0.457 | 2 | - | - |
F2RL1 | p.G44D | Missense | SNP | 0.475 | 2 | - | - |
F8 | p.S984L | Missense | SNP | 0.506 | ND | ND | - |
FAAP24 | - | - | - | - | 3 | Gain | - |
FABP5 | p.C47R | Missense | SNP | 0.452 | 2 | - | - |
FAIM2 | - | - | - | - | 3 | Gain | - |
FAM13C | p.X412_splice | Splice_Site | SNP | 0.513 | 2 | - | - |
FAM186A | - | - | - | - | 3 | Gain | - |
FAM186B | - | - | - | - | 3 | Gain | - |
FAM187B | - | - | - | - | 3 | Gain | - |
FAM19A2 | - | - | - | - | 3 | Gain | - |
FAM216A | - | - | - | - | 3 | Gain | - |
FAM222A | - | - | - | - | 3 | Gain | - |
FAM234B | - | - | - | - | 3 | Gain | - |
FAM24A | p.P57T | Missense | SNP | 0.566 | 2 | - | - |
FAM47B | p.R36M | Missense | SNP | 0.459 | ND | ND | - |
FAM71C | - | - | - | - | 3 | Gain | - |
FAM71E1 | - | - | - | - | 3 | Gain | - |
FAM71E2 | - | - | - | - | 3 | Gain | - |
FAM81B | p.S412T | Missense | SNP | 0.417 | 2 | - | - |
FAM83E | - | - | - | - | 3 | Gain | - |
FAM83F | p.W263R | Missense | SNP | 0.491 | 2 | - | - |
FAM98C | - | - | - | - | 3 | Gain | - |
FAR2 | - | - | - | - | 3 | Gain | - |
FAT2 | p.Y2416C | Missense | SNP | 0.461 | 2 | - | - |
FAT3 | p.S3314G | Missense | SNP | 0.508 | 2 | - | - |
FAT4 | p.I4742M | Missense | SNP | 0.490 | 2 | - | - |
FBL | - | - | - | - | 3 | Gain | - |
FBN2 | p.T235M | Missense | SNP | 0.498 | 2 | - | - |
FBRSL1 | - | - | - | - | 3 | Gain | - |
FBXL14 | - | - | - | - | 3 | Gain | - |
FBXO17 | - | - | - | - | 3 | Gain | - |
FBXO21 | - | - | - | - | 3 | Gain | - |
FBXO27 | - | - | - | - | 3 | Gain | - |
FBXO34 | p.E100K | Missense | SNP | 0.477 | 2 | - | - |
FBXO46 | - | - | - | - | 3 | Gain | - |
FBXW8 | - | - | - | - | 3 | Gain | - |
FCAR | - | - | - | - | 3 | Gain | - |
FCGBP | - | - | - | - | 3 | Gain | - |
FCGRT | - | - | - | - | 3 | Gain | - |
FCHO2 | p.S533G | Missense | SNP | 0.500 | 2 | - | - |
FERD3L | p.R47* | Nonsense | SNP | 0.529 | 2 | - | - |
FFAR1 | - | - | - | - | 3 | Gain | - |
FFAR2 | p.I205V | Missense | SNP | 0.621 | 3 | Gain | - |
FFAR3 | - | - | - | - | 3 | Gain | - |
FGD4 | - | - | - | - | 3 | Gain | - |
FGD6 | - | - | - | - | 3 | Gain | - |
FGF21 | - | - | - | - | 3 | Gain | - |
FGF23 | - | - | - | - | 3 | Gain | - |
FGF6 | - | - | - | - | 3 | Gain | - |
FGFR1OP2 | - | - | - | - | 3 | Gain | - |
FICD | - | - | - | - | 3 | Gain | - |
FIGNL2 | - | - | - | - | 3 | Gain | - |
FIZ1 | - | - | - | - | 3 | Gain | - |
FKBP11 | - | - | - | - | 3 | Gain | - |
FKBP4 | - | - | - | - | 3 | Gain | - |
FKRP | - | - | - | - | 3 | Gain | - |
FLNB | p.C1751* | Nonsense | SNP | 0.461 | 2 | - | - |
FLNC | p.G711D | Missense | SNP | 0.461 | 2 | - | - |
FLRT2 | - | - | - | - | 3 | Gain | - |
FLT3LG | - | - | - | - | 3 | Gain | - |
FMNL3 | p.X42_splice | Splice_Site | SNP | 0.302 | 3 | Gain | - |
FNDC3B | p.N1001K | Missense | SNP | 0.388 | 2 | - | - |
FOSB | - | - | - | - | 3 | Gain | - |
FOXA3 | - | - | - | - | 3 | Gain | - |
FOXH1 | p.G200V | Missense | SNP | 0.485 | 2 | - | - |
FOXJ2 | - | - | - | - | 3 | Gain | - |
FOXM1 | - | - | - | - | 3 | Gain | - |
FOXN4 | - | - | - | - | 3 | Gain | - |
FPR1 | - | - | - | - | 3 | Gain | - |
FPR2 | - | - | - | - | 3 | Gain | - |
FPR3 | p.R137H | Missense | SNP | 0.330 | 3 | Gain | - |
FREM3 | p.D921G | Missense | SNP | 0.429 | 2 | - | - |
FRMD4A | p.T732I | Missense | SNP | 0.513 | 2 | - | - |
FRS2 | - | - | - | - | 3 | Gain | - |
FTL | - | - | - | - | 3 | Gain | - |
FUOM | p.E121G | Missense | SNP | 0.426 | 2 | - | - |
FUT1 | - | - | - | - | 3 | Gain | - |
FUT2 | - | - | - | - | 3 | Gain | - |
FUZ | - | - | - | - | 3 | Gain | - |
FXYD1 | - | - | - | - | 3 | Gain | - |
FXYD3 | - | - | - | - | 3 | Gain | - |
FXYD5 | - | - | - | - | 3 | Gain | - |
FXYD7 | - | - | - | - | 3 | Gain | - |
FZD10 | - | - | - | - | 3 | Gain | - |
GABARAPL1 | - | - | - | - | 3 | Gain | - |
GABRA3 | p.R83Q | Missense | SNP | 0.488 | ND | ND | - |
GABRB1 | p.T201I | Missense | SNP | 0.456 | 2 | - | - |
GAK | p.A773V | Missense | SNP | 0.448 | 2 | - | - |
GALNT6 | - | - | - | - | 3 | Gain | - |
GALNT8 | - | - | - | - | 3 | Gain | - |
GALNT9 | p.Q152H | Missense | SNP | 0.290 | 3 | Gain | - |
GALP | - | - | - | - | 3 | Gain | - |
GAPDH | - | - | - | - | 3 | Gain | - |
GAPDHS | - | - | - | - | 3 | Gain | - |
GAS2L3 | - | - | - | - | 3 | Gain | - |
GATC | - | - | - | - | 3 | Gain | - |
GATM | p.G9S | Missense | SNP | 0.422 | 2 | - | - |
GBF1 | p.K1112E | Missense | SNP | 0.388 | 2 | - | - |
GCN1 | - | - | - | - | 3 | Gain | - |
GDAP1L1 | p.P16S | Missense | SNP | 0.320 | 2 | - | - |
GDF10 | p.R277C | Missense | SNP | 0.553 | 2 | - | - |
GDF11 | - | - | - | - | 3 | Gain | - |
GDF3 | - | - | - | - | 3 | Gain | - |
GEMIN7 | - | - | - | - | 3 | Gain | - |
GFOD1 | p.P284Q | Missense | SNP | 0.417 | 2 | - | - |
GFRA4 | p.L68P | Missense | SNP | 0.549 | 2 | - | - |
GFY | - | - | - | - | 3 | Gain | - |
GGN | - | - | - | - | 3 | Gain | - |
GIPR | - | - | - | - | 3 | Gain | - |
GIT2 | - | - | - | - | 3 | Gain | - |
GJC2 | p.R104H | Missense | SNP | 0.433 | 2 | - | - |
GLI1 | - | - | - | - | 3 | Gain | - |
GLIPR1 | - | - | - | - | 3 | Gain | - |
GLIPR1L1 | - | - | - | - | 3 | Gain | - |
GLIPR1L2 | - | - | - | - | 3 | Gain | - |
GLS2 | - | - | - | - | 3 | Gain | - |
GLT1D1 | - | - | - | - | 3 | Gain | - |
GLT8D1 | - | - | - | - | 3 | Gain | - |
GLT8D2 | - | - | - | - | 3 | Gain | - |
GLTP | - | - | - | - | 3 | Gain | - |
GLUD1 | - | - | - | - | 1 | Loss | - |
GMEB2 | p.G484C | Missense | SNP | 0.521 | 2 | - | - |
GMFG | - | - | - | - | 3 | Gain | - |
GNA15 | p.V207M p.L374R | Missense Missense | SNP SNP | 0.470 0.427 | 2 | - | - |
GNAQ | p.T54M | Missense | SNP | 0.468 | 2 | - | - |
GNAS | p.S237N | Missense | SNP | 0.479 | 2 | - | - |
GNB3 | - | - | - | - | 3 | Gain | - |
GNG8 | - | - | - | - | 3 | Gain | - |
GNL3 | - | - | - | - | 3 | Gain | - |
GNPTAB | - | - | - | - | 3 | Gain | - |
GNS | - | - | - | - | 3 | Gain | - |
GOLGA3 | - | - | - | - | 3 | Gain | - |
GOLGB1 | p.A491T | Missense | SNP | 0.554 | 2 | - | - |
GOLT1B | - | - | - | - | 3 | Gain | - |
GP6 | - | - | - | - | 3 | Gain | - |
GPATCH1 | - | - | - | - | 3 | Gain | - |
GPATCH8 | p.R859H | Missense | SNP | 0.494 | 2 | - | - |
GPC5 | - | - | - | - | 3 | Gain | - |
GPC6 | - | - | - | - | 3 | Gain | - |
GPD1 | - | - | - | - | 3 | Gain | - |
GPI | - | - | - | - | 3 | Gain | - |
GPN3 | - | - | - | - | 3 | Gain | - |
GPR101 | p.S331R | Missense | SNP | 0.407 | ND | ND | - |
GPR141 | p.K261E | Missense | SNP | 0.464 | 2 | - | - |
GPR162 | p.G376* | Nonsense | SNP | 0.625 | 3 | Gain | - |
GPR182 | - | - | - | - | 3 | Gain | - |
GPR19 | - | - | - | - | 3 | Gain | - |
GPR32 | - | - | - | - | 3 | Gain | - |
GPR4 | - | - | - | - | 3 | Gain | - |
GPR42 | - | - | - | - | 3 | Gain | - |
GPR63 | p.P280T | Missense | SNP | 0.518 | 2 | - | - |
GPR84 | - | - | - | - | 3 | Gain | - |
GPRC5A | - | - | - | - | 3 | Gain | - |
GPRC5D | - | - | - | - | 3 | Gain | - |
GRAMD1A | - | - | - | - | 3 | Gain | - |
GRASP | - | - | - | - | 3 | Gain | - |
GREB1 | p.A197T | Missense | SNP | 0.480 | 2 | - | - |
GRIA1 | p.R136H | Missense | SNP | 0.484 | 2 | - | - |
GRIK3 | p.A839V | Missense | SNP | 0.513 | 2 | - | - |
GRIK5 | - | - | - | - | 3 | Gain | - |
GRIN2B | - | - | - | - | 3 | Gain | - |
GRIN2D | - | - | - | - | 3 | Gain | - |
GRIP1 | - | - | - | - | 3 | Gain | - |
GRWD1 | - | - | - | - | 3 | Gain | - |
GSG1 | - | - | - | - | 3 | Gain | - |
GSK3A | - | - | - | - | 3 | Gain | - |
GSTM2 | p.Y138H | Missense | SNP | 0.383 | 2 | - | - |
GSTT2 | - | - | - | - | 1 | Loss | - |
GSTT2B | - | - | - | - | 1 | Loss | - |
GTF2H3 | - | - | - | - | 3 | Gain | - |
GTF3C1 | p.R160M | Missense | SNP | 0.559 | 2 | - | - |
GTPBP8 | p.R188M | Missense | SNP | 0.563 | 2 | - | - |
GTSF1 | - | - | - | - | 3 | Gain | - |
GUCA1C | p.V206A | Missense | SNP | 0.514 | 2 | - | - |
GUCY2C | p.V621I | Missense | SNP | 0.649 | 3 | Gain | - |
GULP1 | - | - | - | - | 3 | Gain | - |
GXYLT1 | - | - | - | - | 3 | Gain | - |
GYS1 | - | - | - | - | 3 | Gain | - |
GYS2 | - | - | - | - | 3 | Gain | - |
H1FNT | - | - | - | - | 3 | Gain | - |
H2AFJ | - | - | - | - | 3 | Gain | - |
H3F3C | - | - | - | - | 3 | Gain | - |
H6PD | p.H354R | Missense | SNP | 0.474 | 2 | - | - |
HAL | - | - | - | - | 3 | Gain | - |
HAMP | - | - | - | - | 3 | Gain | - |
HAND2 | p.X186_splice | Splice_Site | SNP | 0.451 | 2 | - | - |
HAS1 | p.A158T | Missense | SNP | 0.320 | 3 | Gain | - |
HAUS5 | - | - | - | - | 3 | Gain | - |
HCAR1 | - | - | - | - | 3 | Gain | - |
HCAR2 | - | - | - | - | 3 | Gain | - |
HCAR3 | - | - | - | - | 3 | Gain | - |
HCFC1R1 | p.Q5* | Nonsense | SNP | 0.493 | 2 | - | - |
HCFC2 | - | - | - | - | 3 | Gain | - |
HCST | - | - | - | - | 3 | Gain | - |
HDAC7 | - | - | - | - | 3 | Gain | - |
HDX | p.K628* p.V105A | Nonsense Missense | SNP SNP | 0.466 0.474 | ND | ND | - |
HEBP1 | - | - | - | - | 3 | Gain | - |
HECTD4 | p.A3193V | Missense | SNP | 0.656 | 3 | Gain | - |
HELB | - | - | - | - | 3 | Gain | - |
HIF3A | - | - | - | - | 3 | Gain | - |
HIGD1C | - | - | - | - | 3 | Gain | - |
HIP1R | - | - | - | - | 3 | Gain | - |
HIPK4 | p.R63* | Nonsense | SNP | 0.639 | 3 | Gain | - |
HIST3H2A | p.G38C | Missense | SNP | 0.551 | 2 | - | - |
HIST4H4 | - | - | - | - | 3 | Gain | - |
HKR1 | - | - | - | - | 3 | Gain | - |
HMGA2 | - | - | - | - | 3 | Gain | - |
HNF1A | - | - | - | - | 3 | Gain | - |
HNRNPA1 | - | - | - | - | 3 | Gain | - |
HNRNPL | p.A37V | Missense | SNP | 0.313 | 3 | Gain | - |
HNRNPUL1 | - | - | - | - | 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 | - |
HP | p.V44M | Missense | SNP | 0.500 | 2 | - | - |
HPD | - | - | - | - | 3 | Gain | - |
HPN | - | - | - | - | 3 | Gain | - |
HRC | - | - | - | - | 3 | Gain | - |
HRK | - | - | - | - | 3 | Gain | - |
HSD17B14 | - | - | - | - | 3 | Gain | - |
HSD17B6 | - | - | - | - | 3 | Gain | - |
HSP90AB1 | p.V656L | Missense | SNP | 1.000 | 2 | - | - |
HSP90B1 | - | - | - | - | 3 | Gain | - |
HSPB6 | - | - | - | - | 3 | Gain | - |
HSPB8 | - | - | - | - | 3 | Gain | - |
HSPBP1 | - | - | - | - | 3 | Gain | - |
HTR1F | p.A73V | Missense | SNP | 0.517 | 2 | - | - |
HTR3A | p.R56H | Missense | SNP | 0.475 | 2 | - | - |
HVCN1 | - | - | - | - | 3 | Gain | - |
IAPP | - | - | - | - | 3 | Gain | - |
IFFO1 | - | - | - | - | 3 | Gain | - |
IFNG | - | - | - | - | 3 | Gain | - |
IFNL1 | - | - | - | - | 3 | Gain | - |
IFNL2 | - | - | - | - | 3 | Gain | - |
IFNL3 | - | - | - | - | 3 | Gain | - |
IFT80 | p.A345V | Missense | SNP | 0.500 | 2 | - | - |
IFT81 | - | - | - | - | 3 | Gain | - |
IGF1 | - | - | - | - | 3 | Gain | - |
IGFBP6 | p.S144A | Missense | SNP | 0.583 | 3 | Gain | - |
IGFL1 | - | - | - | - | 3 | Gain | - |
IGFL2 | - | - | - | - | 3 | Gain | - |
IGFL3 | - | - | - | - | 3 | Gain | - |
IGFL4 | - | - | - | - | 3 | Gain | - |
IGFLR1 | - | - | - | - | 3 | Gain | - |
IGKV1-12 | p.Q28E | Missense | SNP | 0.193 | ND | ND | - |
IGKV1D-8 | p.Q49K | Missense | SNP | 0.524 | ND | ND | - |
IGLON5 | - | - | - | - | 3 | Gain | - |
IGSF23 | - | - | - | - | 3 | Gain | - |
IGSF9B | p.M330I | Missense | SNP | 0.574 | 2 | - | - |
IKBIP | - | - | - | - | 3 | Gain | - |
IKZF4 | - | - | - | - | 3 | Gain | - |
IL11 | - | - | - | - | 3 | Gain | - |
IL1RAPL2 | p.R147H | Missense | SNP | 0.475 | ND | ND | - |
IL22 | - | - | - | - | 3 | Gain | - |
IL23A | - | - | - | - | 3 | Gain | - |
IL26 | - | - | - | - | 3 | Gain | - |
IL31 | - | - | - | - | 3 | Gain | - |
IL4I1 | - | - | - | - | 3 | Gain | - |
INAFM1 | - | - | - | - | 3 | Gain | - |
ING4 | - | - | - | - | 3 | Gain | - |
INHBC | - | - | - | - | 3 | Gain | - |
INHBE | - | - | - | - | 3 | Gain | - |
INPP5D | p.G450S | Missense | SNP | 0.489 | 2 | - | - |
INTS1 | p.P285Q | Missense | SNP | 0.552 | 2 | - | - |
INTS13 | - | - | - | - | 3 | Gain | - |
IPO8 | - | - | - | - | 3 | Gain | - |
IQCD | - | - | - | - | 3 | Gain | - |
IQSEC3 | - | - | - | - | 3 | Gain | - |
IRAK3 | - | - | - | - | 3 | Gain | - |
IRAK4 | - | - | - | - | 3 | Gain | - |
IRF2BP1 | - | - | - | - | 3 | Gain | - |
IRF3 | - | - | - | - | 3 | Gain | - |
IRGC | - | - | - | - | 3 | Gain | - |
IRGQ | - | - | - | - | 3 | Gain | - |
ISCU | - | - | - | - | 3 | Gain | - |
ISLR2 | p.Q391H | Missense | SNP | 0.519 | 2 | - | - |
ISOC2 | - | - | - | - | 3 | Gain | - |
ITFG2 | - | - | - | - | 3 | Gain | - |
ITGA5 | - | - | - | - | 3 | Gain | - |
ITGA7 | - | - | - | - | 3 | Gain | - |
ITGA8 | p.G379S | Missense | SNP | 0.510 | 2 | - | - |
ITGB7 | - | - | - | - | 3 | Gain | - |
ITPKC | - | - | - | - | 3 | Gain | - |
ITPR2 | - | - | - | - | 3 | Gain | - |
IWS1 | p.M563T | Missense | SNP | 0.460 | 2 | - | - |
IZUMO1 | - | - | - | - | 3 | Gain | - |
IZUMO2 | - | - | - | - | 3 | Gain | - |
JADE2 | p.R260* | Nonsense | SNP | 0.552 | 2 | - | - |
JAK1 | p.V1037I | Missense | SNP | 0.461 | 2 | - | - |
JMY | p.A706V | Missense | SNP | 0.550 | 2 | - | - |
JOSD2 | - | - | - | - | 3 | Gain | - |
KANK2 | p.R488* | Nonsense | SNP | 0.487 | 2 | - | - |
KANSL2 | - | - | - | - | 3 | Gain | - |
KAT6A | p.T1455A | Missense | SNP | 0.496 | 2 | - | - |
KBTBD6 | p.D444G | Missense | SNP | 0.536 | 2 | - | - |
KCNA1 | - | - | - | - | 3 | Gain | - |
KCNA5 | - | - | - | - | 3 | Gain | - |
KCNA6 | p.R200H | Missense | SNP | 0.302 | 3 | Gain | - |
KCNA7 | - | - | - | - | 3 | Gain | - |
KCNC1 | p.M151T | Missense | SNP | 0.366 | 2 | - | - |
KCNC2 | - | - | - | - | 3 | Gain | - |
KCNC3 | - | - | - | - | 3 | Gain | - |
KCNH3 | - | - | - | - | 3 | Gain | - |
KCNJ14 | - | - | - | - | 3 | Gain | - |
KCNJ8 | - | - | - | - | 3 | Gain | - |
KCNK15 | p.G75D | Missense | SNP | 0.593 | 2 | - | - |
KCNK6 | - | - | - | - | 3 | Gain | - |
KCNMB4 | - | - | - | - | 3 | Gain | - |
KCNN1 | p.R302C | Missense | SNP | 0.456 | 2 | - | - |
KCNN4 | - | - | - | - | 3 | Gain | - |
KCP | p.H964R | Missense | SNP | 0.470 | 2 | - | - |
KCTD10 | - | - | - | - | 3 | Gain | - |
KCTD12 | p.R115H | Missense | SNP | 0.498 | 2 | - | - |
KCTD15 | - | - | - | - | 3 | Gain | - |
KCTD17 | p.P258L | Missense | SNP | 0.445 | 2 | - | - |
KDELR1 | - | - | - | - | 3 | Gain | - |
KDM2B | - | - | - | - | 3 | Gain | - |
KDM5A | - | - | - | - | 3 | Gain | - |
KDR | p.A666T | Missense | SNP | 0.505 | 2 | - | - |
KERA | - | - | - | - | 3 | Gain | - |
KIAA0141 | p.G163D | Missense | SNP | 0.581 | ND | ND | - |
KIAA0196 | p.L251M | Missense | SNP | 0.506 | ND | ND | - |
KIAA0355 | p.P698H | Missense | SNP | 0.367 | 3 | Gain | - |
KIAA0922 | p.A995T | Missense | SNP | 0.494 | ND | ND | - |
KIAA1210 | p.W1089C | Missense | SNP | 0.575 | ND | ND | - |
KIAA1217 | p.R299H | Missense | SNP | 0.491 | 2 | - | - |
KIAA1551 | - | - | - | - | 3 | Gain | - |
KIAA1586 | p.E565G | Missense | SNP | 0.418 | 2 | - | - |
KIF19 | p.H582Y | Missense | SNP | 0.468 | 2 | - | - |
KIF21A | - | - | - | - | 3 | Gain | - |
KIF27 | p.R907G | Missense | SNP | 0.464 | 2 | - | - |
KIF2B | p.R174C | Missense | SNP | 0.493 | 2 | - | - |
KIF5A | - | - | - | - | 3 | Gain | - |
KIR2DL1 | - | - | - | - | 3 | Gain | - |
KIR2DL3 | - | - | - | - | 3 | Gain | - |
KIR2DL4 | - | - | - | - | 3 | Gain | - |
KIR3DL1 | - | - | - | - | 3 | Gain | - |
KIR3DL2 | - | - | - | - | 3 | Gain | - |
KIR3DL3 | - | - | - | - | 3 | Gain | - |
KIRREL2 | - | - | - | - | 3 | Gain | - |
KITLG | - | - | - | - | 3 | Gain | - |
KLC3 | - | - | - | - | 3 | Gain | - |
KLHL42 | - | - | - | - | 3 | Gain | - |
KLK1 | - | - | - | - | 3 | Gain | - |
KLK10 | - | - | - | - | 3 | Gain | - |
KLK11 | - | - | - | - | 3 | Gain | - |
KLK12 | - | - | - | - | 3 | Gain | - |
KLK13 | - | - | - | - | 3 | Gain | - |
KLK14 | - | - | - | - | 3 | Gain | - |
KLK15 | - | - | - | - | 3 | Gain | - |
KLK2 | - | - | - | - | 3 | Gain | - |
KLK3 | - | - | - | - | 3 | Gain | - |
KLK4 | - | - | - | - | 3 | Gain | - |
KLK5 | - | - | - | - | 3 | Gain | - |
KLK6 | - | - | - | - | 3 | Gain | - |
KLK7 | - | - | - | - | 3 | Gain | - |
KLK8 | - | - | - | - | 3 | Gain | - |
KLK9 | - | - | - | - | 3 | Gain | - |
KLLN | - | - | - | - | 1 | Loss | - |
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 | - | - | - | - | 3 | Gain | - |
KMT2D | - | - | - | - | 3 | Gain | - |
KMT5A | - | - | - | - | 3 | Gain | - |
KMT5C | - | - | - | - | 3 | Gain | - |
KNOP1 | p.R240G | Missense | SNP | 0.479 | 2 | - | - |
KNTC1 | - | - | - | - | 3 | Gain | - |
KPTN | - | - | - | - | 3 | Gain | - |
KRAS | - | - | - | - | 3 | Gain | - |
KRR1 | - | - | - | - | 3 | Gain | - |
KRT1 | - | - | - | - | 3 | Gain | - |
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 | - |
KRTAP20-2 | p.R12C | Missense | SNP | 0.485 | 2 | - | - |
KRTDAP | - | - | - | - | 3 | Gain | - |
KSR2 | - | - | - | - | 3 | Gain | - |
L34079.1 | - | - | - | - | 3 | Gain | - |
L3MBTL3 | p.G556V | Missense | SNP | 0.471 | 2 | - | - |
LACRT | - | - | - | - | 3 | Gain | - |
LACTBL1 | p.R270C | Missense | SNP | 0.427 | 2 | - | - |
LAG3 | - | - | - | - | 3 | Gain | - |
LAIR1 | - | - | - | - | 3 | Gain | - |
LAIR2 | - | - | - | - | 3 | Gain | - |
LALBA | - | - | - | - | 3 | Gain | - |
LAMA1 | p.A1899T | Missense | SNP | 0.383 | 2 | - | - |
LAMA3 | p.T3259I | Missense | SNP | 0.564 | 2 | - | - |
LAMC1 | p.T66A | Missense | SNP | 0.503 | 2 | - | - |
LARP4 | - | - | - | - | 3 | Gain | - |
LBP | p.D283Y | Missense | SNP | 0.516 | 2 | - | - |
LDHB | - | - | - | - | 3 | Gain | - |
LDLRAD1 | p.T49N | Missense | SNP | 0.459 | 2 | - | - |
LDLRAD2 | p.A92T | Missense | SNP | 0.382 | 2 | - | - |
LEFTY2 | p.X246_splice | Splice_Site | SNP | 0.411 | 2 | - | - |
LEMD3 | - | - | - | - | 3 | Gain | - |
LENG1 | - | - | - | - | 3 | Gain | - |
LENG8 | - | - | - | - | 3 | Gain | - |
LENG9 | - | - | - | - | 3 | Gain | - |
LEO1 | p.R532C | Missense | SNP | 0.466 | 2 | - | - |
LETMD1 | - | - | - | - | 3 | Gain | - |
LEUTX | - | - | - | - | 3 | Gain | - |
LGALS13 | - | - | - | - | 3 | Gain | - |
LGALS14 | - | - | - | - | 3 | Gain | - |
LGALS16 | - | - | - | - | 3 | Gain | - |
LGALS4 | - | - | - | - | 3 | Gain | - |
LGALS7 | - | - | - | - | 3 | Gain | - |
LGALS7B | - | - | - | - | 3 | Gain | - |
LGI4 | - | - | - | - | 3 | Gain | - |
LGR5 | - | - | - | - | 3 | Gain | - |
LHX3 | p.V19A | Missense | SNP | 0.560 | 2 | - | - |
LHX5 | - | - | - | - | 3 | Gain | - |
LIG1 | - | - | - | - | 3 | Gain | - |
LILRA1 | - | - | - | - | 3 | Gain | - |
LILRA2 | - | - | - | - | 3 | Gain | - |
LILRA4 | - | - | - | - | 3 | Gain | - |
LILRA5 | - | - | - | - | 3 | Gain | - |
LILRA6 | - | - | - | - | 3 | Gain | - |
LILRB1 | - | - | - | - | 3 | Gain | - |
LILRB2 | - | - | - | - | 3 | Gain | - |
LILRB3 | - | - | - | - | 3 | Gain | - |
LILRB4 | - | - | - | - | 3 | Gain | - |
LILRB5 | - | - | - | - | 3 | Gain | - |
LIM2 | - | - | - | - | 3 | Gain | - |
LIMA1 | - | - | - | - | 3 | Gain | - |
LIMCH1 | p.M486V | Missense | SNP | 0.503 | 2 | - | - |
LIMS2 | p.E200D | Missense | SNP | 0.541 | 2 | - | - |
LIN37 | - | - | - | - | 3 | Gain | - |
LIN7A | - | - | - | - | 3 | Gain | - |
LIN7B | - | - | - | - | 3 | Gain | - |
LIPE | - | - | - | - | 3 | Gain | - |
LLGL2 | p.R491C | Missense | SNP | 0.510 | 2 | - | - |
LLPH | - | - | - | - | 3 | Gain | - |
LMBR1L | - | - | - | - | 3 | Gain | - |
LMF2 | p.M20V | Missense | SNP | 0.456 | 2 | - | - |
LMNTD1 | - | - | - | - | 3 | Gain | - |
LMO3 | - | - | - | - | 3 | Gain | - |
LMTK3 | - | - | - | - | 3 | Gain | - |
LONRF2 | p.R575W | Missense | SNP | 0.515 | 2 | - | - |
LOX | p.D188N | Missense | SNP | 0.428 | 2 | - | - |
LOXHD1 | p.A530T | Missense | SNP | 0.500 | 2 | - | - |
LPAR5 | - | - | - | - | 3 | Gain | - |
LPCAT3 | - | - | - | - | 3 | Gain | - |
LRBA | p.M687I | Missense | SNP | 0.459 | 2 | - | - |
LRCH1 | p.T19A | Missense | SNP | 0.435 | 2 | - | - |
LRCOL1 | - | - | - | - | 3 | Gain | - |
LRFN1 | - | - | - | - | 3 | Gain | - |
LRFN3 | p.E501D | Missense | SNP | 0.373 | 3 | Gain | - |
LRIG3 | - | - | - | - | 3 | Gain | - |
LRMP | - | - | - | - | 3 | Gain | - |
LRP1 | - | - | - | - | 3 | Gain | - |
LRP3 | - | - | - | - | 3 | Gain | - |
LRP6 | - | - | - | - | 3 | Gain | - |
LRRC10 | - | - | - | - | 3 | Gain | - |
LRRC23 | - | - | - | - | 3 | Gain | - |
LRRC32 | p.R143W | Missense | SNP | 0.478 | 2 | - | - |
LRRC43 | - | - | - | - | 3 | Gain | - |
LRRC4B | p.I222T | Missense | SNP | 0.335 | 3 | Gain | - |
LRRC8A | p.Q14* | Nonsense | SNP | 0.496 | 2 | - | - |
LRRIQ1 | p.S1273I | Missense | SNP | 0.643 | 3 | Gain | - |
LRRK2 | - | - | - | - | 3 | Gain | - |
LRTM2 | - | - | - | - | 3 | Gain | - |
LSM14A | - | - | - | - | 3 | Gain | - |
LSP1 | p.W358R | Missense | SNP | 0.594 | 2 | - | - |
LSR | - | - | - | - | 3 | Gain | - |
LTA4H | - | - | - | - | 3 | Gain | - |
LTBP1 | p.Q1279* | Nonsense | SNP | 0.479 | 2 | - | - |
LTBP4 | - | - | - | - | 3 | Gain | - |
LTBR | - | - | - | - | 3 | Gain | - |
LUM | - | - | - | - | 3 | Gain | - |
LYG2 | p.Q160* | Nonsense | SNP | 0.525 | 2 | - | - |
LYPD3 | - | - | - | - | 3 | Gain | - |
LYPD4 | - | - | - | - | 3 | Gain | - |
LYPD5 | - | - | - | - | 3 | Gain | - |
LYZ | - | - | - | - | 3 | Gain | - |
M6PR | - | - | - | - | 3 | Gain | - |
MAG | p.T36M | Missense | SNP | 0.341 | 3 | Gain | - |
MAGEE1 | p.A18V | Missense | SNP | 0.520 | ND | ND | - |
MAGOHB | - | - | - | - | 3 | Gain | - |
MAK | p.A628V | Missense | SNP | 0.572 | 2 | - | - |
MAMSTR | - | - | - | - | 3 | Gain | - |
MANSC1 | - | - | - | - | 3 | Gain | - |
MANSC4 | - | - | - | - | 3 | Gain | - |
MAP1LC3B2 | - | - | - | - | 3 | Gain | - |
MAP3K10 | - | - | - | - | 3 | Gain | - |
MAP3K12 | - | - | - | - | 3 | Gain | - |
MAP3K4 | p.T276A p.G1139C | Missense Missense | SNP SNP | 0.470 0.502 | 2 | - | - |
MAP4K1 | p.P654L | Missense | SNP | 0.673 | 3 | Gain | - |
MAPKAPK5 | - | - | - | - | 3 | Gain | - |
MARCH9 | - | - | - | - | 3 | Gain | - |
MARK4 | - | - | - | - | 3 | Gain | - |
MARS | p.L202I | Missense | SNP | 0.254 | 3 | Gain | - |
MAS1 | p.L194P | Missense | SNP | 0.497 | 2 | - | - |
MAST2 | p.T1283A | Missense | SNP | 0.536 | 2 | - | - |
MBD6 | - | - | - | - | 3 | Gain | - |
MBOAT7 | - | - | - | - | 3 | Gain | - |
MCF2 | p.X761_splice | Splice_Site | SNP | 0.580 | ND | ND | - |
MCRS1 | - | - | - | - | 3 | Gain | - |
MDM1 | - | - | - | - | 3 | Gain | - |
MDM2 | - | - | - | - | 3 | Gain | - |
MED12L | p.Q1307* | Nonsense | SNP | 0.430 | 2 | - | - |
MED13L | - | - | - | - | 3 | Gain | - |
MED16 | p.A630V | Missense | SNP | 0.547 | 2 | - | - |
MED21 | p.A48P | Missense | SNP | 0.660 | 3 | Gain | - |
MED25 | - | - | - | - | 3 | Gain | - |
MED29 | - | - | - | - | 3 | Gain | - |
MEGF8 | p.P1939H | Missense | SNP | 0.766 | 3 | Gain | - |
MEIS3 | - | - | - | - | 3 | Gain | - |
MEPE | p.K331N | Missense | SNP | 0.416 | 2 | - | - |
METAP2 | - | - | - | - | 3 | Gain | - |
METTL1 | - | - | - | - | 3 | Gain | - |
METTL25 | - | - | - | - | 3 | Gain | - |
METTL7A | - | - | - | - | 3 | Gain | - |
METTL7B | - | - | - | - | 3 | Gain | - |
MFAP5 | - | - | - | - | 3 | Gain | - |
MFSD13A | p.S180F | Missense | SNP | 0.415 | 2 | - | - |
MFSD5 | - | - | - | - | 3 | Gain | - |
MGA | p.R1016* | Nonsense | SNP | 0.437 | 2 | - | - |
MGAT4C | - | - | - | - | 3 | Gain | - |
MGP | - | - | - | - | 3 | Gain | - |
MGST1 | - | - | - | - | 3 | Gain | - |
MIA | - | - | - | - | 3 | Gain | - |
MIA-RAB4B | - | - | - | - | 3 | Gain | - |
MIER1 | p.E345A | Missense | SNP | 0.435 | 2 | - | - |
MINPP1 | - | - | - | - | 1 | Loss | - |
MIP | - | - | - | - | 3 | Gain | - |
MISP | p.R346H | Missense | SNP | 0.468 | 2 | - | - |
MLC1 | p.T320M | Missense | SNP | 0.516 | 2 | - | - |
MLEC | - | - | - | - | 3 | Gain | - |
MLF2 | - | - | - | - | 3 | Gain | - |
MLIP | p.P668S | Missense | SNP | 0.455 | 2 | - | - |
MLLT1 | p.R548H | Missense | SNP | 0.431 | 2 | - | - |
MLXIP | - | - | - | - | 3 | Gain | - |
MMAB | - | - | - | - | 3 | Gain | - |
MMP17 | - | - | - | - | 3 | Gain | - |
MMP19 | - | - | - | - | 3 | Gain | - |
MMP23B | - | - | - | - | 1 | Loss | - |
MON2 | - | - | - | - | 3 | Gain | - |
MORF4L1 | p.Y239C | Missense | SNP | 0.494 | 2 | - | - |
MORN3 | - | - | - | - | 3 | Gain | - |
MPG | p.A37T | Missense | SNP | 0.500 | 2 | - | - |
MPHOSPH9 | - | - | - | - | 3 | Gain | - |
MRFAP1L1 | p.D23E | Missense | SNP | 0.467 | 2 | - | - |
MRPL15 | p.V211A | Missense | SNP | 0.535 | 2 | - | - |
MRPL19 | p.R271S | Missense | SNP | 0.479 | 2 | - | - |
MRPL42 | - | - | - | - | 3 | Gain | - |
MRPL51 | - | - | - | - | 3 | Gain | - |
MRPS12 | - | - | - | - | 3 | Gain | - |
MRPS35 | - | - | - | - | 3 | Gain | - |
MRS2 | p.G382* | Nonsense | SNP | 0.452 | 2 | - | - |
MSI1 | p.A281T | Missense | SNP | 0.275 | 3 | Gain | - |
MSRB3 | - | - | - | - | 3 | Gain | - |
MTERF2 | - | - | - | - | 3 | Gain | - |
MTERF4 | p.L180I | Missense | SNP | 0.455 | 2 | - | - |
MTMR3 | p.T887I | Missense | SNP | 0.480 | 2 | - | - |
MTOR | p.R1905G p.R1514Q | Missense Missense | SNP SNP | 0.484 0.529 | 2 | - | - |
MUC16 | p.K14265E | Missense | SNP | 0.407 | 2 | - | - |
MUC19 | - | - | - | - | 3 | Gain | - |
MUC4 | p.Q5315K | Missense | SNP | 0.243 | 2 | - | - |
MUCL1 | - | - | - | - | 3 | Gain | - |
MVK | - | - | - | - | 3 | Gain | - |
MXRA8 | p.A177T | Missense | SNP | 0.495 | 2 | - | - |
MYADM | p.T229I | Missense | SNP | 0.378 | 3 | Gain | - |
MYBPC1 | - | - | - | - | 3 | Gain | - |
MYBPC2 | - | - | - | - | 3 | Gain | - |
MYEF2 | p.X142_splice | Splice_Site | SNP | 0.400 | 2 | - | - |
MYF5 | - | - | - | - | 3 | Gain | - |
MYF6 | - | - | - | - | 3 | Gain | - |
MYH14 | - | - | - | - | 3 | Gain | - |
MYL2 | - | - | - | - | 3 | Gain | - |
MYL6 | - | - | - | - | 3 | Gain | - |
MYL6B | - | - | - | - | 3 | Gain | - |
MYO1A | - | - | - | - | 3 | Gain | - |
MYO1H | - | - | - | - | 3 | Gain | - |
MYPOP | - | - | - | - | 3 | Gain | - |
MYRFL | - | - | - | - | 3 | Gain | - |
MYSM1 | p.Y655H | Missense | SNP | 0.405 | 2 | - | - |
NAA25 | - | - | - | - | 3 | Gain | - |
NAB2 | - | - | - | - | 3 | Gain | - |
NABP2 | - | - | - | - | 3 | Gain | - |
NACA | - | - | - | - | 3 | Gain | - |
NAGA | p.A337T | Missense | SNP | 0.506 | 2 | - | - |
NANOG | - | - | - | - | 3 | Gain | - |
NANOGNB | - | - | - | - | 3 | Gain | - |
NANOS2 | - | - | - | - | 3 | Gain | - |
NAP1L1 | - | - | - | - | 3 | Gain | - |
NAPA | - | - | - | - | 3 | Gain | - |
NAPSA | - | - | - | - | 3 | Gain | - |
NAT14 | - | - | - | - | 3 | Gain | - |
NAV3 | p.L565S | Missense | SNP | 0.674 | 3 | Gain | - |
NCAPD2 | p.D1245G | Missense | SNP | 0.688 | 3 | Gain | - |
NCAPD3 | p.S1150G | Missense | SNP | 0.526 | 2 | - | - |
NCCRP1 | - | - | - | - | 3 | Gain | - |
NCKAP1L | p.L1099M | Missense | SNP | 0.311 | 3 | Gain | - |
NCKAP5L | - | - | - | - | 3 | Gain | - |
NCKIPSD | p.R399H | Missense | SNP | 0.470 | 2 | - | - |
NCOR2 | - | - | - | - | 3 | Gain | - |
NCR1 | - | - | - | - | 3 | Gain | - |
NDUFA12 | - | - | - | - | 3 | Gain | - |
NDUFA3 | - | - | - | - | 3 | Gain | - |
NDUFA4L2 | - | - | - | - | 3 | Gain | - |
NDUFA9 | - | - | - | - | 3 | Gain | - |
NECAP1 | - | - | - | - | 3 | Gain | - |
NECTIN2 | - | - | - | - | 3 | Gain | - |
NEDD1 | - | - | - | - | 3 | Gain | - |
NEK4 | - | - | - | - | 3 | Gain | - |
NELL2 | p.G841D | Missense | SNP | 0.689 | 3 | Gain | - |
NEMP1 | - | - | - | - | 3 | Gain | - |
NEO1 | p.V446M | Missense | SNP | 0.519 | 2 | - | - |
NEUROD4 | - | - | - | - | 3 | Gain | - |
NFE2 | - | - | - | - | 3 | Gain | - |
NFKBIB | - | - | - | - | 3 | Gain | - |
NFKBID | - | - | - | - | 3 | Gain | - |
NFYB | - | - | - | - | 3 | Gain | - |
NHS | p.S617I | Missense | SNP | 0.680 | ND | ND | - |
NINJ2 | - | - | - | - | 3 | Gain | - |
NIPBL | p.S858T | Missense | SNP | 0.441 | 2 | - | - |
NIT1 | p.F12S | Missense | SNP | 0.515 | 2 | - | - |
NKG7 | - | - | - | - | 3 | Gain | - |
NKPD1 | - | - | - | - | 3 | Gain | - |
NLGN4X | p.G182D | Missense | SNP | 0.652 | ND | ND | - |
NLRC4 | p.A687T | Missense | SNP | 0.514 | 2 | - | - |
NLRP11 | - | - | - | - | 3 | Gain | - |
NLRP12 | - | - | - | - | 3 | Gain | - |
NLRP13 | - | - | - | - | 3 | Gain | - |
NLRP2 | - | - | - | - | 3 | Gain | - |
NLRP4 | - | - | - | - | 3 | Gain | - |
NLRP5 | - | - | - | - | 3 | Gain | - |
NLRP7 | - | - | - | - | 3 | Gain | - |
NLRP8 | - | - | - | - | 3 | Gain | - |
NLRP9 | - | - | - | - | 3 | Gain | - |
NOC2L | p.A517V | Missense | SNP | 0.525 | 2 | - | - |
NOC4L | - | - | - | - | 3 | Gain | - |
NOP2 | - | - | - | - | 3 | Gain | - |
NOP53 | - | - | - | - | 3 | Gain | - |
NOP58 | p.A477T | Missense | SNP | 0.544 | 2 | - | - |
NOS1 | - | - | - | - | 3 | Gain | - |
NOSIP | - | - | - | - | 3 | Gain | - |
NOVA2 | - | - | - | - | 3 | Gain | - |
NPAS1 | - | - | - | - | 3 | Gain | - |
NPFF | - | - | - | - | 3 | Gain | - |
NPHP3 | p.G235* | Nonsense | SNP | 0.556 | 2 | - | - |
NPHS1 | p.E50G | Missense | SNP | 0.124 | 3 | Gain | - |
NPR1 | p.L20P p.G653V | Missense Missense | SNP SNP | 0.521 0.437 | 2 | - | - |
NR0B1 | p.A92V | Missense | SNP | 0.510 | ND | ND | - |
NR0B2 | p.P74S | Missense | SNP | 0.558 | 2 | - | - |
NR1H2 | - | - | - | - | 3 | Gain | - |
NR1H4 | - | - | - | - | 3 | Gain | - |
NR2C1 | - | - | - | - | 3 | Gain | - |
NR3C1 | p.A428D | Missense | SNP | 0.478 | 2 | - | - |
NR4A1 | - | - | - | - | 3 | Gain | - |
NRIP2 | - | - | - | - | 3 | Gain | - |
NRXN1 | p.G1100E | Missense | SNP | 0.482 | 2 | - | - |
NT5DC3 | - | - | - | - | 3 | Gain | - |
NTF3 | - | - | - | - | 3 | Gain | - |
NTF4 | - | - | - | - | 3 | Gain | - |
NTN4 | - | - | - | - | 3 | Gain | - |
NTN5 | - | - | - | - | 3 | Gain | - |
NTS | - | - | - | - | 3 | Gain | - |
NUAK1 | - | - | - | - | 3 | Gain | - |
NUCB1 | - | - | - | - | 3 | Gain | - |
NUDT19 | - | - | - | - | 3 | Gain | - |
NUDT4 | - | - | - | - | 3 | Gain | - |
NUMBL | - | - | - | - | 3 | Gain | - |
NUP107 | - | - | - | - | 3 | Gain | - |
NUP155 | - | - | - | - | 1 | Loss | NUP155--CPLANE1 |
NUP35 | p.P281S | Missense | DNP | 0.512 | 2 | - | - |
NUP37 | - | - | - | - | 3 | Gain | - |
NUP62 | - | - | - | - | 3 | Gain | - |
NXPH4 | - | - | - | - | 3 | Gain | - |
OAS1 | - | - | - | - | 3 | Gain | - |
OAS2 | - | - | - | - | 3 | Gain | - |
OAS3 | - | - | - | - | 3 | Gain | - |
OASL | - | - | - | - | 3 | Gain | - |
OBSCN | p.T1195M p.V8379G | Missense Missense | SNP SNP | 0.463 0.423 | 2 | - | - |
OCM2 | p.A90V | Missense | SNP | 0.453 | 2 | - | - |
ODF2 | p.Q777* | Nonsense | SNP | 0.425 | 2 | - | - |
OGFOD2 | - | - | - | - | 3 | Gain | - |
OLR1 | - | - | - | - | 3 | Gain | - |
ONECUT3 | p.V120M | Missense | SNP | 0.254 | 2 | - | - |
OPA3 | - | - | - | - | 3 | Gain | - |
OPLAH | p.V1043A p.K92R | Missense Missense | SNP SNP | 0.519 0.553 | 2 | - | - |
OR10A7 | - | - | - | - | 3 | Gain | - |
OR10AD1 | - | - | - | - | 3 | Gain | - |
OR10G7 | p.H154R | Missense | SNP | 0.500 | 2 | - | - |
OR10P1 | - | - | - | - | 3 | Gain | - |
OR2AP1 | - | - | - | - | 3 | Gain | - |
OR4C6 | p.G202V | Missense | SNP | 0.453 | 2 | - | - |
OR51I2 | p.G208D | Missense | SNP | 0.462 | 2 | - | - |
OR51V1 | p.F174V | Missense | SNP | 0.514 | 2 | - | - |
OR5BS1P | - | - | - | - | 3 | Gain | - |
OR6C1 | - | - | - | - | 3 | Gain | - |
OR6C2 | - | - | - | - | 3 | Gain | - |
OR6C3 | - | - | - | - | 3 | Gain | - |
OR6C4 | p.T72I | Missense | SNP | 0.312 | 3 | Gain | - |
OR6C6 | - | - | - | - | 3 | Gain | - |
OR6C65 | - | - | - | - | 3 | Gain | - |
OR6C68 | - | - | - | - | 3 | Gain | - |
OR6C70 | - | - | - | - | 3 | Gain | - |
OR6C74 | - | - | - | - | 3 | Gain | - |
OR6C75 | - | - | - | - | 3 | Gain | - |
OR6C76 | - | - | - | - | 3 | Gain | - |
OR6S1 | p.A118V | Missense | SNP | 0.480 | 2 | - | - |
OR7E47P | - | - | - | - | 3 | Gain | - |
OR8D2 | p.E88D | Missense | SNP | 0.513 | 2 | - | - |
OR8D4 | p.C189* | Nonsense | SNP | 0.491 | 2 | - | - |
OR8S1 | - | - | - | - | 3 | Gain | - |
OR9K2 | - | - | - | - | 3 | Gain | - |
ORAI1 | - | - | - | - | 3 | Gain | - |
ORMDL2 | - | - | - | - | 3 | Gain | - |
OS9 | - | - | - | - | 3 | Gain | - |
OSBPL7 | p.L328P | Missense | SNP | 0.412 | 2 | - | - |
OSBPL8 | - | - | - | - | 3 | Gain | - |
OSCAR | - | - | - | - | 3 | Gain | - |
OTOGL | - | - | - | - | 3 | Gain | - |
OTP | p.A157S | Missense | SNP | 0.483 | 2 | - | - |
OVCH1 | - | - | - | - | 3 | Gain | - |
OVOL3 | - | - | - | - | 3 | Gain | - |
P2RX2 | - | - | - | - | 3 | Gain | - |
P2RX4 | - | - | - | - | 3 | Gain | - |
P2RX7 | - | - | - | - | 3 | Gain | - |
P3H3 | - | - | - | - | 3 | Gain | - |
PA2G4 | - | - | - | - | 3 | Gain | - |
PABPC4L | - | - | - | - | 3 | Gain | - |
PAF1 | - | - | - | - | 3 | Gain | - |
PAFAH1B3 | - | - | - | - | 3 | Gain | - |
PAH | - | - | - | - | 3 | Gain | - |
PAK4 | - | - | - | - | 3 | Gain | - |
PALM | p.C384* | Nonsense | SNP | 0.578 | 2 | - | - |
PALM2-AKAP2 | p.A152T | Missense | SNP | 0.457 | 2 | - | - |
PAN2 | - | - | - | - | 3 | Gain | - |
PAPSS2 | - | - | - | - | 1 | Loss | - |
PARP10 | p.P639H | Missense | SNP | 0.478 | 2 | - | - |
PARP11 | - | - | - | - | 3 | Gain | - |
PARPBP | - | - | - | - | 3 | Gain | - |
PAWR | - | - | - | - | 3 | Gain | - |
PBRM1 | p.S1548G | Missense | SNP | 0.533 | 2 | - | - |
PCBP2 | - | - | - | - | 3 | Gain | - |
PCDH10 | p.A494T | Missense | SNP | 0.465 | 3 | Gain | - |
PCDH17 | - | - | - | - | 3 | Gain | - |
PCDH18 | p.R1133H | Missense | SNP | 0.415 | 3 | Gain | - |
PCDH7 | - | - | - | - | 3 | Gain | - |
PCDH9 | - | - | - | - | 3 | Gain | - |
PCDHA11 | p.R501H p.V664M | Missense Missense | SNP SNP | 0.648 0.549 | 2 | - | - |
PCDHA3 | p.A618V | Missense | SNP | 0.537 | 2 | - | - |
PCDHA4 | p.I337T | Missense | SNP | 0.504 | 2 | - | - |
PCDHA8 | p.Y518H | Missense | SNP | 0.500 | 2 | - | - |
PCDHB1 | p.G15R p.A262T | Missense Missense | SNP SNP | 0.562 0.413 | 2 | - | - |
PCDHB15 | p.D234G | Missense | SNP | 0.426 | 2 | - | - |
PCDHB4 | p.R717M | Missense | SNP | 0.488 | 2 | - | - |
PCDHB7 | p.V228M | Missense | SNP | 0.459 | 2 | - | - |
PCED1B | - | - | - | - | 3 | Gain | - |
PCK2 | p.R469H | Missense | SNP | 0.521 | 2 | - | - |
PCNT | p.I1676M | Missense | SNP | 0.537 | 2 | - | - |
PCSK6 | p.X172_splice | Splice_Site | SNP | 0.496 | 2 | - | - |
PDCD2L | - | - | - | - | 3 | Gain | - |
PDCD5 | - | - | - | - | 3 | Gain | - |
PDE1B | - | - | - | - | 3 | Gain | - |
PDE3A | - | - | - | - | 3 | Gain | - |
PDE6H | - | - | - | - | 3 | Gain | - |
PDZRN4 | - | - | - | - | 3 | Gain | - |
PEBP1 | - | - | - | - | 3 | Gain | - |
PEG3 | - | - | - | - | 3 | Gain | - |
PELI1 | p.G368V | Missense | SNP | 0.481 | 2 | - | - |
PEMT | p.C90Y | Missense | SNP | 0.505 | 2 | - | - |
PEPD | - | - | - | - | 3 | Gain | - |
PEX12 | p.L130P | Missense | SNP | 0.528 | 2 | - | - |
PEX2 | p.A107V | Missense | SNP | 0.471 | 2 | - | - |
PEX5 | - | - | - | - | 3 | Gain | - |
PFDN5 | - | - | - | - | 3 | Gain | - |
PFKM | - | - | - | - | 3 | Gain | - |
PFN3 | p.R16C | Missense | SNP | 0.525 | 2 | - | - |
PGAM5 | - | - | - | - | 3 | Gain | - |
PGLS | p.T97M | Missense | SNP | 0.446 | 2 | - | - |
PGLYRP1 | - | - | - | - | 3 | Gain | - |
PHB2 | - | - | - | - | 3 | Gain | - |
PHC1 | - | - | - | - | 3 | Gain | - |
PHETA1 | - | - | - | - | 3 | Gain | - |
PHLDA1 | - | - | - | - | 3 | Gain | - |
PHLDB3 | - | - | - | - | 3 | Gain | - |
PIANP | - | - | - | - | 3 | Gain | - |
PIDD1 | p.D781Y p.I567T | Missense Missense | SNP SNP | 0.463 0.430 | 2 | - | - |
PIH1D1 | - | - | - | - | 3 | Gain | - |
PIK3C2G | - | - | - | - | 3 | Gain | - |
PIK3R5 | p.A473T | Missense | SNP | 0.473 | 2 | - | - |
PIM2 | p.R274Q p.A216V | Missense Missense | SNP SNP | 0.383 0.461 | ND | ND | - |
PIN4 | p.T121A | Missense | SNP | 0.484 | ND | ND | - |
PINLYP | - | - | - | - | 3 | Gain | - |
PIP4K2C | - | - | - | - | 3 | Gain | - |
PITPNM2 | - | - | - | - | 3 | Gain | - |
PIWIL1 | - | - | - | - | 3 | Gain | - |
PIWIL2 | p.I964V | Missense | SNP | 0.429 | 2 | - | - |
PIWIL3 | p.T643I | Missense | SNP | 0.518 | 2 | - | - |
PJA1 | p.T352M | Missense | SNP | 0.464 | ND | ND | - |
PKP2 | - | - | - | - | 3 | Gain | - |
PLA2G1B | - | - | - | - | 3 | Gain | - |
PLA2G4C | - | - | - | - | 3 | Gain | - |
PLAUR | p.G330D | Missense | SNP | 0.485 | 3 | Gain | - |
PLBD1 | - | - | - | - | 3 | Gain | - |
PLBD2 | - | - | - | - | 3 | Gain | - |
PLCG2 | p.K1100N | Missense | SNP | 0.502 | 2 | - | - |
PLCZ1 | - | - | - | - | 3 | Gain | - |
PLD3 | - | - | - | - | 3 | Gain | - |
PLEKHA4 | - | - | - | - | 3 | Gain | - |
PLEKHA5 | - | - | - | - | 3 | Gain | - |
PLEKHF1 | - | - | - | - | 3 | Gain | - |
PLEKHG2 | - | - | - | - | 3 | Gain | - |
PLEKHG4B | p.L402F | Missense | SNP | 0.520 | 2 | - | - |
PLEKHG6 | - | - | - | - | 3 | Gain | - |
PLEKHG7 | - | - | - | - | 3 | Gain | - |
PLXNA4 | p.R1556* | Nonsense | SNP | 0.489 | 2 | - | - |
PLXNC1 | - | - | - | - | 3 | Gain | - |
PMCH | - | - | - | - | 3 | Gain | - |
PMEL | - | - | - | - | 3 | Gain | - |
PML | p.T391A | Missense | SNP | 0.400 | 2 | - | - |
PNKP | - | - | - | - | 3 | Gain | - |
PNLDC1 | p.R199M | Missense | SNP | 0.473 | 2 | - | - |
PNMA8A | - | - | - | - | 3 | Gain | - |
PNMA8B | - | - | - | - | 3 | Gain | - |
POC1B | - | - | - | - | 3 | Gain | - |
POC1B-GALNT4 | - | - | - | - | 3 | Gain | - |
POLD1 | p.R444W | Missense | SNP | 0.117 | 3 | Gain | - |
POLE | - | - | - | - | 3 | Gain | - |
POLR2B | p.A69T | Missense | SNP | 0.510 | 2 | - | - |
POLR2I | - | - | - | - | 3 | Gain | - |
POLR3B | - | - | - | - | 3 | Gain | - |
POM121L12 | p.R163C | Missense | SNP | 0.474 | 2 | - | - |
POP4 | - | - | - | - | 3 | Gain | - |
POP5 | - | - | - | - | 3 | Gain | - |
POU2F2 | - | - | - | - | 3 | Gain | - |
POU6F1 | - | - | - | - | 3 | Gain | - |
PPFIA2 | - | - | - | - | 3 | Gain | - |
PPFIA3 | - | - | - | - | 3 | Gain | - |
PPFIBP1 | - | - | - | - | 3 | Gain | - |
PPHLN1 | - | - | - | - | 3 | Gain | - |
PPM1H | - | - | - | - | 3 | Gain | - |
PPM1N | - | - | - | - | 3 | Gain | - |
PPP1CC | - | - | - | - | 3 | Gain | - |
PPP1R12A | - | - | - | - | 3 | Gain | - |
PPP1R12C | - | - | - | - | 3 | Gain | - |
PPP1R13L | - | - | - | - | 3 | Gain | - |
PPP1R14A | - | - | - | - | 3 | Gain | - |
PPP1R15A | - | - | - | - | 3 | Gain | - |
PPP1R1A | - | - | - | - | 3 | Gain | - |
PPP1R37 | - | - | - | - | 3 | Gain | - |
PPP2R1A | - | - | - | - | 3 | Gain | - |
PPP2R5D | p.T358I | Missense | SNP | 1.000 | 2 | - | - |
PPP5C | p.Q405R | Missense | SNP | 0.579 | 3 | Gain | - |
PPP5D1 | - | - | - | - | 3 | Gain | - |
PPP6R1 | - | - | - | - | 3 | Gain | - |
PPTC7 | - | - | - | - | 3 | Gain | - |
PRAG1 | - | - | - | - | 1 | Loss | - |
PRAME | p.R116M | Missense | SNP | 0.565 | 2 | - | - |
PRB1 | - | - | - | - | 3 | Gain | - |
PRB2 | - | - | - | - | 3 | Gain | - |
PRB3 | - | - | - | - | 3 | Gain | - |
PRB4 | - | - | - | - | 3 | Gain | - |
PRDM4 | - | - | - | - | 3 | Gain | - |
PREX2 | p.G7R | Missense | SNP | 0.429 | 2 | - | - |
PRH1 | - | - | - | - | 3 | Gain | - |
PRH1-PRR4 | - | - | - | - | 3 | Gain | - |
PRH2 | - | - | - | - | 3 | Gain | - |
PRICKLE1 | - | - | - | - | 3 | Gain | - |
PRIM1 | - | - | - | - | 3 | Gain | - |
PRKAB1 | - | - | - | - | 3 | Gain | - |
PRKAG1 | - | - | - | - | 3 | Gain | - |
PRKAG3 | p.P384H | Missense | SNP | 0.447 | 2 | - | - |
PRKCG | p.A465D | Missense | SNP | 0.140 | 3 | Gain | - |
PRKD2 | - | - | - | - | 3 | Gain | - |
PRKX | p.R120H | Missense | SNP | 0.275 | ND | ND | - |
PRMT1 | - | - | - | - | 3 | Gain | - |
PRMT8 | - | - | - | - | 3 | Gain | - |
PRMT9 | p.D558Y | Missense | SNP | 0.421 | 2 | - | - |
PRODH2 | - | - | - | - | 3 | Gain | - |
PROSER3 | p.P90S | Missense | SNP | 0.336 | 3 | Gain | - |
PRPF31 | - | - | - | - | 3 | Gain | - |
PRPF40B | - | - | - | - | 3 | Gain | - |
PRPH | - | - | - | - | 3 | Gain | - |
PRR12 | - | - | - | - | 3 | Gain | - |
PRR13 | - | - | - | - | 3 | Gain | - |
PRR19 | - | - | - | - | 3 | Gain | - |
PRR21 | p.R95L | Missense | SNP | 0.452 | ND | ND | - |
PRR23D1 | - | - | - | - | 1 | Loss | - |
PRR23D2 | - | - | - | - | 1 | Loss | - |
PRR4 | - | - | - | - | 3 | Gain | - |
PRRG2 | - | - | - | - | 3 | Gain | - |
PRX | - | - | - | - | 3 | Gain | - |
PSENEN | - | - | - | - | 3 | Gain | - |
PSG1 | - | - | - | - | 3 | Gain | - |
PSG11 | - | - | - | - | 3 | Gain | - |
PSG2 | - | - | - | - | 3 | Gain | - |
PSG3 | - | - | - | - | 3 | Gain | - |
PSG4 | - | - | - | - | 3 | Gain | - |
PSG5 | - | - | - | - | 3 | Gain | - |
PSG6 | - | - | - | - | 3 | Gain | - |
PSG7 | - | - | - | - | 3 | Gain | - |
PSG8 | - | - | - | - | 3 | Gain | - |
PSG9 | - | - | - | - | 3 | Gain | - |
PSMC4 | - | - | - | - | 3 | Gain | - |
PSMD14 | p.P19L | Missense | SNP | 0.422 | 2 | - | - |
PSMD8 | - | - | - | - | 3 | Gain | - |
PSMD9 | - | - | - | - | 3 | Gain | - |
PTEN | p.F347V | Missense | SNP | 1.000 | 1 | Loss | - |
PTF1A | p.R206H | Missense | SNP | 0.489 | 2 | - | - |
PTGES3 | - | - | - | - | 3 | Gain | - |
PTGIR | - | - | - | - | 3 | Gain | - |
PTH2 | - | - | - | - | 3 | Gain | - |
PTHLH | - | - | - | - | 3 | Gain | - |
PTMS | - | - | - | - | 3 | Gain | - |
PTOV1 | p.C359Y | Missense | SNP | 0.371 | 3 | Gain | - |
PTPN11 | - | - | - | - | 3 | Gain | - |
PTPN21 | p.A506T | Missense | SNP | 0.464 | 2 | - | - |
PTPN6 | - | - | - | - | 3 | Gain | - |
PTPN9 | p.E454* | Nonsense | SNP | 0.561 | 2 | - | - |
PTPRB | - | - | - | - | 3 | Gain | - |
PTPRH | - | - | - | - | 3 | Gain | - |
PTPRO | - | - | - | - | 3 | Gain | - |
PTPRQ | - | - | - | - | 3 | Gain | - |
PTPRR | - | - | - | - | 3 | Gain | - |
PTPRS | p.R1102C p.A2V | Missense Missense | SNP SNP | 0.449 0.494 | 2 | - | - |
PUS1 | - | - | - | - | 3 | Gain | - |
PUS7L | - | - | - | - | 3 | Gain | - |
PVR | - | - | - | - | 3 | Gain | - |
PWP1 | - | - | - | - | 3 | Gain | - |
PXMP2 | - | - | - | - | 3 | Gain | - |
PXN | - | - | - | - | 3 | Gain | - |
PYM1 | - | - | - | - | 3 | Gain | - |
PYROXD1 | - | - | - | - | 3 | Gain | - |
PZP | - | - | - | - | 3 | Gain | - |
QPCT | p.A138T | Missense | SNP | 0.527 | 2 | - | - |
QPCTL | - | - | - | - | 3 | Gain | - |
R3HDM2 | - | - | - | - | 3 | Gain | - |
RAB21 | - | - | - | - | 3 | Gain | - |
RAB35 | - | - | - | - | 3 | Gain | - |
RAB3A | p.L207P | Missense | SNP | 0.376 | 2 | - | - |
RAB3IP | - | - | - | - | 3 | Gain | - |
RAB4B | - | - | - | - | 3 | Gain | - |
RAB4B-EGLN2 | - | - | - | - | 3 | Gain | - |
RAB5B | - | - | - | - | 3 | Gain | - |
RABAC1 | - | - | - | - | 3 | Gain | - |
RACGAP1 | - | - | - | - | 3 | Gain | - |
RAD50 | p.D1294N | Missense | SNP | 0.519 | 2 | - | - |
RAD51AP1 | - | - | - | - | 3 | Gain | - |
RAD52 | - | - | - | - | 3 | Gain | - |
RAD9B | - | - | - | - | 3 | Gain | - |
RAI2 | p.A110V | Missense | SNP | 0.335 | ND | ND | - |
RAN | - | - | - | - | 3 | Gain | - |
RAP1B | - | - | - | - | 3 | Gain | - |
RAPGEF3 | p.G226C | Missense | SNP | 0.393 | 3 | Gain | - |
RARG | - | - | - | - | 3 | Gain | - |
RASAL1 | - | - | - | - | 3 | Gain | - |
RASAL3 | p.G30S | Missense | SNP | 0.438 | 2 | - | - |
RASGRP4 | - | - | - | - | 3 | Gain | - |
RASIP1 | - | - | - | - | 3 | Gain | - |
RASL10A | p.A178T | Missense | SNP | 0.502 | 2 | - | - |
RASSF3 | - | - | - | - | 3 | Gain | - |
RASSF8 | - | - | - | - | 3 | Gain | - |
RASSF9 | - | - | - | - | 3 | Gain | - |
RBFOX1 | p.G319S | Missense | SNP | 0.435 | 2 | - | - |
RBL2 | p.K395T | Missense | SNP | 0.451 | 2 | - | - |
RBM19 | - | - | - | - | 3 | Gain | - |
RBM42 | - | - | - | - | 3 | Gain | - |
RBMS2 | - | - | - | - | 3 | Gain | - |
RBP5 | - | - | - | - | 3 | Gain | - |
RCN3 | - | - | - | - | 3 | Gain | - |
RDH13 | p.T241M | Missense | SNP | 0.562 | 3 | Gain | - |
RDH16 | - | - | - | - | 3 | Gain | - |
RDH5 | - | - | - | - | 3 | Gain | - |
RECQL | - | - | - | - | 3 | Gain | - |
RELB | - | - | - | - | 3 | Gain | - |
REP15 | - | - | - | - | 3 | Gain | - |
RERE | p.R287C | Missense | SNP | 0.501 | 2 | - | - |
RERG | - | - | - | - | 3 | Gain | - |
RERGL | - | - | - | - | 3 | Gain | - |
RFC5 | - | - | - | - | 3 | Gain | - |
RFLNA | - | - | - | - | 3 | Gain | - |
RFPL4A | - | - | - | - | 3 | Gain | - |
RFPL4AL1 | - | - | - | - | 3 | Gain | - |
RFTN2 | p.K234E | Missense | SNP | 0.500 | 2 | - | - |
RFX4 | - | - | - | - | 3 | Gain | - |
RGL2 | p.I765T | Missense | SNP | 0.489 | 2 | - | - |
RGPD1 | - | - | - | - | 0 | Del | - |
RGPD2 | - | - | - | - | 0 | Del | - |
RGS12 | p.D1380Y | Missense | SNP | 0.513 | 2 | - | - |
RGS9BP | - | - | - | - | 3 | Gain | - |
RHEBL1 | - | - | - | - | 3 | Gain | - |
RHNO1 | - | - | - | - | 3 | Gain | - |
RHOF | - | - | - | - | 3 | Gain | - |
RHPN2 | - | - | - | - | 3 | Gain | - |
RIC8B | - | - | - | - | 3 | Gain | - |
RICTOR | p.K488E | Missense | SNP | 0.492 | 2 | - | - |
RIF1 | p.G1482* | Nonsense | SNP | 0.411 | 2 | - | - |
RILPL1 | - | - | - | - | 3 | Gain | - |
RILPL2 | - | - | - | - | 3 | Gain | - |
RIMBP2 | - | - | - | - | 3 | Gain | - |
RIMKLB | - | - | - | - | 3 | Gain | - |
RING1 | p.R146H | Missense | SNP | 0.509 | 2 | - | - |
RINL | - | - | - | - | 3 | Gain | - |
RITA1 | - | - | - | - | 3 | Gain | - |
RMDN3 | p.S77A | Missense | SNP | 0.522 | 2 | - | - |
RND1 | - | - | - | - | 3 | Gain | - |
RNF10 | - | - | - | - | 3 | Gain | - |
RNF128 | p.G124R | Missense | SNP | 0.516 | ND | ND | - |
RNF139 | p.R496W | Missense | SNP | 0.541 | 2 | - | - |
RNF213 | p.V3709I | Missense | SNP | 0.459 | 2 | - | - |
RNF214 | p.X274_splice | Splice_Site | SNP | 0.459 | 2 | - | - |
RNF34 | - | - | - | - | 3 | Gain | - |
RNF41 | - | - | - | - | 3 | Gain | - |
RNF43 | p.A136T | Missense | SNP | 0.490 | 2 | - | - |
RNFT2 | - | - | - | - | 3 | Gain | - |
RNLS | - | - | - | - | 1 | Loss | - |
ROBO1 | p.R261T | Missense | SNP | 0.507 | 2 | - | - |
RORB | p.E225D | Missense | SNP | 0.483 | 2 | - | - |
RPAP3 | - | - | - | - | 3 | Gain | - |
RPH3A | - | - | - | - | 3 | Gain | - |
RPL10L | p.G161V | Missense | SNP | 0.467 | 2 | - | - |
RPL11 | p.Y92H | Missense | SNP | 0.500 | 2 | - | - |
RPL13A | - | - | - | - | 3 | Gain | - |
RPL18 | - | - | - | - | 3 | Gain | - |
RPL28 | - | - | - | - | 3 | Gain | - |
RPL41 | - | - | - | - | 3 | Gain | - |
RPL6 | - | - | - | - | 3 | Gain | - |
RPLP0 | - | - | - | - | 3 | Gain | - |
RPS11 | - | - | - | - | 3 | Gain | - |
RPS16 | - | - | - | - | 3 | Gain | - |
RPS19 | - | - | - | - | 3 | Gain | - |
RPS26 | - | - | - | - | 3 | Gain | - |
RPS6KA3 | p.E124D | Missense | SNP | 0.367 | ND | ND | - |
RPS6KL1 | p.T55A | Missense | SNP | 0.520 | 2 | - | - |
RPS9 | - | - | - | - | 3 | Gain | - |
RRAS | - | - | - | - | 3 | Gain | - |
RSPH6A | - | - | - | - | 3 | Gain | - |
RSRC2 | - | - | - | - | 3 | Gain | - |
RTL1 | p.V341D | Missense | SNP | 0.520 | 2 | - | - |
RTN1 | p.P441S | Missense | SNP | 0.549 | 2 | - | - |
RTN2 | - | - | - | - | 3 | Gain | - |
RUVBL2 | - | - | - | - | 3 | Gain | - |
RXYLT1 | - | - | - | - | 3 | Gain | - |
RYR1 | p.R1593W p.A2566V | Missense Missense | SNP SNP | 0.583 0.376 | 3 | Gain | - |
RYR3 | p.G1925V p.C4377R | Missense Missense | SNP SNP | 0.464 0.421 | 2 | - | - |
S1PR5 | p.L95R | Missense | SNP | 0.562 | 2 | - | - |
SAE1 | - | - | - | - | 3 | Gain | - |
SAG | p.R193Q | Missense | SNP | 0.540 | 2 | - | - |
SALL3 | p.A1103P | Missense | SNP | 0.505 | 2 | - | - |
SAMD4B | - | - | - | - | 3 | Gain | - |
SARNP | - | - | - | - | 3 | Gain | - |
SARS2 | - | - | - | - | 3 | Gain | - |
SART3 | - | - | - | - | 3 | Gain | - |
SASH1 | p.H292R | Missense | SNP | 0.486 | 2 | - | - |
SASS6 | p.L32P | Missense | SNP | 0.489 | 2 | - | - |
SAXO1 | p.A376S | Missense | SNP | 0.471 | 2 | - | - |
SBK2 | - | - | - | - | 3 | Gain | - |
SBK3 | - | - | - | - | 3 | Gain | - |
SBNO1 | - | - | - | - | 3 | Gain | - |
SBSN | - | - | - | - | 3 | Gain | - |
SCAF1 | - | - | - | - | 3 | Gain | - |
SCAF11 | - | - | - | - | 3 | Gain | - |
SCAPER | p.Q243H | Missense | SNP | 0.569 | 2 | - | - |
SCARB1 | - | - | - | - | 3 | Gain | - |
SCGB2B2 | - | - | - | - | 3 | Gain | - |
SCN1B | - | - | - | - | 3 | Gain | - |
SCN8A | - | - | - | - | 3 | Gain | - |
SCN9A | p.X301_splice | Splice_Site | SNP | 0.483 | 2 | - | - |
SCNM1 | p.G82R | Missense | SNP | 0.413 | 2 | - | - |
SCNN1A | - | - | - | - | 3 | Gain | - |
SCRT1 | p.R3G | Missense | SNP | 0.500 | 2 | - | - |
SCTR | p.P15L | Missense | SNP | 0.439 | 2 | - | - |
SCYL2 | - | - | - | - | 3 | Gain | - |
SDHAF1 | - | - | - | - | 3 | Gain | - |
SDR9C7 | - | - | - | - | 3 | Gain | - |
SDS | - | - | - | - | 3 | Gain | - |
SDSL | - | - | - | - | 3 | Gain | - |
SEC24D | p.H763R | Missense | SNP | 0.566 | 2 | - | - |
SELENOV | - | - | - | - | 3 | Gain | - |
SELENOW | - | - | - | - | 3 | Gain | - |
SELPLG | - | - | - | - | 3 | Gain | - |
SEMA3D | p.R710W | Missense | SNP | 0.485 | 2 | - | - |
SEMA6D | p.A682T p.S710A | Missense Missense | SNP SNP | 0.566 0.562 | 2 | - | - |
SENP1 | - | - | - | - | 3 | Gain | - |
SEPSECS | p.A82T | Missense | SNP | 0.446 | 2 | - | - |
SEPT4 | p.H483Y p.M198I | Missense Missense | SNP SNP | 0.553 0.468 | 2 | - | - |
SERTAD1 | - | - | - | - | 3 | Gain | - |
SERTAD3 | - | - | - | - | 3 | Gain | - |
SESTD1 | p.Q313* | Nonsense | SNP | 0.486 | 2 | - | - |
SETD1B | p.L869R | Missense | SNP | 0.359 | 3 | Gain | - |
SEZ6 | p.T232I | Missense | SNP | 0.475 | 2 | - | - |
SFSWAP | - | - | - | - | 3 | Gain | - |
SH2B3 | - | - | - | - | 3 | Gain | - |
SH2D4A | p.K30E | Missense | SNP | 0.511 | 2 | - | - |
SHANK1 | - | - | - | - | 3 | Gain | - |
SHISA7 | - | - | - | - | 3 | Gain | - |
SHKBP1 | - | - | - | - | 3 | Gain | - |
SHLD2 | - | - | - | - | 1 | Loss | - |
SHMT2 | - | - | - | - | 3 | Gain | - |
SIGLEC10 | - | - | - | - | 3 | Gain | - |
SIGLEC11 | - | - | - | - | 3 | Gain | - |
SIGLEC12 | - | - | - | - | 3 | Gain | - |
SIGLEC14 | - | - | - | - | 3 | Gain | - |
SIGLEC5 | - | - | - | - | 3 | Gain | - |
SIGLEC6 | - | - | - | - | 3 | Gain | - |
SIGLEC7 | - | - | - | - | 3 | Gain | - |
SIGLEC8 | - | - | - | - | 3 | Gain | - |
SIGLEC9 | - | - | - | - | 3 | Gain | - |
SIGLECL1 | - | - | - | - | 3 | Gain | - |
SINHCAF | - | - | - | - | 3 | Gain | - |
SIPA1L3 | p.D245G | Missense | SNP | 0.691 | 3 | Gain | - |
SIRT2 | - | - | - | - | 3 | Gain | - |
SIRT4 | - | - | - | - | 3 | Gain | - |
SIX5 | - | - | - | - | 3 | Gain | - |
SKOR2 | p.V85M | Missense | SNP | 0.500 | 2 | - | - |
SLC11A2 | - | - | - | - | 3 | Gain | - |
SLC12A4 | p.M625T | Missense | SNP | 0.531 | 2 | - | - |
SLC12A8 | p.G632D | Missense | SNP | 0.456 | 2 | - | - |
SLC15A4 | - | - | - | - | 3 | Gain | - |
SLC15A5 | - | - | - | - | 3 | Gain | - |
SLC16A7 | - | - | - | - | 3 | Gain | - |
SLC16A8 | p.R498M | Missense | SNP | 0.440 | 2 | - | - |
SLC17A7 | - | - | - | - | 3 | Gain | - |
SLC17A8 | - | - | - | - | 3 | Gain | - |
SLC1A5 | - | - | - | - | 3 | Gain | - |
SLC25A3 | - | - | - | - | 3 | Gain | - |
SLC25A40 | p.T34S | Missense | SNP | 0.482 | 2 | - | - |
SLC26A10 | - | - | - | - | 3 | Gain | - |
SLC2A13 | - | - | - | - | 3 | Gain | - |
SLC2A14 | - | - | - | - | 3 | Gain | - |
SLC2A3 | - | - | - | - | 3 | Gain | - |
SLC30A4 | p.D281N | Missense | SNP | 0.483 | 2 | - | - |
SLC35E2A | - | - | - | - | 1 | Loss | - |
SLC35E2B | - | - | - | - | 1 | Loss | - |
SLC35E3 | - | - | - | - | 3 | Gain | - |
SLC38A1 | - | - | - | - | 3 | Gain | - |
SLC38A2 | - | - | - | - | 3 | Gain | - |
SLC38A4 | - | - | - | - | 3 | Gain | - |
SLC39A5 | - | - | - | - | 3 | Gain | - |
SLC39A6 | p.H387R | Missense | SNP | 0.486 | 2 | - | - |
SLC41A2 | - | - | - | - | 3 | Gain | - |
SLC45A4 | p.I800F | Missense | SNP | 0.522 | 2 | - | - |
SLC48A1 | - | - | - | - | 3 | Gain | - |
SLC4A3 | p.R1091C | Missense | SNP | 0.432 | 2 | - | - |
SLC4A8 | - | - | - | - | 3 | Gain | - |
SLC5A12 | p.X408_splice | Splice_Site | SNP | 0.575 | 2 | - | - |
SLC5A8 | - | - | - | - | 3 | Gain | - |
SLC6A12 | - | - | - | - | 3 | Gain | - |
SLC6A13 | - | - | - | - | 3 | Gain | - |
SLC6A15 | - | - | - | - | 3 | Gain | - |
SLC6A16 | - | - | - | - | 3 | Gain | - |
SLC6A9 | p.F441V | Missense | SNP | 0.404 | 2 | - | - |
SLC7A10 | - | - | - | - | 3 | Gain | - |
SLC7A9 | - | - | - | - | 3 | Gain | - |
SLC8A2 | - | - | - | - | 3 | Gain | - |
SLC8B1 | - | - | - | - | 3 | Gain | - |
SLCO1A2 | - | - | - | - | 3 | Gain | - |
SLCO1B1 | - | - | - | - | 3 | Gain | - |
SLCO1B3 | - | - | - | - | 3 | Gain | - |
SLCO1B7 | - | - | - | - | 3 | Gain | - |
SLCO1C1 | - | - | - | - | 3 | Gain | - |
SLCO2A1 | p.P535L | Missense | SNP | 0.412 | 2 | - | - |
SLITRK1 | - | - | - | - | 3 | Gain | - |
SLITRK2 | p.R310C | Missense | SNP | 0.553 | ND | ND | - |
SLITRK5 | - | - | - | - | 3 | Gain | - |
SLITRK6 | - | - | - | - | 3 | Gain | - |
SMAGP | - | - | - | - | 3 | Gain | - |
SMARCAL1 | p.K19T | Missense | SNP | 0.488 | 2 | - | - |
SMARCC2 | - | - | - | - | 3 | Gain | - |
SMARCD1 | - | - | - | - | 3 | Gain | - |
SMCO2 | - | - | - | - | 3 | Gain | - |
SMCO3 | - | - | - | - | 3 | Gain | - |
SMG9 | - | - | - | - | 3 | Gain | - |
SMIM17 | - | - | - | - | 3 | Gain | - |
SMTN | p.P25L | Missense | SNP | 0.436 | 2 | - | - |
SMUG1 | - | - | - | - | 3 | Gain | - |
SNAP23 | p.X142_splice | Splice_Site | SNP | 0.477 | 2 | - | - |
SNRNP35 | - | - | - | - | 3 | Gain | - |
SNRNP70 | - | - | - | - | 3 | Gain | - |
SNRPA | - | - | - | - | 3 | Gain | - |
SNRPB | p.R228* | Nonsense | SNP | 0.449 | 2 | - | - |
SNRPD2 | - | - | - | - | 3 | Gain | - |
SNRPF | - | - | - | - | 3 | Gain | - |
SNTB2 | p.V28A | Missense | SNP | 0.441 | 2 | - | - |
SNX19 | p.C91S | Missense | SNP | 0.707 | 2 | - | - |
SOAT2 | - | - | - | - | 3 | Gain | - |
SOCS2 | - | - | - | - | 3 | Gain | - |
SOGA1 | p.L140M | Missense | SNP | 0.544 | 2 | - | - |
SORL1 | p.A377T | Missense | SNP | 0.547 | 2 | - | - |
SORT1 | p.D698N | Missense | SNP | 0.548 | 2 | - | - |
SOX5 | - | - | - | - | 3 | Gain | - |
SP1 | - | - | - | - | 3 | Gain | - |
SP7 | - | - | - | - | 3 | Gain | - |
SPACA4 | - | - | - | - | 3 | Gain | - |
SPACA6 | - | - | - | - | 3 | Gain | - |
SPAG11A | - | - | - | - | 1 | Loss | - |
SPAG11B | - | - | - | - | 1 | Loss | - |
SPAG9 | p.M513V | Missense | SNP | 0.505 | 2 | - | - |
SPAM1 | p.G385* | Nonsense | SNP | 0.491 | 2 | - | - |
SPATS2 | - | - | - | - | 3 | Gain | - |
SPCS1 | - | - | - | - | 3 | Gain | - |
SPEG | p.L1462I | Missense | SNP | 0.547 | 2 | - | - |
SPEN | p.L2662P | Missense | SNP | 0.458 | 2 | - | - |
SPHK2 | - | - | - | - | 3 | Gain | - |
SPIB | - | - | - | - | 3 | Gain | - |
SPIC | - | - | - | - | 3 | Gain | - |
SPINT2 | - | - | - | - | 3 | Gain | - |
SPPL3 | - | - | - | - | 3 | Gain | - |
SPRED2 | p.G125C | Missense | SNP | 0.490 | 2 | - | - |
SPRED3 | - | - | - | - | 3 | Gain | - |
SPRYD3 | - | - | - | - | 3 | Gain | - |
SPRYD4 | - | - | - | - | 3 | Gain | - |
SPSB2 | - | - | - | - | 3 | Gain | - |
SPTBN4 | - | - | - | - | 3 | Gain | - |
SPTLC2 | p.V493A | Missense | SNP | 0.444 | 2 | - | - |
SPTLC3 | p.Q410K | Missense | SNP | 0.441 | 2 | - | - |
SPX | - | - | - | - | 3 | Gain | - |
SREBF2 | p.S879F | Missense | SNP | 0.520 | 2 | - | - |
SRGAP1 | - | - | - | - | 3 | Gain | - |
SRRM2 | p.R2673W | Missense | SNP | 0.553 | 2 | - | - |
SRRM4 | - | - | - | - | 3 | Gain | - |
SRRM5 | - | - | - | - | 3 | Gain | - |
SRSF9 | - | - | - | - | 3 | Gain | - |
SSC5D | - | - | - | - | 3 | Gain | - |
SSH1 | - | - | - | - | 3 | Gain | - |
SSPN | - | - | - | - | 3 | Gain | - |
SSPO | p.E1371G | Missense | SNP | 0.507 | 2 | - | - |
SSTR4 | p.R251M | Missense | SNP | 0.505 | 2 | - | - |
ST8SIA1 | - | - | - | - | 3 | Gain | - |
STAB1 | p.M912T | Missense | SNP | 0.580 | 2 | - | - |
STAB2 | - | - | - | - | 3 | Gain | - |
STAC3 | - | - | - | - | 3 | Gain | - |
STARD5 | p.L141F | Missense | SNP | 0.483 | 2 | - | - |
STARD8 | p.L750P | Missense | SNP | 0.497 | ND | ND | - |
STAT2 | - | - | - | - | 3 | Gain | - |
STAT6 | - | - | - | - | 3 | Gain | - |
STK38L | - | - | - | - | 3 | Gain | - |
STK4 | p.R117Q | Missense | SNP | 0.473 | 2 | - | - |
STMND1 | p.A17V | Missense | SNP | 1.000 | 2 | - | - |
STRAP | - | - | - | - | 3 | Gain | - |
STRN | p.X164_splice | Splice_Site | SNP | 0.525 | 2 | - | - |
STRN4 | - | - | - | - | 3 | Gain | - |
STX2 | - | - | - | - | 3 | Gain | - |
STXBP2 | p.L419P | Missense | SNP | 0.468 | 2 | - | - |
STYK1 | - | - | - | - | 3 | Gain | - |
SUDS3 | - | - | - | - | 3 | Gain | - |
SULT2A1 | - | - | - | - | 3 | Gain | - |
SULT2B1 | - | - | - | - | 3 | Gain | - |
SULT4A1 | p.X202_splice | Splice_Site | SNP | 0.559 | 2 | - | - |
SUN1 | - | - | - | - | 2 | - | AC048338.1--SUN1 |
SUOX | - | - | - | - | 3 | Gain | - |
SUPT5H | - | - | - | - | 3 | Gain | - |
SV2C | p.A676V | Missense | SNP | 0.511 | 2 | - | - |
SVOP | - | - | - | - | 3 | Gain | - |
SYCN | - | - | - | - | 3 | Gain | - |
SYCP2 | p.S1333I | Missense | SNP | 0.481 | 2 | - | - |
SYCP3 | - | - | - | - | 3 | Gain | - |
SYDE2 | p.E992A | Missense | SNP | 0.579 | 2 | - | - |
SYMPK | - | - | - | - | 3 | Gain | - |
SYNE1 | p.A1802S | Missense | SNP | 0.406 | 2 | - | - |
SYNE4 | - | - | - | - | 3 | Gain | - |
SYNGR4 | - | - | - | - | 3 | Gain | - |
SYT1 | - | - | - | - | 3 | Gain | - |
SYT10 | - | - | - | - | 3 | Gain | - |
SYT3 | - | - | - | - | 3 | Gain | - |
SYT5 | - | - | - | - | 3 | Gain | - |
SZT2 | p.L1046V | Missense | SNP | 0.499 | 2 | - | - |
TAC3 | - | - | - | - | 3 | Gain | - |
TAF1 | p.R687H | Missense | SNP | 0.471 | ND | ND | - |
TAF1L | p.R888H | Missense | SNP | 0.512 | 2 | - | - |
TAF5L | p.P201L | Missense | SNP | 0.543 | 2 | - | - |
TAF6 | p.X337_splice | Splice_Site | SNP | 0.472 | 2 | - | - |
TAF6L | p.X146_splice | Splice_Site | SNP | 0.494 | 2 | - | - |
TANC1 | p.A184T | Missense | SNP | 0.468 | 2 | - | - |
TAOK3 | - | - | - | - | 3 | Gain | - |
TAPBPL | - | - | - | - | 3 | Gain | - |
TARBP2 | - | - | - | - | 3 | Gain | - |
TARM1 | - | - | - | - | 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.A687V | Missense | SNP | 0.477 | 2 | - | - |
TBC1D15 | - | - | - | - | 3 | Gain | - |
TBC1D17 | - | - | - | - | 3 | Gain | - |
TBC1D30 | - | - | - | - | 3 | Gain | - |
TBCB | - | - | - | - | 3 | Gain | - |
TBK1 | - | - | - | - | 3 | Gain | - |
TBX3 | - | - | - | - | 3 | Gain | - |
TBX5 | - | - | - | - | 3 | Gain | - |
TBXA2R | p.A52T | Missense | SNP | 0.531 | 2 | - | - |
TCF12 | p.X276_splice | Splice_Site | SNP | 0.505 | 2 | - | - |
TCF25 | p.E148K | Missense | SNP | 0.502 | 2 | - | - |
TCHP | - | - | - | - | 3 | Gain | - |
TCP11L2 | p.E288K | Missense | SNP | 0.652 | 3 | Gain | - |
TCTN1 | - | - | - | - | 3 | Gain | - |
TCTN2 | - | - | - | - | 3 | Gain | - |
TDG | - | - | - | - | 3 | Gain | - |
TDRD12 | - | - | - | - | 3 | Gain | - |
TEAD2 | p.P205T p.K75E | Missense Missense | SNP SNP | 0.339 0.374 | 3 | Gain | - |
TEAD4 | - | - | - | - | 3 | Gain | - |
TEC | p.L454I | Missense | SNP | 0.518 | 2 | - | - |
TEKT1 | p.R413H | Missense | SNP | 0.632 | 2 | - | - |
TENM2 | p.T2563I | Missense | SNP | 0.487 | 2 | - | - |
TESC | - | - | - | - | 3 | Gain | - |
TESMIN | p.V63I | Missense | SNP | 0.516 | 2 | - | - |
TESPA1 | - | - | - | - | 3 | Gain | - |
TEX101 | - | - | - | - | 3 | Gain | - |
TEX38 | p.A122V | Missense | SNP | 0.506 | 2 | - | - |
TEX49 | - | - | - | - | 3 | Gain | - |
TEX52 | - | - | - | - | 3 | Gain | - |
TFAP2B | p.D64G | Missense | SNP | 0.549 | 2 | - | - |
TFCP2 | - | - | - | - | 3 | Gain | - |
TFPT | - | - | - | - | 3 | Gain | - |
TGFB1 | - | - | - | - | 3 | Gain | - |
TGFB3 | p.S412R | Missense | SNP | 0.477 | 2 | - | - |
THADA | p.X1607_splice | Splice_Site | SNP | 0.413 | 2 | - | - |
THAP2 | - | - | - | - | 3 | Gain | - |
THAP8 | - | - | - | - | 3 | Gain | - |
TIAM1 | p.M910T | Missense | SNP | 0.420 | 2 | - | - |
TIGAR | - | - | - | - | 3 | Gain | - |
TIGD7 | p.G100D | Missense | SNP | 0.459 | 2 | - | - |
TIMELESS | - | - | - | - | 3 | Gain | - |
TIMM50 | - | - | - | - | 3 | Gain | - |
TKFC | p.A296T | Missense | SNP | 0.479 | 2 | - | - |
TLN2 | p.H1260R | Missense | SNP | 0.455 | 2 | - | - |
TM7SF3 | - | - | - | - | 3 | Gain | - |
TMBIM4 | - | - | - | - | 3 | Gain | - |
TMBIM6 | - | - | - | - | 3 | Gain | - |
TMC4 | - | - | - | - | 3 | Gain | - |
TMCC3 | - | - | - | - | 3 | Gain | - |
TMED2 | - | - | - | - | 3 | Gain | - |
TMEM106C | - | - | - | - | 3 | Gain | - |
TMEM116 | - | - | - | - | 3 | Gain | - |
TMEM117 | - | - | - | - | 3 | Gain | - |
TMEM119 | - | - | - | - | 3 | Gain | - |
TMEM120B | - | - | - | - | 3 | Gain | - |
TMEM132B | - | - | - | - | 3 | Gain | - |
TMEM132C | - | - | - | - | 3 | Gain | - |
TMEM132D | - | - | - | - | 3 | Gain | - |
TMEM143 | - | - | - | - | 3 | Gain | - |
TMEM145 | - | - | - | - | 3 | Gain | - |
TMEM147 | - | - | - | - | 3 | Gain | - |
TMEM150B | - | - | - | - | 3 | Gain | - |
TMEM160 | - | - | - | - | 3 | Gain | - |
TMEM164 | p.L90M | Missense | SNP | 0.513 | ND | ND | - |
TMEM19 | - | - | - | - | 3 | Gain | - |
TMEM190 | - | - | - | - | 3 | Gain | - |
TMEM233 | - | - | - | - | 3 | Gain | - |
TMEM238 | - | - | - | - | 3 | Gain | - |
TMEM263 | - | - | - | - | 3 | Gain | - |
TMEM52B | - | - | - | - | 3 | Gain | - |
TMEM63A | p.L420P | Missense | SNP | 0.506 | 2 | - | - |
TMEM86B | - | - | - | - | 3 | Gain | - |
TMEM91 | - | - | - | - | 3 | Gain | - |
TMOD4 | p.F315S | Missense | SNP | 0.454 | 2 | - | - |
TMPO | - | - | - | - | 3 | Gain | - |
TMPRSS12 | - | - | - | - | 3 | Gain | - |
TMPRSS15 | p.R871* | Nonsense | SNP | 0.498 | 2 | - | - |
TMTC1 | - | - | - | - | 3 | Gain | - |
TMTC2 | - | - | - | - | 3 | Gain | - |
TMTC3 | - | - | - | - | 3 | Gain | - |
TNFAIP8L1 | p.R53H | Missense | SNP | 0.529 | 2 | - | - |
TNFRSF1A | - | - | - | - | 3 | Gain | - |
TNNI3 | - | - | - | - | 3 | Gain | - |
TNNT1 | - | - | - | - | 3 | Gain | - |
TNPO3 | p.T891I | Missense | SNP | 0.437 | 2 | - | - |
TNR | p.H174R | Missense | SNP | 0.417 | 2 | - | - |
TNS1 | p.*1736Rext*23 p.G1305R | Nonstop Missense | SNP SNP | 0.449 0.505 | 2 | - | - |
TNS2 | - | - | - | - | 3 | Gain | - |
TOMM40 | - | - | - | - | 3 | Gain | - |
TOP2A | p.H559R | Missense | SNP | 0.448 | 2 | - | - |
TOR1AIP1 | p.R580G | Missense | SNP | 0.480 | 2 | - | - |
TPCN1 | - | - | - | - | 3 | Gain | - |
TPH2 | - | - | - | - | 3 | Gain | - |
TPI1 | - | - | - | - | 3 | Gain | - |
TPRX1 | - | - | - | - | 3 | Gain | - |
TRABD | p.A242V | Missense | SNP | 0.512 | 2 | - | - |
TRAFD1 | - | - | - | - | 3 | Gain | - |
TRAPPC6A | - | - | - | - | 3 | Gain | - |
TRAV25 | p.Q29R | Missense | SNP | 0.502 | ND | ND | - |
TRHDE | - | - | - | - | 3 | Gain | - |
TRIAP1 | - | - | - | - | 3 | Gain | - |
TRIB1 | p.R316H | Missense | SNP | 0.498 | 2 | - | - |
TRIB3 | p.P68H | Missense | SNP | 0.466 | 2 | - | - |
TRIM47 | p.P580A | Missense | SNP | 0.495 | 2 | - | - |
TRIM58 | p.A14V | Missense | SNP | 0.448 | 2 | - | - |
TRIM60 | p.F121L | Missense | SNP | 0.517 | 2 | - | - |
TRIO | p.G2658S p.A3052V | Missense Missense | SNP SNP | 0.495 0.480 | 2 | - | - |
TRIP12 | p.K1127N | Missense | SNP | 0.482 | 2 | - | - |
TROAP | - | - | - | - | 3 | Gain | - |
TRPC5 | p.L358M | Missense | SNP | 0.467 | ND | ND | - |
TRPM4 | - | - | - | - | 3 | Gain | - |
TRPS1 | p.P1096T | Missense | SNP | 0.502 | 2 | - | - |
TRPV4 | - | - | - | - | 3 | Gain | - |
TRRAP | p.R1859C | Missense | SNP | 0.519 | 2 | - | - |
TSC1 | p.R160H | Missense | SNP | 0.426 | 2 | - | - |
TSEN34 | - | - | - | - | 3 | Gain | - |
TSFM | - | - | - | - | 3 | Gain | - |
TSHZ3 | - | - | - | - | 3 | Gain | - |
TSKS | - | - | - | - | 3 | Gain | - |
TSNARE1 | p.R41H | Missense | SNP | 0.434 | 2 | - | - |
TSPAN11 | - | - | - | - | 3 | Gain | - |
TSPAN14 | p.V239I | Missense | SNP | 0.553 | 2 | - | - |
TSPAN19 | - | - | - | - | 3 | Gain | - |
TSPAN31 | - | - | - | - | 3 | Gain | - |
TSPAN8 | - | - | - | - | 3 | Gain | - |
TSPAN9 | - | - | - | - | 3 | Gain | - |
TSTD3 | p.L38P | Missense | SNP | 0.384 | 2 | - | - |
TTC6 | p.A243T | Missense | SNP | 0.424 | 2 | - | - |
TTC7A | p.S302N | Missense | SNP | 0.457 | 2 | - | - |
TTC9B | - | - | - | - | 3 | Gain | - |
TTF2 | p.T749A | Missense | SNP | 0.503 | 2 | - | - |
TTLL10 | p.P601L | Missense | SNP | 0.475 | 2 | - | - |
TTN | p.P11620H p.R5678* | Missense Nonsense | SNP SNP | 0.464 0.447 | 2 | - | - |
TTYH1 | - | - | - | - | 3 | Gain | - |
TTYH2 | p.A118V | Missense | SNP | 0.481 | 2 | - | - |
TUBA1A | - | - | - | - | 3 | Gain | - |
TUBA1B | - | - | - | - | 3 | Gain | - |
TUBA1C | - | - | - | - | 3 | Gain | - |
TULP2 | - | - | - | - | 3 | Gain | - |
TULP3 | - | - | - | - | 3 | Gain | - |
TWF1 | - | - | - | - | 3 | Gain | - |
TXNDC2 | p.G25D | Missense | SNP | 0.520 | 2 | - | - |
TXNRD1 | - | - | - | - | 3 | Gain | - |
TYROBP | - | - | - | - | 3 | Gain | - |
U2AF1L4 | - | - | - | - | 3 | Gain | - |
U2AF2 | - | - | - | - | 3 | Gain | - |
UBA2 | - | - | - | - | 3 | Gain | - |
UBC | - | - | - | - | 3 | Gain | - |
UBE2N | - | - | - | - | 3 | Gain | - |
UBE2QL1 | p.X119_splice | Splice_Site | SNP | 0.425 | 2 | - | - |
UBE2S | - | - | - | - | 3 | Gain | - |
UBE3B | - | - | - | - | 3 | Gain | - |
UGT2A1 | p.A493D | Missense | SNP | 0.516 | 2 | - | - |
UGT2A3 | p.A163P | Missense | SNP | 0.488 | 2 | - | - |
UHRF1BP1L | - | - | - | - | 3 | Gain | - |
ULK1 | p.T841M | Missense | SNP | 0.310 | 3 | Gain | - |
UNC119B | - | - | - | - | 3 | Gain | - |
UNCX | p.R298C | Missense | SNP | 0.606 | 2 | - | - |
UNG | - | - | - | - | 3 | Gain | - |
UPK1A | - | - | - | - | 3 | Gain | - |
UQCRFS1 | - | - | - | - | 3 | Gain | - |
URI1 | - | - | - | - | 3 | Gain | - |
USF2 | - | - | - | - | 3 | Gain | - |
USH2A | p.V436I | Missense | SNP | 0.522 | 2 | - | - |
USP15 | p.C791R | Missense | SNP | 0.360 | 3 | Gain | - |
USP17L1 | - | - | - | - | 1 | Loss | - |
USP17L3 | - | - | - | - | 1 | Loss | - |
USP17L4 | - | - | - | - | 1 | Loss | - |
USP17L8 | - | - | - | - | 1 | Loss | - |
USP19 | p.R646C | Missense | SNP | 0.487 | 2 | - | - |
USP30 | - | - | - | - | 3 | Gain | - |
USP34 | p.N2832S | Missense | SNP | 0.521 | 2 | - | - |
USP35 | p.E119K | Missense | SNP | 0.459 | 2 | - | - |
USP44 | - | - | - | - | 3 | Gain | - |
USP5 | - | - | - | - | 3 | Gain | - |
USP6NL | p.G737E | Missense | SNP | 0.492 | 2 | - | - |
UTF1 | p.R311C | Missense | SNP | 0.470 | 2 | - | - |
UTP20 | - | - | - | - | 3 | Gain | - |
VAMP1 | - | - | - | - | 3 | Gain | - |
VASP | - | - | - | - | 3 | Gain | - |
VCAN | p.*355Kext*5 | Nonstop | SNP | 0.526 | 2 | - | - |
VDR | - | - | - | - | 3 | Gain | - |
VEZF1 | p.T233A | Missense | SNP | 0.522 | 2 | - | - |
VEZT | - | - | - | - | 3 | Gain | - |
VN1R2 | - | - | - | - | 3 | Gain | - |
VN1R4 | - | - | - | - | 3 | Gain | - |
VPS13D | p.T3598I | Missense | SNP | 0.412 | 2 | - | - |
VPS18 | p.S59C | Missense | SNP | 0.476 | 2 | - | - |
VPS29 | - | - | - | - | 3 | Gain | - |
VPS33A | - | - | - | - | 3 | Gain | - |
VPS37B | - | - | - | - | 3 | Gain | - |
VPS53 | p.G419A | Missense | SNP | 0.442 | 2 | - | - |
VRK3 | - | - | - | - | 3 | Gain | - |
VSIG10 | - | - | - | - | 3 | Gain | - |
VSIG10L | - | - | - | - | 3 | Gain | - |
VSTM1 | - | - | - | - | 3 | Gain | - |
VSTM2B | - | - | - | - | 3 | Gain | - |
VWF | - | - | - | - | 3 | Gain | - |
WASHC3 | - | - | - | - | 3 | Gain | - |
WASHC4 | - | - | - | - | 3 | Gain | - |
WBP11 | - | - | - | - | 3 | Gain | - |
WDR3 | p.E707D | Missense | SNP | 0.504 | 2 | - | - |
WDR34 | p.Q160H | Missense | SNP | 0.467 | 2 | - | - |
WDR37 | p.X242_splice | Splice_Site | SNP | 0.433 | 2 | - | - |
WDR62 | - | - | - | - | 3 | Gain | - |
WDR66 | - | - | - | - | 3 | Gain | - |
WDR87 | - | - | - | - | 3 | Gain | - |
WDR88 | - | - | - | - | 3 | Gain | - |
WIF1 | - | - | - | - | 3 | Gain | - |
WNK1 | - | - | - | - | 3 | Gain | - |
WNT1 | - | - | - | - | 3 | Gain | - |
WNT10B | - | - | - | - | 3 | Gain | - |
WNT5B | - | - | - | - | 3 | Gain | - |
WSB2 | - | - | - | - | 3 | Gain | - |
WSCD2 | - | - | - | - | 3 | Gain | - |
WT1 | p.A109V | Missense | SNP | 0.452 | 2 | - | - |
WTIP | - | - | - | - | 3 | Gain | - |
XPOT | - | - | - | - | 3 | Gain | - |
XRCC1 | - | - | - | - | 3 | Gain | - |
YAF2 | - | - | - | - | 3 | Gain | - |
YARS2 | - | - | - | - | 3 | Gain | - |
YBX3 | - | - | - | - | 3 | Gain | - |
YEATS2 | p.A913T | Missense | SNP | 0.429 | 2 | - | - |
YEATS4 | - | - | - | - | 3 | Gain | - |
YIF1B | - | - | - | - | 3 | Gain | - |
YIPF2 | p.E68Q | Missense | SNP | 0.513 | 2 | - | - |
YTHDC2 | p.V1008I | Missense | SNP | 0.553 | 2 | - | - |
ZBTB32 | - | - | - | - | 3 | Gain | - |
ZBTB39 | - | - | - | - | 3 | Gain | - |
ZBTB40 | p.A1174V | Missense | SNP | 0.484 | 2 | - | - |
ZC3H10 | - | - | - | - | 3 | Gain | - |
ZC3H4 | - | - | - | - | 3 | Gain | - |
ZCCHC14 | p.A852T | Missense | DNP | 0.426 | 2 | - | - |
ZCCHC8 | - | - | - | - | 3 | Gain | - |
ZCRB1 | p.S168G | Missense | SNP | 0.400 | 3 | Gain | - |
ZDHHC11 | p.Q45H | Missense | SNP | 0.436 | 2 | - | - |
ZDHHC17 | - | - | - | - | 3 | Gain | - |
ZFAND2A | p.M149T | Missense | SNP | 0.411 | 2 | - | - |
ZFC3H1 | - | - | - | - | 3 | Gain | - |
ZFP14 | - | - | - | - | 3 | Gain | - |
ZFP28 | - | - | - | - | 3 | Gain | - |
ZFP30 | - | - | - | - | 3 | Gain | - |
ZFP36 | - | - | - | - | 3 | Gain | - |
ZFP37 | p.T637A | Missense | SNP | 0.478 | 2 | - | - |
ZFP82 | - | - | - | - | 3 | Gain | - |
ZFYVE1 | p.R54C | Missense | SNP | 0.467 | 2 | - | - |
ZG16 | p.V131I | Missense | SNP | 0.560 | 2 | - | - |
ZHX3 | p.V93M | Missense | SNP | 0.451 | 2 | - | - |
ZIM2 | - | - | - | - | 3 | Gain | - |
ZNF10 | - | - | - | - | 3 | Gain | - |
ZNF112 | - | - | - | - | 3 | Gain | - |
ZNF114 | - | - | - | - | 3 | Gain | - |
ZNF140 | - | - | - | - | 3 | Gain | - |
ZNF142 | p.C1259Y | Missense | SNP | 0.484 | 2 | - | - |
ZNF146 | - | - | - | - | 3 | Gain | - |
ZNF155 | - | - | - | - | 3 | Gain | - |
ZNF160 | - | - | - | - | 3 | Gain | - |
ZNF175 | - | - | - | - | 3 | Gain | - |
ZNF180 | - | - | - | - | 3 | Gain | - |
ZNF181 | - | - | - | - | 3 | Gain | - |
ZNF221 | - | - | - | - | 3 | Gain | - |
ZNF222 | - | - | - | - | 3 | Gain | - |
ZNF223 | - | - | - | - | 3 | Gain | - |
ZNF224 | - | - | - | - | 3 | Gain | - |
ZNF225 | - | - | - | - | 3 | Gain | - |
ZNF226 | - | - | - | - | 3 | Gain | - |
ZNF227 | p.M83I | Missense | SNP | 0.606 | 3 | Gain | - |
ZNF229 | - | - | - | - | 3 | Gain | - |
ZNF230 | - | - | - | - | 3 | Gain | - |
ZNF233 | - | - | - | - | 3 | Gain | - |
ZNF234 | - | - | - | - | 3 | Gain | - |
ZNF235 | - | - | - | - | 3 | Gain | - |
ZNF236 | p.V359I | Missense | SNP | 0.462 | 2 | - | - |
ZNF26 | - | - | - | - | 3 | Gain | - |
ZNF260 | - | - | - | - | 3 | Gain | - |
ZNF268 | - | - | - | - | 3 | Gain | - |
ZNF28 | - | - | - | - | 3 | Gain | - |
ZNF283 | - | - | - | - | 3 | Gain | - |
ZNF284 | - | - | - | - | 3 | Gain | - |
ZNF285 | - | - | - | - | 3 | Gain | - |
ZNF296 | - | - | - | - | 3 | Gain | - |
ZNF30 | - | - | - | - | 3 | Gain | - |
ZNF302 | - | - | - | - | 3 | Gain | - |
ZNF320 | - | - | - | - | 3 | Gain | - |
ZNF331 | - | - | - | - | 3 | Gain | - |
ZNF345 | - | - | - | - | 3 | Gain | - |
ZNF347 | - | - | - | - | 3 | Gain | - |
ZNF350 | - | - | - | - | 3 | Gain | - |
ZNF382 | - | - | - | - | 3 | Gain | - |
ZNF383 | - | - | - | - | 3 | Gain | - |
ZNF384 | - | - | - | - | 3 | Gain | - |
ZNF385A | p.L323Q | Missense | SNP | 0.709 | 3 | Gain | - |
ZNF404 | - | - | - | - | 3 | Gain | - |
ZNF415 | - | - | - | - | 3 | Gain | - |
ZNF420 | p.K361N p.T455P | Missense Missense | SNP SNP | 0.136 0.628 | 3 | Gain | - |
ZNF428 | - | - | - | - | 3 | Gain | - |
ZNF432 | - | - | - | - | 3 | Gain | - |
ZNF444 | - | - | - | - | 3 | Gain | - |
ZNF449 | p.E376G | Missense | SNP | 0.527 | ND | ND | - |
ZNF45 | - | - | - | - | 3 | Gain | - |
ZNF461 | - | - | - | - | 3 | Gain | - |
ZNF468 | - | - | - | - | 3 | Gain | - |
ZNF470 | - | - | - | - | 3 | Gain | - |
ZNF471 | - | - | - | - | 3 | Gain | - |
ZNF473 | - | - | - | - | 3 | Gain | - |
ZNF480 | - | - | - | - | 3 | Gain | - |
ZNF507 | - | - | - | - | 3 | Gain | - |
ZNF516 | p.A574P | Missense | SNP | 0.521 | 2 | - | - |
ZNF521 | p.V556A | Missense | SNP | 0.566 | 2 | - | - |
ZNF524 | - | - | - | - | 3 | Gain | - |
ZNF525 | - | - | - | - | 3 | Gain | - |
ZNF526 | - | - | - | - | 3 | Gain | - |
ZNF527 | p.Y540* | Nonsense | SNP | 0.348 | 3 | Gain | - |
ZNF528 | - | - | - | - | 3 | Gain | - |
ZNF529 | - | - | - | - | 3 | Gain | - |
ZNF534 | - | - | - | - | 3 | Gain | - |
ZNF536 | p.A267T | Missense | SNP | 0.590 | 3 | Gain | - |
ZNF540 | - | - | - | - | 3 | Gain | - |
ZNF541 | - | - | - | - | 3 | Gain | - |
ZNF546 | - | - | - | - | 3 | Gain | - |
ZNF560 | p.S305P | Missense | SNP | 0.525 | 2 | - | - |
ZNF565 | - | - | - | - | 3 | Gain | - |
ZNF566 | - | - | - | - | 3 | Gain | - |
ZNF567 | - | - | - | - | 3 | Gain | - |
ZNF568 | - | - | - | - | 3 | Gain | - |
ZNF569 | - | - | - | - | 3 | Gain | - |
ZNF570 | - | - | - | - | 3 | Gain | - |
ZNF571 | - | - | - | - | 3 | Gain | - |
ZNF573 | - | - | - | - | 3 | Gain | - |
ZNF574 | - | - | - | - | 3 | Gain | - |
ZNF575 | - | - | - | - | 3 | Gain | - |
ZNF576 | - | - | - | - | 3 | Gain | - |
ZNF577 | - | - | - | - | 3 | Gain | - |
ZNF578 | - | - | - | - | 3 | Gain | - |
ZNF579 | - | - | - | - | 3 | Gain | - |
ZNF580 | - | - | - | - | 3 | Gain | - |
ZNF581 | - | - | - | - | 3 | Gain | - |
ZNF582 | - | - | - | - | 3 | Gain | - |
ZNF583 | - | - | - | - | 3 | Gain | - |
ZNF585A | - | - | - | - | 3 | Gain | - |
ZNF585B | - | - | - | - | 3 | Gain | - |
ZNF599 | - | - | - | - | 3 | Gain | - |
ZNF600 | - | - | - | - | 3 | Gain | - |
ZNF605 | - | - | - | - | 3 | Gain | - |
ZNF607 | - | - | - | - | 3 | Gain | - |
ZNF610 | - | - | - | - | 3 | Gain | - |
ZNF611 | - | - | - | - | 3 | Gain | - |
ZNF613 | - | - | - | - | 3 | Gain | - |
ZNF614 | - | - | - | - | 3 | Gain | - |
ZNF615 | - | - | - | - | 3 | Gain | - |
ZNF616 | - | - | - | - | 3 | Gain | - |
ZNF628 | - | - | - | - | 3 | Gain | - |
ZNF641 | - | - | - | - | 3 | Gain | - |
ZNF649 | - | - | - | - | 3 | Gain | - |
ZNF653 | p.E531K | Missense | SNP | 0.458 | 2 | - | - |
ZNF664 | - | - | - | - | 3 | Gain | - |
ZNF665 | - | - | - | - | 3 | Gain | - |
ZNF667 | - | - | - | - | 3 | Gain | - |
ZNF677 | p.P231H | Missense | SNP | 0.126 | 3 | Gain | - |
ZNF701 | - | - | - | - | 3 | Gain | - |
ZNF705A | - | - | - | - | 3 | Gain | - |
ZNF71 | - | - | - | - | 3 | Gain | - |
ZNF740 | - | - | - | - | 3 | Gain | - |
ZNF761 | - | - | - | - | 3 | Gain | - |
ZNF765 | - | - | - | - | 3 | Gain | - |
ZNF766 | - | - | - | - | 3 | Gain | - |
ZNF780A | - | - | - | - | 3 | Gain | - |
ZNF780B | - | - | - | - | 3 | Gain | - |
ZNF781 | - | - | - | - | 3 | Gain | - |
ZNF784 | p.E84K | Missense | SNP | 0.637 | 3 | Gain | - |
ZNF787 | - | - | - | - | 3 | Gain | - |
ZNF790 | - | - | - | - | 3 | Gain | - |
ZNF792 | - | - | - | - | 3 | Gain | - |
ZNF793 | - | - | - | - | 3 | Gain | - |
ZNF8 | p.Q22R | Missense | SNP | 0.380 | 2 | - | - |
ZNF800 | p.R493C | Missense | SNP | 0.471 | 2 | - | - |
ZNF808 | - | - | - | - | 3 | Gain | - |
ZNF813 | - | - | - | - | 3 | Gain | - |
ZNF816 | - | - | - | - | 3 | Gain | - |
ZNF816-ZNF321P | - | - | - | - | 3 | Gain | - |
ZNF829 | - | - | - | - | 3 | Gain | - |
ZNF83 | - | - | - | - | 3 | Gain | - |
ZNF835 | - | - | - | - | 3 | Gain | - |
ZNF836 | - | - | - | - | 3 | Gain | - |
ZNF84 | - | - | - | - | 3 | Gain | - |
ZNF841 | - | - | - | - | 3 | Gain | - |
ZNF845 | - | - | - | - | 3 | Gain | - |
ZNF850 | - | - | - | - | 3 | Gain | - |
ZNF865 | - | - | - | - | 3 | Gain | - |
ZNF880 | - | - | - | - | 3 | Gain | - |
ZNF888 | - | - | - | - | 3 | Gain | - |
ZNF891 | - | - | - | - | 3 | Gain | - |
ZNF91 | p.R906G | Missense | SNP | 0.523 | 2 | - | - |
ZNRF3 | p.W120* p.R246H | Nonsense Missense | SNP SNP | 0.457 0.506 | 2 | - | - |
ZSCAN5A | - | - | - | - | 3 | Gain | - |
ZSCAN5B | - | - | - | - | 3 | Gain | - |
ZSCAN5C | - | - | - | - | 3 | Gain | - |
ZSWIM4 | p.D113A | Missense | SNP | 0.528 | 2 | - | - |
ZSWIM9 | - | - | - | - | 3 | Gain | - |