| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 22-26864537-G-A | HPS4 | c.649C>T | p.R217* | Nonsense | 8/14 | - |
| 6-35479569-T-C | TULP1 | c.205A>G | p.R69G | Missense | 4/15 | - |
| 2-198265455-T-C | SF3B1 | c.2702A>G | p.Q901R | Missense | 18/25 | - |
| 7-127014225-T-C | ZNF800 | c.1165A>G | p.T389A | Missense | 5/6 | - |
| 15-59192022-A-C | SLTM | c.704T>G | p.V235G | Missense | 7/21 | - |
| 10-90574938-G-T | LIPM | c.668G>T | p.S223I | Missense | 5/9 | - |
| 13-114009781-C-T | GRTP1 | c.197G>A | p.R66Q | Missense | 3/8 | - |
| 4-55598105-G-A | KIT | c.2302G>A | p.D768N | Missense | 16/21 | - |
| 16-58075602-C-T | MMP15 | c.992C>T | p.P331L | Missense | 6/10 | - |
| 2-47637236-T-C | MSH2 | c.370T>C | p.S124P | Missense | 3/16 | - |
| 20-52193553-G-A | ZNF217 | c.1750C>T | p.Q584* | Nonsense | 4/6 | - |
| 12-49424392-G-A | KMT2D | c.13831C>T | p.L4611F | Missense | 42/55 | - |
| 7-151945399-A-G | KMT2C | c.2120T>C | p.I707T | Missense | 14/59 | - |
| 7-151851141-G-C | KMT2C | c.12230C>G | p.S4077* | Nonsense | 48/59 | - |
| 7-143028408-G-C | CLCN1 | c.1063G>C | p.G355R | Missense | 9/23 | - |
| 9-139407560-C-T | NOTCH1 | c.2380G>A | p.E794K | Missense | 15/34 | - |
| 9-139410000-C-T | NOTCH1 | c.1838G>A | p.R613H | Missense | 11/34 | - |
| 12-52685188-C-T | KRT81 | c.62G>A | p.R21Q | Missense | 1/9 | - |
| 16-2125845-A-G | TSC2 | c.2591A>G | p.Q864R | Missense | 23/42 | - |
| 16-3779329-C-T | CREBBP | c.5719G>A | p.A1907T | Missense | 31/31 | - |
| X-70349942-G-A | MED12 | c.3925G>A | p.D1309N | Missense | 28/45 | - |
| 7-151878445-C-T | KMT2C | c.6500G>A | p.R2167Q | Missense | 36/59 | - |
| 2-16082568-C-G | MYCN | c.382C>G | p.R128G | Missense | 2/3 | - |
| 12-6697090-C-T | CHD4 | c.3491G>A | p.G1164E | Missense | 24/40 | - |
| 19-15271525-G-A | NOTCH3 | c.6914C>T | p.T2305I | Missense | 33/33 | - |
| 10-98762690-C-T | SLIT1 | c.3925G>A | p.G1309S | Missense | 35/37 | - |
| 5-140182209-C-T | PCDHA3 | c.1427C>T | p.T476M | Missense | 1/4 | - |
| 2-132021903-G-A | POTEE | c.2875G>A | p.E959K | Missense | 18/18 | - |
| 6-41904302-C-T | CCND3 | c.706G>A | p.E236K | Missense | 4/5 | - |
| 11-78380300-C-G | TENM4 | c.7090G>C | p.G2364R | Missense | 32/34 | - |
| 3-185993435-G-A | DGKG | c.811C>T | p.R271W | Missense | 10/25 | - |
| 19-23159624-A-C | ZNF728 | c.515T>G | p.L172R | Missense | 4/4 | - |
| 7-129912925-G-T | CPA2 | c.394G>T | p.E132* | Nonsense | 5/11 | - |
| 5-140209015-G-A | PCDHA6 | c.1339G>A | p.D447N | Missense | 1/4 | - |
| 9-115651934-C-T | SLC46A2 | c.1028G>A | p.R343H | Missense | 1/4 | - |
| 20-33440318-C-T | GGT7 | c.1343G>A | p.R448Q | Missense | 11/15 | - |
| 19-54647480-G-T | CNOT3 | c.253G>T | p.E85* | Nonsense | 5/18 | - |
| 15-22743150-G-A | GOLGA6L1 | c.1535G>A | p.R512Q | Missense | 8/9 | - |
| 7-150878421-G-A | ASB10 | c.709C>T | p.R237W | Missense | 3/6 | - |
| 11-3849187-T-A | RHOG | c.182A>T | p.Q61L | Missense | 2/2 | - |
| 6-161560589-G-A | AGPAT4 | c.907C>T | p.R303W | Missense | 8/9 | - |
| 6-79735296-G-A | PHIP | c.863C>T | p.S288F | Missense | 9/40 | - |
| 11-58034968-C-A | OR10W1 | c.363G>T | p.L121F | Missense | 1/1 | - |
| X-133547934-G-T | PHF6 | c.667G>T | p.E223* | Nonsense | 7/11 | - |
| 17-30303600-T-C | SUZ12 | c.884T>C | p.F295S | Missense | 8/16 | - |
| 6-4892484-G-A | CDYL | c.562G>A | p.G188R | Missense | 2/7 | - |
| 9-139399332-A-T | NOTCH1 | c.4811T>A | p.V1604E | Missense | 26/34 | - |
| 12-91347861-G-A | CCER1 | c.659C>T | p.T220M | Missense | 1/1 | - |
| 6-135509033-A-T | MYB | c.203A>T | p.N68I | Missense | 3/16 | - |
| 13-33261294-G-C | PDS5B | c.1227G>C | p.M409I | Missense | 12/35 | - |
| 13-33261294-G-A | PDS5B | c.1227G>A | p.M409I | Missense | 12/35 | - |
| 13-33261294-G-T | PDS5B | c.1227G>T | p.M409I | Missense | 12/35 | - |
| 5-141052405-C-T | ARAP3 | c.1181G>A | p.R394Q | Missense | 8/33 | - |
| 11-6129534-T-C | OR56B4 | c.526T>C | p.S176P | Missense | 1/1 | - |
| 6-135518234-C-A | MYB | c.1339C>A | p.P447T | Missense | 10/16 | - |
| 2-174820034-C-G | SP3 | c.1206G>C | p.E402D | Missense | 4/7 | - |
| 15-42042029-A-C | MGA | c.6224A>C | p.K2075T | Missense | 17/24 | - |
| 6-70065747-G-A | ADGRB3 | c.3590G>A | p.R1197Q | Missense | 28/32 | - |
| 1-186277166-A-G | PRG4 | c.2315A>G | p.E772G | Missense | 7/13 | - |
| 15-42042145-G-A | MGA | c.6340G>A | p.V2114M | Missense | 17/24 | - |
| 6-158902262-G-A | TULP4 | c.1427G>A | p.R476H | Missense | 8/14 | - |
| 5-60194177-C-T | ERCC8 | c.769G>A | p.G257R | Missense | 9/12 | - |
| X-133551267-C-G | PHF6 | c.903C>G | p.Y301* | Nonsense | 9/11 | - |
| 21-36252994-T-A | RUNX1 | c.368A>T | p.D123V | Missense | 5/9 | - |
| 1-11106735-G-A | MASP2 | c.290C>T | p.T97M | Missense | 3/11 | - |
| 13-27333357-G-A | GPR12 | c.608C>T | p.S203L | Missense | 2/2 | - |
| 9-139399416-A-T | NOTCH1 | c.4727T>A | p.V1576E | Missense | 26/34 | - |
| 7-4821291-G-A | AP5Z1 | c.272G>A | p.R91Q | Missense | 3/17 | - |
| 10-8106045-C-T | GATA3 | c.868C>T | p.L290F | Missense | 4/6 | - |
| 19-45992164-G-A | RTN2 | c.1322C>T | p.S441L | Missense | 7/11 | - |
| 16-67644970-G-T | CTCF | c.235G>T | p.E79* | Nonsense | 3/12 | - |
| 12-49434423-G-A | KMT2D | c.7130C>T | p.P2377L | Missense | 32/55 | - |
| 2-171572943-G-A | SP5 | c.226G>A | p.D76N | Missense | 2/2 | - |
| 1-200569566-G-A | KIF14 | c.2218C>T | p.R740* | Nonsense | 12/30 | - |
| 1-116380600-C-T | NHLH2 | c.394G>A | p.V132I | Missense | 3/3 | - |
| 11-17793575-G-A | KCNC1 | c.934G>A | p.V312I | Missense | 2/4 | - |
| 3-50326277-C-T | IFRD2 | c.1169G>A | p.R326H | Missense | 9/12 | - |
| 7-151851141-G-T | KMT2C | c.12230C>A | p.S4077* | Nonsense | 48/59 | - |
| 11-3239241-C-T | MRGPRG | c.803G>A | p.R268Q | Missense | 1/1 | - |
| 14-89069271-C-A | ZC3H14 | c.1614C>A | p.D538E | Missense | 12/17 | - |
| 1-151238792-G-A | PSMD4 | c.772G>A | p.D258N | Missense | 8/10 | - |
| 7-100730882-G-C | TRIM56 | c.289G>C | p.G97R | Missense | 3/3 | - |
| 14-99641779-G-A | BCL11B | c.1394C>T | p.S465L | Missense | 4/4 | - |
| 14-99641759-G-A | BCL11B | c.1414C>T | p.R472C | Missense | 4/4 | - |
| 11-71149977-C-T | DHCR7 | c.779G>A | p.R260Q | Missense | 7/9 | - |
| 6-107824976-G-A | SOBP | c.212G>A | p.R71Q | Missense | 2/7 | - |
| 11-108196191-C-A | ATM | c.6727C>A | p.Q2243K | Missense | 46/63 | - |
| 8-49832978-A-T | SNAI2 | c.102T>A | p.Y34* | Nonsense | 2/3 | - |
| 16-67654655-G-T | CTCF | c.1142G>T | p.C381F | Missense | 6/12 | - |
| 8-49832978-A-C | SNAI2 | c.102T>G | p.Y34* | Nonsense | 2/3 | - |
| 16-8993589-C-A | USP7 | c.2335G>T | p.E779* | Nonsense | 22/31 | - |
| 16-9012969-G-T | USP7 | c.639C>A | p.Y213* | Nonsense | 6/31 | - |
| 22-50906107-C-G | SBF1 | c.292G>C | p.V98L | Missense | 4/41 | - |
| 16-9012969-G-C | USP7 | c.639C>G | p.Y213* | Nonsense | 6/31 | - |
| 17-19866326-G-T | AKAP10 | c.146C>A | p.S49Y | Missense | 3/15 | - |
| X-53115012-G-T | TSPYL2 | c.1438G>T | p.E480* | Nonsense | 6/7 | - |
| 18-67795675-A-G | RTTN | c.3062T>C | p.L1021P | Missense | 24/49 | - |
| 3-47164026-A-C | SETD2 | c.2100T>G | p.D700E | Missense | 3/21 | - |
| 11-66084394-G-T | CD248 | c.105C>A | p.Y35* | Nonsense | 1/1 | - |
| 4-961734-C-T | DGKQ | c.745G>A | p.V249M | Missense | 6/23 | - |
| 11-66084394-G-C | CD248 | c.105C>G | p.Y35* | Nonsense | 1/1 | - |
| 5-34925040-C-T | BRIX1 | c.752C>T | p.P251L | Missense | 9/10 | - |
| 1-147095715-C-G | BCL9 | c.3236C>G | p.P1079R | Missense | 10/10 | - |
| 6-56044499-C-A | COL21A1 | c.517G>T | p.E173* | Nonsense | 3/30 | - |
| 22-23656888-A-G | BCR | c.3713A>G | p.E1238G | Missense | 22/23 | - |
| 2-70188265-T-C | ASPRV1 | c.556A>G | p.I102V | Missense | 1/1 | - |
| 11-108199851-A-T | ATM | c.7193A>T | p.Y2398F | Missense | 49/63 | - |
| 8-98155356-G-A | CPQ | c.1364G>A | p.W455* | Nonsense | 8/8 | - |
| 8-98155357-G-A | CPQ | c.1365G>A | p.W455* | Nonsense | 8/8 | - |
| 1-17273363-G-T | CROCC | c.2391G>T | p.Q797H | Missense | 17/37 | - |
| 1-17273363-G-C | CROCC | c.2391G>C | p.Q797H | Missense | 17/37 | - |
| 6-135517070-A-T | MYB | c.1133A>T | p.H378L | Missense | 9/16 | - |
| 15-42005510-T-A | MGA | c.3246T>A | p.C1082* | Nonsense | 9/24 | - |
| 9-103109470-T-A | TEX10 | c.399A>T | p.Q133H | Missense | 3/15 | - |
| 14-45609896-C-G | FANCM | c.743C>G | p.P248R | Missense | 3/23 | - |
| 5-150923903-A-T | FAT2 | c.6785T>A | p.V2262E | Missense | 10/24 | - |
| 3-50369088-C-A | RASSF1 | c.662G>T | p.R221M | Missense | 4/6 | - |
| 1-22202829-C-T | HSPG2 | c.2896G>A | p.E966K | Missense | 23/97 | - |
| 7-5541105-G-T | FBXL18 | c.795C>A | p.F265L | Missense | 3/5 | - |
| 11-17743047-G-C | MYOD1 | c.955G>C | p.V319L | Missense | 3/3 | - |
| 11-17743047-G-T | MYOD1 | c.955G>T | p.V319L | Missense | 3/3 | - |
| 19-50862845-G-A | NAPSA | c.851C>T | p.T284M | Missense | 7/9 | - |
| 5-50689392-C-T | ISL1 | c.998C>T | p.S333F | Missense | 6/6 | - |
| 2-60689262-G-C | BCL11A | c.785C>G | p.T262S | Missense | 4/4 | - |
| 5-53751977-C-A | HSPB3 | c.358C>A | p.L120I | Missense | 1/1 | - |
| 7-5541107-A-G | FBXL18 | c.793T>C | p.F265L | Missense | 3/5 | - |
| 7-5541105-G-C | FBXL18 | c.795C>G | p.F265L | Missense | 3/5 | - |
| 14-24901426-G-T | KHNYN | c.959G>T | p.C320F | Missense | 3/8 | - |
| 9-110249378-C-A | KLF4 | c.1195G>T | p.D399Y | Missense | 4/5 | - |
| 11-66999051-G-T | KDM2A | c.1099G>T | p.G367W | Missense | 12/21 | - |
| 22-26298599-C-T | MYO18B | c.4843C>T | p.Q1615* | Nonsense | 30/44 | - |
| 2-79312362-C-G | REG1B | c.481G>C | p.V161L | Missense | 6/6 | - |
| 4-120422404-A-G | PDE5A | c.2411T>C | p.L804P | Missense | 20/21 | - |
| 20-42089528-G-T | SRSF6 | c.860G>T | p.G287V | Missense | 6/6 | - |
| X-102968831-T-A | TMEM31 | c.412T>A | p.F138I | Missense | 3/3 | - |
| 22-32555003-G-A | C22orf42 | c.200C>T | p.P67L | Missense | 1/9 | - |
| 20-61300363-G-A | SLCO4A1 | c.1958G>A | p.G653D | Missense | 11/12 | - |
| X-70352382-A-G | MED12 | c.4409A>G | p.Q1470R | Missense | 31/45 | - |
| 9-139412643-G-C | NOTCH1 | c.1201C>G | p.P401A | Missense | 7/34 | - |
| 9-139399244-CACG-C | NOTCH1 | c.4897_4899delCGT | p.R1633del | InFrameDeletion | 26/34 | - |
| 12-49446741-T-C | KMT2D | c.1069A>G | p.T357A | Missense | 9/55 | - |
| 12-49432177-A-T | KMT2D | c.8962T>A | p.C2988S | Missense | 35/55 | - |
| 12-49432176-C-G | KMT2D | c.8963G>C | p.C2988S | Missense | 35/55 | - |
| 12-49431370-T-C | KMT2D | c.9769A>G | p.K3257E | Missense | 35/55 | - |
| X-70339238-TTG-AGGGCAAGC | MED12 | c.115_117delinsAGGGCAAGC | p.L39delinsRAS | MultiAAMissense | 2/45 | - |
| X-70338669-C-A | MED12 | c.65C>A | p.P22H | Missense | 1/45 | - |
| 16-67645413-C-A | CTCF | c.678C>A | p.Y226* | Nonsense | 3/12 | - |
| 16-67645413-C-G | CTCF | c.678C>G | p.Y226* | Nonsense | 3/12 | - |
| X-133547629-C-A | PHF6 | c.527C>A | p.S176* | Nonsense | 6/11 | - |
| X-133547629-C-G | PHF6 | c.527C>G | p.S176* | Nonsense | 6/11 | - |
| 16-67662273-G-T | CTCF | c.1519G>T | p.E507* | Nonsense | 9/12 | - |
| 16-8990905-C-A | USP7 | c.2770G>T | p.E924* | Nonsense | 26/31 | - |
| X-70349538-G-T | MED12 | c.3700G>T | p.E1234* | Nonsense | 27/45 | - |
| 16-67655371-T-C | CTCF | c.1234T>C | p.C412R | Missense | 7/12 | - |
| X-70339656-T-G | MED12 | c.325T>G | p.S109A | Missense | 3/45 | - |
| 7-150840657-G-A | AGAP3 | c.2503G>A | p.V835I | Missense | 17/18 | - |
| 18-42530995-A-G | SETBP1 | c.1690A>G | p.I564V | Missense | 4/6 | - |
| 18-67715245-G-A | RTTN | c.5503C>T | p.Q1835* | Nonsense | 40/49 | - |
| X-63411961-T-G | AMER1 | c.1206A>C | p.E402D | Missense | 2/2 | - |
| X-63411961-T-A | AMER1 | c.1206A>T | p.E402D | Missense | 2/2 | - |
| 2-39187418-C-T | ARHGEF33 | c.1972C>T | p.R658W | Missense | 16/18 | - |
| 16-72992801-A-G | ZFHX3 | c.1244T>C | p.I415T | Missense | 2/10 | - |
| 1-198723466-A-C | PTPRC | c.3578A>C | p.E1193A | Missense | 32/33 | - |
| 18-67809620-C-G | RTTN | c.2485G>C | p.E829Q | Missense | 19/49 | - |
| 2-43452689-C-T | ZFP36L2 | c.254G>A | p.S85N | Missense | 2/2 | - |
| 2-43452779-C-T | ZFP36L2 | c.164G>A | p.R55Q | Missense | 2/2 | - |
| 9-8376638-G-A | PTPRD | c.4475C>T | p.T1492I | Missense | 38/46 | - |
| 18-74091912-C-A | ZNF516 | c.2158G>T | p.G720W | Missense | 4/8 | - |
| 6-86346713-T-C | SYNCRIP | c.638A>G | p.K213R | Missense | 6/11 | - |
| 7-91712539-A-C | AKAP9 | c.8216A>C | p.H2739P | Missense | 33/50 | - |
| 18-74091996-C-T | ZNF516 | c.2074G>A | p.E692K | Missense | 4/8 | - |
| 2-215843695-G-A | ABCA12 | c.4810C>T | p.P1604S | Missense | 32/53 | - |
| X-53115403-T-C | TSPYL2 | c.1829T>C | p.I610T | Missense | 6/7 | - |
| 4-74008425-C-T | ANKRD17 | c.2017G>A | p.A673T | Missense | 12/34 | - |
| 8-41469466-G-A | GPAT4 | c.656G>A | p.R219Q | Missense | 6/13 | - |
| 12-81471985-G-A | ACSS3 | c.86G>A | p.G29E | Missense | 1/16 | - |
| 4-73956921-T-C | ANKRD17 | c.6424A>G | p.T2142A | Missense | 29/34 | - |
| 8-103292627-T-C | UBR5 | c.5996A>G | p.N1999S | Missense | 42/59 | - |
| 8-103305929-G-A | UBR5 | c.4493C>T | p.T1498I | Missense | 34/59 | - |
| 11-113270139-G-T | ANKK1 | c.1448G>T | p.R483L | Missense | 8/8 | - |
| 2-234621858-T-C | UGT1A5 | c.221T>C | p.F74S | Missense | 1/5 | - |
| 6-32138231-C-T | AGPAT1 | c.481G>A | p.E161K | Missense | 4/7 | - |
| 17-30323838-G-T | SUZ12 | c.1816G>T | p.V606F | Missense | 15/16 | - |
| 1-65313300-T-C | JAK1 | c.1814A>G | p.Y605C | Missense | 13/25 | - |
| 1-65307007-GA-AT | JAK1 | c.2569_2570delTCinsAT | p.S857I | Missense | 19/25 | - |
| 17-30293199-TTTC-T | SUZ12 | c.493_495delTTC | p.F165del | InFrameDeletion | 5/16 | - |
| 17-30323871-T-A | SUZ12 | c.1849T>A | p.W617R | Missense | 15/16 | - |
| 17-30323871-T-C | SUZ12 | c.1849T>C | p.W617R | Missense | 15/16 | - |
| 17-30302582-G-A | SUZ12 | c.673G>A | p.G225R | Missense | 7/16 | - |
| 17-30302582-G-C | SUZ12 | c.673G>C | p.G225R | Missense | 7/16 | - |
| 20-31023199-C-T | ASXL1 | c.2684C>T | p.S895F | Missense | 13/13 | - |
| 17-30323873-G-T | SUZ12 | c.1851G>T | p.W617C | Missense | 15/16 | - |
| 17-30323873-G-C | SUZ12 | c.1851G>C | p.W617C | Missense | 15/16 | - |
| 7-152132841-G-A | KMT2C | c.31C>T | p.Q11* | Nonsense | 1/59 | - |
| 19-17948744-CCAT-C | JAK3 | c.1696_1698delATG | p.M566del | InFrameDeletion | 12/24 | - |
| 3-47165148-ATCT-A | SETD2 | c.975_977delAGA | p.E325del | InFrameDeletion | 3/21 | - |
| 7-151878593-G-A | KMT2C | c.6352C>T | p.Q2118* | Nonsense | 36/59 | - |
| 13-60545110-G-A | DIAPH3 | c.1835C>T | p.P612L | Missense | 16/28 | - |
| 17-37682173-C-G | CDK12 | c.3364C>G | p.L1122V | Missense | 13/14 | - |
| X-69719741-C-T | DLG3 | c.1987C>T | p.R663* | Nonsense | 16/19 | - |
| 13-103402419-C-T | CCDC168 | c.628G>A | p.G210R | Missense | 4/4 | - |
| 13-103402419-C-G | CCDC168 | c.628G>C | p.G210R | Missense | 4/4 | - |
| 6-4892484-G-C | CDYL | c.562G>C | p.G188R | Missense | 2/7 | - |
| 20-48807935-TCTC-T | CEBPB | c.367_369delTCC | p.S123del | InFrameDeletion | 1/1 | - |
| 2-27324253-TGGC-T | CGREF1 | c.844_846delGCC | p.A282del | InFrameDeletion | 6/6 | - |
| 20-61981685-G-A | CHRNA4 | c.1078C>T | p.R360W | Missense | 5/6 | - |
| 4-40339317-G-T | CHRNA9 | c.301G>T | p.G101C | Missense | 3/5 | - |
| 2-74043494-A-T | C2orf78 | c.2144A>T | p.K715M | Missense | 3/3 | - |
| 19-12858799-T-C | GET3 | c.928T>C | p.Y310H | Missense | 7/7 | - |
| 8-8560137-G-A | CLDN23 | c.229G>A | p.V77M | Missense | 1/1 | - |
| 8-62212595-G-A | CLVS1 | c.209G>A | p.R70H | Missense | 2/6 | - |
| 13-40261687-G-A | COG6 | c.836G>A | p.R279H | Missense | 9/19 | - |
| 17-59821806-G-T | BRIP1 | c.2244C>A | p.Y748* | Nonsense | 15/20 | - |
| 1-115280663-C-T | CSDE1 | c.230G>A | p.R77Q | Missense | 4/20 | - |
| 8-3000052-T-A | CSMD1 | c.6176A>T | p.E2059V | Missense | 41/70 | - |
| 1-91182289-G-A | BARHL2 | c.464C>T | p.A155V | Missense | 1/3 | - |
| 15-75968876-C-T | CSPG4 | c.5984G>A | p.R1995Q | Missense | 10/10 | - |
| 11-108173601-G-C | ATM | c.5341G>C | p.D1781H | Missense | 36/63 | - |
| 11-108164086-A-G | ATM | c.4658A>G | p.E1553G | Missense | 31/63 | - |
| 2-25966298-T-C | ASXL2 | c.2908A>G | p.K970E | Missense | 13/13 | - |
| 11-108151776-G-A | ATM | c.3457G>A | p.V1153I | Missense | 24/63 | - |
| 6-135517048-CCAG-C | MYB | c.1114_1116delGCA | p.A372del | InFrameDeletion | 9/16 | - |
| 15-42046642-G-A | MGA | c.7016G>A | p.C2339Y | Missense | 18/24 | - |
| 15-42041323-A-G | MGA | c.5518A>G | p.I1840V | Missense | 17/24 | - |
| 2-25966315-A-G | ASXL2 | c.2891T>C | p.M964T | Missense | 13/13 | - |
| 16-3929881-T-C | CREBBP | c.37A>G | p.K13E | Missense | 1/31 | - |
| 2-25966366-G-A | ASXL2 | c.2840C>T | p.P947L | Missense | 13/13 | - |
| 5-35874577-ATC-GGTCTTGCATGTAGGGACCTT | IL7R | c.733_735delinsGGTCTTGCATGTAGGGACCTT | p.I245delinsGLACRDL | MultiAAMissense | 6/8 | - |
| 11-108196818-T-C | ATM | c.6841T>C | p.Y2281H | Missense | 47/63 | - |
| 5-35874575-CC-GCATGCCT | IL7R | c.730_732delinsAGCATGCCT | p.T244delinsSMP | MultiAAMissense | 6/8 | - |
| 11-108155132-G-C | ATM | c.3925G>C | p.A1309P | Missense | 26/63 | - |
| 16-3779221-G-A | CREBBP | c.5827C>T | p.P1943S | Missense | 31/31 | - |
| 5-35874610-TTG-GAGCATCTTGTA | IL7R | c.766_768delinsGAGCATCTTGTA | p.L256delinsEHLV | MultiAAMissense | 6/8 | - |
| 9-103109056-T-G | TEX10 | c.813A>C | p.E271D | Missense | 3/15 | - |
| 19-54648024-G-A | CNOT3 | c.439G>A | p.E147K | Missense | 7/18 | - |
| 16-3779105-C-G | CREBBP | c.5943G>C | p.M1981I | Missense | 31/31 | - |
| 16-3779105-C-A | CREBBP | c.5943G>T | p.M1981I | Missense | 31/31 | - |
| 6-135517072-C-A | MYB | c.1135C>A | p.Q379K | Missense | 9/16 | - |
| 14-99641877-G-T | BCL11B | c.1296C>A | p.C432* | Nonsense | 4/4 | - |
| X-133559233-T-G | PHF6 | c.971T>G | p.L324R | Missense | 10/11 | - |
| X-133551217-C-T | PHF6 | c.853C>T | p.Q285* | Nonsense | 9/11 | - |
| 14-99737528-G-A | BCL11B | c.28C>T | p.Q10* | Nonsense | 1/4 | - |
| 14-99641822-C-T | BCL11B | c.1351G>A | p.G451S | Missense | 4/4 | - |
| 14-99641770-C-A | BCL11B | c.1403G>T | p.S468I | Missense | 4/4 | - |
| 9-139413169-T-A | NOTCH1 | c.973A>T | p.N325Y | Missense | 6/34 | - |
| 9-139391095-G-A | NOTCH1 | c.7096C>T | p.Q2366* | Nonsense | 34/34 | - |
| 3-47164026-A-T | SETD2 | c.2100T>A | p.D700E | Missense | 3/21 | - |
| 17-30325844-T-A | SUZ12 | c.2042T>A | p.L681H | Missense | 16/16 | - |
| 10-16911677-G-A | CUBN | c.9412C>T | p.Q3138* | Nonsense | 59/67 | - |
| 5-64079709-C-T | CWC27 | c.299C>T | p.A100V | Missense | 4/14 | - |
| 11-107325249-G-T | CWF19L2 | c.266C>A | p.A89E | Missense | 3/18 | - |
| 17-76698264-T-C | CYTH1 | c.296A>G | p.Q99R | Missense | 5/14 | - |
| 11-66359328-G-A | CCDC87 | c.1159C>T | p.R387C | Missense | 1/1 | - |
| 11-85977140-G-T | EED | c.742G>T | p.G248C | Missense | 8/12 | - |
| 19-40363036-C-T | FCGBP | c.15034G>A | p.G5012R | Missense | 32/36 | - |
| 19-40363036-C-G | FCGBP | c.15034G>C | p.G5012R | Missense | 32/36 | - |
| 2-163133259-C-T | IFIH1 | c.2242G>A | p.G748R | Missense | 11/16 | - |
| 2-163133259-C-G | IFIH1 | c.2242G>C | p.G748R | Missense | 11/16 | - |
| 17-80477910-T-C | FOXK2 | c.146T>C | p.M49T | Missense | 1/9 | - |
| 16-1639731-C-T | IFT140 | c.685G>A | p.A229T | Missense | 7/31 | - |
| 4-162577617-G-C | FSTL5 | c.757C>G | p.Q253E | Missense | 7/16 | - |
| 1-240370962-AGCG-A | FMN2 | c.2853_2855delGGC | p.A952del | InFrameDeletion | 5/18 | - |
| 13-31035521-ATCT-A | HMGB1 | c.618_620delAGA | p.E206del | InFrameDeletion | 5/5 | - |
| 17-11554619-G-T | DNAH9 | c.2331G>T | p.E777D | Missense | 13/69 | - |
| 2-84949818-C-T | DNAH6 | c.9862C>T | p.R3288C | Missense | 60/77 | - |
| 3-51989990-G-A | GPR62 | c.322G>A | p.A108T | Missense | 1/1 | - |
| 17-7907036-C-T | GUCY2D | c.671C>T | p.S224F | Missense | 2/20 | - |
| 15-73660427-G-A | HCN4 | c.185C>T | p.A62V | Missense | 1/8 | - |
| 12-48192627-G-C | HDAC7 | c.199C>G | p.L67V | Missense | 3/26 | - |
| X-34150290-T-C | FAM47A | c.106A>G | p.R36G | Missense | 1/1 | - |
| 5-60194177-C-G | ERCC8 | c.769G>C | p.G257R | Missense | 9/12 | - |
| 20-45633604-G-A | EYA2 | c.179G>A | p.R60H | Missense | 4/16 | - |
| 1-64021179-G-C | EFCAB7 | c.1207G>C | p.E403Q | Missense | 9/14 | - |
| 1-216680312-A-T | ESRRG | c.1346T>A | p.L449H | Missense | 7/7 | - |
| 2-222294838-G-T | EPHA4 | c.2530C>A | p.P844T | Missense | 15/18 | - |
| 12-132498084-G-A | EP400 | c.3661G>A | p.E1221K | Missense | 18/53 | - |
| 18-28714547-C-A | DSC1 | c.1864G>T | p.E622* | Nonsense | 12/16 | - |
| 17-47810061-G-A | FAM117A | c.218C>T | p.A73V | Missense | 2/8 | - |
| 18-28576873-G-A | DSC3 | c.2377C>T | p.R793W | Missense | 15/16 | - |
| 11-31804941-C-T | ELP4 | c.1144C>T | p.R382* | Nonsense | 10/10 | - |
| 17-27086608-C-A | FAM222B | c.369G>T | p.L123F | Missense | 3/3 | - |
| 6-27834953-C-T | H1-5 | c.355G>A | p.A119T | Missense | 1/1 | - |
| 10-49203482-C-T | FAM25C | c.199G>A | p.E67K | Missense | 3/3 | - |
| X-153736184-C-T | FAM3A | c.343G>A | p.G115S | Missense | 6/9 | - |
| 3-52427483-C-G | DNAH1 | c.10608C>G | p.N3536K | Missense | 66/78 | - |
| 3-52427483-C-A | DNAH1 | c.10608C>A | p.N3536K | Missense | 66/78 | - |
| 12-111884794-C-G | SH2B3 | c.883C>G | p.L295V | Missense | 4/8 | - |
| 4-187584635-T-C | FAT1 | c.3398A>G | p.N1133S | Missense | 3/27 | - |
| 9-5064932-T-C | JAK2 | c.1106T>C | p.I369T | Missense | 9/25 | - |
| 12-12037429-T-G | ETV6 | c.1060T>G | p.Y354D | Missense | 6/8 | - |
| 4-187539308-G-C | FAT1 | c.8432C>G | p.S2811C | Missense | 10/27 | - |
| 9-5029867-T-A | JAK2 | c.311T>A | p.I104K | Missense | 4/25 | - |
| 6-41903731-GGCT-G | CCND3 | c.823_825delAGC | p.S275del | InFrameDeletion | 5/5 | - |
| 9-5069188-G-T | JAK2 | c.1493G>T | p.C498F | Missense | 11/25 | - |
| 19-54657503-C-T | CNOT3 | c.2089C>T | p.R697* | Nonsense | 17/18 | - |
| 12-12037421-A-G | ETV6 | c.1052A>G | p.D351G | Missense | 6/8 | - |
| 22-41573104-C-T | EP300 | c.5389C>T | p.Q1797* | Nonsense | 31/31 | - |
| 5-112177398-A-G | APC | c.6107A>G | p.D2036G | Missense | 16/16 | - |
| 1-93301807-G-T | RPL5 | c.385G>T | p.E129* | Nonsense | 5/8 | - |
| 4-83905750-G-C | LIN54 | c.248C>G | p.T83S | Missense | 2/13 | - |
| 12-6701901-A-C | CHD4 | c.2735T>G | p.L912W | Missense | 18/40 | - |
| 12-6703710-T-C | CHD4 | c.2228A>G | p.Q743R | Missense | 15/40 | - |
| 5-133451675-A-G | TCF7 | c.392A>G | p.Y131C | Missense | 3/10 | - |
| 5-13807746-A-T | DNAH5 | c.7841T>A | p.I2614N | Missense | 47/79 | - |
| 17-15974755-T-G | NCOR1 | c.4120A>C | p.T1374P | Missense | 30/46 | - |
| 4-187539714-C-G | FAT1 | c.8026G>C | p.V2676L | Missense | 10/27 | - |
| 4-187539714-C-A | FAT1 | c.8026G>T | p.V2676L | Missense | 10/27 | - |
| 5-13817722-G-A | DNAH5 | c.6923C>T | p.A2308V | Missense | 42/79 | - |
| 11-85967451-G-A | EED | c.449G>A | p.C150Y | Missense | 5/12 | - |
| 5-113698510-C-T | KCNN2 | c.38C>T | p.P225L | Missense | 1/8 | - |
| 11-62571268-G-A | NXF1 | c.211C>T | p.R71* | Nonsense | 2/21 | - |
| 2-48027281-C-G | MSH6 | c.2159C>G | p.T720R | Missense | 4/10 | - |
| 13-48934242-A-G | RB1 | c.697A>G | p.M233V | Missense | 7/27 | - |
| 13-48953740-T-C | RB1 | c.1343T>C | p.L448P | Missense | 14/27 | - |
| 8-144942442-C-A | EPPK1 | c.4980G>T | p.Q1660H | Missense | 2/3 | - |
| 8-144942442-C-G | EPPK1 | c.4980G>C | p.Q1660H | Missense | 2/3 | - |
| 1-27101130-A-T | ARID1A | c.4412A>T | p.N1471I | Missense | 18/20 | - |
| 15-28357135-T-C | HERC2 | c.14279A>G | p.Y4760C | Missense | 93/93 | - |
| 14-35231374-G-A | BAZ1A | c.3832C>T | p.L1278F | Missense | 24/27 | - |
| 9-134019925-C-T | NUP214 | c.1553C>T | p.S518L | Missense | 12/36 | - |
| 8-144946397-GCCT-G | EPPK1 | c.1022_1024delAGG | p.E341del | InFrameDeletion | 2/3 | - |
| 14-35253041-G-A | BAZ1A | c.1924C>T | p.R642* | Nonsense | 15/27 | - |
| 1-200577998-A-G | KIF14 | c.1514T>C | p.L505P | Missense | 5/30 | - |
| 1-200522847-C-T | KIF14 | c.4616G>A | p.R1539H | Missense | 30/30 | - |
| 13-33344452-A-T | PDS5B | c.3818A>T | p.D1273V | Missense | 32/35 | - |
| 2-60689263-T-A | BCL11A | c.784A>T | p.T262S | Missense | 4/4 | - |
| 9-133729511-G-A | ABL1 | c.140G>A | p.R47H | Missense | 2/11 | - |
| 9-133748373-C-T | ABL1 | c.1034C>T | p.T345I | Missense | 6/11 | - |
| 11-28119460-A-G | KIF18A | c.35T>C | p.M12T | Missense | 2/17 | - |
| 19-36227833-G-A | KMT2B | c.7318G>A | p.E2440K | Missense | 32/37 | - |
| 5-90151628-C-T | ADGRV1 | c.17665C>T | p.H5889Y | Missense | 82/90 | - |
| 19-36216641-G-C | KMT2B | c.3807G>C | p.E1269D | Missense | 13/37 | - |
| 19-36216641-G-T | KMT2B | c.3807G>T | p.E1269D | Missense | 13/37 | - |
| 7-104707194-G-A | KMT2E | c.437G>A | p.C146Y | Missense | 6/27 | - |
| 2-29474043-C-A | ALK | c.2132G>T | p.S711I | Missense | 12/29 | - |
| 7-104746388-G-A | KMT2E | c.2534G>A | p.S845N | Missense | 19/27 | - |
| 9-133921020-C-T | LAMC3 | c.1492C>T | p.H498Y | Missense | 8/28 | - |
| 7-150649785-C-T | KCNH2 | c.1285G>A | p.A429T | Missense | 6/15 | - |
| 17-44626193-G-T | LRRC37A2 | c.3688G>T | p.A1230S | Missense | 9/14 | - |
| 2-80530766-G-A | LRRTM1 | c.179C>T | p.A60V | Missense | 2/2 | - |
| 2-77745523-G-C | LRRTM4 | c.1472C>G | p.T491R | Missense | 3/4 | - |
| 12-6729744-G-A | LPAR5 | c.671C>T | p.T224M | Missense | 2/2 | - |
| 9-130242127-CG-TA | LRSAM1 | c.913_914delCGinsTA | p.R305* | Nonsense | 14/26 | - |
| 6-136732784-C-T | MAP7 | c.218G>A | p.R73Q | Missense | 3/18 | - |
| 10-30915046-C-T | LYZL2 | c.424G>A | p.V96I | Missense | 3/5 | - |
| 11-46921025-G-A | LRP4 | c.460C>T | p.R154C | Missense | 5/38 | - |
| 13-21562810-C-T | LATS2 | c.1109G>A | p.W370* | Nonsense | 4/8 | - |
| 13-21562809-C-T | LATS2 | c.1110G>A | p.W370* | Nonsense | 4/8 | - |
| 2-9000884-T-C | MBOAT2 | c.1196A>G | p.N399S | Missense | 12/13 | - |
| 3-13384796-G-C | NUP210 | c.2843C>G | p.P948R | Missense | 21/40 | - |
| 11-3704450-A-G | NUP98 | c.4898T>C | p.I1633T | Missense | 30/33 | - |
| 19-16855457-C-T | NWD1 | c.424C>T | p.R142C | Missense | 5/19 | - |
| 10-50964960-C-G | OGDHL | c.237G>C | p.E79D | Missense | 3/23 | - |
| 10-50964960-C-A | OGDHL | c.237G>T | p.E79D | Missense | 3/23 | - |
| X-70757830-G-A | OGT | c.370G>A | p.D124N | Missense | 3/22 | - |
| 13-24410410-T-C | MIPEP | c.1622A>G | p.N541S | Missense | 14/19 | - |
| 11-58034968-C-G | OR10W1 | c.363G>C | p.L121F | Missense | 1/1 | - |
| 10-129901855-G-A | MKI67 | c.8249C>T | p.T2750M | Missense | 13/15 | - |
| 17-56247925-A-C | OR4D2 | c.909A>C | p.R303S | Missense | 2/2 | - |
| 17-56247925-A-T | OR4D2 | c.909A>T | p.R303S | Missense | 2/2 | - |
| 1-153740157-G-A | INTS3 | c.2098G>A | p.A700T | Missense | 21/30 | - |
| 5-131819732-C-A | IRF1 | c.889G>T | p.D297Y | Missense | 10/10 | - |
| 11-102477288-C-G | MMP20 | c.931G>C | p.E311Q | Missense | 6/10 | - |
| 7-100648590-G-A | MUC12 | c.14746G>A | p.G4916R | Missense | 2/12 | - |
| 7-100648590-G-C | MUC12 | c.14746G>C | p.G4916R | Missense | 2/12 | - |
| 6-30955283-C-T | MUC21 | c.1331C>T | p.S444F | Missense | 2/3 | - |
| 16-15847362-C-T | MYH11 | c.1753G>A | p.D585N | Missense | 15/41 | - |
| 17-7578526-C-A | TP53 | c.404G>T | p.C135F | Missense | 5/11 | - |
| 14-24737596-G-A | RABGGTA | c.1037C>T | p.T346M | Missense | 11/17 | - |
| 9-134346221-C-T | PRRC2B | c.1958C>T | p.P653L | Missense | 14/32 | - |
| 7-136939680-G-T | PTN | c.41C>A | p.A14E | Missense | 2/5 | - |
| 13-42032580-ACAG-A | RGCC | c.214_216delAGC | p.S72del | InFrameDeletion | 2/5 | - |
| 18-12794477-G-A | PTPN2 | c.1048C>T | p.R350W | Missense | 9/9 | - |
| 3-58385031-G-A | PXK | c.1108G>A | p.V370M | Missense | 12/18 | - |
| 2-220197368-C-T | RESP18 | c.110G>A | p.R37H | Missense | 2/7 | - |
| 14-60193972-G-A | RTN1 | c.1430C>T | p.S477L | Missense | 3/9 | - |
| X-128927710-T-C | SASH3 | c.1045T>C | p.S349P | Missense | 8/8 | - |
| 4-77087449-G-A | SCARB2 | c.1193C>T | p.T398M | Missense | 10/12 | - |
| 4-53786993-C-A | SCFD2 | c.1606G>T | p.A536S | Missense | 6/9 | - |
| 3-38805000-G-C | SCN10A | c.687C>G | p.I229M | Missense | 6/28 | - |
| 20-43959203-A-T | SDC4 | c.248T>A | p.V83E | Missense | 4/5 | - |
| 1-151341586-C-T | SELENBP1 | c.254G>A | p.G85D | Missense | 4/12 | - |
| 15-84245443-G-A | SH3GL3 | c.574G>A | p.E192K | Missense | 6/9 | - |
| 5-140744693-G-A | PCDHGA5 | c.796G>A | p.A266T | Missense | 1/4 | - |
| 5-140581617-G-A | PCDHB11 | c.2270G>A | p.G757E | Missense | 1/1 | - |
| 5-35072835-G-A | PRLR | c.385C>T | p.P129S | Missense | 6/10 | - |
| 13-61987852-C-T | PCDH20 | c.380G>A | p.S127N | Missense | 2/2 | - |
| 12-113806926-C-T | PLBD2 | c.296C>T | p.A99V | Missense | 2/12 | - |
| 16-2161119-G-A | PKD1 | c.4049C>T | p.T1350M | Missense | 15/46 | - |
| 19-56005135-G-A | SSC5D | c.1069G>A | p.A357T | Missense | 7/14 | - |
| 15-42961407-C-T | STARD9 | c.1369C>T | p.L457F | Missense | 16/33 | - |
| 12-10783821-C-T | STYK1 | c.274G>A | p.V92M | Missense | 5/11 | - |
| 10-104377115-T-A | SUFU | c.1226T>A | p.V409D | Missense | 10/12 | - |
| 7-48068434-G-C | SUN3 | c.102C>G | p.D34E | Missense | 1/10 | - |
| 9-114804237-G-T | SUSD1 | c.2153C>A | p.S718* | Nonsense | 16/17 | - |
| 19-36497711-G-A | SYNE4 | c.559C>T | p.R187* | Nonsense | 4/8 | - |
| 16-2825523-C-T | ELOB | c.173G>A | p.G58D | Missense | 3/4 | - |
| 6-24651074-C-T | TDP2 | c.1031G>A | p.C344Y | Missense | 7/7 | - |
| 14-20850175-G-T | TEP1 | c.4321C>A | p.L1441I | Missense | 30/55 | - |
| 15-43525493-C-T | TGM5 | c.2059G>A | p.V687I | Missense | 13/13 | - |
| 10-21804276-T-G | SKIDA1 | c.2476A>C | p.I826L | Missense | 4/4 | - |
| 10-112362638-G-A | SMC3 | c.3353G>A | p.G1118E | Missense | 27/29 | - |
| 16-67262994-G-A | TMEM208 | c.500G>A | p.R167Q | Missense | 6/6 | - |
| 5-109760592-G-T | TMEM232 | c.1729C>A | p.P577T | Missense | 13/14 | - |
| 11-108175462-G-A | ATM | c.5557G>A | p.D1853N | Missense | 37/63 | - |
| 13-32953550-G-A | BRCA2 | c.8851G>A | p.A2951T | Missense | 22/27 | - |
| 6-32007887-G-T | CYP21A2 | c.844G>T | p.V282L | Missense | 7/10 | - |
| 1-209791388-C-T | LAMB3 | c.2915G>A | p.R972Q | Missense | 20/23 | - |
| 2-60689149-C-T | BCL11A | c.898G>A | p.V300M | Missense | 4/4 | - |
| 2-170088305-A-T | LRP2 | c.5146T>A | p.S1716T | Missense | 31/79 | - |
| 2-170042152-G-A | LRP2 | c.9706C>T | p.R3236* | Nonsense | 50/79 | - |
| 20-46265324-A-G | NCOA3 | c.2194A>G | p.K732E | Missense | 12/23 | - |
| 5-142689677-C-A | NR3C1 | c.1453G>T | p.G485* | Nonsense | 4/9 | - |
| 10-486826-C-T | DIP2C | c.379G>A | p.A127T | Missense | 4/37 | - |
| 11-83676428-T-G | DLG2 | c.1140A>C | p.K380N | Missense | 13/28 | - |
| 11-83676428-T-A | DLG2 | c.1140A>T | p.K380N | Missense | 13/28 | - |
| 5-142680050-CTGG-C | NR3C1 | c.1744_1746delCCA | p.P582del | InFrameDeletion | 5/9 | - |
| X-13645250-G-A | EGFL6 | c.1406G>A | p.R469Q | Missense | 11/12 | - |
| 5-127668655-A-G | FBN2 | c.4171T>C | p.F1391L | Missense | 32/65 | - |
| 5-127668653-G-T | FBN2 | c.4173C>A | p.F1391L | Missense | 32/65 | - |
| 5-127668653-G-C | FBN2 | c.4173C>G | p.F1391L | Missense | 32/65 | - |
| 1-152275273-G-A | FLG | c.12089C>T | p.T4030M | Missense | 3/3 | - |
| 6-51907737-A-G | PKHD1 | c.3017T>C | p.I1006T | Missense | 27/67 | - |
| 16-71712697-A-T | PHLPP2 | c.1229T>A | p.V410E | Missense | 8/19 | - |
| 11-66243540-G-A | PELI3 | c.1312G>A | p.G438S | Missense | 8/8 | - |
| 17-27234622-T-C | PHF12 | c.2527A>G | p.I843V | Missense | 13/15 | - |
| 3-129291461-G-A | PLXND1 | c.3068C>T | p.T1023M | Missense | 15/36 | - |
| 19-44116562-G-A | SRRM5 | c.289G>A | p.D97N | Missense | 1/1 | - |
| 18-60052089-G-T | TNFRSF11A | c.1673G>T | p.G558V | Missense | 10/10 | - |
| 16-24833448-C-G | TNRC6A | c.5353C>G | p.L1785V | Missense | 23/25 | - |
| X-53423242-G-A | SMC1A | c.2767C>T | p.R923C | Missense | 18/25 | - |
| 12-72666977-G-A | TRHDE | c.419G>A | p.R185H | Missense | 1/19 | - |
| 5-180661192-C-T | TRIM41 | c.1310C>T | p.P437L | Missense | 6/6 | - |
| 12-51382116-C-T | SLC11A2 | c.1678G>A | p.V560I | Missense | 16/16 | - |
| 19-49703932-C-T | TRPM4 | c.2843C>T | p.T948M | Missense | 19/25 | - |
| 20-45194884-G-T | SLC13A3 | c.1478C>A | p.P493Q | Missense | 11/13 | - |
| 14-52899126-T-C | TXNDC16 | c.2374A>G | p.I792V | Missense | 21/21 | - |
| 7-157013401-C-T | UBE3C | c.1933C>T | p.P645S | Missense | 15/23 | - |
| 11-78565342-CAG-AAA | TENM4 | c.1486_1488delCTGinsTTT | p.L496F | Missense | 12/34 | - |
| 8-11990453-C-A | USP17L7 | c.1066G>T | p.A356S | Missense | 1/1 | - |
| 3-49323726-C-T | USP4 | c.2005G>A | p.E669K | Missense | 16/22 | - |
| 4-25678174-TGCC-T | SLC34A2 | c.1879_1881delCGC | p.R627del | InFrameDeletion | 13/13 | - |
| 2-61760952-T-A | XPO1 | c.81A>T | p.L27F | Missense | 2/25 | - |
| 2-61760952-T-G | XPO1 | c.81A>C | p.L27F | Missense | 2/25 | - |
| 18-60242633-T-C | ZCCHC2 | c.3319T>C | p.F1107L | Missense | 13/14 | - |
| 18-60242635-C-A | ZCCHC2 | c.3321C>A | p.F1107L | Missense | 13/14 | - |
| 8-38205505-G-T | NSD3 | c.185C>A | p.T62K | Missense | 2/24 | - |
| 15-41101378-T-C | ZFYVE19 | c.341T>C | p.V114A | Missense | 2/11 | - |
| 19-4047833-C-T | ZBTB7A | c.1672G>A | p.V558I | Missense | 3/3 | - |
| 19-30020741-G-A | VSTM2B | c.313G>A | p.G105S | Missense | 4/5 | - |
| X-22292324-C-T | CBLL2 | c.1216C>T | p.P406S | Missense | 1/1 | - |
| 22-24086007-G-T | ZNF70 | c.1321C>A | p.H441N | Missense | 2/2 | - |
| 3-10183577-G-A | VHL | c.46G>A | p.E16K | Missense | 1/3 | - |
| 7-63809171-C-G | ZNF736 | c.930C>G | p.D310E | Missense | 4/4 | - |
| 7-63809171-C-A | ZNF736 | c.930C>A | p.D310E | Missense | 4/4 | - |
| 19-19916867-T-C | ZNF506 | c.199A>G | p.R67G | Missense | 3/4 | - |
| 5-82836546-A-T | VCAN | c.7724A>T | p.N2575I | Missense | 8/15 | - |
| 8-21842186-C-T | XPO7 | c.1307C>T | p.T436M | Missense | 12/28 | - |
| 1-65310517-C-T | JAK1 | c.2171G>A | p.R724H | Missense | 16/25 | - |
| 1-21890596-G-A | ALPL | c.535G>A | p.A179T | Missense | 6/12 | - |
| 7-107334902-A-T | SLC26A4 | c.1318A>T | p.K440* | Nonsense | 11/21 | - |
| 10-89692904-C-T | PTEN | c.388C>T | p.R130* | Nonsense | 5/9 | - |
| 13-32914592-C-T | BRCA2 | c.6100C>T | p.R2034C | Missense | 11/27 | - |
| 1-115256533-C-T | NRAS | c.178G>A | p.G60R | Missense | 3/7 | - |
| 12-112888165-G-T | PTPN11 | c.181G>T | p.D61Y | Missense | 3/16 | - |
| 1-115252203-G-A | NRAS | c.437C>T | p.A146V | Missense | 4/7 | - |
| 1-115256533-C-G | NRAS | c.178G>C | p.G60R | Missense | 3/7 | - |
| 6-35471540-G-A | TULP1 | c.1198C>T | p.R400W | Missense | 12/15 | - |
| 7-140453150-A-C | BRAF | c.1785T>G | p.F595L | Missense | 15/18 | - |
| 7-143028408-G-A | CLCN1 | c.1063G>A | p.G355R | Missense | 9/23 | - |
| 7-140453152-A-G | BRAF | c.1783T>C | p.F595L | Missense | 15/18 | - |
| 7-140453150-A-T | BRAF | c.1785T>A | p.F595L | Missense | 15/18 | - |
| 1-115258748-C-T | NRAS | c.34G>A | p.G12S | Missense | 2/7 | - |
| 1-115258744-C-A | NRAS | c.38G>T | p.G13V | Missense | 2/7 | - |
| 4-55593464-A-C | KIT | c.1621A>C | p.M541L | Missense | 10/21 | - |
| 1-65312382-G-A | JAK1 | c.1937C>T | p.S646F | Missense | 14/25 | - |
| 19-17945969-C-T | JAK3 | c.1970G>A | p.R657Q | Missense | 15/24 | - |
| 19-17945918-A-G | JAK3 | c.2021T>C | p.V674A | Missense | 15/24 | - |
| X-133549136-C-T | PHF6 | c.820C>T | p.R274* | Nonsense | 8/11 | - |
| X-133547940-C-T | PHF6 | c.673C>T | p.R225* | Nonsense | 7/11 | - |
| 8-38274849-G-T | FGFR1 | c.1638C>A | p.N546K | Missense | 12/18 | - |
| 10-89717615-C-T | PTEN | c.640C>T | p.Q214* | Nonsense | 7/9 | - |
| 5-89971183-G-A | ADGRV1 | c.5234G>A | p.R1745H | Missense | 24/90 | - |
| 17-79478612-G-A | ACTG1 | c.404C>T | p.A135V | Missense | 4/6 | - |
| 12-49432743-T-C | KMT2D | c.8396A>G | p.Y2799C | Missense | 35/55 | - |
| 12-49434652-G-A | KMT2D | c.6901C>T | p.P2301S | Missense | 32/55 | - |
| 10-8106004-G-A | GATA3 | c.827G>A | p.R276Q | Missense | 4/6 | - |
| 10-8106036-G-A | GATA3 | c.859G>A | p.A287T | Missense | 4/6 | - |
| 10-8106042-G-A | GATA3 | c.865G>A | p.G289R | Missense | 4/6 | - |
| 10-8106073-G-A | GATA3 | c.896G>A | p.R299Q | Missense | 4/6 | - |
| 12-49430961-G-A | KMT2D | c.10178C>T | p.P3393L | Missense | 35/55 | - |
| 12-49439863-C-T | KMT2D | c.4678G>A | p.V1560M | Missense | 18/55 | - |
| 12-49431181-C-T | KMT2D | c.9958G>A | p.A3320T | Missense | 35/55 | - |
| 3-127318284-C-T | MCM2 | c.130C>T | p.R44C | Missense | 2/16 | - |
| 12-49444078-A-G | KMT2D | c.3293T>C | p.M1098T | Missense | 12/55 | - |
| 21-44524456-G-T | U2AF1 | c.101C>A | p.S34Y | Missense | 2/8 | - |
| 2-26705384-G-T | OTOF | c.1469C>A | p.P490Q | Missense | 14/47 | - |
| 9-139397768-A-G | NOTCH1 | c.5033T>C | p.L1678P | Missense | 27/34 | - |
| 1-115252204-C-T | NRAS | c.436G>A | p.A146T | Missense | 4/7 | - |
| X-41203603-C-T | DDX3X | c.976C>T | p.R326C | Missense | 10/17 | - |
| 10-89692918-G-C | PTEN | c.402G>C | p.M134I | Missense | 5/9 | - |
| 10-89692918-G-A | PTEN | c.402G>A | p.M134I | Missense | 5/9 | - |
| 10-89692918-G-T | PTEN | c.402G>T | p.M134I | Missense | 5/9 | - |
| 10-89692905-G-C | PTEN | c.389G>C | p.R130P | Missense | 5/9 | - |
| 16-30748691-C-T | SRCAP | c.7330C>T | p.R2444* | Nonsense | 34/34 | - |
| 19-17949108-C-T | JAK3 | c.1533G>A | p.M511I | Missense | 11/24 | - |
| 19-17949108-C-A | JAK3 | c.1533G>T | p.M511I | Missense | 11/24 | - |
| 1-9777666-C-A | PIK3CD | c.1002C>A | p.N334K | Missense | 8/24 | - |
| 1-9779982-T-C | PIK3CD | c.1246T>C | p.C416R | Missense | 10/24 | - |
| 17-40359659-T-A | STAT5B | c.1994A>T | p.Y665F | Missense | 16/19 | - |
| 7-151882672-C-A | KMT2C | c.5053G>T | p.A1685S | Missense | 34/59 | - |
| 7-121773587-C-T | AASS | c.194G>A | p.R65Q | Missense | 2/24 | - |
| 16-23641218-G-A | PALB2 | c.2257C>T | p.R753* | Nonsense | 5/13 | - |
| 19-17943438-A-G | JAK3 | c.2570T>C | p.L857P | Missense | 19/24 | - |
| X-153628245-C-A | RPL10 | c.292C>A | p.R98S | Missense | 5/7 | - |
| 19-17948006-G-A | JAK3 | c.1718C>T | p.A573V | Missense | 13/24 | - |
| 17-40359729-T-G | STAT5B | c.1924A>C | p.N642H | Missense | 16/19 | - |
| 19-17949108-C-G | JAK3 | c.1533G>C | p.M511I | Missense | 11/24 | - |
| 1-155205518-C-G | GBA | c.1342G>C | p.D448H | Missense | 9/11 | - |
| 19-17948009-G-A | JAK3 | c.1715C>T | p.A572V | Missense | 13/24 | - |
| 1-11169377-T-A | MTOR | c.7498A>T | p.I2500F | Missense | 56/58 | - |
| 17-7579358-C-T | TP53 | c.329G>A | p.R110H | Missense | 4/11 | - |
| 14-38061240-G-A | FOXA1 | c.749C>T | p.S250F | Missense | 2/2 | - |
| 13-49030387-G-A | RB1 | c.1862G>A | p.R621H | Missense | 19/27 | - |
| 2-16082317-C-T | MYCN | c.131C>T | p.P44L | Missense | 2/3 | - |
| 13-28578254-G-A | FLT3 | c.2917C>T | p.R973* | Nonsense | 24/24 | - |
| 12-112888199-C-A | PTPN11 | c.215C>A | p.A72D | Missense | 3/16 | - |
| 13-52523908-G-C | ATP7B | c.2755C>G | p.R919G | Missense | 12/21 | - |
| 12-6634818-G-A | NCAPD2 | c.2284G>A | p.E762K | Missense | 18/32 | - |
| 12-123889492-A-C | KMT5A | c.719A>C | p.D240A | Missense | 7/8 | - |
| 14-99641781-G-C | BCL11B | c.1392C>G | p.C464W | Missense | 4/4 | - |
| 3-47103717-G-A | SETD2 | c.6229C>T | p.R2077* | Nonsense | 14/21 | - |
| 16-3808895-G-A | CREBBP | c.3329C>T | p.P1110L | Missense | 17/31 | - |
| 10-76735333-T-C | KAT6B | c.1238T>C | p.I413T | Missense | 8/18 | - |
| 9-21974694-C-G | CDKN2A | c.133G>C | p.G45R | Missense | 1/3 | - |
| 7-151860230-G-C | KMT2C | c.10432C>G | p.Q3478E | Missense | 43/59 | - |
| 9-139440184-C-G | NOTCH1 | c.55G>C | p.A19P | Missense | 1/34 | - |
| X-133512107-C-T | PHF6 | c.211C>T | p.Q71* | Nonsense | 3/11 | - |
| 16-3900336-C-T | CREBBP | c.760G>A | p.A254T | Missense | 2/31 | - |
| 12-112888163-G-T | PTPN11 | c.179G>T | p.G60V | Missense | 3/16 | - |
| 7-21742391-C-T | DNAH11 | c.6244C>T | p.R2082* | Nonsense | 37/82 | - |
| X-133527949-C-T | PHF6 | c.385C>T | p.R129* | Nonsense | 5/11 | - |
| X-133551319-C-T | PHF6 | c.955C>T | p.R319* | Nonsense | 9/11 | - |
| 1-115256532-C-T | NRAS | c.179G>A | p.G60E | Missense | 3/7 | - |
| 19-17942143-C-T | JAK3 | c.2872G>A | p.E958K | Missense | 21/24 | - |
| 9-139399408-GCAC-G | NOTCH1 | c.4732_4734delGTG | p.V1578del | InFrameDeletion | 26/34 | - |
| 1-190250791-C-T | BRINP3 | c.326G>A | p.R109H | Missense | 3/8 | - |
| 3-47147534-G-A | SETD2 | c.4792C>T | p.R1598* | Nonsense | 6/21 | - |
| 19-52716334-C-T | PPP2R1A | c.778C>T | p.R260C | Missense | 6/15 | - |
| 17-41267785-A-T | BRCA1 | c.92T>A | p.I31N | Missense | 3/23 | - |
| 1-65312365-A-G | JAK1 | c.1954T>C | p.Y652H | Missense | 14/25 | - |
| 12-112924286-C-T | PTPN11 | c.1232C>T | p.T411M | Missense | 11/16 | - |
| 11-108122700-T-C | ATM | c.1744T>C | p.F582L | Missense | 11/63 | - |
| 4-106196936-C-G | TET2 | c.5269C>G | p.H1757D | Missense | 11/11 | - |
| 9-139399344-A-G | NOTCH1 | c.4799T>C | p.L1600P | Missense | 26/34 | - |
| 7-140624440-C-T | BRAF | c.64G>A | p.D22N | Missense | 1/18 | - |
| 2-190428912-C-T | SLC40A1 | c.800G>A | p.G267D | Missense | 7/8 | - |
| 9-139399365-A-G | NOTCH1 | c.4778T>C | p.L1593P | Missense | 26/34 | - |
| 9-139399350-C-G | NOTCH1 | c.4793G>C | p.R1598P | Missense | 26/34 | - |
| 9-139399368-A-G | NOTCH1 | c.4775T>C | p.F1592S | Missense | 26/34 | - |
| 9-139399356-A-T | NOTCH1 | c.4787T>A | p.L1596H | Missense | 26/34 | - |
| 16-67650710-C-T | CTCF | c.1015C>T | p.R339W | Missense | 5/12 | - |
| 1-65311203-C-A | JAK1 | c.2108G>T | p.S703I | Missense | 15/25 | - |
| 10-8106003-C-T | GATA3 | c.826C>T | p.R276W | Missense | 4/6 | - |
| 4-104579420-C-T | TACR3 | c.689G>A | p.R230H | Missense | 2/5 | - |
| 3-49455325-C-T | AMT | c.959G>A | p.R320H | Missense | 8/9 | - |
| 9-139397640-C-T | NOTCH1 | c.5161G>A | p.V1721M | Missense | 27/34 | - |
| 1-9777666-C-G | PIK3CD | c.1002C>G | p.N334K | Missense | 8/24 | - |
| 8-100454845-C-T | VPS13B | c.3427C>T | p.R1143* | Nonsense | 23/62 | - |
| 10-43315975-G-A | BMS1 | c.2789G>A | p.R930H | Missense | 17/23 | - |
| 9-97372280-C-T | FBP1 | c.490G>A | p.G164S | Missense | 4/7 | - |
| 11-113287657-C-T | DRD2 | c.460G>A | p.V154I | Missense | 4/8 | - |
| 19-17943384-A-T | JAK3 | c.2624T>A | p.L875H | Missense | 19/24 | - |
| X-138633272-G-A | F9 | c.572G>A | p.R191H | Missense | 6/8 | - |
| 9-139390816-G-A | NOTCH1 | c.7375C>T | p.Q2459* | Nonsense | 34/34 | - |
| 2-16082406-C-T | MYCN | c.220C>T | p.P74S | Missense | 2/3 | - |
| 10-8106042-G-C | GATA3 | c.865G>C | p.G289R | Missense | 4/6 | - |
| 9-139399422-A-G | NOTCH1 | c.4721T>C | p.L1574P | Missense | 26/34 | - |
| 9-139397762-A-T | NOTCH1 | c.5039T>A | p.I1680N | Missense | 27/34 | - |
| 9-139390791-G-T | NOTCH1 | c.7400C>A | p.S2467* | Nonsense | 34/34 | - |
| 18-58039087-C-T | MC4R | c.496G>A | p.V166I | Missense | 1/1 | - |
| X-133551267-C-A | PHF6 | c.903C>A | p.Y301* | Nonsense | 9/11 | - |
| 9-139399344-A-T | NOTCH1 | c.4799T>A | p.L1600Q | Missense | 26/34 | - |
| 9-139399389-A-G | NOTCH1 | c.4754T>C | p.L1585P | Missense | 26/34 | - |
| 12-12037474-C-T | ETV6 | c.1105C>T | p.R369W | Missense | 6/8 | - |
| 17-7577023-C-A | TP53 | c.915G>T | p.K305N | Missense | 8/11 | - |
| 6-64791763-C-T | EYS | c.6557G>A | p.G2186E | Missense | 32/43 | - |
| 19-33792438-C-T | CEBPA | c.883G>A | p.A295T | Missense | 1/1 | - |
| 16-23563572-T-C | EARS2 | c.193A>G | p.K65E | Missense | 2/9 | - |
| 17-7577023-C-G | TP53 | c.915G>C | p.K305N | Missense | 8/11 | - |
| 12-111886081-T-C | SH2B3 | c.1703T>C | p.I568T | Missense | 8/8 | - |
| 7-152009027-G-A | KMT2C | c.595C>T | p.R199* | Nonsense | 5/59 | - |
| 16-68863620-G-A | CDH1 | c.2359G>A | p.V787I | Missense | 15/16 | - |
| 9-139397639-A-C | NOTCH1 | c.5162T>G | p.V1721G | Missense | 27/34 | - |
| X-70344125-C-T | MED12 | c.1861C>T | p.R621* | Nonsense | 13/45 | - |
| 12-12037475-G-C | ETV6 | c.1106G>C | p.R369P | Missense | 6/8 | - |
| 9-8484269-C-T | PTPRD | c.3263G>A | p.R1088H | Missense | 30/46 | - |
| 1-65305421-C-T | JAK1 | c.2707G>A | p.E903K | Missense | 20/25 | - |
| 9-139390636-G-A | NOTCH1 | c.7555C>T | p.Q2519* | Nonsense | 34/34 | - |
| 20-57484607-C-T | GNAS | c.691C>T | p.R231C | Missense | 9/13 | - |
| 17-59821806-G-C | BRIP1 | c.2244C>G | p.Y748* | Nonsense | 15/20 | - |
| 15-48812913-G-A | FBN1 | c.1090C>T | p.R364* | Nonsense | 10/66 | - |
| 20-57480483-C-T | GNAS | c.478C>T | p.R160C | Missense | 6/13 | - |
| 9-139391020-G-A | NOTCH1 | c.7171C>T | p.Q2391* | Nonsense | 34/34 | - |
| 9-139390732-G-A | NOTCH1 | c.7459C>T | p.Q2487* | Nonsense | 34/34 | - |
| 9-139390999-G-A | NOTCH1 | c.7192C>T | p.Q2398* | Nonsense | 34/34 | - |
| 9-139391011-G-A | NOTCH1 | c.7180C>T | p.Q2394* | Nonsense | 34/34 | - |
| 9-139390690-G-A | NOTCH1 | c.7501C>T | p.Q2501* | Nonsense | 34/34 | - |
| 11-73717343-G-A | UCP3 | c.208C>T | p.R70W | Missense | 3/7 | - |
| 11-14380349-C-G | RRAS2 | c.68G>C | p.G23A | Missense | 1/6 | - |
| 9-139399410-A-T | NOTCH1 | c.4733T>A | p.V1578E | Missense | 26/34 | - |
| 10-79796988-C-T | RPS24 | c.316C>T | p.Q106* | Nonsense | 4/6 | - |
| 11-94760049-G-A | KDM4E | c.1328G>A | p.R443H | Missense | 1/1 | - |
| 1-221057961-C-T | HLX | c.1382C>T | p.S461L | Missense | 4/4 | - |
| X-70339653-C-T | MED12 | c.322C>T | p.R108* | Nonsense | 3/45 | - |
| 10-21804276-T-A | SKIDA1 | c.2476A>T | p.I826L | Missense | 4/4 | - |
| 15-42059392-C-T | MGA | c.9112C>T | p.R3038W | Missense | 24/24 | - |
| 17-10426689-C-T | MYH2 | c.5513G>A | p.R1838H | Missense | 38/40 | - |
| 9-101832136-G-A | COL15A1 | c.4135G>A | p.E1379K | Missense | 42/42 | - |
| 20-31022694-G-T | ASXL1 | c.2179G>T | p.E727* | Nonsense | 13/13 | - |
| 1-224345383-C-T | FBXO28 | c.1042C>T | p.R348* | Nonsense | 5/5 | - |
| 12-54369172-A-C | HOXC11 | c.890A>C | p.Y297S | Missense | 2/2 | - |
| 2-25964939-C-T | ASXL2 | c.4267G>A | p.G1423S | Missense | 13/13 | - |
| X-41205589-C-T | DDX3X | c.1423C>T | p.R475C | Missense | 13/17 | - |
| 1-93300390-G-A | RPL5 | c.244G>A | p.E82K | Missense | 4/8 | - |
| 8-38274849-G-C | FGFR1 | c.1638C>G | p.N546K | Missense | 12/18 | - |
| 5-112164584-G-A | APC | c.1658G>A | p.W553* | Nonsense | 14/16 | - |
| 14-23893216-C-T | MYH7 | c.2822G>A | p.R941H | Missense | 23/40 | - |
| 19-13007763-G-A | GCDH | c.892G>A | p.A298T | Missense | 9/12 | - |
| 21-27264120-C-T | APP | c.2125G>A | p.G709S | Missense | 17/18 | - |
| 2-48026048-C-A | MSH6 | c.926C>A | p.S309Y | Missense | 4/10 | - |
| 1-68910276-C-T | RPE65 | c.433G>A | p.A145T | Missense | 5/14 | - |
| 12-111885287-G-A | SH2B3 | c.1175G>A | p.R392Q | Missense | 6/8 | - |
| 7-13971292-G-A | ETV1 | c.637C>T | p.R213C | Missense | 9/14 | - |
| 9-139399389-A-T | NOTCH1 | c.4754T>A | p.L1585Q | Missense | 26/34 | - |
| 9-139390653-G-A | NOTCH1 | c.7538C>T | p.S2513F | Missense | 34/34 | - |
| 8-128750579-A-G | MYC | c.116A>G | p.Y39C | Missense | 2/3 | - |
| 9-139412291-C-T | NOTCH1 | c.1354G>A | p.D452N | Missense | 8/34 | - |
| 20-31022598-C-T | ASXL1 | c.2083C>T | p.Q695* | Nonsense | 13/13 | - |
| 1-152129115-T-C | RPTN | c.460A>G | p.R154G | Missense | 3/3 | - |
| 6-25727438-G-A | H2BC1 | c.302G>A | p.R101H | Missense | 1/1 | - |
| 9-139397762-A-C | NOTCH1 | c.5039T>G | p.I1680S | Missense | 27/34 | - |
| 17-30267331-C-T | SUZ12 | c.301C>T | p.R101* | Nonsense | 2/16 | - |
| 1-27057754-C-T | ARID1A | c.1462C>T | p.Q488* | Nonsense | 3/20 | - |
| 2-71060783-G-A | CD207 | c.559C>T | p.R187* | Nonsense | 3/6 | - |
| X-53231092-C-T | KDM5C | c.1810G>A | p.G604S | Missense | 13/26 | - |
| 11-4945161-C-T | OR51G1 | c.409G>A | p.V137I | Missense | 1/1 | - |
| 15-23086362-CCGG-C | NIPA1 | c.47_49delCCG | p.A16del | InFrameDeletion | 1/5 | - |
| 12-49438647-G-A | KMT2D | c.4843C>T | p.R1615* | Nonsense | 20/55 | - |
| 1-198701644-G-A | PTPRC | c.2101G>A | p.G701R | Missense | 20/33 | - |
| 1-198701644-G-C | PTPRC | c.2101G>C | p.G701R | Missense | 20/33 | - |
| 20-31022278-A-G | ASXL1 | c.1763A>G | p.Q588R | Missense | 13/13 | - |
| 9-2039818-ACAG-A | SMARCA2 | c.713_715delAGC | p.Q238del | InFrameDeletion | 4/34 | - |
| 9-139397772-AGAC-A | NOTCH1 | c.5026_5028delGTC | p.V1676del | InFrameDeletion | 27/34 | - |
| 16-67654615-C-T | CTCF | c.1102C>T | p.R368C | Missense | 6/12 | - |
| 1-152281253-G-A | FLG | c.6109C>T | p.R2037* | Nonsense | 3/3 | - |
| 1-65309803-G-A | JAK1 | c.2347C>T | p.L783F | Missense | 17/25 | - |
| 11-71150026-C-T | DHCR7 | c.730G>A | p.G244R | Missense | 7/9 | - |
| 9-139399341-T-G | NOTCH1 | c.4802A>C | p.H1601P | Missense | 26/34 | - |
| 8-144945693-T-C | EPPK1 | c.1729A>G | p.I577V | Missense | 2/3 | - |
| 5-112170769-A-G | APC | c.1865A>G | p.Y622C | Missense | 15/16 | - |
| 21-36259286-C-G | RUNX1 | c.205G>C | p.G69R | Missense | 4/9 | - |
| 12-111160344-A-G | PPP1CC | c.680T>C | p.F227S | Missense | 5/7 | - |
| 9-139399296-A-T | NOTCH1 | c.4847T>A | p.I1616N | Missense | 26/34 | - |
| 7-100730882-G-A | TRIM56 | c.289G>A | p.G97R | Missense | 3/3 | - |
| 9-103109183-A-G | TEX10 | c.686T>C | p.V229A | Missense | 3/15 | - |
| 11-5878524-G-A | OR52E8 | c.409C>T | p.R137W | Missense | 1/1 | - |
| 5-178562924-G-A | ADAMTS2 | c.2071C>T | p.R691C | Missense | 13/22 | - |
| 16-81927336-C-T | PLCG2 | c.1009C>T | p.R337W | Missense | 12/33 | - |
| 12-110385110-G-A | GIT2 | c.1592C>T | p.A531V | Missense | 15/20 | - |
| 4-149356404-G-A | NR3C2 | c.1609C>T | p.R537* | Nonsense | 2/9 | - |
| 4-619806-G-A | PDE6B | c.391G>A | p.V131I | Missense | 1/22 | - |
| 5-13786383-G-A | DNAH5 | c.8725C>T | p.R2909C | Missense | 52/79 | - |
| 19-42754051-G-A | ERF | c.301C>T | p.R101W | Missense | 3/4 | - |
| 17-36997521-G-A | C17orf98 | c.122C>T | p.P41L | Missense | 1/3 | - |
| 17-29563008-C-T | NF1 | c.3943C>T | p.Q1315* | Nonsense | 29/58 | - |
| 1-22412955-C-T | CDC42 | c.202C>T | p.R68* | Nonsense | 4/6 | - |
| 8-133885349-G-T | TG | c.521G>T | p.G174V | Missense | 5/48 | - |
| X-133551224-G-A | PHF6 | c.860G>A | p.G287D | Missense | 9/11 | - |
| 11-71150026-C-G | DHCR7 | c.730G>C | p.G244R | Missense | 7/9 | - |
| 2-174820034-C-A | SP3 | c.1206G>T | p.E402D | Missense | 4/7 | - |
| 14-51094837-G-A | ATL1 | c.1208G>A | p.R403Q | Missense | 12/14 | - |
| 11-64416245-C-T | NRXN2 | c.3244G>A | p.A1082T | Missense | 16/23 | - |
| 9-20414151-T-G | MLLT3 | c.693A>C | p.E231D | Missense | 5/11 | - |
| 16-72993099-T-G | ZFHX3 | c.946A>C | p.I316L | Missense | 2/10 | - |
| 2-174820282-T-C | SP3 | c.958A>G | p.I320V | Missense | 4/7 | - |
| 2-174820267-T-C | SP3 | c.973A>G | p.T325A | Missense | 4/7 | - |
| 17-11554619-G-C | DNAH9 | c.2331G>C | p.E777D | Missense | 13/69 | - |
| 16-4731719-G-A | MGRN1 | c.1300G>A | p.D434N | Missense | 13/17 | - |
| 7-121650515-C-T | PTPRZ1 | c.1415C>T | p.T472M | Missense | 12/30 | - |
| 5-78181606-G-A | ARSB | c.943C>T | p.R315* | Nonsense | 5/8 | - |
| 9-139390743-G-A | NOTCH1 | c.7448C>T | p.T2483M | Missense | 34/34 | - |
| 12-12037400-A-G | ETV6 | c.1031A>G | p.Y344C | Missense | 6/8 | - |
| 11-65631972-G-A | MUS81 | c.1064G>A | p.R355Q | Missense | 11/16 | - |
| 4-69107481-G-A | TMPRSS11B | c.50C>T | p.T17M | Missense | 2/10 | - |
| 5-112164585-G-A | APC | c.1659G>A | p.W553* | Nonsense | 14/16 | - |
| 14-99642134-G-A | BCL11B | c.1039C>T | p.R347* | Nonsense | 4/4 | - |
| 9-139397700-C-G | NOTCH1 | c.5101G>C | p.A1701P | Missense | 27/34 | - |
| 9-135781089-C-T | TSC1 | c.1876G>A | p.E626K | Missense | 15/23 | - |
| 9-20414151-T-A | MLLT3 | c.693A>T | p.E231D | Missense | 5/11 | - |
| 3-132384669-G-A | UBA5 | c.164G>A | p.R55H | Missense | 2/12 | - |
| 7-151860026-G-A | KMT2C | c.10636C>T | p.Q3546* | Nonsense | 43/59 | - |
| 16-9923507-G-A | GRIN2A | c.1780C>T | p.P594S | Missense | 9/13 | - |
| 14-99642475-G-A | BCL11B | c.698C>T | p.A233V | Missense | 4/4 | - |
| 8-128750755-C-T | MYC | c.292C>T | p.R98W | Missense | 2/3 | - |
| 1-193111012-T-A | CDC73 | c.545T>A | p.I182N | Missense | 7/17 | - |
| 7-151873303-G-A | KMT2C | c.9235C>T | p.R3079* | Nonsense | 38/59 | - |
| 1-190067930-G-A | BRINP3 | c.1519C>T | p.R507* | Nonsense | 8/8 | - |
| 4-187521435-T-C | FAT1 | c.11720A>G | p.N3907S | Missense | 22/27 | - |
| 10-81052039-G-A | ZMIZ1 | c.883G>A | p.A295T | Missense | 11/25 | - |
| 12-103234277-T-C | PAH | c.1216A>G | p.I406V | Missense | 12/13 | - |
| 12-69222593-G-A | MDM2 | c.566G>A | p.R189H | Missense | 8/11 | - |
| 2-68882334-G-A | PROKR1 | c.808G>A | p.E270K | Missense | 3/3 | - |
| 16-9210656-T-A | C16orf72 | c.715T>A | p.S239T | Missense | 4/4 | - |
| 10-70516223-G-A | CCAR1 | c.1819G>A | p.E607K | Missense | 14/25 | - |
| 9-77614725-T-C | CARNMT1 | c.652A>G | p.I218V | Missense | 4/8 | - |
| 1-90472996-G-C | ZNF326 | c.302G>C | p.S101T | Missense | 5/12 | - |
| 11-4388696-G-A | OR52B4 | c.830C>T | p.P277L | Missense | 1/1 | - |
| 14-89069271-C-G | ZC3H14 | c.1614C>G | p.D538E | Missense | 12/17 | - |
| 14-89069308-G-T | ZC3H14 | c.1651G>T | p.A551S | Missense | 12/17 | - |
| 16-9210599-T-C | C16orf72 | c.658T>C | p.S220P | Missense | 4/4 | - |
| 9-139397768-A-T | NOTCH1 | c.5033T>A | p.L1678Q | Missense | 27/34 | - |
| 9-139397714-G-T | NOTCH1 | c.5087C>A | p.A1696D | Missense | 27/34 | - |
| 2-98354040-G-A | ZAP70 | c.1394G>A | p.R465H | Missense | 11/14 | - |
| 5-140739737-G-A | PCDHGB2 | c.35G>A | p.R12Q | Missense | 1/4 | - |
| 9-139390660-T-G | NOTCH1 | c.7531A>C | p.T2511P | Missense | 34/34 | - |
| 21-36164830-A-T | RUNX1 | c.1045T>A | p.Y349N | Missense | 9/9 | - |
| 16-3779343-G-A | CREBBP | c.5705C>T | p.T1902M | Missense | 31/31 | - |
| 11-28113042-G-A | KIF18A | c.502C>T | p.R168C | Missense | 4/17 | - |
| 3-195492266-C-T | MUC4 | c.13673G>A | p.R4558H | Missense | 9/25 | - |
| 12-49433282-G-C | KMT2D | c.8165C>G | p.A2722G | Missense | 33/55 | - |
| 17-15983291-C-T | NCOR1 | c.3488G>A | p.G1163D | Missense | 26/46 | - |
| 19-10087235-G-A | COL5A3 | c.3341C>T | p.P1114L | Missense | 45/67 | - |
| 3-7620637-C-T | GRM7 | c.2044C>T | p.R682C | Missense | 8/10 | - |
| 15-23811447-C-T | MKRN3 | c.518C>T | p.S173L | Missense | 1/1 | - |
| 19-13007785-C-T | GCDH | c.914C>T | p.S305L | Missense | 9/12 | - |
| 1-150307464-C-T | PRPF3 | c.787C>T | p.R263C | Missense | 7/16 | - |
| 21-22656658-G-A | NCAM2 | c.275G>A | p.R92H | Missense | 3/18 | - |
| 5-180419923-C-T | BTNL3 | c.160C>T | p.R54W | Missense | 2/8 | - |
| 3-184298565-C-T | EPHB3 | c.2437C>T | p.R813W | Missense | 13/16 | - |
| 2-29917797-G-A | ALK | c.871C>T | p.R291C | Missense | 3/29 | - |
| 20-1961118-G-A | PDYN | c.616C>T | p.R206C | Missense | 4/4 | - |
| 20-31022245-C-A | ASXL1 | c.1730C>A | p.S577* | Nonsense | 13/13 | - |
| 19-40151153-G-A | LGALS16 | c.422G>A | p.R141Q | Missense | 4/4 | - |
| 12-113496244-C-T | DTX1 | c.247C>T | p.R83C | Missense | 2/10 | - |
| 3-193036847-G-A | ATP13A5 | c.1966C>T | p.R656C | Missense | 17/30 | - |
| 3-47888040-G-A | DHX30 | c.1478G>A | p.R493H | Missense | 11/22 | - |
| 17-3853989-G-A | ATP2A3 | c.542C>T | p.T181M | Missense | 6/21 | - |
| 6-36930828-C-T | PI16 | c.710C>T | p.A237V | Missense | 5/7 | - |
| 10-394598-C-T | DIP2C | c.3214G>A | p.V1072I | Missense | 26/37 | - |
| 7-3991520-C-T | SDK1 | c.1118C>T | p.P373L | Missense | 7/45 | - |
| 11-85988118-C-T | EED | c.1063C>T | p.R355* | Nonsense | 10/12 | - |
| 12-1963138-G-A | CACNA2D4 | c.2225C>T | p.A742V | Missense | 23/38 | - |
| 12-43860531-C-A | ADAMTS20 | c.1291G>T | p.A431S | Missense | 9/39 | - |
| X-17819079-C-T | RAI2 | c.1052G>A | p.R351Q | Missense | 2/2 | - |
| 14-99640672-G-A | BCL11B | c.2501C>T | p.A834V | Missense | 4/4 | - |
| 6-102247631-C-T | GRIK2 | c.1060C>T | p.R354C | Missense | 8/17 | - |
| 14-99641824-G-A | BCL11B | c.1349C>T | p.T450M | Missense | 4/4 | - |
| 5-156734848-T-G | CYFIP2 | c.875T>G | p.L292R | Missense | 9/31 | - |
| 7-48068434-G-T | SUN3 | c.102C>A | p.D34E | Missense | 1/10 | - |
| 3-47103828-G-A | SETD2 | c.6118C>T | p.R2040* | Nonsense | 14/21 | - |
| 21-33371178-C-T | HUNK | c.1826C>T | p.S609L | Missense | 11/11 | - |
| 4-83905493-T-C | LIN54 | c.505A>G | p.T169A | Missense | 2/13 | - |
| 17-42337808-C-T | SLC4A1 | c.449G>A | p.R150Q | Missense | 6/20 | - |
| 4-83905481-A-G | LIN54 | c.517T>C | p.S173P | Missense | 2/13 | - |
| 2-228882373-C-T | SPHKAP | c.3197G>A | p.R1066Q | Missense | 7/12 | - |
| 17-27086608-C-G | FAM222B | c.369G>C | p.L123F | Missense | 3/3 | - |
| 7-151962157-G-A | KMT2C | c.1150C>T | p.Q384* | Nonsense | 8/59 | - |
| 20-61940020-G-A | COL20A1 | c.902G>A | p.R301H | Missense | 8/36 | - |
| 15-59191881-C-A | SLTM | c.845G>T | p.G282V | Missense | 7/21 | - |
| 4-83905751-T-A | LIN54 | c.247A>T | p.T83S | Missense | 2/13 | - |
| 17-15968199-C-G | NCOR1 | c.5086G>C | p.A1696P | Missense | 34/46 | - |
| 2-55826054-T-C | PPP4R3B | c.419A>G | p.N140S | Missense | 4/17 | - |
| 18-42532058-G-A | SETBP1 | c.2753G>A | p.R918Q | Missense | 4/6 | - |
| 1-154965223-G-A | FLAD1 | c.1589G>A | p.R530H | Missense | 6/7 | - |
| 14-74824922-C-T | VRTN | c.1436C>T | p.A479V | Missense | 2/2 | - |
| 10-81052045-G-A | ZMIZ1 | c.889G>A | p.A297T | Missense | 11/25 | - |
| 3-47163676-A-G | SETD2 | c.2450T>C | p.M817T | Missense | 3/21 | - |
| 3-183670921-C-T | ABCC5 | c.2620G>A | p.A874T | Missense | 18/30 | - |
| 11-78380300-C-T | TENM4 | c.7090G>A | p.G2364R | Missense | 32/34 | - |
| 17-63898394-T-C | CEP112 | c.2039A>G | p.N680S | Missense | 20/27 | - |
| 4-114262960-A-G | ANK2 | c.4010A>G | p.H1337R | Missense | 33/46 | - |
| 9-71668097-C-T | FXN | c.305C>T | p.T102M | Missense | 3/5 | - |
| 1-31532100-T-G | PUM1 | c.314A>C | p.N105T | Missense | 2/22 | - |
| 16-1551710-G-A | TELO2 | c.1408G>A | p.A470T | Missense | 11/21 | - |
| 1-43772828-G-A | TIE1 | c.656G>A | p.R219H | Missense | 5/23 | - |
| 9-103109470-T-G | TEX10 | c.399A>C | p.Q133H | Missense | 3/15 | - |
| 9-103109478-C-T | TEX10 | c.391G>A | p.A131T | Missense | 3/15 | - |
| 9-103109540-T-C | TEX10 | c.329A>G | p.K110R | Missense | 3/15 | - |
| 14-31598378-C-G | HECTD1 | c.4199G>C | p.G1400A | Missense | 25/43 | - |
| 9-103109056-T-A | TEX10 | c.813A>T | p.E271D | Missense | 3/15 | - |
| 9-103109099-T-G | TEX10 | c.770A>C | p.N257T | Missense | 3/15 | - |
| 9-103109217-G-C | TEX10 | c.652C>G | p.L218V | Missense | 3/15 | - |
| 1-209811909-C-T | LAMB3 | c.268G>A | p.G90S | Missense | 4/23 | - |
| 21-41725557-G-A | DSCAM | c.769C>T | p.R257C | Missense | 5/33 | - |
| 20-50408000-G-A | SALL4 | c.1022C>T | p.S341L | Missense | 2/4 | - |
| 22-32445949-G-A | SLC5A1 | c.155G>A | p.R52H | Missense | 2/15 | - |
| 10-28884740-G-A | WAC | c.689G>A | p.R230K | Missense | 7/14 | - |
| 7-100842081-G-A | MOGAT3 | c.319C>T | p.R107W | Missense | 4/7 | - |
| 10-1175178-C-T | WDR37 | c.1379C>T | p.S460L | Missense | 14/14 | - |
| 16-30536482-C-T | ZNF768 | c.979G>A | p.A327T | Missense | 2/2 | - |
| X-13645154-C-T | EGFL6 | c.1310C>T | p.P437L | Missense | 11/12 | - |
| 6-86324623-A-T | SYNCRIP | c.1723T>A | p.S575T | Missense | 11/11 | - |
| 18-60242635-C-G | ZCCHC2 | c.3321C>G | p.F1107L | Missense | 13/14 | - |
| 5-154336741-A-G | MRPL22 | c.308A>G | p.N103S | Missense | 5/7 | - |
| 9-116151792-G-A | ALAD | c.727C>T | p.R243W | Missense | 10/12 | - |
| 9-134027192-A-G | NUP214 | c.2347A>G | p.R783G | Missense | 17/36 | - |
| 11-6816225-G-A | OR6A2 | c.715C>T | p.R239C | Missense | 2/2 | - |
| 2-191231580-A-G | INPP1 | c.425A>G | p.N142S | Missense | 5/7 | - |
| 2-61632946-C-T | USP34 | c.449G>A | p.S150N | Missense | 3/80 | - |
| 10-105218156-G-A | CALHM1 | c.353C>T | p.T118M | Missense | 1/2 | - |
| 7-7571214-C-T | COL28A1 | c.446G>A | p.R149H | Missense | 3/35 | - |
| 1-241675407-C-T | FH | c.415G>A | p.V139M | Missense | 4/10 | - |
| 5-140871095-C-T | PCDHGC5 | c.2288C>T | p.T763M | Missense | 1/4 | - |
| 15-28356943-G-A | HERC2 | c.14471C>T | p.S4824L | Missense | 93/93 | - |
| 20-2297771-G-A | TGM3 | c.727G>A | p.G243S | Missense | 6/13 | - |
| 7-82578874-C-T | PCLO | c.11030G>A | p.R3677H | Missense | 6/25 | - |
| 18-54285275-C-T | TXNL1 | c.452G>A | p.R151Q | Missense | 4/8 | - |
| 1-209880365-C-T | HSD11B1 | c.409C>T | p.R137C | Missense | 4/6 | - |
| 17-77043743-G-A | C1QTNF1 | c.419G>A | p.R140Q | Missense | 4/4 | - |
| 22-50906107-C-A | SBF1 | c.292G>T | p.V98L | Missense | 4/41 | - |
| 6-111493979-G-A | SLC16A10 | c.425G>A | p.R142Q | Missense | 2/6 | - |
| 19-17948746-TGCA-T | JAK3 | c.1693_1695delTGC | p.C565del | InFrameDeletion | 12/24 | - |
| 3-49405876-T-C | RHOA | c.262A>G | p.S88G | Missense | 3/5 | - |
| 14-35222853-C-T | BAZ1A | c.4532G>A | p.R1511H | Missense | 27/27 | - |
| 10-125651090-G-T | CPXM2 | c.86C>A | p.A29D | Missense | 1/14 | - |
| 12-111330883-G-A | CCDC63 | c.1078G>A | p.E360K | Missense | 9/12 | - |
| 15-42054434-A-G | MGA | c.7618A>G | p.I2540V | Missense | 22/24 | - |
| 18-50994324-G-A | DCC | c.3680G>A | p.R1227H | Missense | 25/29 | - |
| 20-35563514-G-A | SAMHD1 | c.427C>T | p.R143C | Missense | 4/16 | - |
| 22-42262948-GGCA-G | SREBF2 | c.221_223delGCA | p.S74del | InFrameDeletion | 2/19 | - |
| 17-29559194-C-T | NF1 | c.3301C>T | p.Q1101* | Nonsense | 25/58 | - |
| 20-31022245-C-G | ASXL1 | c.1730C>G | p.S577* | Nonsense | 13/13 | - |
| 9-139391014-G-A | NOTCH1 | c.7177C>T | p.Q2393* | Nonsense | 34/34 | - |
| 3-52696208-C-T | PBRM1 | c.469G>A | p.A157T | Missense | 5/30 | - |
| 1-1737949-T-G | GNB1 | c.232A>C | p.K78Q | Missense | 6/12 | - |
| 2-20212184-C-T | MATN3 | c.209G>A | p.R70H | Missense | 1/8 | - |
| 22-21140296-C-T | SERPIND1 | c.1168C>T | p.R390* | Nonsense | 4/5 | - |
| 11-108122702-C-A | ATM | c.1746C>A | p.F582L | Missense | 11/63 | - |
| 11-108122702-C-G | ATM | c.1746C>G | p.F582L | Missense | 11/63 | - |
| 1-26316020-G-A | PAFAH2 | c.163C>T | p.R55C | Missense | 3/11 | - |
| 16-1370207-G-A | UBE2I | c.256G>A | p.V86M | Missense | 5/7 | - |
| 10-105727546-GAGA-G | SLK | c.55_57delAAG | p.K19del | InFrameDeletion | 1/19 | - |
| 17-10428899-G-A | MYH2 | c.4406C>T | p.T1469M | Missense | 32/40 | - |
| X-70352766-G-A | MED12 | c.4487G>A | p.R1496H | Missense | 32/45 | - |
| 16-3779105-C-T | CREBBP | c.5943G>A | p.M1981I | Missense | 31/31 | - |
| 12-13724864-C-T | GRIN2B | c.2045G>A | p.R682H | Missense | 11/14 | - |
| 1-35227273-G-A | GJB4 | c.418G>A | p.A140T | Missense | 2/2 | - |
| 3-195517390-G-A | MUC4 | c.1061C>T | p.S354F | Missense | 2/25 | - |
| X-70343001-C-A | MED12 | c.1542C>A | p.C514* | Nonsense | 11/45 | - |
| 3-136287678-G-A | STAG1 | c.323C>T | p.S108L | Missense | 5/34 | - |
| 6-165715615-G-A | C6orf118 | c.196C>T | p.P66S | Missense | 2/9 | - |
| 7-138978057-A-C | UBN2 | c.3749A>C | p.N1250T | Missense | 16/18 | - |
| 20-46279900-GCAA-G | NCOA3 | c.3826_3828delCAA | p.Q1276del | InFrameDeletion | 20/23 | - |