Variant Type | Calling Status |
---|---|
Mutations | Called |
Copy number | Called |
Fusions | No Data |
Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
---|---|---|---|---|---|---|---|
A1CF | - | - | - | - | 1 | Loss | ND |
A2M | p.D1441N | Missense | SNP | 0.317 | 2 | - | ND |
A3GALT2 | - | - | - | - | 3 | Gain | ND |
AADAC | p.N298T | Missense | SNP | 0.227 | 2 | - | ND |
AADACL3 | p.G123S | Missense | SNP | 0.609 | 3 | Gain | ND |
AADACL4 | - | - | - | - | 3 | Gain | ND |
AADAT | - | - | - | - | 3 | Gain | ND |
AAGAB | - | - | - | - | 3 | Gain | ND |
AARS | - | - | - | - | 1 | Loss | ND |
AASS | - | - | - | - | 3 | Gain | ND |
ABCA1 | p.P1546S | Missense | SNP | 0.265 | 2 | - | ND |
ABCA10 | p.P864L | Missense | SNP | 0.688 | 2 | - | ND |
ABCA12 | p.E2209K p.R1960Q p.Q223* | Missense Missense Nonsense | SNP SNP SNP | 0.487 0.234 0.284 | 2 | - | ND |
ABCA13 | p.A4131V | Missense | SNP | 0.354 | 3 | Gain | ND |
ABCA3 | p.P72L | Missense | SNP | 0.286 | 2 | - | ND |
ABCB1 | p.G763R | Missense | SNP | 0.322 | 3 | Gain | ND |
ABCB10 | - | - | - | - | 3 | Gain | ND |
ABCB4 | - | - | - | - | 3 | Gain | ND |
ABCB5 | - | - | - | - | 3 | Gain | ND |
ABCB8 | - | - | - | - | 3 | Gain | ND |
ABCC11 | - | - | - | - | 1 | Loss | ND |
ABCC12 | - | - | - | - | 1 | Loss | ND |
ABCC4 | p.G1053D | Missense | SNP | 0.350 | 2 | - | ND |
ABCC8 | p.S348F | Missense | SNP | 0.281 | 2 | - | ND |
ABCE1 | - | - | - | - | 3 | Gain | ND |
ABCF2 | - | - | - | - | 3 | Gain | ND |
ABCG2 | - | - | - | - | 1 | Loss | ND |
ABCG4 | p.S69F | Missense | SNP | 0.329 | 2 | - | ND |
ABHD11 | - | - | - | - | 3 | Gain | ND |
ABHD17C | - | - | - | - | 3 | Gain | ND |
ABHD18 | - | - | - | - | 3 | Gain | ND |
ABHD2 | - | - | - | - | 3 | Gain | ND |
ABI1 | - | - | - | - | 1 | Loss | ND |
ABL1 | p.P872L | Missense | SNP | 1.000 | 2 | - | ND |
ABL2 | - | - | - | - | 3 | Gain | ND |
ABLIM3 | p.P11S | Missense | SNP | 0.287 | 2 | - | ND |
ABRAXAS1 | - | - | - | - | 1 | Loss | ND |
AC000120.2 | - | - | - | - | 3 | Gain | ND |
AC000120.3 | - | - | - | - | 3 | Gain | ND |
AC004080.3 | - | - | - | - | 3 | Gain | ND |
AC004593.3 | - | - | - | - | 3 | Gain | ND |
AC004691.2 | - | - | - | - | 3 | Gain | ND |
AC004832.3 | - | - | - | - | 3 | Gain | ND |
AC004922.1 | - | - | - | - | 3 | Gain | ND |
AC004997.1 | - | - | - | - | 3 | Gain | ND |
AC005020.2 | - | - | - | - | 3 | Gain | ND |
AC005154.5 | - | - | - | - | 3 | Gain | ND |
AC006978.2 | - | - | - | - | 3 | Gain | ND |
AC007326.4 | - | - | - | - | 3 | Gain | ND |
AC007731.5 | - | - | - | - | 3 | Gain | ND |
AC009119.2 | - | - | - | - | 1 | Loss | ND |
AC009163.2 | - | - | - | - | 1 | Loss | ND |
AC009163.4 | - | - | - | - | 1 | Loss | ND |
AC009690.1 | - | - | - | - | 3 | Gain | ND |
AC009690.3 | - | - | - | - | 3 | Gain | ND |
AC010132.3 | - | - | - | - | 3 | Gain | ND |
AC010531.1 | - | - | - | - | 1 | Loss | ND |
AC010542.3 | - | - | - | - | 1 | Loss | ND |
AC010547.4 | - | - | - | - | 1 | Loss | ND |
AC011005.1 | - | - | - | - | 3 | Gain | ND |
AC011330.3 | - | - | - | - | 0 | Del | ND |
AC012184.2 | - | - | - | - | 1 | Loss | ND |
AC013394.1 | - | - | - | - | 3 | Gain | ND |
AC013489.1 | - | - | - | - | 3 | Gain | ND |
AC018554.3 | - | - | - | - | 1 | Loss | ND |
AC018709.1 | - | - | - | - | 3 | Gain | ND |
AC019117.2 | - | - | - | - | 3 | Gain | ND |
AC021097.2 | - | - | - | - | 3 | Gain | ND |
AC021097.3 | - | - | - | - | 3 | Gain | ND |
AC025287.4 | - | - | - | - | 1 | Loss | ND |
AC026464.1 | - | - | - | - | 1 | Loss | ND |
AC026464.3 | - | - | - | - | 1 | Loss | ND |
AC026464.4 | - | - | - | - | 1 | Loss | ND |
AC026464.6 | - | - | - | - | 1 | Loss | ND |
AC027644.4 | - | - | - | - | 3 | Gain | ND |
AC040162.1 | - | - | - | - | 1 | Loss | ND |
AC068533.4 | - | - | - | - | 3 | Gain | ND |
AC068831.7 | - | - | - | - | 3 | Gain | ND |
AC069368.1 | - | - | - | - | 3 | Gain | ND |
AC073111.3 | - | - | - | - | 3 | Gain | ND |
AC073111.5 | - | - | - | - | 3 | Gain | ND |
AC074143.1 | - | - | - | - | 1 | Loss | ND |
AC087632.1 | - | - | - | - | 3 | Gain | ND |
AC090517.4 | - | - | - | - | 3 | Gain | ND |
AC091057.6 | - | - | - | - | 3 | Gain | ND |
AC091167.2 | - | - | - | - | 3 | Gain | ND |
AC091167.6 | - | - | - | - | 3 | Gain | ND |
AC091167.7 | - | - | - | - | 3 | Gain | ND |
AC092017.3 | - | - | - | - | 3 | Gain | ND |
AC092143.1 | - | - | - | - | 1 | Loss | ND |
AC092647.5 | - | - | - | - | 3 | Gain | ND |
AC092718.3 | - | - | - | - | 1 | Loss | ND |
AC092718.8 | - | - | - | - | 1 | Loss | ND |
AC093668.1 | - | - | - | - | 3 | Gain | ND |
AC093668.2 | - | - | - | - | 3 | Gain | ND |
AC093668.3 | - | - | - | - | 3 | Gain | ND |
AC093827.5 | - | - | - | - | 1 | Loss | ND |
AC098582.1 | - | - | - | - | 1 | Loss | ND |
AC098588.1 | - | - | - | - | 3 | Gain | ND |
AC104151.1 | - | - | - | - | 1 | Loss | ND |
AC105052.1 | - | - | - | - | 3 | Gain | ND |
AC105052.3 | - | - | - | - | 3 | Gain | ND |
AC107871.1 | - | - | - | - | 3 | Gain | ND |
AC114490.2 | - | - | - | - | 3 | Gain | ND |
AC114490.3 | - | - | - | - | 3 | Gain | ND |
AC115220.1 | - | - | - | - | 3 | Gain | ND |
AC118470.1 | - | - | - | - | 3 | Gain | ND |
AC124312.1 | - | - | - | - | 3 | Gain | ND |
AC126283.2 | - | - | - | - | 1 | Loss | ND |
AC134980.3 | - | - | - | - | 3 | Gain | ND |
AC135068.1 | - | - | - | - | 3 | Gain | ND |
AC135068.3 | - | - | - | - | 3 | Gain | ND |
AC187653.1 | - | - | - | - | 3 | Gain | ND |
AC245033.1 | - | - | - | - | 3 | Gain | ND |
AC253536.7 | - | - | - | - | 3 | Gain | ND |
ACAD9 | p.S474F | Missense | SNP | 0.507 | 2 | - | ND |
ACAN | p.P228S | Missense | SNP | 0.237 | 3 | Gain | ND |
ACAP3 | - | - | - | - | 3 | Gain | ND |
ACBD3 | - | - | - | - | 3 | Gain | ND |
ACBD5 | - | - | - | - | 1 | Loss | ND |
ACBD6 | - | - | - | - | 3 | Gain | ND |
ACBD7 | - | - | - | - | 1 | Loss | ND |
ACD | - | - | - | - | 1 | Loss | ND |
ACER2 | - | - | - | - | 0 | Del | ND |
ACHE | - | - | - | - | 3 | Gain | ND |
ACKR1 | - | - | - | - | 3 | Gain | ND |
ACO1 | - | - | - | - | 0 | Del | ND |
ACOT7 | - | - | - | - | 3 | Gain | ND |
ACRV1 | p.G166D | Missense | SNP | 0.333 | 2 | - | ND |
ACSBG1 | - | - | - | - | 3 | Gain | ND |
ACSF3 | - | - | - | - | 1 | Loss | ND |
ACSL1 | - | - | - | - | 3 | Gain | ND |
ACSM1 | p.V489M | Missense | DNP | 0.314 | 2 | - | ND |
ACSM2A | p.S202F p.P403L | Missense Missense | SNP SNP | 0.451 0.284 | 2 | - | ND |
ACSM5 | p.V503I | Missense | SNP | 0.562 | 2 | - | ND |
ACTA1 | - | - | - | - | 3 | Gain | ND |
ACTB | - | - | - | - | 3 | Gain | ND |
ACTBL2 | - | - | - | - | 3 | Gain | ND |
ACTL6B | - | - | - | - | 3 | Gain | ND |
ACTL8 | - | - | - | - | 3 | Gain | ND |
ACTN2 | - | - | - | - | 3 | Gain | ND |
ACTR3B | - | - | - | - | 3 | Gain | ND |
ACTR3C | - | - | - | - | 3 | Gain | ND |
ACTRT2 | - | - | - | - | 3 | Gain | ND |
ADA2 | - | - | - | - | 3 | Gain | ND |
ADAD1 | - | - | - | - | 1 | Loss | ND |
ADAD2 | - | - | - | - | 1 | Loss | ND |
ADAM10 | - | - | - | - | 3 | Gain | ND |
ADAM15 | - | - | - | - | 3 | Gain | ND |
ADAM2 | p.S440L | Missense | SNP | 0.359 | 2 | - | ND |
ADAM20 | p.Q3* | Nonsense | SNP | 0.271 | 2 | - | ND |
ADAM22 | - | - | - | - | 3 | Gain | ND |
ADAM28 | p.E114K | Missense | SNP | 0.354 | 2 | - | ND |
ADAM29 | - | - | - | - | 3 | Gain | ND |
ADAM8 | - | - | - | - | 1 | Loss | ND |
ADAMTS17 | - | - | - | - | 3 | Gain | ND |
ADAMTS18 | - | - | - | - | 1 | Loss | ND |
ADAMTS19 | p.G560E | Missense | SNP | 0.360 | 2 | - | ND |
ADAMTS20 | p.E23K | Missense | SNP | 0.649 | 2 | - | ND |
ADAMTS4 | - | - | - | - | 3 | Gain | ND |
ADAMTS5 | p.E357K | Missense | SNP | 0.678 | 2 | - | ND |
ADAMTS7 | - | - | - | - | 3 | Gain | ND |
ADAMTS9 | p.S1825F p.L1609V | Missense Missense | SNP SNP | 0.500 0.498 | 2 | - | ND |
ADAMTSL1 | - | - | - | - | 0 | Del | ND |
ADAMTSL3 | - | - | - | - | 3 | Gain | ND |
ADAP1 | - | - | - | - | 3 | Gain | ND |
ADAR | - | - | - | - | 3 | Gain | ND |
ADARB2 | - | - | - | - | 1 | Loss | ND |
ADAT1 | - | - | - | - | 1 | Loss | ND |
ADCY1 | - | - | - | - | 3 | Gain | ND |
ADCY10 | - | - | - | - | 3 | Gain | ND |
ADCY7 | - | - | - | - | 1 | Loss | ND |
ADCYAP1R1 | - | - | - | - | 3 | Gain | ND |
ADD1 | p.P413S | Missense | SNP | 0.274 | 3 | Gain | ND |
ADGRA1 | - | - | - | - | 1 | Loss | ND |
ADGRB1 | p.G297S | Missense | SNP | 0.615 | 2 | - | ND |
ADGRE1 | p.S218L | Missense | SNP | 0.195 | 2 | - | ND |
ADGRE3 | p.G229R | Missense | SNP | 0.441 | 2 | - | ND |
ADGRE5 | p.G436S | Missense | SNP | 0.259 | 2 | - | ND |
ADGRG1 | - | - | - | - | 1 | Loss | ND |
ADGRG3 | - | - | - | - | 1 | Loss | ND |
ADGRG5 | - | - | - | - | 1 | Loss | ND |
ADGRL2 | p.E1081K p.H1168Y | Missense Missense | SNP SNP | 0.119 0.439 | 2 | - | ND |
ADGRL4 | p.V666A | Missense | SNP | 0.764 | 2 | - | ND |
ADGRV1 | p.G8E p.E230K p.S3561L | Missense Missense Missense | SNP SNP SNP | 0.261 0.372 0.286 | 2 | - | ND |
ADH1A | - | - | - | - | 1 | Loss | ND |
ADH1B | - | - | - | - | 1 | Loss | ND |
ADH1C | - | - | - | - | 1 | Loss | ND |
ADH4 | - | - | - | - | 1 | Loss | ND |
ADH5 | - | - | - | - | 1 | Loss | ND |
ADH6 | - | - | - | - | 1 | Loss | ND |
ADH7 | - | - | - | - | 1 | Loss | ND |
ADIPOR1 | - | - | - | - | 3 | Gain | ND |
ADORA1 | - | - | - | - | 3 | Gain | ND |
ADORA2A | - | - | - | - | 3 | Gain | ND |
ADPGK | - | - | - | - | 3 | Gain | ND |
ADPRHL2 | - | - | - | - | 3 | Gain | ND |
ADSL | - | - | - | - | 3 | Gain | ND |
ADSS | - | - | - | - | 3 | Gain | ND |
AEBP1 | - | - | - | - | 3 | Gain | ND |
AEN | - | - | - | - | 3 | Gain | ND |
AES | p.P219L | Missense | SNP | 0.259 | 2 | - | ND |
AFF1 | - | - | - | - | 1 | Loss | ND |
AFMID | p.D82N | Missense | SNP | 0.312 | 2 | - | ND |
AGA | - | - | - | - | 3 | Gain | ND |
AGAP3 | - | - | - | - | 3 | Gain | ND |
AGBL1 | p.P434S | Missense | SNP | 0.583 | 3 | Gain | ND |
AGBL2 | p.R319C | Missense | SNP | 0.283 | 2 | - | ND |
AGFG2 | - | - | - | - | 3 | Gain | ND |
AGMAT | - | - | - | - | 3 | Gain | ND |
AGMO | - | - | - | - | 3 | Gain | ND |
AGO1 | - | - | - | - | 3 | Gain | ND |
AGO3 | - | - | - | - | 3 | Gain | ND |
AGO4 | - | - | - | - | 3 | Gain | ND |
AGR2 | - | - | - | - | 3 | Gain | ND |
AGR3 | - | - | - | - | 3 | Gain | ND |
AGRN | - | - | - | - | 3 | Gain | ND |
AGRP | - | - | - | - | 1 | Loss | ND |
AGT | - | - | - | - | 3 | Gain | ND |
AGTRAP | p.R57* | Nonsense | SNP | 0.599 | 3 | Gain | ND |
AHCTF1 | - | - | - | - | 3 | Gain | ND |
AHCYL2 | - | - | - | - | 3 | Gain | ND |
AHDC1 | - | - | - | - | 3 | Gain | ND |
AHNAK | p.V4219I | Missense | SNP | 0.283 | 2 | - | ND |
AHNAK2 | p.P907L | Missense | SNP | 0.388 | 2 | - | ND |
AHR | - | - | - | - | 3 | Gain | ND |
AIDA | - | - | - | - | 3 | Gain | ND |
AIFM2 | p.P101L | Missense | SNP | 0.321 | 2 | - | ND |
AIFM3 | - | - | - | - | 3 | Gain | ND |
AIM1 | p.P746S | Missense | SNP | 0.382 | ND | ND | ND |
AIM2 | - | - | - | - | 3 | Gain | ND |
AIMP1 | - | - | - | - | 1 | Loss | ND |
AIMP2 | - | - | - | - | 3 | Gain | ND |
AJAP1 | - | - | - | - | 3 | Gain | ND |
AK2 | - | - | - | - | 3 | Gain | ND |
AK3 | - | - | - | - | 0 | Del | ND |
AK5 | p.P85L | Missense | SNP | 0.740 | 2 | - | ND |
AKAP11 | p.L1170F | Missense | SNP | 0.672 | 2 | - | ND |
AKAP13 | - | - | - | - | 3 | Gain | ND |
AKAP6 | p.S701F p.S1508L | Missense Missense | SNP SNP | 0.371 0.271 | 2 | - | ND |
AKAP9 | p.E679K | Missense | SNP | 0.312 | 3 | Gain | ND |
AKR1C1 | - | - | - | - | 1 | Loss | ND |
AKR1C2 | - | - | - | - | 1 | Loss | ND |
AKR1C3 | - | - | - | - | 1 | Loss | ND |
AKR1C4 | - | - | - | - | 1 | Loss | ND |
AKR1C8P | - | - | - | - | 1 | Loss | ND |
AKR1E2 | - | - | - | - | 1 | Loss | ND |
AKR7A2 | - | - | - | - | 3 | Gain | ND |
AKR7A3 | - | - | - | - | 3 | Gain | ND |
AKR7L | - | - | - | - | 3 | Gain | ND |
AKT3 | - | - | - | - | 3 | Gain | ND |
AKTIP | - | - | - | - | 1 | Loss | ND |
AL020996.2 | - | - | - | - | 3 | Gain | ND |
AL022238.4 | - | - | - | - | 3 | Gain | ND |
AL022318.4 | - | - | - | - | 3 | Gain | ND |
AL031281.2 | - | - | - | - | 3 | Gain | ND |
AL031847.2 | - | - | - | - | 3 | Gain | ND |
AL033529.1 | - | - | - | - | 3 | Gain | ND |
AL080251.1 | - | - | - | - | 3 | Gain | ND |
AL109811.4 | - | - | - | - | 3 | Gain | ND |
AL117339.5 | - | - | - | - | 1 | Loss | ND |
AL117348.2 | - | - | - | - | 3 | Gain | ND |
AL133410.3 | - | - | - | - | 1 | Loss | ND |
AL138752.2 | - | - | - | - | 1 | Loss | ND |
AL139011.2 | - | - | - | - | 3 | Gain | ND |
AL139142.2 | - | - | - | - | 3 | Gain | ND |
AL157392.5 | - | - | - | - | 1 | Loss | ND |
AL162231.1 | - | - | - | - | 0 | Del | ND |
AL162231.3 | - | - | - | - | 0 | Del | ND |
AL358472.6 | - | - | - | - | 3 | Gain | ND |
AL358472.7 | - | - | - | - | 3 | Gain | ND |
AL359922.1 | - | - | - | - | 0 | Del | ND |
AL360181.3 | - | - | - | - | 1 | Loss | ND |
AL512785.2 | - | - | - | - | 3 | Gain | ND |
AL513165.2 | - | - | - | - | 1 | Loss | ND |
AL590132.1 | - | - | - | - | 3 | Gain | ND |
AL591806.3 | - | - | - | - | 3 | Gain | ND |
AL691442.1 | - | - | - | - | 3 | Gain | ND |
AL713999.1 | - | - | - | - | 3 | Gain | ND |
ALDH1A2 | - | - | - | - | 3 | Gain | ND |
ALDH1A3 | - | - | - | - | 3 | Gain | ND |
ALDH1B1 | - | - | - | - | 1 | Loss | ND |
ALDH4A1 | - | - | - | - | 3 | Gain | ND |
ALDH9A1 | - | - | - | - | 3 | Gain | ND |
ALG12 | - | - | - | - | 3 | Gain | ND |
ALG14 | p.R27C | Missense | SNP | 0.264 | 2 | - | ND |
ALKBH4 | - | - | - | - | 3 | Gain | ND |
ALMS1 | p.Y2095F | Missense | SNP | 0.253 | 2 | - | ND |
ALOX12 | p.W208* | Nonsense | SNP | 0.520 | 2 | - | ND |
ALOX5 | - | - | - | - | 1 | Loss | ND |
ALPK1 | - | - | - | - | 1 | Loss | ND |
ALPK3 | - | - | - | - | 3 | Gain | ND |
ALPL | - | - | - | - | 3 | Gain | ND |
ALS2CR11 | p.P814S | Missense | SNP | 0.445 | ND | ND | ND |
ALX3 | p.P42S | Missense | SNP | 0.667 | 2 | - | ND |
AMFR | - | - | - | - | 1 | Loss | ND |
AMPH | - | - | - | - | 3 | Gain | ND |
AMZ1 | - | - | - | - | 3 | Gain | ND |
ANAPC10 | - | - | - | - | 3 | Gain | ND |
ANAPC2 | p.D360N | Missense | SNP | 0.195 | 2 | - | ND |
ANGEL2 | - | - | - | - | 3 | Gain | ND |
ANGPTL1 | - | - | - | - | 3 | Gain | ND |
ANGPTL7 | - | - | - | - | 3 | Gain | ND |
ANHX | p.W98* | Nonsense | SNP | 0.500 | 2 | - | ND |
ANK2 | - | - | - | - | 1 | Loss | ND |
ANK3 | - | - | - | - | 1 | Loss | ND |
ANKDD1A | p.L95F | Missense | SNP | 0.567 | 3 | Gain | ND |
ANKH | p.R384K | Missense | SNP | 0.237 | 2 | - | ND |
ANKIB1 | - | - | - | - | 4 | Gain | ND |
ANKMY2 | - | - | - | - | 3 | Gain | ND |
ANKRD11 | - | - | - | - | 1 | Loss | ND |
ANKRD16 | - | - | - | - | 1 | Loss | ND |
ANKRD18A | - | - | - | - | 1 | Loss | ND |
ANKRD18B | p.G294R | Missense | SNP | 0.312 | 0 | Del | ND |
ANKRD20A2 | - | - | - | - | 1 | Loss | ND |
ANKRD26 | - | - | - | - | 1 | Loss | ND |
ANKRD30A | - | - | - | - | 1 | Loss | ND |
ANKRD34C | - | - | - | - | 3 | Gain | ND |
ANKRD37 | - | - | - | - | 3 | Gain | ND |
ANKRD45 | - | - | - | - | 3 | Gain | ND |
ANKRD50 | - | - | - | - | 3 | Gain | ND |
ANKRD54 | - | - | - | - | 3 | Gain | ND |
ANKRD55 | - | - | - | - | 3 | Gain | ND |
ANKRD61 | - | - | - | - | 3 | Gain | ND |
ANKRD65 | - | - | - | - | 3 | Gain | ND |
ANKRD7 | - | - | - | - | 3 | Gain | ND |
ANLN | - | - | - | - | 3 | Gain | ND |
ANO10 | p.P452S | Missense | SNP | 0.479 | 2 | - | ND |
ANO6 | p.S42F | Missense | SNP | 0.372 | 2 | - | ND |
ANP32A | - | - | - | - | 3 | Gain | ND |
ANPEP | - | - | - | - | 3 | Gain | ND |
ANTXR2 | - | - | - | - | 1 | Loss | ND |
ANTXRL | - | - | - | - | 1 | Loss | ND |
ANXA10 | - | - | - | - | 3 | Gain | ND |
ANXA2 | - | - | - | - | 3 | Gain | ND |
ANXA2R | - | - | - | - | 3 | Gain | ND |
ANXA3 | - | - | - | - | 1 | Loss | ND |
ANXA5 | - | - | - | - | 1 | Loss | ND |
ANXA8 | - | - | - | - | 1 | Loss | ND |
ANXA8L1 | - | - | - | - | 1 | Loss | ND |
AOAH | - | - | - | - | 3 | Gain | ND |
AOC1 | - | - | - | - | 3 | Gain | ND |
AOX1 | p.E451K | Missense | SNP | 0.299 | 2 | - | ND |
AP000350.4 | - | - | - | - | 3 | Gain | ND |
AP1AR | - | - | - | - | 1 | Loss | ND |
AP1B1 | - | - | - | - | 3 | Gain | ND |
AP1G1 | - | - | - | - | 1 | Loss | ND |
AP1G2 | - | - | - | - | 1 | Loss | ND |
AP1S1 | - | - | - | - | 3 | Gain | ND |
AP3B2 | p.D784N p.X258_splice | Missense Splice_Site | SNP SNP | 0.137 0.233 | 3 | Gain | ND |
AP3S2 | - | - | - | - | 3 | Gain | ND |
AP4M1 | - | - | - | - | 3 | Gain | ND |
AP5Z1 | p.S318F | Missense | SNP | 0.177 | 3 | Gain | ND |
APBA2 | - | - | - | - | 3 | Gain | ND |
APBB1IP | - | - | - | - | 1 | Loss | ND |
APC2 | p.E1014K | Missense | SNP | 0.240 | 2 | - | ND |
APCS | - | - | - | - | 3 | Gain | ND |
APH1B | - | - | - | - | 3 | Gain | ND |
APOA2 | - | - | - | - | 3 | Gain | ND |
APOA5 | p.R143H | Missense | SNP | 0.641 | 2 | - | ND |
APOB | p.S3592P p.K2930N p.D2730N | Missense Missense Missense | SNP SNP SNP | 0.215 0.241 0.262 | 2 | - | ND |
APOBEC3A | - | - | - | - | 3 | Gain | ND |
APOBEC3B | - | - | - | - | 3 | Gain | ND |
APOBEC3C | - | - | - | - | 3 | Gain | ND |
APOBEC3D | - | - | - | - | 3 | Gain | ND |
APOBEC3F | - | - | - | - | 3 | Gain | ND |
APOBEC3G | - | - | - | - | 3 | Gain | ND |
APOBEC3H | - | - | - | - | 3 | Gain | ND |
APOBEC4 | - | - | - | - | 3 | Gain | ND |
APOBR | p.G635E | Missense | SNP | 0.419 | 2 | - | ND |
APOL1 | - | - | - | - | 3 | Gain | ND |
APOL2 | - | - | - | - | 3 | Gain | ND |
APOL3 | - | - | - | - | 3 | Gain | ND |
APOL4 | - | - | - | - | 3 | Gain | ND |
APOL5 | - | - | - | - | 3 | Gain | ND |
APOL6 | - | - | - | - | 3 | Gain | ND |
APP | p.R747C | Missense | SNP | 0.299 | 2 | - | ND |
APRT | - | - | - | - | 1 | Loss | ND |
APTX | - | - | - | - | 0 | Del | ND |
AQP1 | - | - | - | - | 3 | Gain | ND |
AQP10 | - | - | - | - | 3 | Gain | ND |
AQP3 | - | - | - | - | 0 | Del | ND |
AQP7 | - | - | - | - | 0 | Del | ND |
AQP9 | - | - | - | - | 3 | Gain | ND |
ARF1 | - | - | - | - | 3 | Gain | ND |
ARF5 | - | - | - | - | 3 | Gain | ND |
ARFIP1 | - | - | - | - | 1 | Loss | ND |
ARHGAP10 | - | - | - | - | 3 | Gain | ND |
ARHGAP11B | - | - | - | - | 3 | Gain | ND |
ARHGAP12 | - | - | - | - | 1 | Loss | ND |
ARHGAP21 | - | - | - | - | 1 | Loss | ND |
ARHGAP22 | - | - | - | - | 1 | Loss | ND |
ARHGAP24 | - | - | - | - | 1 | Loss | ND |
ARHGAP26 | p.S353L | Missense | SNP | 0.274 | 2 | - | ND |
ARHGAP29 | p.N405Y | Missense | SNP | 0.634 | 2 | - | ND |
ARHGAP30 | - | - | - | - | 3 | Gain | ND |
ARHGAP31 | p.P608S | Missense | SNP | 0.342 | 2 | - | ND |
ARHGEF10L | - | - | - | - | 3 | Gain | ND |
ARHGEF11 | - | - | - | - | 3 | Gain | ND |
ARHGEF15 | p.P78L | Missense | SNP | 0.438 | 2 | - | ND |
ARHGEF16 | - | - | - | - | 3 | Gain | ND |
ARHGEF19 | - | - | - | - | 3 | Gain | ND |
ARHGEF2 | - | - | - | - | 3 | Gain | ND |
ARHGEF38 | - | - | - | - | 1 | Loss | ND |
ARHGEF39 | - | - | - | - | 1 | Loss | ND |
ARID1A | p.S1091C p.Q1200* | Missense Nonsense | SNP SNP | 0.352 0.635 | 3 | Gain | ND |
ARID3B | - | - | - | - | 3 | Gain | ND |
ARID3C | - | - | - | - | 0 | Del | ND |
ARID4B | - | - | - | - | 3 | Gain | ND |
ARIH1 | - | - | - | - | 3 | Gain | ND |
ARL15 | - | - | - | - | 3 | Gain | ND |
ARL2BP | - | - | - | - | 1 | Loss | ND |
ARL4A | - | - | - | - | 3 | Gain | ND |
ARL5B | - | - | - | - | 1 | Loss | ND |
ARL8A | - | - | - | - | 3 | Gain | ND |
ARMC10 | - | - | - | - | 3 | Gain | ND |
ARMC3 | - | - | - | - | 1 | Loss | ND |
ARMC4 | - | - | - | - | 1 | Loss | ND |
ARMCX4 | p.P1390L | Missense | SNP | 0.436 | ND | ND | ND |
ARNT2 | - | - | - | - | 3 | Gain | ND |
ARPC1A | - | - | - | - | 3 | Gain | ND |
ARPC1B | - | - | - | - | 3 | Gain | ND |
ARPC5 | - | - | - | - | 3 | Gain | ND |
ARPIN | - | - | - | - | 3 | Gain | ND |
ARPP19 | - | - | - | - | 3 | Gain | ND |
ARPP21 | p.S76F p.K127* | Missense Nonsense | SNP SNP | 0.276 0.483 | 2 | - | ND |
ARRDC4 | p.Q234L | Missense | SNP | 0.594 | 3 | Gain | ND |
ARSB | p.P523S | Missense | SNP | 0.746 | 2 | - | ND |
ARSF | p.A184V | Missense | SNP | 1.000 | ND | ND | ND |
ARSJ | - | - | - | - | 1 | Loss | ND |
ART1 | p.G237E | Missense | SNP | 0.671 | 2 | - | ND |
ART3 | - | - | - | - | 1 | Loss | ND |
ARV1 | - | - | - | - | 3 | Gain | ND |
ARVCF | - | - | - | - | 3 | Gain | ND |
ASAH2 | - | - | - | - | 1 | Loss | ND |
ASAH2B | - | - | - | - | 1 | Loss | ND |
ASAP3 | p.P811S p.P127L | Missense Missense | SNP SNP | 0.413 0.200 | 3 | Gain | ND |
ASB10 | - | - | - | - | 3 | Gain | ND |
ASB13 | - | - | - | - | 1 | Loss | ND |
ASB15 | - | - | - | - | 3 | Gain | ND |
ASB4 | - | - | - | - | 3 | Gain | ND |
ASB5 | - | - | - | - | 3 | Gain | ND |
ASB7 | - | - | - | - | 3 | Gain | ND |
ASCC2 | - | - | - | - | 3 | Gain | ND |
ASCC3 | p.H1336Y | Missense | SNP | 0.347 | 2 | - | ND |
ASH1L | - | - | - | - | 3 | Gain | ND |
ASIC3 | - | - | - | - | 3 | Gain | ND |
ASIC5 | - | - | - | - | 3 | Gain | ND |
ASL | - | - | - | - | 3 | Gain | ND |
ASNA1 | p.S231T | Missense | SNP | 0.470 | 2 | - | ND |
ASNS | - | - | - | - | 3 | Gain | ND |
ASPDH | p.G279E | Missense | SNP | 0.258 | 2 | - | ND |
ASPHD2 | - | - | - | - | 3 | Gain | ND |
ASPM | - | - | - | - | 3 | Gain | ND |
ASTN1 | p.E502K | Missense | SNP | 0.429 | 3 | Gain | ND |
ASXL2 | p.P963S | Missense | SNP | 0.518 | 2 | - | ND |
ASZ1 | - | - | - | - | 3 | Gain | ND |
ATAD3A | - | - | - | - | 3 | Gain | ND |
ATAD3B | - | - | - | - | 3 | Gain | ND |
ATAD3C | - | - | - | - | 3 | Gain | ND |
ATF3 | - | - | - | - | 3 | Gain | ND |
ATF4 | - | - | - | - | 3 | Gain | ND |
ATF6 | - | - | - | - | 3 | Gain | ND |
ATF6B | p.P263S | Missense | SNP | 0.275 | 2 | - | ND |
ATF7IP | p.S752T | Missense | SNP | 0.717 | 2 | - | ND |
ATG9B | - | - | - | - | 3 | Gain | ND |
ATMIN | - | - | - | - | 1 | Loss | ND |
ATOH1 | - | - | - | - | 1 | Loss | ND |
ATP10A | - | - | - | - | 3 | Gain | ND |
ATP13A2 | - | - | - | - | 3 | Gain | ND |
ATP13A5 | p.D397N | Missense | SNP | 0.568 | 2 | - | ND |
ATP1A2 | - | - | - | - | 3 | Gain | ND |
ATP1A4 | - | - | - | - | 3 | Gain | ND |
ATP1B1 | - | - | - | - | 3 | Gain | ND |
ATP2B2 | p.R777Q | Missense | SNP | 0.515 | 2 | - | ND |
ATP2B4 | p.P113S | Missense | SNP | 0.283 | 3 | Gain | ND |
ATP2C2 | - | - | - | - | 1 | Loss | ND |
ATP4A | p.E902K | Missense | SNP | 0.239 | 2 | - | ND |
ATP5F1C | - | - | - | - | 1 | Loss | ND |
ATP5IF1 | - | - | - | - | 3 | Gain | ND |
ATP5MF | - | - | - | - | 3 | Gain | ND |
ATP5MF-PTCD1 | - | - | - | - | 3 | Gain | ND |
ATP6V0D1 | - | - | - | - | 1 | Loss | ND |
ATP6V0E2 | - | - | - | - | 3 | Gain | ND |
ATP6V1E1 | - | - | - | - | 3 | Gain | ND |
ATP6V1E2 | p.E61K | Missense | SNP | 0.545 | 2 | - | ND |
ATP6V1F | - | - | - | - | 3 | Gain | ND |
ATP6V1FNB | - | - | - | - | 3 | Gain | ND |
ATP6V1G3 | - | - | - | - | 3 | Gain | ND |
ATP8B2 | - | - | - | - | 3 | Gain | ND |
ATP8B4 | p.E587K | Missense | SNP | 1.000 | 2 | - | ND |
ATRN | p.Q1218* | Nonsense | DNP | 0.408 | 2 | - | ND |
ATXN10 | - | - | - | - | 3 | Gain | ND |
ATXN1L | - | - | - | - | 1 | Loss | ND |
ATXN3L | p.L325H | Missense | SNP | 1.000 | ND | ND | ND |
ATXN7 | p.P656L | Missense | DNP | 0.527 | 2 | - | ND |
ATXN7L1 | - | - | - | - | 3 | Gain | ND |
AUNIP | - | - | - | - | 3 | Gain | ND |
AURKAIP1 | - | - | - | - | 3 | Gain | ND |
AUTS2 | - | - | - | - | 3 | Gain | ND |
AVL9 | - | - | - | - | 3 | Gain | ND |
AVPR1B | - | - | - | - | 3 | Gain | ND |
AXDND1 | - | - | - | - | 3 | Gain | ND |
AXIN2 | p.P710S | Missense | SNP | 0.415 | 2 | - | ND |
AZGP1 | - | - | - | - | 3 | Gain | ND |
AZIN2 | - | - | - | - | 3 | Gain | ND |
B3GALNT2 | - | - | - | - | 3 | Gain | ND |
B3GALT1 | p.R199Q | Missense | SNP | 0.288 | 2 | - | ND |
B3GALT2 | - | - | - | - | 3 | Gain | ND |
B3GALT6 | - | - | - | - | 3 | Gain | ND |
B3GNT2 | p.E64K | Missense | SNP | 0.417 | 2 | - | ND |
B3GNT9 | - | - | - | - | 1 | Loss | ND |
B4GALT1 | - | - | - | - | 0 | Del | ND |
B4GALT3 | - | - | - | - | 3 | Gain | ND |
B4GALT6 | p.P104S | Missense | SNP | 0.272 | 2 | - | ND |
BAG1 | - | - | - | - | 0 | Del | ND |
BAIAP2L1 | - | - | - | - | 3 | Gain | ND |
BAIAP2L2 | - | - | - | - | 3 | Gain | ND |
BAMBI | - | - | - | - | 1 | Loss | ND |
BANK1 | - | - | - | - | 1 | Loss | ND |
BANP | - | - | - | - | 1 | Loss | ND |
BAP1 | p.Q253* | Nonsense | SNP | 0.253 | 2 | - | ND |
BASP1 | - | - | - | - | 3 | Gain | ND |
BATF3 | - | - | - | - | 3 | Gain | ND |
BAZ1B | - | - | - | - | 3 | Gain | ND |
BBS12 | - | - | - | - | 1 | Loss | ND |
BBS2 | - | - | - | - | 1 | Loss | ND |
BBS4 | - | - | - | - | 3 | Gain | ND |
BBS7 | - | - | - | - | 1 | Loss | ND |
BBS9 | - | - | - | - | 3 | Gain | ND |
BCAN | - | - | - | - | 3 | Gain | ND |
BCAP29 | - | - | - | - | 3 | Gain | ND |
BCAR1 | - | - | - | - | 1 | Loss | ND |
BCL2A1 | - | - | - | - | 3 | Gain | ND |
BCL2L13 | - | - | - | - | 3 | Gain | ND |
BCL2L2 | - | - | - | - | 1 | Loss | ND |
BCL2L2-PABPN1 | - | - | - | - | 1 | Loss | ND |
BCL7B | - | - | - | - | 3 | Gain | ND |
BCO1 | - | - | - | - | 1 | Loss | ND |
BCR | - | - | - | - | 3 | Gain | ND |
BDH2 | - | - | - | - | 1 | Loss | ND |
BEAN1 | - | - | - | - | 1 | Loss | ND |
BEND7 | - | - | - | - | 1 | Loss | ND |
BET1 | - | - | - | - | 4 | Gain | ND |
BFAR | p.T316I | Missense | SNP | 0.649 | 2 | - | ND |
BGLAP | - | - | - | - | 3 | Gain | ND |
BHLHA15 | - | - | - | - | 3 | Gain | ND |
BHMG1 | p.G215E | Missense | SNP | 0.221 | 2 | - | ND |
BICC1 | - | - | - | - | 1 | Loss | ND |
BID | - | - | - | - | 3 | Gain | ND |
BLM | - | - | - | - | 3 | Gain | ND |
BLVRA | - | - | - | - | 3 | Gain | ND |
BLZF1 | - | - | - | - | 3 | Gain | ND |
BMI1 | - | - | - | - | 1 | Loss | ND |
BMP2K | - | - | - | - | 1 | Loss | ND |
BMP3 | p.S83L | Missense | SNP | 1.000 | 1 | Loss | ND |
BMPER | p.W417* | Nonsense | SNP | 0.511 | 3 | Gain | ND |
BMPR1B | - | - | - | - | 1 | Loss | ND |
BMS1 | - | - | - | - | 1 | Loss | ND |
BMT2 | - | - | - | - | 3 | Gain | ND |
BNC1 | p.P603L p.D462N | Missense Missense | SNP SNP | 0.552 0.214 | 3 | Gain | ND |
BNC2 | - | - | - | - | 0 | Del | ND |
BNIP2 | - | - | - | - | 3 | Gain | ND |
BNIP3 | - | - | - | - | 1 | Loss | ND |
BOP1 | p.G712R | Missense | SNP | 0.216 | 1 | Loss | ND |
BORCS8-MEF2B | p.S355F | Missense | SNP | 0.432 | 2 | - | ND |
BPIFC | p.T377I | Missense | SNP | 0.626 | 3 | Gain | ND |
BPNT1 | - | - | - | - | 3 | Gain | ND |
BRAT1 | - | - | - | - | 3 | Gain | ND |
BRD1 | - | - | - | - | 3 | Gain | ND |
BRD7 | - | - | - | - | 1 | Loss | ND |
BRI3 | - | - | - | - | 3 | Gain | ND |
BRICD5 | p.R135Q | Missense | DNP | 0.613 | 2 | - | ND |
BRINP2 | p.P611S | Missense | SNP | 0.811 | 3 | Gain | ND |
BRINP3 | - | - | - | - | 3 | Gain | ND |
BROX | - | - | - | - | 3 | Gain | ND |
BRWD3 | p.S1284L | Missense | SNP | 0.467 | ND | ND | ND |
BSDC1 | - | - | - | - | 3 | Gain | ND |
BTBD1 | p.H174Y | Missense | SNP | 0.255 | 3 | Gain | ND |
BTG2 | - | - | - | - | 3 | Gain | ND |
BTNL3 | p.G245S | Missense | SNP | 1.000 | 0 | Del | ND |
BTNL9 | - | - | - | - | 1 | Loss | ND |
BUB1B | p.P301S | Missense | SNP | 1.000 | 2 | - | ND |
BUD23 | - | - | - | - | 3 | Gain | ND |
BUD31 | - | - | - | - | 3 | Gain | ND |
BZW2 | p.R62C | Missense | SNP | 0.609 | 3 | Gain | ND |
C10orf113 | - | - | - | - | 1 | Loss | ND |
C10orf53 | - | - | - | - | 1 | Loss | ND |
C10orf67 | - | - | - | - | 1 | Loss | ND |
C10orf71 | - | - | - | - | 1 | Loss | ND |
C11orf63 | p.P395S | Missense | SNP | 0.662 | ND | ND | ND |
C11orf91 | p.P105L | Missense | SNP | 0.302 | 2 | - | ND |
C12orf40 | p.E606K | Missense | SNP | 0.335 | 2 | - | ND |
C14orf119 | - | - | - | - | 1 | Loss | ND |
C14orf159 | p.P601S | Missense | SNP | 0.372 | ND | ND | ND |
C15orf38-AP3S2 | - | - | - | - | 3 | Gain | ND |
C15orf39 | - | - | - | - | 3 | Gain | ND |
C15orf40 | - | - | - | - | 3 | Gain | ND |
C15orf59 | p.P256L | Missense | SNP | 0.230 | ND | ND | ND |
C15orf61 | - | - | - | - | 3 | Gain | ND |
C15orf65 | - | - | - | - | 3 | Gain | ND |
C16orf46 | - | - | - | - | 1 | Loss | ND |
C16orf70 | - | - | - | - | 1 | Loss | ND |
C16orf71 | p.P287L | Missense | SNP | 0.518 | 2 | - | ND |
C16orf74 | - | - | - | - | 1 | Loss | ND |
C16orf78 | - | - | - | - | 1 | Loss | ND |
C16orf86 | - | - | - | - | 1 | Loss | ND |
C16orf87 | - | - | - | - | 1 | Loss | ND |
C16orf95 | - | - | - | - | 1 | Loss | ND |
C19orf25 | p.P52L | Missense | SNP | 0.644 | 2 | - | ND |
C1GALT1 | - | - | - | - | 3 | Gain | ND |
C1orf100 | - | - | - | - | 3 | Gain | ND |
C1orf105 | - | - | - | - | 3 | Gain | ND |
C1orf112 | - | - | - | - | 3 | Gain | ND |
C1orf115 | - | - | - | - | 3 | Gain | ND |
C1orf116 | - | - | - | - | 3 | Gain | ND |
C1orf127 | - | - | - | - | 3 | Gain | ND |
C1orf131 | - | - | - | - | 3 | Gain | ND |
C1orf158 | p.E178K | Missense | SNP | 0.619 | 3 | Gain | ND |
C1orf159 | - | - | - | - | 3 | Gain | ND |
C1orf167 | - | - | - | - | 3 | Gain | ND |
C1orf174 | p.R4W | Missense | DNP | 0.245 | 3 | Gain | ND |
C1orf189 | - | - | - | - | 3 | Gain | ND |
C1orf198 | - | - | - | - | 3 | Gain | ND |
C1orf21 | - | - | - | - | 3 | Gain | ND |
C1orf216 | - | - | - | - | 3 | Gain | ND |
C1orf226 | - | - | - | - | 3 | Gain | ND |
C1orf35 | - | - | - | - | 3 | Gain | ND |
C1orf43 | - | - | - | - | 3 | Gain | ND |
C1orf53 | - | - | - | - | 3 | Gain | ND |
C1orf61 | - | - | - | - | 3 | Gain | ND |
C1orf74 | - | - | - | - | 3 | Gain | ND |
C1orf94 | - | - | - | - | 3 | Gain | ND |
C1QA | - | - | - | - | 3 | Gain | ND |
C1QB | - | - | - | - | 3 | Gain | ND |
C1QC | - | - | - | - | 3 | Gain | ND |
C1QL3 | - | - | - | - | 1 | Loss | ND |
C1QTNF12 | - | - | - | - | 3 | Gain | ND |
C1QTNF6 | - | - | - | - | 3 | Gain | ND |
C22orf15 | - | - | - | - | 3 | Gain | ND |
C22orf23 | - | - | - | - | 3 | Gain | ND |
C22orf31 | - | - | - | - | 3 | Gain | ND |
C22orf39 | - | - | - | - | 3 | Gain | ND |
C22orf42 | - | - | - | - | 3 | Gain | ND |
C2CD4A | - | - | - | - | 3 | Gain | ND |
C2CD4B | - | - | - | - | 3 | Gain | ND |
C2orf71 | p.P1087S p.A814V | Missense Missense | SNP SNP | 0.264 0.514 | ND | ND | ND |
C3 | p.M83I | Missense | SNP | 0.211 | 2 | - | ND |
C4B | - | - | - | - | 1 | Loss | ND |
C4BPA | - | - | - | - | 3 | Gain | ND |
C4BPB | - | - | - | - | 3 | Gain | ND |
C4orf17 | - | - | - | - | 1 | Loss | ND |
C4orf22 | p.G87D | Missense | SNP | 1.000 | ND | ND | ND |
C4orf3 | - | - | - | - | 1 | Loss | ND |
C4orf33 | - | - | - | - | 3 | Gain | ND |
C4orf36 | - | - | - | - | 1 | Loss | ND |
C4orf45 | - | - | - | - | 3 | Gain | ND |
C4orf46 | - | - | - | - | 3 | Gain | ND |
C4orf47 | - | - | - | - | 3 | Gain | ND |
C4orf51 | - | - | - | - | 3 | Gain | ND |
C4orf54 | - | - | - | - | 1 | Loss | ND |
C5orf22 | - | - | - | - | 3 | Gain | ND |
C5orf34 | - | - | - | - | 3 | Gain | ND |
C5orf51 | - | - | - | - | 3 | Gain | ND |
C5orf67 | - | - | - | - | 3 | Gain | ND |
C6 | p.G915E | Missense | SNP | 0.155 | 3 | Gain | ND |
C6orf136 | p.Y445C | Missense | SNP | 0.379 | 2 | - | ND |
C6orf15 | p.L199F | Missense | SNP | 0.631 | 2 | - | ND |
C6orf203 | p.P73S | Missense | SNP | 0.636 | 2 | - | ND |
C7 | - | - | - | - | 3 | Gain | ND |
C7orf25 | - | - | - | - | 3 | Gain | ND |
C7orf26 | p.Q138* | Nonsense | SNP | 0.724 | 3 | Gain | ND |
C7orf31 | - | - | - | - | 3 | Gain | ND |
C7orf33 | - | - | - | - | 3 | Gain | ND |
C7orf43 | p.P143L | Missense | SNP | 0.458 | 3 | Gain | ND |
C7orf50 | - | - | - | - | 3 | Gain | ND |
C7orf57 | - | - | - | - | 3 | Gain | ND |
C7orf61 | p.P79L | Missense | SNP | 0.495 | 3 | Gain | ND |
C7orf77 | - | - | - | - | 3 | Gain | ND |
C8orf74 | p.E165K | Missense | SNP | 0.273 | 2 | - | ND |
C9 | p.S263F | Missense | SNP | 0.250 | 3 | Gain | ND |
C9orf131 | - | - | - | - | 1 | Loss | ND |
C9orf24 | - | - | - | - | 0 | Del | ND |
C9orf66 | - | - | - | - | 0 | Del | ND |
C9orf72 | - | - | - | - | 0 | Del | ND |
C9orf92 | - | - | - | - | 0 | Del | ND |
CA12 | - | - | - | - | 3 | Gain | ND |
CA5A | - | - | - | - | 1 | Loss | ND |
CA6 | - | - | - | - | 3 | Gain | ND |
CA7 | - | - | - | - | 1 | Loss | ND |
CA9 | - | - | - | - | 1 | Loss | ND |
CAAP1 | - | - | - | - | 0 | Del | ND |
CABIN1 | - | - | - | - | 3 | Gain | ND |
CABLES2 | p.G447R | Missense | SNP | 0.475 | 2 | - | ND |
CABP7 | - | - | - | - | 3 | Gain | ND |
CACNA1E | p.P1940L | Missense | SNP | 0.805 | 3 | Gain | ND |
CACNA1I | - | - | - | - | 3 | Gain | ND |
CACNA1S | - | - | - | - | 3 | Gain | ND |
CACNA2D1 | - | - | - | - | 4 | Gain | ND |
CACNA2D4 | p.R781K p.P22S | Missense Missense | SNP SNP | 0.320 0.292 | 2 | - | ND |
CACNB2 | - | - | - | - | 1 | Loss | ND |
CACNG2 | - | - | - | - | 3 | Gain | ND |
CACYBP | - | - | - | - | 3 | Gain | ND |
CAD | p.T508I | Missense | SNP | 0.185 | 2 | - | ND |
CADM3 | - | - | - | - | 3 | Gain | ND |
CADPS | p.E1168K | Missense | SNP | 0.264 | 2 | - | ND |
CADPS2 | - | - | - | - | 3 | Gain | ND |
CAGE1 | p.G715R | Missense | SNP | 0.682 | 2 | - | ND |
CALB1 | p.G245E | Missense | SNP | 0.193 | 2 | - | ND |
CALB2 | - | - | - | - | 1 | Loss | ND |
CALCR | - | - | - | - | 4 | Gain | ND |
CALML3 | - | - | - | - | 1 | Loss | ND |
CALML4 | - | - | - | - | 3 | Gain | ND |
CALML5 | - | - | - | - | 1 | Loss | ND |
CALML6 | - | - | - | - | 3 | Gain | ND |
CALN1 | - | - | - | - | 3 | Gain | ND |
CALU | - | - | - | - | 3 | Gain | ND |
CALY | - | - | - | - | 1 | Loss | ND |
CAMK1 | p.D170N | Missense | SNP | 0.517 | 2 | - | ND |
CAMK1D | - | - | - | - | 1 | Loss | ND |
CAMK1G | - | - | - | - | 3 | Gain | ND |
CAMK2B | - | - | - | - | 3 | Gain | ND |
CAMK2D | - | - | - | - | 1 | Loss | ND |
CAMK2N1 | - | - | - | - | 3 | Gain | ND |
CAMKMT | p.P314S | Missense | SNP | 0.482 | 2 | - | ND |
CAMSAP2 | - | - | - | - | 3 | Gain | ND |
CAMTA1 | - | - | - | - | 3 | Gain | ND |
CAMTA2 | p.P888S | Missense | SNP | 0.230 | 2 | - | ND |
CAND1 | p.A1176V | Missense | SNP | 0.650 | 2 | - | ND |
CAPN1 | p.S622F | Missense | SNP | 0.672 | 2 | - | ND |
CAPN2 | - | - | - | - | 3 | Gain | ND |
CAPN8 | - | - | - | - | 3 | Gain | ND |
CAPN9 | - | - | - | - | 3 | Gain | ND |
CAPNS2 | - | - | - | - | 1 | Loss | ND |
CAPZA2 | - | - | - | - | 3 | Gain | ND |
CAPZB | - | - | - | - | 3 | Gain | ND |
CARD10 | p.P816S | Missense | SNP | 0.592 | 3 | Gain | ND |
CARD11 | - | - | - | - | 3 | Gain | ND |
CARD6 | - | - | - | - | 3 | Gain | ND |
CARMIL2 | - | - | - | - | 1 | Loss | ND |
CARMIL3 | - | - | - | - | 1 | Loss | ND |
CASC10 | - | - | - | - | 1 | Loss | ND |
CASD1 | - | - | - | - | 4 | Gain | ND |
CASP3 | - | - | - | - | 3 | Gain | ND |
CASP6 | - | - | - | - | 1 | Loss | ND |
CASP7 | p.P141S | Missense | SNP | 1.000 | 2 | - | ND |
CASP9 | - | - | - | - | 3 | Gain | ND |
CASQ1 | p.G296S | Missense | SNP | 0.129 | 3 | Gain | ND |
CASTOR1 | - | - | - | - | 3 | Gain | ND |
CASTOR2 | - | - | - | - | 3 | Gain | ND |
CASTOR3 | - | - | - | - | 3 | Gain | ND |
CASZ1 | p.P982L | Missense | SNP | 0.432 | 3 | Gain | ND |
CATSPER2 | - | - | - | - | 0 | Del | ND |
CATSPER3 | p.N112S | Missense | SNP | 0.269 | 2 | - | ND |
CATSPER4 | - | - | - | - | 3 | Gain | ND |
CATSPERE | - | - | - | - | 3 | Gain | ND |
CAV1 | - | - | - | - | 3 | Gain | ND |
CAV2 | p.X113_splice | Splice_Site | SNP | 0.306 | 3 | Gain | ND |
CBFA2T2 | p.P410L | Missense | SNP | 0.333 | 2 | - | ND |
CBFA2T3 | - | - | - | - | 1 | Loss | ND |
CBFB | - | - | - | - | 1 | Loss | ND |
CBLL1 | - | - | - | - | 3 | Gain | ND |
CBLN1 | - | - | - | - | 1 | Loss | ND |
CBR4 | - | - | - | - | 3 | Gain | ND |
CBWD1 | - | - | - | - | 0 | Del | ND |
CBX3 | - | - | - | - | 3 | Gain | ND |
CBX6 | - | - | - | - | 3 | Gain | ND |
CBX7 | - | - | - | - | 3 | Gain | ND |
CBY1 | - | - | - | - | 3 | Gain | ND |
CCDC102A | - | - | - | - | 1 | Loss | ND |
CCDC107 | - | - | - | - | 1 | Loss | ND |
CCDC110 | - | - | - | - | 3 | Gain | ND |
CCDC113 | - | - | - | - | 1 | Loss | ND |
CCDC116 | - | - | - | - | 3 | Gain | ND |
CCDC117 | - | - | - | - | 3 | Gain | ND |
CCDC126 | - | - | - | - | 3 | Gain | ND |
CCDC13 | p.E103K | Missense | SNP | 0.240 | 2 | - | ND |
CCDC136 | - | - | - | - | 3 | Gain | ND |
CCDC146 | - | - | - | - | 4 | Gain | ND |
CCDC152 | - | - | - | - | 3 | Gain | ND |
CCDC157 | - | - | - | - | 3 | Gain | ND |
CCDC158 | - | - | - | - | 1 | Loss | ND |
CCDC168 | p.L5698F | Missense | SNP | 0.293 | 2 | - | ND |
CCDC171 | - | - | - | - | 0 | Del | ND |
CCDC181 | - | - | - | - | 3 | Gain | ND |
CCDC185 | - | - | - | - | 3 | Gain | ND |
CCDC188 | - | - | - | - | 3 | Gain | ND |
CCDC190 | - | - | - | - | 3 | Gain | ND |
CCDC27 | - | - | - | - | 3 | Gain | ND |
CCDC28B | - | - | - | - | 3 | Gain | ND |
CCDC3 | - | - | - | - | 1 | Loss | ND |
CCDC33 | - | - | - | - | 3 | Gain | ND |
CCDC39 | p.N53I | Missense | SNP | 0.179 | 2 | - | ND |
CCDC6 | - | - | - | - | 1 | Loss | ND |
CCDC62 | - | - | - | - | 5 | Amp | ND |
CCDC7 | - | - | - | - | 1 | Loss | ND |
CCDC71L | - | - | - | - | 3 | Gain | ND |
CCDC73 | p.E410K | Missense | SNP | 0.262 | 2 | - | ND |
CCDC77 | p.A151V | Missense | SNP | 0.315 | 2 | - | ND |
CCDC80 | p.R87C | Missense | SNP | 0.521 | 2 | - | ND |
CCDC85A | p.P538L | Missense | SNP | 0.238 | 2 | - | ND |
CCIN | - | - | - | - | 1 | Loss | ND |
CCL17 | - | - | - | - | 1 | Loss | ND |
CCL19 | - | - | - | - | 0 | Del | ND |
CCL21 | - | - | - | - | 0 | Del | ND |
CCL22 | - | - | - | - | 1 | Loss | ND |
CCL24 | - | - | - | - | 3 | Gain | ND |
CCL26 | - | - | - | - | 3 | Gain | ND |
CCL27 | - | - | - | - | 0 | Del | ND |
CCL28 | - | - | - | - | 3 | Gain | ND |
CCM2 | - | - | - | - | 3 | Gain | ND |
CCNA1 | p.G62D | Missense | SNP | 0.515 | 2 | - | ND |
CCNA2 | - | - | - | - | 1 | Loss | ND |
CCNB2 | - | - | - | - | 3 | Gain | ND |
CCNG2 | - | - | - | - | 1 | Loss | ND |
CCNI | - | - | - | - | 1 | Loss | ND |
CCNL2 | - | - | - | - | 3 | Gain | ND |
CCNO | - | - | - | - | 3 | Gain | ND |
CCNY | - | - | - | - | 1 | Loss | ND |
CCPG1 | - | - | - | - | 3 | Gain | ND |
CCR2 | p.L92F | Missense | SNP | 0.204 | 2 | - | ND |
CCSAP | - | - | - | - | 3 | Gain | ND |
CCSER1 | - | - | - | - | 1 | Loss | ND |
CCT2 | p.P300S | Missense | SNP | 0.319 | 2 | - | ND |
CCT3 | - | - | - | - | 3 | Gain | ND |
CCT6A | - | - | - | - | 3 | Gain | ND |
CCT7 | p.H73Y | Missense | SNP | 0.426 | 2 | - | ND |
CCT8L2 | - | - | - | - | 3 | Gain | ND |
CCZ1 | - | - | - | - | 3 | Gain | ND |
CCZ1B | - | - | - | - | 3 | Gain | ND |
CD163 | p.V1059A p.S696L | Missense Missense | SNP SNP | 0.243 0.306 | 2 | - | ND |
CD163L1 | p.G711E p.A222V | Missense Missense | SNP SNP | 0.648 0.655 | 2 | - | ND |
CD164L2 | - | - | - | - | 3 | Gain | ND |
CD1A | - | - | - | - | 3 | Gain | ND |
CD1B | - | - | - | - | 3 | Gain | ND |
CD1C | - | - | - | - | 3 | Gain | ND |
CD1D | - | - | - | - | 3 | Gain | ND |
CD1E | - | - | - | - | 3 | Gain | ND |
CD200R1 | p.E98K | Missense | SNP | 0.287 | 2 | - | ND |
CD244 | - | - | - | - | 3 | Gain | ND |
CD247 | - | - | - | - | 3 | Gain | ND |
CD248 | p.G219R | Missense | SNP | 0.644 | 2 | - | ND |
CD274 | - | - | - | - | 0 | Del | ND |
CD276 | - | - | - | - | 3 | Gain | ND |
CD300LG | p.E277K | Missense | SNP | 0.323 | 2 | - | ND |
CD34 | - | - | - | - | 3 | Gain | ND |
CD36 | - | - | - | - | 4 | Gain | ND |
CD38 | p.S274F | Missense | SNP | 0.488 | 2 | - | ND |
CD46 | - | - | - | - | 3 | Gain | ND |
CD48 | - | - | - | - | 3 | Gain | ND |
CD52 | - | - | - | - | 3 | Gain | ND |
CD55 | - | - | - | - | 3 | Gain | ND |
CD5L | - | - | - | - | 3 | Gain | ND |
CD69 | p.R134Q | Missense | SNP | 0.300 | 2 | - | ND |
CD72 | - | - | - | - | 1 | Loss | ND |
CD84 | p.D297N | Missense | SNP | 0.799 | 3 | Gain | ND |
CDA | - | - | - | - | 3 | Gain | ND |
CDC123 | - | - | - | - | 1 | Loss | ND |
CDC14A | p.R345* | Nonsense | SNP | 0.260 | 2 | - | ND |
CDC14C | - | - | - | - | 3 | Gain | ND |
CDC20B | - | - | - | - | 3 | Gain | ND |
CDC37L1 | - | - | - | - | 0 | Del | ND |
CDC42 | - | - | - | - | 3 | Gain | ND |
CDC42BPA | - | - | - | - | 3 | Gain | ND |
CDC42EP1 | - | - | - | - | 3 | Gain | ND |
CDC45 | - | - | - | - | 3 | Gain | ND |
CDC73 | - | - | - | - | 3 | Gain | ND |
CDCA7L | - | - | - | - | 3 | Gain | ND |
CDH1 | - | - | - | - | 1 | Loss | ND |
CDH10 | p.N133T | Missense | SNP | 0.241 | 3 | Gain | ND |
CDH11 | - | - | - | - | 1 | Loss | ND |
CDH12 | - | - | - | - | 3 | Gain | ND |
CDH13 | - | - | - | - | 1 | Loss | ND |
CDH15 | - | - | - | - | 1 | Loss | ND |
CDH16 | p.L459F | Missense | DNP | 1.000 | 1 | Loss | ND |
CDH17 | p.G770E | Missense | SNP | 0.202 | 2 | - | ND |
CDH18 | - | - | - | - | 3 | Gain | ND |
CDH22 | p.S605F | Missense | SNP | 0.477 | 2 | - | ND |
CDH3 | - | - | - | - | 1 | Loss | ND |
CDH5 | - | - | - | - | 1 | Loss | ND |
CDH6 | p.D294N p.R429K | Missense Missense | SNP SNP | 0.504 0.198 | 3 | Gain | ND |
CDH8 | - | - | - | - | 1 | Loss | ND |
CDH9 | - | - | - | - | 3 | Gain | ND |
CDHR2 | p.X256_splice | Splice_Site | SNP | 0.595 | 2 | - | ND |
CDHR3 | - | - | - | - | 3 | Gain | ND |
CDK1 | - | - | - | - | 1 | Loss | ND |
CDK10 | - | - | - | - | 1 | Loss | ND |
CDK11A | - | - | - | - | 3 | Gain | ND |
CDK11B | - | - | - | - | 3 | Gain | ND |
CDK13 | - | - | - | - | 3 | Gain | ND |
CDK14 | p.H361Y | Missense | SNP | 0.171 | 3 | Gain | ND |
CDK18 | - | - | - | - | 3 | Gain | ND |
CDK5 | - | - | - | - | 3 | Gain | ND |
CDK5RAP2 | p.S245F | Missense | SNP | 0.995 | 2 | - | ND |
CDK6 | - | - | - | - | 4 | Gain | ND |
CDKL2 | - | - | - | - | 1 | Loss | ND |
CDKN2A | - | - | - | - | 0 | Del | ND |
CDKN2AIP | - | - | - | - | 3 | Gain | ND |
CDKN2B | - | - | - | - | 0 | Del | ND |
CDNF | - | - | - | - | 1 | Loss | ND |
CDON | p.R1115* | Nonsense | SNP | 0.261 | 2 | - | ND |
CDPF1 | - | - | - | - | 3 | Gain | ND |
CDR1 | p.ED131DN p.D122N | Missense Missense | DNP SNP | 0.440 0.997 | ND | ND | ND |
CDS1 | - | - | - | - | 1 | Loss | ND |
CDT1 | - | - | - | - | 1 | Loss | ND |
CDYL2 | - | - | - | - | 1 | Loss | ND |
CEACAM16 | p.G340D | Missense | SNP | 0.329 | 2 | - | ND |
CEBPE | - | - | - | - | 1 | Loss | ND |
CECR2 | p.E95K | Missense | SNP | 0.208 | 3 | Gain | ND |
CELA2A | - | - | - | - | 3 | Gain | ND |
CELA2B | - | - | - | - | 3 | Gain | ND |
CELA3A | - | - | - | - | 3 | Gain | ND |
CELA3B | - | - | - | - | 3 | Gain | ND |
CELF2 | - | - | - | - | 1 | Loss | ND |
CELF6 | p.Q155* | Nonsense | SNP | 0.310 | 3 | Gain | ND |
CELSR1 | - | - | - | - | 3 | Gain | ND |
CELSR2 | p.W112* | Nonsense | DNP | 0.705 | 2 | - | ND |
CEMIP | - | - | - | - | 3 | Gain | ND |
CENPBD1 | - | - | - | - | 1 | Loss | ND |
CENPE | - | - | - | - | 1 | Loss | ND |
CENPF | - | - | - | - | 3 | Gain | ND |
CENPL | - | - | - | - | 3 | Gain | ND |
CENPN | - | - | - | - | 1 | Loss | ND |
CENPS | - | - | - | - | 3 | Gain | ND |
CENPS-CORT | - | - | - | - | 3 | Gain | ND |
CENPT | - | - | - | - | 1 | Loss | ND |
CENPU | - | - | - | - | 3 | Gain | ND |
CEP104 | p.R55Q | Missense | SNP | 0.454 | 3 | Gain | ND |
CEP112 | p.P218S | Missense | SNP | 0.417 | 2 | - | ND |
CEP128 | p.R1005C | Missense | SNP | 0.630 | 2 | - | ND |
CEP162 | p.E623K | Missense | SNP | 0.274 | 2 | - | ND |
CEP170 | - | - | - | - | 3 | Gain | ND |
CEP170B | p.S291F | Missense | SNP | 0.254 | 2 | - | ND |
CEP295 | p.S1302L | Missense | SNP | 0.304 | 2 | - | ND |
CEP350 | p.S1256F | Missense | SNP | 0.844 | 3 | Gain | ND |
CEP41 | - | - | - | - | 3 | Gain | ND |
CEP44 | - | - | - | - | 3 | Gain | ND |
CEP85 | - | - | - | - | 3 | Gain | ND |
CER1 | p.K141T | Missense | SNP | 1.000 | 0 | Del | ND |
CERK | - | - | - | - | 3 | Gain | ND |
CERS3 | - | - | - | - | 3 | Gain | ND |
CES1 | - | - | - | - | 1 | Loss | ND |
CES2 | - | - | - | - | 1 | Loss | ND |
CES3 | - | - | - | - | 1 | Loss | ND |
CES4A | - | - | - | - | 1 | Loss | ND |
CES5A | - | - | - | - | 1 | Loss | ND |
CETN1 | p.D116N | Missense | SNP | 0.475 | 2 | - | ND |
CETP | - | - | - | - | 1 | Loss | ND |
CFAP126 | - | - | - | - | 3 | Gain | ND |
CFAP161 | - | - | - | - | 3 | Gain | ND |
CFAP20 | - | - | - | - | 1 | Loss | ND |
CFAP299 | - | - | - | - | 1 | Loss | ND |
CFAP45 | - | - | - | - | 3 | Gain | ND |
CFAP46 | - | - | - | - | 1 | Loss | ND |
CFAP54 | p.C1127G p.K2152E | Missense Missense | SNP SNP | 0.644 0.831 | 2 | - | ND |
CFAP57 | p.G639D | Missense | SNP | 0.245 | 2 | - | ND |
CFAP69 | p.I318V | Missense | SNP | 0.140 | 3 | Gain | ND |
CFAP74 | - | - | - | - | 3 | Gain | ND |
CFAP97 | - | - | - | - | 3 | Gain | ND |
CFAP99 | p.E189K p.E251K | Missense Missense | SNP SNP | 0.249 0.221 | 2 | - | ND |
CFDP1 | - | - | - | - | 1 | Loss | ND |
CFH | - | - | - | - | 3 | Gain | ND |
CFHR1 | - | - | - | - | 3 | Gain | ND |
CFHR2 | - | - | - | - | 3 | Gain | ND |
CFHR3 | - | - | - | - | 3 | Gain | ND |
CFHR4 | p.G531E | Missense | SNP | 0.803 | 3 | Gain | ND |
CFHR5 | - | - | - | - | 3 | Gain | ND |
CFI | p.R339Q | Missense | SNP | 1.000 | 1 | Loss | ND |
CFTR | p.P676S | Missense | SNP | 0.629 | 3 | Gain | ND |
CGNL1 | - | - | - | - | 3 | Gain | ND |
CHAT | - | - | - | - | 1 | Loss | ND |
CHCHD10 | - | - | - | - | 3 | Gain | ND |
CHCHD2 | - | - | - | - | 3 | Gain | ND |
CHD1 | p.H1557Y | Missense | SNP | 0.274 | ND | ND | ND |
CHD2 | - | - | - | - | 3 | Gain | ND |
CHD5 | - | - | - | - | 3 | Gain | ND |
CHD7 | p.S2865L | Missense | SNP | 0.245 | 2 | - | ND |
CHD9 | - | - | - | - | 1 | Loss | ND |
CHEK2 | - | - | - | - | 3 | Gain | ND |
CHI3L1 | - | - | - | - | 3 | Gain | ND |
CHIT1 | p.V197L | Missense | SNP | 0.170 | 3 | Gain | ND |
CHML | - | - | - | - | 3 | Gain | ND |
CHMP1A | - | - | - | - | 1 | Loss | ND |
CHMP5 | - | - | - | - | 0 | Del | ND |
CHN2 | - | - | - | - | 3 | Gain | ND |
CHPF2 | - | - | - | - | 3 | Gain | ND |
CHRD | p.P801L | Missense | SNP | 0.449 | 2 | - | ND |
CHRFAM7A | - | - | - | - | 3 | Gain | ND |
CHRM3 | - | - | - | - | 3 | Gain | ND |
CHRNA2 | p.E28K | Missense | SNP | 0.379 | 2 | - | ND |
CHRNA3 | - | - | - | - | 3 | Gain | ND |
CHRNA5 | - | - | - | - | 3 | Gain | ND |
CHRNB2 | - | - | - | - | 3 | Gain | ND |
CHRNB3 | p.M304I | Missense | SNP | 0.350 | 2 | - | ND |
CHRNB4 | - | - | - | - | 3 | Gain | ND |
CHRND | p.P152L | Missense | SNP | 0.288 | 2 | - | ND |
CHST12 | p.P365S | Missense | SNP | 0.336 | 3 | Gain | ND |
CHST4 | - | - | - | - | 1 | Loss | ND |
CHST5 | - | - | - | - | 1 | Loss | ND |
CHST6 | - | - | - | - | 1 | Loss | ND |
CHSY1 | - | - | - | - | 3 | Gain | ND |
CHSY3 | p.H837Y | Missense | SNP | 0.268 | 2 | - | ND |
CHTF8 | - | - | - | - | 1 | Loss | ND |
CHTOP | - | - | - | - | 3 | Gain | ND |
CIAO2A | - | - | - | - | 3 | Gain | ND |
CIAO2B | - | - | - | - | 1 | Loss | ND |
CIAPIN1 | - | - | - | - | 1 | Loss | ND |
CIB1 | - | - | - | - | 3 | Gain | ND |
CIB2 | - | - | - | - | 3 | Gain | ND |
CILP | - | - | - | - | 3 | Gain | ND |
CISD1 | - | - | - | - | 1 | Loss | ND |
CISD2 | - | - | - | - | 1 | Loss | ND |
CIZ1 | p.P194S | Missense | SNP | 0.714 | 2 | - | ND |
CKLF | - | - | - | - | 1 | Loss | ND |
CKLF-CMTM1 | - | - | - | - | 1 | Loss | ND |
CKMT1A | - | - | - | - | 0 | Del | ND |
CKMT1B | - | - | - | - | 1 | Loss | ND |
CKS1B | - | - | - | - | 3 | Gain | ND |
CLCN2 | p.Y553C | Missense | SNP | 0.503 | 2 | - | ND |
CLCN3 | - | - | - | - | 3 | Gain | ND |
CLCN6 | - | - | - | - | 3 | Gain | ND |
CLCNKA | p.E3K | Missense | SNP | 0.356 | 3 | Gain | ND |
CLCNKB | p.G23N | Missense | DNP | 0.712 | 3 | Gain | ND |
CLDN12 | - | - | - | - | 3 | Gain | ND |
CLDN14 | p.M18I | Missense | SNP | 0.359 | 2 | - | ND |
CLDN15 | - | - | - | - | 3 | Gain | ND |
CLDN22 | - | - | - | - | 3 | Gain | ND |
CLDN24 | - | - | - | - | 3 | Gain | ND |
CLDN3 | - | - | - | - | 3 | Gain | ND |
CLDN4 | p.V100M | Missense | SNP | 0.354 | 3 | Gain | ND |
CLDN5 | - | - | - | - | 3 | Gain | ND |
CLDN6 | p.L174* p.L173F | Nonsense Missense | SNP SNP | 0.402 0.416 | 2 | - | ND |
CLEC16A | p.S53F | Missense | SNP | 0.544 | 2 | - | ND |
CLEC18A | - | - | - | - | 1 | Loss | ND |
CLEC18B | - | - | - | - | 1 | Loss | ND |
CLEC18C | - | - | - | - | 1 | Loss | ND |
CLEC3A | - | - | - | - | 1 | Loss | ND |
CLGN | - | - | - | - | 3 | Gain | ND |
CLIC4 | - | - | - | - | 3 | Gain | ND |
CLIP2 | - | - | - | - | 4 | Gain | ND |
CLK2 | - | - | - | - | 3 | Gain | ND |
CLK3 | - | - | - | - | 3 | Gain | ND |
CLN6 | - | - | - | - | 3 | Gain | ND |
CLPX | - | - | - | - | 3 | Gain | ND |
CLSPN | - | - | - | - | 3 | Gain | ND |
CLSTN1 | - | - | - | - | 3 | Gain | ND |
CLTA | - | - | - | - | 1 | Loss | ND |
CLTCL1 | - | - | - | - | 3 | Gain | ND |
CLVS2 | p.D93N | Missense | SNP | 0.683 | 2 | - | ND |
CMA1 | p.E21V | Missense | SNP | 0.517 | 2 | - | ND |
CMC2 | - | - | - | - | 1 | Loss | ND |
CMIP | p.S349F | Missense | SNP | 0.497 | 1 | Loss | ND |
CMKLR1 | p.P313S | Missense | SNP | 0.404 | 2 | - | ND |
CMTM1 | - | - | - | - | 1 | Loss | ND |
CMTM2 | - | - | - | - | 1 | Loss | ND |
CMTM3 | - | - | - | - | 1 | Loss | ND |
CMTM4 | - | - | - | - | 1 | Loss | ND |
CMTM5 | - | - | - | - | 1 | Loss | ND |
CMTR2 | - | - | - | - | 1 | Loss | ND |
CNBD1 | p.T143A | Missense | SNP | 0.484 | 2 | - | ND |
CNEP1R1 | - | - | - | - | 1 | Loss | ND |
CNGA2 | p.D555N | Missense | SNP | 0.462 | ND | ND | ND |
CNGB1 | - | - | - | - | 1 | Loss | ND |
CNIH3 | - | - | - | - | 3 | Gain | ND |
CNIH4 | - | - | - | - | 3 | Gain | ND |
CNKSR1 | - | - | - | - | 3 | Gain | ND |
CNOT1 | - | - | - | - | 1 | Loss | ND |
CNOT2 | p.T93I | Missense | SNP | 0.630 | 2 | - | ND |
CNOT6L | - | - | - | - | 1 | Loss | ND |
CNPY1 | - | - | - | - | 3 | Gain | ND |
CNPY4 | - | - | - | - | 3 | Gain | ND |
CNR2 | - | - | - | - | 3 | Gain | ND |
CNST | - | - | - | - | 3 | Gain | ND |
CNTFR | - | - | - | - | 0 | Del | ND |
CNTLN | - | - | - | - | 0 | Del | ND |
CNTN2 | - | - | - | - | 3 | Gain | ND |
CNTN4 | p.D217N | Missense | SNP | 0.256 | 2 | - | ND |
CNTNAP1 | p.S584F | Missense | SNP | 0.286 | 2 | - | ND |
CNTNAP2 | - | - | - | - | 3 | Gain | ND |
CNTNAP3 | - | - | - | - | 1 | Loss | ND |
CNTNAP3B | - | - | - | - | 1 | Loss | ND |
CNTNAP4 | - | - | - | - | 1 | Loss | ND |
CNTNAP5 | p.E1290K | Missense | SNP | 0.215 | 2 | - | ND |
COA1 | - | - | - | - | 3 | Gain | ND |
COA6 | - | - | - | - | 3 | Gain | ND |
COASY | p.F330L | Missense | SNP | 0.384 | 2 | - | ND |
COBL | - | - | - | - | 3 | Gain | ND |
COG2 | - | - | - | - | 3 | Gain | ND |
COG4 | - | - | - | - | 1 | Loss | ND |
COG5 | - | - | - | - | 3 | Gain | ND |
COG7 | p.E610G | Missense | SNP | 0.213 | 2 | - | ND |
COG8 | - | - | - | - | 1 | Loss | ND |
COL10A1 | p.G206D | Missense | SNP | 0.297 | 2 | - | ND |
COL11A1 | p.P1355S | Missense | SNP | 0.265 | 2 | - | ND |
COL19A1 | p.R877* | Nonsense | SNP | 0.180 | 2 | - | ND |
COL1A2 | - | - | - | - | 4 | Gain | ND |
COL21A1 | p.G922E p.G533S | Missense Missense | SNP SNP | 0.289 0.325 | 2 | - | ND |
COL22A1 | p.P671L | Missense | SNP | 0.256 | 2 | - | ND |
COL25A1 | - | - | - | - | 1 | Loss | ND |
COL26A1 | p.C126W | Missense | SNP | 0.270 | 3 | Gain | ND |
COL27A1 | p.X945_splice | Splice_Site | SNP | 0.726 | 2 | - | ND |
COL28A1 | - | - | - | - | 3 | Gain | ND |
COL4A3 | p.P460S p.G839R | Missense Missense | SNP SNP | 0.475 0.298 | 2 | - | ND |
COL4A4 | p.W1596* p.P917S p.P883S | Nonsense Missense Missense | SNP SNP SNP | 0.211 0.217 0.243 | 2 | - | ND |
COL5A1 | p.P560L | Missense | SNP | 1.000 | 2 | - | ND |
COL6A5 | p.P1717S | Missense | SNP | 0.471 | 2 | - | ND |
COL8A2 | p.G179R | Missense | SNP | 0.204 | 3 | Gain | ND |
COL9A1 | p.P892S | Missense | SNP | 0.413 | 2 | - | ND |
COLGALT1 | p.E314K | Missense | SNP | 0.526 | 2 | - | ND |
COLGALT2 | - | - | - | - | 3 | Gain | ND |
COMMD3 | - | - | - | - | 1 | Loss | ND |
COMMD3-BMI1 | - | - | - | - | 1 | Loss | ND |
COMMD4 | - | - | - | - | 3 | Gain | ND |
COMMD8 | p.E5K | Missense | SNP | 0.250 | 2 | - | ND |
COMT | p.E68K | Missense | DNP | 0.596 | 3 | Gain | ND |
COP1 | - | - | - | - | 3 | Gain | ND |
COPA | - | - | - | - | 3 | Gain | ND |
COPG2 | - | - | - | - | 3 | Gain | ND |
COPS4 | - | - | - | - | 1 | Loss | ND |
COPS6 | - | - | - | - | 3 | Gain | ND |
COQ2 | - | - | - | - | 1 | Loss | ND |
COQ8A | - | - | - | - | 3 | Gain | ND |
COQ9 | - | - | - | - | 1 | Loss | ND |
CORO2B | - | - | - | - | 3 | Gain | ND |
CORT | - | - | - | - | 3 | Gain | ND |
COTL1 | - | - | - | - | 1 | Loss | ND |
COX10 | p.P382S | Missense | SNP | 0.301 | 2 | - | ND |
COX19 | - | - | - | - | 3 | Gain | ND |
COX20 | - | - | - | - | 3 | Gain | ND |
COX4I1 | - | - | - | - | 1 | Loss | ND |
COX5A | - | - | - | - | 3 | Gain | ND |
CPA1 | - | - | - | - | 3 | Gain | ND |
CPA2 | - | - | - | - | 3 | Gain | ND |
CPA4 | - | - | - | - | 3 | Gain | ND |
CPA5 | - | - | - | - | 3 | Gain | ND |
CPE | p.G178D | Missense | SNP | 0.434 | 3 | Gain | ND |
CPEB1 | - | - | - | - | 3 | Gain | ND |
CPED1 | - | - | - | - | 3 | Gain | ND |
CPLANE1 | - | - | - | - | 3 | Gain | ND |
CPLANE2 | - | - | - | - | 3 | Gain | ND |
CPLX3 | - | - | - | - | 3 | Gain | ND |
CPM | p.R289C | Missense | SNP | 0.325 | 2 | - | ND |
CPNE2 | - | - | - | - | 1 | Loss | ND |
CPNE4 | p.S234F | Missense | SNP | 0.281 | 2 | - | ND |
CPNE7 | - | - | - | - | 1 | Loss | ND |
CPSF4 | - | - | - | - | 3 | Gain | ND |
CPT1B | p.P371F | Missense | DNP | 0.487 | 2 | - | ND |
CPTP | - | - | - | - | 3 | Gain | ND |
CPVL | - | - | - | - | 3 | Gain | ND |
CR1 | - | - | - | - | 3 | Gain | ND |
CR1L | - | - | - | - | 3 | Gain | ND |
CR2 | - | - | - | - | 3 | Gain | ND |
CRABP1 | - | - | - | - | 3 | Gain | ND |
CRABP2 | - | - | - | - | 3 | Gain | ND |
CRB1 | p.E1122K | Missense | SNP | 0.142 | 3 | Gain | ND |
CRCP | - | - | - | - | 3 | Gain | ND |
CREB3 | - | - | - | - | 1 | Loss | ND |
CREB3L3 | p.S338F | Missense | SNP | 0.466 | 2 | - | ND |
CREB3L4 | - | - | - | - | 3 | Gain | ND |
CREB5 | - | - | - | - | 3 | Gain | ND |
CREBBP | p.P844S | Missense | SNP | 0.116 | 2 | - | ND |
CREG1 | - | - | - | - | 3 | Gain | ND |
CREM | - | - | - | - | 1 | Loss | ND |
CRHR2 | p.S327F | Missense | SNP | 0.372 | 3 | Gain | ND |
CRISP2 | p.G186R | Missense | SNP | 0.362 | 2 | - | ND |
CRISPLD2 | - | - | - | - | 1 | Loss | ND |
CRKL | - | - | - | - | 3 | Gain | ND |
CRNN | p.G431R | Missense | SNP | 0.238 | 3 | Gain | ND |
CROCC | - | - | - | - | 3 | Gain | ND |
CROT | - | - | - | - | 4 | Gain | ND |
CRP | - | - | - | - | 3 | Gain | ND |
CRTC2 | - | - | - | - | 3 | Gain | ND |
CRTC3 | - | - | - | - | 3 | Gain | ND |
CRYBA4 | - | - | - | - | 3 | Gain | ND |
CRYBB1 | - | - | - | - | 3 | Gain | ND |
CRYBB2 | p.P37S | Missense | SNP | 0.582 | 3 | Gain | ND |
CRYBB3 | - | - | - | - | 3 | Gain | ND |
CRYBG2 | - | - | - | - | 3 | Gain | ND |
CRYGN | - | - | - | - | 3 | Gain | ND |
CSF2RB | p.K619R | Missense | SNP | 0.577 | 3 | Gain | ND |
CSF3R | - | - | - | - | 3 | Gain | ND |
CSGALNACT2 | - | - | - | - | 1 | Loss | ND |
CSK | - | - | - | - | 3 | Gain | ND |
CSMD1 | p.G3461E p.S1514F p.P39S | Missense Missense Missense | SNP SNP SNP | 0.264 0.425 0.274 | 2 | - | ND |
CSMD2 | p.P2299S p.G2150K p.P259S | Missense Missense Missense | SNP DNP SNP | 0.628 0.315 0.369 | 3 | Gain | ND |
CSMD3 | p.R1417C p.E610K | Missense Missense | SNP SNP | 0.515 0.512 | 2 | - | ND |
CSN2 | p.S23L | Missense | SNP | 0.206 | 2 | - | ND |
CSNK1A1 | p.R244K | Missense | SNP | 0.298 | 2 | - | ND |
CSNK1E | - | - | - | - | 3 | Gain | ND |
CSNK1G1 | - | - | - | - | 3 | Gain | ND |
CSNK2A2 | - | - | - | - | 1 | Loss | ND |
CSPG4 | - | - | - | - | 3 | Gain | ND |
CSRP1 | - | - | - | - | 3 | Gain | ND |
CSTF2T | - | - | - | - | 1 | Loss | ND |
CT62 | - | - | - | - | 3 | Gain | ND |
CTCF | - | - | - | - | 1 | Loss | ND |
CTDP1 | p.P312L | Missense | SNP | 0.532 | 2 | - | ND |
CTLA4 | p.R193K | Missense | SNP | 0.238 | 2 | - | ND |
CTNNBIP1 | - | - | - | - | 3 | Gain | ND |
CTNND2 | p.P277S | Missense | SNP | 0.342 | 2 | - | ND |
CTNS | p.V340A | Missense | SNP | 0.685 | 2 | - | ND |
CTRB1 | - | - | - | - | 1 | Loss | ND |
CTRB2 | - | - | - | - | 1 | Loss | ND |
CTRC | - | - | - | - | 3 | Gain | ND |
CTRL | - | - | - | - | 1 | Loss | ND |
CTSE | - | - | - | - | 3 | Gain | ND |
CTSH | - | - | - | - | 3 | Gain | ND |
CTSO | - | - | - | - | 3 | Gain | ND |
CTTNBP2 | - | - | - | - | 3 | Gain | ND |
CTU2 | - | - | - | - | 1 | Loss | ND |
CUBN | - | - | - | - | 1 | Loss | ND |
CUL1 | - | - | - | - | 3 | Gain | ND |
CUL2 | - | - | - | - | 1 | Loss | ND |
CUX1 | - | - | - | - | 3 | Gain | ND |
CUX2 | p.E86K | Missense | SNP | 0.287 | 2 | - | ND |
CX3CL1 | - | - | - | - | 1 | Loss | ND |
CXCL10 | - | - | - | - | 1 | Loss | ND |
CXCL11 | - | - | - | - | 1 | Loss | ND |
CXCL12 | - | - | - | - | 1 | Loss | ND |
CXCL13 | - | - | - | - | 1 | Loss | ND |
CXCL8 | p.E82K | Missense | SNP | 0.530 | 2 | - | ND |
CXCL9 | - | - | - | - | 1 | Loss | ND |
CXCR1 | p.N349S | Missense | SNP | 0.416 | 2 | - | ND |
CXorf66 | p.S151N | Missense | SNP | 0.989 | ND | ND | ND |
CXorf67 | p.S262F | Missense | SNP | 0.448 | ND | ND | ND |
CXXC4 | - | - | - | - | 1 | Loss | ND |
CYB5B | - | - | - | - | 1 | Loss | ND |
CYB5R1 | - | - | - | - | 3 | Gain | ND |
CYB5RL | p.G172E | Missense | SNP | 0.185 | 2 | - | ND |
CYBA | - | - | - | - | 1 | Loss | ND |
CYCS | - | - | - | - | 3 | Gain | ND |
CYFIP1 | - | - | - | - | 3 | Gain | ND |
CYLD | - | - | - | - | 1 | Loss | ND |
CYP11A1 | - | - | - | - | 3 | Gain | ND |
CYP1A1 | - | - | - | - | 3 | Gain | ND |
CYP1A2 | - | - | - | - | 3 | Gain | ND |
CYP21A2 | - | - | - | - | 1 | Loss | ND |
CYP2C18 | p.A321T | Missense | SNP | 0.268 | 2 | - | ND |
CYP2E1 | p.T212F | Missense | DNP | 0.470 | 1 | Loss | ND |
CYP2U1 | - | - | - | - | 1 | Loss | ND |
CYP2W1 | - | - | - | - | 3 | Gain | ND |
CYP3A4 | - | - | - | - | 3 | Gain | ND |
CYP3A43 | - | - | - | - | 3 | Gain | ND |
CYP3A5 | - | - | - | - | 3 | Gain | ND |
CYP3A7 | p.E382K p.G48E p.G31E | Missense Missense Missense | SNP SNP SNP | 0.492 0.296 0.699 | 3 | Gain | ND |
CYP3A7-CYP3A51P | - | - | - | - | 3 | Gain | ND |
CYP4A11 | p.P384S | Missense | SNP | 0.220 | 2 | - | ND |
CYP4F12 | p.D285N p.D374N p.P460S | Missense Missense Missense | SNP SNP SNP | 0.499 0.242 0.500 | 2 | - | ND |
CYP4V2 | - | - | - | - | 3 | Gain | ND |
CYP51A1 | - | - | - | - | 3 | Gain | ND |
CYP7B1 | p.R452Q p.P96L | Missense Missense | SNP SNP | 0.183 0.591 | 2 | - | ND |
CYP8B1 | p.M47I | Missense | SNP | 0.234 | 2 | - | ND |
CYTH3 | - | - | - | - | 3 | Gain | ND |
CYTH4 | - | - | - | - | 3 | Gain | ND |
DAB2 | - | - | - | - | 3 | Gain | ND |
DACH2 | p.D158N | Missense | SNP | 0.529 | ND | ND | ND |
DAGLB | - | - | - | - | 3 | Gain | ND |
DAP3 | - | - | - | - | 3 | Gain | ND |
DAPK2 | - | - | - | - | 3 | Gain | ND |
DAPP1 | - | - | - | - | 1 | Loss | ND |
DARS2 | - | - | - | - | 3 | Gain | ND |
DBF4 | - | - | - | - | 3 | Gain | ND |
DBNDD1 | - | - | - | - | 1 | Loss | ND |
DBNL | - | - | - | - | 3 | Gain | ND |
DCAF10 | - | - | - | - | 1 | Loss | ND |
DCAF12 | - | - | - | - | 0 | Del | ND |
DCAF4L2 | p.R125W | Missense | SNP | 0.505 | 2 | - | ND |
DCAF6 | - | - | - | - | 3 | Gain | ND |
DCAF8 | - | - | - | - | 3 | Gain | ND |
DCDC2B | - | - | - | - | 3 | Gain | ND |
DCHS2 | - | - | - | - | 1 | Loss | ND |
DCLK1 | p.G393E p.R60C | Missense Missense | SNP SNP | 0.323 0.362 | 2 | - | ND |
DCLK2 | - | - | - | - | 1 | Loss | ND |
DCLRE1C | - | - | - | - | 1 | Loss | ND |
DCST1 | - | - | - | - | 3 | Gain | ND |
DCST2 | - | - | - | - | 3 | Gain | ND |
DCTD | - | - | - | - | 3 | Gain | ND |
DCTN3 | - | - | - | - | 0 | Del | ND |
DDC | - | - | - | - | 3 | Gain | ND |
DDI2 | - | - | - | - | 3 | Gain | ND |
DDIT4L | - | - | - | - | 1 | Loss | ND |
DDOST | - | - | - | - | 3 | Gain | ND |
DDR2 | - | - | - | - | 3 | Gain | ND |
DDT | - | - | - | - | 3 | Gain | ND |
DDTL | - | - | - | - | 3 | Gain | ND |
DDX17 | - | - | - | - | 3 | Gain | ND |
DDX19A | - | - | - | - | 1 | Loss | ND |
DDX19B | - | - | - | - | 1 | Loss | ND |
DDX28 | - | - | - | - | 1 | Loss | ND |
DDX4 | - | - | - | - | 3 | Gain | ND |
DDX50 | p.M528V | Missense | SNP | 0.326 | 2 | - | ND |
DDX56 | - | - | - | - | 3 | Gain | ND |
DDX58 | - | - | - | - | 0 | Del | ND |
DDX59 | - | - | - | - | 3 | Gain | ND |
DDX60 | - | - | - | - | 3 | Gain | ND |
DDX60L | - | - | - | - | 3 | Gain | ND |
DEDD | - | - | - | - | 3 | Gain | ND |
DEF8 | p.L35F | Missense | SNP | 1.000 | 1 | Loss | ND |
DEFB110 | p.E50K | Missense | SNP | 0.400 | 2 | - | ND |
DEGS1 | - | - | - | - | 3 | Gain | ND |
DENND1B | - | - | - | - | 3 | Gain | ND |
DENND4A | - | - | - | - | 3 | Gain | ND |
DENND4B | - | - | - | - | 3 | Gain | ND |
DENND4C | - | - | - | - | 0 | Del | ND |
DEPDC1B | - | - | - | - | 3 | Gain | ND |
DEPDC5 | - | - | - | - | 3 | Gain | ND |
DEPP1 | - | - | - | - | 1 | Loss | ND |
DERL3 | - | - | - | - | 3 | Gain | ND |
DESI2 | - | - | - | - | 3 | Gain | ND |
DET1 | - | - | - | - | 3 | Gain | ND |
DFFA | - | - | - | - | 3 | Gain | ND |
DFFB | - | - | - | - | 3 | Gain | ND |
DGCR2 | - | - | - | - | 3 | Gain | ND |
DGCR6 | - | - | - | - | 3 | Gain | ND |
DGCR6L | - | - | - | - | 3 | Gain | ND |
DGCR8 | p.A722V | Missense | DNP | 0.150 | 3 | Gain | ND |
DGKB | p.G108C | Missense | SNP | 0.325 | 3 | Gain | ND |
DHDDS | - | - | - | - | 3 | Gain | ND |
DHODH | - | - | - | - | 1 | Loss | ND |
DHRS2 | - | - | - | - | 1 | Loss | ND |
DHRS3 | - | - | - | - | 3 | Gain | ND |
DHRS4 | - | - | - | - | 1 | Loss | ND |
DHRS4L2 | - | - | - | - | 1 | Loss | ND |
DHRS9 | p.R41K | Missense | SNP | 0.225 | 2 | - | ND |
DHTKD1 | - | - | - | - | 1 | Loss | ND |
DHX29 | - | - | - | - | 3 | Gain | ND |
DHX38 | - | - | - | - | 1 | Loss | ND |
DHX8 | p.G897R | Missense | SNP | 0.287 | 2 | - | ND |
DHX9 | p.R781C | Missense | SNP | 0.158 | 3 | Gain | ND |
DIDO1 | p.S1617F | Missense | SNP | 0.265 | 2 | - | ND |
DIP2C | - | - | - | - | 1 | Loss | ND |
DIS3L | - | - | - | - | 3 | Gain | ND |
DISC1 | - | - | - | - | 3 | Gain | ND |
DISP1 | - | - | - | - | 3 | Gain | ND |
DISP2 | p.L1022F | Missense | SNP | 0.590 | 2 | - | ND |
DISP3 | p.R222Q | Missense | SNP | 0.151 | 3 | Gain | ND |
DKK1 | - | - | - | - | 1 | Loss | ND |
DKK2 | - | - | - | - | 1 | Loss | ND |
DLD | - | - | - | - | 3 | Gain | ND |
DLGAP3 | p.R653S | Missense | SNP | 0.661 | 3 | Gain | ND |
DLX5 | - | - | - | - | 3 | Gain | ND |
DLX6 | p.P195S p.R219C | Missense Missense | SNP SNP | 0.103 0.262 | 3 | Gain | ND |
DMAC1 | - | - | - | - | 0 | Del | ND |
DMC1 | - | - | - | - | 3 | Gain | ND |
DMD | p.L510F | Missense | SNP | 1.000 | ND | ND | ND |
DMP1 | - | - | - | - | 1 | Loss | ND |
DMRT1 | - | - | - | - | 0 | Del | ND |
DMRT2 | - | - | - | - | 0 | Del | ND |
DMRT3 | - | - | - | - | 0 | Del | ND |
DMRTA1 | - | - | - | - | 0 | Del | ND |
DMTF1 | - | - | - | - | 4 | Gain | ND |
DMWD | p.P276S | Missense | SNP | 0.297 | 2 | - | ND |
DMXL1 | p.G1150D | Missense | SNP | 0.280 | 2 | - | ND |
DNAAF1 | - | - | - | - | 1 | Loss | ND |
DNAAF4 | - | - | - | - | 3 | Gain | ND |
DNAAF5 | - | - | - | - | 3 | Gain | ND |
DNAH1 | p.L3278V | Missense | SNP | 0.477 | 2 | - | ND |
DNAH11 | - | - | - | - | 3 | Gain | ND |
DNAH14 | p.S2138F p.P2404L | Missense Missense | SNP SNP | 0.148 0.234 | 3 | Gain | ND |
DNAH17 | p.D4080N p.E1352K | Missense Missense | SNP SNP | 0.554 0.315 | 2 | - | ND |
DNAH3 | p.E3387K p.S1958F | Missense Missense | SNP SNP | 0.657 0.256 | 2 | - | ND |
DNAH5 | p.R4592* p.D4260N p.E2734K p.S2025F p.R1805C p.E1315K | Nonsense Missense Missense Missense Missense Missense | SNP SNP SNP SNP SNP SNP | 0.259 0.469 0.530 0.185 0.501 0.520 | 2 | - | ND |
DNAH6 | p.G574E p.P2312L | Missense Missense | SNP SNP | 0.448 0.552 | 2 | - | ND |
DNAH7 | p.P1940S p.D1568N p.E483K p.P333S | Missense Missense Missense Missense | SNP SNP SNP SNP | 0.310 0.247 0.481 0.529 | 2 | - | ND |
DNAH9 | p.A1589T p.W1679* | Missense Nonsense | SNP SNP | 0.208 0.338 | 2 | - | ND |
DNAI1 | - | - | - | - | 0 | Del | ND |
DNAJA1 | - | - | - | - | 0 | Del | ND |
DNAJA2 | - | - | - | - | 1 | Loss | ND |
DNAJA4 | - | - | - | - | 3 | Gain | ND |
DNAJB14 | - | - | - | - | 1 | Loss | ND |
DNAJB5 | - | - | - | - | 1 | Loss | ND |
DNAJB6 | - | - | - | - | 3 | Gain | ND |
DNAJB7 | - | - | - | - | 3 | Gain | ND |
DNAJB9 | - | - | - | - | 3 | Gain | ND |
DNAJC1 | - | - | - | - | 1 | Loss | ND |
DNAJC11 | - | - | - | - | 3 | Gain | ND |
DNAJC16 | p.S227F p.H530Y | Missense Missense | SNP SNP | 0.298 0.322 | 3 | Gain | ND |
DNAJC2 | - | - | - | - | 3 | Gain | ND |
DNAJC30 | - | - | - | - | 3 | Gain | ND |
DNAJC8 | - | - | - | - | 3 | Gain | ND |
DNAL4 | - | - | - | - | 3 | Gain | ND |
DNALI1 | - | - | - | - | 3 | Gain | ND |
DNM3 | - | - | - | - | 3 | Gain | ND |
DOCK1 | p.L1750Q | Missense | DNP | 1.000 | 2 | - | ND |
DOCK2 | p.X1763_splice | Splice_Site | SNP | 0.634 | 2 | - | ND |
DOCK3 | p.X73_splice p.P494L | Splice_Site Missense | SNP SNP | 0.448 0.192 | 2 | - | ND |
DOCK4 | p.P1327S | Missense | SNP | 0.178 | 3 | Gain | ND |
DOCK5 | p.S1306L | Missense | SNP | 0.350 | 2 | - | ND |
DOCK6 | p.D967N p.G655S | Missense Missense | SNP SNP | 0.231 0.485 | 2 | - | ND |
DOCK8 | p.S1573F | Missense | SNP | 0.990 | 0 | Del | ND |
DOK1 | p.P423F | Missense | DNP | 0.473 | 2 | - | ND |
DOK4 | - | - | - | - | 1 | Loss | ND |
DPCR1 | p.P1059L | Missense | SNP | 0.666 | ND | ND | ND |
DPEP1 | - | - | - | - | 1 | Loss | ND |
DPEP2 | - | - | - | - | 1 | Loss | ND |
DPEP3 | - | - | - | - | 1 | Loss | ND |
DPM3 | - | - | - | - | 3 | Gain | ND |
DPP10 | p.R562Q | Missense | SNP | 0.439 | 2 | - | ND |
DPP4 | p.S764F | Missense | SNP | 0.469 | 2 | - | ND |
DPP6 | - | - | - | - | 3 | Gain | ND |
DPP8 | - | - | - | - | 3 | Gain | ND |
DPPA4 | p.E155K | Missense | SNP | 0.191 | 2 | - | ND |
DPT | - | - | - | - | 3 | Gain | ND |
DPY19L1 | - | - | - | - | 3 | Gain | ND |
DPY19L4 | p.S435F | Missense | SNP | 0.500 | 2 | - | ND |
DPYSL3 | p.G578R | Missense | SNP | 0.323 | 2 | - | ND |
DPYSL4 | - | - | - | - | 1 | Loss | ND |
DPYSL5 | p.A199V | Missense | SNP | 0.357 | 2 | - | ND |
DRAM1 | p.P149L | Missense | SNP | 0.311 | 2 | - | ND |
DRAXIN | - | - | - | - | 3 | Gain | ND |
DRC7 | - | - | - | - | 1 | Loss | ND |
DRD5 | p.G37E | Missense | SNP | 0.185 | 2 | - | ND |
DRG1 | - | - | - | - | 3 | Gain | ND |
DRGX | - | - | - | - | 1 | Loss | ND |
DRICH1 | - | - | - | - | 3 | Gain | ND |
DROSHA | - | - | - | - | 3 | Gain | ND |
DSC2 | p.G263E | Missense | SNP | 0.490 | 2 | - | ND |
DSC3 | p.E400K | Missense | SNP | 0.181 | 2 | - | ND |
DSCAML1 | p.P315S | Missense | DNP | 0.667 | 2 | - | ND |
DSCC1 | p.X309_splice | Splice_Site | SNP | 0.455 | 2 | - | ND |
DSP | p.R1341C p.R1400Q p.Y1465* | Missense Missense Nonsense | DNP SNP SNP | 0.319 0.304 0.651 | 2 | - | ND |
DSPP | - | - | - | - | 1 | Loss | ND |
DSTYK | - | - | - | - | 3 | Gain | ND |
DTL | - | - | - | - | 3 | Gain | ND |
DTNA | p.S60F | Missense | SNP | 0.218 | 2 | - | ND |
DTX2 | - | - | - | - | 3 | Gain | ND |
DUS2 | - | - | - | - | 1 | Loss | ND |
DUS4L | - | - | - | - | 3 | Gain | ND |
DUSP10 | - | - | - | - | 3 | Gain | ND |
DUSP12 | - | - | - | - | 3 | Gain | ND |
DUSP18 | - | - | - | - | 3 | Gain | ND |
DUSP21 | p.E64K | Missense | SNP | 1.000 | ND | ND | ND |
DUSP23 | - | - | - | - | 3 | Gain | ND |
DUSP27 | - | - | - | - | 3 | Gain | ND |
DUXB | - | - | - | - | 1 | Loss | ND |
DVL1 | - | - | - | - | 3 | Gain | ND |
DYNC1I1 | - | - | - | - | 3 | Gain | ND |
DYNC1LI2 | - | - | - | - | 1 | Loss | ND |
DYNC2H1 | p.E4142K | Missense | SNP | 0.299 | 2 | - | ND |
DYNLRB2 | - | - | - | - | 1 | Loss | ND |
DYRK3 | - | - | - | - | 3 | Gain | ND |
DYTN | p.E75K | Missense | SNP | 0.287 | 2 | - | ND |
DZIP1 | p.R417K | Missense | SNP | 0.352 | 2 | - | ND |
E2F2 | - | - | - | - | 3 | Gain | ND |
E2F3 | p.L310P | Missense | SNP | 0.658 | 2 | - | ND |
E2F4 | - | - | - | - | 1 | Loss | ND |
E2F5 | p.S234R p.S235L | Missense Missense | SNP SNP | 0.466 0.480 | 2 | - | ND |
EBF4 | p.G76R | Missense | SNP | 0.560 | 2 | - | ND |
EBLN1 | - | - | - | - | 1 | Loss | ND |
ECE1 | - | - | - | - | 3 | Gain | ND |
ECE2 | p.R248Q | Missense | SNP | 0.216 | 2 | - | ND |
ECHDC3 | - | - | - | - | 1 | Loss | ND |
ECHS1 | - | - | - | - | 1 | Loss | ND |
EDAR | p.H173R | Missense | SNP | 0.549 | 2 | - | ND |
EDARADD | - | - | - | - | 3 | Gain | ND |
EDC3 | - | - | - | - | 3 | Gain | ND |
EDC4 | - | - | - | - | 1 | Loss | ND |
EDEM3 | - | - | - | - | 3 | Gain | ND |
EDNRA | - | - | - | - | 3 | Gain | ND |
EEPD1 | - | - | - | - | 3 | Gain | ND |
EFCAB10 | - | - | - | - | 3 | Gain | ND |
EFCAB12 | p.E411K | Missense | SNP | 0.235 | 2 | - | ND |
EFCAB2 | - | - | - | - | 3 | Gain | ND |
EFCAB6 | p.N290S | Missense | SNP | 0.521 | 2 | - | ND |
EFCAB9 | p.S22F | Missense | SNP | 0.676 | 2 | - | ND |
EFCC1 | p.G234R p.C429W | Missense Missense | SNP SNP | 0.235 0.267 | 2 | - | ND |
EFHD2 | - | - | - | - | 3 | Gain | ND |
EFL1 | - | - | - | - | 3 | Gain | ND |
EFNA1 | - | - | - | - | 3 | Gain | ND |
EFNA3 | - | - | - | - | 3 | Gain | ND |
EFNA4 | - | - | - | - | 3 | Gain | ND |
EFS | - | - | - | - | 1 | Loss | ND |
EGF | p.X110_splice | Splice_Site | SNP | 1.000 | 1 | Loss | ND |
EGFLAM | - | - | - | - | 3 | Gain | ND |
EGFR | - | - | - | - | 3 | Gain | ND |
EGLN1 | - | - | - | - | 3 | Gain | ND |
EHBP1 | p.P637L | Missense | SNP | 0.290 | 2 | - | ND |
EIF2AK1 | - | - | - | - | 3 | Gain | ND |
EIF2AK2 | p.S242F | Missense | SNP | 0.185 | 2 | - | ND |
EIF2D | - | - | - | - | 3 | Gain | ND |
EIF3B | - | - | - | - | 3 | Gain | ND |
EIF3D | p.L509F | Missense | SNP | 0.513 | 3 | Gain | ND |
EIF3I | - | - | - | - | 3 | Gain | ND |
EIF3L | - | - | - | - | 3 | Gain | ND |
EIF4A2 | p.Q202* | Nonsense | SNP | 0.477 | 2 | - | ND |
EIF4E | - | - | - | - | 1 | Loss | ND |
EIF4ENIF1 | - | - | - | - | 3 | Gain | ND |
EIF4G1 | p.T674A | Missense | SNP | 0.468 | 2 | - | ND |
EIF4G3 | - | - | - | - | 3 | Gain | ND |
EIF4H | - | - | - | - | 4 | Gain | ND |
ELAVL2 | - | - | - | - | 0 | Del | ND |
ELAVL4 | p.X120_splice | Splice_Site | SNP | 0.716 | 2 | - | ND |
ELF2 | - | - | - | - | 3 | Gain | ND |
ELF3 | - | - | - | - | 3 | Gain | ND |
ELFN1 | - | - | - | - | 3 | Gain | ND |
ELFN2 | p.E719K | Missense | SNP | 0.570 | 3 | Gain | ND |
ELK4 | - | - | - | - | 3 | Gain | ND |
ELMO1 | - | - | - | - | 3 | Gain | ND |
ELMO3 | - | - | - | - | 1 | Loss | ND |
ELMOD2 | - | - | - | - | 3 | Gain | ND |
ELN | - | - | - | - | 3 | Gain | ND |
ELOA | - | - | - | - | 3 | Gain | ND |
ELOVL6 | - | - | - | - | 1 | Loss | ND |
EMB | - | - | - | - | 3 | Gain | ND |
EMC1 | - | - | - | - | 3 | Gain | ND |
EMC8 | - | - | - | - | 1 | Loss | ND |
EMCN | - | - | - | - | 1 | Loss | ND |
EMID1 | - | - | - | - | 3 | Gain | ND |
EML4 | p.A289V | Missense | SNP | 0.167 | 2 | - | ND |
EN2 | - | - | - | - | 3 | Gain | ND |
ENAH | - | - | - | - | 3 | Gain | ND |
ENHO | - | - | - | - | 0 | Del | ND |
ENKD1 | - | - | - | - | 1 | Loss | ND |
ENKUR | - | - | - | - | 1 | Loss | ND |
ENO1 | - | - | - | - | 3 | Gain | ND |
ENOPH1 | - | - | - | - | 1 | Loss | ND |
ENOX2 | p.R237C | Missense | SNP | 1.000 | ND | ND | ND |
ENPEP | - | - | - | - | 1 | Loss | ND |
ENPP6 | - | - | - | - | 3 | Gain | ND |
ENTHD1 | - | - | - | - | 3 | Gain | ND |
ENTPD3 | p.E483K | Missense | SNP | 0.268 | 2 | - | ND |
EP300 | p.P2064L | Missense | SNP | 0.574 | 3 | Gain | ND |
EP400 | p.S2650F p.Q2704* | Missense Nonsense | SNP SNP | 0.442 0.588 | 2 | - | ND |
EPAS1 | p.P599L | Missense | SNP | 0.525 | 2 | - | ND |
EPB41 | - | - | - | - | 3 | Gain | ND |
EPB41L4A | p.M374I | Missense | SNP | 0.714 | 2 | - | ND |
EPC1 | - | - | - | - | 1 | Loss | ND |
EPDR1 | - | - | - | - | 3 | Gain | ND |
EPHA2 | - | - | - | - | 3 | Gain | ND |
EPHA3 | p.A272T | Missense | SNP | 0.528 | 2 | - | ND |
EPHA4 | p.R466W p.W348* | Missense Nonsense | SNP SNP | 0.489 0.459 | 2 | - | ND |
EPHA6 | p.D770N | Missense | SNP | 0.456 | 2 | - | ND |
EPHA7 | p.S287F | Missense | SNP | 0.224 | 2 | - | ND |
EPHA8 | - | - | - | - | 3 | Gain | ND |
EPHB2 | p.R311K | Missense | SNP | 0.456 | 3 | Gain | ND |
EPHB4 | - | - | - | - | 3 | Gain | ND |
EPHX1 | - | - | - | - | 3 | Gain | ND |
EPHX2 | p.E444K | Missense | SNP | 0.190 | 2 | - | ND |
EPO | - | - | - | - | 3 | Gain | ND |
EPRS | - | - | - | - | 3 | Gain | ND |
EPX | p.P269S | Missense | SNP | 0.317 | 2 | - | ND |
EQTN | - | - | - | - | 0 | Del | ND |
ERC2 | p.K776* p.R88* | Nonsense Nonsense | SNP SNP | 0.456 0.462 | 2 | - | ND |
ERCC6 | - | - | - | - | 1 | Loss | ND |
ERICH3 | p.E978K | Missense | SNP | 0.809 | 2 | - | ND |
ERMP1 | - | - | - | - | 0 | Del | ND |
ERO1B | - | - | - | - | 3 | Gain | ND |
ERRFI1 | - | - | - | - | 3 | Gain | ND |
ERV3-1 | - | - | - | - | 3 | Gain | ND |
ESM1 | - | - | - | - | 3 | Gain | ND |
ESPL1 | p.P308S | Missense | SNP | 0.316 | 2 | - | ND |
ESPN | - | - | - | - | 3 | Gain | ND |
ESRP2 | - | - | - | - | 1 | Loss | ND |
ESRRG | - | - | - | - | 3 | Gain | ND |
ESS2 | - | - | - | - | 3 | Gain | ND |
ESYT2 | - | - | - | - | 3 | Gain | ND |
ETFA | - | - | - | - | 3 | Gain | ND |
ETFDH | - | - | - | - | 3 | Gain | ND |
ETNK2 | - | - | - | - | 3 | Gain | ND |
ETNPPL | - | - | - | - | 1 | Loss | ND |
ETV1 | - | - | - | - | 3 | Gain | ND |
ETV3 | - | - | - | - | 3 | Gain | ND |
ETV3L | - | - | - | - | 3 | Gain | ND |
ETV6 | p.L117F | Missense | SNP | 0.400 | 2 | - | ND |
EVA1B | - | - | - | - | 3 | Gain | ND |
EVPL | p.P28S | Missense | SNP | 0.550 | 2 | - | ND |
EVX1 | - | - | - | - | 3 | Gain | ND |
EWSR1 | - | - | - | - | 3 | Gain | ND |
EXD1 | p.G386R | Missense | SNP | 0.996 | 2 | - | ND |
EXO1 | - | - | - | - | 3 | Gain | ND |
EXOC1 | p.S491F | Missense | SNP | 0.420 | 2 | - | ND |
EXOC3L1 | - | - | - | - | 1 | Loss | ND |
EXOC8 | - | - | - | - | 3 | Gain | ND |
EXOSC10 | p.P67S | Missense | SNP | 0.319 | 3 | Gain | ND |
EXOSC2 | p.P13L | Missense | SNP | 0.301 | 2 | - | ND |
EXOSC3 | - | - | - | - | 1 | Loss | ND |
EXOSC6 | - | - | - | - | 1 | Loss | ND |
EXOSC9 | - | - | - | - | 1 | Loss | ND |
EXTL1 | - | - | - | - | 3 | Gain | ND |
EYA3 | - | - | - | - | 3 | Gain | ND |
EYA4 | p.D404N | Missense | SNP | 0.202 | 2 | - | ND |
EZH2 | - | - | - | - | 3 | Gain | ND |
F11 | - | - | - | - | 3 | Gain | ND |
F11R | - | - | - | - | 3 | Gain | ND |
F13B | p.M403I | Missense | SNP | 0.227 | 3 | Gain | ND |
F5 | p.Q960* | Nonsense | SNP | 0.339 | 3 | Gain | ND |
F9 | p.E259K | Missense | SNP | 0.250 | ND | ND | ND |
FA2H | - | - | - | - | 1 | Loss | ND |
FAAP20 | - | - | - | - | 3 | Gain | ND |
FABP2 | - | - | - | - | 1 | Loss | ND |
FABP3 | - | - | - | - | 3 | Gain | ND |
FAH | - | - | - | - | 3 | Gain | ND |
FAM107B | - | - | - | - | 1 | Loss | ND |
FAM110D | - | - | - | - | 3 | Gain | ND |
FAM118A | - | - | - | - | 3 | Gain | ND |
FAM126A | - | - | - | - | 3 | Gain | ND |
FAM129A | - | - | - | - | 3 | Gain | ND |
FAM131C | - | - | - | - | 3 | Gain | ND |
FAM133B | - | - | - | - | 4 | Gain | ND |
FAM13A | - | - | - | - | 1 | Loss | ND |
FAM13C | - | - | - | - | 1 | Loss | ND |
FAM149A | - | - | - | - | 3 | Gain | ND |
FAM151B | p.S238F | Missense | SNP | 0.342 | 2 | - | ND |
FAM160A1 | - | - | - | - | 1 | Loss | ND |
FAM163A | - | - | - | - | 3 | Gain | ND |
FAM166B | - | - | - | - | 1 | Loss | ND |
FAM167B | - | - | - | - | 3 | Gain | ND |
FAM169B | - | - | - | - | 3 | Gain | ND |
FAM170B | - | - | - | - | 1 | Loss | ND |
FAM171A1 | - | - | - | - | 1 | Loss | ND |
FAM174B | - | - | - | - | 3 | Gain | ND |
FAM177B | - | - | - | - | 3 | Gain | ND |
FAM179A | p.G153E | Missense | SNP | 0.500 | ND | ND | ND |
FAM185A | - | - | - | - | 3 | Gain | ND |
FAM189A1 | - | - | - | - | 3 | Gain | ND |
FAM189B | - | - | - | - | 3 | Gain | ND |
FAM192A | - | - | - | - | 1 | Loss | ND |
FAM193A | - | - | - | - | 3 | Gain | ND |
FAM198B | - | - | - | - | 3 | Gain | ND |
FAM19A5 | - | - | - | - | 3 | Gain | ND |
FAM200A | - | - | - | - | 3 | Gain | ND |
FAM205A | - | - | - | - | 0 | Del | ND |
FAM208B | - | - | - | - | 1 | Loss | ND |
FAM20B | - | - | - | - | 3 | Gain | ND |
FAM20C | - | - | - | - | 3 | Gain | ND |
FAM214A | - | - | - | - | 3 | Gain | ND |
FAM214B | - | - | - | - | 1 | Loss | ND |
FAM218A | - | - | - | - | 3 | Gain | ND |
FAM219A | - | - | - | - | 0 | Del | ND |
FAM219B | - | - | - | - | 3 | Gain | ND |
FAM220A | - | - | - | - | 3 | Gain | ND |
FAM221A | - | - | - | - | 3 | Gain | ND |
FAM221B | - | - | - | - | 1 | Loss | ND |
FAM227A | p.P410S | Missense | SNP | 0.435 | 3 | Gain | ND |
FAM229A | - | - | - | - | 3 | Gain | ND |
FAM240B | - | - | - | - | 1 | Loss | ND |
FAM241A | - | - | - | - | 1 | Loss | ND |
FAM3C | - | - | - | - | 3 | Gain | ND |
FAM43B | - | - | - | - | 3 | Gain | ND |
FAM47C | p.G770R p.S894F | Missense Missense | SNP SNP | 0.496 0.489 | ND | ND | ND |
FAM47E | - | - | - | - | 1 | Loss | ND |
FAM47E-STBD1 | - | - | - | - | 1 | Loss | ND |
FAM71A | - | - | - | - | 3 | Gain | ND |
FAM71F1 | - | - | - | - | 3 | Gain | ND |
FAM71F2 | - | - | - | - | 3 | Gain | ND |
FAM76A | - | - | - | - | 3 | Gain | ND |
FAM78B | - | - | - | - | 3 | Gain | ND |
FAM81A | - | - | - | - | 3 | Gain | ND |
FAM83F | p.L442F | Missense | SNP | 0.309 | 3 | Gain | ND |
FAM84A | p.S97F | Missense | SNP | 0.209 | 2 | - | ND |
FAM84B | p.V167I | Missense | SNP | 0.242 | 2 | - | ND |
FAM89A | - | - | - | - | 3 | Gain | ND |
FAM92B | - | - | - | - | 1 | Loss | ND |
FAM95C | - | - | - | - | 1 | Loss | ND |
FAN1 | - | - | - | - | 3 | Gain | ND |
FANCA | - | - | - | - | 1 | Loss | ND |
FANCG | - | - | - | - | 1 | Loss | ND |
FANCI | - | - | - | - | 3 | Gain | ND |
FARSA | p.P45S | Missense | SNP | 0.463 | 2 | - | ND |
FASLG | - | - | - | - | 3 | Gain | ND |
FASTK | p.G84R | Missense | SNP | 0.326 | 3 | Gain | ND |
FAT1 | p.S4272F | Missense | SNP | 0.180 | 3 | Gain | ND |
FAT3 | p.S239F p.G618E p.G1858E | Missense Missense Missense | SNP SNP SNP | 0.697 0.317 0.688 | 2 | - | ND |
FAT4 | - | - | - | - | 3 | Gain | ND |
FBH1 | - | - | - | - | 1 | Loss | ND |
FBLIM1 | - | - | - | - | 3 | Gain | ND |
FBLN1 | - | - | - | - | 3 | Gain | ND |
FBLN5 | p.P70S | Missense | SNP | 0.299 | 2 | - | ND |
FBXL13 | - | - | - | - | 3 | Gain | ND |
FBXL18 | - | - | - | - | 3 | Gain | ND |
FBXL22 | - | - | - | - | 3 | Gain | ND |
FBXL8 | - | - | - | - | 1 | Loss | ND |
FBXO10 | - | - | - | - | 1 | Loss | ND |
FBXO18 | p.R754W | Missense | SNP | 1.000 | ND | ND | ND |
FBXO2 | - | - | - | - | 3 | Gain | ND |
FBXO22 | - | - | - | - | 3 | Gain | ND |
FBXO24 | - | - | - | - | 3 | Gain | ND |
FBXO28 | - | - | - | - | 3 | Gain | ND |
FBXO31 | - | - | - | - | 1 | Loss | ND |
FBXO38 | p.P273S | Missense | SNP | 0.290 | 2 | - | ND |
FBXO4 | - | - | - | - | 3 | Gain | ND |
FBXO42 | - | - | - | - | 3 | Gain | ND |
FBXO44 | - | - | - | - | 3 | Gain | ND |
FBXO6 | - | - | - | - | 3 | Gain | ND |
FBXO7 | - | - | - | - | 3 | Gain | ND |
FBXO8 | - | - | - | - | 3 | Gain | ND |
FBXW11 | p.R414C | Missense | SNP | 0.231 | 2 | - | ND |
FBXW7 | - | - | - | - | 1 | Loss | ND |
FCAMR | p.P312L | Missense | SNP | 0.356 | 3 | Gain | ND |
FCER1A | - | - | - | - | 3 | Gain | ND |
FCER1G | - | - | - | - | 3 | Gain | ND |
FCGR1B | p.R222K | Missense | SNP | 0.226 | 2 | - | ND |
FCGR2A | - | - | - | - | 3 | Gain | ND |
FCGR2B | - | - | - | - | 3 | Gain | ND |
FCGR2C | - | - | - | - | 3 | Gain | ND |
FCGR3A | - | - | - | - | 3 | Gain | ND |
FCGR3B | - | - | - | - | 3 | Gain | ND |
FCMR | p.R187C | Missense | SNP | 0.147 | 3 | Gain | ND |
FCN3 | - | - | - | - | 3 | Gain | ND |
FCRL1 | - | - | - | - | 3 | Gain | ND |
FCRL2 | - | - | - | - | 3 | Gain | ND |
FCRL3 | - | - | - | - | 3 | Gain | ND |
FCRL4 | - | - | - | - | 3 | Gain | ND |
FCRL5 | - | - | - | - | 3 | Gain | ND |
FCRL6 | - | - | - | - | 3 | Gain | ND |
FCRLA | - | - | - | - | 3 | Gain | ND |
FCRLB | - | - | - | - | 3 | Gain | ND |
FDPS | - | - | - | - | 3 | Gain | ND |
FEM1B | - | - | - | - | 3 | Gain | ND |
FERD3L | - | - | - | - | 3 | Gain | ND |
FES | - | - | - | - | 3 | Gain | ND |
FEZF1 | - | - | - | - | 3 | Gain | ND |
FFAR4 | p.S206W | Missense | SNP | 0.523 | 2 | - | ND |
FGA | - | - | - | - | 1 | Loss | ND |
FGB | - | - | - | - | 1 | Loss | ND |
FGD5 | p.M1169I | Missense | SNP | 0.447 | 2 | - | ND |
FGF10 | - | - | - | - | 3 | Gain | ND |
FGF2 | - | - | - | - | 1 | Loss | ND |
FGF5 | - | - | - | - | 1 | Loss | ND |
FGFR4 | p.P689S | Missense | SNP | 0.370 | 2 | - | ND |
FGG | - | - | - | - | 1 | Loss | ND |
FGL2 | - | - | - | - | 4 | Gain | ND |
FGR | - | - | - | - | 3 | Gain | ND |
FH | - | - | - | - | 3 | Gain | ND |
FHAD1 | - | - | - | - | 3 | Gain | ND |
FHDC1 | - | - | - | - | 1 | Loss | ND |
FHL5 | p.K19N | Missense | SNP | 0.815 | 2 | - | ND |
FHOD1 | - | - | - | - | 1 | Loss | ND |
FIGNL1 | - | - | - | - | 3 | Gain | ND |
FIS1 | - | - | - | - | 3 | Gain | ND |
FKBP14 | - | - | - | - | 3 | Gain | ND |
FKBP6 | - | - | - | - | 3 | Gain | ND |
FKBP9 | - | - | - | - | 3 | Gain | ND |
FLAD1 | - | - | - | - | 3 | Gain | ND |
FLG2 | - | - | - | - | 3 | Gain | ND |
FLNC | - | - | - | - | 3 | Gain | ND |
FLT4 | p.D1061G | Missense | SNP | 0.620 | 2 | - | ND |
FLVCR1 | - | - | - | - | 3 | Gain | ND |
FMN2 | p.P1208S | Missense | SNP | 0.926 | 3 | Gain | ND |
FMO1 | - | - | - | - | 3 | Gain | ND |
FMO2 | - | - | - | - | 3 | Gain | ND |
FMO3 | - | - | - | - | 3 | Gain | ND |
FMO4 | - | - | - | - | 3 | Gain | ND |
FMOD | - | - | - | - | 3 | Gain | ND |
FNDC10 | - | - | - | - | 3 | Gain | ND |
FNDC5 | - | - | - | - | 3 | Gain | ND |
FNDC7 | p.S76F | Missense | SNP | 0.214 | 2 | - | ND |
FNIP2 | - | - | - | - | 3 | Gain | ND |
FO681492.1 | - | - | - | - | 1 | Loss | ND |
FOCAD | - | - | - | - | 0 | Del | ND |
FOLH1 | p.X480_splice | Splice_Site | SNP | 0.784 | 2 | - | ND |
FOXA3 | p.P250S | Missense | SNP | 0.293 | 2 | - | ND |
FOXB1 | - | - | - | - | 3 | Gain | ND |
FOXC2 | - | - | - | - | 1 | Loss | ND |
FOXF1 | - | - | - | - | 1 | Loss | ND |
FOXK1 | - | - | - | - | 3 | Gain | ND |
FOXL1 | - | - | - | - | 1 | Loss | ND |
FOXM1 | p.Y129* | Nonsense | SNP | 0.298 | 2 | - | ND |
FOXP2 | - | - | - | - | 3 | Gain | ND |
FOXRED2 | - | - | - | - | 3 | Gain | ND |
FPR3 | p.P8L | Missense | SNP | 0.363 | 2 | - | ND |
FRAS1 | - | - | - | - | 1 | Loss | ND |
FREM1 | - | - | - | - | 0 | Del | ND |
FREM3 | - | - | - | - | 3 | Gain | ND |
FRG1 | - | - | - | - | 3 | Gain | ND |
FRG2 | - | - | - | - | 3 | Gain | ND |
FRG2B | - | - | - | - | 1 | Loss | ND |
FRMD4A | - | - | - | - | 1 | Loss | ND |
FRMPD1 | - | - | - | - | 1 | Loss | ND |
FRMPD2 | - | - | - | - | 1 | Loss | ND |
FSCB | p.S186L | Missense | SNP | 0.333 | 2 | - | ND |
FSCN1 | - | - | - | - | 3 | Gain | ND |
FSCN2 | p.D285N | Missense | SNP | 0.316 | 2 | - | ND |
FSCN3 | - | - | - | - | 3 | Gain | ND |
FSD2 | - | - | - | - | 3 | Gain | ND |
FSHR | p.G670D | Missense | SNP | 0.415 | 2 | - | ND |
FSIP2 | p.R626K p.E930K | Missense Missense | SNP SNP | 0.483 0.254 | 2 | - | ND |
FST | - | - | - | - | 3 | Gain | ND |
FSTL5 | - | - | - | - | 3 | Gain | ND |
FTO | - | - | - | - | 1 | Loss | ND |
FUCA1 | - | - | - | - | 3 | Gain | ND |
FUK | - | - | - | - | 1 | Loss | ND |
FUOM | - | - | - | - | 1 | Loss | ND |
FURIN | - | - | - | - | 3 | Gain | ND |
FUT3 | p.P61L | Missense | SNP | 0.367 | 2 | - | ND |
FUT9 | p.D339N | Missense | SNP | 0.617 | 2 | - | ND |
FXYD4 | - | - | - | - | 1 | Loss | ND |
FYB1 | - | - | - | - | 3 | Gain | ND |
FZD1 | - | - | - | - | 3 | Gain | ND |
FZD10 | p.P547L | Missense | SNP | 0.340 | 2 | - | ND |
FZD8 | - | - | - | - | 1 | Loss | ND |
FZD9 | - | - | - | - | 3 | Gain | ND |
G0S2 | - | - | - | - | 3 | Gain | ND |
G3BP2 | - | - | - | - | 1 | Loss | ND |
GAB1 | - | - | - | - | 3 | Gain | ND |
GAB4 | p.M140I | Missense | SNP | 0.128 | 3 | Gain | ND |
GABARAPL2 | - | - | - | - | 1 | Loss | ND |
GABRA5 | - | - | - | - | 3 | Gain | ND |
GABRB3 | - | - | - | - | 3 | Gain | ND |
GABRD | - | - | - | - | 3 | Gain | ND |
GABRG2 | p.R419W | Missense | SNP | 0.325 | 2 | - | ND |
GABRG3 | - | - | - | - | 3 | Gain | ND |
GAD2 | p.P401S | Missense | DNP | 0.481 | 1 | Loss | ND |
GAL3ST1 | - | - | - | - | 3 | Gain | ND |
GAL3ST3 | p.P53F | Missense | DNP | 0.299 | 2 | - | ND |
GAL3ST4 | - | - | - | - | 3 | Gain | ND |
GALE | - | - | - | - | 3 | Gain | ND |
GALNS | - | - | - | - | 1 | Loss | ND |
GALNT11 | - | - | - | - | 3 | Gain | ND |
GALNT17 | - | - | - | - | 3 | Gain | ND |
GALNT2 | - | - | - | - | 3 | Gain | ND |
GALNT7 | - | - | - | - | 3 | Gain | ND |
GALNT9 | p.S7F | Missense | DNP | 0.273 | 2 | - | ND |
GALNTL5 | - | - | - | - | 3 | Gain | ND |
GALNTL6 | - | - | - | - | 3 | Gain | ND |
GALR3 | - | - | - | - | 3 | Gain | ND |
GALT | - | - | - | - | 0 | Del | ND |
GAN | - | - | - | - | 1 | Loss | ND |
GAPT | - | - | - | - | 3 | Gain | ND |
GAR1 | - | - | - | - | 1 | Loss | ND |
GARS | - | - | - | - | 3 | Gain | ND |
GAS2L1 | - | - | - | - | 3 | Gain | ND |
GAS8 | - | - | - | - | 1 | Loss | ND |
GATA3 | - | - | - | - | 1 | Loss | ND |
GATAD1 | - | - | - | - | 4 | Gain | ND |
GATAD2B | - | - | - | - | 3 | Gain | ND |
GATB | - | - | - | - | 1 | Loss | ND |
GATSL2 | p.P93L | Missense | SNP | 0.498 | ND | ND | ND |
GBA | - | - | - | - | 3 | Gain | ND |
GBA2 | - | - | - | - | 1 | Loss | ND |
GBA3 | p.D105N p.H201Y | Missense Missense | SNP SNP | 0.194 0.440 | 2 | - | ND |
GBE1 | p.S111L | Missense | SNP | 0.417 | 2 | - | ND |
GBX1 | - | - | - | - | 3 | Gain | ND |
GC | p.D355N | Missense | SNP | 0.542 | 2 | - | ND |
GCAT | - | - | - | - | 3 | Gain | ND |
GCC1 | - | - | - | - | 3 | Gain | ND |
GCK | p.E52K | Missense | SNP | 0.144 | 3 | Gain | ND |
GCM1 | p.E386K p.P282L | Missense Missense | SNP SNP | 0.657 0.312 | 2 | - | ND |
GCN1 | - | - | - | - | 3 | Gain | ND |
GCNT3 | - | - | - | - | 3 | Gain | ND |
GCNT4 | p.S201F | Missense | SNP | 0.577 | 2 | - | ND |
GCOM1 | - | - | - | - | 3 | Gain | ND |
GCSAML | - | - | - | - | 3 | Gain | ND |
GCSAML-AS1 | - | - | - | - | 3 | Gain | ND |
GCSH | - | - | - | - | 1 | Loss | ND |
GDF10 | - | - | - | - | 1 | Loss | ND |
GDF2 | - | - | - | - | 1 | Loss | ND |
GDI2 | - | - | - | - | 1 | Loss | ND |
GDNF | - | - | - | - | 3 | Gain | ND |
GDPGP1 | - | - | - | - | 3 | Gain | ND |
GET4 | - | - | - | - | 3 | Gain | ND |
GFOD2 | - | - | - | - | 1 | Loss | ND |
GFRA3 | p.H63Y | Missense | SNP | 0.230 | 2 | - | ND |
GGA1 | - | - | - | - | 3 | Gain | ND |
GGCT | - | - | - | - | 3 | Gain | ND |
GGPS1 | - | - | - | - | 3 | Gain | ND |
GGT1 | - | - | - | - | 3 | Gain | ND |
GGT2 | - | - | - | - | 3 | Gain | ND |
GGT5 | p.Y573F | Missense | SNP | 0.180 | 3 | Gain | ND |
GGTLC2 | - | - | - | - | 3 | Gain | ND |
GHR | - | - | - | - | 3 | Gain | ND |
GHRHR | - | - | - | - | 3 | Gain | ND |
GIGYF1 | - | - | - | - | 3 | Gain | ND |
GIMAP1 | - | - | - | - | 3 | Gain | ND |
GIMAP1-GIMAP5 | - | - | - | - | 3 | Gain | ND |
GIMAP2 | - | - | - | - | 3 | Gain | ND |
GIMAP4 | p.S100F | Missense | SNP | 0.615 | 3 | Gain | ND |
GIMAP5 | - | - | - | - | 3 | Gain | ND |
GIMAP6 | p.V199M | Missense | SNP | 0.149 | 3 | Gain | ND |
GIMAP7 | - | - | - | - | 3 | Gain | ND |
GIMAP8 | - | - | - | - | 3 | Gain | ND |
GIMD1 | - | - | - | - | 1 | Loss | ND |
GINS2 | - | - | - | - | 1 | Loss | ND |
GINS3 | - | - | - | - | 1 | Loss | ND |
GJA10 | p.D132N | Missense | SNP | 0.294 | 2 | - | ND |
GJA4 | - | - | - | - | 3 | Gain | ND |
GJB3 | - | - | - | - | 3 | Gain | ND |
GJB4 | - | - | - | - | 3 | Gain | ND |
GJB5 | - | - | - | - | 3 | Gain | ND |
GJC2 | - | - | - | - | 3 | Gain | ND |
GJC3 | - | - | - | - | 3 | Gain | ND |
GJD4 | - | - | - | - | 1 | Loss | ND |
GK2 | - | - | - | - | 1 | Loss | ND |
GK3P | - | - | - | - | 3 | Gain | ND |
GLCCI1 | - | - | - | - | 3 | Gain | ND |
GLCE | - | - | - | - | 3 | Gain | ND |
GLDC | - | - | - | - | 0 | Del | ND |
GLG1 | - | - | - | - | 1 | Loss | ND |
GLI2 | p.S388F p.D856N p.P1547L | Missense Missense Missense | SNP SNP SNP | 0.225 0.193 0.462 | 2 | - | ND |
GLI3 | - | - | - | - | 3 | Gain | ND |
GLIPR2 | - | - | - | - | 1 | Loss | ND |
GLIS3 | - | - | - | - | 0 | Del | ND |
GLMP | - | - | - | - | 3 | Gain | ND |
GLOD4 | p.S31F | Missense | SNP | 0.646 | 2 | - | ND |
GLRA3 | - | - | - | - | 3 | Gain | ND |
GLRB | p.W139* | Nonsense | SNP | 0.498 | 3 | Gain | ND |
GLRX2 | - | - | - | - | 3 | Gain | ND |
GLS | p.S482F | Missense | SNP | 0.396 | 2 | - | ND |
GLT8D1 | - | - | - | - | 3 | Gain | ND |
GLUL | - | - | - | - | 3 | Gain | ND |
GMEB1 | - | - | - | - | 3 | Gain | ND |
GNA12 | - | - | - | - | 3 | Gain | ND |
GNAI1 | - | - | - | - | 4 | Gain | ND |
GNAO1 | - | - | - | - | 1 | Loss | ND |
GNAT3 | - | - | - | - | 4 | Gain | ND |
GNAZ | - | - | - | - | 3 | Gain | ND |
GNB1 | - | - | - | - | 3 | Gain | ND |
GNB1L | - | - | - | - | 3 | Gain | ND |
GNB2 | - | - | - | - | 3 | Gain | ND |
GNE | - | - | - | - | 1 | Loss | ND |
GNG11 | - | - | - | - | 4 | Gain | ND |
GNG4 | - | - | - | - | 3 | Gain | ND |
GNGT1 | - | - | - | - | 4 | Gain | ND |
GNL2 | - | - | - | - | 3 | Gain | ND |
GNL3 | - | - | - | - | 3 | Gain | ND |
GNPAT | - | - | - | - | 3 | Gain | ND |
GOLGA4 | p.P101S | Missense | SNP | 0.217 | 2 | - | ND |
GOLGA6B | - | - | - | - | 3 | Gain | ND |
GOLGA6L2 | - | - | - | - | 3 | Gain | ND |
GOLGA6L7 | - | - | - | - | 3 | Gain | ND |
GOLGA8F | - | - | - | - | 3 | Gain | ND |
GOLGA8G | - | - | - | - | 3 | Gain | ND |
GOLGA8R | - | - | - | - | 3 | Gain | ND |
GOLGA8S | - | - | - | - | 3 | Gain | ND |
GOLGB1 | p.D21G | Missense | SNP | 0.477 | 2 | - | ND |
GOLPH3 | - | - | - | - | 3 | Gain | ND |
GOLT1A | - | - | - | - | 3 | Gain | ND |
GON4L | - | - | - | - | 3 | Gain | ND |
GORAB | - | - | - | - | 3 | Gain | ND |
GOT2 | - | - | - | - | 1 | Loss | ND |
GP1BB | - | - | - | - | 3 | Gain | ND |
GP2 | p.R112Q | Missense | SNP | 0.107 | 2 | - | ND |
GPA33 | - | - | - | - | 3 | Gain | ND |
GPAT3 | - | - | - | - | 1 | Loss | ND |
GPATCH2 | - | - | - | - | 3 | Gain | ND |
GPATCH3 | p.D291N | Missense | SNP | 0.260 | 3 | Gain | ND |
GPATCH4 | - | - | - | - | 3 | Gain | ND |
GPBP1 | - | - | - | - | 3 | Gain | ND |
GPC2 | - | - | - | - | 3 | Gain | ND |
GPC5 | p.G506R | Missense | SNP | 0.266 | 2 | - | ND |
GPER1 | - | - | - | - | 3 | Gain | ND |
GPLD1 | p.M126I | Missense | SNP | 0.329 | 2 | - | ND |
GPM6A | p.M77I | Missense | SNP | 0.476 | 3 | Gain | ND |
GPN2 | - | - | - | - | 3 | Gain | ND |
GPNMB | - | - | - | - | 3 | Gain | ND |
GPR137B | - | - | - | - | 3 | Gain | ND |
GPR141 | p.G156E p.E267K | Missense Missense | SNP SNP | 0.513 0.141 | 3 | Gain | ND |
GPR146 | - | - | - | - | 3 | Gain | ND |
GPR153 | - | - | - | - | 3 | Gain | ND |
GPR157 | - | - | - | - | 3 | Gain | ND |
GPR158 | - | - | - | - | 1 | Loss | ND |
GPR161 | - | - | - | - | 3 | Gain | ND |
GPR179 | p.G1765E | Missense | SNP | 0.336 | 2 | - | ND |
GPR22 | - | - | - | - | 3 | Gain | ND |
GPR25 | - | - | - | - | 3 | Gain | ND |
GPR3 | - | - | - | - | 3 | Gain | ND |
GPR37 | - | - | - | - | 3 | Gain | ND |
GPR37L1 | - | - | - | - | 3 | Gain | ND |
GPR52 | p.V208D | Missense | SNP | 0.363 | 4 | Gain | ND |
GPR65 | p.G50E | Missense | SNP | 0.298 | 2 | - | ND |
GPR83 | p.A325V | Missense | SNP | 0.771 | 2 | - | ND |
GPR85 | - | - | - | - | 3 | Gain | ND |
GPRASP2 | p.S485F | Missense | SNP | 1.000 | ND | ND | ND |
GPRC6A | p.T710N | Missense | SNP | 0.325 | 2 | - | ND |
GPRIN2 | - | - | - | - | 1 | Loss | ND |
GPRIN3 | - | - | - | - | 1 | Loss | ND |
GPT | p.E305K | Missense | DNP | 0.490 | 2 | - | ND |
GPT2 | - | - | - | - | 1 | Loss | ND |
GPX8 | - | - | - | - | 3 | Gain | ND |
GRAMD2A | - | - | - | - | 3 | Gain | ND |
GRAMD4 | p.S28L p.M205I | Missense Missense | SNP SNP | 0.198 0.512 | 3 | Gain | ND |
GRAP2 | - | - | - | - | 3 | Gain | ND |
GRB10 | - | - | - | - | 3 | Gain | ND |
GREM2 | - | - | - | - | 3 | Gain | ND |
GRHL3 | - | - | - | - | 3 | Gain | ND |
GRHPR | - | - | - | - | 1 | Loss | ND |
GRIA2 | - | - | - | - | 3 | Gain | ND |
GRIA4 | p.W16* | Nonsense | SNP | 0.375 | 2 | - | ND |
GRID2 | - | - | - | - | 1 | Loss | ND |
GRID2IP | - | - | - | - | 3 | Gain | ND |
GRIFIN | - | - | - | - | 3 | Gain | ND |
GRIK2 | p.P338S p.E808K | Missense Missense | SNP SNP | 0.306 0.372 | 2 | - | ND |
GRIK3 | - | - | - | - | 3 | Gain | ND |
GRIN2C | p.E329K | Missense | SNP | 0.320 | 2 | - | ND |
GRIN3A | p.P882L p.Y432N p.E340K | Missense Missense Missense | SNP SNP SNP | 1.000 1.000 0.664 | 2 | - | ND |
GRIN3B | p.W513* | Nonsense | SNP | 0.497 | 2 | - | ND |
GRIP2 | p.T311I | Missense | SNP | 0.566 | 2 | - | ND |
GRK3 | - | - | - | - | 3 | Gain | ND |
GRK4 | - | - | - | - | 3 | Gain | ND |
GRM3 | - | - | - | - | 4 | Gain | ND |
GRM4 | p.R61K | Missense | SNP | 0.325 | 2 | - | ND |
GRM5 | p.P83S | Missense | SNP | 0.277 | 2 | - | ND |
GRM8 | p.P719L | Missense | SNP | 0.455 | 3 | Gain | ND |
GRPR | p.A153V | Missense | SNP | 0.590 | ND | ND | ND |
GSAP | - | - | - | - | 4 | Gain | ND |
GSC2 | - | - | - | - | 3 | Gain | ND |
GSDME | - | - | - | - | 3 | Gain | ND |
GSE1 | - | - | - | - | 1 | Loss | ND |
GSTA1 | p.D42E | Missense | SNP | 0.375 | 2 | - | ND |
GSTCD | - | - | - | - | 1 | Loss | ND |
GSTM3 | p.P206L | Missense | SNP | 0.331 | 2 | - | ND |
GSTT2 | - | - | - | - | 3 | Gain | ND |
GSTT2B | - | - | - | - | 3 | Gain | ND |
GSTT4 | - | - | - | - | 3 | Gain | ND |
GTDC1 | p.P270S | Missense | SNP | 0.201 | 2 | - | ND |
GTF2A2 | - | - | - | - | 3 | Gain | ND |
GTF2I | - | - | - | - | 4 | Gain | ND |
GTF2IRD1 | - | - | - | - | 4 | Gain | ND |
GTF2IRD2 | - | - | - | - | 4 | Gain | ND |
GTF2IRD2B | - | - | - | - | 3 | Gain | ND |
GTPBP1 | - | - | - | - | 3 | Gain | ND |
GTPBP10 | - | - | - | - | 3 | Gain | ND |
GTPBP4 | - | - | - | - | 1 | Loss | ND |
GTPBP8 | p.L20P | Missense | SNP | 0.464 | 2 | - | ND |
GTSE1 | p.P280S | Missense | SNP | 0.505 | 3 | Gain | ND |
GUCD1 | - | - | - | - | 3 | Gain | ND |
GUCY1A1 | - | - | - | - | 3 | Gain | ND |
GUCY1B1 | - | - | - | - | 3 | Gain | ND |
GUCY1B3 | p.L38F | Missense | SNP | 0.533 | ND | ND | ND |
GUCY2C | p.D179N | Missense | SNP | 0.250 | 2 | - | ND |
GUK1 | - | - | - | - | 3 | Gain | ND |
GUSB | - | - | - | - | 3 | Gain | ND |
GYPA | - | - | - | - | 3 | Gain | ND |
GYPB | - | - | - | - | 3 | Gain | ND |
GYPE | - | - | - | - | 3 | Gain | ND |
GZMA | - | - | - | - | 3 | Gain | ND |
GZMK | - | - | - | - | 3 | Gain | ND |
H1F0 | - | - | - | - | 3 | Gain | ND |
H2AFV | - | - | - | - | 3 | Gain | ND |
H2AFZ | - | - | - | - | 1 | Loss | ND |
H3F3A | - | - | - | - | 3 | Gain | ND |
H6PD | - | - | - | - | 3 | Gain | ND |
HACD1 | - | - | - | - | 1 | Loss | ND |
HACD3 | - | - | - | - | 3 | Gain | ND |
HACD4 | - | - | - | - | 0 | Del | ND |
HADH | - | - | - | - | 1 | Loss | ND |
HAND2 | - | - | - | - | 3 | Gain | ND |
HAPLN2 | - | - | - | - | 3 | Gain | ND |
HAPLN3 | - | - | - | - | 3 | Gain | ND |
HAS1 | p.A47V | Missense | SNP | 0.253 | 2 | - | ND |
HAS3 | - | - | - | - | 1 | Loss | ND |
HAUS6 | - | - | - | - | 0 | Del | ND |
HAUS8 | p.P248L | Missense | SNP | 0.528 | 2 | - | ND |
HAX1 | - | - | - | - | 3 | Gain | ND |
HBP1 | - | - | - | - | 3 | Gain | ND |
HCFC1 | p.R847C p.L846P | Missense Missense | SNP SNP | 1.000 1.000 | ND | ND | ND |
HCK | p.E221K | Missense | SNP | 0.416 | 2 | - | ND |
HCN1 | - | - | - | - | 3 | Gain | ND |
HCN3 | - | - | - | - | 3 | Gain | ND |
HCN4 | - | - | - | - | 3 | Gain | ND |
HCRTR1 | - | - | - | - | 3 | Gain | ND |
HDAC1 | - | - | - | - | 3 | Gain | ND |
HDAC7 | p.P401F | Missense | DNP | 0.331 | 2 | - | ND |
HDAC9 | - | - | - | - | 3 | Gain | ND |
HDDC3 | - | - | - | - | 3 | Gain | ND |
HDGF | - | - | - | - | 3 | Gain | ND |
HDGFL3 | - | - | - | - | 3 | Gain | ND |
HDHD5 | - | - | - | - | 3 | Gain | ND |
HEATR1 | - | - | - | - | 3 | Gain | ND |
HEATR3 | p.A275V | Missense | SNP | 1.000 | 1 | Loss | ND |
HECW1 | - | - | - | - | 3 | Gain | ND |
HELQ | - | - | - | - | 1 | Loss | ND |
HELT | - | - | - | - | 3 | Gain | ND |
HELZ | p.D709E | Missense | SNP | 0.774 | 2 | - | ND |
HEPACAM | p.T78I | Missense | SNP | 0.728 | 2 | - | ND |
HEPACAM2 | - | - | - | - | 4 | Gain | ND |
HERC1 | p.P3669S | Missense | SNP | 0.132 | 3 | Gain | ND |
HERC2 | - | - | - | - | 3 | Gain | ND |
HERC3 | - | - | - | - | 1 | Loss | ND |
HERC5 | - | - | - | - | 1 | Loss | ND |
HERC6 | - | - | - | - | 1 | Loss | ND |
HERPUD1 | - | - | - | - | 1 | Loss | ND |
HERPUD2 | - | - | - | - | 3 | Gain | ND |
HES2 | - | - | - | - | 3 | Gain | ND |
HES3 | - | - | - | - | 3 | Gain | ND |
HES4 | - | - | - | - | 3 | Gain | ND |
HES5 | - | - | - | - | 3 | Gain | ND |
HEXA | - | - | - | - | 3 | Gain | ND |
HFM1 | p.P1251S | Missense | SNP | 0.688 | 2 | - | ND |
HGF | - | - | - | - | 4 | Gain | ND |
HHAT | - | - | - | - | 3 | Gain | ND |
HHIP | - | - | - | - | 3 | Gain | ND |
HHIPL2 | - | - | - | - | 3 | Gain | ND |
HIBADH | - | - | - | - | 3 | Gain | ND |
HIC2 | - | - | - | - | 3 | Gain | ND |
HIF1AN | p.A329V | Missense | SNP | 1.000 | 2 | - | ND |
HIGD2B | - | - | - | - | 3 | Gain | ND |
HILPDA | - | - | - | - | 3 | Gain | ND |
HINFP | p.S139F | Missense | SNP | 0.778 | 2 | - | ND |
HINT2 | - | - | - | - | 1 | Loss | ND |
HIP1 | - | - | - | - | 3 | Gain | ND |
HIP1R | p.E795K | Missense | SNP | 0.240 | 5 | Amp | ND |
HIRA | - | - | - | - | 3 | Gain | ND |
HIST3H2A | - | - | - | - | 3 | Gain | ND |
HIST3H2BB | - | - | - | - | 3 | Gain | ND |
HIST3H3 | - | - | - | - | 3 | Gain | ND |
HIVEP2 | p.S1328F | Missense | SNP | 0.648 | 2 | - | ND |
HLCS | p.P132S | Missense | SNP | 0.305 | 2 | - | ND |
HLX | - | - | - | - | 3 | Gain | ND |
HMCN1 | p.T2545I | Missense | SNP | 0.200 | 3 | Gain | ND |
HMG20A | - | - | - | - | 3 | Gain | ND |
HMGB2 | - | - | - | - | 3 | Gain | ND |
HMGB4 | - | - | - | - | 3 | Gain | ND |
HMGCL | - | - | - | - | 3 | Gain | ND |
HMGCR | p.K401N | Missense | SNP | 0.377 | 2 | - | ND |
HMGCS1 | - | - | - | - | 3 | Gain | ND |
HMGN2 | - | - | - | - | 3 | Gain | ND |
HMGXB4 | p.P379S | Missense | SNP | 0.250 | 3 | Gain | ND |
HMOX1 | - | - | - | - | 3 | Gain | ND |
HNF4G | p.E360K | Missense | SNP | 0.480 | 2 | - | ND |
HNRNPA2B1 | - | - | - | - | 3 | Gain | ND |
HNRNPCL1 | - | - | - | - | 3 | Gain | ND |
HNRNPCL2 | - | - | - | - | 3 | Gain | ND |
HNRNPCL3 | - | - | - | - | 3 | Gain | ND |
HNRNPCL4 | - | - | - | - | 3 | Gain | ND |
HNRNPD | - | - | - | - | 1 | Loss | ND |
HNRNPDL | - | - | - | - | 1 | Loss | ND |
HNRNPF | - | - | - | - | 1 | Loss | ND |
HNRNPR | - | - | - | - | 3 | Gain | ND |
HNRNPU | - | - | - | - | 3 | Gain | ND |
HOMER2 | - | - | - | - | 3 | Gain | ND |
HOMEZ | - | - | - | - | 1 | Loss | ND |
HORMAD2 | - | - | - | - | 3 | Gain | ND |
HOXA1 | - | - | - | - | 3 | Gain | ND |
HOXA10 | - | - | - | - | 3 | Gain | ND |
HOXA11 | - | - | - | - | 3 | Gain | ND |
HOXA13 | - | - | - | - | 3 | Gain | ND |
HOXA2 | - | - | - | - | 3 | Gain | ND |
HOXA3 | - | - | - | - | 3 | Gain | ND |
HOXA4 | - | - | - | - | 3 | Gain | ND |
HOXA5 | - | - | - | - | 3 | Gain | ND |
HOXA6 | - | - | - | - | 3 | Gain | ND |
HOXA7 | - | - | - | - | 3 | Gain | ND |
HOXA9 | - | - | - | - | 3 | Gain | ND |
HOXB1 | p.P64S | Missense | SNP | 0.679 | 2 | - | ND |
HP | - | - | - | - | 1 | Loss | ND |
HP1BP3 | - | - | - | - | 3 | Gain | ND |
HPCA | - | - | - | - | 3 | Gain | ND |
HPF1 | - | - | - | - | 3 | Gain | ND |
HPGD | - | - | - | - | 3 | Gain | ND |
HPGDS | - | - | - | - | 1 | Loss | ND |
HPR | - | - | - | - | 1 | Loss | ND |
HPRT1 | p.D13E | Missense | SNP | 1.000 | ND | ND | ND |
HPS4 | - | - | - | - | 3 | Gain | ND |
HPSE | - | - | - | - | 1 | Loss | ND |
HRC | p.E188K | Missense | SNP | 0.500 | 2 | - | ND |
HRCT1 | - | - | - | - | 1 | Loss | ND |
HRH3 | p.E395K | Missense | SNP | 0.465 | 2 | - | ND |
HS6ST2 | p.S109F | Missense | DNP | 0.448 | ND | ND | ND |
HSBP1 | - | - | - | - | 1 | Loss | ND |
HSCB | - | - | - | - | 3 | Gain | ND |
HSD11B1 | - | - | - | - | 3 | Gain | ND |
HSD11B2 | - | - | - | - | 1 | Loss | ND |
HSD17B11 | - | - | - | - | 1 | Loss | ND |
HSD17B13 | - | - | - | - | 1 | Loss | ND |
HSD17B2 | - | - | - | - | 1 | Loss | ND |
HSD17B7 | - | - | - | - | 3 | Gain | ND |
HSDL1 | - | - | - | - | 1 | Loss | ND |
HSF4 | - | - | - | - | 1 | Loss | ND |
HSH2D | p.P289L | Missense | SNP | 0.474 | 2 | - | ND |
HSPA12A | p.S195F | Missense | SNP | 0.651 | 2 | - | ND |
HSPA14 | - | - | - | - | 1 | Loss | ND |
HSPA4L | - | - | - | - | 3 | Gain | ND |
HSPA6 | - | - | - | - | 3 | Gain | ND |
HSPB1 | - | - | - | - | 3 | Gain | ND |
HSPB3 | - | - | - | - | 3 | Gain | ND |
HSPB7 | - | - | - | - | 3 | Gain | ND |
HSPG2 | - | - | - | - | 3 | Gain | ND |
HTR1D | - | - | - | - | 3 | Gain | ND |
HTR3C | p.G368R | Missense | SNP | 0.127 | 2 | - | ND |
HTR3E | p.S12F p.G384E | Missense Missense | SNP SNP | 0.191 0.602 | 2 | - | ND |
HTR4 | p.T385P | Missense | SNP | 0.309 | 2 | - | ND |
HTR5A | p.T274R | Missense | SNP | 0.351 | 3 | Gain | ND |
HTR6 | - | - | - | - | 3 | Gain | ND |
HTRA1 | p.S441F | Missense | SNP | 1.000 | 2 | - | ND |
HTT | - | - | - | - | 3 | Gain | ND |
HUS1 | - | - | - | - | 3 | Gain | ND |
HYAL4 | - | - | - | - | 3 | Gain | ND |
HYDIN | p.R375Q | Missense | SNP | 0.961 | 1 | Loss | ND |
HYKK | - | - | - | - | 3 | Gain | ND |
IAPP | p.S52F | Missense | SNP | 0.339 | 2 | - | ND |
IARS2 | - | - | - | - | 3 | Gain | ND |
IBA57 | - | - | - | - | 3 | Gain | ND |
IBSP | - | - | - | - | 1 | Loss | ND |
ICA1 | p.P9S | Missense | SNP | 0.340 | 3 | Gain | ND |
ICE1 | p.S949F | Missense | SNP | 0.268 | 2 | - | ND |
ICE2 | - | - | - | - | 3 | Gain | ND |
ICMT | - | - | - | - | 3 | Gain | ND |
ID3 | - | - | - | - | 3 | Gain | ND |
IDH2 | - | - | - | - | 3 | Gain | ND |
IDH3A | - | - | - | - | 3 | Gain | ND |
IDH3B | p.P261L | Missense | SNP | 0.298 | 2 | - | ND |
IDI1 | - | - | - | - | 1 | Loss | ND |
IDI2 | - | - | - | - | 1 | Loss | ND |
IER5 | - | - | - | - | 3 | Gain | ND |
IFFO2 | - | - | - | - | 3 | Gain | ND |
IFI16 | - | - | - | - | 3 | Gain | ND |
IFI6 | - | - | - | - | 3 | Gain | ND |
IFIT3 | p.H425Y | Missense | SNP | 0.587 | 2 | - | ND |
IFNA1 | - | - | - | - | 0 | Del | ND |
IFNA10 | - | - | - | - | 0 | Del | ND |
IFNA13 | - | - | - | - | 0 | Del | ND |
IFNA14 | - | - | - | - | 0 | Del | ND |
IFNA16 | - | - | - | - | 0 | Del | ND |
IFNA17 | - | - | - | - | 0 | Del | ND |
IFNA2 | - | - | - | - | 0 | Del | ND |
IFNA21 | - | - | - | - | 0 | Del | ND |
IFNA4 | - | - | - | - | 0 | Del | ND |
IFNA5 | - | - | - | - | 0 | Del | ND |
IFNA6 | - | - | - | - | 0 | Del | ND |
IFNA7 | - | - | - | - | 0 | Del | ND |
IFNA8 | - | - | - | - | 0 | Del | ND |
IFNB1 | - | - | - | - | 0 | Del | ND |
IFNE | - | - | - | - | 0 | Del | ND |
IFNK | - | - | - | - | 0 | Del | ND |
IFNLR1 | - | - | - | - | 3 | Gain | ND |
IFNW1 | - | - | - | - | 0 | Del | ND |
IFRD1 | - | - | - | - | 3 | Gain | ND |
IFT22 | p.E98K | Missense | SNP | 0.663 | 3 | Gain | ND |
IFT27 | - | - | - | - | 3 | Gain | ND |
IFT74 | - | - | - | - | 0 | Del | ND |
IGDCC3 | - | - | - | - | 3 | Gain | ND |
IGDCC4 | - | - | - | - | 3 | Gain | ND |
IGF1R | - | - | - | - | 3 | Gain | ND |
IGF2BP1 | p.R452C | Missense | SNP | 0.644 | 2 | - | ND |
IGF2BP3 | - | - | - | - | 3 | Gain | ND |
IGFBP1 | - | - | - | - | 3 | Gain | ND |
IGFBP3 | - | - | - | - | 3 | Gain | ND |
IGFBPL1 | - | - | - | - | 1 | Loss | ND |
IGFN1 | - | - | - | - | 3 | Gain | ND |
IGHA1 | p.A133T | Missense | SNP | 0.707 | ND | ND | ND |
IGHV3-11 | p.M102L | Missense | SNP | 0.288 | ND | ND | ND |
IGLL1 | - | - | - | - | 3 | Gain | ND |
IGLL5 | - | - | - | - | 3 | Gain | ND |
IGLV10-54 | - | - | - | - | 3 | Gain | ND |
IGSF21 | - | - | - | - | 3 | Gain | ND |
IGSF8 | - | - | - | - | 3 | Gain | ND |
IGSF9 | p.V639I | Missense | SNP | 0.806 | 3 | Gain | ND |
IKBKE | - | - | - | - | 3 | Gain | ND |
IKZF1 | - | - | - | - | 3 | Gain | ND |
IL10 | - | - | - | - | 3 | Gain | ND |
IL11RA | - | - | - | - | 0 | Del | ND |
IL12B | p.E221K | Missense | SNP | 0.330 | 2 | - | ND |
IL15 | - | - | - | - | 3 | Gain | ND |
IL15RA | - | - | - | - | 1 | Loss | ND |
IL16 | - | - | - | - | 3 | Gain | ND |
IL17C | - | - | - | - | 1 | Loss | ND |
IL17RA | - | - | - | - | 3 | Gain | ND |
IL17RC | p.H160Y | Missense | SNP | 0.460 | 2 | - | ND |
IL19 | - | - | - | - | 3 | Gain | ND |
IL2 | - | - | - | - | 1 | Loss | ND |
IL20 | - | - | - | - | 3 | Gain | ND |
IL21 | - | - | - | - | 1 | Loss | ND |
IL22RA1 | - | - | - | - | 3 | Gain | ND |
IL24 | - | - | - | - | 3 | Gain | ND |
IL25 | p.V27I | Missense | SNP | 0.618 | 1 | Loss | ND |
IL2RA | - | - | - | - | 1 | Loss | ND |
IL2RB | - | - | - | - | 3 | Gain | ND |
IL31RA | - | - | - | - | 3 | Gain | ND |
IL33 | - | - | - | - | 0 | Del | ND |
IL34 | - | - | - | - | 1 | Loss | ND |
IL6 | - | - | - | - | 3 | Gain | ND |
IL6R | - | - | - | - | 3 | Gain | ND |
IL6ST | - | - | - | - | 3 | Gain | ND |
ILDR1 | p.S478F | Missense | SNP | 0.496 | 2 | - | ND |
ILDR2 | - | - | - | - | 3 | Gain | ND |
ILF2 | - | - | - | - | 3 | Gain | ND |
IMMP2L | - | - | - | - | 3 | Gain | ND |
IMP3 | - | - | - | - | 3 | Gain | ND |
IMPDH1 | p.S537F | Missense | SNP | 0.651 | 3 | Gain | ND |
INAVA | - | - | - | - | 3 | Gain | ND |
ING2 | - | - | - | - | 3 | Gain | ND |
ING3 | - | - | - | - | 3 | Gain | ND |
INHBA | - | - | - | - | 3 | Gain | ND |
INMT | - | - | - | - | 3 | Gain | ND |
INMT-MINDY4 | - | - | - | - | 3 | Gain | ND |
INPP4B | - | - | - | - | 3 | Gain | ND |
INPP5A | - | - | - | - | 1 | Loss | ND |
INPP5D | p.S263P | Missense | SNP | 0.240 | 2 | - | ND |
INPP5J | - | - | - | - | 3 | Gain | ND |
INSIG1 | - | - | - | - | 3 | Gain | ND |
INSL4 | - | - | - | - | 0 | Del | ND |
INSL6 | - | - | - | - | 0 | Del | ND |
INSRR | p.E1030K | Missense | SNP | 0.870 | 3 | Gain | ND |
INSYN1 | - | - | - | - | 3 | Gain | ND |
INTS1 | - | - | - | - | 3 | Gain | ND |
INTS11 | - | - | - | - | 3 | Gain | ND |
INTS12 | - | - | - | - | 1 | Loss | ND |
INTS14 | - | - | - | - | 3 | Gain | ND |
INTS3 | - | - | - | - | 3 | Gain | ND |
INTS4 | p.P107L | Missense | SNP | 0.713 | 2 | - | ND |
INTS7 | - | - | - | - | 3 | Gain | ND |
INTU | - | - | - | - | 3 | Gain | ND |
IPMK | - | - | - | - | 1 | Loss | ND |
IPO9 | - | - | - | - | 3 | Gain | ND |
IPP | p.G472E | Missense | SNP | 0.196 | 2 | - | ND |
IQCC | - | - | - | - | 3 | Gain | ND |
IQCE | - | - | - | - | 3 | Gain | ND |
IQCH | - | - | - | - | 3 | Gain | ND |
IQGAP1 | - | - | - | - | 3 | Gain | ND |
IQGAP3 | - | - | - | - | 3 | Gain | ND |
IQUB | - | - | - | - | 3 | Gain | ND |
IRAK3 | p.H166Y | Missense | SNP | 0.605 | 2 | - | ND |
IREB2 | - | - | - | - | 3 | Gain | ND |
IRF2 | - | - | - | - | 3 | Gain | ND |
IRF2BP2 | - | - | - | - | 3 | Gain | ND |
IRF5 | - | - | - | - | 3 | Gain | ND |
IRF6 | - | - | - | - | 3 | Gain | ND |
IRF8 | - | - | - | - | 1 | Loss | ND |
IRX3 | - | - | - | - | 1 | Loss | ND |
IRX5 | - | - | - | - | 1 | Loss | ND |
IRX6 | - | - | - | - | 1 | Loss | ND |
ISG15 | - | - | - | - | 3 | Gain | ND |
ISG20 | - | - | - | - | 3 | Gain | ND |
ISG20L2 | - | - | - | - | 3 | Gain | ND |
ISL1 | - | - | - | - | 3 | Gain | ND |
ISL2 | - | - | - | - | 3 | Gain | ND |
ISLR | - | - | - | - | 3 | Gain | ND |
ISLR2 | - | - | - | - | 3 | Gain | ND |
ISPD | - | - | - | - | 3 | Gain | ND |
IST1 | - | - | - | - | 1 | Loss | ND |
ISX | - | - | - | - | 3 | Gain | ND |
ITFG1 | - | - | - | - | 1 | Loss | ND |
ITGA1 | - | - | - | - | 3 | Gain | ND |
ITGA11 | - | - | - | - | 3 | Gain | ND |
ITGA2 | - | - | - | - | 3 | Gain | ND |
ITGA2B | p.X1021_splice | Splice_Site | SNP | 0.287 | 2 | - | ND |
ITGA4 | p.R261W p.G539E | Missense Missense | SNP SNP | 0.592 0.493 | 2 | - | ND |
ITGA5 | p.S785Y | Missense | SNP | 0.648 | 2 | - | ND |
ITGA7 | p.S442N | Missense | SNP | 0.604 | 2 | - | ND |
ITGA8 | - | - | - | - | 1 | Loss | ND |
ITGB1 | - | - | - | - | 1 | Loss | ND |
ITGB6 | p.G26V | Missense | SNP | 0.543 | 2 | - | ND |
ITGB8 | - | - | - | - | 3 | Gain | ND |
ITGBL1 | p.G203E | Missense | SNP | 0.352 | 2 | - | ND |
ITIH2 | p.L13F | Missense | SNP | 0.586 | 1 | Loss | ND |
ITIH5 | - | - | - | - | 1 | Loss | ND |
ITK | p.G452R | Missense | SNP | 0.317 | 2 | - | ND |
ITLN1 | - | - | - | - | 3 | Gain | ND |
ITLN2 | - | - | - | - | 3 | Gain | ND |
ITPKB | - | - | - | - | 3 | Gain | ND |
ITPRID1 | - | - | - | - | 3 | Gain | ND |
ITSN2 | p.P151L | Missense | SNP | 0.179 | 2 | - | ND |
IVNS1ABP | - | - | - | - | 3 | Gain | ND |
IZUMO3 | - | - | - | - | 0 | Del | ND |
JADE1 | - | - | - | - | 3 | Gain | ND |
JADE2 | p.V330G | Missense | SNP | 0.353 | 2 | - | ND |
JAK2 | - | - | - | - | 0 | Del | ND |
JAKMIP3 | - | - | - | - | 1 | Loss | ND |
JARID2 | p.P687L p.P766L | Missense Missense | SNP SNP | 0.669 0.307 | 2 | - | ND |
JAZF1 | - | - | - | - | 3 | Gain | ND |
JCAD | - | - | - | - | 1 | Loss | ND |
JMJD4 | - | - | - | - | 3 | Gain | ND |
JOSD1 | - | - | - | - | 3 | Gain | ND |
JPH3 | - | - | - | - | 1 | Loss | ND |
JPH4 | - | - | - | - | 1 | Loss | ND |
JTB | - | - | - | - | 3 | Gain | ND |
KALRN | p.P1649S | Missense | SNP | 0.581 | 2 | - | ND |
KANK1 | - | - | - | - | 0 | Del | ND |
KARS | - | - | - | - | 1 | Loss | ND |
KAT14 | p.Q275E | Missense | SNP | 0.502 | 2 | - | ND |
KAT6B | p.S1867F | Missense | SNP | 0.595 | 2 | - | ND |
KATNB1 | - | - | - | - | 1 | Loss | ND |
KAZN | p.V391G | Missense | SNP | 0.582 | 3 | Gain | ND |
KBTBD13 | - | - | - | - | 3 | Gain | ND |
KBTBD2 | - | - | - | - | 3 | Gain | ND |
KCNA1 | p.S390F | Missense | SNP | 0.357 | 2 | - | ND |
KCNA6 | p.G435E | Missense | SNP | 0.404 | 2 | - | ND |
KCNA7 | p.P366L | Missense | SNP | 0.501 | 2 | - | ND |
KCNAB2 | - | - | - | - | 3 | Gain | ND |
KCNB1 | p.G379E p.E130K | Missense Missense | SNP SNP | 0.195 0.267 | 2 | - | ND |
KCNC3 | p.V374M | Missense | SNP | 0.475 | 2 | - | ND |
KCND1 | p.E142K | Missense | SNP | 0.490 | ND | ND | ND |
KCND2 | - | - | - | - | 3 | Gain | ND |
KCND3 | p.E72K | Missense | DNP | 0.724 | 2 | - | ND |
KCNF1 | p.E323K | Missense | SNP | 0.452 | 2 | - | ND |
KCNG4 | - | - | - | - | 1 | Loss | ND |
KCNH1 | p.S94F | Missense | SNP | 0.779 | 3 | Gain | ND |
KCNH2 | - | - | - | - | 3 | Gain | ND |
KCNH5 | p.P953S p.P701S p.S594F p.G434E p.S142L | Missense Missense Missense Missense Missense | SNP SNP SNP SNP SNP | 0.306 0.628 0.564 0.284 0.390 | 2 | - | ND |
KCNH8 | p.S1031L | Missense | SNP | 0.252 | 2 | - | ND |
KCNJ10 | - | - | - | - | 3 | Gain | ND |
KCNJ4 | - | - | - | - | 3 | Gain | ND |
KCNJ9 | - | - | - | - | 3 | Gain | ND |
KCNK1 | - | - | - | - | 3 | Gain | ND |
KCNK2 | - | - | - | - | 3 | Gain | ND |
KCNMB2 | p.M206I | Missense | SNP | 0.510 | 2 | - | ND |
KCNN2 | p.P525S | Missense | SNP | 0.364 | 2 | - | ND |
KCNN3 | - | - | - | - | 3 | Gain | ND |
KCNT2 | - | - | - | - | 3 | Gain | ND |
KCNV2 | - | - | - | - | 0 | Del | ND |
KCP | - | - | - | - | 3 | Gain | ND |
KCTD17 | - | - | - | - | 3 | Gain | ND |
KCTD19 | - | - | - | - | 1 | Loss | ND |
KCTD3 | - | - | - | - | 3 | Gain | ND |
KCTD7 | - | - | - | - | 3 | Gain | ND |
KDELR2 | - | - | - | - | 3 | Gain | ND |
KDELR3 | - | - | - | - | 3 | Gain | ND |
KDF1 | - | - | - | - | 3 | Gain | ND |
KDM1A | - | - | - | - | 3 | Gain | ND |
KDM4C | - | - | - | - | 0 | Del | ND |
KDM5B | - | - | - | - | 3 | Gain | ND |
KDR | p.S1100F p.R1032Q | Missense Missense | SNP SNP | 0.573 0.203 | 2 | - | ND |
KEL | p.S318F p.S277F | Missense Missense | SNP SNP | 0.500 0.141 | ND | ND | ND |
KHDC1L | p.D92N | Missense | SNP | 0.311 | 2 | - | ND |
KHDC4 | - | - | - | - | 3 | Gain | ND |
KHDRBS1 | - | - | - | - | 3 | Gain | ND |
KHDRBS2 | p.E93K | Missense | SNP | 0.282 | 2 | - | ND |
KIAA0040 | - | - | - | - | 3 | Gain | ND |
KIAA0319 | p.R887Q | Missense | SNP | 0.500 | 2 | - | ND |
KIAA0319L | - | - | - | - | 3 | Gain | ND |
KIAA0355 | p.R874Q | Missense | SNP | 0.571 | 2 | - | ND |
KIAA0408 | p.S469L | Missense | SNP | 0.276 | 2 | - | ND |
KIAA0513 | p.H316Y | Missense | SNP | 0.587 | 1 | Loss | ND |
KIAA0895 | - | - | - | - | 3 | Gain | ND |
KIAA0895L | - | - | - | - | 1 | Loss | ND |
KIAA1024 | - | - | - | - | 3 | Gain | ND |
KIAA1107 | p.L872K | Missense | DNP | 0.746 | ND | ND | ND |
KIAA1109 | - | - | - | - | 1 | Loss | ND |
KIAA1217 | - | - | - | - | 1 | Loss | ND |
KIAA1324L | - | - | - | - | 4 | Gain | ND |
KIAA1522 | - | - | - | - | 3 | Gain | ND |
KIAA1549 | p.A891V | Missense | SNP | 0.302 | ND | ND | ND |
KIAA1551 | p.E842K p.P917S | Missense Missense | SNP SNP | 0.270 0.380 | 2 | - | ND |
KIAA1614 | - | - | - | - | 3 | Gain | ND |
KIAA1671 | - | - | - | - | 3 | Gain | ND |
KIAA2013 | - | - | - | - | 3 | Gain | ND |
KIAA2022 | p.P683S p.E518K | Missense Missense | SNP SNP | 0.484 0.991 | ND | ND | ND |
KIAA2026 | - | - | - | - | 0 | Del | ND |
KIF14 | - | - | - | - | 3 | Gain | ND |
KIF15 | p.S327F | Missense | SNP | 0.512 | 2 | - | ND |
KIF17 | p.E459K | Missense | SNP | 0.436 | 3 | Gain | ND |
KIF1B | - | - | - | - | 3 | Gain | ND |
KIF21B | - | - | - | - | 3 | Gain | ND |
KIF23 | - | - | - | - | 3 | Gain | ND |
KIF24 | p.E822K | Missense | SNP | 1.000 | 0 | Del | ND |
KIF26B | - | - | - | - | 3 | Gain | ND |
KIF5B | - | - | - | - | 1 | Loss | ND |
KIF5C | p.E518K | Missense | SNP | 0.237 | 2 | - | ND |
KIF6 | p.R242Q | Missense | SNP | 0.288 | 2 | - | ND |
KIF7 | - | - | - | - | 3 | Gain | ND |
KIFAP3 | - | - | - | - | 3 | Gain | ND |
KIFC3 | - | - | - | - | 1 | Loss | ND |
KIN | - | - | - | - | 1 | Loss | ND |
KIR3DL1 | p.S346L | Missense | SNP | 0.209 | 2 | - | ND |
KIR3DL3 | p.K393* | Nonsense | SNP | 0.497 | 2 | - | ND |
KIRREL1 | - | - | - | - | 3 | Gain | ND |
KISS1 | - | - | - | - | 3 | Gain | ND |
KLF14 | - | - | - | - | 3 | Gain | ND |
KLF5 | p.LP343FS | Missense | DNP | 0.641 | 2 | - | ND |
KLF6 | - | - | - | - | 1 | Loss | ND |
KLHDC10 | - | - | - | - | 3 | Gain | ND |
KLHDC4 | - | - | - | - | 1 | Loss | ND |
KLHDC7A | p.E635K | Missense | SNP | 0.594 | 3 | Gain | ND |
KLHDC7B | p.G234R | Missense | SNP | 0.194 | 2 | - | ND |
KLHDC8A | - | - | - | - | 3 | Gain | ND |
KLHDC9 | - | - | - | - | 3 | Gain | ND |
KLHL12 | - | - | - | - | 3 | Gain | ND |
KLHL17 | - | - | - | - | 3 | Gain | ND |
KLHL18 | p.P321S | Missense | SNP | 0.486 | 2 | - | ND |
KLHL2 | - | - | - | - | 3 | Gain | ND |
KLHL20 | - | - | - | - | 3 | Gain | ND |
KLHL21 | - | - | - | - | 3 | Gain | ND |
KLHL22 | - | - | - | - | 3 | Gain | ND |
KLHL25 | - | - | - | - | 3 | Gain | ND |
KLHL36 | - | - | - | - | 1 | Loss | ND |
KLHL40 | p.A207V | Missense | SNP | 0.309 | 2 | - | ND |
KLHL7 | - | - | - | - | 3 | Gain | ND |
KLHL8 | - | - | - | - | 1 | Loss | ND |
KLHL9 | - | - | - | - | 0 | Del | ND |
KLKB1 | p.S151L | Missense | SNP | 0.222 | 3 | Gain | ND |
KLRG1 | p.P179S | Missense | SNP | 0.641 | 2 | - | ND |
KMO | p.M317I | Missense | SNP | 0.556 | 3 | Gain | ND |
KMT2B | p.P171S | Missense | SNP | 0.520 | 2 | - | ND |
KMT2C | - | - | - | - | 3 | Gain | ND |
KMT2D | p.T2332I | Missense | SNP | 0.612 | 2 | - | ND |
KMT2E | p.E1388K | Missense | SNP | 0.595 | 3 | Gain | ND |
KMT5A | p.G28N | Missense | DNP | 0.657 | 2 | - | ND |
KNDC1 | - | - | - | - | 1 | Loss | ND |
KPNA6 | - | - | - | - | 3 | Gain | ND |
KPNA7 | - | - | - | - | 3 | Gain | ND |
KRBA1 | - | - | - | - | 3 | Gain | ND |
KREMEN1 | - | - | - | - | 3 | Gain | ND |
KRIT1 | - | - | - | - | 4 | Gain | ND |
KRT12 | p.R158* | Nonsense | SNP | 0.302 | 2 | - | ND |
KRT2 | p.G571E | Missense | SNP | 0.336 | 2 | - | ND |
KRT28 | p.H135Y | Missense | SNP | 0.602 | 2 | - | ND |
KRT33B | p.E185K | Missense | SNP | 0.526 | 2 | - | ND |
KRT6C | p.D323N | Missense | SNP | 0.312 | 2 | - | ND |
KRT76 | p.G154R | Missense | SNP | 0.623 | 2 | - | ND |
KRT84 | p.E294K | Missense | SNP | 0.270 | 2 | - | ND |
KRTAP1-4 | p.G48D | Missense | SNP | 0.229 | ND | ND | ND |
KRTAP4-6 | p.S4F | Missense | SNP | 0.316 | 2 | - | ND |
KRTAP6-2 | p.G45D | Missense | SNP | 0.297 | 2 | - | ND |
KRTCAP2 | - | - | - | - | 3 | Gain | ND |
KSR1 | p.S111L | Missense | SNP | 0.306 | 2 | - | ND |
L3MBTL2 | - | - | - | - | 3 | Gain | ND |
LACTB | - | - | - | - | 3 | Gain | ND |
LACTB2 | p.I274K | Missense | SNP | 0.329 | 2 | - | ND |
LACTBL1 | - | - | - | - | 3 | Gain | ND |
LAD1 | p.S375F p.D43N | Missense Missense | SNP SNP | 0.852 0.308 | 3 | Gain | ND |
LAMA2 | p.R1319* | Nonsense | SNP | 0.321 | 2 | - | ND |
LAMA5 | p.G1723E | Missense | SNP | 0.516 | 2 | - | ND |
LAMB1 | - | - | - | - | 3 | Gain | ND |
LAMB3 | - | - | - | - | 3 | Gain | ND |
LAMB4 | - | - | - | - | 3 | Gain | ND |
LAMC1 | - | - | - | - | 3 | Gain | ND |
LAMC2 | - | - | - | - | 3 | Gain | ND |
LAMTOR2 | - | - | - | - | 3 | Gain | ND |
LAMTOR3 | - | - | - | - | 1 | Loss | ND |
LAMTOR4 | - | - | - | - | 3 | Gain | ND |
LANCL2 | - | - | - | - | 3 | Gain | ND |
LAPTM5 | - | - | - | - | 3 | Gain | ND |
LARGE1 | - | - | - | - | 3 | Gain | ND |
LARGE2 | p.V517I | Missense | SNP | 0.339 | 2 | - | ND |
LARP1B | - | - | - | - | 3 | Gain | ND |
LARP4B | - | - | - | - | 1 | Loss | ND |
LARP6 | - | - | - | - | 3 | Gain | ND |
LARP7 | - | - | - | - | 1 | Loss | ND |
LAT2 | - | - | - | - | 4 | Gain | ND |
LATS2 | p.S274F | Missense | SNP | 0.594 | 2 | - | ND |
LAX1 | - | - | - | - | 3 | Gain | ND |
LBR | - | - | - | - | 3 | Gain | ND |
LCAT | - | - | - | - | 1 | Loss | ND |
LCE1C | p.P39S | Missense | SNP | 0.207 | 2 | - | ND |
LCE5A | p.S41L | Missense | SNP | 0.765 | 2 | - | ND |
LCK | - | - | - | - | 3 | Gain | ND |
LCOR | p.I238N p.A1200T | Missense Missense | SNP SNP | 0.362 0.309 | 2 | - | ND |
LCTL | - | - | - | - | 3 | Gain | ND |
LDHAL6B | - | - | - | - | 3 | Gain | ND |
LDHD | - | - | - | - | 1 | Loss | ND |
LDLRAD2 | - | - | - | - | 3 | Gain | ND |
LDLRAP1 | - | - | - | - | 3 | Gain | ND |
LEF1 | - | - | - | - | 1 | Loss | ND |
LEFTY1 | - | - | - | - | 3 | Gain | ND |
LEFTY2 | - | - | - | - | 3 | Gain | ND |
LELP1 | - | - | - | - | 3 | Gain | ND |
LEMD1 | - | - | - | - | 3 | Gain | ND |
LENEP | - | - | - | - | 3 | Gain | ND |
LENG8 | p.T332I | Missense | SNP | 0.562 | 2 | - | ND |
LEP | - | - | - | - | 3 | Gain | ND |
LFNG | - | - | - | - | 3 | Gain | ND |
LGALS1 | - | - | - | - | 3 | Gain | ND |
LGALS2 | - | - | - | - | 3 | Gain | ND |
LGALS8 | - | - | - | - | 3 | Gain | ND |
LGR6 | p.S163F | Missense | SNP | 0.102 | 3 | Gain | ND |
LHFPL3 | - | - | - | - | 3 | Gain | ND |
LHX4 | - | - | - | - | 3 | Gain | ND |
LHX9 | p.R271Q | Missense | SNP | 0.213 | 3 | Gain | ND |
LIF | - | - | - | - | 3 | Gain | ND |
LIFR | - | - | - | - | 3 | Gain | ND |
LILRA4 | p.P181S | Missense | SNP | 0.514 | 2 | - | ND |
LILRB1 | p.D260N | Missense | SNP | 0.250 | 2 | - | ND |
LIMK1 | - | - | - | - | 3 | Gain | ND |
LIMK2 | - | - | - | - | 3 | Gain | ND |
LIMS1 | p.P108S | Missense | SNP | 0.275 | 2 | - | ND |
LIN28A | - | - | - | - | 3 | Gain | ND |
LIN54 | - | - | - | - | 1 | Loss | ND |
LIN9 | - | - | - | - | 3 | Gain | ND |
LINC02203 | - | - | - | - | 3 | Gain | ND |
LINGO1 | - | - | - | - | 3 | Gain | ND |
LINGO2 | - | - | - | - | 0 | Del | ND |
LINS1 | - | - | - | - | 3 | Gain | ND |
LIPC | - | - | - | - | 3 | Gain | ND |
LIPF | p.D159N | Missense | SNP | 0.268 | 2 | - | ND |
LMAN1L | - | - | - | - | 3 | Gain | ND |
LMAN2L | p.S279F | Missense | SNP | 0.451 | 2 | - | ND |
LMBR1 | - | - | - | - | 3 | Gain | ND |
LMLN2 | - | - | - | - | 1 | Loss | ND |
LMNA | p.E203K | Missense | DNP | 0.643 | 3 | Gain | ND |
LMO7DN | p.W9* | Nonsense | SNP | 0.599 | ND | ND | ND |
LMOD1 | - | - | - | - | 3 | Gain | ND |
LMOD2 | - | - | - | - | 3 | Gain | ND |
LMTK2 | - | - | - | - | 3 | Gain | ND |
LMX1A | - | - | - | - | 3 | Gain | ND |
LONP2 | - | - | - | - | 1 | Loss | ND |
LOR | - | - | - | - | 3 | Gain | ND |
LOXHD1 | p.D531N | Missense | SNP | 0.282 | 2 | - | ND |
LOXL1 | - | - | - | - | 3 | Gain | ND |
LPCAT2 | - | - | - | - | 1 | Loss | ND |
LPGAT1 | - | - | - | - | 3 | Gain | ND |
LRAT | - | - | - | - | 1 | Loss | ND |
LRBA | - | - | - | - | 1 | Loss | ND |
LRCH4 | - | - | - | - | 3 | Gain | ND |
LRFN5 | p.S394F | Missense | SNP | 0.299 | 2 | - | ND |
LRIT3 | - | - | - | - | 1 | Loss | ND |
LRP1 | p.L2656F p.H4116Y | Missense Missense | SNP SNP | 0.342 0.641 | 2 | - | ND |
LRP1B | p.W4001* p.R2495Q p.S1102F | Nonsense Missense Missense | SNP SNP SNP | 0.289 0.398 0.209 | 2 | - | ND |
LRP2 | p.W4295* p.R1206C | Nonsense Missense | SNP SNP | 0.191 0.255 | 2 | - | ND |
LRP2BP | - | - | - | - | 3 | Gain | ND |
LRP5L | - | - | - | - | 3 | Gain | ND |
LRRC15 | p.N249T | Missense | SNP | 0.245 | 2 | - | ND |
LRRC17 | - | - | - | - | 3 | Gain | ND |
LRRC18 | - | - | - | - | 1 | Loss | ND |
LRRC19 | - | - | - | - | 0 | Del | ND |
LRRC27 | - | - | - | - | 1 | Loss | ND |
LRRC28 | - | - | - | - | 3 | Gain | ND |
LRRC29 | - | - | - | - | 1 | Loss | ND |
LRRC30 | p.P87S | Missense | SNP | 0.536 | 2 | - | ND |
LRRC31 | p.D294N | Missense | SNP | 0.575 | 2 | - | ND |
LRRC36 | - | - | - | - | 1 | Loss | ND |
LRRC37A3 | p.S146L | Missense | SNP | 0.548 | 2 | - | ND |
LRRC38 | - | - | - | - | 3 | Gain | ND |
LRRC4 | - | - | - | - | 3 | Gain | ND |
LRRC47 | - | - | - | - | 3 | Gain | ND |
LRRC49 | - | - | - | - | 3 | Gain | ND |
LRRC52 | - | - | - | - | 3 | Gain | ND |
LRRC53 | p.D291N | Missense | SNP | 0.854 | 2 | - | ND |
LRRC61 | p.A78V | Missense | DNP | 0.375 | 3 | Gain | ND |
LRRC71 | - | - | - | - | 3 | Gain | ND |
LRRC72 | - | - | - | - | 3 | Gain | ND |
LRRC74B | - | - | - | - | 3 | Gain | ND |
LRRC75B | - | - | - | - | 3 | Gain | ND |
LRRCC1 | p.G159E | Missense | SNP | 0.214 | 2 | - | ND |
LRRD1 | - | - | - | - | 3 | Gain | ND |
LRRIQ3 | p.S217L | Missense | SNP | 0.316 | 2 | - | ND |
LRRIQ4 | p.T189I | Missense | SNP | 0.476 | 2 | - | ND |
LRRK1 | - | - | - | - | 3 | Gain | ND |
LRRN2 | p.G658S | Missense | SNP | 0.825 | 3 | Gain | ND |
LRRN3 | - | - | - | - | 3 | Gain | ND |
LRWD1 | - | - | - | - | 3 | Gain | ND |
LSG1 | p.K450E | Missense | SNP | 0.442 | 2 | - | ND |
LSM10 | - | - | - | - | 3 | Gain | ND |
LSM12 | p.P187L | Missense | SNP | 0.640 | 2 | - | ND |
LSM14A | p.R42* | Nonsense | SNP | 0.230 | 2 | - | ND |
LSM5 | - | - | - | - | 3 | Gain | ND |
LSM6 | - | - | - | - | 3 | Gain | ND |
LSM8 | - | - | - | - | 3 | Gain | ND |
LSMEM1 | - | - | - | - | 3 | Gain | ND |
LTBP4 | p.P1491L | Missense | SNP | 0.500 | 2 | - | ND |
LTK | p.S789* | Nonsense | SNP | 1.000 | 2 | - | ND |
LURAP1L | - | - | - | - | 0 | Del | ND |
LUZP1 | - | - | - | - | 3 | Gain | ND |
LUZP2 | p.M206I | Missense | SNP | 0.359 | 2 | - | ND |
LUZP4 | p.G134E | Missense | SNP | 1.000 | ND | ND | ND |
LY75 | p.E1402K p.V474T | Missense Missense | SNP DNP | 0.533 0.381 | 2 | - | ND |
LY9 | - | - | - | - | 3 | Gain | ND |
LYPD8 | - | - | - | - | 3 | Gain | ND |
LYPLA2 | - | - | - | - | 3 | Gain | ND |
LYPLAL1 | - | - | - | - | 3 | Gain | ND |
LYSMD4 | - | - | - | - | 3 | Gain | ND |
LYST | - | - | - | - | 3 | Gain | ND |
LYZL1 | - | - | - | - | 1 | Loss | ND |
LYZL2 | - | - | - | - | 1 | Loss | ND |
LZIC | - | - | - | - | 3 | Gain | ND |
LZTR1 | p.R630L | Missense | SNP | 0.519 | 3 | Gain | ND |
MAB21L2 | - | - | - | - | 1 | Loss | ND |
MACC1 | - | - | - | - | 3 | Gain | ND |
MACO1 | - | - | - | - | 3 | Gain | ND |
MAD1L1 | - | - | - | - | 3 | Gain | ND |
MAD2L1 | - | - | - | - | 1 | Loss | ND |
MAD2L2 | - | - | - | - | 3 | Gain | ND |
MAEL | - | - | - | - | 3 | Gain | ND |
MAF | - | - | - | - | 1 | Loss | ND |
MAFF | - | - | - | - | 3 | Gain | ND |
MAFK | - | - | - | - | 3 | Gain | ND |
MAG | p.A6T | Missense | SNP | 0.236 | 2 | - | ND |
MAGEL2 | - | - | - | - | 3 | Gain | ND |
MAGI1 | p.E354K | Missense | SNP | 0.458 | 2 | - | ND |
MAGI2 | - | - | - | - | 4 | Gain | ND |
MALRD1 | - | - | - | - | 1 | Loss | ND |
MALSU1 | - | - | - | - | 3 | Gain | ND |
MAML1 | p.V111D | Missense | SNP | 0.718 | 2 | - | ND |
MAML3 | - | - | - | - | 3 | Gain | ND |
MAMLD1 | p.S938L | Missense | SNP | 0.488 | ND | ND | ND |
MAN1C1 | - | - | - | - | 3 | Gain | ND |
MAN2A2 | - | - | - | - | 3 | Gain | ND |
MAN2B1 | p.A656V p.T243I | Missense Missense | DNP SNP | 0.457 0.221 | 2 | - | ND |
MAN2C1 | - | - | - | - | 3 | Gain | ND |
MANBA | - | - | - | - | 1 | Loss | ND |
MAP10 | - | - | - | - | 3 | Gain | ND |
MAP1A | p.A507V | Missense | SNP | 1.000 | 2 | - | ND |
MAP1B | p.E1392K | Missense | SNP | 0.278 | 2 | - | ND |
MAP1LC3B | - | - | - | - | 1 | Loss | ND |
MAP1LC3C | - | - | - | - | 3 | Gain | ND |
MAP2K1 | - | - | - | - | 3 | Gain | ND |
MAP2K5 | - | - | - | - | 3 | Gain | ND |
MAP3K1 | - | - | - | - | 3 | Gain | ND |
MAP3K21 | - | - | - | - | 3 | Gain | ND |
MAP3K5 | p.F897Y | Missense | SNP | 0.662 | 2 | - | ND |
MAP3K6 | - | - | - | - | 3 | Gain | ND |
MAP3K8 | - | - | - | - | 1 | Loss | ND |
MAP4 | p.S749F | Missense | SNP | 0.578 | 2 | - | ND |
MAP7D1 | p.P492L | Missense | SNP | 0.440 | 3 | Gain | ND |
MAP9 | - | - | - | - | 1 | Loss | ND |
MAPK1 | - | - | - | - | 3 | Gain | ND |
MAPK10 | - | - | - | - | 1 | Loss | ND |
MAPK11 | p.G31D | Missense | SNP | 0.252 | 2 | - | ND |
MAPK3 | p.H327Q | Missense | SNP | 0.330 | 2 | - | ND |
MAPK8 | - | - | - | - | 1 | Loss | ND |
MAPKAPK2 | - | - | - | - | 3 | Gain | ND |
MARC1 | - | - | - | - | 3 | Gain | ND |
MARC2 | - | - | - | - | 3 | Gain | ND |
MARCH1 | - | - | - | - | 3 | Gain | ND |
MARCH10 | p.S63F | Missense | SNP | 0.622 | 2 | - | ND |
MARCH8 | - | - | - | - | 1 | Loss | ND |
MARCKSL1 | - | - | - | - | 3 | Gain | ND |
MARCO | p.G403E | Missense | SNP | 0.523 | 2 | - | ND |
MARK1 | - | - | - | - | 3 | Gain | ND |
MARVELD3 | - | - | - | - | 1 | Loss | ND |
MASP2 | - | - | - | - | 3 | Gain | ND |
MASTL | - | - | - | - | 1 | Loss | ND |
MATN1 | - | - | - | - | 3 | Gain | ND |
MAZ | p.X147_splice | Splice_Site | SNP | 0.527 | 2 | - | ND |
MB | - | - | - | - | 3 | Gain | ND |
MBL2 | - | - | - | - | 1 | Loss | ND |
MBLAC1 | - | - | - | - | 3 | Gain | ND |
MBTPS1 | - | - | - | - | 1 | Loss | ND |
MC1R | - | - | - | - | 1 | Loss | ND |
MCF2 | p.P454S | Missense | SNP | 0.511 | ND | ND | ND |
MCHR1 | - | - | - | - | 3 | Gain | ND |
MCIDAS | - | - | - | - | 3 | Gain | ND |
MCM10 | - | - | - | - | 1 | Loss | ND |
MCM5 | - | - | - | - | 3 | Gain | ND |
MCM7 | - | - | - | - | 3 | Gain | ND |
MCOLN3 | p.H232N p.R231S | Missense Missense | SNP SNP | 0.750 0.765 | 2 | - | ND |
MCTP2 | - | - | - | - | 3 | Gain | ND |
MCUB | - | - | - | - | 1 | Loss | ND |
MDFIC | - | - | - | - | 3 | Gain | ND |
MDGA1 | p.D903Y | Missense | SNP | 0.437 | 2 | - | ND |
MDGA2 | p.R207* | Nonsense | SNP | 0.667 | 2 | - | ND |
MDH2 | - | - | - | - | 3 | Gain | ND |
MDM4 | - | - | - | - | 3 | Gain | ND |
ME1 | p.R254C | Missense | SNP | 0.616 | 2 | - | ND |
ME3 | p.Y243N | Missense | SNP | 0.525 | 2 | - | ND |
MEAF6 | - | - | - | - | 3 | Gain | ND |
MECOM | p.E722K | Missense | SNP | 0.522 | 2 | - | ND |
MECR | - | - | - | - | 3 | Gain | ND |
MED12L | p.P2040S | Missense | SNP | 0.500 | 2 | - | ND |
MED13 | p.P634L | Missense | SNP | 0.298 | 2 | - | ND |
MED15 | - | - | - | - | 3 | Gain | ND |
MED18 | - | - | - | - | 3 | Gain | ND |
MEF2A | - | - | - | - | 3 | Gain | ND |
MEF2D | - | - | - | - | 3 | Gain | ND |
MEGF10 | p.G426E | Missense | SNP | 0.256 | 2 | - | ND |
MEGF11 | - | - | - | - | 3 | Gain | ND |
MEGF6 | - | - | - | - | 3 | Gain | ND |
MEIG1 | - | - | - | - | 1 | Loss | ND |
MELK | - | - | - | - | 1 | Loss | ND |
MELTF | p.S268F | Missense | SNP | 0.580 | 2 | - | ND |
MEOX1 | p.P97L | Missense | SNP | 0.228 | 2 | - | ND |
MEOX2 | - | - | - | - | 3 | Gain | ND |
MEPCE | - | - | - | - | 3 | Gain | ND |
MEPE | - | - | - | - | 1 | Loss | ND |
MERTK | p.F115L | Missense | SNP | 0.237 | 2 | - | ND |
MESD | - | - | - | - | 3 | Gain | ND |
MESP1 | - | - | - | - | 3 | Gain | ND |
MESP2 | - | - | - | - | 3 | Gain | ND |
MEST | - | - | - | - | 3 | Gain | ND |
MET | - | - | - | - | 3 | Gain | ND |
METAP1 | - | - | - | - | 1 | Loss | ND |
METTL11B | - | - | - | - | 3 | Gain | ND |
METTL13 | - | - | - | - | 3 | Gain | ND |
METTL14 | - | - | - | - | 1 | Loss | ND |
METTL18 | - | - | - | - | 3 | Gain | ND |
METTL27 | - | - | - | - | 3 | Gain | ND |
METTL2B | - | - | - | - | 3 | Gain | ND |
METTL4 | p.P320S | Missense | SNP | 0.208 | 2 | - | ND |
MEX3A | - | - | - | - | 3 | Gain | ND |
MEX3B | - | - | - | - | 3 | Gain | ND |
MFAP2 | - | - | - | - | 3 | Gain | ND |
MFAP3L | - | - | - | - | 3 | Gain | ND |
MFAP5 | p.E133K | Missense | SNP | 0.696 | 2 | - | ND |
MFGE8 | - | - | - | - | 3 | Gain | ND |
MFN2 | - | - | - | - | 3 | Gain | ND |
MFNG | - | - | - | - | 3 | Gain | ND |
MFRP | p.E544K | Missense | SNP | 0.614 | 2 | - | ND |
MFSD10 | - | - | - | - | 3 | Gain | ND |
MFSD4A | - | - | - | - | 3 | Gain | ND |
MFSD8 | - | - | - | - | 3 | Gain | ND |
MGAM | p.K134T p.G294R p.P1329S p.P1514S | Missense Missense Missense Missense | SNP SNP SNP SNP | 0.159 0.665 0.341 0.378 | ND | ND | ND |
MGAM2 | p.S560F p.E1092K p.G1667R | Missense Missense Missense | SNP SNP SNP | 0.143 0.295 0.268 | ND | ND | ND |
MGARP | - | - | - | - | 3 | Gain | ND |
MGAT3 | - | - | - | - | 3 | Gain | ND |
MGAT4D | - | - | - | - | 3 | Gain | ND |
MGST2 | - | - | - | - | 3 | Gain | ND |
MGST3 | - | - | - | - | 3 | Gain | ND |
MIA3 | - | - | - | - | 3 | Gain | ND |
MIB2 | - | - | - | - | 3 | Gain | ND |
MICAL3 | - | - | - | - | 3 | Gain | ND |
MICALL1 | - | - | - | - | 3 | Gain | ND |
MICALL2 | - | - | - | - | 3 | Gain | ND |
MIEF1 | - | - | - | - | 3 | Gain | ND |
MIER3 | - | - | - | - | 3 | Gain | ND |
MIF | - | - | - | - | 3 | Gain | ND |
MIIP | - | - | - | - | 3 | Gain | ND |
MINDY2 | - | - | - | - | 3 | Gain | ND |
MINDY3 | - | - | - | - | 1 | Loss | ND |
MINDY4 | - | - | - | - | 3 | Gain | ND |
MINOS1 | - | - | - | - | 3 | Gain | ND |
MINOS1-NBL1 | - | - | - | - | 3 | Gain | ND |
MIOS | - | - | - | - | 3 | Gain | ND |
MIXL1 | - | - | - | - | 3 | Gain | ND |
MKLN1 | - | - | - | - | 3 | Gain | ND |
MKRN3 | p.P64S | Missense | SNP | 0.123 | 3 | Gain | ND |
MKX | - | - | - | - | 1 | Loss | ND |
MLANA | - | - | - | - | 0 | Del | ND |
MLKL | - | - | - | - | 1 | Loss | ND |
MLLT10 | - | - | - | - | 1 | Loss | ND |
MLLT3 | - | - | - | - | 0 | Del | ND |
MLXIPL | - | - | - | - | 3 | Gain | ND |
MLYCD | - | - | - | - | 1 | Loss | ND |
MMAA | - | - | - | - | 3 | Gain | ND |
MMD2 | - | - | - | - | 3 | Gain | ND |
MMEL1 | - | - | - | - | 3 | Gain | ND |
MMP11 | - | - | - | - | 3 | Gain | ND |
MMP15 | - | - | - | - | 1 | Loss | ND |
MMP2 | - | - | - | - | 1 | Loss | ND |
MMP23B | - | - | - | - | 3 | Gain | ND |
MMP24 | p.D318N | Missense | SNP | 0.526 | 2 | - | ND |
MMRN1 | - | - | - | - | 1 | Loss | ND |
MN1 | - | - | - | - | 3 | Gain | ND |
MND1 | - | - | - | - | 1 | Loss | ND |
MNDA | - | - | - | - | 3 | Gain | ND |
MNS1 | - | - | - | - | 3 | Gain | ND |
MNX1 | - | - | - | - | 3 | Gain | ND |
MOB3B | - | - | - | - | 0 | Del | ND |
MOCOS | p.L328R | Missense | SNP | 0.470 | 2 | - | ND |
MOCS1 | p.D340N | Missense | SNP | 0.696 | 2 | - | ND |
MOCS2 | - | - | - | - | 3 | Gain | ND |
MOGAT3 | - | - | - | - | 3 | Gain | ND |
MOGS | p.R535* | Nonsense | DNP | 0.458 | 2 | - | ND |
MON1B | - | - | - | - | 1 | Loss | ND |
MORC1 | p.K911I p.E590K p.N413Y p.M250I | Missense Missense Missense Missense | SNP SNP SNP SNP | 0.430 0.245 0.481 0.170 | 2 | - | ND |
MORC2 | - | - | - | - | 3 | Gain | ND |
MORF4L1 | - | - | - | - | 3 | Gain | ND |
MORN1 | - | - | - | - | 3 | Gain | ND |
MOSPD3 | - | - | - | - | 3 | Gain | ND |
MOV10L1 | p.R440Q | Missense | SNP | 0.259 | 2 | - | ND |
MPC2 | - | - | - | - | 3 | Gain | ND |
MPDZ | - | - | - | - | 0 | Del | ND |
MPHOSPH6 | - | - | - | - | 1 | Loss | ND |
MPI | - | - | - | - | 3 | Gain | ND |
MPLKIP | - | - | - | - | 3 | Gain | ND |
MPP6 | - | - | - | - | 3 | Gain | ND |
MPP7 | - | - | - | - | 1 | Loss | ND |
MPST | - | - | - | - | 3 | Gain | ND |
MPZ | - | - | - | - | 3 | Gain | ND |
MPZL1 | - | - | - | - | 3 | Gain | ND |
MR1 | - | - | - | - | 3 | Gain | ND |
MRC1 | - | - | - | - | 1 | Loss | ND |
MRM2 | - | - | - | - | 3 | Gain | ND |
MROH2B | - | - | - | - | 3 | Gain | ND |
MROH9 | p.L177V p.G761E | Missense Missense | SNP SNP | 0.341 0.333 | 3 | Gain | ND |
MRPL1 | - | - | - | - | 1 | Loss | ND |
MRPL20 | - | - | - | - | 3 | Gain | ND |
MRPL24 | - | - | - | - | 3 | Gain | ND |
MRPL32 | - | - | - | - | 3 | Gain | ND |
MRPL40 | - | - | - | - | 3 | Gain | ND |
MRPL46 | - | - | - | - | 3 | Gain | ND |
MRPL51 | p.P18L | Missense | SNP | 0.429 | 2 | - | ND |
MRPL55 | - | - | - | - | 3 | Gain | ND |
MRPS11 | - | - | - | - | 3 | Gain | ND |
MRPS14 | - | - | - | - | 3 | Gain | ND |
MRPS15 | - | - | - | - | 3 | Gain | ND |
MRPS17 | - | - | - | - | 3 | Gain | ND |
MRPS18C | - | - | - | - | 1 | Loss | ND |
MRPS24 | - | - | - | - | 3 | Gain | ND |
MRPS30 | - | - | - | - | 3 | Gain | ND |
MRTFA | - | - | - | - | 3 | Gain | ND |
MRTO4 | - | - | - | - | 3 | Gain | ND |
MRVI1 | p.A108T | Missense | SNP | 0.199 | 2 | - | ND |
MS4A1 | p.M71I | Missense | SNP | 0.402 | 2 | - | ND |
MS4A3 | p.G103E | Missense | SNP | 0.352 | 2 | - | ND |
MSANTD1 | - | - | - | - | 3 | Gain | ND |
MSMB | - | - | - | - | 1 | Loss | ND |
MSMO1 | - | - | - | - | 3 | Gain | ND |
MSMP | - | - | - | - | 1 | Loss | ND |
MSRB2 | - | - | - | - | 1 | Loss | ND |
MSTO1 | - | - | - | - | 3 | Gain | ND |
MT1A | - | - | - | - | 1 | Loss | ND |
MT1B | - | - | - | - | 1 | Loss | ND |
MT1E | - | - | - | - | 1 | Loss | ND |
MT1F | - | - | - | - | 1 | Loss | ND |
MT1G | - | - | - | - | 1 | Loss | ND |
MT1H | - | - | - | - | 1 | Loss | ND |
MT1HL1 | - | - | - | - | 3 | Gain | ND |
MT1M | - | - | - | - | 1 | Loss | ND |
MT1X | - | - | - | - | 1 | Loss | ND |
MT2A | - | - | - | - | 1 | Loss | ND |
MT3 | - | - | - | - | 1 | Loss | ND |
MT4 | - | - | - | - | 1 | Loss | ND |
MTAP | - | - | - | - | 0 | Del | ND |
MTERF1 | - | - | - | - | 3 | Gain | ND |
MTERF3 | p.S126L | Missense | SNP | 0.209 | 2 | - | ND |
MTFMT | - | - | - | - | 3 | Gain | ND |
MTFP1 | - | - | - | - | 3 | Gain | ND |
MTFR1L | - | - | - | - | 3 | Gain | ND |
MTG1 | - | - | - | - | 1 | Loss | ND |
MTHFR | - | - | - | - | 3 | Gain | ND |
MTHFS | - | - | - | - | 3 | Gain | ND |
MTHFSD | - | - | - | - | 1 | Loss | ND |
MTMR10 | - | - | - | - | 3 | Gain | ND |
MTMR12 | - | - | - | - | 3 | Gain | ND |
MTMR2 | p.S49F | Missense | SNP | 0.671 | 2 | - | ND |
MTMR3 | - | - | - | - | 3 | Gain | ND |
MTNR1A | - | - | - | - | 3 | Gain | ND |
MTOR | - | - | - | - | 3 | Gain | ND |
MTPAP | - | - | - | - | 1 | Loss | ND |
MTR | - | - | - | - | 3 | Gain | ND |
MTREX | - | - | - | - | 3 | Gain | ND |
MTSS1L | - | - | - | - | 1 | Loss | ND |
MTTP | p.P526L | Missense | SNP | 0.977 | 1 | Loss | ND |
MTURN | - | - | - | - | 3 | Gain | ND |
MTUS2 | p.E466K p.P543S | Missense Missense | SNP SNP | 0.298 0.606 | 2 | - | ND |
MTX1 | - | - | - | - | 3 | Gain | ND |
MUC1 | - | - | - | - | 3 | Gain | ND |
MUC12 | p.E1323K | Missense | SNP | 1.000 | 3 | Gain | ND |
MUC16 | p.X13826_splice p.E12105K p.S11896F p.P11354S p.E11068K p.H9807Y p.P9741S p.S9567F p.P9259S p.E7683K p.V7653I p.H7472Y p.S7242F p.E7091K p.S6543L p.P5623L p.P5119S p.G3608E p.G3303E p.E2974K p.P2206S p.I1047T p.S744L p.R100K | Splice_Site Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense | SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP | 0.513 0.523 0.452 0.216 0.263 0.247 0.224 0.495 0.254 0.511 0.180 0.147 0.486 0.293 0.459 0.485 0.230 0.212 0.496 0.488 0.549 0.615 0.524 0.566 | 2 | - | ND |
MUC17 | p.S1742L p.G2336R p.S3438L p.S4104F | Missense Missense Missense Missense | SNP SNP SNP SNP | 0.344 0.179 0.163 0.168 | 3 | Gain | ND |
MUC3A | - | - | - | - | 3 | Gain | ND |
MUC4 | p.G4543A p.T3124I | Missense Missense | SNP SNP | 0.439 0.200 | 2 | - | ND |
MUL1 | - | - | - | - | 3 | Gain | ND |
MUT | p.P234S | Missense | SNP | 0.281 | 2 | - | ND |
MVD | - | - | - | - | 1 | Loss | ND |
MVP | p.R456C | Missense | DNP | 0.367 | 2 | - | ND |
MX2 | p.P163S | Missense | SNP | 0.255 | 2 | - | ND |
MXRA5 | p.N1735S p.K793T p.S454F | Missense Missense Missense | SNP SNP SNP | 1.000 0.388 0.985 | ND | ND | ND |
MXRA8 | - | - | - | - | 3 | Gain | ND |
MYBPC3 | p.G118E | Missense | SNP | 0.648 | 2 | - | ND |
MYBPH | - | - | - | - | 3 | Gain | ND |
MYH1 | p.E1744Q p.G1524E p.R791Q | Missense Missense Missense | SNP SNP SNP | 0.684 0.317 0.371 | 2 | - | ND |
MYH15 | p.E895D | Missense | SNP | 0.565 | 2 | - | ND |
MYH2 | p.S1476F | Missense | SNP | 0.341 | 2 | - | ND |
MYH6 | p.E1586K p.E874K p.E375K | Missense Missense Missense | SNP SNP SNP | 0.349 0.330 0.635 | 1 | Loss | ND |
MYH7 | p.E944K | Missense | SNP | 0.629 | 1 | Loss | ND |
MYH9 | - | - | - | - | 3 | Gain | ND |
MYL10 | - | - | - | - | 3 | Gain | ND |
MYL7 | - | - | - | - | 3 | Gain | ND |
MYLK3 | - | - | - | - | 1 | Loss | ND |
MYO15A | p.H422Y p.P506L | Missense Missense | SNP SNP | 0.296 0.298 | 2 | - | ND |
MYO18B | - | - | - | - | 3 | Gain | ND |
MYO1E | - | - | - | - | 3 | Gain | ND |
MYO1G | - | - | - | - | 3 | Gain | ND |
MYO3A | p.R973W | Missense | SNP | 1.000 | 1 | Loss | ND |
MYO3B | p.G1090R | Missense | SNP | 0.431 | 2 | - | ND |
MYO5B | p.E1255K | Missense | SNP | 0.533 | 2 | - | ND |
MYO7A | p.M1644I | Missense | SNP | 0.284 | 2 | - | ND |
MYO9A | - | - | - | - | 1 | Loss | ND |
MYOC | - | - | - | - | 3 | Gain | ND |
MYOCD | p.S891F | Missense | SNP | 0.300 | 2 | - | ND |
MYOCOS | - | - | - | - | 3 | Gain | ND |
MYOG | - | - | - | - | 3 | Gain | ND |
MYOM2 | p.E751K | Missense | SNP | 0.320 | 2 | - | ND |
MYOM3 | - | - | - | - | 3 | Gain | ND |
MYORG | - | - | - | - | 0 | Del | ND |
MYOZ2 | - | - | - | - | 1 | Loss | ND |
MYRFL | p.K652I | Missense | SNP | 0.400 | 2 | - | ND |
MYSM1 | p.P558S | Missense | SNP | 0.260 | 2 | - | ND |
MYT1L | p.E450K | Missense | SNP | 0.514 | 2 | - | ND |
MYZAP | - | - | - | - | 3 | Gain | ND |
N4BP1 | - | - | - | - | 1 | Loss | ND |
NAA11 | - | - | - | - | 1 | Loss | ND |
NAA15 | - | - | - | - | 3 | Gain | ND |
NAAA | - | - | - | - | 1 | Loss | ND |
NACAD | - | - | - | - | 3 | Gain | ND |
NADK | - | - | - | - | 3 | Gain | ND |
NADK2 | - | - | - | - | 3 | Gain | ND |
NAE1 | - | - | - | - | 1 | Loss | ND |
NAF1 | - | - | - | - | 3 | Gain | ND |
NAIP | - | - | - | - | 1 | Loss | ND |
NAMPT | - | - | - | - | 3 | Gain | ND |
NAP1L5 | - | - | - | - | 1 | Loss | ND |
NAPEPLD | - | - | - | - | 3 | Gain | ND |
NAT16 | - | - | - | - | 3 | Gain | ND |
NAV1 | - | - | - | - | 3 | Gain | ND |
NAXE | - | - | - | - | 3 | Gain | ND |
NBEAL1 | p.P2477S | Missense | SNP | 0.215 | 2 | - | ND |
NBL1 | - | - | - | - | 3 | Gain | ND |
NBPF1 | - | - | - | - | 3 | Gain | ND |
NBPF20 | - | - | - | - | 1 | Loss | ND |
NBPF3 | - | - | - | - | 3 | Gain | ND |
NCAPD3 | p.H690Y | Missense | SNP | 0.725 | 2 | - | ND |
NCAPG2 | - | - | - | - | 3 | Gain | ND |
NCDN | - | - | - | - | 3 | Gain | ND |
NCF1 | - | - | - | - | 4 | Gain | ND |
NCF2 | - | - | - | - | 3 | Gain | ND |
NCF4 | - | - | - | - | 3 | Gain | ND |
NCLN | p.E7A | Missense | SNP | 0.526 | 2 | - | ND |
NCMAP | - | - | - | - | 3 | Gain | ND |
NCOA2 | p.R338C | Missense | SNP | 0.539 | 2 | - | ND |
NCOA3 | p.G1152E | Missense | SNP | 0.320 | 2 | - | ND |
NCOA4 | - | - | - | - | 1 | Loss | ND |
NCSTN | - | - | - | - | 3 | Gain | ND |
NDC1 | p.R644Q | Missense | SNP | 0.716 | 2 | - | ND |
NDN | p.P83S | Missense | SNP | 0.229 | 3 | Gain | ND |
NDNF | - | - | - | - | 1 | Loss | ND |
NDRG4 | - | - | - | - | 1 | Loss | ND |
NDST3 | - | - | - | - | 1 | Loss | ND |
NDST4 | - | - | - | - | 1 | Loss | ND |
NDUFA4 | - | - | - | - | 3 | Gain | ND |
NDUFA5 | - | - | - | - | 3 | Gain | ND |
NDUFB6 | - | - | - | - | 0 | Del | ND |
NDUFC1 | - | - | - | - | 3 | Gain | ND |
NDUFS1 | p.R166* | Nonsense | DNP | 0.407 | 2 | - | ND |
NDUFS2 | - | - | - | - | 3 | Gain | ND |
NDUFS4 | - | - | - | - | 3 | Gain | ND |
NEBL | - | - | - | - | 1 | Loss | ND |
NECAB2 | - | - | - | - | 1 | Loss | ND |
NECAP2 | p.W42* | Nonsense | SNP | 0.596 | 3 | Gain | ND |
NECTIN4 | - | - | - | - | 3 | Gain | ND |
NEDD4 | - | - | - | - | 3 | Gain | ND |
NEFH | - | - | - | - | 3 | Gain | ND |
NEIL1 | - | - | - | - | 3 | Gain | ND |
NEIL3 | - | - | - | - | 3 | Gain | ND |
NEK1 | - | - | - | - | 3 | Gain | ND |
NEK2 | p.R190C | Missense | SNP | 0.806 | 3 | Gain | ND |
NEK4 | - | - | - | - | 3 | Gain | ND |
NEK7 | - | - | - | - | 3 | Gain | ND |
NELFCD | p.L229F | Missense | DNP | 0.502 | 2 | - | ND |
NELL2 | p.G612D | Missense | SNP | 0.709 | 2 | - | ND |
NEMP1 | p.S372F | Missense | SNP | 0.333 | 2 | - | ND |
NENF | - | - | - | - | 3 | Gain | ND |
NEO1 | - | - | - | - | 3 | Gain | ND |
NES | - | - | - | - | 3 | Gain | ND |
NET1 | - | - | - | - | 1 | Loss | ND |
NETO2 | - | - | - | - | 1 | Loss | ND |
NEURL1 | p.H66Y | Missense | SNP | 0.689 | 2 | - | ND |
NEUROD4 | p.S295L | Missense | SNP | 0.331 | 2 | - | ND |
NEUROD6 | - | - | - | - | 3 | Gain | ND |
NEUROG2 | - | - | - | - | 1 | Loss | ND |
NF2 | - | - | - | - | 3 | Gain | ND |
NFASC | - | - | - | - | 3 | Gain | ND |
NFAT5 | - | - | - | - | 1 | Loss | ND |
NFATC3 | - | - | - | - | 1 | Loss | ND |
NFE2L3 | - | - | - | - | 3 | Gain | ND |
NFE4 | - | - | - | - | 3 | Gain | ND |
NFIB | - | - | - | - | 0 | Del | ND |
NFKB1 | - | - | - | - | 1 | Loss | ND |
NFX1 | - | - | - | - | 0 | Del | ND |
NGDN | - | - | - | - | 1 | Loss | ND |
NGRN | - | - | - | - | 3 | Gain | ND |
NHLH1 | p.R55W | Missense | DNP | 0.822 | 3 | Gain | ND |
NHSL1 | p.S1578F | Missense | SNP | 0.310 | 2 | - | ND |
NID1 | - | - | - | - | 3 | Gain | ND |
NID2 | p.G872S | Missense | SNP | 0.367 | 2 | - | ND |
NIM1K | - | - | - | - | 3 | Gain | ND |
NIP7 | - | - | - | - | 1 | Loss | ND |
NIPA1 | - | - | - | - | 3 | Gain | ND |
NIPA2 | - | - | - | - | 3 | Gain | ND |
NIPAL3 | - | - | - | - | 3 | Gain | ND |
NIPBL | - | - | - | - | 3 | Gain | ND |
NIPSNAP1 | - | - | - | - | 3 | Gain | ND |
NIPSNAP2 | - | - | - | - | 3 | Gain | ND |
NIT1 | - | - | - | - | 3 | Gain | ND |
NKAIN1 | - | - | - | - | 3 | Gain | ND |
NKD1 | - | - | - | - | 1 | Loss | ND |
NKD2 | p.P54S | Missense | SNP | 0.522 | 2 | - | ND |
NKX2-6 | p.G279E | Missense | SNP | 0.265 | 2 | - | ND |
NKX3-2 | p.G233E | Missense | SNP | 0.296 | 2 | - | ND |
NKX6-1 | - | - | - | - | 1 | Loss | ND |
NKX6-2 | - | - | - | - | 1 | Loss | ND |
NLGN4X | p.R669Q | Missense | SNP | 0.561 | ND | ND | ND |
NLRC4 | p.D299N | Missense | SNP | 0.270 | 2 | - | ND |
NLRC5 | - | - | - | - | 1 | Loss | ND |
NLRP1 | p.D639N | Missense | SNP | 0.305 | 2 | - | ND |
NLRP11 | p.H117Y | Missense | SNP | 0.216 | 2 | - | ND |
NLRP13 | p.E1019K | Missense | SNP | 0.544 | 2 | - | ND |
NLRP3 | - | - | - | - | 3 | Gain | ND |
NLRP4 | p.P243L p.E482K | Missense Missense | SNP SNP | 0.484 0.269 | 2 | - | ND |
NLRP5 | p.G903E | Missense | SNP | 0.497 | 2 | - | ND |
NLRP8 | p.P11L p.L389F | Missense Missense | SNP SNP | 0.500 0.277 | 2 | - | ND |
NMB | - | - | - | - | 3 | Gain | ND |
NME7 | p.I344V | Missense | SNP | 0.156 | 3 | Gain | ND |
NME8 | - | - | - | - | 3 | Gain | ND |
NMNAT1 | - | - | - | - | 3 | Gain | ND |
NMNAT2 | - | - | - | - | 3 | Gain | ND |
NMT2 | - | - | - | - | 1 | Loss | ND |
NNT | p.S1044F | Missense | SNP | 0.451 | 3 | Gain | ND |
NOB1 | - | - | - | - | 1 | Loss | ND |
NOBOX | - | - | - | - | 3 | Gain | ND |
NOC2L | - | - | - | - | 3 | Gain | ND |
NOCT | - | - | - | - | 3 | Gain | ND |
NOD1 | - | - | - | - | 3 | Gain | ND |
NOD2 | - | - | - | - | 1 | Loss | ND |
NOL12 | - | - | - | - | 3 | Gain | ND |
NOL3 | - | - | - | - | 1 | Loss | ND |
NOL4 | p.E421K | Missense | SNP | 0.290 | 2 | - | ND |
NOL6 | - | - | - | - | 0 | Del | ND |
NOL9 | - | - | - | - | 3 | Gain | ND |
NOM1 | - | - | - | - | 3 | Gain | ND |
NOP14 | - | - | - | - | 3 | Gain | ND |
NOP2 | p.A719V p.S328F | Missense Missense | SNP SNP | 0.655 0.344 | 2 | - | ND |
NOS1AP | - | - | - | - | 3 | Gain | ND |
NOS2 | p.R740W p.G64E | Missense Missense | SNP SNP | 0.655 0.391 | 2 | - | ND |
NOS3 | p.D686N p.C853G | Missense Missense | SNP SNP | 0.213 0.200 | 3 | Gain | ND |
NOVA1 | p.G381E | Missense | SNP | 0.294 | 2 | - | ND |
NOX5 | - | - | - | - | 3 | Gain | ND |
NPAP1 | p.G89D p.P423L | Missense Missense | SNP SNP | 0.333 0.210 | 3 | Gain | ND |
NPC1L1 | - | - | - | - | 3 | Gain | ND |
NPHP1 | p.D162A | Missense | SNP | 0.415 | 2 | - | ND |
NPHP4 | p.P1157S | Missense | SNP | 0.669 | 3 | Gain | ND |
NPHS2 | p.M187I | Missense | SNP | 0.154 | 3 | Gain | ND |
NPIPB15 | - | - | - | - | 1 | Loss | ND |
NPL | - | - | - | - | 3 | Gain | ND |
NPNT | - | - | - | - | 1 | Loss | ND |
NPPA | - | - | - | - | 3 | Gain | ND |
NPPB | - | - | - | - | 3 | Gain | ND |
NPR1 | - | - | - | - | 3 | Gain | ND |
NPR2 | - | - | - | - | 1 | Loss | ND |
NPSR1 | - | - | - | - | 3 | Gain | ND |
NPTN | - | - | - | - | 3 | Gain | ND |
NPTX2 | - | - | - | - | 3 | Gain | ND |
NPTXR | p.X284_splice | Splice_Site | SNP | 0.330 | 3 | Gain | ND |
NPVF | - | - | - | - | 3 | Gain | ND |
NPY | - | - | - | - | 3 | Gain | ND |
NPY1R | p.G158S | Missense | SNP | 0.244 | 3 | Gain | ND |
NPY2R | p.D42N | Missense | SNP | 0.577 | 1 | Loss | ND |
NPY4R | - | - | - | - | 1 | Loss | ND |
NPY4R2 | - | - | - | - | 1 | Loss | ND |
NPY5R | - | - | - | - | 3 | Gain | ND |
NQO1 | - | - | - | - | 1 | Loss | ND |
NR0B2 | - | - | - | - | 3 | Gain | ND |
NR1I3 | - | - | - | - | 3 | Gain | ND |
NR2E3 | - | - | - | - | 1 | Loss | ND |
NR2F2 | - | - | - | - | 3 | Gain | ND |
NR3C2 | - | - | - | - | 3 | Gain | ND |
NR5A2 | - | - | - | - | 3 | Gain | ND |
NRAS | p.E62Q p.Q61R | Missense Missense | SNP SNP | 0.705 0.695 | 2 | - | ND |
NRCAM | - | - | - | - | 3 | Gain | ND |
NRF1 | - | - | - | - | 3 | Gain | ND |
NRG1 | p.G13D | Missense | SNP | 0.679 | 2 | - | ND |
NRG4 | - | - | - | - | 3 | Gain | ND |
NRK | p.E549T | Missense | DNP | 0.387 | ND | ND | ND |
NRN1L | - | - | - | - | 1 | Loss | ND |
NRP1 | - | - | - | - | 1 | Loss | ND |
NRXN1 | p.E139K | Missense | SNP | 0.476 | 2 | - | ND |
NRXN2 | p.P1604S | Missense | DNP | 0.621 | 2 | - | ND |
NSL1 | - | - | - | - | 3 | Gain | ND |
NSMCE3 | - | - | - | - | 3 | Gain | ND |
NSUN5 | - | - | - | - | 3 | Gain | ND |
NSUN6 | - | - | - | - | 1 | Loss | ND |
NT5C3A | - | - | - | - | 3 | Gain | ND |
NTPCR | - | - | - | - | 3 | Gain | ND |
NTRK1 | - | - | - | - | 3 | Gain | ND |
NTRK3 | p.R116W | Missense | SNP | 0.322 | 3 | Gain | ND |
NUAK2 | - | - | - | - | 3 | Gain | ND |
NUB1 | - | - | - | - | 3 | Gain | ND |
NUCKS1 | - | - | - | - | 3 | Gain | ND |
NUDC | - | - | - | - | 3 | Gain | ND |
NUDCD3 | - | - | - | - | 3 | Gain | ND |
NUDT1 | - | - | - | - | 3 | Gain | ND |
NUDT2 | - | - | - | - | 0 | Del | ND |
NUDT21 | - | - | - | - | 1 | Loss | ND |
NUDT5 | - | - | - | - | 1 | Loss | ND |
NUDT6 | - | - | - | - | 1 | Loss | ND |
NUDT7 | - | - | - | - | 1 | Loss | ND |
NUDT9 | p.M295I | Missense | SNP | 1.000 | 1 | Loss | ND |
NUF2 | - | - | - | - | 3 | Gain | ND |
NUP133 | - | - | - | - | 3 | Gain | ND |
NUP155 | - | - | - | - | 3 | Gain | ND |
NUP210L | p.R1559G | Missense | SNP | 0.823 | 3 | Gain | ND |
NUP54 | - | - | - | - | 1 | Loss | ND |
NUP62CL | p.Y166C | Missense | SNP | 0.441 | ND | ND | ND |
NUP88 | p.F69Y | Missense | SNP | 0.339 | 2 | - | ND |
NUP93 | - | - | - | - | 1 | Loss | ND |
NUPL2 | - | - | - | - | 3 | Gain | ND |
NUPR2 | - | - | - | - | 3 | Gain | ND |
NUTF2 | - | - | - | - | 1 | Loss | ND |
NUTM1 | p.P77L | Missense | SNP | 0.330 | 2 | - | ND |
NVL | - | - | - | - | 3 | Gain | ND |
NWD2 | p.R42W p.W1169* | Missense Nonsense | SNP SNP | 0.209 0.227 | 2 | - | ND |
NXF5 | p.R320Q | Missense | SNP | 0.551 | ND | ND | ND |
NXPH1 | p.S228F | Missense | SNP | 0.292 | 3 | Gain | ND |
NXPH3 | p.G289R | Missense | SNP | 0.342 | 2 | - | ND |
NYAP1 | - | - | - | - | 3 | Gain | ND |
NYAP2 | p.P340S | Missense | SNP | 0.299 | 2 | - | ND |
OAZ2 | - | - | - | - | 3 | Gain | ND |
OBSCN | - | - | - | - | 3 | Gain | ND |
OCA2 | - | - | - | - | 3 | Gain | ND |
OCLM | - | - | - | - | 3 | Gain | ND |
OCM | - | - | - | - | 3 | Gain | ND |
OCM2 | - | - | - | - | 3 | Gain | ND |
ODAM | p.G102E | Missense | SNP | 0.297 | 2 | - | ND |
ODAPH | - | - | - | - | 1 | Loss | ND |
ODF3L1 | - | - | - | - | 3 | Gain | ND |
ODR4 | - | - | - | - | 3 | Gain | ND |
OGDH | - | - | - | - | 3 | Gain | ND |
OGDHL | - | - | - | - | 1 | Loss | ND |
OGFOD1 | - | - | - | - | 1 | Loss | ND |
OLAH | - | - | - | - | 1 | Loss | ND |
OLFML2B | p.G27E | Missense | SNP | 0.187 | 3 | Gain | ND |
ONECUT1 | - | - | - | - | 3 | Gain | ND |
OPN1SW | - | - | - | - | 3 | Gain | ND |
OPN3 | - | - | - | - | 3 | Gain | ND |
OPRD1 | - | - | - | - | 3 | Gain | ND |
OPRK1 | p.A308V | Missense | SNP | 0.240 | 2 | - | ND |
OPTC | - | - | - | - | 3 | Gain | ND |
OPTN | - | - | - | - | 1 | Loss | ND |
OR10A3 | p.M136I | Missense | SNP | 0.638 | 2 | - | ND |
OR10J1 | - | - | - | - | 3 | Gain | ND |
OR10J3 | p.S149L | Missense | SNP | 0.185 | 3 | Gain | ND |
OR10J5 | - | - | - | - | 3 | Gain | ND |
OR10K1 | - | - | - | - | 3 | Gain | ND |
OR10K2 | - | - | - | - | 3 | Gain | ND |
OR10R2 | - | - | - | - | 3 | Gain | ND |
OR10T2 | - | - | - | - | 3 | Gain | ND |
OR10X1 | - | - | - | - | 3 | Gain | ND |
OR10Z1 | - | - | - | - | 3 | Gain | ND |
OR11L1 | - | - | - | - | 3 | Gain | ND |
OR13A1 | - | - | - | - | 1 | Loss | ND |
OR13C3 | p.A335T p.D24N | Missense Missense | SNP SNP | 0.605 0.642 | 2 | - | ND |
OR13C5 | p.M185I | Missense | SNP | 0.996 | 2 | - | ND |
OR13C7 | p.G235E | Missense | SNP | 1.000 | ND | ND | ND |
OR13G1 | - | - | - | - | 3 | Gain | ND |
OR13J1 | - | - | - | - | 1 | Loss | ND |
OR14A16 | p.S79F | Missense | SNP | 0.360 | 3 | Gain | ND |
OR14A2 | p.S104F | Missense | SNP | 0.198 | 3 | Gain | ND |
OR14C36 | p.G39E | Missense | SNP | 0.190 | 3 | Gain | ND |
OR14I1 | - | - | - | - | 3 | Gain | ND |
OR14J1 | p.S65F | Missense | SNP | 0.655 | 2 | - | ND |
OR14K1 | - | - | - | - | 3 | Gain | ND |
OR1C1 | - | - | - | - | 3 | Gain | ND |
OR1E2 | p.R50* | Nonsense | SNP | 0.331 | 2 | - | ND |
OR1F1 | p.G147R | Missense | SNP | 0.594 | 2 | - | ND |
OR1L4 | p.D71N | Missense | SNP | 0.695 | 2 | - | ND |
OR2AE1 | - | - | - | - | 3 | Gain | ND |
OR2AJ1 | - | - | - | - | 3 | Gain | ND |
OR2AK2 | - | - | - | - | 3 | Gain | ND |
OR2B11 | - | - | - | - | 3 | Gain | ND |
OR2B6 | p.C76* | Nonsense | DNP | 0.315 | 2 | - | ND |
OR2C3 | - | - | - | - | 3 | Gain | ND |
OR2G2 | - | - | - | - | 3 | Gain | ND |
OR2G3 | p.L27F | Missense | SNP | 0.779 | 3 | Gain | ND |
OR2G6 | - | - | - | - | 3 | Gain | ND |
OR2J2 | p.E197K | Missense | SNP | 0.653 | 2 | - | ND |
OR2L13 | p.S92F | Missense | SNP | 0.176 | 3 | Gain | ND |
OR2L2 | - | - | - | - | 3 | Gain | ND |
OR2L3 | - | - | - | - | 3 | Gain | ND |
OR2L5 | - | - | - | - | 3 | Gain | ND |
OR2L8 | - | - | - | - | 3 | Gain | ND |
OR2M2 | - | - | - | - | 3 | Gain | ND |
OR2M3 | - | - | - | - | 3 | Gain | ND |
OR2M4 | - | - | - | - | 3 | Gain | ND |
OR2M5 | - | - | - | - | 3 | Gain | ND |
OR2M7 | - | - | - | - | 3 | Gain | ND |
OR2S2 | - | - | - | - | 1 | Loss | ND |
OR2T1 | - | - | - | - | 3 | Gain | ND |
OR2T10 | - | - | - | - | 3 | Gain | ND |
OR2T11 | - | - | - | - | 3 | Gain | ND |
OR2T12 | - | - | - | - | 3 | Gain | ND |
OR2T2 | - | - | - | - | 3 | Gain | ND |
OR2T27 | - | - | - | - | 3 | Gain | ND |
OR2T29 | - | - | - | - | 3 | Gain | ND |
OR2T3 | - | - | - | - | 3 | Gain | ND |
OR2T33 | - | - | - | - | 3 | Gain | ND |
OR2T34 | - | - | - | - | 3 | Gain | ND |
OR2T35 | - | - | - | - | 3 | Gain | ND |
OR2T4 | - | - | - | - | 3 | Gain | ND |
OR2T5 | - | - | - | - | 3 | Gain | ND |
OR2T6 | - | - | - | - | 3 | Gain | ND |
OR2T8 | - | - | - | - | 3 | Gain | ND |
OR2V1 | - | - | - | - | 1 | Loss | ND |
OR2V2 | - | - | - | - | 1 | Loss | ND |
OR2W3 | - | - | - | - | 3 | Gain | ND |
OR4A15 | p.M31I | Missense | SNP | 0.662 | 2 | - | ND |
OR4C12 | p.S74F | Missense | SNP | 0.442 | 2 | - | ND |
OR4C15 | p.P337L | Missense | SNP | 0.665 | 2 | - | ND |
OR4C16 | p.D266N | Missense | SNP | 0.278 | 2 | - | ND |
OR4C6 | p.L84F | Missense | SNP | 0.323 | 2 | - | ND |
OR4F15 | - | - | - | - | 3 | Gain | ND |
OR4F4 | - | - | - | - | 3 | Gain | ND |
OR4F5 | - | - | - | - | 3 | Gain | ND |
OR4F6 | - | - | - | - | 3 | Gain | ND |
OR4K17 | p.G11D | Missense | SNP | 0.367 | 2 | - | ND |
OR4L1 | p.W149* | Nonsense | SNP | 0.290 | 2 | - | ND |
OR4M2 | - | - | - | - | 3 | Gain | ND |
OR4N2 | p.G41E | Missense | SNP | 0.390 | 2 | - | ND |
OR4N4 | - | - | - | - | 3 | Gain | ND |
OR51A2 | p.P131L | Missense | SNP | 1.000 | 2 | - | ND |
OR51B5 | p.P287S | Missense | SNP | 0.672 | 2 | - | ND |
OR51F2 | p.R136C | Missense | SNP | 0.674 | 2 | - | ND |
OR51T1 | p.L231F | Missense | SNP | 0.627 | 2 | - | ND |
OR52J3 | p.G185S | Missense | SNP | 0.314 | 2 | - | ND |
OR52N5 | p.M165I | Missense | SNP | 1.000 | 2 | - | ND |
OR56A1 | p.L169F | Missense | SNP | 0.620 | 2 | - | ND |
OR5B12 | p.L64F | Missense | SNP | 0.297 | 2 | - | ND |
OR5B17 | p.E109K | Missense | SNP | 0.305 | 2 | - | ND |
OR5H1 | p.L256F | Missense | SNP | 0.255 | 2 | - | ND |
OR5H6 | p.S119F | Missense | SNP | 0.475 | 2 | - | ND |
OR5J2 | p.S217F | Missense | SNP | 0.382 | 2 | - | ND |
OR6C3 | p.G270E | Missense | SNP | 0.340 | 2 | - | ND |
OR6F1 | p.S217F | Missense | SNP | 0.821 | 3 | Gain | ND |
OR6K2 | - | - | - | - | 3 | Gain | ND |
OR6K3 | - | - | - | - | 3 | Gain | ND |
OR6K6 | p.C177R | Missense | SNP | 0.174 | 3 | Gain | ND |
OR6N1 | - | - | - | - | 3 | Gain | ND |
OR6N2 | - | - | - | - | 3 | Gain | ND |
OR6P1 | - | - | - | - | 3 | Gain | ND |
OR6Y1 | - | - | - | - | 3 | Gain | ND |
OR7A5 | p.S223F | Missense | SNP | 0.494 | 2 | - | ND |
OR8B2 | p.S7F | Missense | SNP | 0.233 | 2 | - | ND |
OR8S1 | p.S183F | Missense | SNP | 0.664 | 2 | - | ND |
ORAI2 | - | - | - | - | 3 | Gain | ND |
ORC5 | - | - | - | - | 3 | Gain | ND |
ORC6 | - | - | - | - | 1 | Loss | ND |
OSBP2 | - | - | - | - | 3 | Gain | ND |
OSBPL3 | - | - | - | - | 3 | Gain | ND |
OSBPL9 | p.G7R | Missense | SNP | 0.749 | 2 | - | ND |
OSCP1 | - | - | - | - | 3 | Gain | ND |
OSER1 | p.P250L | Missense | SNP | 0.500 | 2 | - | ND |
OSGIN1 | - | - | - | - | 1 | Loss | ND |
OSM | - | - | - | - | 3 | Gain | ND |
OSMR | - | - | - | - | 3 | Gain | ND |
OSTC | - | - | - | - | 1 | Loss | ND |
OTOF | p.G524E | Missense | SNP | 0.193 | 2 | - | ND |
OTOGL | p.R1610K | Missense | SNP | 0.705 | 2 | - | ND |
OTOL1 | p.M261I | Missense | SNP | 0.240 | 2 | - | ND |
OTUD1 | - | - | - | - | 1 | Loss | ND |
OTUD3 | - | - | - | - | 3 | Gain | ND |
OTUD4 | - | - | - | - | 3 | Gain | ND |
OTUD7B | p.G190E | Missense | SNP | 0.753 | 2 | - | ND |
OXCT1 | - | - | - | - | 3 | Gain | ND |
OXER1 | p.G289N | Missense | DNP | 0.567 | 2 | - | ND |
OXSR1 | p.S367L | Missense | SNP | 0.480 | 2 | - | ND |
P2RX6 | - | - | - | - | 3 | Gain | ND |
PABPC4L | p.P361L | Missense | SNP | 0.476 | 3 | Gain | ND |
PABPC5 | p.F89S | Missense | SNP | 0.556 | ND | ND | ND |
PABPN1 | - | - | - | - | 1 | Loss | ND |
PABPN1L | - | - | - | - | 1 | Loss | ND |
PACS2 | p.P550S | Missense | SNP | 0.347 | 2 | - | ND |
PADI1 | - | - | - | - | 3 | Gain | ND |
PADI2 | - | - | - | - | 3 | Gain | ND |
PADI3 | - | - | - | - | 3 | Gain | ND |
PADI4 | - | - | - | - | 3 | Gain | ND |
PADI6 | p.E560K | Missense | SNP | 0.311 | 3 | Gain | ND |
PAFAH2 | - | - | - | - | 3 | Gain | ND |
PAIP1 | - | - | - | - | 3 | Gain | ND |
PAK1 | p.D332N | Missense | SNP | 0.289 | 2 | - | ND |
PALLD | - | - | - | - | 3 | Gain | ND |
PANK4 | - | - | - | - | 3 | Gain | ND |
PANX3 | p.G22R | Missense | SNP | 0.309 | 2 | - | ND |
PAOX | - | - | - | - | 1 | Loss | ND |
PAPOLA | p.K689R | Missense | SNP | 0.217 | 2 | - | ND |
PAPOLB | - | - | - | - | 3 | Gain | ND |
PAPPA2 | p.H1546Y | Missense | SNP | 0.168 | 3 | Gain | ND |
PAPSS1 | - | - | - | - | 1 | Loss | ND |
PAQR3 | - | - | - | - | 1 | Loss | ND |
PAQR5 | - | - | - | - | 3 | Gain | ND |
PAQR6 | - | - | - | - | 3 | Gain | ND |
PAQR7 | - | - | - | - | 3 | Gain | ND |
PAQR9 | p.Q338* | Nonsense | SNP | 0.474 | 2 | - | ND |
PARD3 | - | - | - | - | 1 | Loss | ND |
PARD6A | - | - | - | - | 1 | Loss | ND |
PARG | - | - | - | - | 1 | Loss | ND |
PARK7 | - | - | - | - | 3 | Gain | ND |
PARP1 | - | - | - | - | 3 | Gain | ND |
PARP12 | p.P153L | Missense | DNP | 0.228 | ND | ND | ND |
PARP16 | - | - | - | - | 3 | Gain | ND |
PARP6 | - | - | - | - | 3 | Gain | ND |
PARP8 | - | - | - | - | 3 | Gain | ND |
PASK | p.L675V | Missense | SNP | 0.259 | 2 | - | ND |
PATZ1 | - | - | - | - | 3 | Gain | ND |
PAX4 | - | - | - | - | 3 | Gain | ND |
PAX5 | - | - | - | - | 1 | Loss | ND |
PAX7 | - | - | - | - | 3 | Gain | ND |
PAX8 | p.P321L | Missense | SNP | 0.453 | 2 | - | ND |
PAXIP1 | - | - | - | - | 3 | Gain | ND |
PBX1 | p.S278F | Missense | SNP | 0.207 | 3 | Gain | ND |
PBXIP1 | - | - | - | - | 3 | Gain | ND |
PCDH1 | p.S290F | Missense | SNP | 0.641 | 2 | - | ND |
PCDH10 | - | - | - | - | 3 | Gain | ND |
PCDH15 | p.S1902L | Missense | SNP | 1.000 | 1 | Loss | ND |
PCDH17 | p.E1137K | Missense | SNP | 0.604 | 2 | - | ND |
PCDH18 | - | - | - | - | 3 | Gain | ND |
PCDH19 | p.S809C | Missense | SNP | 1.000 | ND | ND | ND |
PCDHA11 | p.D344N | Missense | SNP | 0.293 | 2 | - | ND |
PCDHA2 | p.E301K | Missense | SNP | 0.323 | 2 | - | ND |
PCDHA4 | p.R428Q | Missense | SNP | 0.680 | 2 | - | ND |
PCDHA8 | p.D378N | Missense | SNP | 0.343 | 2 | - | ND |
PCDHA9 | p.S619N p.E902K | Missense Missense | SNP SNP | 0.338 0.242 | 2 | - | ND |
PCDHB11 | p.R407K | Missense | SNP | 0.291 | 2 | - | ND |
PCDHB13 | p.G526E | Missense | SNP | 0.421 | 2 | - | ND |
PCDHB15 | p.D342N | Missense | SNP | 0.325 | 2 | - | ND |
PCDHB16 | p.G224E | Missense | SNP | 0.648 | 2 | - | ND |
PCDHB3 | p.D51N p.H283Y | Missense Missense | SNP SNP | 0.348 0.632 | 2 | - | ND |
PCDHB5 | p.E144K | Missense | SNP | 0.249 | 2 | - | ND |
PCDHB9 | p.S130L | Missense | SNP | 0.272 | 2 | - | ND |
PCDHGA8 | p.Q647* | Nonsense | SNP | 0.384 | 2 | - | ND |
PCDHGB1 | p.E307K | Missense | SNP | 0.709 | 2 | - | ND |
PCDHGB4 | p.S137F | Missense | SNP | 0.625 | 2 | - | ND |
PCLAF | - | - | - | - | 3 | Gain | ND |
PCLO | p.K2611R p.K1289N p.A967V | Missense Missense Missense | SNP SNP SNP | 0.640 0.306 0.318 | 4 | Gain | ND |
PCNX1 | p.R2139W | Missense | DNP | 0.338 | 2 | - | ND |
PCNX2 | p.K1685E p.A1428V | Missense Missense | SNP SNP | 0.816 0.314 | 3 | Gain | ND |
PCOLCE | - | - | - | - | 3 | Gain | ND |
PCP2 | p.E9K | Missense | SNP | 0.481 | 2 | - | ND |
PCP4L1 | - | - | - | - | 3 | Gain | ND |
PCSK6 | - | - | - | - | 3 | Gain | ND |
PCSK9 | p.E211K | Missense | SNP | 0.206 | 2 | - | ND |
PCYT1A | p.R326H | Missense | SNP | 0.412 | 2 | - | ND |
PDAP1 | - | - | - | - | 3 | Gain | ND |
PDC | - | - | - | - | 3 | Gain | ND |
PDCD1LG2 | - | - | - | - | 0 | Del | ND |
PDCD7 | - | - | - | - | 3 | Gain | ND |
PDE1C | p.E594K | Missense | SNP | 0.188 | 3 | Gain | ND |
PDE3A | p.D1017N | Missense | SNP | 0.290 | 2 | - | ND |
PDE4D | - | - | - | - | 3 | Gain | ND |
PDE5A | - | - | - | - | 1 | Loss | ND |
PDE7B | p.R86C | Missense | SNP | 0.280 | 2 | - | ND |
PDE8A | - | - | - | - | 3 | Gain | ND |
- | - | - | - | 1 | Loss | ND | |
PDGFA | - | - | - | - | 3 | Gain | ND |
PDGFB | p.M93I | Missense | SNP | 0.312 | 3 | Gain | ND |
PDGFC | - | - | - | - | 3 | Gain | ND |
PDHA2 | - | - | - | - | 1 | Loss | ND |
PDIA4 | - | - | - | - | 3 | Gain | ND |
PDIK1L | - | - | - | - | 3 | Gain | ND |
PDK4 | - | - | - | - | 3 | Gain | ND |
PDLIM3 | - | - | - | - | 3 | Gain | ND |
PDLIM5 | - | - | - | - | 1 | Loss | ND |
PDP2 | - | - | - | - | 1 | Loss | ND |
PDPN | - | - | - | - | 3 | Gain | ND |
PDPR | - | - | - | - | 1 | Loss | ND |
PDSS1 | - | - | - | - | 1 | Loss | ND |
PDXP | - | - | - | - | 3 | Gain | ND |
PDZD2 | p.D79N p.P913L | Missense Missense | SNP SNP | 0.513 0.435 | 3 | Gain | ND |
PEA15 | - | - | - | - | 3 | Gain | ND |
PEAK1 | - | - | - | - | 3 | Gain | ND |
PEAR1 | - | - | - | - | 3 | Gain | ND |
PEG10 | - | - | - | - | 4 | Gain | ND |
PEG3 | p.R963C | Missense | SNP | 0.267 | 2 | - | ND |
PELI3 | p.P170F | Missense | DNP | 0.279 | 2 | - | ND |
PELO | - | - | - | - | 3 | Gain | ND |
PELP1 | p.A678V | Missense | SNP | 0.283 | 2 | - | ND |
PENK | p.E162K | Missense | SNP | 0.224 | 2 | - | ND |
PER3 | p.D1208N | Missense | SNP | 0.700 | 3 | Gain | ND |
PERM1 | - | - | - | - | 3 | Gain | ND |
PES1 | - | - | - | - | 3 | Gain | ND |
PEX1 | - | - | - | - | 4 | Gain | ND |
PEX10 | - | - | - | - | 3 | Gain | ND |
PEX11A | - | - | - | - | 3 | Gain | ND |
PEX14 | - | - | - | - | 3 | Gain | ND |
PEX19 | - | - | - | - | 3 | Gain | ND |
PEX26 | - | - | - | - | 3 | Gain | ND |
PEX5L | p.D281N | Missense | SNP | 0.239 | 2 | - | ND |
PFDN2 | - | - | - | - | 3 | Gain | ND |
PFKFB2 | - | - | - | - | 3 | Gain | ND |
PFKFB3 | - | - | - | - | 1 | Loss | ND |
PFKP | - | - | - | - | 1 | Loss | ND |
PGAM2 | - | - | - | - | 3 | Gain | ND |
PGBD2 | - | - | - | - | 3 | Gain | ND |
PGBD5 | - | - | - | - | 3 | Gain | ND |
PGD | - | - | - | - | 3 | Gain | ND |
PGLYRP3 | - | - | - | - | 3 | Gain | ND |
PGLYRP4 | - | - | - | - | 3 | Gain | ND |
PGPEP1L | - | - | - | - | 3 | Gain | ND |
PGRMC2 | - | - | - | - | 3 | Gain | ND |
PHACTR4 | - | - | - | - | 3 | Gain | ND |
PHC2 | - | - | - | - | 3 | Gain | ND |
PHF13 | - | - | - | - | 3 | Gain | ND |
PHF14 | - | - | - | - | 3 | Gain | ND |
PHF21B | p.Q297* | Nonsense | SNP | 0.193 | 2 | - | ND |
PHF24 | - | - | - | - | 1 | Loss | ND |
PHIP | p.P808L p.L590S | Missense Missense | DNP SNP | 0.670 0.683 | 2 | - | ND |
PHKB | - | - | - | - | 1 | Loss | ND |
PHKG1 | - | - | - | - | 3 | Gain | ND |
PHLDA3 | - | - | - | - | 3 | Gain | ND |
PHLPP2 | - | - | - | - | 1 | Loss | ND |
PHTF2 | - | - | - | - | 4 | Gain | ND |
PHYH | - | - | - | - | 1 | Loss | ND |
PHYHIPL | - | - | - | - | 1 | Loss | ND |
PI4KA | - | - | - | - | 3 | Gain | ND |
PIAS1 | - | - | - | - | 3 | Gain | ND |
PICK1 | - | - | - | - | 3 | Gain | ND |
PIEZO1 | - | - | - | - | 1 | Loss | ND |
PIF1 | - | - | - | - | 3 | Gain | ND |
PIGB | - | - | - | - | 3 | Gain | ND |
PIGC | - | - | - | - | 3 | Gain | ND |
PIGL | p.C177G | Missense | SNP | 0.279 | 2 | - | ND |
PIGM | - | - | - | - | 3 | Gain | ND |
PIGO | - | - | - | - | 1 | Loss | ND |
PIGR | - | - | - | - | 3 | Gain | ND |
PIGV | - | - | - | - | 3 | Gain | ND |
PIGY | - | - | - | - | 1 | Loss | ND |
PIK3C2A | p.P748S | Missense | SNP | 0.297 | 2 | - | ND |
PIK3C2B | - | - | - | - | 3 | Gain | ND |
PIK3C2G | p.R378* | Nonsense | SNP | 0.629 | 2 | - | ND |
PIK3CD | - | - | - | - | 3 | Gain | ND |
PIK3CG | - | - | - | - | 3 | Gain | ND |
PIK3IP1 | - | - | - | - | 3 | Gain | ND |
PILRA | - | - | - | - | 3 | Gain | ND |
PILRB | - | - | - | - | 3 | Gain | ND |
PINK1 | - | - | - | - | 3 | Gain | ND |
PINLYP | p.S106F | Missense | SNP | 0.221 | 2 | - | ND |
PIP4K2A | - | - | - | - | 1 | Loss | ND |
PISD | - | - | - | - | 3 | Gain | ND |
PITHD1 | - | - | - | - | 3 | Gain | ND |
PITPNB | - | - | - | - | 3 | Gain | ND |
PITRM1 | - | - | - | - | 1 | Loss | ND |
PITX2 | - | - | - | - | 1 | Loss | ND |
PIWIL3 | - | - | - | - | 3 | Gain | ND |
PKD1L1 | - | - | - | - | 3 | Gain | ND |
PKD1L2 | - | - | - | - | 1 | Loss | ND |
PKD1L3 | - | - | - | - | 1 | Loss | ND |
PKD2 | - | - | - | - | 1 | Loss | ND |
PKDREJ | p.S1334F | Missense | SNP | 0.211 | 3 | Gain | ND |
PKHD1L1 | p.Q763* p.S2910L p.V3182I | Nonsense Missense Missense | SNP SNP SNP | 0.519 0.289 0.424 | 2 | - | ND |
PKLR | - | - | - | - | 3 | Gain | ND |
PKM | - | - | - | - | 3 | Gain | ND |
PKP1 | - | - | - | - | 3 | Gain | ND |
PKP3 | p.R253Q | Missense | SNP | 0.364 | 2 | - | ND |
PLA2G12A | - | - | - | - | 1 | Loss | ND |
PLA2G15 | - | - | - | - | 1 | Loss | ND |
PLA2G2A | - | - | - | - | 3 | Gain | ND |
PLA2G2C | - | - | - | - | 3 | Gain | ND |
PLA2G2D | - | - | - | - | 3 | Gain | ND |
PLA2G2E | - | - | - | - | 3 | Gain | ND |
PLA2G2F | - | - | - | - | 3 | Gain | ND |
PLA2G3 | - | - | - | - | 3 | Gain | ND |
PLA2G4A | - | - | - | - | 3 | Gain | ND |
PLA2G5 | - | - | - | - | 3 | Gain | ND |
PLA2G6 | - | - | - | - | 3 | Gain | ND |
PLAA | - | - | - | - | 0 | Del | ND |
PLAC8 | - | - | - | - | 1 | Loss | ND |
PLBD2 | p.P203S | Missense | SNP | 0.372 | 2 | - | ND |
PLCB1 | p.E1130K | Missense | SNP | 0.460 | 2 | - | ND |
PLCB4 | p.G876E | Missense | SNP | 0.412 | 2 | - | ND |
PLCG2 | - | - | - | - | 1 | Loss | ND |
PLCH2 | - | - | - | - | 3 | Gain | ND |
PLCXD3 | - | - | - | - | 3 | Gain | ND |
PLCZ1 | p.E538K p.G302E p.S167L p.S81F p.G17E | Missense Missense Missense Missense Missense | SNP SNP SNP SNP SNP | 0.420 0.673 0.403 0.603 0.339 | 2 | - | ND |
PLD5 | - | - | - | - | 3 | Gain | ND |
PLEKHA6 | - | - | - | - | 3 | Gain | ND |
PLEKHA8 | - | - | - | - | 3 | Gain | ND |
PLEKHD1 | p.W139* p.L250H | Nonsense Missense | SNP SNP | 0.340 0.283 | 2 | - | ND |
PLEKHG2 | p.P447L | Missense | SNP | 0.299 | 2 | - | ND |
PLEKHG4 | - | - | - | - | 1 | Loss | ND |
PLEKHG5 | - | - | - | - | 3 | Gain | ND |
PLEKHG7 | p.E29K | Missense | SNP | 0.315 | 2 | - | ND |
PLEKHH2 | p.R16Q | Missense | SNP | 0.261 | 2 | - | ND |
PLEKHM2 | - | - | - | - | 3 | Gain | ND |
PLEKHN1 | - | - | - | - | 3 | Gain | ND |
PLEKHO2 | - | - | - | - | 3 | Gain | ND |
PLG | p.S632F | Missense | SNP | 0.650 | 2 | - | ND |
PLGRKT | - | - | - | - | 0 | Del | ND |
PLIN1 | - | - | - | - | 3 | Gain | ND |
PLIN2 | - | - | - | - | 0 | Del | ND |
PLK2 | - | - | - | - | 3 | Gain | ND |
PLK4 | - | - | - | - | 3 | Gain | ND |
PLLP | - | - | - | - | 1 | Loss | ND |
PLOD1 | - | - | - | - | 3 | Gain | ND |
PLOD3 | - | - | - | - | 3 | Gain | ND |
PLPP1 | - | - | - | - | 3 | Gain | ND |
PLPP6 | - | - | - | - | 0 | Del | ND |
PLRG1 | - | - | - | - | 1 | Loss | ND |
PLXDC2 | - | - | - | - | 1 | Loss | ND |
PLXNA2 | - | - | - | - | 3 | Gain | ND |
PLXNA4 | - | - | - | - | 3 | Gain | ND |
PLXNB3 | p.E1321K | Missense | SNP | 1.000 | ND | ND | ND |
PM20D1 | - | - | - | - | 3 | Gain | ND |
PMF1 | - | - | - | - | 3 | Gain | ND |
PMF1-BGLAP | - | - | - | - | 3 | Gain | ND |
PMFBP1 | - | - | - | - | 1 | Loss | ND |
PML | p.V657M | Missense | DNP | 0.528 | 3 | Gain | ND |
PMPCB | - | - | - | - | 3 | Gain | ND |
PMS2 | - | - | - | - | 3 | Gain | ND |
PMVK | - | - | - | - | 3 | Gain | ND |
PNLIP | p.P225H | Missense | SNP | 0.371 | 2 | - | ND |
PNMAL2 | p.E81K | Missense | SNP | 0.242 | ND | ND | ND |
PNPLA2 | p.P497L | Missense | SNP | 0.590 | 2 | - | ND |
PNPLA8 | - | - | - | - | 3 | Gain | ND |
PNRC2 | - | - | - | - | 3 | Gain | ND |
PODXL | - | - | - | - | 3 | Gain | ND |
POFUT1 | p.S357F | Missense | SNP | 0.238 | 2 | - | ND |
POGK | - | - | - | - | 3 | Gain | ND |
POLD2 | - | - | - | - | 3 | Gain | ND |
POLG | - | - | - | - | 3 | Gain | ND |
POLM | - | - | - | - | 3 | Gain | ND |
POLN | p.S771F p.P279L | Missense Missense | DNP SNP | 0.570 0.503 | 2 | - | ND |
POLR1E | p.R272C | Missense | DNP | 1.000 | 1 | Loss | ND |
POLR2A | p.G424S | Missense | SNP | 0.338 | 2 | - | ND |
POLR2C | - | - | - | - | 1 | Loss | ND |
POLR2F | - | - | - | - | 3 | Gain | ND |
POLR2J | - | - | - | - | 3 | Gain | ND |
POLR2J2 | - | - | - | - | 3 | Gain | ND |
POLR2J3 | - | - | - | - | 3 | Gain | ND |
POLR2K | p.R51K | Missense | SNP | 0.368 | 2 | - | ND |
POLR2M | - | - | - | - | 3 | Gain | ND |
POLR3E | p.S93F | Missense | SNP | 0.289 | 2 | - | ND |
POM121 | - | - | - | - | 3 | Gain | ND |
POM121C | - | - | - | - | 3 | Gain | ND |
POM121L12 | - | - | - | - | 3 | Gain | ND |
POM121L2 | p.G682R | Missense | SNP | 0.269 | 2 | - | ND |
POMZP3 | - | - | - | - | 4 | Gain | ND |
PON1 | - | - | - | - | 3 | Gain | ND |
PON2 | - | - | - | - | 3 | Gain | ND |
PON3 | - | - | - | - | 3 | Gain | ND |
POP7 | - | - | - | - | 3 | Gain | ND |
POR | - | - | - | - | 3 | Gain | ND |
POT1 | - | - | - | - | 3 | Gain | ND |
POTEB | - | - | - | - | 3 | Gain | ND |
POTEB2 | - | - | - | - | 3 | Gain | ND |
POU2F1 | - | - | - | - | 3 | Gain | ND |
POU4F2 | - | - | - | - | 3 | Gain | ND |
POU6F2 | - | - | - | - | 3 | Gain | ND |
PPA2 | - | - | - | - | 1 | Loss | ND |
PPARA | - | - | - | - | 3 | Gain | ND |
PPCDC | - | - | - | - | 3 | Gain | ND |
PPEF2 | - | - | - | - | 1 | Loss | ND |
PPFIA4 | - | - | - | - | 3 | Gain | ND |
PPIA | - | - | - | - | 3 | Gain | ND |
PPIB | - | - | - | - | 3 | Gain | ND |
PPIC | p.E68K | Missense | SNP | 0.657 | 2 | - | ND |
PPID | - | - | - | - | 3 | Gain | ND |
PPIL2 | - | - | - | - | 3 | Gain | ND |
PPM1F | - | - | - | - | 3 | Gain | ND |
PPM1K | - | - | - | - | 1 | Loss | ND |
PPOX | - | - | - | - | 3 | Gain | ND |
PPP1R12B | - | - | - | - | 3 | Gain | ND |
PPP1R13L | p.P371L | Missense | SNP | 0.319 | 2 | - | ND |
PPP1R15B | - | - | - | - | 3 | Gain | ND |
PPP1R17 | - | - | - | - | 3 | Gain | ND |
PPP1R35 | - | - | - | - | 3 | Gain | ND |
PPP1R3A | - | - | - | - | 3 | Gain | ND |
PPP1R3E | - | - | - | - | 1 | Loss | ND |
PPP1R8 | - | - | - | - | 3 | Gain | ND |
PPP1R9A | - | - | - | - | 3 | Gain | ND |
PPP2R5A | - | - | - | - | 3 | Gain | ND |
PPP3CA | - | - | - | - | 1 | Loss | ND |
PQLC2 | - | - | - | - | 3 | Gain | ND |
PRAME | p.P171L | Missense | SNP | 0.218 | 3 | Gain | ND |
PRAMEF1 | - | - | - | - | 3 | Gain | ND |
PRAMEF12 | - | - | - | - | 3 | Gain | ND |
PRAMEF14 | p.E250K | Missense | SNP | 0.363 | ND | ND | ND |
PRAMEF18 | - | - | - | - | 3 | Gain | ND |
PRAMEF19 | - | - | - | - | 3 | Gain | ND |
PRAMEF2 | - | - | - | - | 3 | Gain | ND |
PRAMEF20 | - | - | - | - | 3 | Gain | ND |
PRAP1 | - | - | - | - | 1 | Loss | ND |
PRC1 | - | - | - | - | 3 | Gain | ND |
PRCC | - | - | - | - | 3 | Gain | ND |
PRDM14 | p.R430K | Missense | SNP | 0.268 | 2 | - | ND |
PRDM16 | - | - | - | - | 3 | Gain | ND |
PRDM2 | - | - | - | - | 3 | Gain | ND |
PRDM5 | - | - | - | - | 1 | Loss | ND |
PRDM6 | p.S524F | Missense | SNP | 0.664 | 2 | - | ND |
PRDM7 | - | - | - | - | 1 | Loss | ND |
PRDM8 | - | - | - | - | 1 | Loss | ND |
PRDM9 | - | - | - | - | 3 | Gain | ND |
PRDX6 | - | - | - | - | 3 | Gain | ND |
PRELP | p.E76K | Missense | SNP | 0.188 | 3 | Gain | ND |
PREX2 | p.D1049N | Missense | SNP | 0.453 | 2 | - | ND |
PRG4 | - | - | - | - | 3 | Gain | ND |
PRIMPOL | - | - | - | - | 3 | Gain | ND |
PRKAA1 | - | - | - | - | 3 | Gain | ND |
PRKAG2 | - | - | - | - | 3 | Gain | ND |
PRKAR1B | - | - | - | - | 3 | Gain | ND |
PRKAR2B | - | - | - | - | 3 | Gain | ND |
PRKCB | p.D484N | Missense | SNP | 0.182 | 2 | - | ND |
PRKCG | p.G358R | Missense | SNP | 0.209 | 2 | - | ND |
PRKCQ | - | - | - | - | 1 | Loss | ND |
PRKCZ | - | - | - | - | 3 | Gain | ND |
PRKG1 | - | - | - | - | 1 | Loss | ND |
PRKG2 | - | - | - | - | 1 | Loss | ND |
PRKRIP1 | - | - | - | - | 3 | Gain | ND |
PRMT7 | - | - | - | - | 1 | Loss | ND |
PRMT9 | - | - | - | - | 3 | Gain | ND |
PRODH | - | - | - | - | 3 | Gain | ND |
PROSER2 | - | - | - | - | 1 | Loss | ND |
PROX1 | - | - | - | - | 3 | Gain | ND |
PRPF18 | - | - | - | - | 1 | Loss | ND |
PRPF6 | p.L930F | Missense | SNP | 0.424 | 2 | - | ND |
PRPS1L1 | - | - | - | - | 3 | Gain | ND |
PRR14L | - | - | - | - | 3 | Gain | ND |
PRR15 | - | - | - | - | 3 | Gain | ND |
PRR23A | p.E81K | Missense | SNP | 0.237 | 2 | - | ND |
PRR26 | - | - | - | - | 1 | Loss | ND |
PRR30 | p.P189F | Missense | DNP | 0.465 | 2 | - | ND |
PRR7 | p.P225L | Missense | SNP | 0.591 | 2 | - | ND |
PRR9 | - | - | - | - | 3 | Gain | ND |
PRRC2C | - | - | - | - | 3 | Gain | ND |
PRRT4 | - | - | - | - | 3 | Gain | ND |
PRRX1 | - | - | - | - | 3 | Gain | ND |
PRSS12 | - | - | - | - | 1 | Loss | ND |
PRSS3 | - | - | - | - | 0 | Del | ND |
PRSS38 | - | - | - | - | 3 | Gain | ND |
PRSS48 | - | - | - | - | 1 | Loss | ND |
PRSS54 | - | - | - | - | 1 | Loss | ND |
PRSS58 | p.I208V | Missense | SNP | 0.675 | ND | ND | ND |
PRTFDC1 | - | - | - | - | 1 | Loss | ND |
PRTG | - | - | - | - | 3 | Gain | ND |
PRUNE2 | p.G605E | Missense | SNP | 1.000 | 2 | - | ND |
PRXL2B | - | - | - | - | 3 | Gain | ND |
PSD4 | p.S99F | Missense | SNP | 0.537 | 2 | - | ND |
PSEN2 | - | - | - | - | 3 | Gain | ND |
PSG1 | - | - | - | - | 1 | Loss | ND |
PSG11 | - | - | - | - | 1 | Loss | ND |
PSG2 | - | - | - | - | 1 | Loss | ND |
PSG4 | - | - | - | - | 1 | Loss | ND |
PSG5 | - | - | - | - | 1 | Loss | ND |
PSG6 | - | - | - | - | 1 | Loss | ND |
PSG7 | - | - | - | - | 1 | Loss | ND |
PSG8 | p.S340L p.G317D | Missense Missense | SNP SNP | 0.588 0.242 | 1 | Loss | ND |
PSG9 | p.L52F | Missense | SNP | 0.496 | 1 | Loss | ND |
PSIP1 | - | - | - | - | 0 | Del | ND |
PSKH1 | - | - | - | - | 1 | Loss | ND |
PSMA2 | - | - | - | - | 3 | Gain | ND |
PSMA4 | - | - | - | - | 3 | Gain | ND |
PSMB10 | - | - | - | - | 1 | Loss | ND |
PSMB2 | - | - | - | - | 3 | Gain | ND |
PSMB8 | p.R216W | Missense | SNP | 0.739 | 2 | - | ND |
PSMC2 | p.R144I | Missense | SNP | 0.328 | 3 | Gain | ND |
PSMD7 | - | - | - | - | 1 | Loss | ND |
PSME4 | p.R625C | Missense | SNP | 0.472 | 2 | - | ND |
PSMG3 | - | - | - | - | 3 | Gain | ND |
PSPH | - | - | - | - | 3 | Gain | ND |
PSTPIP1 | - | - | - | - | 3 | Gain | ND |
PTAFR | - | - | - | - | 3 | Gain | ND |
PTCD1 | - | - | - | - | 3 | Gain | ND |
PTCHD3 | - | - | - | - | 1 | Loss | ND |
PTER | - | - | - | - | 1 | Loss | ND |
PTF1A | - | - | - | - | 1 | Loss | ND |
PTGDR | p.R310Q | Missense | SNP | 0.330 | 2 | - | ND |
PTGER4 | - | - | - | - | 3 | Gain | ND |
PTGS2 | - | - | - | - | 3 | Gain | ND |
PTP4A2 | - | - | - | - | 3 | Gain | ND |
PTPN12 | p.S649F | Missense | SNP | 0.681 | 4 | Gain | ND |
PTPN13 | p.S1754L | Missense | SNP | 0.475 | 1 | Loss | ND |
PTPN14 | p.V342I | Missense | SNP | 0.144 | 3 | Gain | ND |
PTPN20 | - | - | - | - | 1 | Loss | ND |
PTPN7 | - | - | - | - | 3 | Gain | ND |
PTPN9 | - | - | - | - | 3 | Gain | ND |
PTPRB | p.E1444K | Missense | SNP | 0.297 | 2 | - | ND |
PTPRC | - | - | - | - | 3 | Gain | ND |
PTPRD | p.P846S | Missense | SNP | 1.000 | 0 | Del | ND |
PTPRG | p.A283V | Missense | SNP | 0.259 | 2 | - | ND |
PTPRJ | p.L947R | Missense | SNP | 0.300 | 2 | - | ND |
PTPRN | p.D701N | Missense | SNP | 0.523 | 2 | - | ND |
PTPRN2 | - | - | - | - | 3 | Gain | ND |
PTPRO | p.P873L | Missense | SNP | 0.665 | 2 | - | ND |
PTPRT | p.S1368F p.P489S p.W306* | Missense Missense Nonsense | SNP SNP SNP | 0.262 0.239 0.439 | 2 | - | ND |
PTPRU | - | - | - | - | 3 | Gain | ND |
PTPRZ1 | - | - | - | - | 3 | Gain | ND |
PUM1 | - | - | - | - | 3 | Gain | ND |
PUM3 | - | - | - | - | 0 | Del | ND |
PURB | - | - | - | - | 3 | Gain | ND |
PUS7 | - | - | - | - | 3 | Gain | ND |
PUSL1 | - | - | - | - | 3 | Gain | ND |
PVALB | - | - | - | - | 3 | Gain | ND |
PVRIG | - | - | - | - | 3 | Gain | ND |
PWWP2B | - | - | - | - | 1 | Loss | ND |
PXDNL | p.E685K p.G248E | Missense Missense | SNP SNP | 0.472 0.280 | 2 | - | ND |
PYCR2 | - | - | - | - | 3 | Gain | ND |
PYGB | p.L145F | Missense | SNP | 0.421 | 2 | - | ND |
PYGO1 | - | - | - | - | 3 | Gain | ND |
PYGO2 | - | - | - | - | 3 | Gain | ND |
PYHIN1 | - | - | - | - | 3 | Gain | ND |
PYURF | - | - | - | - | 1 | Loss | ND |
QRFPR | - | - | - | - | 1 | Loss | ND |
QSOX1 | - | - | - | - | 3 | Gain | ND |
R3HCC1 | p.A419V | Missense | SNP | 0.338 | 2 | - | ND |
RAB11A | - | - | - | - | 3 | Gain | ND |
RAB13 | - | - | - | - | 3 | Gain | ND |
RAB18 | - | - | - | - | 1 | Loss | ND |
RAB25 | - | - | - | - | 3 | Gain | ND |
RAB27A | - | - | - | - | 3 | Gain | ND |
RAB29 | - | - | - | - | 3 | Gain | ND |
RAB33B | - | - | - | - | 3 | Gain | ND |
RAB36 | - | - | - | - | 3 | Gain | ND |
RAB3C | - | - | - | - | 3 | Gain | ND |
RAB3GAP2 | - | - | - | - | 3 | Gain | ND |
RAB42 | - | - | - | - | 3 | Gain | ND |
RAB4A | - | - | - | - | 3 | Gain | ND |
RAB6A | p.R84C | Missense | SNP | 0.254 | 2 | - | ND |
RAB8B | - | - | - | - | 3 | Gain | ND |
RABGAP1L | - | - | - | - | 4 | Gain | ND |
RABGEF1 | - | - | - | - | 3 | Gain | ND |
RABIF | - | - | - | - | 3 | Gain | ND |
RAC1 | - | - | - | - | 3 | Gain | ND |
RAC2 | p.L67F | Missense | SNP | 0.137 | 3 | Gain | ND |
RACK1 | - | - | - | - | 1 | Loss | ND |
RADIL | - | - | - | - | 3 | Gain | ND |
RALA | - | - | - | - | 3 | Gain | ND |
RALGPS2 | - | - | - | - | 3 | Gain | ND |
RALY | p.X220_splice | Splice_Site | SNP | 0.549 | 2 | - | ND |
RAMAC | - | - | - | - | 3 | Gain | ND |
RAMP3 | - | - | - | - | 3 | Gain | ND |
RANBP1 | - | - | - | - | 3 | Gain | ND |
RANBP10 | - | - | - | - | 1 | Loss | ND |
RANBP3L | - | - | - | - | 3 | Gain | ND |
RANBP6 | - | - | - | - | 0 | Del | ND |
RAP1GAP | - | - | - | - | 3 | Gain | ND |
RAP1GAP2 | p.G233R | Missense | SNP | 0.257 | 2 | - | ND |
RAP1GDS1 | - | - | - | - | 1 | Loss | ND |
RAPGEF2 | p.P1273S | Missense | SNP | 0.259 | 3 | Gain | ND |
RAPGEF3 | p.D19N | Missense | SNP | 0.197 | 2 | - | ND |
RAPGEF5 | - | - | - | - | 3 | Gain | ND |
RARRES2 | - | - | - | - | 3 | Gain | ND |
RASA4 | - | - | - | - | 3 | Gain | ND |
RASA4B | - | - | - | - | 3 | Gain | ND |
RASAL2 | - | - | - | - | 3 | Gain | ND |
RASD2 | - | - | - | - | 3 | Gain | ND |
RASGEF1A | - | - | - | - | 1 | Loss | ND |
RASGEF1B | - | - | - | - | 1 | Loss | ND |
RASGRF1 | - | - | - | - | 3 | Gain | ND |
RASGRF2 | p.D551N | Missense | SNP | 0.178 | 2 | - | ND |
RASL10A | - | - | - | - | 3 | Gain | ND |
RASL12 | - | - | - | - | 3 | Gain | ND |
RASSF4 | - | - | - | - | 1 | Loss | ND |
RASSF5 | p.G415D | Missense | SNP | 0.312 | 3 | Gain | ND |
RASSF6 | p.Y64* | Nonsense | SNP | 0.429 | 2 | - | ND |
RBAK | - | - | - | - | 3 | Gain | ND |
RBAK-RBAKDN | - | - | - | - | 3 | Gain | ND |
RBBP4 | - | - | - | - | 3 | Gain | ND |
RBBP5 | - | - | - | - | 3 | Gain | ND |
RBBP8NL | p.G180R | Missense | SNP | 0.284 | 2 | - | ND |
RBFOX1 | p.S209N | Missense | SNP | 0.586 | 2 | - | ND |
RBFOX2 | - | - | - | - | 3 | Gain | ND |
RBL2 | - | - | - | - | 1 | Loss | ND |
RBM17 | - | - | - | - | 1 | Loss | ND |
RBM20 | p.E1020K | Missense | SNP | 0.676 | 2 | - | ND |
RBM26 | p.P227S | Missense | SNP | 0.330 | 2 | - | ND |
RBM28 | - | - | - | - | 3 | Gain | ND |
RBM33 | - | - | - | - | 3 | Gain | ND |
RBM34 | - | - | - | - | 3 | Gain | ND |
RBM46 | - | - | - | - | 1 | Loss | ND |
RBM48 | - | - | - | - | 4 | Gain | ND |
RBMXL3 | p.G308R | Missense | SNP | 1.000 | ND | ND | ND |
RBP1 | p.D2N | Missense | SNP | 0.232 | 2 | - | ND |
RBP3 | - | - | - | - | 1 | Loss | ND |
RBP7 | - | - | - | - | 3 | Gain | ND |
RBPJL | p.P468S | Missense | SNP | 0.229 | 2 | - | ND |
RBPMS2 | - | - | - | - | 3 | Gain | ND |
RBX1 | - | - | - | - | 3 | Gain | ND |
RC3H1 | - | - | - | - | 3 | Gain | ND |
RC3H2 | p.P838L | Missense | SNP | 0.641 | 2 | - | ND |
RCAN3 | - | - | - | - | 3 | Gain | ND |
RCBTB2 | p.N478S | Missense | SNP | 0.360 | 2 | - | ND |
RCC1 | - | - | - | - | 3 | Gain | ND |
RCC1L | - | - | - | - | 3 | Gain | ND |
RCC2 | - | - | - | - | 3 | Gain | ND |
RCCD1 | - | - | - | - | 3 | Gain | ND |
RCHY1 | - | - | - | - | 1 | Loss | ND |
RCL1 | - | - | - | - | 0 | Del | ND |
RCN2 | - | - | - | - | 3 | Gain | ND |
RCOR3 | - | - | - | - | 3 | Gain | ND |
RCSD1 | - | - | - | - | 3 | Gain | ND |
RD3 | - | - | - | - | 3 | Gain | ND |
RDH5 | p.E219D | Missense | SNP | 0.300 | 2 | - | ND |
REC114 | - | - | - | - | 3 | Gain | ND |
RECK | - | - | - | - | 1 | Loss | ND |
REELD1 | - | - | - | - | 3 | Gain | ND |
RELN | p.E3142K p.E2973K | Missense Missense | SNP SNP | 0.599 0.752 | 3 | Gain | ND |
REM1 | p.R203P | Missense | SNP | 0.505 | 2 | - | ND |
REN | - | - | - | - | 3 | Gain | ND |
REPIN1 | - | - | - | - | 3 | Gain | ND |
RER1 | - | - | - | - | 3 | Gain | ND |
RERE | p.S1366F | Missense | SNP | 0.285 | 3 | Gain | ND |
RET | - | - | - | - | 1 | Loss | ND |
RFC2 | - | - | - | - | 4 | Gain | ND |
RFPL1 | - | - | - | - | 3 | Gain | ND |
RFPL2 | p.S326F | Missense | SNP | 0.776 | 3 | Gain | ND |
RFPL3 | p.G16E | Missense | SNP | 0.442 | 3 | Gain | ND |
RFT1 | p.E486G | Missense | SNP | 0.500 | 2 | - | ND |
RFWD3 | - | - | - | - | 1 | Loss | ND |
RFX3 | - | - | - | - | 0 | Del | ND |
RFX7 | - | - | - | - | 3 | Gain | ND |
RFXANK | p.P44S | Missense | SNP | 0.304 | 2 | - | ND |
RGAG1 | p.R503K | Missense | SNP | 0.995 | ND | ND | ND |
RGL1 | - | - | - | - | 3 | Gain | ND |
RGL4 | - | - | - | - | 3 | Gain | ND |
RGMA | - | - | - | - | 3 | Gain | ND |
RGP1 | - | - | - | - | 1 | Loss | ND |
RGPD1 | - | - | - | - | 0 | Del | ND |
RGPD2 | - | - | - | - | 0 | Del | ND |
RGS1 | - | - | - | - | 3 | Gain | ND |
RGS12 | - | - | - | - | 3 | Gain | ND |
RGS13 | - | - | - | - | 3 | Gain | ND |
RGS16 | - | - | - | - | 3 | Gain | ND |
RGS18 | - | - | - | - | 3 | Gain | ND |
RGS2 | - | - | - | - | 3 | Gain | ND |
RGS21 | - | - | - | - | 3 | Gain | ND |
RGS4 | - | - | - | - | 3 | Gain | ND |
RGS5 | - | - | - | - | 3 | Gain | ND |
RGS6 | p.R47K | Missense | SNP | 0.378 | 2 | - | ND |
RGS7 | - | - | - | - | 3 | Gain | ND |
RGS8 | - | - | - | - | 3 | Gain | ND |
RGSL1 | - | - | - | - | 3 | Gain | ND |
RHAG | p.E161K | Missense | SNP | 0.292 | 2 | - | ND |
RHBDD2 | p.S32Y | Missense | SNP | 0.208 | 3 | Gain | ND |
RHBDD3 | - | - | - | - | 3 | Gain | ND |
RHBG | - | - | - | - | 3 | Gain | ND |
RHCE | - | - | - | - | 3 | Gain | ND |
RHCG | - | - | - | - | 3 | Gain | ND |
RHD | - | - | - | - | 3 | Gain | ND |
RHEB | - | - | - | - | 3 | Gain | ND |
RHEX | - | - | - | - | 3 | Gain | ND |
RHO | p.G121S | Missense | SNP | 0.479 | 2 | - | ND |
RHOD | p.W111* | Nonsense | SNP | 0.306 | 2 | - | ND |
RHOU | - | - | - | - | 3 | Gain | ND |
RIBC2 | - | - | - | - | 3 | Gain | ND |
RIC1 | - | - | - | - | 0 | Del | ND |
RICTOR | - | - | - | - | 3 | Gain | ND |
RILPL2 | p.R206* | Nonsense | SNP | 0.289 | 2 | - | ND |
RIMS2 | p.L584I | Missense | SNP | 0.267 | 2 | - | ND |
RINT1 | - | - | - | - | 3 | Gain | ND |
RIPOR1 | - | - | - | - | 1 | Loss | ND |
RIT1 | - | - | - | - | 3 | Gain | ND |
RLBP1 | - | - | - | - | 3 | Gain | ND |
RLN1 | - | - | - | - | 0 | Del | ND |
RLN2 | - | - | - | - | 0 | Del | ND |
RNASEH1 | p.V79D | Missense | SNP | 0.557 | 2 | - | ND |
RNASEL | - | - | - | - | 3 | Gain | ND |
RNF103 | p.F420L | Missense | SNP | 0.520 | 2 | - | ND |
RNF111 | - | - | - | - | 3 | Gain | ND |
RNF133 | - | - | - | - | 3 | Gain | ND |
RNF148 | - | - | - | - | 3 | Gain | ND |
RNF150 | - | - | - | - | 3 | Gain | ND |
RNF166 | - | - | - | - | 1 | Loss | ND |
RNF17 | p.A226T | Missense | SNP | 0.449 | 2 | - | ND |
RNF175 | - | - | - | - | 1 | Loss | ND |
RNF185 | - | - | - | - | 3 | Gain | ND |
RNF186 | - | - | - | - | 3 | Gain | ND |
RNF187 | - | - | - | - | 3 | Gain | ND |
RNF19B | - | - | - | - | 3 | Gain | ND |
RNF2 | - | - | - | - | 3 | Gain | ND |
RNF207 | - | - | - | - | 3 | Gain | ND |
RNF212B | - | - | - | - | 1 | Loss | ND |
RNF215 | - | - | - | - | 3 | Gain | ND |
RNF216 | - | - | - | - | 3 | Gain | ND |
RNF223 | - | - | - | - | 3 | Gain | ND |
RNF32 | - | - | - | - | 3 | Gain | ND |
RNF38 | p.P340L | Missense | SNP | 1.000 | 1 | Loss | ND |
RNGTT | p.R330C | Missense | SNP | 0.365 | 2 | - | ND |
RNPEP | - | - | - | - | 3 | Gain | ND |
ROBO2 | p.R1151* | Nonsense | SNP | 0.266 | 2 | - | ND |
RORA | - | - | - | - | 3 | Gain | ND |
ROS1 | p.G1392R | Missense | SNP | 0.660 | 2 | - | ND |
RP11-385D13.1 | p.Q470* | Nonsense | SNP | 0.705 | ND | ND | ND |
RP5-862P8.2 | p.E1031K | Missense | SNP | 0.479 | ND | ND | ND |
RP9 | - | - | - | - | 3 | Gain | ND |
RPA2 | - | - | - | - | 3 | Gain | ND |
RPA3 | - | - | - | - | 3 | Gain | ND |
RPGRIP1L | - | - | - | - | 1 | Loss | ND |
RPL11 | - | - | - | - | 3 | Gain | ND |
RPL13 | - | - | - | - | 1 | Loss | ND |
RPL22 | - | - | - | - | 3 | Gain | ND |
RPL3 | - | - | - | - | 3 | Gain | ND |
RPL34 | - | - | - | - | 1 | Loss | ND |
RPL37 | - | - | - | - | 3 | Gain | ND |
RPL4 | - | - | - | - | 3 | Gain | ND |
RPLP1 | - | - | - | - | 3 | Gain | ND |
RPP25 | - | - | - | - | 3 | Gain | ND |
RPP25L | - | - | - | - | 0 | Del | ND |
RPP38 | - | - | - | - | 1 | Loss | ND |
RPS17 | - | - | - | - | 3 | Gain | ND |
RPS19BP1 | - | - | - | - | 3 | Gain | ND |
RPS27 | - | - | - | - | 3 | Gain | ND |
RPS27L | - | - | - | - | 3 | Gain | ND |
RPS3A | - | - | - | - | 1 | Loss | ND |
RPS6 | - | - | - | - | 0 | Del | ND |
RPS6KA1 | - | - | - | - | 3 | Gain | ND |
RPS6KC1 | - | - | - | - | 3 | Gain | ND |
RPTOR | p.L10F | Missense | SNP | 0.327 | 2 | - | ND |
RRAD | - | - | - | - | 1 | Loss | ND |
RRAGA | - | - | - | - | 0 | Del | ND |
RRH | - | - | - | - | 1 | Loss | ND |
RRNAD1 | - | - | - | - | 3 | Gain | ND |
RRP15 | - | - | - | - | 3 | Gain | ND |
RSBN1L | - | - | - | - | 4 | Gain | ND |
RSC1A1 | - | - | - | - | 3 | Gain | ND |
RSL24D1 | - | - | - | - | 3 | Gain | ND |
RSPH10B | - | - | - | - | 3 | Gain | ND |
RSPH10B2 | - | - | - | - | 3 | Gain | ND |
RSPH14 | - | - | - | - | 3 | Gain | ND |
RSPO1 | - | - | - | - | 3 | Gain | ND |
RSPRY1 | - | - | - | - | 1 | Loss | ND |
RSRP1 | - | - | - | - | 3 | Gain | ND |
RSU1 | - | - | - | - | 1 | Loss | ND |
RTCB | - | - | - | - | 3 | Gain | ND |
RTEL1 | p.R1223I | Missense | SNP | 0.266 | 2 | - | ND |
RTL10 | - | - | - | - | 3 | Gain | ND |
RTN4R | - | - | - | - | 3 | Gain | ND |
RUNDC3B | - | - | - | - | 3 | Gain | ND |
RUNX1T1 | p.S596L p.R88Q | Missense Missense | SNP SNP | 0.489 0.250 | 2 | - | ND |
RUNX2 | p.E226K | Missense | SNP | 0.643 | 2 | - | ND |
RUNX3 | - | - | - | - | 3 | Gain | ND |
RUSC1 | - | - | - | - | 3 | Gain | ND |
RUSC2 | p.S463F | Missense | SNP | 0.510 | 1 | Loss | ND |
RWDD4 | - | - | - | - | 3 | Gain | ND |
RXFP1 | - | - | - | - | 3 | Gain | ND |
RXFP2 | p.G95E | Missense | SNP | 0.393 | 2 | - | ND |
RXFP4 | - | - | - | - | 3 | Gain | ND |
RXRG | - | - | - | - | 3 | Gain | ND |
RYR2 | p.D458N p.E3002K | Missense Missense | SNP SNP | 0.187 0.304 | 3 | Gain | ND |
S100A1 | - | - | - | - | 3 | Gain | ND |
S100A11 | p.S16V | Missense | DNP | 0.209 | 2 | - | ND |
S100A12 | - | - | - | - | 3 | Gain | ND |
S100A13 | - | - | - | - | 3 | Gain | ND |
S100A14 | - | - | - | - | 3 | Gain | ND |
S100A16 | - | - | - | - | 3 | Gain | ND |
S100A2 | - | - | - | - | 3 | Gain | ND |
S100A3 | - | - | - | - | 3 | Gain | ND |
S100A4 | - | - | - | - | 3 | Gain | ND |
S100A5 | - | - | - | - | 3 | Gain | ND |
S100A6 | - | - | - | - | 3 | Gain | ND |
S100A7 | - | - | - | - | 3 | Gain | ND |
S100A7A | - | - | - | - | 3 | Gain | ND |
S100A7L2 | - | - | - | - | 3 | Gain | ND |
S100A8 | - | - | - | - | 3 | Gain | ND |
S100A9 | - | - | - | - | 3 | Gain | ND |
S100PBP | - | - | - | - | 3 | Gain | ND |
SACS | p.S3289L | Missense | SNP | 0.385 | 2 | - | ND |
SAFB2 | p.R755C | Missense | SNP | 0.476 | 2 | - | ND |
SALL1 | - | - | - | - | 1 | Loss | ND |
SALL3 | p.P95L p.G651E p.S1117L | Missense Missense Missense | SNP DNP SNP | 0.679 0.288 0.315 | 2 | - | ND |
SAMD11 | - | - | - | - | 3 | Gain | ND |
SAMD12 | p.P12L | Missense | SNP | 0.510 | 2 | - | ND |
SAMD4A | p.P631L | Missense | SNP | 0.344 | 2 | - | ND |
SAMD9 | - | - | - | - | 4 | Gain | ND |
SAMD9L | - | - | - | - | 4 | Gain | ND |
SAP130 | p.P95L | Missense | SNP | 0.210 | 2 | - | ND |
SAP25 | - | - | - | - | 3 | Gain | ND |
SAP30 | - | - | - | - | 3 | Gain | ND |
SASH1 | p.S90F | Missense | SNP | 0.273 | 2 | - | ND |
SATL1 | p.I261V | Missense | SNP | 1.000 | ND | ND | ND |
SAXO1 | - | - | - | - | 0 | Del | ND |
SAXO2 | - | - | - | - | 3 | Gain | ND |
SBDS | - | - | - | - | 3 | Gain | ND |
SBSN | p.E508K | Missense | SNP | 0.234 | 2 | - | ND |
SBSPON | p.E79K | Missense | SNP | 0.529 | 2 | - | ND |
SCAMP2 | - | - | - | - | 3 | Gain | ND |
SCAMP3 | - | - | - | - | 3 | Gain | ND |
SCAMP5 | - | - | - | - | 3 | Gain | ND |
SCAPER | - | - | - | - | 3 | Gain | ND |
SCARB2 | - | - | - | - | 1 | Loss | ND |
SCARF2 | - | - | - | - | 3 | Gain | ND |
SCART1 | - | - | - | - | 1 | Loss | ND |
SCCPDH | - | - | - | - | 3 | Gain | ND |
SCD5 | - | - | - | - | 1 | Loss | ND |
SCFD1 | p.P587L | Missense | SNP | 0.273 | 2 | - | ND |
SCG3 | p.E192A | Missense | SNP | 0.353 | 2 | - | ND |
SCIN | - | - | - | - | 3 | Gain | ND |
SCLT1 | - | - | - | - | 3 | Gain | ND |
SCN10A | p.E859K | Missense | SNP | 0.246 | 2 | - | ND |
SCN11A | p.E418K | Missense | SNP | 0.261 | 2 | - | ND |
SCN2A | p.G882E | Missense | SNP | 0.454 | 2 | - | ND |
SCN2B | p.T15M | Missense | SNP | 0.612 | 2 | - | ND |
SCN4A | p.D511N | Missense | DNP | 0.637 | 2 | - | ND |
SCN5A | p.D498N | Missense | SNP | 0.502 | 2 | - | ND |
SCNN1B | p.R200K | Missense | SNP | 0.567 | 2 | - | ND |
SCNN1D | - | - | - | - | 3 | Gain | ND |
SCOC | - | - | - | - | 3 | Gain | ND |
SCRG1 | - | - | - | - | 3 | Gain | ND |
SCRIB | p.G907S p.A516V | Missense Missense | SNP SNP | 0.545 0.438 | 2 | - | ND |
SCRN1 | - | - | - | - | 3 | Gain | ND |
SCX | - | - | - | - | 1 | Loss | ND |
SCYL3 | - | - | - | - | 3 | Gain | ND |
SDAD1 | - | - | - | - | 1 | Loss | ND |
SDC3 | - | - | - | - | 3 | Gain | ND |
SDCCAG8 | - | - | - | - | 3 | Gain | ND |
SDE2 | - | - | - | - | 3 | Gain | ND |
SDF2L1 | - | - | - | - | 3 | Gain | ND |
SDF4 | - | - | - | - | 3 | Gain | ND |
SDHAF3 | - | - | - | - | 3 | Gain | ND |
SDHB | - | - | - | - | 3 | Gain | ND |
SDHC | - | - | - | - | 3 | Gain | ND |
SDK1 | p.M194I p.G957E p.R1615K | Missense Missense Missense | SNP SNP SNP | 0.332 0.470 0.173 | 3 | Gain | ND |
SDR42E1 | - | - | - | - | 1 | Loss | ND |
SDS | p.D137A | Missense | SNP | 0.596 | 2 | - | ND |
SEC11A | - | - | - | - | 3 | Gain | ND |
SEC14L2 | - | - | - | - | 3 | Gain | ND |
SEC14L3 | p.I68S | Missense | SNP | 0.183 | 3 | Gain | ND |
SEC14L4 | - | - | - | - | 3 | Gain | ND |
SEC14L6 | - | - | - | - | 3 | Gain | ND |
SEC16B | p.D969N p.P966L | Missense Missense | SNP SNP | 0.769 0.776 | 3 | Gain | ND |
SEC23B | p.Q145* | Nonsense | SNP | 0.195 | 2 | - | ND |
SEC24B | - | - | - | - | 1 | Loss | ND |
SEC24D | p.P64S | Missense | SNP | 1.000 | 1 | Loss | ND |
SEC31A | - | - | - | - | 1 | Loss | ND |
SEC61A2 | - | - | - | - | 1 | Loss | ND |
SEC61G | - | - | - | - | 3 | Gain | ND |
SEL1L3 | p.M610I | Missense | SNP | 0.561 | 2 | - | ND |
SELE | - | - | - | - | 3 | Gain | ND |
SELENOM | - | - | - | - | 3 | Gain | ND |
SELENON | - | - | - | - | 3 | Gain | ND |
SELENOP | - | - | - | - | 3 | Gain | ND |
SELENOS | - | - | - | - | 3 | Gain | ND |
SELL | - | - | - | - | 3 | Gain | ND |
SELO | p.S222F | Missense | SNP | 0.227 | ND | ND | ND |
SELP | - | - | - | - | 3 | Gain | ND |
SEM1 | - | - | - | - | 3 | Gain | ND |
SEMA3A | - | - | - | - | 4 | Gain | ND |
SEMA3C | - | - | - | - | 4 | Gain | ND |
SEMA3D | - | - | - | - | 4 | Gain | ND |
SEMA3E | - | - | - | - | 4 | Gain | ND |
SEMA4A | - | - | - | - | 3 | Gain | ND |
SEMA4B | - | - | - | - | 3 | Gain | ND |
SEMA5B | p.R458C | Missense | SNP | 0.416 | 2 | - | ND |
SEMA7A | - | - | - | - | 3 | Gain | ND |
SEMG1 | p.D416N | Missense | SNP | 0.246 | 2 | - | ND |
SEMG2 | p.T236I | Missense | SNP | 0.513 | 2 | - | ND |
SENP8 | - | - | - | - | 1 | Loss | ND |
SEPHS1 | - | - | - | - | 1 | Loss | ND |
SEPT11 | - | - | - | - | 1 | Loss | ND |
SEPT14 | - | - | - | - | 3 | Gain | ND |
SEPT5 | - | - | - | - | 3 | Gain | ND |
SEPT5-GP1BB | - | - | - | - | 3 | Gain | ND |
SEPT7 | - | - | - | - | 3 | Gain | ND |
SERF1A | - | - | - | - | 1 | Loss | ND |
SERF1B | - | - | - | - | 1 | Loss | ND |
SERINC2 | - | - | - | - | 3 | Gain | ND |
SERINC4 | p.X153_splice | Splice_Site | SNP | 0.423 | 2 | - | ND |
SERPINB7 | p.G341E | Missense | SNP | 0.506 | 2 | - | ND |
SERPINC1 | - | - | - | - | 3 | Gain | ND |
SERPIND1 | - | - | - | - | 3 | Gain | ND |
SERPINE1 | - | - | - | - | 3 | Gain | ND |
SERTAD4 | - | - | - | - | 3 | Gain | ND |
SESN1 | p.P295S | Missense | SNP | 0.328 | 2 | - | ND |
SESN2 | - | - | - | - | 3 | Gain | ND |
SETBP1 | p.P31S | Missense | SNP | 0.664 | 2 | - | ND |
SETD6 | - | - | - | - | 1 | Loss | ND |
SETD7 | - | - | - | - | 3 | Gain | ND |
SETD9 | - | - | - | - | 3 | Gain | ND |
SEZ6 | p.G19E | Missense | SNP | 0.294 | 2 | - | ND |
SEZ6L | p.A605V p.D796N | Missense Missense | SNP SNP | 0.235 0.205 | 3 | Gain | ND |
SF3A1 | - | - | - | - | 3 | Gain | ND |
SF3B3 | - | - | - | - | 1 | Loss | ND |
SFI1 | p.Q402* | Nonsense | SNP | 0.539 | 3 | Gain | ND |
SFMBT2 | - | - | - | - | 1 | Loss | ND |
SFN | - | - | - | - | 3 | Gain | ND |
SFPQ | - | - | - | - | 3 | Gain | ND |
SFRP2 | - | - | - | - | 1 | Loss | ND |
SFRP4 | - | - | - | - | 3 | Gain | ND |
SFT2D2 | - | - | - | - | 3 | Gain | ND |
SGCE | - | - | - | - | 4 | Gain | ND |
SGF29 | p.N37T | Missense | SNP | 0.314 | 2 | - | ND |
SGK2 | p.D228N | Missense | SNP | 0.364 | 2 | - | ND |
SGMS1 | - | - | - | - | 1 | Loss | ND |
SGMS2 | - | - | - | - | 1 | Loss | ND |
SGSM1 | p.S512L | Missense | SNP | 0.254 | 3 | Gain | ND |
SGSM3 | - | - | - | - | 3 | Gain | ND |
SH2B2 | - | - | - | - | 3 | Gain | ND |
SH2D1B | - | - | - | - | 3 | Gain | ND |
SH2D2A | - | - | - | - | 3 | Gain | ND |
SH2D5 | - | - | - | - | 3 | Gain | ND |
SH2D7 | - | - | - | - | 3 | Gain | ND |
SH3BGRL3 | - | - | - | - | 3 | Gain | ND |
SH3BP1 | - | - | - | - | 3 | Gain | ND |
SH3BP2 | - | - | - | - | 3 | Gain | ND |
SH3BP4 | p.S355F | Missense | SNP | 0.225 | 2 | - | ND |
SH3BP5L | - | - | - | - | 3 | Gain | ND |
SH3D19 | - | - | - | - | 1 | Loss | ND |
SH3D21 | - | - | - | - | 3 | Gain | ND |
SH3GL2 | - | - | - | - | 0 | Del | ND |
SH3GL3 | - | - | - | - | 3 | Gain | ND |
SH3RF1 | - | - | - | - | 3 | Gain | ND |
SH3RF2 | p.R263C p.T724I | Missense Missense | SNP SNP | 0.317 0.407 | 2 | - | ND |
SHANK3 | p.D340N p.S944F | Missense Missense | SNP DNP | 0.523 0.520 | 2 | - | ND |
SHB | - | - | - | - | 1 | Loss | ND |
SHC1 | - | - | - | - | 3 | Gain | ND |
SHCBP1 | - | - | - | - | 1 | Loss | ND |
SHCBP1L | - | - | - | - | 3 | Gain | ND |
SHE | - | - | - | - | 3 | Gain | ND |
SHH | - | - | - | - | 3 | Gain | ND |
SHISA4 | - | - | - | - | 3 | Gain | ND |
SHISA5 | p.E70K | Missense | SNP | 0.253 | 2 | - | ND |
SHPK | p.P303S | Missense | SNP | 0.648 | 2 | - | ND |
SHROOM3 | - | - | - | - | 1 | Loss | ND |
SI | p.D1028N p.D833N | Missense Missense | SNP SNP | 0.311 0.238 | 2 | - | ND |
SIAH1 | - | - | - | - | 1 | Loss | ND |
SIGLEC7 | p.G177E | Missense | SNP | 0.238 | 2 | - | ND |
SIGMAR1 | - | - | - | - | 0 | Del | ND |
SIK3 | p.S978L | Missense | SNP | 0.709 | 2 | - | ND |
SIN3A | - | - | - | - | 3 | Gain | ND |
SIPA1L2 | - | - | - | - | 3 | Gain | ND |
SIT1 | - | - | - | - | 1 | Loss | ND |
SKAP2 | - | - | - | - | 3 | Gain | ND |
SKI | - | - | - | - | 3 | Gain | ND |
SKIDA1 | - | - | - | - | 1 | Loss | ND |
SKIV2L | p.K1004I | Missense | DNP | 0.304 | 2 | - | ND |
SKOR1 | - | - | - | - | 3 | Gain | ND |
SKP2 | - | - | - | - | 3 | Gain | ND |
SLAMF1 | - | - | - | - | 3 | Gain | ND |
SLAMF6 | - | - | - | - | 3 | Gain | ND |
SLAMF7 | - | - | - | - | 3 | Gain | ND |
SLAMF8 | p.A14T | Missense | SNP | 0.817 | 3 | Gain | ND |
SLAMF9 | - | - | - | - | 3 | Gain | ND |
SLC10A6 | - | - | - | - | 1 | Loss | ND |
SLC10A7 | - | - | - | - | 3 | Gain | ND |
SLC12A3 | - | - | - | - | 1 | Loss | ND |
SLC12A4 | - | - | - | - | 1 | Loss | ND |
SLC12A8 | p.S232F | Missense | SNP | 0.180 | 2 | - | ND |
SLC12A9 | - | - | - | - | 3 | Gain | ND |
SLC13A1 | - | - | - | - | 3 | Gain | ND |
SLC15A2 | p.R492C | Missense | SNP | 0.456 | 2 | - | ND |
SLC16A14 | p.S302L | Missense | SNP | 0.251 | 2 | - | ND |
SLC16A8 | - | - | - | - | 3 | Gain | ND |
SLC16A9 | - | - | - | - | 1 | Loss | ND |
SLC18A1 | p.P300S | Missense | SNP | 0.612 | 2 | - | ND |
SLC18A2 | p.D460N | Missense | SNP | 0.343 | 2 | - | ND |
SLC18A3 | - | - | - | - | 1 | Loss | ND |
SLC19A2 | - | - | - | - | 3 | Gain | ND |
SLC1A1 | - | - | - | - | 0 | Del | ND |
SLC1A3 | - | - | - | - | 3 | Gain | ND |
SLC1A7 | p.P44L | Missense | SNP | 0.439 | 2 | - | ND |
SLC22A17 | - | - | - | - | 1 | Loss | ND |
SLC22A25 | p.E458K | Missense | SNP | 0.362 | 2 | - | ND |
SLC22A31 | - | - | - | - | 1 | Loss | ND |
SLC23A1 | p.E504K | Missense | SNP | 0.621 | 2 | - | ND |
SLC24A1 | - | - | - | - | 3 | Gain | ND |
SLC24A2 | - | - | - | - | 0 | Del | ND |
SLC24A3 | p.D177N | Missense | SNP | 0.241 | 2 | - | ND |
SLC24A4 | p.F612Y | Missense | SNP | 0.291 | 2 | - | ND |
SLC25A1 | - | - | - | - | 3 | Gain | ND |
SLC25A13 | - | - | - | - | 3 | Gain | ND |
SLC25A17 | - | - | - | - | 3 | Gain | ND |
SLC25A18 | - | - | - | - | 3 | Gain | ND |
SLC25A23 | p.L226F | Missense | SNP | 0.482 | 2 | - | ND |
SLC25A31 | - | - | - | - | 3 | Gain | ND |
SLC25A33 | - | - | - | - | 3 | Gain | ND |
SLC25A34 | - | - | - | - | 3 | Gain | ND |
SLC25A4 | - | - | - | - | 3 | Gain | ND |
SLC25A40 | - | - | - | - | 3 | Gain | ND |
SLC25A44 | - | - | - | - | 3 | Gain | ND |
SLC25A51 | - | - | - | - | 1 | Loss | ND |
SLC26A3 | - | - | - | - | 3 | Gain | ND |
SLC26A4 | - | - | - | - | 3 | Gain | ND |
SLC26A5 | - | - | - | - | 3 | Gain | ND |
SLC26A7 | p.S270L | Missense | SNP | 0.482 | 2 | - | ND |
SLC26A9 | - | - | - | - | 3 | Gain | ND |
SLC27A1 | p.E525K | Missense | SNP | 0.245 | 2 | - | ND |
SLC27A3 | - | - | - | - | 3 | Gain | ND |
SLC27A6 | p.G378E | Missense | SNP | 0.240 | 2 | - | ND |
SLC28A1 | - | - | - | - | 3 | Gain | ND |
SLC29A4 | - | - | - | - | 3 | Gain | ND |
SLC2A10 | p.T21I | Missense | SNP | 0.469 | 2 | - | ND |
SLC2A11 | p.L224F | Missense | DNP | 0.536 | 3 | Gain | ND |
SLC2A5 | - | - | - | - | 3 | Gain | ND |
SLC2A7 | - | - | - | - | 3 | Gain | ND |
SLC30A1 | - | - | - | - | 3 | Gain | ND |
SLC30A10 | - | - | - | - | 3 | Gain | ND |
SLC30A2 | - | - | - | - | 3 | Gain | ND |
SLC35E2A | - | - | - | - | 3 | Gain | ND |
SLC35E2B | - | - | - | - | 3 | Gain | ND |
SLC35E4 | - | - | - | - | 3 | Gain | ND |
SLC35F3 | - | - | - | - | 3 | Gain | ND |
SLC38A4 | p.R104K | Missense | SNP | 0.681 | 2 | - | ND |
SLC38A7 | - | - | - | - | 1 | Loss | ND |
SLC38A8 | - | - | - | - | 1 | Loss | ND |
SLC38A9 | - | - | - | - | 3 | Gain | ND |
SLC39A1 | - | - | - | - | 3 | Gain | ND |
SLC39A12 | - | - | - | - | 1 | Loss | ND |
SLC39A8 | - | - | - | - | 1 | Loss | ND |
SLC41A1 | - | - | - | - | 3 | Gain | ND |
SLC44A3 | p.P169S | Missense | SNP | 0.722 | 2 | - | ND |
SLC45A1 | - | - | - | - | 3 | Gain | ND |
SLC45A3 | - | - | - | - | 3 | Gain | ND |
SLC4A2 | - | - | - | - | 3 | Gain | ND |
SLC50A1 | - | - | - | - | 3 | Gain | ND |
SLC51B | - | - | - | - | 3 | Gain | ND |
SLC52A3 | p.S228F | Missense | SNP | 0.209 | 2 | - | ND |
SLC5A1 | - | - | - | - | 3 | Gain | ND |
SLC5A4 | - | - | - | - | 3 | Gain | ND |
SLC6A2 | - | - | - | - | 1 | Loss | ND |
SLC6A3 | p.S7F | Missense | SNP | 0.538 | 2 | - | ND |
SLC6A9 | p.L658F | Missense | SNP | 0.464 | 2 | - | ND |
SLC7A11 | - | - | - | - | 3 | Gain | ND |
SLC7A13 | p.L369I | Missense | SNP | 0.338 | 2 | - | ND |
SLC7A4 | - | - | - | - | 3 | Gain | ND |
SLC7A5 | - | - | - | - | 1 | Loss | ND |
SLC7A6 | - | - | - | - | 1 | Loss | ND |
SLC7A6OS | - | - | - | - | 1 | Loss | ND |
SLC7A8 | - | - | - | - | 1 | Loss | ND |
SLC8A3 | p.M316I p.P242S p.E103K | Missense Missense Missense | SNP SNP SNP | 0.318 0.263 0.735 | 2 | - | ND |
SLC9A1 | - | - | - | - | 3 | Gain | ND |
SLC9A5 | - | - | - | - | 1 | Loss | ND |
SLC9B1 | - | - | - | - | 1 | Loss | ND |
SLC9B2 | - | - | - | - | 1 | Loss | ND |
SLC9C2 | p.D145H | Missense | SNP | 0.145 | 3 | Gain | ND |
SLCO1C1 | p.G91V | Missense | SNP | 0.570 | 2 | - | ND |
SLCO2A1 | p.D600N | Missense | SNP | 0.251 | 2 | - | ND |
SLCO2B1 | p.S159F | Missense | SNP | 0.330 | 2 | - | ND |
SLCO3A1 | - | - | - | - | 3 | Gain | ND |
SLCO4A1 | p.Y515D | Missense | SNP | 0.241 | 2 | - | ND |
SLCO5A1 | p.G257E | Missense | SNP | 0.266 | 2 | - | ND |
SLFN13 | p.T156I | Missense | SNP | 0.324 | 2 | - | ND |
SLFN14 | p.G241R | Missense | DNP | 0.605 | 2 | - | ND |
SLITRK4 | p.S83L | Missense | SNP | 0.500 | ND | ND | ND |
SLTM | - | - | - | - | 3 | Gain | ND |
SMAD1 | - | - | - | - | 3 | Gain | ND |
SMAD3 | - | - | - | - | 3 | Gain | ND |
SMAD6 | - | - | - | - | 3 | Gain | ND |
SMARCA2 | - | - | - | - | 0 | Del | ND |
SMARCA5 | - | - | - | - | 3 | Gain | ND |
SMARCAD1 | - | - | - | - | 1 | Loss | ND |
SMARCB1 | - | - | - | - | 3 | Gain | ND |
SMARCD3 | - | - | - | - | 3 | Gain | ND |
SMC1B | p.E787K | Missense | SNP | 0.484 | 3 | Gain | ND |
SMG5 | - | - | - | - | 3 | Gain | ND |
SMG7 | p.P565S | Missense | SNP | 0.170 | 3 | Gain | ND |
SMIM1 | - | - | - | - | 3 | Gain | ND |
SMIM12 | - | - | - | - | 3 | Gain | ND |
SMIM27 | - | - | - | - | 0 | Del | ND |
SMIM30 | - | - | - | - | 3 | Gain | ND |
SMKR1 | - | - | - | - | 3 | Gain | ND |
SMN1 | - | - | - | - | 1 | Loss | ND |
SMN2 | - | - | - | - | 1 | Loss | ND |
SMO | - | - | - | - | 3 | Gain | ND |
SMPD3 | - | - | - | - | 1 | Loss | ND |
SMPDL3B | - | - | - | - | 3 | Gain | ND |
SMTN | - | - | - | - | 3 | Gain | ND |
SMU1 | - | - | - | - | 0 | Del | ND |
SMURF1 | - | - | - | - | 3 | Gain | ND |
SMYD2 | - | - | - | - | 3 | Gain | ND |
SMYD3 | - | - | - | - | 3 | Gain | ND |
SNAI3 | - | - | - | - | 1 | Loss | ND |
SNAP29 | - | - | - | - | 3 | Gain | ND |
SNAP47 | - | - | - | - | 3 | Gain | ND |
SNAPC3 | - | - | - | - | 0 | Del | ND |
SNAPC5 | - | - | - | - | 3 | Gain | ND |
SNAPIN | - | - | - | - | 3 | Gain | ND |
SNCA | - | - | - | - | 1 | Loss | ND |
SNCAIP | p.G242E p.D664N | Missense Missense | SNP SNP | 0.308 0.605 | 2 | - | ND |
SND1 | - | - | - | - | 3 | Gain | ND |
SNHG28 | - | - | - | - | 3 | Gain | ND |
SNIP1 | - | - | - | - | 3 | Gain | ND |
SNRNP40 | - | - | - | - | 3 | Gain | ND |
SNRPA1 | - | - | - | - | 3 | Gain | ND |
SNRPD3 | - | - | - | - | 3 | Gain | ND |
SNRPE | - | - | - | - | 3 | Gain | ND |
SNRPN | - | - | - | - | 3 | Gain | ND |
SNTB2 | - | - | - | - | 1 | Loss | ND |
SNTG1 | p.E468K | Missense | SNP | 0.286 | 2 | - | ND |
SNUPN | - | - | - | - | 3 | Gain | ND |
SNURF | - | - | - | - | 3 | Gain | ND |
SNX1 | - | - | - | - | 3 | Gain | ND |
SNX10 | - | - | - | - | 3 | Gain | ND |
SNX13 | - | - | - | - | 3 | Gain | ND |
SNX18 | - | - | - | - | 3 | Gain | ND |
SNX20 | - | - | - | - | 1 | Loss | ND |
SNX22 | - | - | - | - | 3 | Gain | ND |
SNX25 | - | - | - | - | 3 | Gain | ND |
SNX33 | - | - | - | - | 3 | Gain | ND |
SNX8 | - | - | - | - | 3 | Gain | ND |
SOAT1 | - | - | - | - | 3 | Gain | ND |
SORBS2 | - | - | - | - | 3 | Gain | ND |
SOSTDC1 | - | - | - | - | 3 | Gain | ND |
SOWAHB | p.E597K | Missense | SNP | 1.000 | 1 | Loss | ND |
SOX10 | - | - | - | - | 3 | Gain | ND |
SOX13 | - | - | - | - | 3 | Gain | ND |
SP140 | p.E101K p.G599R | Missense Missense | SNP SNP | 0.304 0.211 | 2 | - | ND |
SP4 | - | - | - | - | 3 | Gain | ND |
SP8 | - | - | - | - | 3 | Gain | ND |
SPAAR | - | - | - | - | 1 | Loss | ND |
SPAG16 | p.P488S | Missense | SNP | 0.511 | 2 | - | ND |
SPAG6 | - | - | - | - | 1 | Loss | ND |
SPAG8 | - | - | - | - | 1 | Loss | ND |
SPAM1 | - | - | - | - | 3 | Gain | ND |
SPARCL1 | - | - | - | - | 1 | Loss | ND |
SPATA13 | p.G1195E | Missense | SNP | 0.436 | 2 | - | ND |
SPATA17 | - | - | - | - | 3 | Gain | ND |
SPATA21 | - | - | - | - | 3 | Gain | ND |
SPATA24 | p.P146S | Missense | SNP | 0.565 | 2 | - | ND |
SPATA2L | - | - | - | - | 1 | Loss | ND |
SPATA31D3 | - | - | - | - | 0 | Del | ND |
SPATA31D4 | - | - | - | - | 0 | Del | ND |
SPATA33 | - | - | - | - | 1 | Loss | ND |
SPATA4 | - | - | - | - | 3 | Gain | ND |
SPATA45 | - | - | - | - | 3 | Gain | ND |
SPATA46 | - | - | - | - | 3 | Gain | ND |
SPATA48 | - | - | - | - | 3 | Gain | ND |
SPATA5 | - | - | - | - | 1 | Loss | ND |
SPATA6L | - | - | - | - | 0 | Del | ND |
SPATA8 | - | - | - | - | 3 | Gain | ND |
SPCS1 | - | - | - | - | 3 | Gain | ND |
SPCS3 | - | - | - | - | 3 | Gain | ND |
SPDYC | p.P288S | Missense | SNP | 0.203 | 2 | - | ND |
SPDYE3 | - | - | - | - | 3 | Gain | ND |
SPECC1L | - | - | - | - | 3 | Gain | ND |
SPECC1L-ADORA2A | - | - | - | - | 3 | Gain | ND |
SPEF2 | p.L297F | Missense | SNP | 0.440 | 2 | - | ND |
SPEN | - | - | - | - | 3 | Gain | ND |
SPERT | p.S96F p.E396K | Missense Missense | SNP SNP | 0.277 0.330 | 2 | - | ND |
SPESP1 | - | - | - | - | 3 | Gain | ND |
SPG21 | - | - | - | - | 3 | Gain | ND |
SPG7 | - | - | - | - | 1 | Loss | ND |
SPHAR | - | - | - | - | 3 | Gain | ND |
SPHKAP | p.C1122Y | Missense | SNP | 0.496 | 2 | - | ND |
SPINK4 | - | - | - | - | 0 | Del | ND |
SPIRE2 | - | - | - | - | 1 | Loss | ND |
SPNS2 | p.D362N | Missense | SNP | 0.297 | 2 | - | ND |
SPNS3 | p.G275R | Missense | SNP | 0.507 | 2 | - | ND |
SPOCD1 | p.P261L | Missense | SNP | 0.353 | 3 | Gain | ND |
SPOCK3 | - | - | - | - | 3 | Gain | ND |
SPP1 | - | - | - | - | 1 | Loss | ND |
SPRN | - | - | - | - | 1 | Loss | ND |
SPRR4 | p.S2F | Missense | SNP | 0.239 | 2 | - | ND |
SPRTN | - | - | - | - | 3 | Gain | ND |
SPRY1 | - | - | - | - | 1 | Loss | ND |
SPSB1 | - | - | - | - | 3 | Gain | ND |
SPSB2 | p.R220K | Missense | SNP | 0.665 | 2 | - | ND |
SPTA1 | p.L1745F | Missense | SNP | 0.179 | 3 | Gain | ND |
SPTBN4 | p.R151W | Missense | SNP | 0.478 | 2 | - | ND |
SRARP | - | - | - | - | 3 | Gain | ND |
SRGAP2 | - | - | - | - | 3 | Gain | ND |
SRI | - | - | - | - | 3 | Gain | ND |
SRM | - | - | - | - | 3 | Gain | ND |
SRP9 | - | - | - | - | 3 | Gain | ND |
SRPK2 | - | - | - | - | 3 | Gain | ND |
SRRD | - | - | - | - | 3 | Gain | ND |
SRRM1 | - | - | - | - | 3 | Gain | ND |
SRRM3 | - | - | - | - | 3 | Gain | ND |
SRRT | - | - | - | - | 3 | Gain | ND |
SRSF10 | - | - | - | - | 3 | Gain | ND |
SRSF4 | - | - | - | - | 3 | Gain | ND |
SSC4D | - | - | - | - | 3 | Gain | ND |
SSH1 | p.S648F p.N297K | Missense Missense | SNP SNP | 0.358 0.637 | 2 | - | ND |
SSMEM1 | - | - | - | - | 3 | Gain | ND |
SSPO | p.P1223S p.E1979K | Missense Missense | DNP SNP | 0.259 0.500 | 3 | Gain | ND |
SSR2 | - | - | - | - | 3 | Gain | ND |
SSTR2 | p.M161I | Missense | SNP | 0.337 | 2 | - | ND |
SSTR3 | p.G96R | Missense | SNP | 0.408 | 3 | Gain | ND |
SSU72 | - | - | - | - | 3 | Gain | ND |
SSU72P8 | - | - | - | - | 3 | Gain | ND |
ST13 | - | - | - | - | 3 | Gain | ND |
ST20 | - | - | - | - | 3 | Gain | ND |
ST20-MTHFS | - | - | - | - | 3 | Gain | ND |
ST3GAL2 | - | - | - | - | 1 | Loss | ND |
ST6GAL2 | p.G161E | Missense | SNP | 0.258 | 2 | - | ND |
ST7 | - | - | - | - | 3 | Gain | ND |
ST8SIA2 | - | - | - | - | 3 | Gain | ND |
ST8SIA6 | - | - | - | - | 1 | Loss | ND |
STAB2 | p.R644Q p.V795I | Missense Missense | SNP SNP | 0.267 0.299 | 2 | - | ND |
STAG3 | - | - | - | - | 3 | Gain | ND |
STAM | - | - | - | - | 1 | Loss | ND |
STARD3NL | - | - | - | - | 3 | Gain | ND |
STARD5 | - | - | - | - | 3 | Gain | ND |
STAU1 | p.S101F | Missense | SNP | 0.436 | 2 | - | ND |
STBD1 | - | - | - | - | 1 | Loss | ND |
STEAP1 | - | - | - | - | 3 | Gain | ND |
STEAP1B | - | - | - | - | 3 | Gain | ND |
STEAP2 | - | - | - | - | 3 | Gain | ND |
STEAP4 | - | - | - | - | 3 | Gain | ND |
STK17A | - | - | - | - | 3 | Gain | ND |
STK31 | - | - | - | - | 3 | Gain | ND |
STK32C | - | - | - | - | 1 | Loss | ND |
STK4 | p.X435_splice | Splice_Site | DNP | 0.533 | 2 | - | ND |
STK40 | - | - | - | - | 3 | Gain | ND |
STMN1 | - | - | - | - | 3 | Gain | ND |
STMN2 | p.E10K | Missense | SNP | 0.226 | 2 | - | ND |
STOML1 | - | - | - | - | 3 | Gain | ND |
STOML2 | - | - | - | - | 1 | Loss | ND |
STON1 | p.Q537* | Nonsense | SNP | 0.490 | 2 | - | ND |
STON2 | p.V655A | Missense | SNP | 0.327 | 2 | - | ND |
STOX2 | - | - | - | - | 3 | Gain | ND |
STPG1 | - | - | - | - | 3 | Gain | ND |
STPG2 | - | - | - | - | 1 | Loss | ND |
STRA6 | p.L101F | Missense | SNP | 0.536 | 3 | Gain | ND |
STRC | - | - | - | - | 0 | Del | ND |
STRIP2 | - | - | - | - | 3 | Gain | ND |
STUM | - | - | - | - | 3 | Gain | ND |
STX12 | - | - | - | - | 3 | Gain | ND |
STX1A | - | - | - | - | 3 | Gain | ND |
STX6 | - | - | - | - | 3 | Gain | ND |
STXBP2 | p.P513L | Missense | SNP | 0.552 | 2 | - | ND |
STXBP5L | p.S725F | Missense | SNP | 0.265 | 2 | - | ND |
STYK1 | p.D217N | Missense | SNP | 0.633 | 2 | - | ND |
STYXL1 | - | - | - | - | 3 | Gain | ND |
SUCLA2 | p.S186L | Missense | SNP | 0.323 | 2 | - | ND |
SUCO | - | - | - | - | 3 | Gain | ND |
SUGCT | - | - | - | - | 3 | Gain | ND |
SULF1 | p.S242F p.R595G | Missense Missense | SNP SNP | 0.338 0.470 | 2 | - | ND |
SULT1C2 | p.S102F | Missense | SNP | 0.242 | 2 | - | ND |
SUMF2 | - | - | - | - | 3 | Gain | ND |
SUN1 | - | - | - | - | 3 | Gain | ND |
SUN2 | - | - | - | - | 3 | Gain | ND |
SUN3 | - | - | - | - | 3 | Gain | ND |
SUPT6H | p.R265C | Missense | DNP | 0.361 | 2 | - | ND |
SUSD2 | - | - | - | - | 3 | Gain | ND |
SUSD4 | - | - | - | - | 3 | Gain | ND |
SUV39H2 | - | - | - | - | 1 | Loss | ND |
SV2B | - | - | - | - | 3 | Gain | ND |
SVEP1 | p.S2835T | Missense | SNP | 1.000 | 2 | - | ND |
SVIL | - | - | - | - | 1 | Loss | ND |
SWT1 | p.S480R | Missense | SNP | 0.152 | 3 | Gain | ND |
SYCE1 | - | - | - | - | 1 | Loss | ND |
SYCE1L | - | - | - | - | 1 | Loss | ND |
SYF2 | - | - | - | - | 3 | Gain | ND |
SYN3 | - | - | - | - | 3 | Gain | ND |
SYNC | - | - | - | - | 3 | Gain | ND |
SYNDIG1L | p.E65K | Missense | SNP | 0.287 | 2 | - | ND |
SYNE1 | p.R6817Q p.H4819Y p.W2530* | Missense Missense Nonsense | SNP SNP SNP | 0.578 0.329 0.371 | 2 | - | ND |
SYNGR1 | - | - | - | - | 3 | Gain | ND |
SYNM | - | - | - | - | 3 | Gain | ND |
SYNPO2 | - | - | - | - | 1 | Loss | ND |
SYPL1 | - | - | - | - | 3 | Gain | ND |
SYT11 | - | - | - | - | 3 | Gain | ND |
SYT14 | - | - | - | - | 3 | Gain | ND |
SYT15 | - | - | - | - | 1 | Loss | ND |
SYT2 | - | - | - | - | 3 | Gain | ND |
SYTL1 | - | - | - | - | 3 | Gain | ND |
SZRD1 | - | - | - | - | 3 | Gain | ND |
TAB1 | - | - | - | - | 3 | Gain | ND |
TAC1 | - | - | - | - | 3 | Gain | ND |
TACR3 | p.K332N | Missense | SNP | 1.000 | 1 | Loss | ND |
TADA1 | - | - | - | - | 3 | Gain | ND |
TAF12 | - | - | - | - | 3 | Gain | ND |
TAF1A | - | - | - | - | 3 | Gain | ND |
TAF1C | - | - | - | - | 1 | Loss | ND |
TAF1L | - | - | - | - | 0 | Del | ND |
TAF3 | - | - | - | - | 1 | Loss | ND |
TAF5L | - | - | - | - | 3 | Gain | ND |
TAF6 | - | - | - | - | 3 | Gain | ND |
TAGLN2 | - | - | - | - | 3 | Gain | ND |
TANC2 | p.L1085F | Missense | SNP | 0.336 | 2 | - | ND |
TANGO2 | - | - | - | - | 3 | Gain | ND |
TANGO6 | - | - | - | - | 1 | Loss | ND |
TARBP1 | - | - | - | - | 3 | Gain | ND |
TARDBP | - | - | - | - | 3 | Gain | ND |
TARSL2 | - | - | - | - | 3 | Gain | ND |
TAS1R1 | - | - | - | - | 3 | Gain | ND |
TAS1R2 | - | - | - | - | 3 | Gain | ND |
TAS1R3 | - | - | - | - | 3 | Gain | ND |
TAS2R16 | p.Q5* | Nonsense | SNP | 0.597 | 3 | Gain | ND |
TAT | - | - | - | - | 1 | Loss | ND |
TATDN3 | - | - | - | - | 3 | Gain | ND |
TAX1BP1 | - | - | - | - | 3 | Gain | ND |
TBC1D10A | - | - | - | - | 3 | Gain | ND |
TBC1D21 | - | - | - | - | 3 | Gain | ND |
TBC1D22A | - | - | - | - | 3 | Gain | ND |
TBC1D2B | - | - | - | - | 3 | Gain | ND |
TBC1D9 | p.P1252L | Missense | SNP | 0.280 | 3 | Gain | ND |
TBCE | - | - | - | - | 3 | Gain | ND |
TBCK | - | - | - | - | 1 | Loss | ND |
TBL2 | - | - | - | - | 3 | Gain | ND |
TBRG4 | - | - | - | - | 3 | Gain | ND |
TBX1 | - | - | - | - | 3 | Gain | ND |
TBX10 | p.N79Y | Missense | SNP | 0.344 | 2 | - | ND |
TBX19 | - | - | - | - | 3 | Gain | ND |
TBX20 | - | - | - | - | 3 | Gain | ND |
TCEA3 | - | - | - | - | 3 | Gain | ND |
TCEAL2 | p.R110K | Missense | SNP | 0.490 | ND | ND | ND |
TCF12 | - | - | - | - | 3 | Gain | ND |
TCF25 | p.D301N | Missense | DNP | 0.989 | 1 | Loss | ND |
TCHHL1 | p.E556K | Missense | SNP | 0.525 | 2 | - | ND |
TCN2 | - | - | - | - | 3 | Gain | ND |
TDO2 | - | - | - | - | 3 | Gain | ND |
TDRD10 | - | - | - | - | 3 | Gain | ND |
TDRD12 | p.Q3* | Nonsense | SNP | 0.220 | 2 | - | ND |
TDRD5 | p.W541G | Missense | SNP | 0.807 | 3 | Gain | ND |
TEAD2 | p.L164F | Missense | SNP | 0.471 | 2 | - | ND |
TECPR1 | - | - | - | - | 3 | Gain | ND |
TECTA | p.P1764S | Missense | SNP | 0.333 | 2 | - | ND |
TEDDM1 | - | - | - | - | 3 | Gain | ND |
TEK | - | - | - | - | 0 | Del | ND |
TEKT2 | - | - | - | - | 3 | Gain | ND |
TENM1 | p.G2679E | Missense | SNP | 0.476 | ND | ND | ND |
TENM3 | - | - | - | - | 3 | Gain | ND |
TENM4 | p.R1717Q | Missense | SNP | 0.382 | 2 | - | ND |
TENT4B | - | - | - | - | 1 | Loss | ND |
TENT5B | - | - | - | - | 3 | Gain | ND |
TEPP | - | - | - | - | 1 | Loss | ND |
TERB1 | - | - | - | - | 1 | Loss | ND |
TERF2 | - | - | - | - | 1 | Loss | ND |
TERF2IP | - | - | - | - | 1 | Loss | ND |
TES | - | - | - | - | 3 | Gain | ND |
TESK1 | - | - | - | - | 1 | Loss | ND |
TET2 | - | - | - | - | 1 | Loss | ND |
TET3 | p.S985F | Missense | SNP | 0.429 | 2 | - | ND |
TEX13A | p.D253N | Missense | SNP | 1.000 | ND | ND | ND |
TEX26 | p.L13F | Missense | SNP | 0.244 | 2 | - | ND |
TEX33 | p.E104K | Missense | SNP | 0.468 | 3 | Gain | ND |
TEX35 | - | - | - | - | 3 | Gain | ND |
TEX46 | - | - | - | - | 3 | Gain | ND |
TEX47 | - | - | - | - | 3 | Gain | ND |
TEX50 | - | - | - | - | 3 | Gain | ND |
TEX9 | - | - | - | - | 3 | Gain | ND |
TFAM | - | - | - | - | 1 | Loss | ND |
TFAP2E | - | - | - | - | 3 | Gain | ND |
TFB2M | - | - | - | - | 3 | Gain | ND |
TFCP2 | p.R98Q | Missense | SNP | 0.359 | 2 | - | ND |
TFEC | - | - | - | - | 3 | Gain | ND |
TFIP11 | - | - | - | - | 3 | Gain | ND |
TFPI2 | - | - | - | - | 4 | Gain | ND |
TFR2 | p.E36K | Missense | SNP | 0.465 | 3 | Gain | ND |
TGFB2 | - | - | - | - | 3 | Gain | ND |
TGM3 | p.Y313* | Nonsense | SNP | 0.497 | 2 | - | ND |
THAP10 | - | - | - | - | 3 | Gain | ND |
THAP11 | - | - | - | - | 1 | Loss | ND |
THAP3 | - | - | - | - | 3 | Gain | ND |
THAP5 | - | - | - | - | 3 | Gain | ND |
THAP6 | - | - | - | - | 1 | Loss | ND |
THAP7 | - | - | - | - | 3 | Gain | ND |
THAP9 | - | - | - | - | 1 | Loss | ND |
THBS3 | - | - | - | - | 3 | Gain | ND |
THBS4 | p.D535N | Missense | SNP | 0.592 | 2 | - | ND |
THEM5 | p.E97K | Missense | SNP | 0.712 | 2 | - | ND |
THEMIS2 | - | - | - | - | 3 | Gain | ND |
THNSL1 | - | - | - | - | 1 | Loss | ND |
THOC2 | p.S827L | Missense | SNP | 0.994 | ND | ND | ND |
THOC5 | - | - | - | - | 3 | Gain | ND |
THRAP3 | - | - | - | - | 3 | Gain | ND |
THSD4 | - | - | - | - | 3 | Gain | ND |
THSD7A | p.G1306E | Missense | SNP | 0.173 | 3 | Gain | ND |
THSD7B | p.R544Q | Missense | SNP | 0.585 | 2 | - | ND |
THTPA | - | - | - | - | 1 | Loss | ND |
TICRR | p.R913* | Nonsense | SNP | 0.252 | 3 | Gain | ND |
TIFA | - | - | - | - | 1 | Loss | ND |
TIGD2 | - | - | - | - | 1 | Loss | ND |
TIGD3 | p.E456K | Missense | SNP | 0.714 | 2 | - | ND |
TIGD4 | - | - | - | - | 1 | Loss | ND |
TIMD4 | p.E372K | Missense | SNP | 0.714 | 2 | - | ND |
TIMM17A | - | - | - | - | 3 | Gain | ND |
TIMM23 | - | - | - | - | 1 | Loss | ND |
TIMM23B | - | - | - | - | 1 | Loss | ND |
TIMM44 | p.Q243* | Nonsense | SNP | 0.244 | 2 | - | ND |
TIMP3 | - | - | - | - | 3 | Gain | ND |
TINAG | p.A266T | Missense | SNP | 0.655 | 2 | - | ND |
TINAGL1 | - | - | - | - | 3 | Gain | ND |
TIPIN | - | - | - | - | 3 | Gain | ND |
TIPRL | - | - | - | - | 3 | Gain | ND |
TJP1 | p.R1342W | Missense | SNP | 0.287 | 3 | Gain | ND |
TK2 | - | - | - | - | 1 | Loss | ND |
TKTL2 | - | - | - | - | 3 | Gain | ND |
TLDC1 | - | - | - | - | 1 | Loss | ND |
TLE3 | - | - | - | - | 3 | Gain | ND |
TLE7 | - | - | - | - | 1 | Loss | ND |
TLK2 | p.Q204* | Nonsense | SNP | 0.263 | 2 | - | ND |
TLL1 | - | - | - | - | 3 | Gain | ND |
TLN1 | - | - | - | - | 1 | Loss | ND |
TLN2 | - | - | - | - | 3 | Gain | ND |
TLNRD1 | - | - | - | - | 3 | Gain | ND |
TLR2 | - | - | - | - | 1 | Loss | ND |
TLR3 | - | - | - | - | 3 | Gain | ND |
TLR4 | p.P539S | Missense | SNP | 1.000 | 2 | - | ND |
TLR5 | - | - | - | - | 3 | Gain | ND |
TLR8 | p.L932F | Missense | SNP | 1.000 | ND | ND | ND |
TM2D3 | - | - | - | - | 3 | Gain | ND |
TM6SF1 | - | - | - | - | 3 | Gain | ND |
TM7SF3 | p.X31_splice | Splice_Site | SNP | 0.428 | 2 | - | ND |
TMA16 | - | - | - | - | 3 | Gain | ND |
TMBIM1 | p.T237F | Missense | DNP | 0.517 | 2 | - | ND |
TMC2 | p.L782F | Missense | SNP | 0.212 | 2 | - | ND |
TMC3 | p.G405E | Missense | SNP | 0.553 | 3 | Gain | ND |
TMCC2 | - | - | - | - | 3 | Gain | ND |
TMCO1 | - | - | - | - | 3 | Gain | ND |
TMCO4 | - | - | - | - | 3 | Gain | ND |
TMED3 | - | - | - | - | 3 | Gain | ND |
TMED4 | - | - | - | - | 3 | Gain | ND |
TMED6 | - | - | - | - | 1 | Loss | ND |
TMEM106B | - | - | - | - | 3 | Gain | ND |
TMEM120A | - | - | - | - | 3 | Gain | ND |
TMEM121B | - | - | - | - | 3 | Gain | ND |
TMEM130 | p.R336K | Missense | SNP | 0.330 | 3 | Gain | ND |
TMEM131L | - | - | - | - | 1 | Loss | ND |
TMEM135 | p.Q269* | Nonsense | SNP | 0.689 | 2 | - | ND |
TMEM136 | p.L139F | Missense | SNP | 0.349 | 2 | - | ND |
TMEM144 | - | - | - | - | 3 | Gain | ND |
TMEM150C | - | - | - | - | 1 | Loss | ND |
TMEM154 | - | - | - | - | 1 | Loss | ND |
TMEM155 | - | - | - | - | 1 | Loss | ND |
TMEM158 | p.G21R | Missense | SNP | 0.256 | 2 | - | ND |
TMEM168 | - | - | - | - | 3 | Gain | ND |
TMEM170A | - | - | - | - | 1 | Loss | ND |
TMEM174 | p.D110N | Missense | SNP | 0.368 | 2 | - | ND |
TMEM176A | - | - | - | - | 3 | Gain | ND |
TMEM176B | - | - | - | - | 3 | Gain | ND |
TMEM183A | - | - | - | - | 3 | Gain | ND |
TMEM184A | - | - | - | - | 3 | Gain | ND |
TMEM184B | - | - | - | - | 3 | Gain | ND |
TMEM184C | - | - | - | - | 3 | Gain | ND |
TMEM191B | - | - | - | - | 3 | Gain | ND |
TMEM191C | - | - | - | - | 3 | Gain | ND |
TMEM192 | - | - | - | - | 3 | Gain | ND |
TMEM196 | - | - | - | - | 3 | Gain | ND |
TMEM200B | - | - | - | - | 3 | Gain | ND |
TMEM201 | - | - | - | - | 3 | Gain | ND |
TMEM202 | - | - | - | - | 3 | Gain | ND |
TMEM203 | p.S68F | Missense | SNP | 1.000 | 2 | - | ND |
TMEM206 | - | - | - | - | 3 | Gain | ND |
TMEM208 | - | - | - | - | 1 | Loss | ND |
TMEM209 | - | - | - | - | 3 | Gain | ND |
TMEM211 | - | - | - | - | 3 | Gain | ND |
TMEM215 | - | - | - | - | 0 | Del | ND |
TMEM222 | - | - | - | - | 3 | Gain | ND |
TMEM225B | - | - | - | - | 3 | Gain | ND |
TMEM229A | - | - | - | - | 3 | Gain | ND |
TMEM231 | - | - | - | - | 1 | Loss | ND |
TMEM234 | - | - | - | - | 3 | Gain | ND |
TMEM236 | - | - | - | - | 1 | Loss | ND |
TMEM240 | - | - | - | - | 3 | Gain | ND |
TMEM243 | - | - | - | - | 4 | Gain | ND |
TMEM248 | - | - | - | - | 3 | Gain | ND |
TMEM266 | - | - | - | - | 3 | Gain | ND |
TMEM267 | - | - | - | - | 3 | Gain | ND |
TMEM270 | - | - | - | - | 3 | Gain | ND |
TMEM273 | - | - | - | - | 1 | Loss | ND |
TMEM35B | - | - | - | - | 3 | Gain | ND |
TMEM39B | - | - | - | - | 3 | Gain | ND |
TMEM40 | p.S64F | Missense | SNP | 0.354 | 2 | - | ND |
TMEM50A | - | - | - | - | 3 | Gain | ND |
TMEM51 | - | - | - | - | 3 | Gain | ND |
TMEM52 | - | - | - | - | 3 | Gain | ND |
TMEM54 | - | - | - | - | 3 | Gain | ND |
TMEM60 | - | - | - | - | 4 | Gain | ND |
TMEM63A | - | - | - | - | 3 | Gain | ND |
TMEM63C | p.E721K | Missense | SNP | 0.410 | 2 | - | ND |
TMEM72 | - | - | - | - | 1 | Loss | ND |
TMEM74 | p.D32N | Missense | SNP | 0.390 | 2 | - | ND |
TMEM79 | - | - | - | - | 3 | Gain | ND |
TMEM81 | - | - | - | - | 3 | Gain | ND |
TMEM82 | - | - | - | - | 3 | Gain | ND |
TMEM88B | - | - | - | - | 3 | Gain | ND |
TMEM8B | - | - | - | - | 1 | Loss | ND |
TMEM9 | - | - | - | - | 3 | Gain | ND |
TMPRSS11F | p.R274Q | Missense | SNP | 0.375 | 2 | - | ND |
TMPRSS15 | p.D670N p.P521S p.D493N | Missense Missense Missense | SNP SNP SNP | 0.347 0.307 0.353 | 2 | - | ND |
TMPRSS6 | - | - | - | - | 3 | Gain | ND |
TMPRSS9 | p.G1000N | Missense | DNP | 0.533 | 2 | - | ND |
TMUB1 | - | - | - | - | 3 | Gain | ND |
TNFRSF14 | - | - | - | - | 3 | Gain | ND |
TNFRSF18 | - | - | - | - | 3 | Gain | ND |
TNFRSF1B | - | - | - | - | 3 | Gain | ND |
TNFRSF25 | p.Q101* | Nonsense | SNP | 0.340 | 3 | Gain | ND |
TNFRSF4 | - | - | - | - | 3 | Gain | ND |
TNFRSF8 | - | - | - | - | 3 | Gain | ND |
TNFRSF9 | - | - | - | - | 3 | Gain | ND |
TNFSF18 | - | - | - | - | 3 | Gain | ND |
TNFSF4 | - | - | - | - | 3 | Gain | ND |
TNIP2 | - | - | - | - | 3 | Gain | ND |
TNIP3 | - | - | - | - | 1 | Loss | ND |
TNN | - | - | - | - | 3 | Gain | ND |
TNNI1 | - | - | - | - | 3 | Gain | ND |
TNNT2 | - | - | - | - | 3 | Gain | ND |
TNPO3 | - | - | - | - | 3 | Gain | ND |
TNR | p.E544K | Missense | SNP | 0.810 | 3 | Gain | ND |
TNRC18 | - | - | - | - | 3 | Gain | ND |
TNRC6B | - | - | - | - | 3 | Gain | ND |
TNS3 | - | - | - | - | 3 | Gain | ND |
TNXB | p.S2002F | Missense | SNP | 0.283 | 1 | Loss | ND |
TOM1 | p.S123F | Missense | SNP | 0.244 | 3 | Gain | ND |
TOMM20 | - | - | - | - | 3 | Gain | ND |
TOMM22 | - | - | - | - | 3 | Gain | ND |
TOMM40L | - | - | - | - | 3 | Gain | ND |
TOMM5 | - | - | - | - | 1 | Loss | ND |
TOMM7 | - | - | - | - | 3 | Gain | ND |
TOP3B | - | - | - | - | 3 | Gain | ND |
TOPORS | - | - | - | - | 0 | Del | ND |
TOR1AIP1 | - | - | - | - | 3 | Gain | ND |
TOR1AIP2 | - | - | - | - | 3 | Gain | ND |
TOR3A | - | - | - | - | 3 | Gain | ND |
TOX3 | - | - | - | - | 1 | Loss | ND |
TP53 | p.R110C | Missense | SNP | 0.267 | 2 | - | ND |
TP53BP2 | - | - | - | - | 3 | Gain | ND |
TP73 | - | - | - | - | 3 | Gain | ND |
TPD52L3 | - | - | - | - | 0 | Del | ND |
TPK1 | - | - | - | - | 3 | Gain | ND |
TPM1 | - | - | - | - | 3 | Gain | ND |
TPM2 | - | - | - | - | 1 | Loss | ND |
TPM3 | - | - | - | - | 3 | Gain | ND |
TPPP3 | - | - | - | - | 1 | Loss | ND |
TPR | - | - | - | - | 3 | Gain | ND |
TPRG1L | - | - | - | - | 3 | Gain | ND |
TPST1 | - | - | - | - | 3 | Gain | ND |
TPST2 | - | - | - | - | 3 | Gain | ND |
TPTEP2-CSNK1E | - | - | - | - | 3 | Gain | ND |
TRA2A | - | - | - | - | 3 | Gain | ND |
TRADD | - | - | - | - | 1 | Loss | ND |
TRAF3IP3 | p.E193K | Missense | SNP | 0.182 | 3 | Gain | ND |
TRAF5 | - | - | - | - | 3 | Gain | ND |
TRAM1L1 | - | - | - | - | 1 | Loss | ND |
TRANK1 | p.L1418F | Missense | SNP | 0.210 | 2 | - | ND |
TRAPPC10 | p.E735* | Nonsense | SNP | 0.645 | 2 | - | ND |
TRAPPC11 | - | - | - | - | 3 | Gain | ND |
TRAPPC2L | - | - | - | - | 1 | Loss | ND |
TRAPPC3 | - | - | - | - | 3 | Gain | ND |
TRAV12-1 | p.S51F p.S93F | Missense Missense | SNP SNP | 0.408 0.369 | ND | ND | ND |
TRBV2 | p.S67F | Missense | SNP | 0.403 | ND | ND | ND |
TRDMT1 | - | - | - | - | 1 | Loss | ND |
TRHR | p.D237N | Missense | SNP | 0.609 | 2 | - | ND |
TRIL | - | - | - | - | 3 | Gain | ND |
TRIM11 | - | - | - | - | 3 | Gain | ND |
TRIM17 | - | - | - | - | 3 | Gain | ND |
TRIM2 | - | - | - | - | 1 | Loss | ND |
TRIM22 | p.R476* | Nonsense | SNP | 0.640 | 2 | - | ND |
TRIM24 | p.N995K | Missense | SNP | 0.688 | ND | ND | ND |
TRIM4 | - | - | - | - | 3 | Gain | ND |
TRIM41 | - | - | - | - | 1 | Loss | ND |
TRIM46 | - | - | - | - | 3 | Gain | ND |
TRIM50 | - | - | - | - | 3 | Gain | ND |
TRIM52 | - | - | - | - | 1 | Loss | ND |
TRIM56 | - | - | - | - | 3 | Gain | ND |
TRIM58 | - | - | - | - | 3 | Gain | ND |
TRIM60 | - | - | - | - | 3 | Gain | ND |
TRIM61 | - | - | - | - | 3 | Gain | ND |
TRIM62 | - | - | - | - | 3 | Gain | ND |
TRIM63 | - | - | - | - | 3 | Gain | ND |
TRIM64B | p.S379F | Missense | SNP | 0.140 | 2 | - | ND |
TRIM67 | - | - | - | - | 3 | Gain | ND |
TRIM7 | - | - | - | - | 1 | Loss | ND |
TRIM71 | p.S396F | Missense | SNP | 0.205 | 2 | - | ND |
TRIM73 | - | - | - | - | 3 | Gain | ND |
TRIM74 | - | - | - | - | 3 | Gain | ND |
TRIM75P | - | - | - | - | 3 | Gain | ND |
TRIML1 | p.E45K | Missense | SNP | 0.549 | 3 | Gain | ND |
TRIML2 | - | - | - | - | 3 | Gain | ND |
TRIOBP | - | - | - | - | 3 | Gain | ND |
TRIP10 | p.L569F | Missense | SNP | 0.500 | 2 | - | ND |
TRIP4 | - | - | - | - | 3 | Gain | ND |
TRIP6 | - | - | - | - | 3 | Gain | ND |
TRMT10A | - | - | - | - | 1 | Loss | ND |
TRMT10B | - | - | - | - | 1 | Loss | ND |
TRMT1L | - | - | - | - | 3 | Gain | ND |
TRMT2A | - | - | - | - | 3 | Gain | ND |
TRMU | - | - | - | - | 3 | Gain | ND |
TRNAU1AP | - | - | - | - | 3 | Gain | ND |
TRNP1 | - | - | - | - | 3 | Gain | ND |
TROAP | p.S123F | Missense | SNP | 0.372 | 2 | - | ND |
TROVE2 | - | - | - | - | 3 | Gain | ND |
TRPC3 | - | - | - | - | 1 | Loss | ND |
TRPM1 | p.S1601F | Missense | SNP | 0.377 | 3 | Gain | ND |
TRPM6 | p.S504L | Missense | SNP | 1.000 | 2 | - | ND |
TRPV5 | p.R589K | Missense | SNP | 0.357 | ND | ND | ND |
TRRAP | - | - | - | - | 3 | Gain | ND |
TRUB2 | p.R271K | Missense | SNP | 1.000 | 2 | - | ND |
TSACC | - | - | - | - | 3 | Gain | ND |
TSC22D4 | - | - | - | - | 3 | Gain | ND |
TSEN15 | - | - | - | - | 3 | Gain | ND |
TSGA13 | - | - | - | - | 3 | Gain | ND |
TSHR | p.D487N | Missense | SNP | 0.249 | 2 | - | ND |
TSHZ3 | p.S525F | Missense | SNP | 0.468 | 2 | - | ND |
TSKS | p.G413E | Missense | SNP | 0.479 | 2 | - | ND |
TSKU | p.A10V | Missense | SNP | 0.291 | 2 | - | ND |
TSNAX | - | - | - | - | 3 | Gain | ND |
TSNAX-DISC1 | - | - | - | - | 3 | Gain | ND |
TSNAXIP1 | - | - | - | - | 1 | Loss | ND |
TSPAN12 | - | - | - | - | 3 | Gain | ND |
TSPAN13 | - | - | - | - | 3 | Gain | ND |
TSPAN3 | - | - | - | - | 3 | Gain | ND |
TSPAN33 | - | - | - | - | 3 | Gain | ND |
TSPAN5 | - | - | - | - | 1 | Loss | ND |
TSPAN8 | p.I116N | Missense | SNP | 0.329 | 2 | - | ND |
TSR1 | p.R279* | Nonsense | SNP | 0.365 | 2 | - | ND |
TSSK2 | - | - | - | - | 3 | Gain | ND |
TSSK3 | - | - | - | - | 3 | Gain | ND |
TST | - | - | - | - | 3 | Gain | ND |
TSTD1 | - | - | - | - | 3 | Gain | ND |
TTC12 | p.A83V | Missense | SNP | 0.308 | 2 | - | ND |
TTC13 | - | - | - | - | 3 | Gain | ND |
TTC23 | - | - | - | - | 3 | Gain | ND |
TTC24 | - | - | - | - | 3 | Gain | ND |
TTC28 | - | - | - | - | 3 | Gain | ND |
TTC29 | p.H187Y | Missense | SNP | 0.591 | 3 | Gain | ND |
TTC33 | - | - | - | - | 3 | Gain | ND |
TTC34 | - | - | - | - | 3 | Gain | ND |
TTC38 | - | - | - | - | 3 | Gain | ND |
TTC39B | - | - | - | - | 0 | Del | ND |
TTC6 | p.E114K | Missense | SNP | 0.356 | 2 | - | ND |
TTLL10 | - | - | - | - | 3 | Gain | ND |
TTLL13P | - | - | - | - | 3 | Gain | ND |
TTN | p.R18451Q p.P13543H p.E12021K p.E11603K p.E11348K p.P11338T p.E9872K p.D9800N p.W9052L p.W8784* p.E4087K p.R2540C p.I2504V p.S1542L p.E923K | Missense Missense Missense Missense Missense Missense Missense Missense Missense Nonsense Missense Missense Missense Missense Missense | SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP | 0.229 0.162 0.284 0.199 0.506 0.185 0.273 0.414 0.471 0.494 0.221 0.232 0.437 0.424 0.286 | 2 | - | ND |
TTYH3 | - | - | - | - | 3 | Gain | ND |
TUBA8 | - | - | - | - | 3 | Gain | ND |
TUBAL3 | - | - | - | - | 1 | Loss | ND |
TUBB3 | - | - | - | - | 1 | Loss | ND |
TUBB8 | - | - | - | - | 1 | Loss | ND |
TUBGCP2 | - | - | - | - | 1 | Loss | ND |
TUBGCP5 | - | - | - | - | 3 | Gain | ND |
TUBGCP6 | p.S629Y | Missense | DNP | 0.490 | 2 | - | ND |
TULP2 | p.R170Q | Missense | SNP | 0.195 | 2 | - | ND |
TUSC1 | - | - | - | - | 0 | Del | ND |
TWIST1 | - | - | - | - | 3 | Gain | ND |
TWISTNB | - | - | - | - | 3 | Gain | ND |
TXK | p.P268L | Missense | SNP | 0.253 | 2 | - | ND |
TXLNA | - | - | - | - | 3 | Gain | ND |
TXN2 | - | - | - | - | 3 | Gain | ND |
TXNDC16 | p.P115S | Missense | SNP | 0.368 | 2 | - | ND |
TXNL4B | - | - | - | - | 1 | Loss | ND |
TXNRD2 | - | - | - | - | 3 | Gain | ND |
TYRP1 | - | - | - | - | 0 | Del | ND |
TYW1 | - | - | - | - | 3 | Gain | ND |
TYW1B | p.E242K | Missense | SNP | 0.160 | 3 | Gain | ND |
UACA | - | - | - | - | 3 | Gain | ND |
UAP1 | - | - | - | - | 3 | Gain | ND |
UBAP1 | - | - | - | - | 0 | Del | ND |
UBAP1L | - | - | - | - | 3 | Gain | ND |
UBAP2 | - | - | - | - | 0 | Del | ND |
UBAP2L | - | - | - | - | 3 | Gain | ND |
UBE2D1 | - | - | - | - | 1 | Loss | ND |
UBE2D3 | - | - | - | - | 1 | Loss | ND |
UBE2D4 | - | - | - | - | 3 | Gain | ND |
UBE2H | - | - | - | - | 3 | Gain | ND |
UBE2J2 | - | - | - | - | 3 | Gain | ND |
UBE2L3 | - | - | - | - | 3 | Gain | ND |
UBE2Q1 | - | - | - | - | 3 | Gain | ND |
UBE2Q2 | - | - | - | - | 3 | Gain | ND |
UBE2Q2L | - | - | - | - | 3 | Gain | ND |
UBE2QL1 | p.E149K | Missense | SNP | 0.249 | 2 | - | ND |
UBE2R2 | - | - | - | - | 0 | Del | ND |
UBE2T | - | - | - | - | 3 | Gain | ND |
UBE3A | - | - | - | - | 3 | Gain | ND |
UBE3C | - | - | - | - | 3 | Gain | ND |
UBE4B | - | - | - | - | 3 | Gain | ND |
UBIAD1 | - | - | - | - | 3 | Gain | ND |
UBL7 | - | - | - | - | 3 | Gain | ND |
UBN2 | p.R247C | Missense | SNP | 0.117 | ND | ND | ND |
UBQLN4 | - | - | - | - | 3 | Gain | ND |
UBR4 | - | - | - | - | 3 | Gain | ND |
UBXN10 | - | - | - | - | 3 | Gain | ND |
UBXN11 | - | - | - | - | 3 | Gain | ND |
UCHL5 | - | - | - | - | 3 | Gain | ND |
UCK2 | - | - | - | - | 3 | Gain | ND |
UCMA | - | - | - | - | 1 | Loss | ND |
UCN3 | - | - | - | - | 1 | Loss | ND |
UCP1 | - | - | - | - | 3 | Gain | ND |
UFC1 | - | - | - | - | 3 | Gain | ND |
UFD1 | - | - | - | - | 3 | Gain | ND |
UFSP1 | - | - | - | - | 3 | Gain | ND |
UFSP2 | - | - | - | - | 3 | Gain | ND |
UGT1A10 | p.S122L | Missense | SNP | 0.239 | 2 | - | ND |
UGT2A3 | p.P387S | Missense | SNP | 0.425 | 2 | - | ND |
UGT2B15 | p.D493N | Missense | SNP | 0.258 | 2 | - | ND |
UGT8 | - | - | - | - | 1 | Loss | ND |
UHMK1 | - | - | - | - | 3 | Gain | ND |
UHRF2 | - | - | - | - | 0 | Del | ND |
ULK3 | - | - | - | - | 3 | Gain | ND |
ULK4 | p.S1110F | Missense | SNP | 0.309 | 2 | - | ND |
UMAD1 | - | - | - | - | 3 | Gain | ND |
UNC13B | - | - | - | - | 1 | Loss | ND |
UNC13C | p.E85D p.D919N p.L2203P | Missense Missense Missense | SNP SNP SNP | 0.439 0.362 0.567 | 3 | Gain | ND |
UNC45A | - | - | - | - | 3 | Gain | ND |
UNC5C | - | - | - | - | 1 | Loss | ND |
UNC5D | p.Q910* | Nonsense | SNP | 0.710 | 2 | - | ND |
UNC80 | p.D1373N p.E2185K | Missense Missense | SNP SNP | 0.143 0.244 | 2 | - | ND |
UNCX | - | - | - | - | 3 | Gain | ND |
UPB1 | - | - | - | - | 3 | Gain | ND |
UPF2 | - | - | - | - | 1 | Loss | ND |
UPK3B | - | - | - | - | 3 | Gain | ND |
UPK3BL1 | - | - | - | - | 3 | Gain | ND |
UPP1 | - | - | - | - | 3 | Gain | ND |
UQCR10 | - | - | - | - | 3 | Gain | ND |
UQCRHL | - | - | - | - | 3 | Gain | ND |
URB2 | - | - | - | - | 3 | Gain | ND |
URGCP | - | - | - | - | 3 | Gain | ND |
URGCP-MRPS24 | - | - | - | - | 3 | Gain | ND |
UROC1 | p.A196V | Missense | SNP | 0.457 | 2 | - | ND |
USB1 | - | - | - | - | 1 | Loss | ND |
USF1 | - | - | - | - | 3 | Gain | ND |
USH2A | p.R2509W p.P1531S | Missense Missense | SNP SNP | 0.181 0.842 | 3 | Gain | ND |
USHBP1 | p.L269F | Missense | SNP | 0.228 | 2 | - | ND |
USO1 | - | - | - | - | 1 | Loss | ND |
USP10 | - | - | - | - | 1 | Loss | ND |
USP18 | - | - | - | - | 3 | Gain | ND |
USP19 | p.P289L | Missense | SNP | 0.306 | 2 | - | ND |
USP21 | - | - | - | - | 3 | Gain | ND |
USP26 | p.S787F | Missense | SNP | 0.439 | ND | ND | ND |
USP3 | - | - | - | - | 3 | Gain | ND |
USP38 | - | - | - | - | 3 | Gain | ND |
USP41 | p.G61E | Missense | SNP | 0.218 | 3 | Gain | ND |
USP42 | - | - | - | - | 3 | Gain | ND |
USP43 | p.E316K | Missense | SNP | 0.264 | 2 | - | ND |
USP46 | p.R60W | Missense | SNP | 0.231 | 2 | - | ND |
USP48 | - | - | - | - | 3 | Gain | ND |
USP53 | - | - | - | - | 1 | Loss | ND |
USP6NL | - | - | - | - | 1 | Loss | ND |
UTF1 | - | - | - | - | 1 | Loss | ND |
UTP14C | p.D601Y | Missense | SNP | 0.293 | 2 | - | ND |
UTP25 | - | - | - | - | 3 | Gain | ND |
UTP4 | - | - | - | - | 1 | Loss | ND |
UTS2 | - | - | - | - | 3 | Gain | ND |
VAC14 | - | - | - | - | 1 | Loss | ND |
VAMP3 | - | - | - | - | 3 | Gain | ND |
VAMP4 | - | - | - | - | 3 | Gain | ND |
VANGL2 | - | - | - | - | 3 | Gain | ND |
VASH2 | - | - | - | - | 3 | Gain | ND |
VAT1L | - | - | - | - | 1 | Loss | ND |
VCP | - | - | - | - | 1 | Loss | ND |
VEGFC | - | - | - | - | 3 | Gain | ND |
VENTX | - | - | - | - | 1 | Loss | ND |
VGF | - | - | - | - | 3 | Gain | ND |
VHLL | - | - | - | - | 3 | Gain | ND |
VIM | - | - | - | - | 1 | Loss | ND |
VIPR1 | p.D362N | Missense | SNP | 0.506 | 2 | - | ND |
VIPR2 | - | - | - | - | 3 | Gain | ND |
VKORC1L1 | - | - | - | - | 3 | Gain | ND |
VLDLR | - | - | - | - | 0 | Del | ND |
VOPP1 | - | - | - | - | 3 | Gain | ND |
VPREB1 | - | - | - | - | 3 | Gain | ND |
VPREB3 | - | - | - | - | 3 | Gain | ND |
VPS13A | p.D2685N | Missense | SNP | 0.627 | 2 | - | ND |
VPS13C | - | - | - | - | 3 | Gain | ND |
VPS13D | - | - | - | - | 3 | Gain | ND |
VPS33A | p.R70C | Missense | SNP | 0.516 | 2 | - | ND |
VPS33B | - | - | - | - | 3 | Gain | ND |
VPS35 | - | - | - | - | 1 | Loss | ND |
VPS37D | - | - | - | - | 3 | Gain | ND |
VPS41 | - | - | - | - | 3 | Gain | ND |
VPS4A | - | - | - | - | 1 | Loss | ND |
VPS50 | - | - | - | - | 4 | Gain | ND |
VPS9D1 | - | - | - | - | 1 | Loss | ND |
VRTN | p.Q559* | Nonsense | SNP | 0.310 | 2 | - | ND |
VSIG8 | - | - | - | - | 3 | Gain | ND |
VSTM2A | - | - | - | - | 3 | Gain | ND |
VSTM4 | - | - | - | - | 1 | Loss | ND |
VTCN1 | p.P171T | Missense | SNP | 0.770 | 2 | - | ND |
VWA1 | - | - | - | - | 3 | Gain | ND |
VWA5B1 | - | - | - | - | 3 | Gain | ND |
VWC2 | - | - | - | - | 3 | Gain | ND |
VWDE | p.S626L | Missense | SNP | 0.155 | 3 | Gain | ND |
VWF | p.P2694S | Missense | SNP | 0.366 | 2 | - | ND |
WAC | - | - | - | - | 1 | Loss | ND |
WAS | p.W500* | Nonsense | SNP | 0.431 | ND | ND | ND |
WASF2 | - | - | - | - | 3 | Gain | ND |
WASHC2A | - | - | - | - | 1 | Loss | ND |
WASHC2C | - | - | - | - | 1 | Loss | ND |
WASL | - | - | - | - | 3 | Gain | ND |
WBP1 | p.F34L | Missense | SNP | 0.463 | 2 | - | ND |
WDFY3 | - | - | - | - | 1 | Loss | ND |
WDFY4 | p.S1007F | Missense | SNP | 0.462 | 1 | Loss | ND |
WDR1 | p.P417L | Missense | SNP | 0.484 | 2 | - | ND |
WDR17 | - | - | - | - | 3 | Gain | ND |
WDR18 | p.P352S | Missense | SNP | 0.375 | 2 | - | ND |
WDR26 | - | - | - | - | 3 | Gain | ND |
WDR35 | p.V373L | Missense | SNP | 0.381 | 2 | - | ND |
WDR37 | - | - | - | - | 1 | Loss | ND |
WDR59 | - | - | - | - | 1 | Loss | ND |
WDR60 | - | - | - | - | 3 | Gain | ND |
WDR61 | - | - | - | - | 3 | Gain | ND |
WDR64 | - | - | - | - | 3 | Gain | ND |
WDR66 | p.P881L | Missense | SNP | 0.422 | 2 | - | ND |
WDR70 | - | - | - | - | 3 | Gain | ND |
WDR72 | - | - | - | - | 3 | Gain | ND |
WDR73 | - | - | - | - | 3 | Gain | ND |
WDR86 | - | - | - | - | 3 | Gain | ND |
WDR87 | p.M1862I p.E1328K | Missense Missense | SNP SNP | 0.524 0.260 | 2 | - | ND |
WDR93 | - | - | - | - | 3 | Gain | ND |
WDTC1 | - | - | - | - | 3 | Gain | ND |
WEE2 | p.G421R | Missense | SNP | 0.340 | ND | ND | ND |
WFDC1 | - | - | - | - | 1 | Loss | ND |
WHAMM | - | - | - | - | 3 | Gain | ND |
WIPF3 | - | - | - | - | 3 | Gain | ND |
WIPI2 | - | - | - | - | 3 | Gain | ND |
WNT16 | - | - | - | - | 3 | Gain | ND |
WNT2 | - | - | - | - | 3 | Gain | ND |
WNT3A | - | - | - | - | 3 | Gain | ND |
WNT4 | - | - | - | - | 3 | Gain | ND |
WNT6 | p.R244C | Missense | SNP | 0.165 | 2 | - | ND |
WNT7B | - | - | - | - | 3 | Gain | ND |
WNT9A | - | - | - | - | 3 | Gain | ND |
WRAP73 | - | - | - | - | 3 | Gain | ND |
WWC2 | - | - | - | - | 3 | Gain | ND |
WWOX | p.L225F | Missense | SNP | 0.521 | 1 | Loss | ND |
WWP2 | - | - | - | - | 1 | Loss | ND |
XBP1 | - | - | - | - | 3 | Gain | ND |
XCL1 | - | - | - | - | 3 | Gain | ND |
XCL2 | - | - | - | - | 3 | Gain | ND |
XDH | p.G458E | Missense | SNP | 0.236 | 2 | - | ND |
XIRP1 | p.M1060I | Missense | SNP | 0.505 | 2 | - | ND |
XIRP2 | p.H341Y p.E568K | Missense Missense | SNP SNP | 0.505 0.176 | 2 | - | ND |
XKR3 | - | - | - | - | 3 | Gain | ND |
XKR5 | p.G558S | Missense | SNP | 0.349 | 2 | - | ND |
XKR8 | - | - | - | - | 3 | Gain | ND |
XPNPEP3 | - | - | - | - | 3 | Gain | ND |
XPR1 | - | - | - | - | 3 | Gain | ND |
XRCC2 | - | - | - | - | 3 | Gain | ND |
XYLT1 | p.M445I | Missense | SNP | 0.358 | 2 | - | ND |
YAE1 | - | - | - | - | 3 | Gain | ND |
YARS | - | - | - | - | 3 | Gain | ND |
YDJC | - | - | - | - | 3 | Gain | ND |
YEATS2 | p.P472L | Missense | SNP | 0.452 | 2 | - | ND |
YKT6 | - | - | - | - | 3 | Gain | ND |
YME1L1 | - | - | - | - | 1 | Loss | ND |
YOD1 | - | - | - | - | 3 | Gain | ND |
YPEL1 | - | - | - | - | 3 | Gain | ND |
YTHDF2 | - | - | - | - | 3 | Gain | ND |
YWHAG | - | - | - | - | 3 | Gain | ND |
YWHAH | - | - | - | - | 3 | Gain | ND |
YY1AP1 | - | - | - | - | 3 | Gain | ND |
Z82190.2 | - | - | - | - | 3 | Gain | ND |
Z83844.1 | - | - | - | - | 3 | Gain | ND |
Z83844.3 | - | - | - | - | 3 | Gain | ND |
ZAN | p.Q2530* | Nonsense | SNP | 0.548 | 3 | Gain | ND |
ZBED4 | - | - | - | - | 3 | Gain | ND |
ZBED6 | - | - | - | - | 3 | Gain | ND |
ZBED6CL | - | - | - | - | 3 | Gain | ND |
ZBTB17 | - | - | - | - | 3 | Gain | ND |
ZBTB18 | - | - | - | - | 3 | Gain | ND |
ZBTB22 | p.M524I | Missense | SNP | 0.613 | 2 | - | ND |
ZBTB37 | - | - | - | - | 3 | Gain | ND |
ZBTB4 | p.P288L | Missense | SNP | 0.374 | 2 | - | ND |
ZBTB40 | - | - | - | - | 3 | Gain | ND |
ZBTB41 | - | - | - | - | 3 | Gain | ND |
ZBTB43 | p.P13S | Missense | SNP | 0.656 | 2 | - | ND |
ZBTB47 | p.P408S | Missense | SNP | 0.286 | 2 | - | ND |
ZBTB48 | - | - | - | - | 3 | Gain | ND |
ZBTB5 | - | - | - | - | 1 | Loss | ND |
ZBTB7B | - | - | - | - | 3 | Gain | ND |
ZBTB8A | - | - | - | - | 3 | Gain | ND |
ZBTB8B | - | - | - | - | 3 | Gain | ND |
ZBTB8OS | - | - | - | - | 3 | Gain | ND |
ZC3H11A | - | - | - | - | 3 | Gain | ND |
ZC3H12A | - | - | - | - | 3 | Gain | ND |
ZC3H18 | - | - | - | - | 1 | Loss | ND |
ZC3HC1 | - | - | - | - | 3 | Gain | ND |
ZC4H2 | p.K102E | Missense | SNP | 0.571 | ND | ND | ND |
ZCCHC14 | - | - | - | - | 1 | Loss | ND |
ZCCHC17 | - | - | - | - | 3 | Gain | ND |
ZCCHC7 | - | - | - | - | 1 | Loss | ND |
ZCWPW1 | - | - | - | - | 3 | Gain | ND |
ZCWPW2 | p.W150* | Nonsense | SNP | 0.473 | 2 | - | ND |
ZDBF2 | p.R2047Q | Missense | DNP | 0.513 | 2 | - | ND |
ZDHHC1 | - | - | - | - | 1 | Loss | ND |
ZDHHC18 | - | - | - | - | 3 | Gain | ND |
ZDHHC21 | - | - | - | - | 0 | Del | ND |
ZDHHC4 | - | - | - | - | 3 | Gain | ND |
ZDHHC6 | p.S376T | Missense | SNP | 1.000 | 2 | - | ND |
ZDHHC7 | - | - | - | - | 1 | Loss | ND |
ZDHHC8 | - | - | - | - | 3 | Gain | ND |
ZEB1 | - | - | - | - | 1 | Loss | ND |
ZFAND2A | - | - | - | - | 3 | Gain | ND |
ZFAND4 | - | - | - | - | 1 | Loss | ND |
ZFAND6 | - | - | - | - | 3 | Gain | ND |
ZFHX2 | - | - | - | - | 1 | Loss | ND |
ZFHX3 | p.L32F | Missense | SNP | 1.000 | 1 | Loss | ND |
ZFHX4 | p.S2565F | Missense | SNP | 0.220 | 2 | - | ND |
ZFP1 | - | - | - | - | 1 | Loss | ND |
ZFP2 | p.E2K | Missense | SNP | 0.389 | 2 | - | ND |
ZFP42 | - | - | - | - | 3 | Gain | ND |
ZFP90 | - | - | - | - | 1 | Loss | ND |
ZFPM1 | - | - | - | - | 1 | Loss | ND |
ZFPM2 | p.P676L | Missense | SNP | 0.495 | 2 | - | ND |
ZFR2 | p.P54S | Missense | SNP | 0.512 | 2 | - | ND |
ZFYVE26 | p.L1914F | Missense | SNP | 0.635 | 2 | - | ND |
ZGRF1 | - | - | - | - | 1 | Loss | ND |
ZIM3 | p.G397E | Missense | SNP | 0.244 | 2 | - | ND |
ZKSCAN1 | - | - | - | - | 3 | Gain | ND |
ZKSCAN5 | - | - | - | - | 3 | Gain | ND |
ZMAT2 | p.M133V | Missense | SNP | 0.688 | 2 | - | ND |
ZMAT5 | - | - | - | - | 3 | Gain | ND |
ZMIZ1 | p.S145L | Missense | SNP | 0.718 | 2 | - | ND |
ZMIZ2 | - | - | - | - | 3 | Gain | ND |
ZMYM1 | - | - | - | - | 3 | Gain | ND |
ZMYM4 | - | - | - | - | 3 | Gain | ND |
ZMYM6 | - | - | - | - | 3 | Gain | ND |
ZMYND11 | - | - | - | - | 1 | Loss | ND |
ZNF10 | p.S251L | Missense | SNP | 0.596 | 2 | - | ND |
ZNF107 | - | - | - | - | 3 | Gain | ND |
ZNF112 | p.E585K p.C583R | Missense Missense | SNP SNP | 0.214 0.254 | 2 | - | ND |
ZNF117 | - | - | - | - | 3 | Gain | ND |
ZNF12 | - | - | - | - | 3 | Gain | ND |
ZNF124 | - | - | - | - | 3 | Gain | ND |
ZNF131 | - | - | - | - | 3 | Gain | ND |
ZNF138 | - | - | - | - | 3 | Gain | ND |
ZNF14 | p.R542C | Missense | SNP | 0.223 | 2 | - | ND |
ZNF146 | p.H234Y | Missense | SNP | 0.257 | 2 | - | ND |
ZNF182 | p.R282Q | Missense | SNP | 1.000 | ND | ND | ND |
ZNF19 | - | - | - | - | 1 | Loss | ND |
ZNF202 | p.P456L | Missense | SNP | 0.264 | 2 | - | ND |
ZNF212 | - | - | - | - | 3 | Gain | ND |
ZNF22 | - | - | - | - | 1 | Loss | ND |
ZNF227 | p.S136F | Missense | SNP | 0.554 | 2 | - | ND |
ZNF23 | - | - | - | - | 1 | Loss | ND |
ZNF233 | p.H308Y | Missense | SNP | 0.187 | 2 | - | ND |
ZNF236 | p.D1566E | Missense | SNP | 0.667 | 2 | - | ND |
ZNF239 | - | - | - | - | 1 | Loss | ND |
ZNF248 | - | - | - | - | 1 | Loss | ND |
ZNF25 | - | - | - | - | 1 | Loss | ND |
ZNF273 | - | - | - | - | 3 | Gain | ND |
ZNF276 | - | - | - | - | 1 | Loss | ND |
ZNF277 | - | - | - | - | 3 | Gain | ND |
ZNF280A | - | - | - | - | 3 | Gain | ND |
ZNF280B | - | - | - | - | 3 | Gain | ND |
ZNF280D | - | - | - | - | 3 | Gain | ND |
ZNF281 | - | - | - | - | 3 | Gain | ND |
ZNF282 | - | - | - | - | 3 | Gain | ND |
ZNF285 | p.S337F | Missense | SNP | 0.222 | 2 | - | ND |
ZNF286B | p.A475V | Missense | DNP | 0.495 | 2 | - | ND |
ZNF3 | - | - | - | - | 3 | Gain | ND |
ZNF316 | - | - | - | - | 3 | Gain | ND |
ZNF319 | - | - | - | - | 1 | Loss | ND |
ZNF32 | - | - | - | - | 1 | Loss | ND |
ZNF330 | - | - | - | - | 3 | Gain | ND |
ZNF33A | - | - | - | - | 1 | Loss | ND |
ZNF33B | - | - | - | - | 1 | Loss | ND |
ZNF354A | p.P493S | Missense | SNP | 0.618 | 2 | - | ND |
ZNF354B | p.S228F | Missense | SNP | 0.280 | 2 | - | ND |
ZNF362 | - | - | - | - | 3 | Gain | ND |
ZNF37A | - | - | - | - | 1 | Loss | ND |
ZNF394 | - | - | - | - | 3 | Gain | ND |
ZNF398 | - | - | - | - | 3 | Gain | ND |
ZNF419 | p.K448N | Missense | SNP | 0.500 | 2 | - | ND |
ZNF420 | p.E388K | Missense | SNP | 0.283 | 2 | - | ND |
ZNF423 | - | - | - | - | 1 | Loss | ND |
ZNF425 | - | - | - | - | 3 | Gain | ND |
ZNF436 | - | - | - | - | 3 | Gain | ND |
ZNF438 | - | - | - | - | 1 | Loss | ND |
ZNF467 | - | - | - | - | 3 | Gain | ND |
ZNF469 | - | - | - | - | 1 | Loss | ND |
ZNF479 | - | - | - | - | 3 | Gain | ND |
ZNF485 | - | - | - | - | 1 | Loss | ND |
ZNF486 | p.E113K | Missense | SNP | 0.242 | 2 | - | ND |
ZNF487 | - | - | - | - | 1 | Loss | ND |
ZNF488 | - | - | - | - | 1 | Loss | ND |
ZNF492 | p.Q64* | Nonsense | SNP | 0.266 | 2 | - | ND |
ZNF496 | - | - | - | - | 3 | Gain | ND |
ZNF511 | - | - | - | - | 1 | Loss | ND |
ZNF511-PRAP1 | - | - | - | - | 1 | Loss | ND |
ZNF529 | p.P15L | Missense | SNP | 0.274 | 2 | - | ND |
ZNF534 | p.D35N p.S156F p.H329Y | Missense Missense Missense | SNP SNP SNP | 0.233 0.265 0.225 | 2 | - | ND |
ZNF544 | p.S683C | Missense | SNP | 0.500 | 2 | - | ND |
ZNF560 | p.G690E p.W178* | Missense Nonsense | SNP SNP | 0.278 0.152 | 2 | - | ND |
ZNF564 | p.L71F | Missense | SNP | 0.234 | 2 | - | ND |
ZNF573 | p.E271K | Missense | SNP | 0.211 | 2 | - | ND |
ZNF578 | p.W38* | Nonsense | SNP | 0.197 | 2 | - | ND |
ZNF583 | p.E381K | Missense | SNP | 0.219 | 2 | - | ND |
ZNF585A | p.Q737* | Nonsense | SNP | 0.541 | 2 | - | ND |
ZNF592 | - | - | - | - | 3 | Gain | ND |
ZNF593 | - | - | - | - | 3 | Gain | ND |
ZNF606 | p.G536R p.G480R p.P6L | Missense Missense Missense | SNP SNP SNP | 0.261 0.467 0.304 | 2 | - | ND |
ZNF607 | p.E71K | Missense | SNP | 0.476 | 2 | - | ND |
ZNF609 | p.A867V | Missense | SNP | 0.296 | 3 | Gain | ND |
ZNF611 | p.H500Y | Missense | SNP | 0.167 | 2 | - | ND |
ZNF638 | p.S310F | Missense | SNP | 0.476 | 2 | - | ND |
ZNF648 | - | - | - | - | 3 | Gain | ND |
ZNF652 | p.P497L | Missense | SNP | 0.326 | 2 | - | ND |
ZNF655 | - | - | - | - | 3 | Gain | ND |
ZNF667 | p.H437Y p.R341K | Missense Missense | SNP SNP | 0.295 0.306 | 2 | - | ND |
ZNF669 | - | - | - | - | 3 | Gain | ND |
ZNF670 | - | - | - | - | 3 | Gain | ND |
ZNF670-ZNF695 | - | - | - | - | 3 | Gain | ND |
ZNF672 | - | - | - | - | 3 | Gain | ND |
ZNF676 | p.E90K | Missense | SNP | 0.529 | 2 | - | ND |
ZNF678 | - | - | - | - | 3 | Gain | ND |
ZNF679 | p.H346Y | Missense | SNP | 0.309 | 3 | Gain | ND |
ZNF680 | - | - | - | - | 3 | Gain | ND |
ZNF682 | p.H419Y | Missense | SNP | 0.493 | 2 | - | ND |
ZNF683 | - | - | - | - | 3 | Gain | ND |
ZNF69 | p.H176Y | Missense | SNP | 0.491 | 2 | - | ND |
ZNF692 | - | - | - | - | 3 | Gain | ND |
ZNF695 | - | - | - | - | 3 | Gain | ND |
ZNF70 | - | - | - | - | 3 | Gain | ND |
ZNF708 | p.H302Y | Missense | SNP | 0.233 | 2 | - | ND |
ZNF710 | - | - | - | - | 3 | Gain | ND |
ZNF713 | - | - | - | - | 3 | Gain | ND |
ZNF716 | - | - | - | - | 3 | Gain | ND |
ZNF727 | p.K165I | Missense | SNP | 0.335 | 3 | Gain | ND |
ZNF728 | p.K128* | Nonsense | SNP | 0.517 | 2 | - | ND |
ZNF735 | p.A177T | Missense | SNP | 0.339 | 3 | Gain | ND |
ZNF736 | - | - | - | - | 3 | Gain | ND |
ZNF74 | - | - | - | - | 3 | Gain | ND |
ZNF746 | - | - | - | - | 3 | Gain | ND |
ZNF77 | p.P163S | Missense | SNP | 0.262 | 2 | - | ND |
ZNF774 | - | - | - | - | 3 | Gain | ND |
ZNF775 | - | - | - | - | 3 | Gain | ND |
ZNF777 | - | - | - | - | 3 | Gain | ND |
ZNF778 | - | - | - | - | 1 | Loss | ND |
ZNF783 | - | - | - | - | 3 | Gain | ND |
ZNF786 | - | - | - | - | 3 | Gain | ND |
ZNF789 | - | - | - | - | 3 | Gain | ND |
ZNF800 | - | - | - | - | 3 | Gain | ND |
ZNF804A | p.D333N | Missense | SNP | 0.421 | 2 | - | ND |
ZNF804B | - | - | - | - | 3 | Gain | ND |
ZNF812P | p.S263F | Missense | SNP | 0.261 | ND | ND | ND |
ZNF816 | p.H307Y | Missense | SNP | 0.205 | 2 | - | ND |
ZNF821 | - | - | - | - | 1 | Loss | ND |
ZNF827 | - | - | - | - | 3 | Gain | ND |
ZNF831 | p.E878K | Missense | SNP | 0.263 | 2 | - | ND |
ZNF84 | p.S665F | Missense | SNP | 0.214 | 2 | - | ND |
ZNF843 | p.W73* | Nonsense | SNP | 0.299 | 2 | - | ND |
ZNF845 | p.H657Y | Missense | SNP | 0.459 | 2 | - | ND |
ZNF853 | - | - | - | - | 3 | Gain | ND |
ZNF862 | - | - | - | - | 3 | Gain | ND |
ZNF91 | p.E991K p.S169L | Missense Missense | SNP SNP | 0.475 0.330 | 2 | - | ND |
ZNF92 | - | - | - | - | 3 | Gain | ND |
ZNF93 | p.P256L | Missense | SNP | 0.223 | 2 | - | ND |
ZNF99 | p.E484K | Missense | SNP | 0.469 | 2 | - | ND |
ZNHIT1 | - | - | - | - | 3 | Gain | ND |
ZNRF1 | - | - | - | - | 1 | Loss | ND |
ZNRF2 | - | - | - | - | 3 | Gain | ND |
ZNRF3 | - | - | - | - | 3 | Gain | ND |
ZNRF4 | p.ME134IK | Missense | DNP | 0.294 | 2 | - | ND |
ZP3 | - | - | - | - | 3 | Gain | ND |
ZP4 | - | - | - | - | 3 | Gain | ND |
ZPBP | - | - | - | - | 3 | Gain | ND |
ZSCAN10 | p.R560C | Missense | SNP | 0.601 | 2 | - | ND |
ZSCAN18 | p.S309F | Missense | SNP | 0.222 | 2 | - | ND |
ZSCAN2 | - | - | - | - | 3 | Gain | ND |
ZSCAN20 | - | - | - | - | 3 | Gain | ND |
ZSCAN21 | - | - | - | - | 3 | Gain | ND |
ZSCAN25 | - | - | - | - | 3 | Gain | ND |
ZSCAN31 | p.E144K | Missense | SNP | 0.669 | 2 | - | ND |
ZWILCH | - | - | - | - | 3 | Gain | ND |
ZWINT | - | - | - | - | 1 | Loss | ND |
ZYG11A | p.E31K | Missense | SNP | 0.264 | 2 | - | ND |
ZZEF1 | p.P2771S | Missense | SNP | 0.636 | 2 | - | ND |