Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
3-195635432-G-A | TNK2 | c.-95C>T | - | 5_prime_UTR_variant | 1/15 | - |
22-39428676-G-A | APOBEC3D | c.*355G>A | - | 3-UTRSNV | 7/7 | - |
17-44248499-G-C | KANSL1 | c.1011C>G | p.Ser337Ser | Synonymous | 2/15 | - |
20-4763438-G-T | RASSF2 | c.*1481C>A | - | 3-UTRSNV | 12/12 | - |
16-69335948-G-C | SNTB2 | c.*1121G>C | - | 3-UTRSNV | 7/7 | - |
15-52433397-C-G | GNB5 | c.441G>C | p.Lys147Asn | Missense | 5/11 | - |
12-96672743-G-A | CDK17 | c.*1277C>T | - | 3-UTRSNV | 17/17 | - |
12-96672743-G-C | CDK17 | c.*1277C>G | - | 3-UTRSNV | 17/17 | - |
4-78830434-G-C | MRPL1 | c.685G>C | p.Asp229His | Missense | 7/9 | - |
4-78830434-G-A | MRPL1 | c.685G>A | p.Asp229Asn | Missense | 7/9 | - |
X-103435618-T-C | FAM199X | c.*1159T>C | - | 3-UTRSNV | 6/6 | - |
8-42885355-C-A | HOOK3 | c.*11714C>A | - | 3-UTRSNV | 22/22 | - |
12-113537773-C-T | RASAL1 | c.2376G>A | p.Gln792Gln | Synonymous | 22/22 | - |
9-140084376-G-T | SSNA1 | c.*10G>T | - | 3-UTRSNV | 3/3 | - |
8-98286953-G-A | TSPYL5 | c.*1866C>T | - | 3-UTRSNV | 1/1 | - |
12-67663208-C-G | CAND1 | c.1-290C>G | - | 5-UTRSNV | 1/15 | - |
12-67663208-C-T | CAND1 | c.1-290C>T | - | 5-UTRSNV | 1/15 | - |
2-223386557-A-G | SGPP2 | c.450A>G | p.Val150Val | Synonymous | 3/5 | - |
19-49426022-T-C | NUCB1 | c.*341T>C | - | 3-UTRSNV | 13/13 | - |
17-29161503-A-G | ATAD5 | c.404A>G | p.Glu135Gly | Missense | 2/23 | - |
1-157768000-G-C | FCRL1 | c.1065C>G | p.Thr355Thr | Synonymous | 8/11 | - |
5-67594324-A-G | PIK3R1 | c.*895A>G | - | 3-UTRSNV | 10/10 | - |
20-2846052-T-C | PTPRA | c.-129+89T>C | - | intron_variant | - | 5/27 |
5-66462069-A-G | MAST4 | c.7062A>G | p.Thr2354Thr | Synonymous | 29/29 | - |
5-43175103-C-T | ZNF131 | c.1638C>T | p.Ser546Ser | Synonymous | 8/8 | - |
8-22900701-G-A | TNFRSF10B | c.200C>T | p.Ala67Val | Missense | 2/10 | - |
8-22900701-G-T | TNFRSF10B | c.200C>A | p.Ala67Glu | Missense | 2/10 | - |
5-33461355-G-A | TARS | c.1506G>A | p.Pro502Pro | Synonymous | 13/19 | - |
12-56556911-G-C | SMARCC2 | c.*562C>G | - | 3-UTRSNV | 30/30 | - |
11-118925935-G-C | HYOU1 | c.381C>G | p.Phe127Leu | Missense | 5/26 | - |
11-118925935-G-A | HYOU1 | c.381C>T | p.Phe127Phe | Synonymous | 5/26 | - |
9-95782667-C-T | FGD3 | c.1455C>T | p.Phe485Phe | Synonymous | 13/18 | - |
3-15080696-G-C | NR2C2 | c.1635G>C | p.Gln545His | Missense | 14/15 | - |
6-96034612-G-A | MANEA | c.297G>A | p.Leu99Leu | Synonymous | 2/5 | - |
3-30733044-T-A | TGFBR2 | c.1732T>A | p.Ser578Thr | Missense | 8/8 | - |
9-124546143-G-T | DAB2IP | c.*319G>T | - | 3-UTRSNV | 17/17 | - |
1-65899320-T-G | LEPR | c.-21+8259T>G | - | intron_variant | - | 2/19 |
13-77575396-G-A | CLN5 | c.*292G>A | - | 3-UTRSNV | 4/4 | - |
5-114952011-T-G | TMED7-TICAM2 | c.566+4A>C | - | IntronicSNV | - | 3/3 |
19-54378218-T-C | MYADM | c.*466T>C | - | 3-UTRSNV | 3/3 | - |
3-40573744-A-G | ZNF621 | c.483A>G | p.Arg161Arg | Synonymous | 5/5 | - |
7-29960462-G-A | SCRN1 | c.*3111C>T | - | 3-UTRSNV | 8/8 | - |
1-20238860-C-G | OTUD3 | c.*4621C>G | - | 3-UTRSNV | 8/8 | - |
1-79110518-A-G | IFI44L | c.*3024A>G | - | 3-UTRSNV | 9/9 | - |
12-67699536-G-A | CAND1 | c.2088G>A | p.Glu696Glu | Synonymous | 10/15 | - |
16-67683449-A-G | CARMIL2 | c.1846A>G | p.Ile616Val | Missense | 20/38 | - |
8-1952490-G-A | KBTBD11 | c.*1260G>A | - | 3-UTRSNV | 2/2 | - |
16-53341803-A-T | CHD9 | c.6991A>T | p.Thr2331Ser | Missense | 33/39 | - |
15-74005600-C-G | CD276 | c.*303C>G | - | 3-UTRSNV | 8/8 | - |
17-73261868-G-A | MRPS7 | c.593G>A | p.Arg198Gln | Missense | 5/5 | - |
6-53133008-G-A | ELOVL5 | c.*917C>T | - | 3-UTRSNV | 8/8 | - |
8-8642448-T-C | MFHAS1 | c.*1084A>G | - | 3-UTRSNV | 3/3 | - |
19-4442336-C-G | CHAF1A | c.2768C>G | p.Ala923Gly | Missense | 14/15 | - |
8-103219629-T-C | RRM2B | c.*732A>G | - | 3-UTRSNV | 9/9 | - |
7-16823117-T-G | TSPAN13 | c.*1T>G | - | 3-UTRSNV | 6/6 | - |
5-10655315-G-A | ANKRD33B | c.*5090G>A | - | 3-UTRSNV | 4/4 | - |
8-26515138-C-T | DPYSL2 | c.*1916C>T | - | 3-UTRSNV | 14/14 | - |
19-17430757-G-A | DDA1 | c.*292G>A | - | 3-UTRSNV | 5/5 | - |
19-18284651-G-T | IFI30 | c.1-1G>T | - | 5-UTRSNV | 1/7 | - |
5-140895377-C-T | DIAPH1 | c.*1041G>A | - | 3-UTRSNV | 28/28 | - |
12-4923049-T-C | KCNA6 | c.*2252T>C | - | 3-UTRSNV | 1/2 | - |
17-73885805-C-T | TRIM65 | c.*1055G>A | - | 3-UTRSNV | 6/6 | - |
15-83481880-A-G | WHAMM | c.635A>G | p.Asn212Ser | Missense | 2/10 | - |
11-418179-A-C | ANO9 | c.*192T>G | - | 3-UTRSNV | 23/23 | - |
17-55079471-T-C | SCPEP1 | c.1225T>C | p.Leu409Leu | Synonymous | 12/13 | - |
13-25486911-G-T | CENPJ | c.253C>A | p.Pro85Thr | Missense | 2/17 | - |
13-25486911-G-C | CENPJ | c.253C>G | p.Pro85Ala | Missense | 2/17 | - |
16-8877591-T-A | ABAT | c.*2304T>A | - | 3-UTRSNV | 16/16 | - |
16-8889467-C-T | TMEM186 | c.*342G>A | - | 3-UTRSNV | 2/2 | - |
21-44189172-A-G | PDE9A | c.1317A>G | p.Ala439Ala | Synonymous | 16/19 | - |
21-44189172-A-C | PDE9A | c.1317A>C | p.Ala439Ala | Synonymous | 16/19 | - |
21-44189172-A-T | PDE9A | c.1317A>T | p.Ala439Ala | Synonymous | 16/19 | - |
3-107525060-A-T | BBX | c.*756A>T | - | 3-UTRSNV | 17/17 | - |
7-29962586-G-A | SCRN1 | c.*987C>T | - | 3-UTRSNV | 8/8 | - |
2-109401259-C-T | RANBP2 | c.*902C>T | - | 3-UTRSNV | 29/29 | - |
11-60150714-G-A | MS4A7 | c.100G>A | p.Glu34Lys | Missense | 2/7 | - |
12-21654469-T-G | RECQL | c.-411A>C | - | 5_prime_UTR_variant | 1/15 | - |
3-47894286-T-C | MAP4 | c.*236A>G | - | 3-UTRSNV | 19/19 | - |
4-185637699-A-G | CENPU | c.470T>C | p.Ile157Thr | Missense | 6/13 | - |
19-1555551-T-C | MEX3D | c.*11A>G | - | 3-UTRSNV | 2/2 | - |
19-4445073-A-G | UBXN6 | c.*422T>C | - | 3-UTRSNV | 11/11 | - |
16-67409180-G-A | LRRC36 | c.1525G>A | p.Gly509Ser | Missense | 10/14 | - |
X-147010320-G-A | FMR1 | c.414G>A | p.Arg138Arg | Synonymous | 5/17 | - |
3-194362620-T-C | LSG1 | c.*177A>G | - | 3-UTRSNV | 14/14 | - |
17-40466438-T-G | STAT3 | c.*1325A>C | - | 3-UTRSNV | 24/24 | - |
3-194362620-T-G | LSG1 | c.*177A>C | - | 3-UTRSNV | 14/14 | - |
22-22275524-C-T | PPM1F | c.*1941G>A | - | 3-UTRSNV | 8/8 | - |
5-162909716-C-T | HMMR | c.1451C>T | p.Ala484Val | Missense | 13/18 | - |
5-162909716-C-A | HMMR | c.1451C>A | p.Ala484Glu | Missense | 13/18 | - |
6-33739508-G-A | LEMD2 | c.*897C>T | - | 3-UTRSNV | 9/9 | - |
7-142565385-G-C | EPHB6 | c.894G>C | p.Pro298Pro | Synonymous | 11/19 | - |
7-142565385-G-A | EPHB6 | c.894G>A | p.Pro298Pro | Synonymous | 11/19 | - |
16-929711-C-G | LMF1 | c.756G>C | p.Ala252Ala | Synonymous | 6/11 | - |
9-132902151-C-G | GPR107 | c.*4751C>G | - | 3-UTRSNV | 20/20 | - |
5-54572163-T-A | DHX29 | c.2358A>T | p.Lys786Asn | Missense | 14/27 | - |
16-11876203-T-C | ZC3H7A | c.8A>G | p.Asn3Ser | Missense | 2/23 | - |
16-11876203-T-A | ZC3H7A | c.8A>T | p.Asn3Ile | Missense | 2/23 | - |
1-169349823-G-C | BLZF1 | c.773G>C | p.Arg258Pro | Missense | 5/8 | - |
1-169349823-G-A | BLZF1 | c.773G>A | p.Arg258His | Missense | 5/8 | - |
3-44489880-T-C | ZNF445 | c.1283A>G | p.Tyr428Cys | Missense | 8/8 | - |
20-7967980-G-C | TMX4 | c.570C>G | p.Val190Val | Synonymous | 6/8 | - |
20-7967980-G-A | TMX4 | c.570C>T | p.Val190Val | Synonymous | 6/8 | - |
16-3590263-C-T | NLRC3 | c.*1562G>A | - | 3_prime_UTR_variant | 21/21 | - |
22-23631801-T-C | BCR | c.2700T>C | p.Asn900Asn | Synonymous | 13/23 | - |
17-62492582-C-A | POLG2 | c.505G>T | p.Ala169Ser | Missense | 1/8 | - |
18-57000469-T-A | LMAN1 | c.1228A>T | p.Met410Leu | Missense | 11/13 | - |
X-71684495-C-T | HDAC8 | c.824G>A | p.Cys275Tyr | Missense | 8/11 | - |
3-197401952-T-C | RUBCN | c.2721A>G | p.Ser907Ser | Synonymous | 21/21 | - |
12-101761715-G-T | UTP20 | c.6345G>T | p.Val2115Val | Synonymous | 48/62 | - |
19-32974913-A-G | DPY19L3 | c.*1767A>G | - | 3-UTRSNV | 19/19 | - |
12-101761715-G-A | UTP20 | c.6345G>A | p.Val2115Val | Synonymous | 48/62 | - |
15-86123231-C-T | AKAP13 | c.1932C>T | p.Ser644Ser | Synonymous | 7/37 | - |
16-27373972-T-C | IL4R | c.1299T>C | p.Leu433Leu | Synonymous | 11/11 | - |
9-135158690-C-G | SETX | c.6507G>C | p.Gly2169Gly | Synonymous | 19/26 | - |
9-135158690-C-T | SETX | c.6507G>A | p.Gly2169Gly | Synonymous | 19/26 | - |
5-138270542-T-C | CTNNA1 | c.*764T>C | - | 3-UTRSNV | 18/18 | - |
5-138270542-T-A | CTNNA1 | c.*764T>A | - | 3-UTRSNV | 18/18 | - |
12-1897284-A-T | ADIPOR2 | c.*2046A>T | - | 3-UTRSNV | 8/8 | - |
1-171671463-T-G | VAMP4 | c.*2183A>C | - | 3-UTRSNV | 8/8 | - |
22-23524069-C-T | BCR | c.922C>T | p.Arg308Cys | Missense | 1/23 | - |
10-16859400-G-A | RSU1 | c.-90C>T | - | 5_prime_UTR_variant | 1/9 | - |
5-126112903-G-T | LMNB1 | c.1-298G>T | - | 5-UTRSNV | 1/11 | - |
5-112349677-T-A | DCP2 | c.*496T>A | - | 3-UTRSNV | 11/11 | - |
5-150562408-T-A | CCDC69 | c.*590A>T | - | 3-UTRSNV | 9/9 | - |
10-81072828-C-T | ZMIZ1 | c.*322C>T | - | 3-UTRSNV | 25/25 | - |
10-81072828-C-G | ZMIZ1 | c.*322C>G | - | 3-UTRSNV | 25/25 | - |
2-85786074-G-A | GGCX | c.339C>T | p.Asp113Asp | Synonymous | 3/15 | - |
12-96259951-G-A | SNRPF | c.*102G>A | - | 3-UTRSNV | 4/4 | - |
7-37990917-A-G | EPDR1 | c.*919A>G | - | 3-UTRSNV | 3/3 | - |
12-46577235-G-C | SLC38A1 | c.*5518C>G | - | 3-UTRSNV | 17/17 | - |
14-103194552-A-G | RCOR1 | c.*1709A>G | - | 3-UTRSNV | 12/12 | - |
1-179972337-A-C | CEP350 | c.1047A>C | p.Arg349Arg | Synonymous | 7/38 | - |
1-234744480-G-A | IRF2BP2 | c.761C>T | p.Ala254Val | Missense | 1/2 | - |
1-234744480-G-C | IRF2BP2 | c.761C>G | p.Ala254Gly | Missense | 1/2 | - |
7-5567677-C-T | ACTB | c.942G>A | p.Gln314Gln | Synonymous | 5/6 | - |
17-62496670-A-C | DDX5 | c.1438T>G | p.Ser480Ala | Missense | 12/13 | - |
7-99690747-T-C | MCM7 | c.1440A>G | p.Arg480Arg | Synonymous | 14/14 | - |
10-45941499-C-A | ALOX5 | c.*364C>A | - | 3-UTRSNV | 14/14 | - |
7-99690747-T-A | MCM7 | c.1440A>T | p.Arg480Ser | Missense | 14/14 | - |
7-6063674-G-C | EIF2AK1 | c.*630C>G | - | 3-UTRSNV | 15/15 | - |
8-8654898-C-T | MFHAS1 | c.3102G>A | p.Pro1034Pro | Synonymous | 2/3 | - |
17-57290383-G-C | SMG8 | c.2199G>C | p.Arg733Ser | Missense | 3/4 | - |
17-57290383-G-A | SMG8 | c.2199G>A | p.Arg733Arg | Synonymous | 3/4 | - |
1-244583585-T-C | ADSS | c.677A>G | p.Lys226Arg | Missense | 8/13 | - |
15-50888568-A-G | TRPM7 | c.3174T>C | p.Asn1058Asn | Synonymous | 23/39 | - |
22-18209920-C-T | BCL2L13 | c.1078C>T | p.Pro360Ser | Missense | 7/7 | - |
2-101869588-G-A | CNOT11 | c.162G>A | p.Pro54Pro | Synonymous | 1/7 | - |
22-24129240-C-T | SMARCB1 | c.1-117C>T | - | 5-UTRSNV | 1/9 | - |
1-55207918-C-T | TTC4 | c.*732C>T | - | 3-UTRSNV | 10/10 | - |
17-73826120-C-T | UNC13D | c.2943G>A | p.Glu981Glu | Synonymous | 30/32 | - |
3-122290800-C-G | DTX3L | c.*206C>G | - | 3-UTRSNV | 5/5 | - |
8-110283256-T-C | NUDCD1 | c.1277A>G | p.Asn426Ser | Missense | 8/10 | - |
1-220872429-G-A | C1orf115 | c.*2356G>A | - | 3-UTRSNV | 2/2 | - |
12-113736097-G-C | TPCN1 | c.*2216G>C | - | 3-UTRSNV | 28/28 | - |
12-113736097-G-T | TPCN1 | c.*2216G>T | - | 3-UTRSNV | 28/28 | - |
7-29962934-C-T | SCRN1 | c.*639G>A | - | 3-UTRSNV | 8/8 | - |
12-25205721-T-C | LRMP | c.-554T>C | - | 5_prime_UTR_variant | 1/21 | - |
11-27518920-A-G | LIN7C | c.*1276T>C | - | 3-UTRSNV | 5/5 | - |
7-99689615-G-C | COPS6 | c.*203G>C | - | 3-UTRSNV | 10/10 | - |
7-99689615-G-A | COPS6 | c.*203G>A | - | 3-UTRSNV | 10/10 | - |
22-36059842-G-A | APOL6 | c.*4199G>A | - | 3-UTRSNV | 3/3 | - |
1-175128444-C-A | KIAA0040 | c.*1406G>T | - | 3-UTRSNV | 4/4 | - |
5-141020765-T-C | FCHSD1 | c.*300A>G | - | 3-UTRSNV | 20/20 | - |
20-40162062-G-C | CHD6 | c.181C>G | p.Leu61Val | Missense | 3/37 | - |
19-20044886-T-C | ZNF93 | c.1122T>C | p.Cys374Cys | Synonymous | 4/4 | - |
16-3590263-C-A | NLRC3 | c.*1562G>T | - | 3_prime_UTR_variant | 21/21 | - |
7-5347746-C-T | TNRC18 | c.8898G>A | p.Val2966Val | Synonymous | 30/30 | - |
7-5347746-C-A | TNRC18 | c.8898G>T | p.Val2966Val | Synonymous | 30/30 | - |
19-4442336-C-T | CHAF1A | c.2768C>T | p.Ala923Val | Missense | 14/15 | - |
16-11772230-C-A | SNN | c.*2048C>A | - | 3-UTRSNV | 2/2 | - |
5-145539996-T-G | LARS | c.648A>C | p.Ser216Ser | Synonymous | 7/32 | - |
16-57398817-C-G | CCL22 | c.*1317C>G | - | 3-UTRSNV | 3/3 | - |
16-57398817-C-T | CCL22 | c.*1317C>T | - | 3-UTRSNV | 3/3 | - |
20-56225969-C-T | PMEPA1 | c.*1140G>A | - | 3-UTRSNV | 4/4 | - |
10-114205074-C-A | ZDHHC6 | c.121G>T | p.Asp41Tyr | Missense | 2/11 | - |
10-114205074-C-T | ZDHHC6 | c.121G>A | p.Asp41Asn | Missense | 2/11 | - |
20-4763904-G-C | RASSF2 | c.*1015C>G | - | 3-UTRSNV | 12/12 | - |
8-110283353-T-G | NUDCD1 | c.1180A>C | p.Asn394His | Missense | 8/10 | - |
2-63272724-T-C | EHBP1 | c.*89T>C | - | 3-UTRSNV | 25/25 | - |
9-123522115-A-C | FBXW2 | c.*4722T>G | - | 3-UTRSNV | 8/8 | - |
17-46000406-T-C | SP2 | c.1138T>C | p.Ser380Pro | Missense | 4/7 | - |
16-678020-G-A | RAB40C | c.*398G>A | - | 3-UTRSNV | 6/6 | - |
16-678020-G-C | RAB40C | c.*398G>C | - | 3-UTRSNV | 6/6 | - |
19-13041442-G-A | FARSA | c.269C>T | p.Ala90Val | Missense | 2/13 | - |
16-8941778-G-C | PMM2 | c.*96G>C | - | 3-UTRSNV | 8/8 | - |
17-61780793-G-A | STRADA | c.*166C>T | - | 3-UTRSNV | 11/11 | - |
18-3457607-C-T | TGIF1 | c.875C>T | p.Pro292Leu | Missense | 3/3 | - |
4-951947-T-C | TMEM175 | c.1178T>C | p.Met393Thr | Missense | 11/11 | - |
3-50369546-C-A | RASSF1 | c.1-57G>T | - | 5-UTRSNV | 2/5 | - |
11-82782875-T-C | RAB30 | c.-252A>G | - | 5_prime_UTR_variant | 1/6 | - |
17-76989062-C-G | CANT1 | c.*570G>C | - | 3-UTRSNV | 4/4 | - |
3-53857676-C-T | CHDH | c.360G>A | p.Leu120Leu | Synonymous | 3/9 | - |
5-68616225-G-A | CCDC125 | c.143C>T | p.Ser48Phe | Missense | 2/12 | - |
11-61633182-C-A | FADS2 | c.*21C>A | - | 3-UTRSNV | 12/12 | - |
21-45648328-C-T | ICOSLG | c.*589G>A | - | 3-UTRSNV | 7/7 | - |
11-61633182-C-G | FADS2 | c.*21C>G | - | 3-UTRSNV | 12/12 | - |
20-4763311-G-A | RASSF2 | c.*1608C>T | - | 3-UTRSNV | 12/12 | - |
3-33905566-C-T | PDCD6IP | c.2204C>T | p.Ser735Leu | Missense | 16/18 | - |
4-1729953-G-A | TACC3 | c.824G>A | p.Cys275Tyr | Missense | 4/16 | - |
5-184336-G-T | PLEKHG4B | c.*1898G>T | - | 3-UTRSNV | 20/20 | - |
4-102946392-G-A | BANK1 | c.1320G>A | p.Arg440Arg | Synonymous | 9/17 | - |
6-52363759-A-G | TRAM2 | c.*4236T>C | - | 3-UTRSNV | 11/11 | - |
14-103193299-T-C | RCOR1 | c.*456T>C | - | 3-UTRSNV | 12/12 | - |
20-418267-G-C | TBC1D20 | c.*963C>G | - | 3-UTRSNV | 8/8 | - |
1-204402500-C-T | PIK3C2B | c.3897G>A | p.Val1299Val | Synonymous | 27/34 | - |
3-10321734-C-T | TATDN2 | c.*868C>T | - | 3_prime_UTR_variant | 8/8 | - |
11-76836439-A-G | CAPN5 | c.*1523A>G | - | 3-UTRSNV | 13/13 | - |
22-30093259-C-G | NF2 | c.*2468C>G | - | 3-UTRSNV | 16/16 | - |
1-181058313-G-A | IER5 | c.275G>A | p.Arg92His | Missense | 1/1 | - |
1-181058313-G-C | IER5 | c.275G>C | p.Arg92Pro | Missense | 1/1 | - |
19-12760200-G-T | MAN2B1 | c.2310C>A | p.Pro770Pro | Synonymous | 19/24 | - |
2-208689182-G-T | PLEKHM3 | c.*3861C>A | - | 3-UTRSNV | 8/8 | - |
8-17924739-A-T | ASAH1 | c.420T>A | p.Asp140Glu | Missense | 5/14 | - |
16-1877913-C-T | FAHD1 | c.636+47C>T | - | IntronicSNV | - | 1/2 |
8-17924739-A-G | ASAH1 | c.420T>C | p.Asp140Asp | Synonymous | 5/14 | - |
1-85742155-G-T | BCL10 | c.1-120C>A | - | 5-UTRSNV | 1/3 | - |
6-31475055-C-T | MICB | c.870C>T | p.His290His | Synonymous | 4/6 | - |
12-77245749-AA-GT | ZDHHC17 | c.*984_*985delinsGT | - | 3-UTRBlockSubstitution | 17/17 | - |
16-87864475-G-C | SLC7A5 | c.*2101C>G | - | 3-UTRSNV | 10/10 | - |
9-92003679-C-T | SEMA4D | c.979G>A | p.Ala327Thr | Missense | 13/18 | - |
3-107880919-T-C | IFT57 | c.*405A>G | - | 3-UTRSNV | 11/11 | - |
3-107880919-T-A | IFT57 | c.*405A>T | - | 3-UTRSNV | 11/11 | - |
2-239147171-C-G | HES6 | c.*297G>C | - | 3-UTRSNV | 4/4 | - |
16-47117654-G-A | NETO2 | c.1056C>T | p.Gly352Gly | Synonymous | 9/9 | - |
7-30403189-T-C | ZNRF2 | c.*1139T>C | - | IntronicSNV | 5/5 | - |
1-89447810-G-A | KYAT3 | c.99+6125C>T | - | IntronicSNV | - | 2/13 |
17-33592323-C-G | SLFN5 | c.2092C>G | p.Pro698Ala | Missense | 5/5 | - |
17-40263458-T-C | DHX58 | c.226A>G | p.Thr76Ala | Missense | 4/14 | - |
1-47717189-A-G | STIL | c.3483T>C | p.Pro1161Pro | Synonymous | 17/17 | - |
1-47717189-A-C | STIL | c.3483T>G | p.Pro1161Pro | Synonymous | 17/17 | - |
22-30422708-C-T | MTMR3 | c.*918C>T | - | 3-UTRSNV | 20/20 | - |
3-49762779-C-G | IP6K1 | c.*1776G>C | - | 3-UTRSNV | 6/6 | - |
1-203711955-G-C | ATP2B4 | c.*3256G>C | - | 3-UTRSNV | 22/22 | - |
9-96440051-C-G | PHF2 | c.*93C>G | - | 3-UTRSNV | 22/22 | - |
19-1854557-A-G | KLF16 | c.660T>C | p.Pro220Pro | Synonymous | 2/2 | - |
18-66342978-A-T | TMX3 | c.*1192T>A | - | 3-UTRSNV | 16/16 | - |
16-1877698-C-G | FAHD1 | c.468C>G | p.Leu156Leu | Synonymous | 1/3 | - |
12-1893077-C-A | ADIPOR2 | c.870C>A | p.Ile290Ile | Synonymous | 7/8 | - |
7-91503228-C-T | MTERF1 | c.880G>A | p.Ala294Thr | Missense | 3/3 | - |
1-150448707-T-C | RPRD2 | c.*2897T>C | - | 3-UTRSNV | 11/11 | - |
X-71715093-G-C | HDAC8 | c.463C>G | p.Leu155Val | Missense | 5/11 | - |
19-811320-C-T | PTBP1 | c.*494C>T | - | 3-UTRSNV | 15/15 | - |
19-811320-C-G | PTBP1 | c.*494C>G | - | 3-UTRSNV | 15/15 | - |
18-12308273-G-A | TUBB6 | c.1-19G>A | - | 5-UTRSNV | 1/4 | - |
3-49762779-C-A | IP6K1 | c.*1776G>T | - | 3-UTRSNV | 6/6 | - |
6-31930351-A-G | SKIV2L | c.1200A>G | p.Thr400Thr | Synonymous | 11/28 | - |
4-48863189-T-C | OCIAD1 | c.*410T>C | - | 3-UTRSNV | 9/9 | - |
6-31631907-G-A | GPANK1 | c.349C>T | p.Leu117Leu | Synonymous | 2/3 | - |
5-68616225-G-T | CCDC125 | c.143C>A | p.Ser48Tyr | Missense | 2/12 | - |
5-68616225-G-C | CCDC125 | c.143C>G | p.Ser48Cys | Missense | 2/12 | - |
6-75994151-A-G | TMEM30A | c.204T>C | p.Ile68Ile | Synonymous | 1/7 | - |
1-171670823-T-A | VAMP4 | c.*2823A>T | - | 3-UTRSNV | 8/8 | - |
4-3174851-A-C | HTT | c.4159A>C | p.Thr1387Pro | Missense | 31/67 | - |
1-203711457-G-A | ATP2B4 | c.*2758G>A | - | 3-UTRSNV | 22/22 | - |
11-61633182-C-T | FADS2 | c.*21C>T | - | 3-UTRSNV | 12/12 | - |
3-63996262-C-T | PSMD6 | c.*82G>A | - | 3-UTRSNV | 8/8 | - |
17-40175902-G-A | NKIRAS2 | c.567G>A | p.Leu189Leu | Synonymous | 4/4 | - |
17-40175902-G-C | NKIRAS2 | c.567G>C | p.Leu189Phe | Missense | 4/4 | - |
16-10574796-C-G | ATF7IP2 | c.1610C>G | p.Thr537Ser | Missense | 11/12 | - |
6-26393058-C-T | BTN2A2 | c.1435C>T | p.Pro479Ser | Missense | 8/8 | - |
16-10574796-C-T | ATF7IP2 | c.1610C>T | p.Thr537Ile | Missense | 11/12 | - |
16-15130351-G-C | PDXDC1 | c.*219G>C | - | 3-UTRSNV | 23/23 | - |
2-234749258-T-C | HJURP | c.2168A>G | p.Glu723Gly | Missense | 8/9 | - |
4-185616167-A-C | CENPU | c.*275T>G | - | 3-UTRSNV | 13/13 | - |
11-65387378-T-G | PCNX3 | c.1983T>G | p.Ala661Ala | Synonymous | 8/35 | - |
11-65387378-T-A | PCNX3 | c.1983T>A | p.Ala661Ala | Synonymous | 8/35 | - |
3-42599091-G-T | SEC22C | c.624C>A | p.His208Gln | Missense | 5/7 | - |
2-1637648-T-C | PXDN | c.*328A>G | - | 3-UTRSNV | 23/23 | - |
19-52795158-C-T | ZNF766 | c.*707C>T | - | 3-UTRSNV | 4/4 | - |
19-4929473-A-G | UHRF1 | c.393A>G | p.Glu131Glu | Synonymous | 3/18 | - |
15-100252892-A-G | MEF2A | c.1410A>G | p.Pro470Pro | Synonymous | 10/10 | - |
2-1652660-G-C | PXDN | c.2892C>G | p.Asn964Lys | Missense | 17/23 | - |
2-1652660-G-T | PXDN | c.2892C>A | p.Asn964Lys | Missense | 17/23 | - |
19-4929473-A-C | UHRF1 | c.393A>C | p.Glu131Asp | Missense | 3/18 | - |
7-29962427-A-C | SCRN1 | c.*1146T>G | - | 3-UTRSNV | 8/8 | - |
19-880066-G-A | MED16 | c.1224C>T | p.Ser408Ser | Synonymous | 8/16 | - |
12-113534966-T-C | DTX1 | c.*222T>C | - | 3-UTRSNV | 9/9 | - |
16-28915527-G-A | ATP2A1 | c.*64G>A | - | 3_prime_UTR_variant | 23/23 | - |
8-26363027-C-T | PNMA2 | c.*2150G>A | - | 3-UTRSNV | 3/3 | - |
16-28915527-G-T | ATP2A1 | c.*64G>T | - | 3_prime_UTR_variant | 23/23 | - |
1-192781172-C-T | RGS2 | c.*446C>T | - | 3-UTRSNV | 5/5 | - |
11-123596703-A-T | ZNF202 | c.*2T>A | - | 3-UTRSNV | 9/9 | - |
1-165865478-G-A | UCK2 | c.408G>A | p.Gly136Gly | Synonymous | 4/7 | - |
1-157543746-C-T | FCRL4 | c.*1568G>A | - | 3-UTRSNV | 12/12 | - |
14-77254143-T-G | ANGEL1 | c.*1428A>C | - | 3-UTRSNV | 10/10 | - |
16-847743-C-T | CHTF18 | c.2783C>T | p.Pro928Leu | Missense | 21/22 | - |
2-46987544-G-A | SOCS5 | c.*264G>A | - | 3-UTRSNV | 2/2 | - |
13-21355756-T-C | XPO4 | c.*2105A>G | - | 3-UTRSNV | 23/23 | - |
14-21820669-A-C | SUPT16H | c.*163T>G | - | 3-UTRSNV | 26/26 | - |
17-46926615-G-A | CALCOCO2 | c.419G>A | p.Gly140Glu | Missense | 5/13 | - |
17-46926615-G-C | CALCOCO2 | c.419G>C | p.Gly140Ala | Missense | 5/13 | - |
18-12308793-G-A | TUBB6 | c.165G>A | p.Ser55Ser | Synonymous | 2/4 | - |
9-79009236-G-C | RFK | c.1-149C>G | - | 5-UTRSNV | 1/4 | - |
8-66525548-T-A | ARMC1 | c.396A>T | p.Gln132His | Missense | 4/7 | - |
15-52414235-T-C | GNB5 | c.*719A>G | - | 3-UTRSNV | 11/11 | - |
16-88874632-C-G | CDT1 | c.1587C>G | p.Leu529Leu | Synonymous | 10/10 | - |
16-88874632-C-T | CDT1 | c.1587C>T | p.Leu529Leu | Synonymous | 10/10 | - |
3-52727736-A-G | GNL3 | c.1413A>G | p.Glu471Glu | Synonymous | 13/15 | - |
16-21289626-C-A | CRYM | c.1-54G>T | - | 5-UTRSNV | 3/10 | - |
11-77823791-C-A | ALG8 | c.803G>T | p.Arg268Leu | Missense | 8/13 | - |
9-36674842-C-T | MELK | c.1686C>T | p.Asn562Asn | Synonymous | 17/18 | - |
2-97030247-T-C | NCAPH | c.1616T>C | p.Val539Ala | Missense | 13/18 | - |
12-26648092-C-T | ITPR2 | c.5175G>A | p.Gln1725Gln | Synonymous | 38/57 | - |
3-172224078-T-C | TNFSF10 | c.*596A>G | - | 3-UTRSNV | 3/3 | - |
1-220156704-T-C | EPRS | c.3127A>G | p.Ile1043Val | Missense | 22/32 | - |
11-124956852-G-A | SLC37A2 | c.*725G>A | - | IntronicSNV | 19/19 | - |
16-11018623-G-A | CIITA | c.*911G>A | - | 3_prime_UTR_variant | 20/20 | - |
19-49426488-T-A | NUCB1 | c.*807T>A | - | 3-UTRSNV | 13/13 | - |
22-38029295-G-A | GGA1 | c.*577G>A | - | 3-UTRSNV | 17/17 | - |
19-18288796-C-T | IFI30 | c.*75C>T | - | 3-UTRSNV | 7/7 | - |
8-42877610-T-C | HOOK3 | c.*3969T>C | - | 3-UTRSNV | 22/22 | - |
13-30781186-T-A | KATNAL1 | c.*1491A>T | - | 3-UTRSNV | 11/11 | - |
7-139636010-G-T | TBXAS1 | c.357G>T | p.Lys119Asn | Missense | 5/13 | - |
7-139636010-G-A | TBXAS1 | c.357G>A | p.Lys119Lys | Synonymous | 5/13 | - |
7-139636010-G-C | TBXAS1 | c.357G>C | p.Lys119Asn | Missense | 5/13 | - |
4-41956313-A-G | TMEM33 | c.*97A>G | - | 3-UTRSNV | 7/7 | - |
10-116193716-T-C | ABLIM1 | c.*2303A>G | - | 3-UTRSNV | 23/23 | - |
16-88870967-T-C | CDT1 | c.243T>C | p.Ser81Ser | Synonymous | 2/10 | - |
8-56708701-T-C | TGS1 | c.1532T>C | p.Ile511Thr | Missense | 7/13 | - |
7-29963115-A-C | SCRN1 | c.*458T>G | - | 3-UTRSNV | 8/8 | - |
11-77823791-C-T | ALG8 | c.803G>A | p.Arg268Gln | Missense | 8/13 | - |
3-183207072-A-G | KLHL6 | c.*2643T>C | - | 3-UTRSNV | 7/7 | - |
8-125563769-A-G | MTSS1 | c.*1464T>C | - | 3-UTRSNV | 14/14 | - |
6-7610357-G-A | SNRNP48 | c.*1251G>A | - | 3-UTRSNV | 9/9 | - |
7-29962427-A-G | SCRN1 | c.*1146T>C | - | 3-UTRSNV | 8/8 | - |
19-12739045-C-A | ZNF791 | c.702C>A | p.His234Gln | Missense | 4/4 | - |
20-418267-G-T | TBC1D20 | c.*963C>A | - | 3-UTRSNV | 8/8 | - |
2-1636053-A-G | PXDN | c.*1923T>C | - | 3-UTRSNV | 23/23 | - |
9-2828742-C-A | PUM3 | c.889G>T | p.Val297Leu | Missense | 9/18 | - |
3-10044457-C-T | EMC3 | c.-242+8250G>A | - | intron_variant | - | 1/8 |
2-239358852-A-T | ASB1 | c.*3700A>T | - | 3-UTRSNV | 5/5 | - |
22-50656428-G-A | TUBGCP6 | c.5287C>T | p.Arg1763Trp | Missense | 24/25 | - |
3-88102304-T-C | CGGBP1 | c.*2319A>G | - | 3-UTRSNV | 4/4 | - |
11-121460846-C-G | SORL1 | c.4176C>G | p.Asn1392Lys | Missense | 30/48 | - |
11-27519718-G-A | LIN7C | c.*478C>T | - | 3-UTRSNV | 5/5 | - |
11-123596703-A-C | ZNF202 | c.*2T>G | - | 3-UTRSNV | 9/9 | - |
12-121138361-C-T | MLEC | c.*4013C>T | - | 3-UTRSNV | 5/5 | - |
17-76988785-G-C | CANT1 | c.*847C>G | - | 3-UTRSNV | 4/4 | - |
14-105225979-C-G | SIVA1 | c.*157C>G | - | 3-UTRSNV | 4/4 | - |
16-88880236-T-C | GALNS | c.*611A>G | - | 3-UTRSNV | 14/14 | - |
3-61975382-T-C | PTPRG | c.274T>C | p.Tyr92His | Missense | 3/30 | - |
3-196461390-C-T | PIGX | c.*617C>T | - | 3-UTRSNV | 6/6 | - |
8-87439926-C-T | WWP1 | c.1212C>T | p.Thr404Thr | Synonymous | 11/25 | - |
17-79174181-C-G | CEP131 | c.854G>C | p.Arg285Pro | Missense | 8/26 | - |
3-179051472-A-C | ZNF639 | c.720A>C | p.Glu240Asp | Missense | 7/7 | - |
3-179051472-A-G | ZNF639 | c.720A>G | p.Glu240Glu | Synonymous | 7/7 | - |
1-111983509-C-T | WDR77 | c.*343G>A | - | 3-UTRSNV | 10/10 | - |
17-34432664-T-A | CCL4 | c.238T>A | p.Ser80Thr | Missense | 3/3 | - |
11-76836350-T-C | CAPN5 | c.*1434T>C | - | 3-UTRSNV | 13/13 | - |
11-61908440-T-A | INCENP | c.1517T>A | p.Met506Lys | Missense | 10/18 | - |
4-68484094-G-A | UBA6 | c.*621C>T | - | 3-UTRSNV | 33/33 | - |
20-4763864-G-A | RASSF2 | c.*1055C>T | - | 3-UTRSNV | 12/12 | - |
1-79108884-G-A | IFI44L | c.*1390G>A | - | 3-UTRSNV | 9/9 | - |
16-23400054-T-C | COG7 | c.*187A>G | - | 3-UTRSNV | 17/17 | - |
20-2739583-T-C | EBF4 | c.1755T>C | p.Phe585Phe | Synonymous | 17/18 | - |
16-70395387-C-T | DDX19A | c.360C>T | p.Asn120Asn | Synonymous | 5/12 | - |
3-51970296-T-G | RRP9 | c.712A>C | p.Thr238Pro | Missense | 8/15 | - |
2-33623720-A-G | LTBP1 | c.*108A>G | - | 3-UTRSNV | 34/34 | - |
5-179264694-G-A | SQSTM1 | c.*1101G>A | - | 3-UTRSNV | 9/9 | - |
15-52433397-C-T | GNB5 | c.441G>A | p.Lys147Lys | Synonymous | 5/11 | - |
11-204680-G-A | BET1L | c.*790C>T | - | 3-UTRSNV | 3/3 | - |
3-15476011-C-T | EAF1 | c.492C>T | p.Pro164Pro | Synonymous | 4/6 | - |
14-74206658-G-A | ELMSAN1 | c.54C>T | p.Phe18Phe | Synonymous | 2/12 | - |
19-18124184-C-T | ARRDC2 | c.*409C>T | - | 3-UTRSNV | 8/8 | - |
16-88904086-A-G | GALNS | c.510T>C | p.Tyr170Tyr | Synonymous | 5/14 | - |
3-10321734-C-A | TATDN2 | c.*868C>A | - | 3_prime_UTR_variant | 8/8 | - |
6-29523676-C-G | UBD | c.479G>C | p.Cys160Ser | Missense | 2/2 | - |
5-140699057-G-C | TAF7 | c.555C>G | p.Ala185Ala | Synonymous | 1/1 | - |
11-61908440-T-C | INCENP | c.1517T>C | p.Met506Thr | Missense | 10/18 | - |
18-60227833-T-C | ZCCHC2 | c.1506T>C | p.His502His | Synonymous | 8/14 | - |
17-76354126-C-G | SOCS3 | c.*373G>C | - | 3-UTRSNV | 2/2 | - |
2-33809471-C-G | FAM98A | c.*372G>C | - | 3-UTRSNV | 8/8 | - |
4-437909-T-C | ZNF721 | c.347A>G | p.Lys116Arg | Missense | 3/3 | - |
9-96441750-C-T | PHF2 | c.*1792C>T | - | 3-UTRSNV | 22/22 | - |
10-13239651-A-G | MCM10 | c.2006A>G | p.Lys669Arg | Missense | 15/20 | - |
17-79174181-C-T | CEP131 | c.854G>A | p.Arg285Gln | Missense | 8/26 | - |
3-15476011-C-A | EAF1 | c.492C>A | p.Pro164Pro | Synonymous | 4/6 | - |
3-15476011-C-G | EAF1 | c.492C>G | p.Pro164Pro | Synonymous | 4/6 | - |
5-150562408-T-C | CCDC69 | c.*590A>G | - | 3-UTRSNV | 9/9 | - |
9-37861794-C-T | DCAF10 | c.*289C>T | - | 3-UTRSNV | 7/7 | - |
20-54978835-G-A | CSTF1 | c.*52G>A | - | 3-UTRSNV | 6/6 | - |
20-4835415-C-T | SLC23A2 | c.*2203G>A | - | 3-UTRSNV | 17/17 | - |
6-15663118-T-C | DTNBP1 | c.1-18A>G | - | 5-UTRSNV | 1/10 | - |
4-185548951-A-G | CASP3 | c.*1475T>C | - | 3-UTRSNV | 8/8 | - |
20-50803459-C-T | ZFP64 | c.198G>A | p.Thr66Thr | Synonymous | 2/6 | - |
2-208477479-A-G | METTL21A | c.*291T>C | - | 3-UTRSNV | 4/4 | - |
9-136271792-G-T | REXO4 | c.*285C>A | - | 3-UTRSNV | 6/6 | - |
2-55861645-C-T | PNPT1 | c.*1727G>A | - | 3-UTRSNV | 28/28 | - |
2-65298839-A-G | CEP68 | c.609A>G | p.Thr203Thr | Synonymous | 3/7 | - |
X-71681920-TC-AT | HDAC8 | c.938_939delGAinsAT | p.Arg313His | Missense | 9/11 | - |
1-15896199-G-A | DNAJC16 | c.*1527G>A | - | 3-UTRSNV | 15/15 | - |
7-29961884-C-G | SCRN1 | c.*1689G>C | - | 3-UTRSNV | 8/8 | - |
20-47244450-G-A | PREX1 | c.4818C>T | p.His1606His | Synonymous | 38/40 | - |
20-61834092-G-A | YTHDF1 | c.1200C>T | p.Asp400Asp | Synonymous | 4/5 | - |
1-53516999-A-C | SCP2 | c.*623A>C | - | 3-UTRSNV | 16/16 | - |
1-55533811-T-C | USP24 | c.*907A>G | - | 3-UTRSNV | 68/68 | - |
5-14498727-G-T | TRIO | c.8310G>T | p.Ser2770Ser | Synonymous | 53/57 | - |
12-69127245-C-T | NUP107 | c.2115C>T | p.His705His | Synonymous | 24/28 | - |
21-38528987-G-A | TTC3 | c.2771G>A | p.Arg924His | Missense | 28/46 | - |
2-241533345-C-T | CAPN10 | c.711C>T | p.Phe237Phe | Synonymous | 5/12 | - |
9-136339181-C-T | SLC2A6 | c.957G>A | p.Gly319Gly | Synonymous | 7/10 | - |
20-56223607-G-A | PMEPA1 | c.*3502C>T | - | 3-UTRSNV | 4/4 | - |
X-71684558-G-A | HDAC8 | c.761C>T | p.Ala254Val | Missense | 8/11 | - |
7-6063674-G-A | EIF2AK1 | c.*630C>T | - | 3-UTRSNV | 15/15 | - |
19-1819125-T-C | REXO1 | c.2656A>G | p.Ser886Gly | Missense | 8/16 | - |
3-182638524-G-A | ATP11B | c.*2632G>A | - | 3-UTRSNV | 30/30 | - |
5-66448622-C-T | MAST4 | c.3453C>T | p.Tyr1151Tyr | Synonymous | 25/29 | - |
5-73992881-A-G | HEXB | c.619A>G | p.Ile207Val | Missense | 5/14 | - |
6-26414373-G-C | BTN3A1 | c.*453G>C | - | 3-UTRSNV | 10/10 | - |
11-10786175-C-T | CTR9 | c.1494C>T | p.Thr498Thr | Synonymous | 12/25 | - |
16-8948433-C-T | CARHSP1 | c.*588G>A | - | 3-UTRSNV | 4/4 | - |
17-57281461-A-C | PRR11 | c.*2469A>C | - | 3-UTRSNV | 10/10 | - |
17-57281461-A-G | PRR11 | c.*2469A>G | - | 3-UTRSNV | 10/10 | - |
17-57281310-G-T | PRR11 | c.*2318G>T | - | 3-UTRSNV | 10/10 | - |
21-33373930-A-G | HUNK | c.*2433A>G | - | 3-UTRSNV | 11/11 | - |
9-136277482-T-C | REXO4 | c.395-1289A>G | - | IntronicSNV | - | 2/5 |
1-21904529-C-T | ALPL | c.*388C>T | - | 3-UTRSNV | 12/12 | - |
12-5155663-A-G | KCNA5 | c.*508A>G | - | 3-UTRSNV | 1/1 | - |
19-8578035-T-C | ZNF414 | c.194A>G | p.Gln65Arg | Missense | 2/6 | - |
19-54610170-C-A | NDUFA3 | c.216C>A | p.Asp72Glu | Missense | 4/4 | - |
4-178256913-C-A | NEIL3 | c.350C>A | p.Pro117His | Missense | 3/10 | - |
4-178256913-C-G | NEIL3 | c.350C>G | p.Pro117Arg | Missense | 3/10 | - |
5-76343999-T-A | AGGF1 | c.1215T>A | p.Ile405Ile | Synonymous | 7/14 | - |
1-45205598-T-C | KIF2C | c.1-7T>C | - | 5-UTRSNV | 1/21 | - |
11-10786175-C-G | CTR9 | c.1494C>G | p.Thr498Thr | Synonymous | 12/25 | - |
12-121201054-A-T | SPPL3 | c.*1748T>A | - | 3-UTRSNV | 11/11 | - |
6-144183376-T-C | LTV1 | c.1059T>C | p.Ile353Ile | Synonymous | 8/11 | - |
7-21552405-T-C | SP4 | c.*1518T>C | - | 3-UTRSNV | 6/6 | - |
9-37865055-T-C | DCAF10 | c.*3550T>C | - | 3-UTRSNV | 7/7 | - |
X-19379148-G-A | PDHA1 | c.*1377G>A | - | 3-UTRSNV | 11/11 | - |
3-10028690-G-C | EMC3 | c.1-345C>G | - | IntergenicSNV | - | 1/8 |
1-89446508-C-G | KYAT3 | c.99+7427G>C | - | IntronicSNV | - | 2/13 |
1-89446508-C-T | KYAT3 | c.99+7427G>A | - | IntronicSNV | - | 2/13 |
2-1637201-C-T | PXDN | c.*775G>A | - | 3-UTRSNV | 23/23 | - |
2-112786357-G-A | MERTK | c.2916G>A | p.Ser972Ser | Synonymous | 19/19 | - |
8-117783914-A-C | UTP23 | c.583A>C | p.Lys195Gln | Missense | 3/3 | - |
12-112580071-C-T | TRAFD1 | c.822C>T | p.Gly274Gly | Synonymous | 6/12 | - |
19-41858876-C-T | TGFB1 | c.74G>A | p.Arg25Gln | Missense | 1/7 | - |
4-178256913-C-T | NEIL3 | c.350C>T | p.Pro117Leu | Missense | 3/10 | - |
1-97981395-T-C | DPYD | c.1627A>G | p.Ile543Val | Missense | 13/23 | - |
2-201846083-G-A | FAM126B | c.1503C>T | p.Gly501Gly | Synonymous | 12/12 | - |
6-143081035-A-G | HIVEP2 | c.6390T>C | p.Ser2130Ser | Synonymous | 9/10 | - |
6-21231882-A-T | CDKAL1 | c.*612A>T | - | 3-UTRSNV | 16/16 | - |
1-158153943-C-T | CD1D | c.*3C>T | - | 3-UTRSNV | 7/7 | - |
16-31418869-A-G | ITGAD | c.738A>G | p.Arg246Arg | Synonymous | 8/30 | - |
17-40465616-T-A | STAT3 | c.*2147A>T | - | 3-UTRSNV | 24/24 | - |
5-54572163-T-C | DHX29 | c.2358A>G | p.Lys786Lys | Synonymous | 14/27 | - |
11-88027393-A-C | CTSC | c.1173T>G | p.Thr391Thr | Synonymous | 7/7 | - |
X-71787757-C-T | HDAC8 | c.419G>A | p.Gly140Glu | Missense | 4/11 | - |
17-40465616-T-C | STAT3 | c.*2147A>G | - | 3-UTRSNV | 24/24 | - |
4-156268065-C-T | MAP9 | c.*870G>A | - | 3-UTRSNV | 14/14 | - |
12-40740686-A-G | LRRK2 | c.6241A>G | p.Asn2081Asp | Missense | 42/51 | - |
8-120847078-C-T | DSCC1 | c.*55G>A | - | 3-UTRSNV | 9/9 | - |
11-43941777-C-T | ALKBH3 | c.*217C>T | - | 3-UTRSNV | 10/10 | - |
2-55861645-C-A | PNPT1 | c.*1727G>T | - | 3-UTRSNV | 28/28 | - |
16-57060340-T-C | NLRC5 | c.1485T>C | p.Thr495Thr | Synonymous | 5/48 | - |
14-93406789-G-A | ITPK1 | c.*1117C>T | - | 3-UTRSNV | 11/11 | - |
8-120847078-C-G | DSCC1 | c.*55G>C | - | 3-UTRSNV | 9/9 | - |
19-54378099-G-A | MYADM | c.*347G>A | - | 3-UTRSNV | 3/3 | - |
17-71244702-G-T | CPSF4L | c.498-27C>A | - | IntronicSNV | - | 5/5 |
19-54378099-G-T | MYADM | c.*347G>T | - | 3-UTRSNV | 3/3 | - |
12-53873844-G-C | PCBP2 | c.*618G>C | - | 3-UTRSNV | 15/15 | - |
1-211846876-A-G | NEK2 | c.504T>C | p.His168His | Synonymous | 3/8 | - |
9-130552179-G-C | CDK9 | c.*357G>C | - | 3-UTRSNV | 7/7 | - |
7-66107971-C-G | KCTD7 | c.*3752C>G | - | 3-UTRSNV | 4/4 | - |
3-40574734-C-T | ZNF621 | c.*153C>T | - | 3-UTRSNV | 5/5 | - |
8-56723557-T-G | TGS1 | c.2261T>G | p.Phe754Cys | Missense | 11/13 | - |
8-56723557-T-A | TGS1 | c.2261T>A | p.Phe754Tyr | Missense | 11/13 | - |
1-171673272-C-G | VAMP4 | c.*374G>C | - | 3-UTRSNV | 8/8 | - |
22-51015838-T-C | CPT1B | c.196A>G | p.Ile66Val | Missense | 3/20 | - |
4-68484199-A-G | UBA6 | c.*516T>C | - | 3-UTRSNV | 33/33 | - |
5-139574050-G-A | CYSTM1 | c.1-1G>A | - | 5-UTRSNV | 2/3 | - |
17-3801080-C-T | P2RX1 | c.*28G>A | - | 3-UTRSNV | 12/12 | - |
16-8877832-C-T | ABAT | c.*2545C>T | - | 3-UTRSNV | 16/16 | - |
17-80206871-G-A | CSNK1D | c.1077C>T | p.Pro359Pro | Synonymous | 8/10 | - |
3-148890181-G-A | HPS3 | c.*172G>A | - | 3-UTRSNV | 17/17 | - |
9-79009236-G-A | RFK | c.1-149C>T | - | 5-UTRSNV | 1/4 | - |
19-43013363-A-G | CEACAM1 | c.1479T>C | p.Tyr493Tyr | Synonymous | 9/9 | - |
20-47246077-C-G | PREX1 | c.4676G>C | p.Ser1559Thr | Missense | 37/40 | - |
1-85742155-G-C | BCL10 | c.1-120C>G | - | 5-UTRSNV | 1/3 | - |
7-142565385-G-T | EPHB6 | c.894G>T | p.Pro298Pro | Synonymous | 11/19 | - |
12-121159611-G-A | UNC119B | c.*1776G>A | - | 3-UTRSNV | 5/5 | - |
9-91926124-A-G | CKS2 | c.1-84A>G | - | 5-UTRSNV | 1/3 | - |
11-6636106-T-A | TPP1 | c.1542A>T | p.Gly514Gly | Synonymous | 12/13 | - |
11-134019112-G-A | JAM3 | c.*36G>A | - | 3-UTRSNV | 9/9 | - |
1-245027349-C-T | HNRNPU | c.261G>A | p.Glu87Glu | Synonymous | 1/14 | - |
1-47717189-A-T | STIL | c.3483T>A | p.Pro1161Pro | Synonymous | 17/17 | - |
1-24180962-T-C | FUCA1 | c.857A>G | p.Gln286Arg | Missense | 5/8 | - |
2-73835677-G-T | ALMS1 | c.12441G>T | - | synonymous_variant | 22/23 | - |
9-136216882-G-C | RPL7A | c.390G>C | p.Thr130Thr | Synonymous | 4/8 | - |
19-9272890-A-C | ZNF317 | c.*781A>C | - | 3-UTRSNV | 7/7 | - |
1-85742155-G-A | BCL10 | c.1-120C>T | - | 5-UTRSNV | 1/3 | - |
5-6600150-G-C | NSUN2 | c.2193C>G | p.Asp731Glu | Missense | 19/19 | - |
1-89447810-G-C | KYAT3 | c.99+6125C>G | - | IntronicSNV | - | 2/13 |
20-4763299-C-T | RASSF2 | c.*1620G>A | - | 3-UTRSNV | 12/12 | - |
17-60758273-G-A | MRC2 | c.2586G>A | p.Ser862Ser | Synonymous | 17/30 | - |
14-105239801-CCG-TGT | AKT1 | c.817_819delCGGinsTGT | p.Arg273Cys | Missense | 9/14 | - |
13-46559703-T-C | ZC3H13 | c.1449A>G | p.Arg483Arg | Synonymous | 10/17 | - |
17-80085648-C-G | CCDC57 | c.2483G>C | p.Gly828Ala | Missense | 16/17 | - |
2-37227797-C-G | HEATR5B | c.5477G>C | p.Gly1826Ala | Missense | 33/36 | - |
2-30863108-A-G | LCLAT1 | c.868A>G | p.Ile290Val | Missense | 7/7 | - |
22-38046695-C-A | SH3BP1 | c.1561C>A | p.Pro521Thr | Missense | 16/18 | - |
12-113532617-A-G | DTX1 | c.1251A>G | p.Arg417Arg | Synonymous | 6/9 | - |
2-242435042-C-G | STK25 | c.*35G>C | - | 3-UTRSNV | 12/12 | - |
9-136198556-C-A | SURF6 | c.*149G>T | - | 3-UTRSNV | 5/5 | - |
9-136198556-C-G | SURF6 | c.*149G>C | - | 3-UTRSNV | 5/5 | - |
19-41209477-C-T | COQ8B | c.768G>A | p.Ala256Ala | Synonymous | 9/15 | - |
12-123057792-A-G | KNTC1 | c.2243A>G | p.His748Arg | Missense | 26/64 | - |
1-56961756-A-G | PLPP3 | c.*467T>C | - | 3-UTRSNV | 6/6 | - |
19-4352959-A-G | MPND | c.597A>G | p.Ala199Ala | Synonymous | 4/12 | - |
7-26230289-C-A | HNRNPA2B1 | c.*1691G>T | - | 3_prime_UTR_variant | 11/11 | - |
16-19548290-G-A | CCP110 | c.1299G>A | p.Ala433Ala | Synonymous | 5/15 | - |
6-107475512-C-T | PDSS2 | c.*311G>A | - | 3-UTRSNV | 8/8 | - |
3-10143328-A-T | FANCD2 | c.*382A>T | - | 3-UTRSNV | 44/44 | - |
12-520976-A-G | CCDC77 | c.102A>G | p.Ala34Ala | Synonymous | 4/13 | - |
2-105977776-G-A | FHL2 | c.804C>T | p.Asp268Asp | Synonymous | 7/7 | - |
11-63677976-G-A | MARK2 | c.*1267G>A | - | 3-UTRSNV | 18/18 | - |
5-163266-C-T | PLEKHG4B | c.3079C>T | - | missense_variant | 13/20 | - |
5-163266-C-G | PLEKHG4B | c.3079C>G | - | missense_variant | 13/20 | - |
11-119179678-T-C | MCAM | c.*918A>G | - | 3-UTRSNV | 16/16 | - |
1-214814571-C-G | CENPF | c.2890C>G | p.Leu964Val | Missense | 12/20 | - |
10-14880395-C-T | HSPA14 | c.1-7C>T | - | 5-UTRSNV | 1/14 | - |
11-562219-C-G | RASSF7 | c.265C>G | p.Pro89Ala | Missense | 3/6 | - |
16-31422429-T-C | ITGAD | c.1389T>C | p.Ser463Ser | Synonymous | 13/30 | - |
9-140084753-A-G | SSNA1 | c.*387A>G | - | 3-UTRSNV | 3/3 | - |
2-238668783-A-G | LRRFIP1 | c.752A>G | p.Gln251Arg | Missense | 9/10 | - |
21-47532440-C-G | COL6A2 | c.663C>G | p.Pro221Pro | Synonymous | 3/28 | - |
19-4445156-A-G | UBXN6 | c.*339T>C | - | 3-UTRSNV | 11/11 | - |
20-56227514-T-C | PMEPA1 | c.459A>G | p.Ser153Ser | Synonymous | 4/4 | - |
5-141021096-G-A | FCHSD1 | c.2042C>T | p.Pro681Leu | Missense | 20/20 | - |
7-37988589-C-T | EPDR1 | c.417C>T | p.Ile139Ile | Synonymous | 2/3 | - |
7-37988589-C-G | EPDR1 | c.417C>G | p.Ile139Met | Missense | 2/3 | - |
19-804079-T-C | PTBP1 | c.159T>C | p.Ser53Ser | Synonymous | 4/15 | - |
9-136279935-C-T | REXO4 | c.244G>A | p.Gly82Arg | Missense | 2/6 | - |
X-48567295-A-G | SUV39H1 | c.*1334A>G | - | 3-UTRSNV | 6/6 | - |
5-163266-C-A | PLEKHG4B | c.3079C>A | - | missense_variant | 13/20 | - |
4-156289917-G-A | MAP9 | c.529C>T | p.Arg177Trp | Missense | 5/14 | - |
1-214814571-C-T | CENPF | c.2890C>T | p.Leu964Leu | Synonymous | 12/20 | - |
11-72549374-C-A | FCHSD2 | c.*462G>T | - | 3-UTRSNV | 20/20 | - |
13-20661118-G-A | ZMYM2 | c.*964G>A | - | 3-UTRSNV | 26/26 | - |
3-107880977-G-A | IFT57 | c.*347C>T | - | 3-UTRSNV | 11/11 | - |
2-208463660-A-G | CREB1 | c.*1878A>G | - | 3-UTRSNV | 9/9 | - |
1-205631058-G-C | SLC45A3 | c.1155C>G | p.Thr385Thr | Synonymous | 4/5 | - |
9-2838470-C-T | PUM3 | c.38G>A | p.Ser13Asn | Missense | 2/18 | - |
1-10240094-C-T | UBE4B | c.*80C>T | - | 3-UTRSNV | 27/27 | - |
2-201437048-A-G | SGO2 | c.1979A>G | p.Asn660Ser | Missense | 7/9 | - |
11-27517929-G-C | LIN7C | c.*2267C>G | - | 3-UTRSNV | 5/5 | - |
2-5839686-A-T | SOX11 | c.*5507A>T | - | 3-UTRSNV | 1/1 | - |
21-47532440-C-T | COL6A2 | c.663C>T | p.Pro221Pro | Synonymous | 3/28 | - |
8-141263015-G-A | TRAPPC9 | c.2586C>T | p.Gly862Gly | Synonymous | 16/23 | - |
7-44808650-G-C | ZMIZ2 | c.*1428G>C | - | 3-UTRSNV | 19/19 | - |
7-44808650-G-A | ZMIZ2 | c.*1428G>A | - | 3-UTRSNV | 19/19 | - |
1-197070442-G-T | ASPM | c.7939C>A | p.Leu2647Ile | Missense | 18/28 | - |
4-178274694-T-G | NEIL3 | c.1272T>G | p.Val424Val | Synonymous | 8/10 | - |
22-45789642-A-C | SMC1B | c.1417T>G | p.Phe473Val | Missense | 9/25 | - |
16-684579-C-T | METTL26 | c.565G>A | p.Ala189Thr | Missense | 5/5 | - |
16-684579-C-G | METTL26 | c.565G>C | p.Ala189Pro | Missense | 5/5 | - |
8-56711713-A-G | TGS1 | c.1783A>G | p.Thr595Ala | Missense | 8/13 | - |
1-156536221-G-C | IQGAP3 | c.243C>G | p.Pro81Pro | Synonymous | 3/38 | - |
9-93658206-G-A | SYK | c.*324G>A | - | 3-UTRSNV | 13/13 | - |
12-133734113-C-T | ZNF10 | c.*559C>T | - | 3-UTRSNV | 5/5 | - |
6-26414179-T-C | BTN3A1 | c.*259T>C | - | 3-UTRSNV | 10/10 | - |
17-76354126-C-T | SOCS3 | c.*373G>A | - | 3-UTRSNV | 2/2 | - |
2-100210074-G-C | AFF3 | c.2049C>G | p.Ser683Ser | Synonymous | 14/24 | - |
16-840378-A-G | CHTF18 | c.731A>G | p.Lys244Arg | Missense | 6/22 | - |
17-7216540-G-A | GPS2 | c.795C>T | p.Phe265Phe | Synonymous | 9/11 | - |
17-7216540-G-C | GPS2 | c.795C>G | p.Phe265Leu | Missense | 9/11 | - |
X-76937963-G-T | ATRX | c.2785C>A | p.Gln929Lys | Missense | 9/35 | - |
X-69724094-G-T | DLG3 | c.*1975G>T | - | 3-UTRSNV | 19/19 | - |
7-29963082-G-A | SCRN1 | c.*491C>T | - | 3-UTRSNV | 8/8 | - |
15-102182183-A-G | TM2D3 | c.*499T>C | - | 3-UTRSNV | 6/6 | - |
X-69724094-G-A | DLG3 | c.*1975G>A | - | 3-UTRSNV | 19/19 | - |
5-145499996-C-T | LARS | c.3263G>A | p.Arg1088Lys | Missense | 31/32 | - |
2-238673302-T-A | LRRFIP1 | c.*519T>A | - | 3-UTRSNV | 10/10 | - |
5-145562143-G-C | LARS | c.1-87C>G | - | 5-UTRSNV | 1/32 | - |
1-235273194-T-C | TOMM20 | c.*2185A>G | - | 3-UTRSNV | 5/5 | - |
12-8671702-G-C | CLEC4D | c.330G>C | p.Arg110Ser | Missense | 4/6 | - |
1-16044401-G-A | PLEKHM2 | c.291G>A | p.Leu97Leu | Synonymous | 4/20 | - |
1-179041970-G-T | FAM20B | c.*691G>T | - | 3-UTRSNV | 8/8 | - |
12-12022467-G-T | ETV6 | c.573G>T | p.Arg191Arg | Synonymous | 5/8 | - |
3-4714841-G-A | ITPR1 | c.2181G>A | p.Ala727Ala | Synonymous | 20/58 | - |
2-64335394-A-G | PELI1 | c.51T>C | p.Tyr17Tyr | Synonymous | 2/7 | - |
1-203711955-G-T | ATP2B4 | c.*3256G>T | - | 3-UTRSNV | 22/22 | - |
4-41956251-G-A | TMEM33 | c.*35G>A | - | 3-UTRSNV | 7/7 | - |
19-18123965-C-T | ARRDC2 | c.*190C>T | - | 3-UTRSNV | 8/8 | - |
2-37111123-G-A | STRN | c.1138C>T | p.Pro380Ser | Missense | 9/18 | - |
5-145668298-C-T | RBM27 | c.*2705C>T | - | 3-UTRSNV | 21/21 | - |
19-4454083-C-T | UBXN6 | c.91G>A | p.Ala31Thr | Missense | 2/11 | - |
6-30037686-T-C | PPP1R11 | c.*603T>C | - | 3-UTRSNV | 3/3 | - |
12-8671702-G-T | CLEC4D | c.330G>T | p.Arg110Ser | Missense | 4/6 | - |
1-20238466-A-G | OTUD3 | c.*4227A>G | - | 3-UTRSNV | 8/8 | - |
2-30865175-C-G | LCLAT1 | c.*1690C>G | - | 3-UTRSNV | 7/7 | - |
17-73886888-A-G | TRIM65 | c.1526T>C | p.Leu509Pro | Missense | 6/6 | - |
19-6755155-T-C | SH2D3A | c.668A>G | p.Asp223Gly | Missense | 5/10 | - |
12-12022467-G-A | ETV6 | c.573G>A | p.Arg191Arg | Synonymous | 5/8 | - |
16-87866138-G-C | SLC7A5 | c.*438C>G | - | 3-UTRSNV | 10/10 | - |
4-27025497-A-G | STIM2 | c.*879A>G | - | 3-UTRSNV | 12/12 | - |
16-3721773-G-C | TRAP1 | c.1185C>G | p.Asp395Glu | Missense | 11/18 | - |
4-1718870-G-C | TMEM129 | c.*267C>G | - | 3-UTRSNV | 3/3 | - |
22-19958494-G-C | ARVCF | c.*257C>G | - | IntronicSNV | 20/20 | - |
22-19958494-G-A | ARVCF | c.*257C>T | - | IntronicSNV | 20/20 | - |
19-4454083-C-G | UBXN6 | c.91G>C | p.Ala31Pro | Missense | 2/11 | - |
2-1637531-A-G | PXDN | c.*445T>C | - | 3-UTRSNV | 23/23 | - |
20-60776473-G-C | MTG2 | c.*340G>C | - | 3-UTRSNV | 7/7 | - |
14-103195966-A-G | RCOR1 | c.*3123A>G | - | 3-UTRSNV | 12/12 | - |
12-56435920-C-T | RPS26 | c.1-31C>T | - | 5-UTRSNV | 1/4 | - |
2-233201328-A-G | DIS3L2 | c.2646A>G | p.Ser882Ser | Synonymous | 21/21 | - |
20-16031257-G-A | MACROD2 | c.*736G>A | - | 3-UTRSNV | 17/17 | - |
3-56654703-T-C | CCDC66 | c.2658+774T>C | - | IntronicSNV | - | 17/17 |
2-27873326-C-G | GPN1 | c.*259C>G | - | 3-UTRSNV | 14/14 | - |
7-44424983-T-C | NUDCD3 | c.*627A>G | - | 3-UTRSNV | 6/6 | - |
13-21547984-C-T | LATS2 | c.*1025G>A | - | 3-UTRSNV | 8/8 | - |
12-72179691-T-G | RAB21 | c.*238T>G | - | 3-UTRSNV | 7/7 | - |
12-284930-C-A | IQSEC3 | c.*731C>A | - | 3-UTRSNV | 14/14 | - |
12-284930-C-T | IQSEC3 | c.*731C>T | - | 3-UTRSNV | 14/14 | - |
9-136198386-C-G | SURF6 | c.*319G>C | - | 3-UTRSNV | 5/5 | - |
5-72798845-A-G | BTF3 | c.288A>G | p.Thr96Thr | Synonymous | 4/6 | - |
16-929711-C-T | LMF1 | c.756G>A | p.Ala252Ala | Synonymous | 6/11 | - |
16-70194664-G-A | PDPR | c.*3882G>A | - | 3-UTRSNV | 19/19 | - |
8-26515138-C-G | DPYSL2 | c.*1916C>G | - | 3-UTRSNV | 14/14 | - |
9-72933774-A-T | SMC5 | c.2045A>T | p.His682Leu | Missense | 15/25 | - |
22-30200713-G-A | ASCC2 | c.1267C>T | p.Pro423Ser | Missense | 13/20 | - |
22-30200713-G-C | ASCC2 | c.1267C>G | p.Pro423Ala | Missense | 13/20 | - |
6-7611770-G-A | SNRNP48 | c.*2664G>A | - | 3-UTRSNV | 9/9 | - |
12-74934072-C-G | ATXN7L3B | c.*1886C>G | - | 3-UTRSNV | 1/1 | - |
21-33373123-C-T | HUNK | c.*1626C>T | - | 3-UTRSNV | 11/11 | - |
1-45218895-A-T | KIF2C | c.531A>T | p.Arg177Arg | Synonymous | 6/21 | - |
2-224621012-C-T | AP1S3 | c.*2420G>A | - | 3-UTRSNV | 5/5 | - |
11-35827958-A-T | TRIM44 | c.*23A>T | - | 3-UTRSNV | 5/5 | - |
11-35827958-A-G | TRIM44 | c.*23A>G | - | 3-UTRSNV | 5/5 | - |
17-33592323-C-T | SLFN5 | c.2092C>T | p.Pro698Ser | Missense | 5/5 | - |
17-33592323-C-A | SLFN5 | c.2092C>A | p.Pro698Thr | Missense | 5/5 | - |
1-100757176-T-G | RTCA | c.*116T>G | - | 3-UTRSNV | 12/12 | - |
19-5212482-G-C | PTPRS | c.4635C>G | p.Arg1545Arg | Synonymous | 31/38 | - |
19-5212482-G-A | PTPRS | c.4635C>T | p.Arg1545Arg | Synonymous | 31/38 | - |
20-18744383-T-C | DTD1 | c.*399T>C | - | 3_prime_UTR_variant | 6/6 | - |
2-73679956-C-A | ALMS1 | c.6305C>A | - | stop_gained | 8/23 | - |
10-5807521-T-C | GDI2 | c.*448A>G | - | 3-UTRSNV | 11/11 | - |
16-85722560-C-G | GINS2 | c.1-56G>C | - | 5-UTRSNV | 1/5 | - |
12-109937534-G-A | UBE3B | c.1037G>A | p.Arg346Gln | Missense | 12/28 | - |
12-109973273-T-C | UBE3B | c.*686T>C | - | 3-UTRSNV | 28/28 | - |
20-5086915-T-C | TMEM230 | c.330A>G | p.Ala110Ala | Synonymous | 4/5 | - |
5-133533307-G-T | PPP2CA | c.*156C>A | - | 3-UTRSNV | 7/7 | - |
22-38051355-G-A | SH3BP1 | c.1770G>A | p.Pro590Pro | Synonymous | 18/18 | - |
17-40673721-T-C | ATP6V0A1 | c.*583T>C | - | 3-UTRSNV | 21/21 | - |
10-45953767-A-G | MARCH8 | c.796T>C | p.Tyr266His | Missense | 7/7 | - |
1-156106185-T-G | LMNA | c.1338T>G | p.Asp446Glu | Missense | 7/12 | - |
1-156106185-T-A | LMNA | c.1338T>A | p.Asp446Glu | Missense | 7/12 | - |
1-156106185-T-C | LMNA | c.1338T>C | p.Asp446Asp | Synonymous | 7/12 | - |
16-1877913-C-A | FAHD1 | c.636+47C>A | - | IntronicSNV | - | 1/2 |
16-1877913-C-G | FAHD1 | c.636+47C>G | - | IntronicSNV | - | 1/2 |
22-40725853-A-G | TNRC6B | c.*6608A>G | - | 3-UTRSNV | 24/24 | - |
1-213167537-C-T | ANGEL2 | c.*846G>A | - | 3-UTRSNV | 9/9 | - |
6-31615514-T-C | BAG6 | c.642A>G | p.Thr214Thr | Synonymous | 7/25 | - |
5-183134-A-G | PLEKHG4B | c.*696A>G | - | 3-UTRSNV | 20/20 | - |
6-26446209-C-T | BTN3A3 | c.711C>T | p.Ile237Ile | Synonymous | 5/11 | - |
7-6624774-C-T | ZDHHC4 | c.624C>T | p.Val208Val | Synonymous | 7/8 | - |
8-26363819-C-T | PNMA2 | c.*1358G>A | - | 3-UTRSNV | 3/3 | - |
1-192781172-C-G | RGS2 | c.*446C>G | - | 3-UTRSNV | 5/5 | - |
2-231077676-G-A | SP110 | c.383C>T | p.Ala128Val | Missense | 4/19 | - |
12-67663208-C-A | CAND1 | c.1-290C>A | - | 5-UTRSNV | 1/15 | - |
1-150737220-A-G | CTSS | c.20T>C | p.Val7Ala | Missense | 2/8 | - |
7-47408443-C-G | TNS3 | c.1800G>C | p.Gln600His | Missense | 17/31 | - |
14-74205878-C-A | ELMSAN1 | c.834G>T | p.Pro278Pro | Synonymous | 2/12 | - |
7-47408443-C-A | TNS3 | c.1800G>T | p.Gln600His | Missense | 17/31 | - |
11-119179679-A-T | MCAM | c.*917T>A | - | 3-UTRSNV | 16/16 | - |
1-151110832-G-A | SEMA6C | c.507C>T | p.Cys169Cys | Synonymous | 8/19 | - |
8-103217686-T-C | RRM2B | c.*2675A>G | - | 3-UTRSNV | 9/9 | - |
16-71807232-C-A | AP1G1 | c.360G>T | p.Gly120Gly | Synonymous | 4/24 | - |
2-172650165-C-T | SLC25A12 | c.1418G>A | p.Arg473Gln | Missense | 14/18 | - |
18-47013579-G-T | C18orf32 | c.-190C>A | - | 5_prime_UTR_variant | 1/3 | - |
21-33373511-C-T | HUNK | c.*2014C>T | - | 3-UTRSNV | 11/11 | - |
4-952409-A-G | TMEM175 | c.*125A>G | - | 3-UTRSNV | 11/11 | - |
1-210849262-A-G | HHAT | c.*1541A>G | - | 3-UTRSNV | 12/12 | - |
18-47013579-G-A | C18orf32 | c.-190C>T | - | 5_prime_UTR_variant | 1/3 | - |
21-33373511-C-G | HUNK | c.*2014C>G | - | 3-UTRSNV | 11/11 | - |
1-33148455-G-A | RBBP4 | c.*3149G>A | - | 3-UTRSNV | 12/12 | - |
9-140079522-G-A | ANAPC2 | c.891C>T | p.Val297Val | Synonymous | 4/13 | - |
9-140079522-G-T | ANAPC2 | c.891C>A | p.Val297Val | Synonymous | 4/13 | - |
1-220253228-G-A | BPNT1 | c.1-40C>T | - | IntronicSNV | 1/9 | - |
19-54610170-C-T | NDUFA3 | c.216C>T | p.Asp72Asp | Synonymous | 4/4 | - |
X-24759511-T-C | POLA1 | c.2218T>C | p.Tyr740His | Missense | 21/37 | - |
1-226420040-T-C | LIN9 | c.*162A>G | - | 3-UTRSNV | 15/15 | - |
21-47552527-G-C | COL6A2 | c.*61G>C | - | 3-UTRSNV | 28/28 | - |
2-55812201-G-C | PPP4R3B | c.1219C>G | p.Gln407Glu | Missense | 7/15 | - |
2-85628745-C-G | CAPG | c.258G>C | p.Thr86Thr | Synonymous | 4/10 | - |
7-37991129-C-A | EPDR1 | c.*1131C>A | - | 3-UTRSNV | 3/3 | - |
7-29070209-G-A | CPVL | c.1304C>T | p.Ala435Val | Missense | 12/13 | - |
18-19446839-A-G | MIB1 | c.*2212A>G | - | 3-UTRSNV | 21/21 | - |
X-19377881-C-A | PDHA1 | c.*110C>A | - | 3-UTRSNV | 11/11 | - |
X-19377881-C-T | PDHA1 | c.*110C>T | - | 3-UTRSNV | 11/11 | - |
12-109973980-AG-AGAG | UBE3B | c.*1393_*1394dup | - | 3-UTRInsertion | 28/28 | - |
2-242435042-C-T | STK25 | c.*35G>A | - | 3-UTRSNV | 12/12 | - |
6-112194496-G-C | FYN | c.-448C>G | - | 5_prime_UTR_variant | 1/14 | - |
2-242122130-A-T | PPP1R7 | c.975A>T | p.Thr325Thr | Synonymous | 10/10 | - |
X-71787782-T-C | HDAC8 | c.394A>G | p.Lys132Glu | Missense | 4/11 | - |
9-140084376-G-A | SSNA1 | c.*10G>A | - | 3-UTRSNV | 3/3 | - |
3-42599091-G-A | SEC22C | c.624C>T | p.His208His | Synonymous | 5/7 | - |
7-30405691-T-C | ZNRF2 | c.*63T>C | - | 3_prime_UTR_variant | 5/5 | - |
21-44190901-T-C | PDE9A | c.1499T>C | p.Met500Thr | Missense | 17/19 | - |
Y-14832620-G-T | USP9Y | c.195G>T | p.Glu65Asp | Missense | 4/46 | - |
4-142155445-T-A | ZNF330 | c.*302T>A | - | 3-UTRSNV | 10/10 | - |
20-4763299-C-G | RASSF2 | c.*1620G>C | - | 3-UTRSNV | 12/12 | - |
7-29070209-G-T | CPVL | c.1304C>A | p.Ala435Glu | Missense | 12/13 | - |
4-25806319-C-T | SEL1L3 | c.1620G>A | p.Lys540Lys | Synonymous | 10/24 | - |
12-113426180-G-A | OAS2 | c.*996G>A | - | 3-UTRSNV | 2/2 | - |
3-44686005-C-T | ZNF197 | c.*293C>T | - | 3-UTRSNV | 6/6 | - |
X-19377881-C-G | PDHA1 | c.*110C>G | - | 3-UTRSNV | 11/11 | - |
1-212277107-T-G | DTL | c.*825T>G | - | 3-UTRSNV | 15/15 | - |
12-112460749-A-G | ERP29 | c.*778A>G | - | 3-UTRSNV | 2/2 | - |
19-17212992-C-T | MYO9B | c.465C>T | p.Pro155Pro | Synonymous | 2/40 | - |
18-3457607-C-G | TGIF1 | c.875C>G | p.Pro292Arg | Missense | 3/3 | - |
22-39886057-G-A | MGAT3 | c.*1103G>A | - | 3-UTRSNV | 2/2 | - |
22-39886057-G-T | MGAT3 | c.*1103G>T | - | 3-UTRSNV | 2/2 | - |
4-699645-C-T | PCGF3 | c.-304C>T | - | 5_prime_UTR_variant | 1/11 | - |
2-30863708-G-A | LCLAT1 | c.*223G>A | - | 3-UTRSNV | 7/7 | - |
12-113532885-C-T | DTX1 | c.1425C>T | p.Tyr475Tyr | Synonymous | 7/9 | - |
14-74205878-C-T | ELMSAN1 | c.834G>A | p.Pro278Pro | Synonymous | 2/12 | - |
11-65421117-G-C | RELA | c.*732C>G | - | 3-UTRSNV | 11/11 | - |
6-133092046-C-A | SLC18B1 | c.1287G>T | p.Glu429Asp | Missense | 13/14 | - |
19-10394792-G-A | ICAM1 | c.721G>A | p.Gly241Arg | Missense | 4/7 | - |
6-133092046-C-T | SLC18B1 | c.1287G>A | p.Glu429Glu | Synonymous | 13/14 | - |
16-633851-T-C | PIGQ | c.*816T>C | - | 3-UTRSNV | 11/11 | - |
8-59361878-A-C | UBXN2B | c.*1768A>C | - | 3-UTRSNV | 8/8 | - |
1-156042915-G-A | MEX3A | c.*3450C>T | - | 3-UTRSNV | 2/2 | - |
9-72912914-G-A | SMC5 | c.1086G>A | p.Lys362Lys | Synonymous | 9/25 | - |
5-150584981-C-G | CCDC69 | c.104G>C | p.Gly35Ala | Missense | 2/9 | - |
17-67075072-G-A | ABCA6 | c.*42C>T | - | 3-UTRSNV | 39/39 | - |
1-79110645-G-T | IFI44L | c.*3151G>T | - | 3-UTRSNV | 9/9 | - |
10-38347987-A-G | ZNF33A | c.*2499A>G | - | 3-UTRSNV | 5/5 | - |
12-124421342-G-A | CCDC92 | c.*263C>T | - | 3-UTRSNV | 5/5 | - |
19-17431495-C-T | DDA1 | c.*1030C>T | - | 3-UTRSNV | 5/5 | - |
12-8671707-G-A | CLEC4D | c.335G>A | p.Cys112Tyr | Missense | 4/6 | - |
16-633353-T-C | PIGQ | c.*318T>C | - | 3-UTRSNV | 11/11 | - |
9-138831567-T-C | UBAC1 | c.915A>G | p.Lys305Lys | Synonymous | 8/10 | - |
3-10157368-C-T | BRK1 | c.1-18C>T | - | 5-UTRSNV | 1/3 | - |
19-20117685-G-A | ZNF682 | c.626C>T | p.Thr209Ile | Missense | 4/4 | - |
7-37991186-C-T | EPDR1 | c.*1188C>T | - | 3-UTRSNV | 3/3 | - |
17-38077938-C-T | ORMDL3 | c.*865G>A | - | 3-UTRSNV | 4/4 | - |
1-38174987-T-C | CDCA8 | c.*949T>C | - | 3-UTRSNV | 11/11 | - |
17-38077938-C-G | ORMDL3 | c.*865G>C | - | 3-UTRSNV | 4/4 | - |
1-205272918-G-A | NUAK2 | c.1547C>T | p.Ala516Val | Missense | 7/7 | - |
6-111628597-C-T | REV3L | c.9219G>A | p.Arg3073Arg | Synonymous | 32/33 | - |
11-60897885-G-A | VPS37C | c.*1407C>T | - | 3-UTRSNV | 5/5 | - |
6-111628597-C-G | REV3L | c.9219G>C | p.Arg3073Arg | Synonymous | 32/33 | - |
3-136056184-A-G | STAG1 | c.*912T>C | - | 3-UTRSNV | 34/34 | - |
1-79095581-T-C | IFI44L | c.704T>C | p.Ile235Thr | Missense | 4/9 | - |
1-79095581-T-A | IFI44L | c.704T>A | p.Ile235Asn | Missense | 4/9 | - |
16-87865022-C-T | SLC7A5 | c.*1554G>A | - | 3-UTRSNV | 10/10 | - |
16-87865022-C-G | SLC7A5 | c.*1554G>C | - | 3-UTRSNV | 10/10 | - |
2-224740332-A-T | WDFY1 | c.*3056T>A | - | 3-UTRSNV | 12/12 | - |
1-242048674-C-T | EXO1 | c.2270C>T | p.Pro757Leu | Missense | 13/14 | - |
5-138266546-G-C | CTNNA1 | c.2220G>C | p.Ser740Ser | Synonymous | 16/18 | - |
5-128449602-G-A | ISOC1 | c.*908G>A | - | 3-UTRSNV | 5/5 | - |
4-156265239-C-T | MAP9 | c.*3696G>A | - | 3-UTRSNV | 14/14 | - |
7-107259287-C-T | BCAP29 | c.*479C>T | - | 3-UTRSNV | 8/8 | - |
1-157557701-G-C | FCRL4 | c.516C>G | p.Asp172Glu | Missense | 4/12 | - |
1-157557701-G-A | FCRL4 | c.516C>T | p.Asp172Asp | Synonymous | 4/12 | - |
8-22107986-A-G | POLR3D | c.1152A>G | p.Val384Val | Synonymous | 9/9 | - |
9-135770250-A-C | TSC1 | c.*1372T>G | - | 3-UTRSNV | 23/23 | - |
5-1494909-C-T | LPCAT1 | c.399G>A | p.Ala133Ala | Synonymous | 3/14 | - |
X-77385748-C-T | TAF9B | c.*1359G>A | - | 3-UTRSNV | 7/7 | - |
14-102482399-C-T | DYNC1H1 | c.7449C>T | p.Ile2483Ile | Synonymous | 36/78 | - |
6-26415062-C-A | BTN3A1 | c.*1142C>A | - | 3-UTRSNV | 10/10 | - |
6-26415062-C-T | BTN3A1 | c.*1142C>T | - | 3-UTRSNV | 10/10 | - |
21-44323720-C-T | NDUFV3 | c.170-5254C>T | - | IntronicSNV | - | 2/2 |
2-8877042-G-A | KIDINS220 | c.3673C>T | p.Leu1225Leu | Synonymous | 27/30 | - |
2-29022959-T-C | PPP1CB | c.*790T>C | - | 3-UTRSNV | 8/8 | - |
14-102482399-C-A | DYNC1H1 | c.7449C>A | p.Ile2483Ile | Synonymous | 36/78 | - |
7-90897731-A-C | FZD1 | c.*1592A>C | - | 3-UTRSNV | 1/1 | - |
11-60703403-G-C | TMEM132A | c.2099G>C | p.Arg700Pro | Missense | 11/11 | - |
11-60703403-G-A | TMEM132A | c.2099G>A | p.Arg700His | Missense | 11/11 | - |
1-213277818-C-A | RPS6KC1 | c.285C>A | p.Ile95Ile | Synonymous | 4/15 | - |
11-60703403-G-T | TMEM132A | c.2099G>T | p.Arg700Leu | Missense | 11/11 | - |
17-1684605-G-T | SMYD4 | c.2390C>A | p.Pro797His | Missense | 11/11 | - |
7-16823169-A-T | TSPAN13 | c.*53A>T | - | 3-UTRSNV | 6/6 | - |
1-119575297-C-T | WARS2 | c.*237G>A | - | 3-UTRSNV | 6/6 | - |
1-119575297-C-G | WARS2 | c.*237G>C | - | 3-UTRSNV | 6/6 | - |
17-1377943-A-G | MYO1C | c.1758T>C | p.Phe586Phe | Synonymous | 17/32 | - |
16-3590725-C-A | NLRC3 | c.*1100G>T | - | 3_prime_UTR_variant | 21/21 | - |
6-33739508-G-C | LEMD2 | c.*897C>G | - | 3-UTRSNV | 9/9 | - |
14-55511518-T-G | SOCS4 | c.*436T>G | - | 3-UTRSNV | 2/2 | - |
11-65819931-G-T | SF3B2 | c.76G>T | p.Ala26Ser | Missense | 1/22 | - |
11-65819931-G-A | SF3B2 | c.76G>A | p.Ala26Thr | Missense | 1/22 | - |
1-63872032-T-C | ALG6 | c.391T>C | p.Tyr131His | Missense | 6/15 | - |
12-109973979-G-C | UBE3B | c.*1392G>C | - | 3-UTRSNV | 28/28 | - |
6-36654964-A-T | CDKN1A | c.*1387A>T | - | 3-UTRSNV | 4/4 | - |
6-36654964-A-G | CDKN1A | c.*1387A>G | - | 3-UTRSNV | 4/4 | - |
1-15959977-C-T | DDI2 | c.549C>T | p.Ala183Ala | Synonymous | 4/10 | - |
X-101142000-T-C | ZMAT1 | c.506-297A>G | - | IntronicSNV | - | 5/6 |
19-21609516-C-T | ZNF493 | c.*1730C>T | - | 3-UTRSNV | 2/2 | - |
19-14705574-T-C | CLEC17A | c.365T>C | p.Leu122Pro | Missense | 7/13 | - |
1-213277818-C-T | RPS6KC1 | c.285C>T | p.Ile95Ile | Synonymous | 4/15 | - |
10-99433608-C-T | PI4K2A | c.*109C>T | - | 3-UTRSNV | 9/9 | - |
7-16823169-A-C | TSPAN13 | c.*53A>C | - | 3-UTRSNV | 6/6 | - |
17-45700138-T-C | NPEPPS | c.*852T>C | - | 3-UTRSNV | 23/23 | - |
8-144891768-C-T | SCRIB | c.1651G>A | p.Ala551Thr | Missense | 14/36 | - |
8-144891768-C-A | SCRIB | c.1651G>T | p.Ala551Ser | Missense | 14/36 | - |
16-68600595-A-G | ZFP90 | c.*1994A>G | - | 3-UTRSNV | 5/5 | - |
11-119179678-TA-CG | MCAM | c.*917_*918delinsCG | - | 3-UTRBlockSubstitution | 16/16 | - |
15-63883405-G-T | USP3 | c.*380G>T | - | 3-UTRSNV | 14/14 | - |
19-11893555-T-C | ZNF441 | c.*834T>C | - | 3-UTRSNV | 4/4 | - |
19-19904269-T-A | ZNF506 | c.*1092A>T | - | 3-UTRSNV | 4/4 | - |
1-33145448-C-T | RBBP4 | c.*142C>T | - | 3-UTRSNV | 12/12 | - |
9-740901-C-G | KANK1 | c.3663C>G | p.Phe1221Leu | Missense | 9/12 | - |
2-208689182-G-A | PLEKHM3 | c.*3861C>T | - | 3-UTRSNV | 8/8 | - |
7-152344534-G-A | XRCC2 | c.*1193C>T | - | 3-UTRSNV | 3/3 | - |
7-152344534-G-T | XRCC2 | c.*1193C>A | - | 3-UTRSNV | 3/3 | - |
6-53133848-T-C | ELOVL5 | c.*77A>G | - | 3-UTRSNV | 8/8 | - |
1-213277818-C-G | RPS6KC1 | c.285C>G | p.Ile95Met | Missense | 4/15 | - |
3-107881152-T-C | IFT57 | c.*172A>G | - | 3-UTRSNV | 11/11 | - |
20-48506338-A-G | SLC9A8 | c.*1865A>G | - | 3-UTRSNV | 16/16 | - |
2-73679956-C-T | ALMS1 | c.6305C>T | - | missense_variant | 8/23 | - |
2-5839686-A-G | SOX11 | c.*5507A>G | - | 3-UTRSNV | 1/1 | - |
11-134020848-G-A | NCAPD3 | c.*1991C>T | - | IntergenicSNV | 35/35 | - |
12-1890199-G-A | ADIPOR2 | c.795G>A | p.Gln265Gln | Synonymous | 6/8 | - |
13-30780602-C-T | KATNAL1 | c.*2075G>A | - | 3-UTRSNV | 11/11 | - |
17-73827205-T-C | UNC13D | c.2599A>G | p.Lys867Glu | Missense | 27/32 | - |
12-77245750-A-T | ZDHHC17 | c.*985A>T | - | 3-UTRSNV | 17/17 | - |
19-6755007-T-C | SH2D3A | c.816A>G | p.Thr272Thr | Synonymous | 5/10 | - |
3-187439611-T-A | BCL6 | c.*635A>T | - | 3-UTRSNV | 10/10 | - |
19-49426488-T-C | NUCB1 | c.*807T>C | - | 3-UTRSNV | 13/13 | - |
12-8672870-C-G | CLEC4D | c.433C>G | p.Leu145Val | Missense | 5/6 | - |
17-73942150-A-G | ACOX1 | c.*679T>C | - | 3-UTRSNV | 14/14 | - |
12-8673804-T-A | CLEC4D | c.585T>A | p.Asn195Lys | Missense | 6/6 | - |
X-19378499-C-A | PDHA1 | c.*728C>A | - | 3-UTRSNV | 11/11 | - |
20-48507912-A-G | SLC9A8 | c.*3439A>G | - | 3-UTRSNV | 16/16 | - |
6-31382893-A-G | MICA | c.*134A>G | - | 3_prime_UTR_variant | 6/6 | - |
16-89762647-T-C | CDK10 | c.*547T>C | - | 3-UTRSNV | 13/13 | - |
3-107880473-T-G | IFT57 | c.*851A>C | - | 3-UTRSNV | 11/11 | - |
20-61834695-G-A | YTHDF1 | c.597C>T | p.Ala199Ala | Synonymous | 4/5 | - |
12-121677013-G-A | CAMKK2 | c.*1587C>T | - | 3-UTRSNV | 16/16 | - |
2-231683657-G-T | CAB39 | c.*238G>T | - | 3-UTRSNV | 9/9 | - |
2-231683657-G-A | CAB39 | c.*238G>A | - | 3-UTRSNV | 9/9 | - |
20-43535101-T-C | YWHAB | c.*22T>C | - | 3-UTRSNV | 7/7 | - |
20-43535101-T-G | YWHAB | c.*22T>G | - | 3-UTRSNV | 7/7 | - |
1-161199805-A-G | NR1I3 | c.933-243T>C | - | IntronicSNV | - | 8/8 |
8-41367882-A-G | GOLGA7 | c.*795A>G | - | 3_prime_UTR_variant | 6/6 | - |
19-44515352-T-G | ZNF230 | c.1161T>G | p.Thr387Thr | Synonymous | 5/5 | - |
12-105534790-T-G | WASHC4 | c.1674T>G | p.Ile558Met | Missense | 17/33 | - |
9-7174813-T-A | KDM4C | c.*84T>A | - | 3-UTRSNV | 22/22 | - |
9-136334458-G-A | CACFD1 | c.*683G>A | - | 3-UTRSNV | 5/5 | - |
9-130552179-G-A | CDK9 | c.*357G>A | - | 3-UTRSNV | 7/7 | - |
16-74330749-C-T | PSMD7 | c.1-64C>T | - | 5-UTRSNV | 1/7 | - |
15-75310286-C-T | SCAMP5 | c.369C>T | p.Ala123Ala | Synonymous | 5/7 | - |
15-75310286-C-A | SCAMP5 | c.369C>A | p.Ala123Ala | Synonymous | 5/7 | - |
11-88027209-T-C | CTSC | c.1357A>G | p.Ile453Val | Missense | 7/7 | - |
5-34954770-A-G | DNAJC21 | c.1682A>G | p.Asn561Ser | Missense | 13/13 | - |
17-76988785-G-A | CANT1 | c.*847C>T | - | 3-UTRSNV | 4/4 | - |
22-24125892-G-A | MMP11 | c.*161G>A | - | 3-UTRSNV | 8/8 | - |
1-203710689-A-C | ATP2B4 | c.*1990A>C | - | 3-UTRSNV | 22/22 | - |
5-184393-C-T | PLEKHG4B | c.*1955C>T | - | 3-UTRSNV | 20/20 | - |
2-206866780-C-T | INO80D | c.*2312G>A | - | 3-UTRSNV | 11/11 | - |
3-56654322-T-C | CCDC66 | c.2658+393T>C | - | IntronicSNV | - | 17/17 |
1-227954677-C-T | SNAP47 | c.1141C>T | p.Arg381Cys | Missense | 4/5 | - |
1-111785079-C-A | CHI3L2 | c.*93C>A | - | IntronicSNV | 11/11 | - |
3-196460680-C-A | PIGX | c.684C>A | p.Thr228Thr | Synonymous | 6/6 | - |
1-111785079-C-T | CHI3L2 | c.*93C>T | - | IntronicSNV | 11/11 | - |
21-44270229-C-T | WDR4 | c.1166G>A | p.Arg389Gln | Missense | 11/11 | - |
20-2125793-C-G | STK35 | c.*1401C>G | - | 3_prime_UTR_variant | 4/4 | - |
2-150443660-A-C | MMADHC | c.1-49T>G | - | 5-UTRSNV | 2/8 | - |
10-72326400-G-A | PALD1 | c.2482G>A | p.Gly828Arg | Missense | 20/20 | - |
2-70315448-A-T | PCBP1 | c.573A>T | p.Pro191Pro | Synonymous | 1/1 | - |
1-242023898-A-G | EXO1 | c.836A>G | p.Asn279Ser | Missense | 7/14 | - |
16-57075406-T-C | NLRC5 | c.2949T>C | p.His983His | Synonymous | 17/48 | - |
1-242023898-A-T | EXO1 | c.836A>T | p.Asn279Ile | Missense | 7/14 | - |
9-115600827-C-T | SNX30 | c.864C>T | p.Ser288Ser | Synonymous | 6/9 | - |
9-4860643-G-C | RCL1 | c.*368G>C | - | 3-UTRSNV | 9/9 | - |
9-4860643-G-T | RCL1 | c.*368G>T | - | 3-UTRSNV | 9/9 | - |
7-37990473-T-G | EPDR1 | c.*475T>G | - | 3-UTRSNV | 3/3 | - |
9-15464834-C-T | PSIP1 | c.*684G>A | - | 3-UTRSNV | 16/16 | - |
3-38534296-T-C | ACVR2B | c.*9473T>C | - | 3-UTRSNV | 11/11 | - |
9-19372275-A-G | DENND4C | c.*104A>G | - | 3-UTRSNV | 32/32 | - |
2-197662526-T-A | GTF3C3 | c.209A>T | p.Asn70Ile | Missense | 2/9 | - |
2-197662526-T-C | GTF3C3 | c.209A>G | p.Asn70Ser | Missense | 2/9 | - |
12-8670865-C-T | CLEC4D | c.227C>T | p.Ala76Val | Missense | 3/6 | - |
14-34902584-T-C | SPTSSA | c.*1823A>G | - | 3-UTRSNV | 2/2 | - |
6-11184801-C-T | NEDD9 | c.*594G>A | - | 3-UTRSNV | 7/7 | - |
4-1694816-A-G | SLBP | c.*508T>C | - | 3-UTRSNV | 8/8 | - |
9-21331119-C-T | KLHL9 | c.*1886G>A | - | 3-UTRSNV | 1/1 | - |
8-66525548-T-C | ARMC1 | c.396A>G | p.Gln132Gln | Synonymous | 4/7 | - |
4-1720346-A-G | TMEM129 | c.213T>C | p.Tyr71Tyr | Synonymous | 2/3 | - |
1-89426956-C-T | KYAT3 | c.681G>A | p.Glu227Glu | Synonymous | 8/14 | - |
2-234749780-G-T | HJURP | c.1646C>A | p.Ser549Tyr | Missense | 8/9 | - |
1-55188382-C-T | TTC4 | c.504C>T | p.Ala168Ala | Synonymous | 5/10 | - |
17-75369578-T-A | SEPT9 | c.23-28563T>A | - | IntronicSNV | - | 1/10 |
1-79093818-A-G | IFI44L | c.218A>G | p.His73Arg | Missense | 2/9 | - |
2-242072357-G-A | PASK | c.1395C>T | p.Thr465Thr | Synonymous | 9/18 | - |
7-43647879-C-T | STK17A | c.444C>T | p.Asp148Asp | Synonymous | 3/7 | - |
11-121393684-G-T | SORL1 | c.1582G>T | p.Ala528Ser | Missense | 11/48 | - |
11-121393684-G-A | SORL1 | c.1582G>A | p.Ala528Thr | Missense | 11/48 | - |
3-120049117-T-C | LRRC58 | c.*930A>G | - | 3-UTRSNV | 4/4 | - |
1-171673236-G-A | VAMP4 | c.*410C>T | - | 3-UTRSNV | 8/8 | - |
8-1953880-T-A | KBTBD11 | c.*2650T>A | - | 3-UTRSNV | 2/2 | - |
16-11018447-G-A | CIITA | c.*735G>A | - | 3_prime_UTR_variant | 20/20 | - |
7-66274955-G-A | RABGEF1 | c.*684G>A | - | 3-UTRSNV | 9/9 | - |
1-46655645-C-T | POMGNT1 | c.1666G>A | p.Asp556Asn | Missense | 20/22 | - |
2-234749780-G-C | HJURP | c.1646C>G | p.Ser549Cys | Missense | 8/9 | - |
6-7610817-G-A | SNRNP48 | c.*1711G>A | - | 3-UTRSNV | 9/9 | - |
2-202565632-T-C | ALS2 | c.*942A>G | - | 3-UTRSNV | 34/34 | - |
6-158734913-T-C | TULP4 | c.1-136T>C | - | 5-UTRSNV | 1/14 | - |
1-158153943-C-G | CD1D | c.*3C>G | - | 3-UTRSNV | 7/7 | - |
2-3483205-C-T | TRAPPC12 | c.2181C>T | p.Phe727Phe | Synonymous | 12/12 | - |
20-16032947-A-G | MACROD2 | c.*2426A>G | - | 3-UTRSNV | 17/17 | - |
2-17927364-T-C | SMC6 | c.1-151A>G | - | IntronicSNV | 1/27 | - |
3-176739388-C-T | TBL1XR1 | c.*3898G>A | - | 3-UTRSNV | 16/16 | - |
16-88926089-C-T | TRAPPC2L | c.225C>T | p.Asn75Asn | Synonymous | 3/5 | - |
2-100055763-G-A | REV1 | c.513C>T | p.Ile171Ile | Synonymous | 6/23 | - |
1-160397254-G-T | VANGL2 | c.*2086G>T | - | 3-UTRSNV | 8/8 | - |
7-589754-G-C | PRKAR1B | c.*313C>G | - | 3-UTRSNV | 11/11 | - |
19-4360543-G-A | SH3GL1 | c.*1054C>T | - | 3-UTRSNV | 10/10 | - |
19-16345836-C-T | AP1M1 | c.*590C>T | - | 3-UTRSNV | 12/12 | - |
4-114373690-A-T | CAMK2D | c.*3221T>A | - | 3-UTRSNV | 19/19 | - |
5-126140522-T-C | LMNB1 | c.414T>C | p.Tyr138Tyr | Synonymous | 2/11 | - |
2-48010488-G-T | MSH6 | c.116G>T | p.Gly39Val | Missense | 1/10 | - |
18-44634756-A-G | HDHD2 | c.*297T>C | - | 3-UTRSNV | 7/7 | - |
13-21728687-T-A | SKA3 | c.*602A>T | - | 3-UTRSNV | 9/9 | - |
12-8671625-C-A | CLEC4D | c.253C>A | p.Pro85Thr | Missense | 4/6 | - |
14-51237701-A-G | NIN | c.1128T>C | p.Val376Val | Synonymous | 11/30 | - |
14-51237701-A-T | NIN | c.1128T>A | p.Val376Val | Synonymous | 11/30 | - |
17-73772856-G-C | H3F3B | c.*1820C>G | - | 3-UTRSNV | 4/4 | - |
16-421912-G-A | TMEM8A | c.*75C>T | - | 3-UTRSNV | 13/13 | - |
22-17589567-C-T | IL17RA | c.1458C>T | p.Ile486Ile | Synonymous | 13/13 | - |
17-76993897-C-T | CANT1 | c.1-193G>A | - | 5-UTRSNV | 2/4 | - |
2-101869588-G-T | CNOT11 | c.162G>T | p.Pro54Pro | Synonymous | 1/7 | - |
1-15896984-A-G | DNAJC16 | c.*2312A>G | - | 3-UTRSNV | 15/15 | - |
17-7749954-C-A | KDM6B | c.607C>A | p.Pro203Thr | Missense | 8/22 | - |
17-7749954-C-T | KDM6B | c.607C>T | p.Pro203Ser | Missense | 8/22 | - |
12-105152960-A-G | CHST11 | c.*1379A>G | - | 3-UTRSNV | 3/3 | - |
16-20746057-C-T | THUMPD1 | c.*2145G>A | - | 3-UTRSNV | 4/4 | - |
11-62361266-C-G | MTA2 | c.*81G>C | - | 3-UTRSNV | 18/18 | - |
1-171673272-C-A | VAMP4 | c.*374G>T | - | 3-UTRSNV | 8/8 | - |
12-113736097-G-A | TPCN1 | c.*2216G>A | - | 3-UTRSNV | 28/28 | - |
15-63883405-G-A | USP3 | c.*380G>A | - | 3-UTRSNV | 14/14 | - |
16-1509123-G-A | CLCN7 | c.660C>T | p.His220His | Synonymous | 7/25 | - |
17-49338257-C-T | UTP18 | c.312C>T | p.Asp104Asp | Synonymous | 1/14 | - |
4-40158167-A-G | N4BP2 | c.*2310A>G | - | 3-UTRSNV | 18/18 | - |
2-101869588-G-C | CNOT11 | c.162G>C | p.Pro54Pro | Synonymous | 1/7 | - |
1-212277304-C-A | DTL | c.*1022C>A | - | 3-UTRSNV | 15/15 | - |
1-212277304-C-G | DTL | c.*1022C>G | - | 3-UTRSNV | 15/15 | - |
17-7749954-C-G | KDM6B | c.607C>G | p.Pro203Ala | Missense | 8/22 | - |
16-20746057-C-G | THUMPD1 | c.*2145G>C | - | 3-UTRSNV | 4/4 | - |
11-62361266-C-T | MTA2 | c.*81G>A | - | 3-UTRSNV | 18/18 | - |
19-20046147-G-A | ZNF93 | c.*520G>A | - | 3-UTRSNV | 4/4 | - |
4-39124419-C-T | KLHL5 | c.*1733C>T | - | 3-UTRSNV | 12/12 | - |
16-15131076-G-A | PDXDC1 | c.*944G>A | - | 3-UTRSNV | 23/23 | - |
12-113737225-G-C | SLC8B1 | c.*357C>G | - | 3-UTRSNV | 16/16 | - |
3-195594950-G-A | TNK2 | c.2174C>T | p.Pro725Leu | Missense | 12/15 | - |
19-5152898-T-A | KDM4B | c.*1376T>A | - | 3-UTRSNV | 23/23 | - |
17-40722162-G-A | MLX | c.801G>A | p.Ala267Ala | Synonymous | 7/8 | - |
3-186301703-A-G | DNAJB11 | c.790A>G | p.Ile264Val | Missense | 8/10 | - |
1-204520972-T-C | MDM4 | c.*2162T>C | - | 3-UTRSNV | 11/11 | - |
7-128032833-C-T | IMPDH1 | c.*228G>A | - | 3-UTRSNV | 17/17 | - |
3-42689777-T-G | NKTR | c.*2310T>G | - | 3-UTRSNV | 17/17 | - |
20-48698568-C-T | UBE2V1 | c.*737G>A | - | 3-UTRSNV | 4/4 | - |
3-183207231-T-C | KLHL6 | c.*2484A>G | - | 3-UTRSNV | 7/7 | - |
3-195965760-A-G | PCYT1A | c.903T>C | p.His301His | Synonymous | 10/10 | - |
16-15131974-G-T | PDXDC1 | c.*1842G>T | - | IntergenicSNV | 23/23 | - |
13-99101869-G-C | FARP1 | c.*1298G>C | - | 3-UTRSNV | 27/27 | - |
2-86368641-C-A | PTCD3 | c.*3959C>A | - | 3-UTRSNV | 24/24 | - |
13-21728134-G-A | SKA3 | c.*1155C>T | - | 3-UTRSNV | 9/9 | - |
3-146254443-C-T | PLSCR1 | c.1-104G>A | - | IntronicSNV | 1/9 | - |
21-35477486-C-T | SLC5A3 | c.*7832C>T | - | 3-UTRSNV | 2/2 | - |
19-53950475-G-T | ZNF761 | c.1-47G>T | - | 5-UTRSNV | 4/7 | - |
16-842450-C-T | CHTF18 | c.1338C>T | p.Asn446Asn | Synonymous | 11/22 | - |
14-70180412-T-G | SUSD6 | c.*2716T>G | - | 3-UTRSNV | 6/6 | - |
14-24845841-T-C | NFATC4 | c.2398T>C | p.Ser800Pro | Missense | 9/10 | - |
1-156532977-T-C | IQGAP3 | c.747A>G | p.Gln249Gln | Synonymous | 8/38 | - |
20-52104352-C-T | TSHZ2 | c.*678C>T | - | 3_prime_UTR_variant | 3/3 | - |
19-55902941-G-A | RPL28 | c.*3241G>A | - | 3-UTRSNV | 5/5 | - |
1-181029082-G-A | MR1 | c.*4681G>A | - | 3-UTRSNV | 7/7 | - |
16-29999488-T-G | TAOK2 | c.*187T>G | - | 3-UTRSNV | 16/16 | - |
5-139624870-A-G | PFDN1 | c.*689T>C | - | 3-UTRSNV | 4/4 | - |
6-30867830-T-G | DDR1 | c.*757T>G | - | 3-UTRSNV | 17/17 | - |
18-51807123-T-C | POLI | c.646T>C | p.Leu216Leu | Synonymous | 5/10 | - |
1-205501843-A-G | CDK18 | c.*1337A>G | - | 3-UTRSNV | 16/16 | - |
16-15129970-A-G | PDXDC1 | c.2205A>G | p.Leu735Leu | Synonymous | 23/23 | - |
12-114282496-C-T | RBM19 | c.2762G>A | p.Arg921Gln | Missense | 23/24 | - |
4-141590135-C-T | TBC1D9 | c.1524G>A | p.Thr508Thr | Synonymous | 9/21 | - |
17-73125407-C-T | ARMC7 | c.*274C>T | - | 3-UTRSNV | 3/3 | - |
5-184750-A-G | PLEKHG4B | c.*2312A>G | - | 3-UTRSNV | 20/20 | - |
13-25479541-A-C | CENPJ | c.2635T>G | p.Ser879Ala | Missense | 7/17 | - |
1-16259143-G-A | SPEN | c.6408G>A | p.Gln2136Gln | Synonymous | 11/15 | - |
14-74206847-A-G | ELMSAN1 | c.1-136T>C | - | 5-UTRSNV | 2/12 | - |
19-10754814-G-A | SLC44A2 | c.*753G>A | - | 3-UTRSNV | 22/22 | - |
X-48681187-G-A | HDAC6 | c.2495G>A | p.Arg832His | Missense | 24/29 | - |
1-55197320-G-C | TTC4 | c.843G>C | p.Leu281Leu | Synonymous | 7/10 | - |
17-54966805-A-G | TRIM25 | c.*2256T>C | - | 3-UTRSNV | 9/9 | - |
6-44266708-T-C | AARS2 | c.*1576A>G | - | 3-UTRSNV | 22/22 | - |
18-60241699-T-C | ZCCHC2 | c.2385T>C | p.Ile795Ile | Synonymous | 13/14 | - |
3-197427557-A-G | RUBCN | c.1008T>C | p.Thr336Thr | Synonymous | 7/21 | - |
3-197427557-A-C | RUBCN | c.1008T>G | p.Thr336Thr | Synonymous | 7/21 | - |
19-6760974-T-C | SH2D3A | c.94A>G | p.Asn32Asp | Missense | 3/10 | - |
15-83502777-C-T | WHAMM | c.*489C>T | - | 3-UTRSNV | 10/10 | - |
14-96558913-G-T | C14orf132 | c.*5841G>T | - | 3-UTRSNV | 2/2 | - |
14-96558913-G-A | C14orf132 | c.*5841G>A | - | 3-UTRSNV | 2/2 | - |
1-150448666-C-G | RPRD2 | c.*2856C>G | - | 3-UTRSNV | 11/11 | - |
4-4419611-C-T | NSG1 | c.*449C>T | - | 3-UTRSNV | 5/5 | - |
16-71679027-G-T | PHLPP2 | c.*3766C>A | - | 3-UTRSNV | 19/19 | - |
21-44190901-T-G | PDE9A | c.1499T>G | p.Met500Arg | Missense | 17/19 | - |
20-44645010-C-T | MMP9 | c.*3C>T | - | 3-UTRSNV | 13/13 | - |
12-123105143-C-T | KNTC1 | c.6267C>T | p.His2089His | Synonymous | 60/64 | - |
20-47249170-G-A | PREX1 | c.4275C>T | p.Asn1425Asn | Synonymous | 34/40 | - |
14-50575808-T-C | VCPKMT | c.*609A>G | - | 3-UTRSNV | 6/6 | - |
1-211488718-A-G | RCOR3 | c.*1608A>G | - | 3-UTRSNV | 11/11 | - |
15-73052840-T-C | ADPGK | c.551A>G | p.Lys184Arg | Missense | 4/7 | - |
20-6017821-C-T | CRLS1 | c.*17C>T | - | 3-UTRSNV | 7/7 | - |
4-882643-G-A | GAK | c.1197C>T | p.Ser399Ser | Synonymous | 11/28 | - |
6-32972162-C-T | HLA-DOA | c.*2453G>A | - | 3-UTRSNV | 5/5 | - |
3-53852053-G-A | CHDH | c.1536C>T | p.Pro512Pro | Synonymous | 9/9 | - |
19-15562535-A-G | RASAL3 | c.*71T>C | - | 3-UTRSNV | 18/18 | - |
5-96117555-C-T | ERAP1 | c.2289G>A | p.Leu763Leu | Synonymous | 16/20 | - |
19-50372762-G-A | AKT1S1 | c.*412C>T | - | 3-UTRSNV | 5/5 | - |
16-87437787-C-A | MAP1LC3B | c.*1084C>A | - | 3-UTRSNV | 4/4 | - |
12-46577893-G-C | SLC38A1 | c.*4860C>G | - | 3-UTRSNV | 17/17 | - |
4-178274750-C-T | NEIL3 | c.1328C>T | p.Pro443Leu | Missense | 8/10 | - |
22-37523246-T-C | IL2RB | c.*890A>G | - | 3-UTRSNV | 10/10 | - |
9-93641175-C-T | SYK | c.1452C>T | p.Tyr484Tyr | Synonymous | 10/13 | - |
6-158734915-A-G | TULP4 | c.1-134A>G | - | 5-UTRSNV | 1/14 | - |
4-68484396-G-A | UBA6 | c.*319C>T | - | 3-UTRSNV | 33/33 | - |
21-46189767-G-A | UBE2G2 | c.*1525C>T | - | 3-UTRSNV | 7/7 | - |
11-45951743-G-A | PHF21A | c.*3776C>T | - | 3-UTRSNV | 18/18 | - |
19-21908772-A-C | ZNF100 | c.*713T>G | - | 3-UTRSNV | 5/5 | - |
5-74017312-C-T | GFM2 | c.*168G>A | - | 3-UTRSNV | 21/21 | - |
6-158734915-A-T | TULP4 | c.1-134A>T | - | 5-UTRSNV | 1/14 | - |
7-30199997-T-G | MTURN | c.*2833T>G | - | 3-UTRSNV | 3/3 | - |
16-68394763-C-T | SMPD3 | c.*346G>A | - | 3-UTRSNV | 9/9 | - |
17-61851686-T-G | DDX42 | c.-138T>G | - | 5_prime_UTR_variant | 1/19 | - |
20-52105972-C-T | TSHZ2 | c.*2298C>T | - | 3_prime_UTR_variant | 3/3 | - |
15-41749916-T-C | RTF1 | c.504T>C | p.Asp168Asp | Synonymous | 4/18 | - |
15-41749916-T-A | RTF1 | c.504T>A | p.Asp168Glu | Missense | 4/18 | - |
16-19563548-A-G | CCP110 | c.*955A>G | - | 3-UTRSNV | 15/15 | - |
4-119631629-T-C | METTL14 | c.*172T>C | - | 3-UTRSNV | 11/11 | - |
16-27236403-G-A | NSMCE1 | c.*75C>T | - | 3-UTRSNV | 8/8 | - |
22-45581839-C-A | NUP50 | c.*1303C>A | - | 3-UTRSNV | 8/8 | - |
1-111983152-A-G | WDR77 | c.*700T>C | - | 3-UTRSNV | 10/10 | - |
14-64596823-C-T | SYNE2 | c.14197C>T | p.Pro4733Ser | Missense | 76/116 | - |
9-2828742-C-T | PUM3 | c.889G>A | p.Val297Ile | Missense | 9/18 | - |
14-33291494-C-T | AKAP6 | c.4475C>T | p.Ala1492Val | Missense | 13/14 | - |
12-102455729-G-A | WASHC3 | c.12C>T | p.Asp4Asp | Synonymous | 1/7 | - |
7-76111835-G-T | DTX2 | c.279G>T | p.Arg93Arg | Synonymous | 4/11 | - |
10-13251973-T-G | MCM10 | c.*663T>G | - | 3-UTRSNV | 20/20 | - |
6-31110789-T-C | CCHCR1 | c.2175A>G | p.Ser725Ser | Synonymous | 17/18 | - |
1-157768000-G-T | FCRL1 | c.1065C>A | p.Thr355Thr | Synonymous | 8/11 | - |
X-19378615-A-G | PDHA1 | c.*844A>G | - | 3-UTRSNV | 11/11 | - |
7-139297951-G-C | HIPK2 | c.1059C>G | p.Ala353Ala | Synonymous | 2/15 | - |
3-10044457-C-G | EMC3 | c.-242+8250G>C | - | intron_variant | - | 1/8 |
3-52563199-A-T | NT5DC2 | c.273T>A | p.Ser91Arg | Missense | 2/14 | - |
17-34416537-G-A | CCL3 | c.180C>T | p.Pro60Pro | Synonymous | 2/3 | - |
17-79215019-C-T | NDUFAF8 | c.*203C>T | - | 3-UTRSNV | 3/3 | - |
19-41128413-G-A | LTBP4 | c.3414G>A | p.Leu1138Leu | Synonymous | 27/34 | - |
4-3319553-C-T | RGS12 | c.1656C>T | p.Ser552Ser | Synonymous | 2/17 | - |
3-120115286-T-A | FSTL1 | c.*513A>T | - | 3-UTRSNV | 11/11 | - |
12-49331679-T-A | ARF3 | c.*1051A>T | - | 3-UTRSNV | 5/5 | - |
20-48505749-A-T | SLC9A8 | c.*1276A>T | - | 3-UTRSNV | 16/16 | - |
12-49222217-T-C | CACNB3 | c.*535T>C | - | 3-UTRSNV | 13/13 | - |
19-9272890-A-G | ZNF317 | c.*781A>G | - | 3-UTRSNV | 7/7 | - |
17-40465910-T-C | STAT3 | c.*1853A>G | - | 3-UTRSNV | 24/24 | - |
8-103217695-A-G | RRM2B | c.*2666T>C | - | 3-UTRSNV | 9/9 | - |
19-16980668-C-T | SIN3B | c.2300C>T | p.Pro767Leu | Missense | 14/20 | - |
8-134470361-G-A | ST3GAL1 | c.*1646C>T | - | 3-UTRSNV | 9/9 | - |
8-134470361-G-C | ST3GAL1 | c.*1646C>G | - | 3-UTRSNV | 9/9 | - |
6-26413744-C-A | BTN3A1 | c.1210C>A | p.Pro404Thr | Missense | 10/10 | - |
19-899444-C-G | R3HDM4 | c.699G>C | p.Ser233Ser | Synonymous | 7/8 | - |
19-899444-C-T | R3HDM4 | c.699G>A | p.Ser233Ser | Synonymous | 7/8 | - |
1-55207216-T-C | TTC4 | c.*30T>C | - | 3-UTRSNV | 10/10 | - |
12-8673804-T-G | CLEC4D | c.585T>G | p.Asn195Lys | Missense | 6/6 | - |
16-28109760-G-A | XPO6 | c.*99C>T | - | 3-UTRSNV | 25/25 | - |
15-83781631-C-T | TM6SF1 | c.175C>T | p.Pro59Ser | Missense | 2/10 | - |
5-66480374-G-C | CD180 | c.297C>G | p.Ser99Arg | Missense | 3/3 | - |
5-114952011-T-A | TMED7-TICAM2 | c.566+4A>T | - | IntronicSNV | - | 3/3 |
6-26413975-C-T | BTN3A1 | c.*55C>T | - | 3-UTRSNV | 10/10 | - |
6-26413744-C-T | BTN3A1 | c.1210C>T | p.Pro404Ser | Missense | 10/10 | - |
7-29961939-G-T | SCRN1 | c.*1634C>A | - | 3-UTRSNV | 8/8 | - |
17-6677901-C-T | XAF1 | c.*1413C>T | - | 3-UTRSNV | 7/7 | - |
13-99105022-T-C | STK24 | c.*405A>G | - | 3-UTRSNV | 11/11 | - |
14-70171418-T-C | SUSD6 | c.417T>C | p.Phe139Phe | Synonymous | 4/6 | - |
5-134689300-T-C | H2AFY | c.586-565A>G | - | IntronicSNV | - | 5/8 |
2-242434903-T-C | STK25 | c.*174A>G | - | 3-UTRSNV | 12/12 | - |
8-1952490-G-C | KBTBD11 | c.*1260G>C | - | 3-UTRSNV | 2/2 | - |
X-19378090-G-T | PDHA1 | c.*319G>T | - | 3-UTRSNV | 11/11 | - |
20-60776473-G-T | MTG2 | c.*340G>T | - | 3-UTRSNV | 7/7 | - |
9-32526146-G-A | DDX58 | c.19C>T | p.Arg7Cys | Missense | 1/18 | - |
14-77843384-G-T | TMED8 | c.13C>A | p.Gln5Lys | Missense | 1/6 | - |
14-64988830-C-A | ZBTB1 | c.608C>A | p.Thr203Asn | Missense | 2/2 | - |
19-21950302-C-T | ZNF100 | c.1-71G>A | - | 5-UTRSNV | 1/5 | - |
17-57280952-A-G | PRR11 | c.*1960A>G | - | 3-UTRSNV | 10/10 | - |
11-60161378-T-C | MS4A7 | c.*44T>C | - | 3-UTRSNV | 7/7 | - |
6-11185161-C-T | NEDD9 | c.*234G>A | - | 3-UTRSNV | 7/7 | - |
X-19378499-C-T | PDHA1 | c.*728C>T | - | 3-UTRSNV | 11/11 | - |
10-26463130-C-T | MYO3A | c.3937C>T | p.Arg1313Cys | Missense | 30/35 | - |
13-24880063-T-G | SPATA13 | c.*3152T>G | - | 3-UTRSNV | 12/12 | - |
10-26463130-C-A | MYO3A | c.3937C>A | p.Arg1313Ser | Missense | 30/35 | - |
7-112406485-G-A | TMEM168 | c.*767C>T | - | 3-UTRSNV | 5/5 | - |
15-45661678-T-A | GATM | c.330A>T | p.Gln110His | Missense | 3/9 | - |
15-45661678-T-G | GATM | c.330A>C | p.Gln110His | Missense | 3/9 | - |
4-101945139-T-G | PPP3CA | c.*1883A>C | - | 3-UTRSNV | 14/14 | - |
22-51017476-A-C | CHKB | c.*134T>G | - | 3-UTRSNV | 11/11 | - |
22-51017476-A-G | CHKB | c.*134T>C | - | 3-UTRSNV | 11/11 | - |
11-22647366-G-T | FANCF | c.1-10C>A | - | 5-UTRSNV | 1/1 | - |
20-37551185-C-T | PPP1R16B | c.*3876C>T | - | 3-UTRSNV | 11/11 | - |
21-47676711-G-A | MCM3AP | c.3924C>T | p.Ser1308Ser | Synonymous | 17/28 | - |
16-30544061-G-A | ZNF747 | c.*319C>T | - | 3-UTRSNV | 2/2 | - |
12-4921228-T-C | KCNA6 | c.*431T>C | - | 3-UTRSNV | 1/2 | - |
11-78189653-T-C | NARS2 | c.899A>G | p.Lys300Arg | Missense | 8/14 | - |
2-5837271-T-C | SOX11 | c.*3092T>C | - | 3-UTRSNV | 1/1 | - |
11-123596055-C-T | ZNF202 | c.*650G>A | - | 3-UTRSNV | 9/9 | - |
1-171483717-A-C | PRRC2C | c.327A>C | p.Ala109Ala | Synonymous | 4/34 | - |
22-51017476-A-T | CHKB | c.*134T>A | - | 3-UTRSNV | 11/11 | - |
11-22647366-G-C | FANCF | c.1-10C>G | - | 5-UTRSNV | 1/1 | - |
11-22647366-G-A | FANCF | c.1-10C>T | - | 5-UTRSNV | 1/1 | - |
11-10534555-A-C | RNF141 | c.*1908T>G | - | 3-UTRSNV | 6/6 | - |
19-54378099-G-C | MYADM | c.*347G>C | - | 3-UTRSNV | 3/3 | - |
4-3174851-A-G | HTT | c.4159A>G | p.Thr1387Ala | Missense | 31/67 | - |
22-41830874-C-T | TOB2 | c.*1441G>A | - | 3-UTRSNV | 2/2 | - |
7-101927099-C-A | CUX1 | c.*717C>A | - | 3-UTRSNV | 23/23 | - |
17-29861523-C-T | RAB11FIP4 | c.*2773C>T | - | 3-UTRSNV | 15/15 | - |
17-60758273-G-T | MRC2 | c.2586G>T | p.Ser862Ser | Synonymous | 17/30 | - |
17-60758273-G-C | MRC2 | c.2586G>C | p.Ser862Ser | Synonymous | 17/30 | - |
1-157543762-C-T | FCRL4 | c.*1552G>A | - | 3-UTRSNV | 12/12 | - |
13-21728320-A-T | SKA3 | c.*969T>A | - | 3-UTRSNV | 9/9 | - |
15-83735926-C-G | BTBD1 | c.1-23G>C | - | 5-UTRSNV | 1/7 | - |
15-83735926-C-A | BTBD1 | c.1-23G>T | - | 5-UTRSNV | 1/7 | - |
9-732536-T-C | KANK1 | c.3164T>C | p.Ile1055Thr | Missense | 6/12 | - |
7-37990917-A-T | EPDR1 | c.*919A>T | - | 3-UTRSNV | 3/3 | - |
13-21728320-A-G | SKA3 | c.*969T>C | - | 3-UTRSNV | 9/9 | - |
1-179324028-G-A | SOAT1 | c.*1252G>A | - | 3-UTRSNV | 16/16 | - |
14-74185345-C-G | ELMSAN1 | c.*659G>C | - | 3-UTRSNV | 12/12 | - |
1-179324028-G-T | SOAT1 | c.*1252G>T | - | 3-UTRSNV | 16/16 | - |
16-88901673-G-A | GALNS | c.846C>T | p.Phe282Phe | Synonymous | 8/14 | - |
1-157545047-A-G | FCRL4 | c.*267T>C | - | 3-UTRSNV | 12/12 | - |
16-57068107-C-G | NLRC5 | c.2571C>G | p.His857Gln | Missense | 12/48 | - |
16-57068107-C-T | NLRC5 | c.2571C>T | p.His857His | Synonymous | 12/48 | - |
6-158924595-A-G | TULP4 | c.3900A>G | p.Gln1300Gln | Synonymous | 13/14 | - |
16-67867739-G-T | CENPT | c.24C>A | p.Ser8Arg | Missense | 4/16 | - |
1-19665497-A-C | CAPZB | c.*625T>G | - | 3_prime_UTR_variant | 10/10 | - |
6-32816772-C-G | TAP1 | c.1552G>C | p.Val518Leu | Missense | 6/11 | - |
1-171711152-A-C | VAMP4 | c.-152T>G | - | 5_prime_UTR_variant | 1/8 | - |
20-826513-C-G | FAM110A | c.*178C>G | - | 3-UTRSNV | 1/1 | - |
6-32816772-C-A | TAP1 | c.1552G>T | p.Val518Leu | Missense | 6/11 | - |
22-35815880-G-A | MCM5 | c.1707G>A | p.Lys569Lys | Synonymous | 14/17 | - |
1-158150847-G-A | CD1D | c.1-45G>A | - | 5-UTRSNV | 2/7 | - |
12-50157053-C-A | TMBIM6 | c.*374C>A | - | 3-UTRSNV | 10/10 | - |
12-50157053-C-T | TMBIM6 | c.*374C>T | - | 3-UTRSNV | 10/10 | - |
13-30779889-G-T | KATNAL1 | c.*2788C>A | - | 3-UTRSNV | 11/11 | - |
19-1852582-A-C | KLF16 | c.*1876T>G | - | 3-UTRSNV | 2/2 | - |
8-87439926-C-G | WWP1 | c.1212C>G | p.Thr404Thr | Synonymous | 11/25 | - |
6-31599594-A-G | PRRC2A | c.3144A>G | p.Gly1048Gly | Synonymous | 16/31 | - |
6-96055016-G-T | MANEA | c.*735G>T | - | 3-UTRSNV | 5/5 | - |
4-187113041-C-G | CYP4V2 | c.64C>G | p.Leu22Val | Missense | 1/11 | - |
12-4921301-T-C | KCNA6 | c.*504T>C | - | 3-UTRSNV | 1/2 | - |
1-154555733-A-T | ADAR | c.*1549T>A | - | 3-UTRSNV | 15/15 | - |
19-6755155-T-G | SH2D3A | c.668A>C | p.Asp223Ala | Missense | 5/10 | - |
12-96259973-A-G | SNRPF | c.*124A>G | - | 3-UTRSNV | 4/4 | - |
8-120847123-C-T | DSCC1 | c.*10G>A | - | 3-UTRSNV | 9/9 | - |
13-48650492-A-G | MED4 | c.*783T>C | - | 3-UTRSNV | 7/7 | - |
1-15905501-G-T | AGMAT | c.573C>A | p.Thr191Thr | Synonymous | 4/7 | - |
1-15905501-G-A | AGMAT | c.573C>T | p.Thr191Thr | Synonymous | 4/7 | - |
5-42801268-C-A | CCDC152 | c.*1385C>A | - | 3-UTRSNV | 9/9 | - |
1-171454777-C-T | PRRC2C | c.-155C>T | - | 5_prime_UTR_variant | 1/34 | - |
1-59246581-T-C | JUN | c.*1166A>G | - | 3-UTRSNV | 1/1 | - |
1-26796251-C-T | DHDDS | c.*629C>T | - | 3-UTRSNV | 9/9 | - |
19-1852582-A-G | KLF16 | c.*1876T>C | - | 3-UTRSNV | 2/2 | - |
6-31599594-A-T | PRRC2A | c.3144A>T | p.Gly1048Gly | Synonymous | 16/31 | - |
6-96055016-G-A | MANEA | c.*735G>A | - | 3-UTRSNV | 5/5 | - |
16-31422429-T-A | ITGAD | c.1389T>A | p.Ser463Ser | Synonymous | 13/30 | - |
5-150584981-C-A | CCDC69 | c.104G>T | p.Gly35Val | Missense | 2/9 | - |
9-114982937-C-T | PTBP3 | c.*3194G>A | - | 3-UTRSNV | 14/14 | - |
12-72312268-G-A | TBC1D15 | c.1590G>A | p.Arg530Arg | Synonymous | 15/18 | - |
X-76937963-G-C | ATRX | c.2785C>G | p.Gln929Glu | Missense | 9/35 | - |
5-42801268-C-T | CCDC152 | c.*1385C>T | - | 3-UTRSNV | 9/9 | - |
17-73467897-A-T | TMEM94 | c.1-90A>T | - | 5-UTRSNV | 2/32 | - |
1-171454777-C-G | PRRC2C | c.-155C>G | - | 5_prime_UTR_variant | 1/34 | - |
1-171454777-C-A | PRRC2C | c.-155C>A | - | 5_prime_UTR_variant | 1/34 | - |
3-195965318-G-A | PCYT1A | c.*241C>T | - | 3-UTRSNV | 10/10 | - |
3-195965318-G-C | PCYT1A | c.*241C>G | - | 3-UTRSNV | 10/10 | - |
3-195965318-G-T | PCYT1A | c.*241C>A | - | 3-UTRSNV | 10/10 | - |
5-139624864-T-C | PFDN1 | c.*695A>G | - | 3-UTRSNV | 4/4 | - |
6-153304588-C-G | FBXO5 | c.-255G>C | - | 5_prime_UTR_variant | 1/5 | - |
6-153304588-C-T | FBXO5 | c.-255G>A | - | 5_prime_UTR_variant | 1/5 | - |
4-38969035-C-A | TMEM156 | c.*266G>T | - | 3_prime_UTR_variant | 7/7 | - |
3-48311159-A-C | ZNF589 | c.*883A>C | - | 3-UTRSNV | 4/4 | - |
5-145543972-G-A | LARS | c.495C>T | p.Gly165Gly | Synonymous | 6/32 | - |
9-130552915-A-G | CDK9 | c.*1093A>G | - | 3-UTRSNV | 7/7 | - |
2-99778735-A-G | LIPT1 | c.315A>G | p.Thr105Thr | Synonymous | 3/3 | - |
18-2925359-C-T | LPIN2 | c.1801G>A | p.Glu601Lys | Missense | 14/20 | - |
4-186321282-C-T | UFSP2 | c.*264G>A | - | 3-UTRSNV | 12/12 | - |
14-77935659-G-A | AHSA1 | c.*67G>A | - | 3-UTRSNV | 9/9 | - |
16-723838-C-A | RHOT2 | c.*232C>A | - | 3-UTRSNV | 19/19 | - |
17-2587326-G-C | PAFAH1B1 | c.*2230G>C | - | 3-UTRSNV | 11/11 | - |
7-30406471-A-G | ZNRF2 | c.*843A>G | - | 3_prime_UTR_variant | 5/5 | - |
12-93896315-G-A | MRPL42 | c.*1318G>A | - | 3-UTRSNV | 6/6 | - |
1-87380631-C-T | HS2ST1 | c.1-89C>T | - | 5-UTRSNV | 1/7 | - |
5-147024476-C-A | JAKMIP2 | c.1020G>T | p.Leu340Leu | Synonymous | 6/21 | - |
2-98330052-C-G | ZAP70 | c.-186C>G | - | 5_prime_UTR_variant | 1/14 | - |
2-98330052-C-A | ZAP70 | c.-186C>A | - | 5_prime_UTR_variant | 1/14 | - |
19-20828522-A-G | ZNF626 | c.194T>C | p.Met65Thr | Missense | 3/4 | - |
11-88027209-T-G | CTSC | c.1357A>C | p.Ile453Leu | Missense | 7/7 | - |
22-31500536-G-A | SMTN | c.*84G>A | - | 3-UTRSNV | 21/21 | - |
X-71792573-CGA-AAC | HDAC8 | c.37_39delTCGinsAAC | p.Ser13Asn | Missense | 1/11 | - |
1-33149169-C-T | RBBP4 | c.*3863C>T | - | 3-UTRSNV | 12/12 | - |
16-84778685-A-G | USP10 | c.610A>G | p.Met204Val | Missense | 5/15 | - |
16-2114407-C-T | TSC2 | c.1578C>T | p.Ser526Ser | Synonymous | 15/42 | - |
7-43647879-C-G | STK17A | c.444C>G | p.Asp148Glu | Missense | 3/7 | - |
22-30416527-A-G | MTMR3 | c.2879A>G | p.Asn960Ser | Missense | 17/20 | - |
5-43175369-G-T | ZNF131 | c.*134G>T | - | 3-UTRSNV | 8/8 | - |
19-20003109-A-G | ZNF253 | c.1053A>G | p.Leu351Leu | Synonymous | 4/4 | - |
19-58490929-T-C | ZNF606 | c.1119A>G | p.Lys373Lys | Synonymous | 7/7 | - |
5-147822135-T-G | FBXO38 | c.*425T>G | - | 3-UTRSNV | 22/22 | - |
12-8672855-TC-AA | CLEC4D | c.418_419delTCinsAA | p.Ser140Asn | Missense | 5/6 | - |
1-235273194-T-G | TOMM20 | c.*2185A>C | - | 3-UTRSNV | 5/5 | - |
17-76138158-G-C | TMC8 | c.*965G>C | - | 3-UTRSNV | 16/16 | - |
6-408833-G-C | IRF4 | c.*1235G>C | - | 3-UTRSNV | 9/9 | - |
12-113735742-G-C | TPCN1 | c.*1861G>C | - | 3-UTRSNV | 28/28 | - |
7-90896831-T-C | FZD1 | c.*692T>C | - | 3-UTRSNV | 1/1 | - |
4-185650154-G-C | CENPU | c.132C>G | p.Phe44Leu | Missense | 3/13 | - |
4-185650154-G-A | CENPU | c.132C>T | p.Phe44Phe | Synonymous | 3/13 | - |
19-10754814-G-C | SLC44A2 | c.*753G>C | - | 3-UTRSNV | 22/22 | - |
X-54591228-G-C | GNL3L | c.*4193G>C | - | 3-UTRSNV | 16/16 | - |
X-54591228-G-A | GNL3L | c.*4193G>A | - | 3-UTRSNV | 16/16 | - |
17-40466438-T-C | STAT3 | c.*1325A>G | - | 3-UTRSNV | 24/24 | - |
16-1682281-A-G | CRAMP1 | c.609A>G | p.Ala203Ala | Synonymous | 4/21 | - |
9-136334886-G-A | CACFD1 | c.*1111G>A | - | 3-UTRSNV | 5/5 | - |
1-228505204-G-A | OBSCN | c.13601G>A | p.Arg4534His | Missense | 52/81 | - |
2-100210642-T-C | AFF3 | c.1481A>G | p.Asn494Ser | Missense | 14/24 | - |
16-2131755-C-T | TSC2 | c.3770C>T | p.Ala1257Val | Missense | 31/42 | - |
3-52570765-G-C | SMIM4 | c.1-7G>C | - | 5-UTRSNV | 1/2 | - |
22-36060437-G-T | APOL6 | c.*4794G>T | - | 3-UTRSNV | 3/3 | - |
12-109886603-G-A | KCTD10 | c.*2797C>T | - | 3-UTRSNV | 7/7 | - |
7-29960804-C-T | SCRN1 | c.*2769G>A | - | 3-UTRSNV | 8/8 | - |
2-168931636-C-T | STK39 | c.1195G>A | p.Ala399Thr | Missense | 11/18 | - |
22-36060437-G-C | APOL6 | c.*4794G>C | - | 3-UTRSNV | 3/3 | - |
22-36060437-G-A | APOL6 | c.*4794G>A | - | 3-UTRSNV | 3/3 | - |
5-36985303-A-G | NIPBL | c.2021A>G | p.Asn674Ser | Missense | 10/46 | - |
11-134021477-G-T | NCAPD3 | c.*1362C>A | - | IntergenicSNV | 35/35 | - |
11-134021477-G-A | NCAPD3 | c.*1362C>T | - | IntergenicSNV | 35/35 | - |
10-62545777-G-A | CDK1 | c.318+232G>A | - | IntronicSNV | - | 4/7 |
10-62545777-G-T | CDK1 | c.318+232G>T | - | IntronicSNV | - | 4/7 |
12-121442241-C-T | C12orf43 | c.504G>A | p.Ala168Ala | Synonymous | 6/6 | - |
2-65313758-G-C | CEP68 | c.*2990G>C | - | 3_prime_UTR_variant | 7/7 | - |
11-59342178-T-C | OSBP | c.*1872A>G | - | 3-UTRSNV | 14/14 | - |
22-45923827-A-C | FBLN1 | c.422A>C | p.Gln141Pro | Missense | 4/17 | - |
22-45923827-A-G | FBLN1 | c.422A>G | p.Gln141Arg | Missense | 4/17 | - |
14-103194998-A-G | RCOR1 | c.*2155A>G | - | 3-UTRSNV | 12/12 | - |
9-116025428-A-C | SLC31A1 | c.*2675A>C | - | 3-UTRSNV | 5/5 | - |
3-67059313-G-A | KBTBD8 | c.*504G>A | - | 3-UTRSNV | 4/4 | - |
6-88850963-G-A | CNR1 | c.*2612C>T | - | 3-UTRSNV | 3/3 | - |
16-27375889-C-T | IL4R | c.*738C>T | - | 3-UTRSNV | 11/11 | - |
20-18725117-G-A | DTD1 | c.*221G>A | - | IntronicSNV | 6/6 | - |
22-45923827-A-T | FBLN1 | c.422A>T | p.Gln141Leu | Missense | 4/17 | - |
22-26866723-C-T | HPS4 | c.558G>A | p.Ser186Ser | Synonymous | 7/14 | - |
11-290891-T-C | PGGHG | c.684T>C | p.Tyr228Tyr | Synonymous | 4/14 | - |
12-105534790-T-C | WASHC4 | c.1674T>C | p.Ile558Ile | Synonymous | 17/33 | - |
21-45220483-A-G | RRP1 | c.977A>G | p.Lys326Arg | Missense | 10/13 | - |
9-15459821-A-C | SNAPC3 | c.1193A>C | p.Glu398Ala | Missense | 9/9 | - |
6-88850963-G-T | CNR1 | c.*2612C>A | - | 3-UTRSNV | 3/3 | - |
9-72968038-A-G | SMC5 | c.*791A>G | - | 3-UTRSNV | 25/25 | - |
18-44681485-A-G | IER3IP1 | c.*1063T>C | - | 3-UTRSNV | 3/3 | - |
3-15080696-G-A | NR2C2 | c.1635G>A | p.Gln545Gln | Synonymous | 14/15 | - |
1-197112533-G-A | ASPM | c.849C>T | p.Ser283Ser | Synonymous | 3/28 | - |
7-91503228-C-G | MTERF1 | c.880G>C | p.Ala294Pro | Missense | 3/3 | - |
14-65542477-A-G | MAX | c.171+17949T>C | - | IntronicSNV | - | 3/3 |
12-105155291-G-A | CHST11 | c.*3710G>A | - | 3-UTRSNV | 3/3 | - |
6-26370748-G-A | BTN3A2 | c.632G>A | p.Arg211Lys | Missense | 3/9 | - |
20-60768615-G-C | MTG2 | c.139G>C | p.Gly47Arg | Missense | 2/7 | - |
20-60768615-G-T | MTG2 | c.139G>T | p.Gly47Cys | Missense | 2/7 | - |
3-196460680-C-T | PIGX | c.684C>T | p.Thr228Thr | Synonymous | 6/6 | - |
19-54376770-C-T | MYADM | c.1-14C>T | - | IntronicSNV | 2/3 | - |
13-114149676-A-G | TMCO3 | c.1-221A>G | - | IntronicSNV | 1/13 | - |
2-30864313-T-C | LCLAT1 | c.*828T>C | - | 3-UTRSNV | 7/7 | - |
12-82752543-T-G | METTL25 | c.199T>G | p.Ser67Ala | Missense | 1/12 | - |
16-88781082-C-T | CTU2 | c.1289C>T | p.Pro430Leu | Missense | 12/14 | - |
7-29960519-C-A | SCRN1 | c.*3054G>T | - | 3-UTRSNV | 8/8 | - |
8-42878917-C-T | HOOK3 | c.*5276C>T | - | 3-UTRSNV | 22/22 | - |
4-113363361-G-T | ALPK1 | c.*995G>T | - | 3-UTRSNV | 16/16 | - |
8-42873747-A-C | HOOK3 | c.*106A>C | - | 3-UTRSNV | 22/22 | - |
8-42873747-A-G | HOOK3 | c.*106A>G | - | 3-UTRSNV | 22/22 | - |
19-33873435-T-G | CEBPG | c.*2837T>G | - | 3-UTRSNV | 2/2 | - |
19-33873435-T-C | CEBPG | c.*2837T>C | - | 3-UTRSNV | 2/2 | - |
19-32877259-T-C | ZNF507 | c.*3270T>C | - | 3-UTRSNV | 6/6 | - |
6-101306502-C-G | ASCC3 | c.241+5438G>C | - | IntronicSNV | - | 3/41 |
6-101306502-C-A | ASCC3 | c.241+5438G>T | - | IntronicSNV | - | 3/41 |
10-127429604-C-T | EDRF1 | c.2103C>T | p.Ser701Ser | Synonymous | 16/24 | - |
10-127429604-C-G | EDRF1 | c.2103C>G | p.Ser701Ser | Synonymous | 16/24 | - |
3-197432036-C-T | RUBCN | c.50G>A | p.Arg17His | Missense | 3/21 | - |
7-96339061-C-T | SEM1 | c.15G>A | p.Lys5Lys | Synonymous | 1/3 | - |
3-49762691-A-C | IP6K1 | c.*1864T>G | - | 3-UTRSNV | 6/6 | - |
1-167674653-C-G | RCSD1 | c.*720C>G | - | 3-UTRSNV | 7/7 | - |
15-73052845-A-G | ADPGK | c.546T>C | p.Gly182Gly | Synonymous | 4/7 | - |
1-175126845-T-C | KIAA0040 | c.*3005A>G | - | 3-UTRSNV | 4/4 | - |
3-160154971-T-C | TRIM59 | c.*789A>G | - | 3-UTRSNV | 3/3 | - |
17-61773158-A-G | MAP3K3 | c.*2021A>G | - | 3-UTRSNV | 16/16 | - |
1-64643277-C-T | ROR1 | c.1553C>T | p.Thr518Met | Missense | 9/9 | - |
1-64643277-C-A | ROR1 | c.1553C>A | p.Thr518Lys | Missense | 9/9 | - |
X-19379165-C-T | PDHA1 | c.*1394C>T | - | 3-UTRSNV | 11/11 | - |
20-50803459-C-G | ZFP64 | c.198G>C | p.Thr66Thr | Synonymous | 2/6 | - |
6-101306502-C-T | ASCC3 | c.241+5438G>A | - | IntronicSNV | - | 3/41 |
10-50732280-C-T | ERCC6 | c.1196G>A | p.Gly399Asp | Missense | 5/21 | - |
20-47261017-T-C | PREX1 | c.3531A>G | p.Arg1177Arg | Synonymous | 27/40 | - |
3-15086252-C-T | NR2C2 | c.*1737C>T | - | 3-UTRSNV | 15/15 | - |
7-96339061-C-G | SEM1 | c.15G>C | p.Lys5Asn | Missense | 1/3 | - |
10-72640041-A-C | SGPL1 | c.*2949A>C | - | 3-UTRSNV | 15/15 | - |
10-72640041-A-T | SGPL1 | c.*2949A>T | - | 3-UTRSNV | 15/15 | - |
1-167674653-C-T | RCSD1 | c.*720C>T | - | 3-UTRSNV | 7/7 | - |
20-60768615-G-A | MTG2 | c.139G>A | p.Gly47Ser | Missense | 2/7 | - |
4-80994124-C-T | ANTXR2 | c.1-410G>A | - | 5-UTRSNV | 1/17 | - |
22-32111197-C-G | PRR14L | c.2628G>C | p.Met876Ile | Missense | 4/9 | - |
1-29442291-C-G | EPB41 | c.1908C>G | p.Thr636Thr | Synonymous | 20/21 | - |
1-29442291-C-T | EPB41 | c.1908C>T | p.Thr636Thr | Synonymous | 20/21 | - |
2-11965342-G-A | LPIN1 | c.*425G>A | - | 3-UTRSNV | 20/20 | - |
17-34415763-G-T | CCL3 | c.*255C>A | - | 3-UTRSNV | 3/3 | - |
17-71232990-C-A | C17orf80 | c.1369C>A | p.Arg457Ser | Missense | 3/6 | - |
17-34415763-G-C | CCL3 | c.*255C>G | - | 3-UTRSNV | 3/3 | - |
20-4833623-G-C | SLC23A2 | c.*3995C>G | - | 3-UTRSNV | 17/17 | - |
10-81074248-C-T | ZMIZ1 | c.*1742C>T | - | 3-UTRSNV | 25/25 | - |
5-169435713-A-C | DOCK2 | c.3195A>C | p.Leu1065Leu | Synonymous | 32/52 | - |
16-15131962-A-G | PDXDC1 | c.*1830A>G | - | IntergenicSNV | 23/23 | - |
11-65380916-G-A | MAP3K11 | c.312C>T | p.Gly104Gly | Synonymous | 1/10 | - |
16-633125-T-C | PIGQ | c.*90T>C | - | 3-UTRSNV | 11/11 | - |
10-26463043-A-T | MYO3A | c.3850A>T | p.Thr1284Ser | Missense | 30/35 | - |
16-839084-A-C | CHTF18 | c.245A>C | p.Gln82Pro | Missense | 2/22 | - |
16-71961906-A-G | IST1 | c.*204A>G | - | 3-UTRSNV | 10/10 | - |
12-82752543-T-A | METTL25 | c.199T>A | p.Ser67Thr | Missense | 1/12 | - |
6-26405835-G-A | BTN3A1 | c.44G>A | p.Arg15His | Missense | 2/10 | - |
1-114936079-T-A | TRIM33 | c.*4191A>T | - | 3-UTRSNV | 20/20 | - |
11-130058047-A-G | ST14 | c.120A>G | p.Pro40Pro | Synonymous | 2/19 | - |
19-58489487-T-C | ZNF606 | c.*182A>G | - | 3-UTRSNV | 7/7 | - |
20-24952147-G-C | APMAP | c.487C>G | p.Leu163Val | Missense | 5/9 | - |
20-24952147-G-A | APMAP | c.487C>T | p.Leu163Phe | Missense | 5/9 | - |
22-38051355-G-C | SH3BP1 | c.1770G>C | p.Pro590Pro | Synonymous | 18/18 | - |
16-81946260-C-T | PLCG2 | c.1993C>T | p.Arg665Trp | Missense | 19/33 | - |
17-16325968-A-G | TRPV2 | c.390A>G | p.Gly130Gly | Synonymous | 4/15 | - |
22-36055994-T-A | APOL6 | c.*351T>A | - | 3-UTRSNV | 3/3 | - |
13-75859948-C-A | TBC1D4 | c.*980G>T | - | 3-UTRSNV | 21/21 | - |
11-6634659-C-T | TPP1 | c.*1118G>A | - | 3-UTRSNV | 13/13 | - |
7-148952247-C-T | ZNF212 | c.*741C>T | - | 3-UTRSNV | 5/5 | - |
2-234749354-G-A | HJURP | c.2072C>T | p.Ser691Phe | Missense | 8/9 | - |
1-180000542-G-T | CEP350 | c.3638G>T | p.Gly1213Val | Missense | 15/38 | - |
1-101704496-T-C | S1PR1 | c.1-45T>C | - | 5-UTRSNV | 2/2 | - |
9-72969545-A-C | SMC5 | c.*2298A>C | - | 3-UTRSNV | 25/25 | - |
16-15130351-G-A | PDXDC1 | c.*219G>A | - | 3-UTRSNV | 23/23 | - |
11-130068491-G-C | ST14 | c.1659G>C | p.Gly553Gly | Synonymous | 14/19 | - |
14-65543102-C-G | MAX | c.171+17324G>C | - | IntronicSNV | - | 3/3 |
7-43664198-A-G | STK17A | c.1002A>G | p.Glu334Glu | Synonymous | 7/7 | - |
9-130703719-T-G | FAM102A | c.*1752A>C | - | 3-UTRSNV | 11/11 | - |
2-31489826-G-A | EHD3 | c.*256G>A | - | 3-UTRSNV | 6/6 | - |
2-31489826-G-C | EHD3 | c.*256G>C | - | 3-UTRSNV | 6/6 | - |
11-134019112-G-T | JAM3 | c.*36G>T | - | 3-UTRSNV | 9/9 | - |
17-73823720-G-A | UNC13D | c.*326C>T | - | 3-UTRSNV | 32/32 | - |
3-107881138-T-A | IFT57 | c.*186A>T | - | 3-UTRSNV | 11/11 | - |
1-167759751-C-T | MPZL1 | c.*2670C>T | - | 3-UTRSNV | 5/5 | - |
2-85628745-C-T | CAPG | c.258G>A | p.Thr86Thr | Synonymous | 4/10 | - |
3-58280089-G-A | ABHD6 | c.*597G>A | - | 3-UTRSNV | 9/9 | - |
11-6634659-C-G | TPP1 | c.*1118G>C | - | 3-UTRSNV | 13/13 | - |
19-38697054-G-A | SIPA1L3 | c.*174G>A | - | 3-UTRSNV | 22/22 | - |
16-50342658-C-T | ADCY7 | c.2016C>T | p.Ala672Ala | Synonymous | 17/26 | - |
1-156105028-T-C | LMNA | c.861T>C | p.Ala287Ala | Synonymous | 5/12 | - |
19-16990307-G-A | SIN3B | c.*769G>A | - | 3-UTRSNV | 20/20 | - |
2-150443660-A-G | MMADHC | c.1-49T>C | - | 5-UTRSNV | 2/8 | - |
20-17602571-A-C | RRBP1 | c.1870T>G | p.Cys624Gly | Missense | 15/26 | - |
20-17602571-A-G | RRBP1 | c.1870T>C | p.Cys624Arg | Missense | 15/26 | - |
16-633843-A-G | PIGQ | c.*808A>G | - | 3-UTRSNV | 11/11 | - |
20-4837063-A-G | SLC23A2 | c.*555T>C | - | 3-UTRSNV | 17/17 | - |
14-65543102-C-T | MAX | c.171+17324G>A | - | IntronicSNV | - | 3/3 |
20-20350516-T-G | INSM1 | c.*72T>G | - | 3-UTRSNV | 1/1 | - |
6-33048255-G-C | HLA-DPB1 | c.101-194G>C | - | IntronicSNV | - | 1/5 |
4-2948203-G-A | NOP14 | c.1571C>T | p.Ala524Val | Missense | 11/19 | - |
18-43845377-T-C | C18orf25 | c.*2296T>C | - | 3-UTRSNV | 5/5 | - |
5-38941278-G-A | RICTOR | c.*1128C>T | - | 3-UTRSNV | 38/38 | - |
3-194308934-C-T | TMEM44 | c.*324G>A | - | 3-UTRSNV | 11/11 | - |
19-19049194-G-A | HOMER3 | c.271C>T | p.Leu91Leu | Synonymous | 4/10 | - |
1-19583636-C-T | MRTO4 | c.270C>T | p.His90His | Synonymous | 4/8 | - |
19-21907988-C-T | ZNF100 | c.*1497G>A | - | 3-UTRSNV | 5/5 | - |
19-21907988-C-A | ZNF100 | c.*1497G>T | - | 3-UTRSNV | 5/5 | - |
7-142563253-T-A | EPHB6 | c.94T>A | p.Ser32Thr | Missense | 7/19 | - |
7-142563253-T-G | EPHB6 | c.94T>G | p.Ser32Ala | Missense | 7/19 | - |
1-150337289-G-T | RPRD2 | c.99G>T | p.Ser33Ser | Synonymous | 1/11 | - |
12-8671641-C-T | CLEC4D | c.269C>T | p.Ala90Val | Missense | 4/6 | - |
16-23400194-G-A | COG7 | c.*47C>T | - | 3-UTRSNV | 17/17 | - |
16-88880195-T-C | GALNS | c.*652A>G | - | 3-UTRSNV | 14/14 | - |
22-30221120-C-T | ASCC2 | c.367G>A | p.Val123Ile | Missense | 4/20 | - |
14-51224289-C-T | NIN | c.3459G>A | p.Arg1153Arg | Synonymous | 18/30 | - |
5-145668041-C-A | RBM27 | c.*2448C>A | - | 3-UTRSNV | 21/21 | - |
3-136667405-T-C | NCK1 | c.*110T>C | - | 3-UTRSNV | 4/4 | - |
8-103219084-T-C | RRM2B | c.*1277A>G | - | 3-UTRSNV | 9/9 | - |
20-16710791-G-T | SNRPB2 | c.-54G>T | - | 5_prime_UTR_variant | 1/7 | - |
19-50312653-C-T | FUZ | c.672G>A | p.Leu224Leu | Synonymous | 6/11 | - |
6-29523676-C-T | UBD | c.479G>A | p.Cys160Tyr | Missense | 2/2 | - |
1-149856350-C-T | HIST2H2BE | c.*1460G>A | - | 3-UTRSNV | 1/1 | - |
1-15904318-C-T | AGMAT | c.762G>A | p.Ser254Ser | Synonymous | 5/7 | - |
11-125453890-C-T | EI24 | c.*312C>T | - | 3_prime_UTR_variant | 12/12 | - |
14-74184530-A-G | ELMSAN1 | c.*1474T>C | - | 3-UTRSNV | 12/12 | - |
21-47685317-G-C | MCM3AP | c.3152C>G | p.Pro1051Arg | Missense | 12/28 | - |
20-4835415-C-G | SLC23A2 | c.*2203G>C | - | 3-UTRSNV | 17/17 | - |
14-32328508-G-A | NUBPL | c.*122G>A | - | 3-UTRSNV | 11/11 | - |
14-32328508-G-C | NUBPL | c.*122G>C | - | 3-UTRSNV | 11/11 | - |
9-115806006-A-G | ZFP37 | c.892T>C | p.Cys298Arg | Missense | 4/4 | - |
20-42697651-G-C | TOX2 | c.*325G>C | - | 3-UTRSNV | 9/9 | - |
19-52795158-C-A | ZNF766 | c.*707C>A | - | 3-UTRSNV | 4/4 | - |
16-2125834-T-G | TSC2 | c.2580T>G | p.Phe860Leu | Missense | 23/42 | - |
1-211836789-T-C | NEK2 | c.1317A>G | p.Arg439Arg | Synonymous | 8/8 | - |
9-140112447-C-T | NDOR1 | c.*1579C>T | - | 3-UTRSNV | 14/14 | - |
3-120045966-T-C | LRRC58 | c.*4081A>G | - | 3-UTRSNV | 4/4 | - |
10-3207705-G-C | PITRM1 | c.433C>G | p.Leu145Val | Missense | 5/27 | - |
7-1580904-T-C | MAFK | c.*893T>C | - | 3-UTRSNV | 3/3 | - |
8-86027418-A-G | LRRCC1 | c.628A>G | p.Thr210Ala | Missense | 5/19 | - |
20-4835415-C-A | SLC23A2 | c.*2203G>T | - | 3-UTRSNV | 17/17 | - |
1-24796069-A-C | NIPAL3 | c.*394A>C | - | 3-UTRSNV | 12/12 | - |
19-54379585-G-A | MYADM | c.*1833G>A | - | 3-UTRSNV | 3/3 | - |
20-42697651-G-T | TOX2 | c.*325G>T | - | 3-UTRSNV | 9/9 | - |
1-1597020-C-G | SLC35E2B | c.*201G>C | - | 3-UTRSNV | 9/9 | - |
16-2125834-T-C | TSC2 | c.2580T>C | p.Phe860Phe | Synonymous | 23/42 | - |
16-58554780-C-T | CNOT1 | c.*82G>A | - | 3-UTRSNV | 49/49 | - |
17-7220881-C-T | NEURL4 | c.4217G>A | p.Arg1406His | Missense | 27/29 | - |
2-208477479-A-C | METTL21A | c.*291T>G | - | 3-UTRSNV | 4/4 | - |
2-208477479-A-T | METTL21A | c.*291T>A | - | 3-UTRSNV | 4/4 | - |
12-108127273-C-G | PRDM4 | c.*714G>C | - | 3-UTRSNV | 12/12 | - |
12-108127273-C-A | PRDM4 | c.*714G>T | - | 3-UTRSNV | 12/12 | - |
5-141019313-C-T | FCHSD1 | c.*1752G>A | - | 3-UTRSNV | 20/20 | - |
11-94150790-T-C | MRE11 | c.*2501A>G | - | 3-UTRSNV | 20/20 | - |
16-9200728-G-A | C16orf72 | c.583+3612G>A | - | IntronicSNV | - | 3/3 |
10-6275776-T-C | PFKFB3 | c.*871T>C | - | 3-UTRSNV | 15/15 | - |
19-42753034-A-G | ERF | c.1230T>C | p.Ala410Ala | Synonymous | 4/4 | - |
12-74934589-C-A | ATXN7L3B | c.*2403C>A | - | 3-UTRSNV | 1/1 | - |
19-8920629-A-T | ZNF558 | c.*1328T>A | - | 3-UTRSNV | 10/10 | - |
19-8920629-A-G | ZNF558 | c.*1328T>C | - | 3-UTRSNV | 10/10 | - |
19-8920629-A-C | ZNF558 | c.*1328T>G | - | 3-UTRSNV | 10/10 | - |
3-11871215-T-C | TAMM41 | c.535A>G | p.Ile179Val | Missense | 4/7 | - |
10-103899659-A-G | PPRC1 | c.1394A>G | p.Lys465Arg | Missense | 5/14 | - |
3-10168647-T-C | BRK1 | c.*668T>C | - | 3-UTRSNV | 3/3 | - |
3-183207554-T-C | KLHL6 | c.*2161A>G | - | 3-UTRSNV | 7/7 | - |
3-11871215-T-G | TAMM41 | c.535A>C | p.Ile179Leu | Missense | 4/7 | - |
13-77575262-C-T | CLN5 | c.*158C>T | - | 3-UTRSNV | 4/4 | - |
19-20230492-C-T | ZNF90 | c.*323C>T | - | 3-UTRSNV | 4/4 | - |
13-77575262-C-G | CLN5 | c.*158C>G | - | 3-UTRSNV | 4/4 | - |
6-30036471-C-A | PPP1R11 | c.174C>A | p.Ser58Ser | Synonymous | 2/3 | - |
3-10046703-C-T | EMC3 | c.-242+6004G>A | - | intron_variant | - | 1/8 |
1-171483717-A-T | PRRC2C | c.327A>T | p.Ala109Ala | Synonymous | 4/34 | - |
X-12993286-C-T | TMSB4X | c.-18C>T | - | splice_region_variant,5_prime_UTR_variant | 1/3 | - |
5-43294192-C-A | HMGCS1 | c.1149G>T | p.Leu383Leu | Synonymous | 8/11 | - |
16-27373872-A-G | IL4R | c.1199A>G | p.Glu400Gly | Missense | 11/11 | - |
5-43294192-C-T | HMGCS1 | c.1149G>A | p.Leu383Leu | Synonymous | 8/11 | - |
16-27373872-A-T | IL4R | c.1199A>T | p.Glu400Val | Missense | 11/11 | - |
1-175127616-C-G | KIAA0040 | c.*2234G>C | - | 3-UTRSNV | 4/4 | - |
1-175127616-C-T | KIAA0040 | c.*2234G>A | - | 3-UTRSNV | 4/4 | - |
2-98275354-G-A | ACTR1B | c.428C>T | p.Ala143Val | Missense | 5/11 | - |
6-31639845-C-G | LY6G5B | c.392C>G | p.Ser131Cys | Missense | 3/3 | - |
6-31639845-C-T | LY6G5B | c.392C>T | p.Ser131Phe | Missense | 3/3 | - |
19-8921486-T-C | ZNF558 | c.*471A>G | - | 3-UTRSNV | 10/10 | - |
12-4921782-C-G | KCNA6 | c.*985C>G | - | 3-UTRSNV | 1/2 | - |
16-27374927-T-G | IL4R | c.2254T>G | p.Ser752Ala | Missense | 11/11 | - |
12-51637009-T-G | DAZAP2 | c.*767T>G | - | 3-UTRSNV | 4/4 | - |
11-4406483-A-G | TRIM21 | c.*32T>C | - | 3-UTRSNV | 7/7 | - |
1-15896199-G-T | DNAJC16 | c.*1527G>T | - | 3-UTRSNV | 15/15 | - |
7-100804430-C-T | AP1S1 | c.*583C>T | - | 3-UTRSNV | 5/5 | - |
19-32973077-C-T | DPY19L3 | c.2082C>T | p.Tyr694Tyr | Synonymous | 19/19 | - |
11-1297265-G-C | TOLLIP | c.*1004C>G | - | 3-UTRSNV | 6/6 | - |
11-1297265-G-A | TOLLIP | c.*1004C>T | - | 3-UTRSNV | 6/6 | - |
17-7192091-C-T | YBX2 | c.*16G>A | - | 3-UTRSNV | 8/9 | - |
2-206862015-G-A | INO80D | c.*7077C>T | - | 3-UTRSNV | 11/11 | - |
15-75095157-T-G | CSK | c.*303T>G | - | 3-UTRSNV | 13/13 | - |
4-178281754-G-C | NEIL3 | c.1558G>C | p.Gly520Arg | Missense | 9/10 | - |
16-11873158-T-C | ZC3H7A | c.170A>G | p.His57Arg | Missense | 4/23 | - |
15-78461457-A-G | IDH3A | c.*110A>G | - | 3-UTRSNV | 11/11 | - |
14-105862599-C-A | PACS2 | c.*1590C>A | - | 3-UTRSNV | 25/25 | - |
5-137088049-T-C | HNRNPA0 | c.*789A>G | - | 3-UTRSNV | 1/1 | - |
3-196462501-T-C | PIGX | c.*1728T>C | - | 3-UTRSNV | 6/6 | - |
12-62785663-T-C | USP15 | c.2214T>C | p.Ala738Ala | Synonymous | 16/21 | - |
6-32977315-A-T | HLA-DOA | c.1-2T>A | - | 5-UTRSNV | 1/5 | - |
6-32977315-A-G | HLA-DOA | c.1-2T>C | - | 5-UTRSNV | 1/5 | - |
8-1953880-T-C | KBTBD11 | c.*2650T>C | - | 3-UTRSNV | 2/2 | - |
6-30032495-A-G | ZNRD1 | c.*21A>G | - | 3-UTRSNV | 5/5 | - |
2-201436555-A-G | SGO2 | c.1486A>G | p.Ile496Val | Missense | 7/9 | - |
22-32783904-T-C | RTCB | c.*75A>G | - | 3-UTRSNV | 12/12 | - |
3-196662696-T-G | NCBP2 | c.*1186A>C | - | 3-UTRSNV | 4/4 | - |
17-44248848-G-C | KANSL1 | c.662C>G | p.Thr221Ser | Missense | 2/15 | - |
17-44248848-G-A | KANSL1 | c.662C>T | p.Thr221Ile | Missense | 2/15 | - |
6-143823112-G-A | FUCA2 | c.1111C>T | p.His371Tyr | Missense | 5/7 | - |
3-122292124-A-G | DTX3L | c.*1530A>G | - | 3-UTRSNV | 5/5 | - |
10-72640041-A-G | SGPL1 | c.*2949A>G | - | 3-UTRSNV | 15/15 | - |
7-102093171-G-A | ORAI2 | c.*5672G>A | - | 3-UTRSNV | 3/3 | - |
1-1190206-G-A | UBE2J2 | c.*377C>T | - | 3-UTRSNV | 7/7 | - |
6-31639845-C-A | LY6G5B | c.392C>A | p.Ser131Tyr | Missense | 3/3 | - |
22-21153964-G-A | PI4KA | c.1815C>T | p.Ser605Ser | Synonymous | 15/55 | - |
2-26150717-G-A | KIF3C | c.*1130C>T | - | 3-UTRSNV | 8/8 | - |
1-85724328-C-T | C1orf52 | c.354G>A | p.Pro118Pro | Synonymous | 2/3 | - |
1-156108976-G-C | LMNA | c.*79G>C | - | 3-UTRSNV | 12/12 | - |
1-156108976-G-A | LMNA | c.*79G>A | - | 3-UTRSNV | 12/12 | - |
2-233201443-A-G | DIS3L2 | c.*103A>G | - | 3-UTRSNV | 21/21 | - |
22-30093667-T-C | NF2 | c.*2876T>C | - | 3-UTRSNV | 16/16 | - |
8-103219495-A-C | RRM2B | c.*866T>G | - | 3-UTRSNV | 9/9 | - |
2-135214259-G-T | TMEM163 | c.*28C>A | - | 3-UTRSNV | 8/8 | - |
2-85773252-T-C | GGCX | c.*3805A>G | - | 3-UTRSNV | 15/15 | - |
5-77425099-G-A | AP3B1 | c.1536C>T | p.Leu512Leu | Synonymous | 16/27 | - |
2-135214259-G-A | TMEM163 | c.*28C>T | - | 3-UTRSNV | 8/8 | - |
9-93637015-C-T | SYK | c.996C>T | p.Pro332Pro | Synonymous | 8/13 | - |
5-169509929-G-C | DOCK2 | c.*67G>C | - | 3-UTRSNV | 52/52 | - |
5-169509929-G-A | DOCK2 | c.*67G>A | - | 3-UTRSNV | 52/52 | - |
13-32910456-C-A | BRCA2 | c.1964C>A | p.Pro655Gln | Missense | 11/27 | - |
3-10044626-T-C | EMC3 | c.-242+8081A>G | - | intron_variant | - | 1/8 |
9-127639695-C-T | ARPC5L | c.*476C>T | - | 3-UTRSNV | 6/6 | - |
19-21265110-G-A | ZNF714 | c.-221G>A | - | 5_prime_UTR_variant | 1/5 | - |
19-21265110-G-C | ZNF714 | c.-221G>C | - | 5_prime_UTR_variant | 1/5 | - |
12-113537562-C-G | RASAL1 | c.*172G>C | - | 3-UTRSNV | 22/22 | - |
4-3231661-G-A | HTT | c.8163G>A | - | synonymous_variant | 60/67 | - |
19-54378099-GA-AG | MYADM | c.*347_*348delinsAG | - | 3-UTRBlockSubstitution | 3/3 | - |
13-32910456-C-T | BRCA2 | c.1964C>T | p.Pro655Leu | Missense | 11/27 | - |
13-32910456-C-G | BRCA2 | c.1964C>G | p.Pro655Arg | Missense | 11/27 | - |
2-67637336-T-A | ETAA1 | c.*166T>A | - | 3-UTRSNV | 6/6 | - |
12-27908603-A-G | MRPS35 | c.*220A>G | - | 3-UTRSNV | 8/8 | - |
1-14143527-C-T | PRDM2 | c.*485C>T | - | IntronicSNV | 10/10 | - |
22-30091999-C-T | NF2 | c.*1208C>T | - | 3-UTRSNV | 16/16 | - |
5-138456815-T-C | SIL1 | c.153A>G | p.Thr51Thr | Synonymous | 3/10 | - |
12-53873844-G-A | PCBP2 | c.*618G>A | - | 3-UTRSNV | 15/15 | - |
2-114476760-A-C | SLC35F5 | c.1467T>G | p.Ala489Ala | Synonymous | 14/16 | - |
19-40947359-G-C | SERTAD3 | c.*38C>G | - | 3-UTRSNV | 2/2 | - |
19-17412399-G-A | ABHD8 | c.27C>T | p.Ile9Ile | Synonymous | 2/5 | - |
2-85628983-C-G | CAPG | c.121G>C | p.Val41Leu | Missense | 3/10 | - |
4-41956255-T-C | TMEM33 | c.*39T>C | - | 3-UTRSNV | 7/7 | - |
17-44117135-C-T | KANSL1 | c.2136G>A | p.Pro712Pro | Synonymous | 8/15 | - |
3-195776630-T-A | TFRC | c.*2183A>T | - | 3-UTRSNV | 19/19 | - |
6-26414483-C-T | BTN3A1 | c.*563C>T | - | 3-UTRSNV | 10/10 | - |
16-15130594-A-G | PDXDC1 | c.*462A>G | - | 3-UTRSNV | 23/23 | - |
22-36064164-C-T | APOL6 | c.*8521C>T | - | 3-UTRSNV | 3/3 | - |
6-31938412-G-T | DXO | c.783C>A | p.His261Gln | Missense | 4/7 | - |
10-74886544-A-G | NUDT13 | c.817A>G | p.Met273Val | Missense | 8/9 | - |
2-5838030-G-A | SOX11 | c.*3851G>A | - | 3-UTRSNV | 1/1 | - |
12-12284915-G-A | LRP6 | c.3810C>T | p.Cys1270Cys | Synonymous | 18/23 | - |
6-32131174-C-T | PPT2 | c.*447C>T | - | 3-UTRSNV | 9/9 | - |
17-61823672-T-C | CCDC47 | c.*569A>G | - | 3-UTRSNV | 13/13 | - |
18-9255539-C-G | ANKRD12 | c.2274C>G | p.Ser758Arg | Missense | 9/13 | - |
18-9255539-C-T | ANKRD12 | c.2274C>T | p.Ser758Ser | Synonymous | 9/13 | - |
6-31938412-G-C | DXO | c.783C>G | p.His261Gln | Missense | 4/7 | - |
6-31938412-G-A | DXO | c.783C>T | p.His261His | Synonymous | 4/7 | - |
2-48010488-G-C | MSH6 | c.116G>C | p.Gly39Ala | Missense | 1/10 | - |
6-158924338-C-T | TULP4 | c.3643C>T | p.Pro1215Ser | Missense | 13/14 | - |
1-6649302-C-A | ZBTB48 | c.*30C>A | - | 3-UTRSNV | 11/11 | - |
3-50327010-T-C | IFRD2 | c.839A>G | p.Tyr280Cys | Missense | 7/12 | - |
12-109973297-A-G | UBE3B | c.*710A>G | - | 3-UTRSNV | 28/28 | - |
11-65417434-G-A | SIPA1 | c.2760G>A | p.Ala920Ala | Synonymous | 13/16 | - |
9-37866551-C-T | DCAF10 | c.*5046C>T | - | 3-UTRSNV | 7/7 | - |
14-102446161-G-A | DYNC1H1 | c.624G>A | p.Pro208Pro | Synonymous | 4/78 | - |
20-56189985-C-G | ZBP1 | c.460G>C | p.Asp154His | Missense | 4/8 | - |
22-20302276-A-T | DGCR6L | c.585T>A | p.Asn195Lys | Missense | 5/5 | - |
1-169673838-G-A | SELL | c.637C>T | - | missense_variant | 5/9 | - |
22-20302276-A-C | DGCR6L | c.585T>G | p.Asn195Lys | Missense | 5/5 | - |
19-54378100-A-G | MYADM | c.*348A>G | - | 3-UTRSNV | 3/3 | - |
19-54378100-A-C | MYADM | c.*348A>C | - | 3-UTRSNV | 3/3 | - |
6-26468319-C-T | BTN2A1 | c.1126C>T | p.Leu376Leu | Synonymous | 8/8 | - |
1-169673838-G-T | SELL | c.637C>A | - | missense_variant | 5/9 | - |
2-86248325-T-C | POLR1A | c.*6221A>G | - | IntergenicSNV | 34/34 | - |
2-174232978-G-C | CDCA7 | c.*586G>C | - | 3-UTRSNV | 10/10 | - |
17-71232990-C-T | C17orf80 | c.1369C>T | p.Arg457Cys | Missense | 3/6 | - |
16-15130510-C-T | PDXDC1 | c.*378C>T | - | 3-UTRSNV | 23/23 | - |
1-179043939-G-A | FAM20B | c.*2660G>A | - | 3-UTRSNV | 8/8 | - |
8-120744349-T-C | TAF2 | c.3415A>G | p.Thr1139Ala | Missense | 26/26 | - |
2-97500775-A-G | CNNM3 | c.*2422A>G | - | 3-UTRSNV | 8/8 | - |
6-76625079-T-C | MYO6 | c.*350T>C | - | 3-UTRSNV | 35/35 | - |
14-64596823-C-A | SYNE2 | c.14197C>A | p.Pro4733Thr | Missense | 76/116 | - |
16-624713-C-T | PIGQ | c.639C>T | p.Cys213Cys | Synonymous | 2/11 | - |
5-138266546-G-A | CTNNA1 | c.2220G>A | p.Ser740Ser | Synonymous | 16/18 | - |
19-47856336-C-T | DHX34 | c.49C>T | p.Arg17Trp | Missense | 2/17 | - |
4-187122355-T-C | CYP4V2 | c.846T>C | p.Cys282Cys | Synonymous | 7/11 | - |
7-127221414-T-A | GCC1 | c.*654A>T | - | 3-UTRSNV | 2/2 | - |
21-45483511-TCG-AAC | TRAPPC10 | c.883_885delTCGinsAAC | p.Ser295Asn | Missense | 7/23 | - |
16-68294000-C-T | PLA2G15 | c.*440C>T | - | 3-UTRSNV | 6/6 | - |
9-93640009-G-A | SYK | c.1269G>A | p.Leu423Leu | Synonymous | 9/13 | - |
9-93640009-G-C | SYK | c.1269G>C | p.Leu423Leu | Synonymous | 9/13 | - |
2-1652660-G-A | PXDN | c.2892C>T | p.Asn964Asn | Synonymous | 17/23 | - |
12-60173406-C-T | SLC16A7 | c.1383C>T | p.Asn461Asn | Synonymous | 5/5 | - |
12-60173406-C-A | SLC16A7 | c.1383C>A | p.Asn461Lys | Missense | 5/5 | - |
11-6655433-G-A | DCHS1 | c.1902C>T | p.His634His | Synonymous | 3/21 | - |
21-44189166-T-C | PDE9A | c.1311T>C | p.Pro437Pro | Synonymous | 16/19 | - |
7-128411422-C-T | CALU | c.*2201C>T | - | 3-UTRSNV | 7/7 | - |
1-65897869-G-A | LEPR | c.-21+6808G>A | - | intron_variant | - | 2/19 |
11-134019675-T-C | JAM3 | c.*599T>C | - | 3-UTRSNV | 9/9 | - |
1-55207918-C-G | TTC4 | c.*732C>G | - | 3-UTRSNV | 10/10 | - |
6-111628626-C-T | REV3L | c.9190G>A | p.Val3064Ile | Missense | 32/33 | - |
6-31379990-C-G | MICA | c.880C>G | p.Pro294Ala | Missense | 4/6 | - |
11-102268527-T-A | TMEM123 | c.*1071A>T | - | 3-UTRSNV | 5/5 | - |
6-131179302-C-G | EPB41L2 | c.1996G>C | p.Glu666Gln | Missense | 14/15 | - |
19-5212380-C-G | PTPRS | c.4737G>C | p.Pro1579Pro | Synonymous | 31/38 | - |
1-202861566-A-G | KLHL12 | c.*95T>C | - | 3-UTRSNV | 12/12 | - |
12-56634583-C-T | ANKRD52 | c.*2343G>A | - | 3-UTRSNV | 28/28 | - |
5-184106-C-A | PLEKHG4B | c.*1668C>A | - | 3-UTRSNV | 20/20 | - |
12-56386076-A-G | RAB5B | c.*80A>G | - | 3-UTRSNV | 6/6 | - |
4-187132520-C-G | CYP4V2 | c.*725C>G | - | 3-UTRSNV | 11/11 | - |
17-57281310-G-A | PRR11 | c.*2318G>A | - | 3-UTRSNV | 10/10 | - |
5-64447660-G-A | ADAMTS6 | c.*3C>T | - | 3-UTRSNV | 25/25 | - |
4-151177428-C-G | DCLK2 | c.*29C>G | - | 3-UTRSNV | 16/16 | - |
3-179117663-G-C | GNB4 | c.*1338C>G | - | 3-UTRSNV | 10/10 | - |
4-56770708-A-C | EXOC1 | c.*47A>C | - | 3-UTRSNV | 19/19 | - |
7-6062229-T-C | AIMP2 | c.575-705T>C | - | IntronicSNV | - | 3/3 |
9-125865636-C-T | RABGAP1 | c.*144C>T | - | 3-UTRSNV | 26/26 | - |
1-9097241-C-T | SLC2A5 | c.*404G>A | - | 3-UTRSNV | 12/12 | - |
2-100210074-G-A | AFF3 | c.2049C>T | p.Ser683Ser | Synonymous | 14/24 | - |
4-38937372-T-C | FAM114A1 | c.1497T>C | p.Ser499Ser | Synonymous | 13/15 | - |
5-137278682-T-C | FAM13B | c.2320A>G | p.Met774Val | Missense | 20/22 | - |
2-1636553-C-A | PXDN | c.*1423G>T | - | 3-UTRSNV | 23/23 | - |
3-10138069-T-G | FANCD2 | c.4098T>G | p.Leu1366Leu | Synonymous | 42/44 | - |
21-33373930-A-C | HUNK | c.*2433A>C | - | 3-UTRSNV | 11/11 | - |
18-66342721-C-G | TMX3 | c.*1449G>C | - | 3-UTRSNV | 16/16 | - |
18-66342721-C-T | TMX3 | c.*1449G>A | - | 3-UTRSNV | 16/16 | - |
11-203788-C-T | BET1L | c.*1682G>A | - | 3-UTRSNV | 3/3 | - |
13-76370837-T-C | LMO7 | c.570T>C | p.His190His | Synonymous | 7/30 | - |
8-1951854-C-T | KBTBD11 | c.*624C>T | - | 3-UTRSNV | 2/2 | - |
12-56435920-C-G | RPS26 | c.1-31C>G | - | 5-UTRSNV | 1/4 | - |
2-85547733-C-T | TGOLN2 | c.*2126G>A | - | 3-UTRSNV | 4/4 | - |
16-28333411-G-A | SBK1 | c.*1169G>A | - | 3-UTRSNV | 4/4 | - |
2-85546082-C-T | TGOLN2 | c.*3777G>A | - | 3-UTRSNV | 4/4 | - |
19-52920630-G-A | ZNF528 | c.*638G>A | - | 3-UTRSNV | 7/7 | - |
2-37208479-G-C | HEATR5B | c.*154C>G | - | 3-UTRSNV | 36/36 | - |
2-37208479-G-A | HEATR5B | c.*154C>T | - | 3-UTRSNV | 36/36 | - |
11-86013361-A-G | HIKESHI | c.1-130A>G | - | 5-UTRSNV | 1/5 | - |
17-53038654-A-C | COX11 | c.*1440T>G | - | 3-UTRSNV | 4/4 | - |
9-132398072-C-A | NTMT1 | c.*329C>A | - | IntergenicSNV | 4/4 | - |
18-44634291-C-T | HDHD2 | c.*762G>A | - | 3-UTRSNV | 7/7 | - |
9-132398072-C-T | NTMT1 | c.*329C>T | - | IntergenicSNV | 4/4 | - |
5-184760-A-G | PLEKHG4B | c.*2322A>G | - | 3-UTRSNV | 20/20 | - |
3-133524717-G-C | SRPRB | c.25G>C | p.Val9Leu | Missense | 2/8 | - |
1-17312596-T-A | ATP13A2 | c.*120A>T | - | 3-UTRSNV | 29/29 | - |
1-17312596-T-G | ATP13A2 | c.*120A>C | - | 3-UTRSNV | 29/29 | - |
6-44371690-T-C | CDC5L | c.684T>C | p.Ser228Ser | Synonymous | 6/16 | - |
16-68390697-C-T | PRMT7 | c.1905C>T | p.Pro635Pro | Synonymous | 18/19 | - |
22-43204801-A-G | ARFGAP3 | c.1292T>C | p.Met431Thr | Missense | 13/16 | - |
16-28334994-G-A | SBK1 | c.*2752G>A | - | 3-UTRSNV | 4/4 | - |
2-238668802-A-G | LRRFIP1 | c.771A>G | p.Thr257Thr | Synonymous | 9/10 | - |
6-53133848-T-A | ELOVL5 | c.*77A>T | - | 3-UTRSNV | 8/8 | - |
7-29961659-C-G | SCRN1 | c.*1914G>C | - | 3-UTRSNV | 8/8 | - |
9-135138338-A-G | SETX | c.*1288T>C | - | 3-UTRSNV | 26/26 | - |
6-158924595-A-C | TULP4 | c.3900A>C | p.Gln1300His | Missense | 13/14 | - |
5-184393-C-A | PLEKHG4B | c.*1955C>A | - | 3-UTRSNV | 20/20 | - |
2-39963561-T-A | THUMPD2 | c.*314A>T | - | 3-UTRSNV | 10/10 | - |
19-16268727-G-A | HSH2D | c.*122G>A | - | 3_prime_UTR_variant | 9/9 | - |
3-12962074-G-A | IQSEC1 | c.1918C>T | p.Pro640Ser | Missense | 6/14 | - |
5-147805120-T-C | FBXO38 | c.1774T>C | p.Ser592Pro | Missense | 14/22 | - |
11-82645477-G-A | DDIAS | c.*100G>A | - | 3-UTRSNV | 6/6 | - |
6-143823157-T-C | FUCA2 | c.1066A>G | p.Met356Val | Missense | 5/7 | - |
6-90583601-T-A | CASP8AP2 | c.*73T>A | - | 3-UTRSNV | 10/10 | - |
19-4360543-G-C | SH3GL1 | c.*1054C>G | - | 3-UTRSNV | 10/10 | - |
19-4360543-G-T | SH3GL1 | c.*1054C>A | - | 3-UTRSNV | 10/10 | - |
6-26405835-G-T | BTN3A1 | c.44G>T | p.Arg15Leu | Missense | 2/10 | - |
1-155584657-G-C | MSTO1 | c.*593G>C | - | 3-UTRSNV | 14/14 | - |
14-24843620-T-C | NFATC4 | c.1821T>C | p.Thr607Thr | Synonymous | 6/10 | - |
22-43204801-A-C | ARFGAP3 | c.1292T>G | p.Met431Arg | Missense | 13/16 | - |
22-43204801-A-T | ARFGAP3 | c.1292T>A | p.Met431Lys | Missense | 13/16 | - |
7-142558891-G-A | EPHB6 | c.-1164G>A | - | 5_prime_UTR_variant | 2/19 | - |
7-151253835-G-A | PRKAG2 | c.*452C>T | - | 3-UTRSNV | 16/16 | - |
8-41355096-C-T | GOLGA7 | c.180C>T | p.Leu60Leu | Synonymous | 3/6 | - |
4-184585015-G-A | TRAPPC11 | c.1-6G>A | - | 5-UTRSNV | 2/30 | - |
19-3551125-C-T | MFSD12 | c.366G>A | p.Thr122Thr | Synonymous | 2/10 | - |
5-184393-C-G | PLEKHG4B | c.*1955C>G | - | 3-UTRSNV | 20/20 | - |
3-15092073-A-G | MRPS25 | c.*1875T>C | - | 3-UTRSNV | 4/4 | - |
6-31938451-T-C | DXO | c.744A>G | p.Pro248Pro | Synonymous | 4/7 | - |
6-26599043-T-G | ABT1 | c.*170T>G | - | 3-UTRSNV | 3/3 | - |
2-70315448-A-G | PCBP1 | c.573A>G | p.Pro191Pro | Synonymous | 1/1 | - |
3-9874914-C-A | ARPC4-TTLL3 | c.1738-1451C>A | - | IntronicSNV | - | 11/11 |
7-128032833-C-G | IMPDH1 | c.*228G>C | - | 3-UTRSNV | 17/17 | - |
19-57724748-G-A | ZNF264 | c.*399G>A | - | 3-UTRSNV | 4/4 | - |
3-9874914-C-T | ARPC4-TTLL3 | c.1738-1451C>T | - | IntronicSNV | - | 11/11 |
17-7750936-A-T | KDM6B | c.1330A>T | p.Ser444Cys | Missense | 11/22 | - |
8-120744399-C-A | TAF2 | c.3365G>T | p.Ser1122Ile | Missense | 26/26 | - |
17-7750936-A-G | KDM6B | c.1330A>G | p.Ser444Gly | Missense | 11/22 | - |
2-112786357-G-T | MERTK | c.2916G>T | p.Ser972Ser | Synonymous | 19/19 | - |
4-1843324-C-T | LETM1 | c.344G>A | p.Arg115His | Missense | 3/14 | - |
3-53852053-G-T | CHDH | c.1536C>A | p.Pro512Pro | Synonymous | 9/9 | - |
4-68484396-G-C | UBA6 | c.*319C>G | - | 3-UTRSNV | 33/33 | - |
12-62799401-A-G | USP15 | c.*1246A>G | - | 3-UTRSNV | 21/21 | - |
4-1843324-C-A | LETM1 | c.344G>T | p.Arg115Leu | Missense | 3/14 | - |
11-117097952-C-T | PCSK7 | c.690G>A | p.Thr230Thr | Synonymous | 5/17 | - |
17-1683317-C-G | SMYD4 | c.*1263G>C | - | 3-UTRSNV | 11/11 | - |
9-131018639-T-G | GOLGA2 | c.*707A>C | - | 3-UTRSNV | 26/26 | - |
2-48010488-G-A | MSH6 | c.116G>A | p.Gly39Glu | Missense | 1/10 | - |
6-158734914-C-G | TULP4 | c.1-135C>G | - | 5-UTRSNV | 1/14 | - |
8-132999936-A-G | EFR3A | c.2052A>G | p.Val684Val | Synonymous | 18/23 | - |
13-113536712-C-T | ATP11A | c.*4104C>T | - | 3-UTRSNV | 30/30 | - |
5-14498727-G-A | TRIO | c.8310G>A | p.Ser2770Ser | Synonymous | 53/57 | - |
2-202074098-G-A | CASP10 | c.1228G>A | p.Val410Ile | Missense | 9/10 | - |
22-51066552-C-G | ARSA | c.1-345G>C | - | 5-UTRSNV | 1/8 | - |
18-55335947-G-A | ATP8B1 | c.2098-175C>T | - | IntronicSNV | - | 18/27 |
3-107765739-A-G | CD47 | c.*396T>C | - | 3-UTRSNV | 11/11 | - |
22-30416527-A-T | MTMR3 | c.2879A>T | p.Asn960Ile | Missense | 17/20 | - |
6-158734914-C-T | TULP4 | c.1-135C>T | - | 5-UTRSNV | 1/14 | - |
9-136271744-A-G | REXO4 | c.*333T>C | - | 3-UTRSNV | 6/6 | - |
13-30782059-A-G | KATNAL1 | c.*618T>C | - | 3-UTRSNV | 11/11 | - |
22-41830874-C-A | TOB2 | c.*1441G>T | - | 3-UTRSNV | 2/2 | - |
18-66341658-G-A | TMX3 | c.*2512C>T | - | 3-UTRSNV | 16/16 | - |
22-51066552-C-T | ARSA | c.1-345G>A | - | 5-UTRSNV | 1/8 | - |
3-120049048-G-A | LRRC58 | c.*999C>T | - | 3-UTRSNV | 4/4 | - |
16-68072004-A-G | DUS2 | c.78A>G | p.Pro26Pro | Synonymous | 3/17 | - |
12-109974151-C-T | UBE3B | c.*1564C>T | - | 3-UTRSNV | 28/28 | - |
17-47788755-G-A | FAM117A | c.1224C>T | p.Pro408Pro | Synonymous | 8/8 | - |
5-181660-T-G | PLEKHG4B | c.4434T>G | - | synonymous_variant | 19/20 | - |
1-169677709-A-G | SELL | c.321T>C | - | synonymous_variant | 3/9 | - |
8-103219363-T-C | RRM2B | c.*998A>G | - | 3-UTRSNV | 9/9 | - |
12-7363574-C-G | PEX5 | c.*755C>G | - | 3-UTRSNV | 15/15 | - |
2-231036860-C-T | SP110 | c.1737G>A | p.Met579Ile | Missense | 16/19 | - |
20-44576502-T-C | PCIF1 | c.*108T>C | - | 3-UTRSNV | 17/17 | - |
X-19378830-G-A | PDHA1 | c.*1059G>A | - | 3-UTRSNV | 11/11 | - |
20-48522124-T-G | SPATA2 | c.*32A>C | - | 3-UTRSNV | 3/3 | - |
12-133768553-A-T | ZNF268 | c.421A>T | p.Met141Leu | Missense | 5/7 | - |
12-133768553-A-G | ZNF268 | c.421A>G | p.Met141Val | Missense | 5/7 | - |
19-42752078-T-C | ERF | c.*539A>G | - | 3-UTRSNV | 4/4 | - |
19-42752078-T-A | ERF | c.*539A>T | - | 3-UTRSNV | 4/4 | - |
6-158734315-A-G | TULP4 | c.1-734A>G | - | 5-UTRSNV | 1/14 | - |
3-44903434-G-C | TMEM42 | c.18G>C | p.Gly6Gly | Synonymous | 1/3 | - |
7-99690690-G-C | MCM7 | c.1497C>G | p.Val499Val | Synonymous | 14/14 | - |
7-66421143-C-A | TMEM248 | c.*634C>A | - | 3-UTRSNV | 7/7 | - |
3-194309210-G-A | TMEM44 | c.*48C>T | - | 3-UTRSNV | 11/11 | - |
20-56941286-C-A | RAB22A | c.*6527C>A | - | 3-UTRSNV | 7/7 | - |
20-56941286-C-G | RAB22A | c.*6527C>G | - | 3-UTRSNV | 7/7 | - |
6-62390920-G-A | KHDRBS2 | c.998C>T | p.Pro333Leu | Missense | 9/9 | - |
16-771286-C-T | FAM173A | c.12C>T | p.Asp4Asp | Synonymous | 1/5 | - |
19-2038137-T-C | MKNK2 | c.*1475A>G | - | 3-UTRSNV | 14/14 | - |
4-2948203-G-C | NOP14 | c.1571C>G | p.Ala524Gly | Missense | 11/19 | - |
14-105862598-T-G | PACS2 | c.*1589T>G | - | 3-UTRSNV | 25/25 | - |
12-113409260-T-C | OAS3 | c.*1482T>C | - | 3-UTRSNV | 16/16 | - |
22-30403996-C-T | MTMR3 | c.984C>T | p.Ala328Ala | Synonymous | 11/20 | - |
3-13395475-G-C | NUP210 | c.2461C>G | p.Pro821Ala | Missense | 17/40 | - |
1-237065810-T-G | MTR | c.*4866T>G | - | 3-UTRSNV | 33/33 | - |
4-17802388-C-T | DCAF16 | c.*2726G>A | - | 3-UTRSNV | 3/3 | - |
1-202849770-T-C | RABIF | c.*336A>G | - | 3-UTRSNV | 2/2 | - |
1-227920357-C-T | JMJD4 | c.1128G>A | p.Ser376Ser | Synonymous | 6/6 | - |
3-30733838-C-T | TGFBR2 | c.*747C>T | - | 3-UTRSNV | 8/8 | - |
12-113401199-G-A | OAS3 | c.2166G>A | p.Ala722Ala | Synonymous | 10/16 | - |
1-22148817-G-A | LDLRAD2 | c.*109G>A | - | 3-UTRSNV | 5/5 | - |
9-96440728-C-T | PHF2 | c.*770C>T | - | 3-UTRSNV | 22/22 | - |
9-96440728-C-A | PHF2 | c.*770C>A | - | 3-UTRSNV | 22/22 | - |
14-93406789-G-T | ITPK1 | c.*1117C>A | - | 3-UTRSNV | 11/11 | - |
16-53308149-G-A | CHD9 | c.4902G>A | p.Leu1634Leu | Synonymous | 24/39 | - |
19-19737686-C-T | LPAR2 | c.408G>A | p.Val136Val | Synonymous | 2/3 | - |
3-10143274-C-T | FANCD2 | c.*328C>T | - | 3-UTRSNV | 44/44 | - |
12-7248675-C-G | C1RL | c.*312G>C | - | 3-UTRSNV | 6/6 | - |
6-10529014-A-G | GCNT2 | c.1-131A>G | - | 5-UTRSNV | 3/5 | - |
7-27832708-C-T | TAX1BP1 | c.1287C>T | p.His429His | Synonymous | 10/17 | - |
17-76221370-A-G | BIRC5 | c.*1735A>G | - | 3-UTRSNV | 4/4 | - |
18-14105016-C-A | ZNF519 | c.1523G>T | p.Arg508Ile | Missense | 3/3 | - |
19-1609760-C-T | TCF3 | c.*1946G>A | - | 3-UTRSNV | 19/19 | - |
4-17802388-C-G | DCAF16 | c.*2726G>C | - | 3-UTRSNV | 3/3 | - |
17-43364638-C-T | MAP3K14 | c.419G>A | p.Ser140Asn | Missense | 4/17 | - |
4-15835844-A-C | CD38 | c.504A>C | p.Ile168Ile | Synonymous | 4/8 | - |
9-130704216-G-A | FAM102A | c.*1255C>T | - | 3-UTRSNV | 11/11 | - |
1-114438446-G-A | AP4B1 | c.1725C>T | p.Ile575Ile | Synonymous | 10/11 | - |
3-10045030-C-A | EMC3 | c.-242+7677G>T | - | intron_variant | - | 1/8 |
3-30733838-C-G | TGFBR2 | c.*747C>G | - | 3-UTRSNV | 8/8 | - |
9-96440051-C-A | PHF2 | c.*93C>A | - | 3-UTRSNV | 22/22 | - |
22-26839213-G-A | ASPHD2 | c.*41G>A | - | 3-UTRSNV | 4/4 | - |
1-214787130-G-A | CENPF | c.33G>A | p.Gly11Gly | Synonymous | 2/20 | - |
12-7249598-T-C | C1RL | c.853A>G | p.Ile285Val | Missense | 6/6 | - |
4-38937372-T-A | FAM114A1 | c.1497T>A | p.Ser499Ser | Synonymous | 13/15 | - |
12-7248675-C-T | C1RL | c.*312G>A | - | 3-UTRSNV | 6/6 | - |
17-76113954-G-C | TMC6 | c.1950C>G | p.Thr650Thr | Synonymous | 16/20 | - |
17-7815712-C-T | CHD3 | c.*809C>T | - | 3-UTRSNV | 40/40 | - |
9-2191309-C-G | SMARCA2 | c.4638C>G | p.Asp1546Glu | Missense | 33/34 | - |
14-20757728-G-A | TTC5 | c.*58C>T | - | 3-UTRSNV | 10/10 | - |
19-17412366-G-A | ABHD8 | c.60C>T | p.Ala20Ala | Synonymous | 2/5 | - |
2-17965699-C-T | GEN1 | c.*2493C>T | - | 3-UTRSNV | 14/14 | - |
15-78461975-G-A | IDH3A | c.*628G>A | - | 3-UTRSNV | 11/11 | - |
4-1718870-G-A | TMEM129 | c.*267C>T | - | 3-UTRSNV | 3/3 | - |
5-181762-A-G | PLEKHG4B | c.4536A>G | - | synonymous_variant | 19/20 | - |
12-60173888-G-A | SLC16A7 | c.*428G>A | - | 3-UTRSNV | 5/5 | - |
16-2009561-G-A | NDUFB10 | c.1-65G>A | - | 5-UTRSNV | 1/4 | - |
20-463608-A-T | CSNK2A1 | c.*997T>A | - | 3-UTRSNV | 13/13 | - |
20-463608-A-C | CSNK2A1 | c.*997T>G | - | 3-UTRSNV | 13/13 | - |
X-41587569-C-G | CASK | c.429+11068G>C | - | IntronicSNV | - | 5/26 |
22-18075053-G-A | ATP6V1E1 | c.*387C>T | - | 3-UTRSNV | 9/9 | - |
1-87211940-A-C | SH3GLB1 | c.*3022A>C | - | 3-UTRSNV | 9/9 | - |
X-71788704-C-A | HDAC8 | c.195G>T | p.Glu65Asp | Missense | 3/11 | - |
X-71788704-C-G | HDAC8 | c.195G>C | p.Glu65Asp | Missense | 3/11 | - |
X-41587569-C-T | CASK | c.429+11068G>A | - | IntronicSNV | - | 5/26 |
20-5527176-T-A | GPCPD1 | c.*1131A>T | - | 3-UTRSNV | 20/20 | - |
2-170592709-A-G | KLHL23 | c.1185A>G | p.Lys395Lys | Synonymous | 2/4 | - |
4-185615768-T-G | CENPU | c.*674A>C | - | 3-UTRSNV | 13/13 | - |
20-18523002-C-A | SEC23B | c.1467C>A | p.His489Gln | Missense | 13/20 | - |
9-140638416-G-A | EHMT1 | c.1044G>A | p.Ser348Ser | Synonymous | 6/27 | - |
9-140638416-G-T | EHMT1 | c.1044G>T | p.Ser348Ser | Synonymous | 6/27 | - |
9-130630749-C-G | AK1 | c.367G>C | p.Glu123Gln | Missense | 6/7 | - |
22-29957570-G-A | NIPSNAP1 | c.444C>T | p.Leu148Leu | Synonymous | 6/10 | - |
12-27951387-A-G | KLHL42 | c.*288A>G | - | 3-UTRSNV | 3/3 | - |
1-23834438-T-C | E2F2 | c.*1934A>G | - | 3-UTRSNV | 7/7 | - |
2-191851646-C-A | STAT1 | c.1155G>T | p.Thr385Thr | Synonymous | 14/25 | - |
2-191851646-C-T | STAT1 | c.1155G>A | p.Thr385Thr | Synonymous | 14/25 | - |
14-23237212-G-A | OXA1L | c.271G>A | - | missense_variant | 3/10 | - |
6-62995920-T-C | KHDRBS2 | c.1-67A>G | - | 5-UTRSNV | 1/9 | - |
7-44424253-C-T | NUDCD3 | c.*1357G>A | - | 3-UTRSNV | 6/6 | - |
6-62995920-T-G | KHDRBS2 | c.1-67A>C | - | 5-UTRSNV | 1/9 | - |
15-56383205-C-T | RFX7 | c.*2338G>A | - | 3-UTRSNV | 10/10 | - |
11-290918-G-A | PGGHG | c.711G>A | p.Gln237Gln | Synonymous | 4/14 | - |
18-60996360-T-C | KDSR | c.*2655A>G | - | 3-UTRSNV | 10/10 | - |
22-18650682-C-T | USP18 | c.506C>T | p.Thr169Met | Missense | 6/11 | - |
9-96407983-C-T | PHF2 | c.372C>T | p.Thr124Thr | Synonymous | 4/22 | - |
16-67696365-G-A | PARD6A | c.856G>A | p.Val286Ile | Missense | 3/3 | - |
1-167973976-C-T | DCAF6 | c.1323C>T | p.Asp441Asp | Synonymous | 10/20 | - |
8-1952175-A-G | KBTBD11 | c.*945A>G | - | 3-UTRSNV | 2/2 | - |
4-178274565-A-T | NEIL3 | c.1143A>T | p.Arg381Ser | Missense | 8/10 | - |
16-87782322-G-C | KLHDC4 | c.463C>G | p.Leu155Val | Missense | 5/12 | - |
18-74691225-A-C | MBP | c.*1158T>G | - | 3-UTRSNV | 7/7 | - |
12-109894028-A-G | KCTD10 | c.618T>C | p.Val206Val | Synonymous | 6/7 | - |
16-68395522-C-T | SMPD3 | c.1850G>A | p.Cys617Tyr | Missense | 8/9 | - |
18-56416693-T-C | MALT1 | c.*1619T>C | - | 3-UTRSNV | 17/17 | - |
1-27732910-C-T | WASF2 | c.*1773G>A | - | 3-UTRSNV | 9/9 | - |
1-35319681-T-C | SMIM12 | c.*1619A>G | - | 3-UTRSNV | 2/2 | - |
9-136271841-C-A | REXO4 | c.*236G>T | - | 3-UTRSNV | 6/6 | - |
20-18513372-C-A | SEC23B | c.1298C>A | p.Pro433Gln | Missense | 11/20 | - |
12-133780851-G-C | ZNF268 | c.*2103G>C | - | 3-UTRSNV | 7/7 | - |
6-31611746-G-A | BAG6 | c.1569C>T | p.Ala523Ala | Synonymous | 13/25 | - |
7-29960812-T-A | SCRN1 | c.*2761A>T | - | 3-UTRSNV | 8/8 | - |
19-1435496-C-G | DAZAP1 | c.*761C>G | - | 3_prime_UTR_variant | 13/13 | - |
19-1435496-C-T | DAZAP1 | c.*761C>T | - | 3_prime_UTR_variant | 13/13 | - |
5-76360212-C-T | AGGF1 | c.*1135C>T | - | 3-UTRSNV | 14/14 | - |
7-99170533-T-C | ZNF655 | c.802T>C | p.Tyr268His | Missense | 3/3 | - |
1-220870459-A-G | C1orf115 | c.*386A>G | - | 3-UTRSNV | 2/2 | - |
19-41220529-C-T | COQ8B | c.9G>A | p.Leu3Leu | Synonymous | 2/15 | - |
9-136271841-C-T | REXO4 | c.*236G>A | - | 3-UTRSNV | 6/6 | - |
9-136271841-C-G | REXO4 | c.*236G>C | - | 3-UTRSNV | 6/6 | - |
1-178821921-A-G | ANGPTL1 | c.1185T>C | p.Tyr395Tyr | Synonymous | 5/6 | - |
20-18513372-C-T | SEC23B | c.1298C>T | p.Pro433Leu | Missense | 11/20 | - |
7-127991133-G-A | PRRT4 | c.*153C>T | - | 3-UTRSNV | 6/6 | - |
5-145523105-G-A | LARS | c.1747C>T | p.Leu583Leu | Synonymous | 19/32 | - |
9-140077639-G-A | ANAPC2 | c.1224C>T | p.Arg408Arg | Synonymous | 6/13 | - |
13-113539881-A-T | ATP11A | c.*3701A>T | - | 3_prime_UTR_variant | 30/30 | - |
4-114374465-A-G | CAMK2D | c.*2446T>C | - | 3-UTRSNV | 19/19 | - |
6-62995920-T-A | KHDRBS2 | c.1-67A>T | - | 5-UTRSNV | 1/9 | - |
2-44115183-T-A | LRPPRC | c.*556A>T | - | 3-UTRSNV | 38/38 | - |
19-6763718-A-G | SH2D3A | c.42T>C | p.Pro14Pro | Synonymous | 2/10 | - |
4-178274694-T-A | NEIL3 | c.1272T>A | p.Val424Val | Synonymous | 8/10 | - |
18-34398914-C-T | TPGS2 | c.108G>A | p.Glu36Glu | Synonymous | 2/7 | - |
11-27516419-G-A | LIN7C | c.*3777C>T | - | 3-UTRSNV | 5/5 | - |
7-6063283-C-T | AIMP2 | c.924C>T | p.Asn308Asn | Synonymous | 4/4 | - |
5-145665917-T-C | RBM27 | c.*324T>C | - | 3-UTRSNV | 21/21 | - |
11-61099072-G-A | DDB1 | c.153C>T | p.Pro51Pro | Synonymous | 2/27 | - |
22-20762400-C-A | ZNF74 | c.*1142C>A | - | 3-UTRSNV | 5/5 | - |
22-20762400-C-G | ZNF74 | c.*1142C>G | - | 3-UTRSNV | 5/5 | - |
22-20762400-C-T | ZNF74 | c.*1142C>T | - | 3-UTRSNV | 5/5 | - |
1-20978410-T-C | DDOST | c.*462A>G | - | 3-UTRSNV | 11/11 | - |
4-153548151-G-A | TMEM154 | c.*1547C>T | - | 3-UTRSNV | 7/7 | - |
9-94794302-T-C | SPTLC1 | c.*445A>G | - | 3-UTRSNV | 15/15 | - |
11-68696783-C-T | IGHMBP2 | c.1193C>T | p.Ala398Val | Missense | 8/15 | - |
Y-15591537-G-C | UTY | c.9C>G | p.Ser3Ser | Synonymous | 1/20 | - |
11-68696783-C-A | IGHMBP2 | c.1193C>A | p.Ala398Glu | Missense | 8/15 | - |
12-109525439-G-A | USP30 | c.*1703G>A | - | 3-UTRSNV | 13/13 | - |
16-88781062-G-A | CTU2 | c.1269G>A | p.Leu423Leu | Synonymous | 12/14 | - |
22-20761976-T-G | ZNF74 | c.*718T>G | - | 3-UTRSNV | 5/5 | - |
1-29444953-C-T | EPB41 | c.*1629C>T | - | 3_prime_UTR_variant | 21/21 | - |
2-26151143-C-T | KIF3C | c.*704G>A | - | 3-UTRSNV | 8/8 | - |
Y-15467824-A-G | UTY | c.1353T>C | p.Ser451Ser | Synonymous | 14/20 | - |
2-191365043-A-G | MFSD6 | c.*99A>G | - | 3-UTRSNV | 8/8 | - |
1-40705726-A-T | RLF | c.5352A>T | p.Glu1784Asp | Missense | 8/8 | - |
7-31748034-A-G | PPP1R17 | c.*1137A>G | - | 3-UTRSNV | 5/5 | - |
3-10028690-G-A | EMC3 | c.1-345C>T | - | IntergenicSNV | - | 1/8 |
18-67671294-C-T | RTTN | c.*93G>A | - | 3-UTRSNV | 49/49 | - |
2-232879671-C-A | DIS3L2 | c.34C>A | p.Pro12Thr | Missense | 2/21 | - |
22-37334953-G-A | CSF2RB | c.*409G>A | - | 3-UTRSNV | 14/14 | - |
2-232879671-C-T | DIS3L2 | c.34C>T | p.Pro12Ser | Missense | 2/21 | - |
10-16859400-G-C | RSU1 | c.-90C>G | - | 5_prime_UTR_variant | 1/9 | - |
2-32822957-G-A | BIRC6 | c.13752G>A | p.Thr4584Thr | Synonymous | 69/74 | - |
5-150436517-G-A | TNIP1 | c.437C>T | p.Ala146Val | Missense | 6/18 | - |
16-731725-T-G | JMJD8 | c.*1069A>C | - | 3-UTRSNV | 9/9 | - |
17-12894200-C-A | ARHGAP44 | c.*712C>A | - | 3-UTRSNV | 21/21 | - |
11-102268574-C-A | TMEM123 | c.*1024G>T | - | 3-UTRSNV | 5/5 | - |
1-55197320-G-A | TTC4 | c.843G>A | p.Leu281Leu | Synonymous | 7/10 | - |
X-48681187-G-T | HDAC6 | c.2495G>T | p.Arg832Leu | Missense | 24/29 | - |
9-36665388-A-G | MELK | c.1218A>G | p.Lys406Lys | Synonymous | 14/18 | - |
1-213446604-G-A | RPS6KC1 | c.*627G>A | - | 3-UTRSNV | 15/15 | - |
12-118582908-C-T | PEBP1 | c.*300C>T | - | 3-UTRSNV | 4/4 | - |
12-118582908-C-A | PEBP1 | c.*300C>A | - | 3-UTRSNV | 4/4 | - |
8-42877610-T-A | HOOK3 | c.*3969T>A | - | 3-UTRSNV | 22/22 | - |
4-47594204-A-G | ATP10D | c.*806A>G | - | 3-UTRSNV | 23/23 | - |
19-40947305-A-T | SERTAD3 | c.*92T>A | - | 3-UTRSNV | 2/2 | - |
5-150436517-G-T | TNIP1 | c.437C>A | p.Ala146Glu | Missense | 6/18 | - |
15-100255034-G-C | MEF2A | c.*2058G>C | - | 3-UTRSNV | 10/10 | - |
15-100255034-G-A | MEF2A | c.*2058G>A | - | 3-UTRSNV | 10/10 | - |
15-100255034-G-T | MEF2A | c.*2058G>T | - | 3-UTRSNV | 10/10 | - |
11-102268574-C-T | TMEM123 | c.*1024G>A | - | 3-UTRSNV | 5/5 | - |
9-37778498-C-T | TRMT10B | c.*794C>T | - | 3-UTRSNV | 9/9 | - |
8-66514965-T-G | ARMC1 | c.*1664A>C | - | 3-UTRSNV | 7/7 | - |
2-208467273-G-A | CREB1 | c.*5491G>A | - | 3-UTRSNV | 9/9 | - |
X-71715067-T-A | HDAC8 | c.489A>T | p.Leu163Phe | Missense | 5/11 | - |
X-71715067-T-G | HDAC8 | c.489A>C | p.Leu163Phe | Missense | 5/11 | - |
9-32450187-T-C | ACO1 | c.*78T>C | - | 3-UTRSNV | 21/21 | - |
7-8127710-G-A | GLCCI1 | c.*1542G>A | - | 3-UTRSNV | 8/8 | - |
2-30864006-T-C | LCLAT1 | c.*521T>C | - | 3-UTRSNV | 7/7 | - |
16-15131974-G-A | PDXDC1 | c.*1842G>A | - | IntergenicSNV | 23/23 | - |
5-65321311-C-T | ERBIN | c.821C>T | p.Ser274Leu | Missense | 11/25 | - |
3-53852053-G-C | CHDH | c.1536C>G | p.Pro512Pro | Synonymous | 9/9 | - |
2-96944553-G-A | SNRNP200 | c.5317C>T | p.Leu1773Leu | Synonymous | 37/45 | - |
15-52446260-C-T | GNB5 | c.126G>A | p.Ala42Ala | Synonymous | 2/11 | - |
5-70953885-C-G | MCCC2 | c.*1198C>G | - | 3-UTRSNV | 17/17 | - |
8-103219084-T-A | RRM2B | c.*1277A>T | - | 3-UTRSNV | 9/9 | - |
5-70953885-C-T | MCCC2 | c.*1198C>T | - | 3-UTRSNV | 17/17 | - |
5-70953885-C-A | MCCC2 | c.*1198C>A | - | 3-UTRSNV | 17/17 | - |
5-6600150-G-A | NSUN2 | c.2193C>T | p.Asp731Asp | Synonymous | 19/19 | - |
12-8670798-GGA-AGC | CLEC4D | c.160_162delGGAinsAGC | p.Gly54Ser | Missense | 3/6 | - |
1-9811653-C-T | CLSTN1 | c.527G>A | p.Gly176Glu | Missense | 5/19 | - |
4-185615764-C-A | CENPU | c.*678G>T | - | 3-UTRSNV | 13/13 | - |
5-145508340-A-G | LARS | c.2775T>C | p.Thr925Thr | Synonymous | 27/32 | - |
7-139415943-G-A | HIPK2 | c.891C>T | - | synonymous_variant | 2/15 | - |
4-178274565-A-G | NEIL3 | c.1143A>G | p.Arg381Arg | Synonymous | 8/10 | - |
9-124546143-G-A | DAB2IP | c.*319G>A | - | 3-UTRSNV | 17/17 | - |
5-169435713-A-T | DOCK2 | c.3195A>T | p.Leu1065Leu | Synonymous | 32/52 | - |
13-98674153-T-C | IPO5 | c.*77T>C | - | 3-UTRSNV | 29/29 | - |
5-145508340-A-T | LARS | c.2775T>A | p.Thr925Thr | Synonymous | 27/32 | - |
17-12045905-G-A | MAP2K4 | c.*1328G>A | - | 3-UTRSNV | 12/12 | - |
2-26151022-A-G | KIF3C | c.*825T>C | - | 3-UTRSNV | 8/8 | - |
1-179042270-T-G | FAM20B | c.*991T>G | - | 3-UTRSNV | 8/8 | - |
1-179042270-T-C | FAM20B | c.*991T>C | - | 3-UTRSNV | 8/8 | - |
19-32974738-A-T | DPY19L3 | c.*1592A>T | - | 3-UTRSNV | 19/19 | - |
6-99848256-A-T | PNISR | c.*160T>A | - | 3-UTRSNV | 12/12 | - |
8-1951766-C-A | KBTBD11 | c.*536C>A | - | 3-UTRSNV | 2/2 | - |
20-48506190-T-C | SLC9A8 | c.*1717T>C | - | 3-UTRSNV | 16/16 | - |
1-175127616-C-A | KIAA0040 | c.*2234G>T | - | 3-UTRSNV | 4/4 | - |
3-183207519-C-A | KLHL6 | c.*2196G>T | - | 3-UTRSNV | 7/7 | - |
3-183207519-C-T | KLHL6 | c.*2196G>A | - | 3-UTRSNV | 7/7 | - |
3-51434344-C-T | RBM15B | c.*2841C>T | - | 3-UTRSNV | 1/1 | - |
1-198289927-G-A | NEK7 | c.*1275G>A | - | 3-UTRSNV | 10/10 | - |
1-198289927-G-C | NEK7 | c.*1275G>C | - | 3-UTRSNV | 10/10 | - |
1-243668090-T-C | AKT3 | c.1355-5002A>G | - | IntronicSNV | - | 12/13 |
12-133349028-G-A | GOLGA3 | c.*663C>T | - | 3-UTRSNV | 24/24 | - |
6-26405573-G-C | BTN3A1 | c.1-219G>C | - | IntronicSNV | 1/10 | - |
1-150940625-T-A | CERS2 | c.344A>T | p.Glu115Val | Missense | 4/11 | - |
1-150940625-T-G | CERS2 | c.344A>C | p.Glu115Ala | Missense | 4/11 | - |
1-210848344-T-C | HHAT | c.*623T>C | - | 3-UTRSNV | 12/12 | - |
19-20116641-A-G | ZNF682 | c.*173T>C | - | 3-UTRSNV | 4/4 | - |
6-152443389-C-G | SYNE1 | c.*182G>C | - | 3-UTRSNV | 146/146 | - |
1-32799203-T-C | HDAC1 | c.*558T>C | - | 3-UTRSNV | 14/14 | - |
9-132902151-C-A | GPR107 | c.*4751C>A | - | 3-UTRSNV | 20/20 | - |
1-156532977-T-A | IQGAP3 | c.747A>T | p.Gln249His | Missense | 8/38 | - |
12-113535394-C-T | DTX1 | c.*650C>T | - | 3-UTRSNV | 9/9 | - |
1-220156729-C-T | EPRS | c.3102G>A | p.Lys1034Lys | Synonymous | 22/32 | - |
1-89299655-G-T | PKN2 | c.*524G>T | - | 3-UTRSNV | 22/22 | - |
11-35253133-C-T | CD44 | c.*2253C>T | - | 3-UTRSNV | 18/18 | - |
2-33505139-C-A | LTBP1 | c.3026C>A | p.Pro1009Gln | Missense | 19/34 | - |
4-185599489-G-A | PRIMPOL | c.948G>A | p.Gln316Gln | Synonymous | 8/14 | - |
6-152443389-C-T | SYNE1 | c.*182G>A | - | 3-UTRSNV | 146/146 | - |
1-213167124-A-G | ANGEL2 | c.*1259T>C | - | 3-UTRSNV | 9/9 | - |
21-33373128-C-G | HUNK | c.*1631C>G | - | 3-UTRSNV | 11/11 | - |
12-72319289-G-A | TBC1D15 | c.*2305G>A | - | 3-UTRSNV | 18/18 | - |
12-72319289-G-C | TBC1D15 | c.*2305G>C | - | 3-UTRSNV | 18/18 | - |
4-76734727-T-C | USO1 | c.*279T>C | - | 3-UTRSNV | 24/24 | - |
10-81917486-T-C | ANXA11 | c.1369A>G | p.Ile457Val | Missense | 16/17 | - |
14-103194552-A-C | RCOR1 | c.*1709A>C | - | 3-UTRSNV | 12/12 | - |
16-75642801-G-A | ADAT1 | c.1129C>T | p.Arg377Cys | Missense | 8/11 | - |
11-102268628-C-G | TMEM123 | c.*970G>C | - | 3-UTRSNV | 5/5 | - |
11-102268628-C-T | TMEM123 | c.*970G>A | - | 3-UTRSNV | 5/5 | - |
16-27373915-G-T | IL4R | c.1242G>T | p.Leu414Leu | Synonymous | 11/11 | - |
6-29523676-C-A | UBD | c.479G>T | p.Cys160Phe | Missense | 2/2 | - |
X-19378093-G-A | PDHA1 | c.*322G>A | - | 3-UTRSNV | 11/11 | - |
12-113535394-C-G | DTX1 | c.*650C>G | - | 3-UTRSNV | 9/9 | - |
11-118404804-G-A | TMEM25 | c.897G>A | p.Pro299Pro | Synonymous | 7/9 | - |
1-55207918-C-A | TTC4 | c.*732C>A | - | 3-UTRSNV | 10/10 | - |
3-122290800-C-T | DTX3L | c.*206C>T | - | 3-UTRSNV | 5/5 | - |
4-130030783-C-T | C4orf33 | c.450C>T | p.Tyr150Tyr | Synonymous | 5/6 | - |
12-133349028-G-T | GOLGA3 | c.*663C>A | - | 3-UTRSNV | 24/24 | - |
3-42610515-G-A | SEC22C | c.24C>T | p.Cys8Cys | Synonymous | 2/7 | - |
17-40459737-C-T | STAT5A | c.1902C>T | p.Asp634Asp | Synonymous | 16/20 | - |
1-150429944-A-G | RPRD2 | c.1051A>G | p.Met351Val | Missense | 8/11 | - |
18-33570611-G-A | RPRD1A | c.*2503C>T | - | 3-UTRSNV | 7/7 | - |
9-130674756-G-C | ST6GALNAC4 | c.150C>G | p.Arg50Arg | Synonymous | 3/5 | - |
14-51722826-G-C | TMX1 | c.*1589G>C | - | 3-UTRSNV | 8/8 | - |
22-36058301-C-G | APOL6 | c.*2658C>G | - | 3-UTRSNV | 3/3 | - |
16-58552959-A-G | SETD6 | c.*26A>G | - | 3-UTRSNV | 9/9 | - |
22-36058301-C-T | APOL6 | c.*2658C>T | - | 3-UTRSNV | 3/3 | - |
22-36064047-A-G | APOL6 | c.*8404A>G | - | 3-UTRSNV | 3/3 | - |
9-91973967-G-T | SECISBP2 | c.*228G>T | - | 3-UTRSNV | 17/17 | - |
16-630902-C-T | PIGQ | c.1461C>T | p.Leu487Leu | Synonymous | 9/11 | - |
3-133327457-T-C | TOPBP1 | c.4347A>G | p.Ser1449Ser | Synonymous | 27/28 | - |
15-41773741-G-T | RTF1 | c.*856G>T | - | 3-UTRSNV | 18/18 | - |
21-47685317-G-A | MCM3AP | c.3152C>T | p.Pro1051Leu | Missense | 12/28 | - |
16-630902-C-G | PIGQ | c.1461C>G | p.Leu487Leu | Synonymous | 9/11 | - |
7-112102355-T-C | IFRD1 | c.828T>C | p.Ser276Ser | Synonymous | 8/12 | - |
7-112102355-T-G | IFRD1 | c.828T>G | p.Ser276Ser | Synonymous | 8/12 | - |
5-70858194-C-T | BDP1 | c.7590C>T | p.Arg2530Arg | Synonymous | 38/39 | - |
12-95681597-G-A | VEZT | c.1486G>A | p.Val496Ile | Missense | 9/12 | - |
1-203277053-G-A | BTG2 | c.*487G>A | - | 3-UTRSNV | 2/2 | - |
5-70858194-C-G | BDP1 | c.7590C>G | p.Arg2530Arg | Synonymous | 38/39 | - |
11-102201850-G-A | BIRC3 | c.1202G>A | p.Arg401Lys | Missense | 6/9 | - |
15-81601745-G-T | IL16 | c.*606G>T | - | 3-UTRSNV | 19/19 | - |
2-191383778-G-A | NEMP2 | c.345C>T | p.Asn115Asn | Synonymous | 3/9 | - |
7-44922737-T-C | PURB | c.*1272A>G | - | 3-UTRSNV | 1/1 | - |
5-71495041-T-C | MAP1B | c.5859T>C | p.Gly1953Gly | Synonymous | 5/7 | - |
5-71495041-T-A | MAP1B | c.5859T>A | p.Gly1953Gly | Synonymous | 5/7 | - |
11-6478619-G-A | TRIM3 | c.603C>T | p.Ile201Ile | Synonymous | 6/13 | - |
12-5155663-A-T | KCNA5 | c.*508A>T | - | 3-UTRSNV | 1/1 | - |
19-53642708-A-G | ZNF347 | c.*853T>C | - | 3-UTRSNV | 5/5 | - |
19-3661916-G-A | PIP5K1C | c.303C>T | p.Asp101Asp | Synonymous | 4/18 | - |
3-43345175-G-A | SNRK | c.480G>A | p.Gly160Gly | Synonymous | 3/7 | - |
19-39329205-C-T | HNRNPL | c.990G>A | p.Gln330Gln | Synonymous | 10/13 | - |
12-56634583-C-G | ANKRD52 | c.*2343G>C | - | 3-UTRSNV | 28/28 | - |
12-124499839-C-T | ZNF664 | c.*2362C>T | - | 3-UTRSNV | 5/5 | - |
7-44922737-T-G | PURB | c.*1272A>C | - | 3-UTRSNV | 1/1 | - |
12-124499542-G-A | ZNF664 | c.*2065G>A | - | 3-UTRSNV | 5/5 | - |
11-6676884-A-G | DCHS1 | c.-211T>C | - | 5_prime_UTR_variant | 1/21 | - |
16-19548116-G-A | CCP110 | c.1125G>A | p.Met375Ile | Missense | 5/15 | - |
11-57102096-A-G | SSRP1 | c.81T>C | p.Arg27Arg | Synonymous | 3/17 | - |
1-175127582-C-T | KIAA0040 | c.*2268G>A | - | 3-UTRSNV | 4/4 | - |
11-214544-C-T | RIC8A | c.*194C>T | - | 3-UTRSNV | 10/10 | - |
7-1607259-T-C | PSMG3 | c.*75A>G | - | 3-UTRSNV | 2/2 | - |
12-4923697-G-T | KCNA6 | c.*2900G>T | - | 3-UTRSNV | 1/2 | - |
16-57060213-C-T | NLRC5 | c.1358C>T | p.Pro453Leu | Missense | 5/48 | - |
7-75957644-C-A | YWHAG | c.*1250G>T | - | 3-UTRSNV | 2/2 | - |
12-285027-C-A | IQSEC3 | c.*828C>A | - | 3-UTRSNV | 14/14 | - |
6-37299648-G-A | TBC1D22B | c.*700G>A | - | 3-UTRSNV | 13/13 | - |
17-30327013-G-C | SUZ12 | c.*991G>C | - | 3-UTRSNV | 16/16 | - |
12-109994870-A-T | MMAB | c.716T>A | p.Met239Lys | Missense | 9/9 | - |
3-120049048-G-C | LRRC58 | c.*999C>G | - | 3-UTRSNV | 4/4 | - |
7-100958324-A-C | IFT22 | c.*91T>G | - | 3-UTRSNV | 5/5 | - |
11-27518123-C-T | LIN7C | c.*2073G>A | - | 3-UTRSNV | 5/5 | - |
20-56223607-G-C | PMEPA1 | c.*3502C>G | - | 3-UTRSNV | 4/4 | - |
16-57060340-T-G | NLRC5 | c.1485T>G | p.Thr495Thr | Synonymous | 5/48 | - |
12-133780851-G-A | ZNF268 | c.*2103G>A | - | 3-UTRSNV | 7/7 | - |
11-61919693-C-T | INCENP | c.*245C>T | - | 3-UTRSNV | 18/18 | - |
3-42610374-A-G | SEC22C | c.165T>C | p.Gly55Gly | Synonymous | 2/7 | - |
13-30086497-T-C | SLC7A1 | c.*2120A>G | - | 3-UTRSNV | 13/13 | - |
17-47297537-C-T | ABI3 | c.651C>T | p.Ala217Ala | Synonymous | 6/8 | - |
16-57060353-T-C | NLRC5 | c.1498T>C | p.Cys500Arg | Missense | 5/48 | - |
9-114803333-G-C | SUSD1 | c.*439C>G | - | 3-UTRSNV | 17/17 | - |
19-54378248-C-T | MYADM | c.*496C>T | - | 3-UTRSNV | 3/3 | - |
1-205739200-C-T | RAB29 | c.*270G>A | - | 3-UTRSNV | 6/6 | - |
12-77245749-A-G | ZDHHC17 | c.*984A>G | - | 3-UTRSNV | 17/17 | - |
9-136216882-G-A | RPL7A | c.390G>A | p.Thr130Thr | Synonymous | 4/8 | - |
12-107367439-A-G | TMEM263 | c.*2270A>G | - | 3-UTRSNV | 4/4 | - |
1-234740880-C-T | IRF2BP2 | c.*2003G>A | - | 3-UTRSNV | 2/2 | - |
13-99101389-C-A | FARP1 | c.*818C>A | - | 3-UTRSNV | 27/27 | - |
2-242435042-C-A | STK25 | c.*35G>T | - | 3-UTRSNV | 12/12 | - |
1-157543878-G-A | FCRL4 | c.*1436C>T | - | 3-UTRSNV | 12/12 | - |
12-133245032-A-T | POLE | c.2083T>A | p.Phe695Ile | Missense | 19/49 | - |
2-231742214-C-G | ITM2C | c.661C>G | p.Leu221Val | Missense | 5/6 | - |
12-133245032-A-C | POLE | c.2083T>G | p.Phe695Val | Missense | 19/49 | - |
12-133245032-A-G | POLE | c.2083T>C | p.Phe695Leu | Missense | 19/49 | - |
6-31611746-G-C | BAG6 | c.1569C>G | p.Ala523Ala | Synonymous | 13/25 | - |
9-72933774-A-G | SMC5 | c.2045A>G | p.His682Arg | Missense | 15/25 | - |
22-45767421-C-T | SMC1B | c.2243G>A | p.Cys748Tyr | Missense | 14/25 | - |
9-140077639-G-T | ANAPC2 | c.1224C>A | p.Arg408Arg | Synonymous | 6/13 | - |
9-37862778-G-A | DCAF10 | c.*1273G>A | - | 3-UTRSNV | 7/7 | - |
18-72999404-C-G | TSHZ1 | c.1907C>G | p.Pro636Arg | Missense | 2/2 | - |
7-127991133-G-T | PRRT4 | c.*153C>A | - | 3-UTRSNV | 6/6 | - |
15-74005600-C-T | CD276 | c.*303C>T | - | 3-UTRSNV | 8/8 | - |
9-37861794-C-A | DCAF10 | c.*289C>A | - | 3-UTRSNV | 7/7 | - |
9-130670312-C-T | ST6GALNAC4 | c.*359G>A | - | 3-UTRSNV | 5/5 | - |
10-105205356-C-T | PDCD11 | c.*50C>T | - | 3-UTRSNV | 36/36 | - |
12-109973981-G-A | UBE3B | c.*1394G>A | - | 3-UTRSNV | 28/28 | - |
12-109973981-G-T | UBE3B | c.*1394G>T | - | 3-UTRSNV | 28/28 | - |
9-130670312-C-A | ST6GALNAC4 | c.*359G>T | - | 3-UTRSNV | 5/5 | - |
16-31885186-C-G | ZNF267 | c.1-102C>G | - | 5-UTRSNV | 1/4 | - |
1-154556040-T-G | ADAR | c.*1242A>C | - | 3-UTRSNV | 15/15 | - |
19-7747129-G-C | TRAPPC5 | c.1-11G>C | - | 5-UTRSNV | 2/2 | - |
1-29444544-G-A | EPB41 | c.*1220G>A | - | 3_prime_UTR_variant | 21/21 | - |
1-29444544-G-C | EPB41 | c.*1220G>C | - | 3_prime_UTR_variant | 21/21 | - |
17-7220881-C-A | NEURL4 | c.4217G>T | p.Arg1406Leu | Missense | 27/29 | - |
19-53301677-A-G | ZNF28 | c.*1264T>C | - | 3-UTRSNV | 4/4 | - |
19-13035722-T-C | FARSA | c.1022A>G | p.Gln341Arg | Missense | 9/13 | - |
X-53117303-G-A | TSPYL2 | c.*182G>A | - | 3-UTRSNV | 7/7 | - |
6-158364859-G-A | SNX9 | c.*989G>A | - | 3-UTRSNV | 18/18 | - |
5-183516-A-G | PLEKHG4B | c.*1078A>G | - | 3-UTRSNV | 20/20 | - |
14-77976450-T-G | SPTLC2 | c.*2177A>C | - | 3-UTRSNV | 12/12 | - |
1-205501843-A-C | CDK18 | c.*1337A>C | - | 3-UTRSNV | 16/16 | - |
6-44227810-C-T | NFKBIE | c.990G>A | - | synonymous_variant | 5/6 | - |
1-27878162-C-T | AHDC1 | c.465G>A | p.Pro155Pro | Synonymous | 6/7 | - |
21-38887206-C-T | DYRK1A | c.*2372C>T | - | 3-UTRSNV | 12/12 | - |
1-205738843-C-T | RAB29 | c.*627G>A | - | 3-UTRSNV | 6/6 | - |
3-197432036-C-G | RUBCN | c.50G>C | p.Arg17Pro | Missense | 3/21 | - |
9-740901-C-A | KANK1 | c.3663C>A | p.Phe1221Leu | Missense | 9/12 | - |
5-53813830-A-C | SNX18 | c.48A>C | p.Pro16Pro | Synonymous | 1/2 | - |
4-87968515-G-A | AFF1 | c.807G>A | p.Pro269Pro | Synonymous | 3/20 | - |
9-740901-C-T | KANK1 | c.3663C>T | p.Phe1221Phe | Synonymous | 9/12 | - |
17-27613677-G-A | NUFIP2 | c.1335C>T | p.Pro445Pro | Synonymous | 2/4 | - |
6-32813161-G-C | TAP1 | c.*195C>G | - | 3-UTRSNV | 11/11 | - |
11-35201842-C-G | CD44 | c.255C>G | p.His85Gln | Missense | 3/18 | - |
1-150448766-G-C | RPRD2 | c.*2956G>C | - | 3-UTRSNV | 11/11 | - |
11-35201842-C-A | CD44 | c.255C>A | p.His85Gln | Missense | 3/18 | - |
11-35201842-C-T | CD44 | c.255C>T | p.His85His | Synonymous | 3/18 | - |
2-1636904-C-T | PXDN | c.*1072G>A | - | 3-UTRSNV | 23/23 | - |
7-1192572-C-A | ZFAND2A | c.*133G>T | - | 3-UTRSNV | 5/5 | - |
12-109974264-G-A | UBE3B | c.*1677G>A | - | 3-UTRSNV | 28/28 | - |
22-30091145-T-C | NF2 | c.*354T>C | - | 3-UTRSNV | 16/16 | - |
19-40946961-C-G | SERTAD3 | c.*436G>C | - | 3-UTRSNV | 2/2 | - |
18-13055915-A-C | CEP192 | c.3326A>C | p.Gln1109Pro | Missense | 19/45 | - |
9-136915508-C-A | BRD3 | c.702G>T | p.Pro234Pro | Synonymous | 5/12 | - |
9-136915508-C-T | BRD3 | c.702G>A | p.Pro234Pro | Synonymous | 5/12 | - |
4-87968515-G-T | AFF1 | c.807G>T | p.Pro269Pro | Synonymous | 3/20 | - |
6-7612038-C-T | SNRNP48 | c.*2932C>T | - | 3-UTRSNV | 9/9 | - |
13-39584728-C-G | PROSER1 | c.*774G>C | - | 3-UTRSNV | 13/13 | - |
19-1852494-C-T | KLF16 | c.*1964G>A | - | 3-UTRSNV | 2/2 | - |
5-140699057-G-A | TAF7 | c.555C>T | p.Ala185Ala | Synonymous | 1/1 | - |
19-5137298-G-A | KDM4B | c.2334G>A | p.Leu778Leu | Synonymous | 16/23 | - |
16-56873495-C-T | NUP93 | c.2199C>T | p.Ala733Ala | Synonymous | 20/22 | - |
2-71351487-G-A | MCEE | c.227C>T | p.Ala76Val | Missense | 2/3 | - |
4-169317225-T-C | DDX60L | c.3542A>G | p.Tyr1181Cys | Missense | 27/38 | - |
3-179115501-A-T | GNB4 | c.*3500T>A | - | 3-UTRSNV | 10/10 | - |
9-123525175-A-C | FBXW2 | c.*1662T>G | - | 3-UTRSNV | 8/8 | - |
6-26469445-G-A | BTN2A1 | c.*668G>A | - | 3-UTRSNV | 8/8 | - |
3-120115286-T-C | FSTL1 | c.*513A>G | - | 3-UTRSNV | 11/11 | - |
3-120115286-T-G | FSTL1 | c.*513A>C | - | 3-UTRSNV | 11/11 | - |
8-59363105-G-A | UBXN2B | c.*2995G>A | - | 3-UTRSNV | 8/8 | - |
19-18124055-C-G | ARRDC2 | c.*280C>G | - | 3-UTRSNV | 8/8 | - |
12-109994870-A-G | MMAB | c.716T>C | p.Met239Thr | Missense | 9/9 | - |
3-107526182-T-C | BBX | c.*1878T>C | - | 3-UTRSNV | 17/17 | - |
17-61771631-T-C | MAP3K3 | c.*494T>C | - | 3-UTRSNV | 16/16 | - |
12-124422262-G-A | CCDC92 | c.339C>T | p.Asn113Asn | Synonymous | 5/5 | - |
8-126021414-A-T | SQLE | c.937A>T | p.Asn313Tyr | Missense | 6/11 | - |
9-136207843-C-T | MED22 | c.*512G>A | - | 3-UTRSNV | 5/5 | - |
7-26230289-C-T | HNRNPA2B1 | c.*1691G>A | - | 3_prime_UTR_variant | 11/11 | - |
1-25570081-T-C | RSRP1 | c.716A>G | p.Glu239Gly | Missense | 4/5 | - |
1-117119741-T-A | IGSF3 | c.*193A>T | - | 3-UTRSNV | 12/12 | - |
4-185615532-A-T | CENPU | c.*910T>A | - | 3-UTRSNV | 13/13 | - |
7-1195215-A-C | ZFAND2A | c.156T>G | p.Val52Val | Synonymous | 4/5 | - |
9-37865943-A-G | DCAF10 | c.*4438A>G | - | 3-UTRSNV | 7/7 | - |
2-238672938-T-C | LRRFIP1 | c.*155T>C | - | 3-UTRSNV | 10/10 | - |
13-46109026-T-A | COG3 | c.*160T>A | - | 3-UTRSNV | 23/23 | - |
22-35815880-G-T | MCM5 | c.1707G>T | p.Lys569Asn | Missense | 14/17 | - |
12-7247728-G-C | C1RL | c.*1259C>G | - | 3-UTRSNV | 6/6 | - |
5-66478729-A-G | CD180 | c.1942T>C | p.Phe648Leu | Missense | 3/3 | - |
7-30405941-C-T | ZNRF2 | c.*313C>T | - | 3_prime_UTR_variant | 5/5 | - |
12-7247728-G-A | C1RL | c.*1259C>T | - | 3-UTRSNV | 6/6 | - |
12-7247728-G-T | C1RL | c.*1259C>A | - | 3-UTRSNV | 6/6 | - |
9-32459450-T-G | DDX58 | c.2400A>C | p.Val800Val | Synonymous | 17/18 | - |
9-32459450-T-A | DDX58 | c.2400A>T | p.Val800Val | Synonymous | 17/18 | - |
7-151074296-A-G | NUB1 | c.1863A>G | p.Ala621Ala | Synonymous | 15/15 | - |
5-150480520-C-T | ANXA6 | c.*489G>A | - | 3-UTRSNV | 26/26 | - |
17-73900688-T-A | MRPL38 | c.180A>T | p.Arg60Arg | Synonymous | 2/9 | - |
17-73900688-T-C | MRPL38 | c.180A>G | p.Arg60Arg | Synonymous | 2/9 | - |
2-139327055-A-G | SPOPL | c.*405A>G | - | 3-UTRSNV | 11/11 | - |
22-17590269-C-T | IL17RA | c.2160C>T | p.Pro720Pro | Synonymous | 13/13 | - |
22-17590269-C-G | IL17RA | c.2160C>G | p.Pro720Pro | Synonymous | 13/13 | - |
9-123716103-T-C | C5 | c.4806A>G | p.Lys1602Lys | Synonymous | 40/41 | - |
13-103513944-A-G | ERCC5 | c.760A>G | p.Met254Val | Missense | 7/15 | - |
19-12760200-G-A | MAN2B1 | c.2310C>T | p.Pro770Pro | Synonymous | 19/24 | - |
1-204523263-C-A | MDM4 | c.*4453C>A | - | 3-UTRSNV | 11/11 | - |
4-187132520-C-T | CYP4V2 | c.*725C>T | - | 3-UTRSNV | 11/11 | - |
17-42283171-A-G | UBTF | c.*1439T>C | - | 3-UTRSNV | 21/21 | - |
12-122817580-A-G | CLIP1 | c.2788T>C | p.Ser930Pro | Missense | 14/25 | - |
1-168169452-G-C | TIPRL | c.*168G>C | - | 3-UTRSNV | 7/7 | - |
1-168169452-G-A | TIPRL | c.*168G>A | - | 3-UTRSNV | 7/7 | - |
8-11702122-G-C | CTSB | c.*512C>G | - | 3-UTRSNV | 12/12 | - |
9-139348749-G-A | SEC16A | c.5888C>T | p.Ala1963Val | Missense | 21/32 | - |
8-8654898-C-G | MFHAS1 | c.3102G>C | p.Pro1034Pro | Synonymous | 2/3 | - |
19-18234789-C-T | MAST3 | c.587C>T | p.Thr196Met | Missense | 8/27 | - |
4-78532232-T-C | CXCL13 | c.*39T>C | - | 3-UTRSNV | 5/5 | - |
4-699645-C-G | PCGF3 | c.-304C>G | - | 5_prime_UTR_variant | 1/11 | - |
8-22106651-T-G | POLR3D | c.750T>G | p.Ser250Ser | Synonymous | 7/9 | - |
4-20728966-G-C | PACRGL | c.*2G>C | - | 3-UTRSNV | 8/8 | - |
11-43941777-C-G | ALKBH3 | c.*217C>G | - | 3-UTRSNV | 10/10 | - |
2-65311031-A-G | CEP68 | c.*263A>G | - | 3_prime_UTR_variant | 7/7 | - |
12-1893170-C-T | ADIPOR2 | c.963C>T | p.Tyr321Tyr | Synonymous | 7/8 | - |
3-105258861-A-G | ALCAM | c.773A>G | p.Asn258Ser | Missense | 7/16 | - |
14-21250212-T-C | RNASE6 | c.354T>C | p.Ala118Ala | Synonymous | 2/2 | - |
3-105258861-A-T | ALCAM | c.773A>T | p.Asn258Ile | Missense | 7/16 | - |
20-18523002-C-T | SEC23B | c.1467C>T | p.His489His | Synonymous | 13/20 | - |
16-633354-G-GCA | PIGQ | c.1746+319_1746+320insCA | - | 3-UTRInsertion | 11/11 | - |
20-18523002-C-G | SEC23B | c.1467C>G | p.His489Gln | Missense | 13/20 | - |
X-71708816-A-G | HDAC8 | c.704T>C | p.Ile235Thr | Missense | 7/11 | - |
6-33048255-G-A | HLA-DPB1 | c.101-194G>A | - | IntronicSNV | - | 1/5 |
1-7841330-G-A | VAMP3 | c.*1625G>A | - | 3-UTRSNV | 5/5 | - |
5-150562526-A-C | CCDC69 | c.*472T>G | - | 3-UTRSNV | 9/9 | - |
22-51017394-G-C | CHKB | c.*216C>G | - | 3-UTRSNV | 11/11 | - |
6-31236900-G-A | HLA-C | c.*46C>T | - | 3-UTRSNV | 8/8 | - |
6-31236900-G-C | HLA-C | c.*46C>G | - | 3-UTRSNV | 8/8 | - |
5-108672946-C-T | PJA2 | c.2113G>A | p.Ala705Thr | Missense | 10/10 | - |
4-1729988-G-A | TACC3 | c.859G>A | p.Gly287Ser | Missense | 4/16 | - |
18-12308793-G-C | TUBB6 | c.165G>C | p.Ser55Ser | Synonymous | 2/4 | - |
12-8673745-A-C | CLEC4D | c.526A>C | p.Asn176His | Missense | 6/6 | - |
9-37866632-G-A | DCAF10 | c.*5127G>A | - | 3-UTRSNV | 7/7 | - |
2-231742214-C-T | ITM2C | c.661C>T | p.Leu221Leu | Synonymous | 5/6 | - |
2-1637531-A-C | PXDN | c.*445T>G | - | 3-UTRSNV | 23/23 | - |
5-109202725-A-G | MAN2A1 | c.*26A>G | - | 3-UTRSNV | 22/22 | - |
1-9097251-A-G | SLC2A5 | c.*394T>C | - | 3-UTRSNV | 12/12 | - |
X-48567295-A-C | SUV39H1 | c.*1334A>C | - | 3-UTRSNV | 6/6 | - |
5-184702-A-G | PLEKHG4B | c.*2264A>G | - | 3-UTRSNV | 20/20 | - |
1-203276998-C-T | BTG2 | c.*432C>T | - | 3-UTRSNV | 2/2 | - |
16-15961084-C-T | FOPNL | c.*213G>A | - | 3-UTRSNV | 5/5 | - |
16-15961084-C-G | FOPNL | c.*213G>C | - | 3-UTRSNV | 5/5 | - |
1-203276998-C-G | BTG2 | c.*432C>G | - | 3-UTRSNV | 2/2 | - |
6-88858521-A-G | CNR1 | c.-206-996T>C | - | intron_variant | - | 1/2 |
12-104709559-C-T | TXNRD1 | c.321C>T | p.Leu107Leu | Synonymous | 5/15 | - |
6-88858521-A-T | CNR1 | c.-206-996T>A | - | intron_variant | - | 1/2 |
18-60985879-T-C | BCL2 | c.21A>G | p.Thr7Thr | Synonymous | 2/3 | - |
4-76405595-G-A | RCHY1 | c.*2153C>T | - | 3-UTRSNV | 9/9 | - |
15-45653592-A-G | GATM | c.*715T>C | - | 3-UTRSNV | 9/9 | - |
22-20761976-T-A | ZNF74 | c.*718T>A | - | 3-UTRSNV | 5/5 | - |
12-56531154-T-C | ESYT1 | c.1935T>C | p.Thr645Thr | Synonymous | 17/31 | - |
1-89401613-T-G | KYAT3 | c.*253A>C | - | 3-UTRSNV | 14/14 | - |
19-4445156-A-T | UBXN6 | c.*339T>A | - | 3-UTRSNV | 11/11 | - |
19-38872778-C-T | PSMD8 | c.825C>T | p.Ile275Ile | Synonymous | 6/7 | - |
18-3457539-A-G | TGIF1 | c.807A>G | p.Pro269Pro | Synonymous | 3/3 | - |
1-9328495-C-T | H6PD | c.*3567C>T | - | 3-UTRSNV | 5/5 | - |
9-136277482-T-G | REXO4 | c.395-1289A>C | - | IntronicSNV | - | 2/5 |
16-1838037-C-G | NUBP2 | c.585C>G | p.Thr195Thr | Synonymous | 5/7 | - |
1-114438951-A-G | AP4B1 | c.1439T>C | p.Leu480Ser | Missense | 9/11 | - |
16-1838037-C-A | NUBP2 | c.585C>A | p.Thr195Thr | Synonymous | 5/7 | - |
16-27373872-A-C | IL4R | c.1199A>C | p.Glu400Ala | Missense | 11/11 | - |
4-38946019-T-C | FAM114A1 | c.*841T>C | - | 3-UTRSNV | 15/15 | - |
12-107372277-C-T | MTERF2 | c.216G>A | p.Glu72Glu | Synonymous | 3/3 | - |
20-60776262-G-A | MTG2 | c.*129G>A | - | 3-UTRSNV | 7/7 | - |
9-104309445-T-C | RNF20 | c.921T>C | p.Tyr307Tyr | Synonymous | 8/20 | - |
16-21289626-C-G | CRYM | c.1-54G>C | - | 5-UTRSNV | 3/10 | - |
14-20872863-A-G | TEP1 | c.939T>C | p.Ala313Ala | Synonymous | 5/55 | - |
5-53813830-A-G | SNX18 | c.48A>G | p.Pro16Pro | Synonymous | 1/2 | - |
8-91969669-C-T | NECAB1 | c.*1929C>T | - | 3-UTRSNV | 13/13 | - |
8-91969669-C-G | NECAB1 | c.*1929C>G | - | 3-UTRSNV | 13/13 | - |
18-44392264-G-A | PIAS2 | c.*132C>T | - | 3-UTRSNV | 14/14 | - |
21-47552527-G-A | COL6A2 | c.*61G>A | - | 3-UTRSNV | 28/28 | - |
7-66406721-T-G | TMEM248 | c.1-132T>G | - | IntronicSNV | 1/7 | - |
9-21854740-C-T | MTAP | c.561C>T | p.Arg187Arg | Synonymous | 6/8 | - |
1-86118938-T-C | ZNHIT6 | c.*803A>G | - | 3-UTRSNV | 10/10 | - |
19-12739045-C-T | ZNF791 | c.702C>T | p.His234His | Synonymous | 4/4 | - |
6-30035089-C-A | PPP1R11 | c.1-99C>A | - | 5-UTRSNV | 1/3 | - |
7-99693552-G-A | MCM7 | c.912C>T | p.Ala304Ala | Synonymous | 10/14 | - |
3-44487545-C-T | ZNF445 | c.*522G>A | - | 3-UTRSNV | 8/8 | - |
17-73942150-A-T | ACOX1 | c.*679T>A | - | 3-UTRSNV | 14/14 | - |
2-86368392-C-T | PTCD3 | c.*3710C>T | - | 3-UTRSNV | 24/24 | - |
6-31935567-G-T | SKIV2L | c.2659G>T | p.Asp887Tyr | Missense | 22/28 | - |
5-70800475-C-T | BDP1 | c.2269C>T | p.Arg757Cys | Missense | 16/39 | - |
19-48954421-G-A | GRWD1 | c.956G>A | p.Arg319Gln | Missense | 6/7 | - |
1-15755676-G-A | EFHD2 | c.*456G>A | - | 3-UTRSNV | 4/4 | - |
13-30779889-G-C | KATNAL1 | c.*2788C>G | - | 3-UTRSNV | 11/11 | - |
4-187113041-C-T | CYP4V2 | c.64C>T | p.Leu22Phe | Missense | 1/11 | - |
3-44871505-A-T | KIF15 | c.2986A>T | p.Thr996Ser | Missense | 25/35 | - |
17-47297537-C-A | ABI3 | c.651C>A | p.Ala217Ala | Synonymous | 6/8 | - |
1-201104589-A-G | TMEM9 | c.*202T>C | - | 3-UTRSNV | 6/6 | - |
6-52363615-G-A | TRAM2 | c.*4380C>T | - | 3-UTRSNV | 11/11 | - |
6-52363615-G-C | TRAM2 | c.*4380C>G | - | 3-UTRSNV | 11/11 | - |
4-178281754-G-A | NEIL3 | c.1558G>A | p.Gly520Arg | Missense | 9/10 | - |
19-4443046-T-C | CHAF1A | c.*24T>C | - | 3-UTRSNV | 15/15 | - |
4-156274377-T-C | MAP9 | c.1496A>G | p.Lys499Arg | Missense | 11/14 | - |
1-37959499-G-C | MEAF6 | c.*201C>G | - | 3-UTRSNV | 8/8 | - |
22-17589209-C-T | IL17RA | c.1100C>T | p.Ala367Val | Missense | 13/13 | - |
3-121238749-G-A | POLQ | c.1437C>T | p.Gly479Gly | Synonymous | 9/30 | - |
6-31935567-G-A | SKIV2L | c.2659G>A | p.Asp887Asn | Missense | 22/28 | - |
16-71318577-T-C | CMTR2 | c.1247A>G | p.Asn416Ser | Missense | 3/3 | - |
12-6857289-G-A | MLF2 | c.*450C>T | - | 3_prime_UTR_variant | 9/9 | - |
17-34432663-A-G | CCL4 | c.237A>G | p.Glu79Glu | Synonymous | 3/3 | - |
12-50848132-T-A | LARP4 | c.1053T>A | p.Phe351Leu | Missense | 10/16 | - |
2-223386578-C-T | SGPP2 | c.471C>T | p.Ile157Ile | Synonymous | 3/5 | - |
4-177241136-C-T | SPCS3 | c.1-92C>T | - | 5-UTRSNV | 1/5 | - |
1-15850603-G-A | CASP9 | c.-118+475C>T | - | intron_variant | - | 1/8 |
7-44841924-T-G | PPIA | c.*903T>G | - | 3-UTRSNV | 5/5 | - |
15-67358478-G-C | SMAD3 | c.1-15G>C | - | 5-UTRSNV | 1/9 | - |
15-67358478-G-A | SMAD3 | c.1-15G>A | - | 5-UTRSNV | 1/9 | - |
12-96672743-G-T | CDK17 | c.*1277C>A | - | 3-UTRSNV | 17/17 | - |
15-41573347-G-A | CHP1 | c.*1760G>A | - | 3-UTRSNV | 7/7 | - |
1-79111419-G-C | IFI44L | c.*3925G>C | - | 3-UTRSNV | 9/9 | - |
15-59453384-T-C | MYO1E | c.2673A>G | p.Ala891Ala | Synonymous | 24/28 | - |
5-1462098-A-G | LPCAT1 | c.*1668T>C | - | 3-UTRSNV | 14/14 | - |
20-4833503-C-G | SLC23A2 | c.*4115G>C | - | 3-UTRSNV | 17/17 | - |
1-79111419-G-T | IFI44L | c.*3925G>T | - | 3-UTRSNV | 9/9 | - |
11-77815059-A-G | ALG8 | c.1316T>C | p.Ile439Thr | Missense | 12/13 | - |
7-91502407-C-G | MTERF1 | c.*501G>C | - | 3-UTRSNV | 3/3 | - |
7-27832708-C-G | TAX1BP1 | c.1287C>G | p.His429Gln | Missense | 10/17 | - |
6-158930217-C-T | TULP4 | c.*2491C>T | - | 3-UTRSNV | 14/14 | - |
20-43123028-G-A | TTPAL | c.*4846G>A | - | 3-UTRSNV | 6/6 | - |
3-44881909-A-G | KIF15 | c.3381A>G | p.Gln1127Gln | Synonymous | 28/35 | - |
2-11966317-T-C | LPIN1 | c.*1400T>C | - | 3-UTRSNV | 20/20 | - |
3-439963-A-G | CHL1 | c.3148A>G | p.Ile1050Val | Missense | 25/28 | - |
14-31916792-C-T | DTD2 | c.*543G>A | - | 3-UTRSNV | 3/3 | - |
17-76113954-G-A | TMC6 | c.1950C>T | p.Thr650Thr | Synonymous | 16/20 | - |
8-103218688-A-C | RRM2B | c.*1673T>G | - | 3-UTRSNV | 9/9 | - |
17-30326360-A-C | SUZ12 | c.*338A>C | - | 3-UTRSNV | 16/16 | - |
5-14509047-G-A | TRIO | c.*516G>A | - | 3-UTRSNV | 57/57 | - |
12-40740686-A-T | LRRK2 | c.6241A>T | p.Asn2081Tyr | Missense | 42/51 | - |
4-80827636-A-G | ANTXR2 | c.*947T>C | - | 3-UTRSNV | 17/17 | - |
3-136088038-G-A | STAG1 | c.2457C>T | p.Phe819Phe | Synonymous | 24/34 | - |
10-49929331-G-C | WDFY4 | c.375G>C | p.Gln125His | Missense | 4/62 | - |
7-18631186-C-T | HDAC9 | c.580C>T | p.Leu194Leu | Synonymous | 7/13 | - |
8-107764425-T-C | OXR1 | c.*1256T>C | - | 3-UTRSNV | 14/14 | - |
1-15909744-C-T | AGMAT | c.419G>A | p.Arg140Gln | Missense | 2/7 | - |
19-18288810-A-G | IFI30 | c.*89A>G | - | 3-UTRSNV | 7/7 | - |
20-62219121-C-T | GMEB2 | c.*2321G>A | - | 3-UTRSNV | 10/10 | - |
15-100255104-G-T | MEF2A | c.*2128G>T | - | 3-UTRSNV | 10/10 | - |
19-18288810-A-C | IFI30 | c.*89A>C | - | 3-UTRSNV | 7/7 | - |
1-180082269-G-T | CEP350 | c.*1973G>T | - | 3-UTRSNV | 38/38 | - |
3-197401615-C-T | RUBCN | c.*274G>A | - | 3-UTRSNV | 21/21 | - |
2-239147036-C-G | HES6 | c.*432G>C | - | 3-UTRSNV | 4/4 | - |
20-37396114-A-G | ACTR5 | c.1441A>G | p.Lys481Glu | Missense | 8/9 | - |
9-140611436-T-C | EHMT1 | c.444T>C | p.Pro148Pro | Synonymous | 3/27 | - |
5-137804635-T-A | EGR1 | c.*865T>A | - | 3-UTRSNV | 2/2 | - |
16-3627358-C-T | NLRC3 | c.-377G>A | - | 5_prime_UTR_variant | 1/21 | - |
18-56416054-T-C | MALT1 | c.*980T>C | - | 3-UTRSNV | 17/17 | - |
16-9202241-C-G | C16orf72 | c.583+5125C>G | - | IntronicSNV | - | 3/3 |
5-137804635-T-C | EGR1 | c.*865T>C | - | 3-UTRSNV | 2/2 | - |
9-93660398-T-G | SYK | c.*2516T>G | - | 3-UTRSNV | 13/13 | - |
4-20729689-T-C | PACRGL | c.*725T>C | - | 3-UTRSNV | 8/8 | - |
12-92537956-T-C | BTG1 | c.416A>G | p.Asn139Ser | Missense | 2/2 | - |
10-32580205-C-T | EPC1 | c.861G>A | p.Met287Ile | Missense | 6/14 | - |
3-440028-T-C | CHL1 | c.3213T>C | p.Asn1071Asn | Synonymous | 25/28 | - |
3-440028-T-G | CHL1 | c.3213T>G | p.Asn1071Lys | Missense | 25/28 | - |
2-44115183-T-C | LRPPRC | c.*556A>G | - | 3-UTRSNV | 38/38 | - |
1-234740975-G-A | IRF2BP2 | c.*1908C>T | - | 3-UTRSNV | 2/2 | - |
17-42153562-G-A | G6PC3 | c.*151G>A | - | 3-UTRSNV | 6/6 | - |
16-15133889-T-C | NTAN1 | c.576A>G | p.Ala192Ala | Synonymous | 8/10 | - |
16-15133889-T-G | NTAN1 | c.576A>C | p.Ala192Ala | Synonymous | 8/10 | - |
17-42153562-G-C | G6PC3 | c.*151G>C | - | 3-UTRSNV | 6/6 | - |
16-5075633-G-A | NAGPA | c.1394C>T | p.Thr465Ile | Missense | 10/10 | - |
19-40928944-A-G | SERTAD1 | c.510T>C | p.Leu170Leu | Synonymous | 2/2 | - |
9-136901254-G-A | BRD3 | c.1836C>T | p.Asp612Asp | Synonymous | 10/12 | - |
21-45114585-C-T | RRP1B | c.*1321C>T | - | 3-UTRSNV | 16/16 | - |
2-46987341-C-T | SOCS5 | c.*61C>T | - | 3-UTRSNV | 2/2 | - |
13-21732094-C-G | SKA3 | c.1086G>C | p.Pro362Pro | Synonymous | 7/9 | - |
16-70193486-G-A | PDPR | c.*2704G>A | - | 3-UTRSNV | 19/19 | - |
11-27362359-T-G | CCDC34 | c.791A>C | p.Glu264Ala | Missense | 5/6 | - |
9-139369212-G-A | SEC16A | c.2856C>T | p.Pro952Pro | Synonymous | 3/32 | - |
7-93515993-T-A | TFPI2 | c.*139A>T | - | 3-UTRSNV | 5/5 | - |
12-46578010-A-G | SLC38A1 | c.*4743T>C | - | 3-UTRSNV | 17/17 | - |
19-53643497-C-T | ZNF347 | c.*64G>A | - | 3-UTRSNV | 5/5 | - |
1-55548991-C-T | USP24 | c.6929G>A | p.Arg2310Gln | Missense | 58/68 | - |
12-69094607-A-G | NUP107 | c.654A>G | p.Thr218Thr | Synonymous | 7/28 | - |
5-147012291-G-A | JAKMIP2 | c.1728C>T | p.Asp576Asp | Synonymous | 13/21 | - |
12-113737225-G-A | SLC8B1 | c.*357C>T | - | 3-UTRSNV | 16/16 | - |
22-17590744-T-C | IL17RA | c.*34T>C | - | 3-UTRSNV | 13/13 | - |
5-183401-A-G | PLEKHG4B | c.*963A>G | - | 3-UTRSNV | 20/20 | - |
2-45640374-C-A | SRBD1 | c.2392G>T | p.Val798Phe | Missense | 19/21 | - |
1-214787130-G-T | CENPF | c.33G>T | p.Gly11Gly | Synonymous | 2/20 | - |
7-44424211-T-C | NUDCD3 | c.*1399A>G | - | 3-UTRSNV | 6/6 | - |
16-15133889-T-A | NTAN1 | c.576A>T | p.Ala192Ala | Synonymous | 8/10 | - |
22-26937321-G-A | TPST2 | c.276C>T | p.Pro92Pro | Synonymous | 3/7 | - |
12-102517804-G-A | PARPBP | c.138G>A | p.Ala46Ala | Synonymous | 2/11 | - |
10-3208512-G-A | PITRM1 | c.327C>T | p.Thr109Thr | Synonymous | 4/27 | - |
7-112112279-G-T | IFRD1 | c.1047G>T | p.Arg349Arg | Synonymous | 10/12 | - |
11-6477831-C-T | TRIM3 | c.1125G>A | p.Pro375Pro | Synonymous | 7/13 | - |
14-77976468-T-C | SPTLC2 | c.*2159A>G | - | 3-UTRSNV | 12/12 | - |
X-19378784-C-A | PDHA1 | c.*1013C>A | - | 3-UTRSNV | 11/11 | - |
7-29962282-G-C | SCRN1 | c.*1291C>G | - | 3-UTRSNV | 8/8 | - |
13-30779819-C-T | KATNAL1 | c.*2858G>A | - | 3-UTRSNV | 11/11 | - |
13-30778558-A-T | KATNAL1 | c.*4119T>A | - | 3-UTRSNV | 11/11 | - |
5-6633042-C-T | NSUN2 | c.51G>A | p.Glu17Glu | Synonymous | 1/19 | - |
X-19378784-C-T | PDHA1 | c.*1013C>T | - | 3-UTRSNV | 11/11 | - |
9-37780558-C-A | EXOSC3 | c.*118G>T | - | 3-UTRSNV | 4/4 | - |
9-37780558-C-T | EXOSC3 | c.*118G>A | - | 3-UTRSNV | 4/4 | - |
1-20440305-A-G | PLA2G2D | c.*444T>C | - | 3-UTRSNV | 3/3 | - |
1-39329700-G-T | MYCBP | c.*642C>A | - | 3-UTRSNV | 5/5 | - |
2-208440072-C-G | CREB1 | c.624C>G | p.Thr208Thr | Synonymous | 7/9 | - |
1-151108137-T-A | SEMA6C | c.1363A>T | p.Thr455Ser | Missense | 14/19 | - |
3-182638524-G-C | ATP11B | c.*2632G>C | - | 3-UTRSNV | 30/30 | - |
2-11967003-C-G | LPIN1 | c.*2086C>G | - | 3-UTRSNV | 20/20 | - |
2-69049941-T-C | ARHGAP25 | c.1646T>C | p.Met549Thr | Missense | 9/10 | - |
3-63988171-C-T | ATXN7 | c.*3028C>T | - | 3-UTRSNV | 13/13 | - |
7-11414742-C-G | THSD7A | c.*679G>C | - | 3-UTRSNV | 28/28 | - |
5-184336-G-A | PLEKHG4B | c.*1898G>A | - | 3-UTRSNV | 20/20 | - |
1-22150778-G-C | LDLRAD2 | c.*2070G>C | - | 3-UTRSNV | 5/5 | - |
5-174106-G-A | PLEKHG4B | c.4295G>A | - | missense_variant | 18/20 | - |
19-38652993-C-T | SIPA1L3 | c.3762C>T | p.Ser1254Ser | Synonymous | 14/22 | - |
5-174106-G-T | PLEKHG4B | c.4295G>T | - | missense_variant | 18/20 | - |
17-76989062-C-T | CANT1 | c.*570G>A | - | 3-UTRSNV | 4/4 | - |
22-38565347-C-T | PLA2G6 | c.87G>A | p.Val29Val | Synonymous | 2/16 | - |
6-41738247-G-T | FRS3 | c.*110C>A | - | 3-UTRSNV | 7/7 | - |
7-76111835-G-A | DTX2 | c.279G>A | p.Arg93Arg | Synonymous | 4/11 | - |
9-136229950-T-C | SURF4 | c.*419A>G | - | 3-UTRSNV | 6/6 | - |
16-53341803-A-G | CHD9 | c.6991A>G | p.Thr2331Ala | Missense | 33/39 | - |
17-43514411-G-T | PLEKHM1 | c.*813C>A | - | 3-UTRSNV | 12/12 | - |
17-43514411-G-C | PLEKHM1 | c.*813C>G | - | 3-UTRSNV | 12/12 | - |
17-43514411-G-A | PLEKHM1 | c.*813C>T | - | 3-UTRSNV | 12/12 | - |
6-26414179-T-A | BTN3A1 | c.*259T>A | - | 3-UTRSNV | 10/10 | - |
2-73679956-C-G | ALMS1 | c.6305C>G | - | missense_variant | 8/23 | - |
1-157764964-C-T | FCRL1 | c.*925G>A | - | 3-UTRSNV | 11/11 | - |
17-47004723-G-A | UBE2Z | c.*227G>A | - | 3-UTRSNV | 7/7 | - |
12-49331679-T-G | ARF3 | c.*1051A>C | - | 3-UTRSNV | 5/5 | - |
1-15986547-T-C | RSC1A1 | c.184T>C | p.Phe62Leu | Missense | 1/1 | - |
7-93515993-T-G | TFPI2 | c.*139A>C | - | 3-UTRSNV | 5/5 | - |
12-113736121-A-C | TPCN1 | c.*2240A>C | - | 3-UTRSNV | 28/28 | - |
12-76881596-G-A | OSBPL8 | c.1-265C>T | - | IntronicSNV | 1/24 | - |
18-670414-C-T | TYMS | c.557-278C>T | - | IntronicSNV | - | 4/6 |
18-670414-C-A | TYMS | c.557-278C>A | - | IntronicSNV | - | 4/6 |
19-20230264-T-A | ZNF90 | c.*95T>A | - | 3-UTRSNV | 4/4 | - |
9-32541532-A-G | TOPORS | c.2991T>C | p.Asp997Asp | Synonymous | 3/3 | - |
19-10600418-G-A | KEAP1 | c.1437C>T | p.Asp479Asp | Synonymous | 4/6 | - |
8-66514965-T-C | ARMC1 | c.*1664A>G | - | 3-UTRSNV | 7/7 | - |
5-163260-A-C | PLEKHG4B | c.3073A>C | - | missense_variant | 13/20 | - |
14-74203789-G-A | ELMSAN1 | c.1661C>T | p.Pro554Leu | Missense | 3/12 | - |
8-135521970-G-A | ZFAT | c.3348C>T | p.Ala1116Ala | Synonymous | 16/17 | - |
18-74691225-A-G | MBP | c.*1158T>C | - | 3-UTRSNV | 7/7 | - |
17-16326005-A-T | TRPV2 | c.427A>T | p.Arg143Trp | Missense | 4/15 | - |
5-43161351-G-A | ZNF131 | c.372G>A | p.Arg124Arg | Synonymous | 5/8 | - |
13-21732094-C-T | SKA3 | c.1086G>A | p.Pro362Pro | Synonymous | 7/9 | - |
17-16326005-A-C | TRPV2 | c.427A>C | p.Arg143Arg | Synonymous | 4/15 | - |
16-89764549-G-A | SPATA2L | c.468C>T | p.Phe156Phe | Synonymous | 3/3 | - |
9-91993724-C-T | SEMA4D | c.2484G>A | p.Thr828Thr | Synonymous | 18/18 | - |
20-56179411-C-T | ZBP1 | c.*218G>A | - | 3-UTRSNV | 8/8 | - |
6-158928523-A-G | TULP4 | c.*797A>G | - | 3-UTRSNV | 14/14 | - |
20-56179411-C-A | ZBP1 | c.*218G>T | - | 3-UTRSNV | 8/8 | - |
9-96407983-C-G | PHF2 | c.372C>G | p.Thr124Thr | Synonymous | 4/22 | - |
18-57000469-T-C | LMAN1 | c.1228A>G | p.Met410Val | Missense | 11/13 | - |
4-41960341-T-C | TMEM33 | c.*4125T>C | - | 3-UTRSNV | 7/7 | - |
12-8672829-T-C | CLEC4D | c.392T>C | p.Ile131Thr | Missense | 5/6 | - |
2-55776561-T-A | PPP4R3B | c.*486A>T | - | 3-UTRSNV | 15/15 | - |
19-42753649-G-C | ERF | c.615C>G | p.Arg205Arg | Synonymous | 4/4 | - |
19-10334663-T-A | S1PR2 | c.919A>T | p.Arg307Trp | Missense | 2/2 | - |
19-10334663-T-G | S1PR2 | c.919A>C | p.Arg307Arg | Synonymous | 2/2 | - |
12-104742310-C-T | TXNRD1 | c.*111C>T | - | 3-UTRSNV | 15/15 | - |
19-42753649-G-A | ERF | c.615C>T | p.Arg205Arg | Synonymous | 4/4 | - |
12-113534966-T-A | DTX1 | c.*222T>A | - | 3-UTRSNV | 9/9 | - |
X-71788625-C-T | HDAC8 | c.274G>A | p.Asp92Asn | Missense | 3/11 | - |
13-30777301-C-T | KATNAL1 | c.*5376G>A | - | 3-UTRSNV | 11/11 | - |
13-25029295-C-T | PARP4 | c.2618G>A | p.Ser873Asn | Missense | 22/34 | - |
12-92537810-T-C | BTG1 | c.*46A>G | - | 3-UTRSNV | 2/2 | - |
9-93639973-G-C | SYK | c.1233G>C | p.Arg411Arg | Synonymous | 9/13 | - |
7-45140914-C-T | TBRG4 | c.1407G>A | p.Leu469Leu | Synonymous | 8/9 | - |
12-113736121-A-G | TPCN1 | c.*2240A>G | - | 3-UTRSNV | 28/28 | - |
1-77556766-T-A | PIGK | c.*1293A>T | - | 3-UTRSNV | 11/11 | - |
20-4836042-G-A | SLC23A2 | c.*1576C>T | - | 3-UTRSNV | 17/17 | - |
5-111066697-T-C | NREP | c.128A>G | p.Glu43Gly | Missense | 4/4 | - |
17-61772050-C-T | MAP3K3 | c.*913C>T | - | 3-UTRSNV | 16/16 | - |
21-33368188-T-C | HUNK | c.1413T>C | p.Leu471Leu | Synonymous | 10/11 | - |
6-31729925-C-T | MSH5 | c.2356C>T | p.Pro786Ser | Missense | 24/25 | - |
8-110283256-T-A | NUDCD1 | c.1277A>T | p.Asn426Ile | Missense | 8/10 | - |
12-72319283-G-T | TBC1D15 | c.*2299G>T | - | 3-UTRSNV | 18/18 | - |
20-4864419-G-A | SLC23A2 | c.693C>T | p.Leu231Leu | Synonymous | 9/17 | - |
20-5924232-G-A | TRMT6 | c.130C>T | p.Leu44Leu | Synonymous | 5/10 | - |
11-121460846-C-T | SORL1 | c.4176C>T | p.Asn1392Asn | Synonymous | 30/48 | - |
4-38946154-G-A | FAM114A1 | c.*976G>A | - | 3-UTRSNV | 15/15 | - |
16-11772213-A-G | SNN | c.*2031A>G | - | 3-UTRSNV | 2/2 | - |
18-72999404-C-T | TSHZ1 | c.1907C>T | p.Pro636Leu | Missense | 2/2 | - |
11-76836561-T-A | CAPN5 | c.*1645T>A | - | 3-UTRSNV | 13/13 | - |
9-133760592-C-T | ABL1 | c.2972C>T | p.Ser991Leu | Missense | 11/11 | - |
2-10193069-A-T | KLF11 | c.*435A>T | - | 3-UTRSNV | 4/4 | - |
1-205631058-G-A | SLC45A3 | c.1155C>T | p.Thr385Thr | Synonymous | 4/5 | - |
1-157544850-C-T | FCRL4 | c.*464G>A | - | 3-UTRSNV | 12/12 | - |
16-624114-A-G | PIGQ | c.40A>G | p.Thr14Ala | Missense | 2/11 | - |
7-104747899-G-T | KMT2E | c.2995G>T | p.Gly999Cys | Missense | 21/26 | - |
16-633354-G-A | PIGQ | c.*319G>A | - | 3-UTRSNV | 11/11 | - |
16-633354-G-C | PIGQ | c.*319G>C | - | 3-UTRSNV | 11/11 | - |
3-42636141-G-A | SS18L2 | c.*140G>A | - | 3-UTRSNV | 4/4 | - |
2-55775724-A-G | PPP4R3B | c.*1323T>C | - | 3-UTRSNV | 15/15 | - |
6-52367897-G-A | TRAM2 | c.*98C>T | - | 3-UTRSNV | 11/11 | - |
7-92028039-C-A | ANKIB1 | c.3046C>A | p.Leu1016Met | Missense | 20/20 | - |
7-92028039-C-G | ANKIB1 | c.3046C>G | p.Leu1016Val | Missense | 20/20 | - |
3-31703464-T-C | OSBPL10 | c.*100A>G | - | 3-UTRSNV | 11/11 | - |
20-48506001-G-A | SLC9A8 | c.*1528G>A | - | 3-UTRSNV | 16/16 | - |
3-10264480-C-G | IRAK2 | c.1174C>G | p.Leu392Val | Missense | 9/13 | - |
10-46143958-T-G | ZFAND4 | c.353A>C | p.Lys118Thr | Missense | 5/10 | - |
7-29960315-C-T | SCRN1 | c.*3258G>A | - | 3-UTRSNV | 8/8 | - |
X-19379453-T-C | PDHA1 | c.*1682T>C | - | 3-UTRSNV | 11/11 | - |
1-157545231-G-T | FCRL4 | c.*83C>A | - | 3-UTRSNV | 12/12 | - |
6-7609117-T-C | SNRNP48 | c.*11T>C | - | 3-UTRSNV | 9/9 | - |
1-156536221-G-A | IQGAP3 | c.243C>T | p.Pro81Pro | Synonymous | 3/38 | - |
1-204408135-G-A | PIK3C2B | c.3444C>T | p.Thr1148Thr | Synonymous | 24/34 | - |
1-156536221-G-T | IQGAP3 | c.243C>A | p.Pro81Pro | Synonymous | 3/38 | - |
1-204408135-G-C | PIK3C2B | c.3444C>G | p.Thr1148Thr | Synonymous | 24/34 | - |
5-76343999-T-C | AGGF1 | c.1215T>C | p.Ile405Ile | Synonymous | 7/14 | - |
9-123526170-A-G | FBXW2 | c.*667T>C | - | 3-UTRSNV | 8/8 | - |
9-93637015-C-G | SYK | c.996C>G | p.Pro332Pro | Synonymous | 8/13 | - |
4-952409-A-T | TMEM175 | c.*125A>T | - | 3-UTRSNV | 11/11 | - |
7-142565776-G-A | EPHB6 | c.1011G>A | p.Thr337Thr | Synonymous | 12/19 | - |
11-203235-A-G | BET1L | c.*2235T>C | - | 3-UTRSNV | 3/3 | - |
11-60237234-T-C | MS4A1 | c.*1293T>C | - | 3-UTRSNV | 7/7 | - |
17-40142302-T-C | DNAJC7 | c.411A>G | p.Pro137Pro | Synonymous | 6/14 | - |
13-25049676-G-A | PARP4 | c.1848C>T | p.Ala616Ala | Synonymous | 15/34 | - |
2-45640374-C-T | SRBD1 | c.2392G>A | p.Val798Ile | Missense | 19/21 | - |
15-66629403-C-A | TIPIN | c.799G>T | p.Ala267Ser | Missense | 8/8 | - |
17-61772050-C-G | MAP3K3 | c.*913C>G | - | 3-UTRSNV | 16/16 | - |
2-96874307-C-G | STARD7 | c.1-135G>C | - | 5-UTRSNV | 1/8 | - |
5-141019881-G-C | FCHSD1 | c.*1184C>G | - | 3-UTRSNV | 20/20 | - |
1-149871905-G-C | BOLA1 | c.293G>C | p.Gly98Ala | Missense | 2/2 | - |
1-149871905-G-A | BOLA1 | c.293G>A | p.Gly98Glu | Missense | 2/2 | - |
2-231077110-C-T | SP110 | c.619G>A | p.Glu207Lys | Missense | 5/19 | - |
20-51870336-G-C | TSHZ2 | c.339G>C | p.Arg113Ser | Missense | 2/3 | - |
6-33267521-C-T | TAPBP | c.*2016G>A | - | 3-UTRSNV | 8/8 | - |
5-171637810-T-C | UBTD2 | c.*1024A>G | - | 3-UTRSNV | 3/3 | - |
20-48507781-G-A | SLC9A8 | c.*3308G>A | - | 3-UTRSNV | 16/16 | - |
6-144150831-T-C | PHACTR2 | c.*6005T>C | - | 3-UTRSNV | 13/13 | - |
3-47045846-C-T | NBEAL2 | c.6161C>T | p.Ser2054Phe | Missense | 37/54 | - |
17-73205976-T-C | NUP85 | c.186T>C | p.Asp62Asp | Synonymous | 3/19 | - |
17-63525082-A-T | AXIN2 | c.*1012T>A | - | 3-UTRSNV | 11/11 | - |
18-74690979-T-C | MBP | c.*1404A>G | - | 3-UTRSNV | 7/7 | - |
19-17163661-C-T | HAUS8 | c.900G>A | p.Thr300Thr | Synonymous | 10/11 | - |
1-180082269-G-C | CEP350 | c.*1973G>C | - | 3-UTRSNV | 38/38 | - |
2-48713777-C-T | PPP1R21 | c.1326C>T | p.Ser442Ser | Synonymous | 14/21 | - |
1-53516742-G-A | SCP2 | c.*366G>A | - | 3-UTRSNV | 16/16 | - |
14-70171418-T-G | SUSD6 | c.417T>G | p.Phe139Leu | Missense | 4/6 | - |
5-150562408-T-G | CCDC69 | c.*590A>C | - | 3-UTRSNV | 9/9 | - |
10-81072828-C-A | ZMIZ1 | c.*322C>A | - | 3-UTRSNV | 25/25 | - |
12-113537562-C-T | RASAL1 | c.*172G>A | - | 3-UTRSNV | 22/22 | - |
11-3848373-G-C | RHOG | c.*420C>G | - | 3-UTRSNV | 2/2 | - |
9-136198386-C-A | SURF6 | c.*319G>T | - | 3-UTRSNV | 5/5 | - |
20-42091357-T-C | SRSF6 | c.*1654T>C | - | 3-UTRSNV | 6/6 | - |
4-17805379-G-A | DCAF16 | c.386C>T | p.Thr129Ile | Missense | 3/3 | - |
4-17805379-G-T | DCAF16 | c.386C>A | p.Thr129Lys | Missense | 3/3 | - |
18-12308273-G-T | TUBB6 | c.1-19G>T | - | 5-UTRSNV | 1/4 | - |
12-109974191-A-G | UBE3B | c.*1604A>G | - | 3-UTRSNV | 28/28 | - |
X-71710790-C-G | HDAC8 | c.617G>C | p.Gly206Ala | Missense | 6/11 | - |
17-16336992-C-T | TRPV2 | c.2094C>T | p.Pro698Pro | Synonymous | 13/15 | - |
17-16336992-C-A | TRPV2 | c.2094C>A | p.Pro698Pro | Synonymous | 13/15 | - |
17-16336992-C-G | TRPV2 | c.2094C>G | p.Pro698Pro | Synonymous | 13/15 | - |
1-24083494-C-T | ELOA | c.2214C>T | p.Ser738Ser | Synonymous | 10/11 | - |
11-33106616-C-T | CSTF3 | c.*17G>A | - | 3-UTRSNV | 21/21 | - |
5-126112903-G-C | LMNB1 | c.1-298G>C | - | 5-UTRSNV | 1/11 | - |
2-25469502-C-T | DNMT3A | c.1266G>A | p.Leu422Leu | Synonymous | 10/23 | - |
22-24033869-A-G | RGL4 | c.1-349A>G | - | 5-UTRSNV | 1/11 | - |
15-100255104-G-C | MEF2A | c.*2128G>C | - | 3-UTRSNV | 10/10 | - |
6-33282922-T-C | ZBTB22 | c.1772A>G | p.Glu591Gly | Missense | 2/2 | - |
14-23356520-G-A | REM2 | c.*402G>A | - | 3-UTRSNV | 5/5 | - |
6-159187849-A-G | EZR | c.*97T>C | - | 3-UTRSNV | 13/13 | - |
20-43119938-C-T | TTPAL | c.*1756C>T | - | 3-UTRSNV | 6/6 | - |
2-242122130-A-G | PPP1R7 | c.975A>G | p.Thr325Thr | Synonymous | 10/10 | - |
21-45502743-G-T | TRAPPC10 | c.1798G>T | p.Val600Phe | Missense | 14/23 | - |
5-147024509-C-T | JAKMIP2 | c.987G>A | p.Arg329Arg | Synonymous | 6/21 | - |
3-107937408-C-T | IFT57 | c.468G>A | p.Leu156Leu | Synonymous | 3/11 | - |
3-10044457-C-A | EMC3 | c.-242+8250G>T | - | intron_variant | - | 1/8 |
10-14880394-G-T | HSPA14 | c.1-8G>T | - | 5-UTRSNV | 1/14 | - |
8-98041698-C-T | CPQ | c.1029C>T | p.Ala343Ala | Synonymous | 6/8 | - |
8-98041698-C-G | CPQ | c.1029C>G | p.Ala343Ala | Synonymous | 6/8 | - |
5-181730-C-T | PLEKHG4B | c.4504C>T | - | missense_variant | 19/20 | - |
5-181730-C-A | PLEKHG4B | c.4504C>A | - | synonymous_variant | 19/20 | - |
5-181730-C-G | PLEKHG4B | c.4504C>G | - | missense_variant | 19/20 | - |
22-17589209-C-A | IL17RA | c.1100C>A | p.Ala367Glu | Missense | 13/13 | - |
2-46987338-C-T | SOCS5 | c.*58C>T | - | 3-UTRSNV | 2/2 | - |
22-26866723-C-A | HPS4 | c.558G>T | p.Ser186Ser | Synonymous | 7/14 | - |
7-112112279-G-A | IFRD1 | c.1047G>A | p.Arg349Arg | Synonymous | 10/12 | - |
1-203712372-T-C | ATP2B4 | c.*3673T>C | - | 3-UTRSNV | 22/22 | - |
20-62729431-C-T | OPRL1 | c.510C>T | p.Val170Val | Synonymous | 4/5 | - |
3-36898381-G-T | TRANK1 | c.2700C>A | p.Ile900Ile | Synonymous | 12/23 | - |
3-36898381-G-A | TRANK1 | c.2700C>T | p.Ile900Ile | Synonymous | 12/23 | - |
7-30634630-G-C | GARS | c.93G>C | p.Leu31Leu | Synonymous | 1/17 | - |
7-30634630-G-A | GARS | c.93G>A | p.Leu31Leu | Synonymous | 1/17 | - |
12-108962804-C-T | ISCU | c.*112C>T | - | 3-UTRSNV | 6/6 | - |
11-119179679-A-G | MCAM | c.*917T>C | - | 3-UTRSNV | 16/16 | - |
4-38946486-A-G | FAM114A1 | c.*1308A>G | - | 3-UTRSNV | 15/15 | - |
6-75963654-G-A | TMEM30A | c.*2164C>T | - | 3-UTRSNV | 7/7 | - |
12-113736121-A-T | TPCN1 | c.*2240A>T | - | 3-UTRSNV | 28/28 | - |
5-145519821-G-A | LARS | c.2094C>T | p.Asp698Asp | Synonymous | 21/32 | - |
2-173429346-A-C | PDK1 | c.526A>C | p.Asn176His | Missense | 4/11 | - |
5-145519821-G-T | LARS | c.2094C>A | p.Asp698Glu | Missense | 21/32 | - |
20-47351095-G-A | PREX1 | c.507C>T | p.Arg169Arg | Synonymous | 4/40 | - |
5-102490411-T-G | PPIP5K2 | c.1255T>G | p.Ser419Ala | Missense | 12/30 | - |
1-114938289-T-G | TRIM33 | c.*1981A>C | - | 3-UTRSNV | 20/20 | - |
3-48974385-C-T | ARIH2 | c.255+9139C>T | - | IntronicSNV | - | 3/15 |
19-53950475-G-A | ZNF761 | c.1-47G>A | - | 5-UTRSNV | 4/7 | - |
2-112786049-G-A | MERTK | c.2608G>A | p.Val870Ile | Missense | 19/19 | - |
9-131022812-G-A | GOLGA2 | c.1609C>T | p.Arg537Cys | Missense | 17/26 | - |
4-185559734-C-T | CASP3 | c.1-127G>A | - | IntronicSNV | 2/8 | - |
9-131022812-G-C | GOLGA2 | c.1609C>G | p.Arg537Gly | Missense | 17/26 | - |
2-37111123-G-C | STRN | c.1138C>G | p.Pro380Ala | Missense | 9/18 | - |
7-29961939-G-A | SCRN1 | c.*1634C>T | - | 3-UTRSNV | 8/8 | - |
5-65084101-A-G | NLN | c.1115A>G | p.Lys372Arg | Missense | 8/13 | - |
6-31660848-G-A | ABHD16A | c.483C>T | p.Asp161Asp | Synonymous | 5/18 | - |
16-87437787-C-T | MAP1LC3B | c.*1084C>T | - | 3-UTRSNV | 4/4 | - |
4-1718870-G-T | TMEM129 | c.*267C>A | - | 3-UTRSNV | 3/3 | - |
7-128410012-G-A | CALU | c.*791G>A | - | 3-UTRSNV | 7/7 | - |
7-101927099-C-T | CUX1 | c.*717C>T | - | 3-UTRSNV | 23/23 | - |
1-19665497-A-G | CAPZB | c.*625T>C | - | 3_prime_UTR_variant | 10/10 | - |
20-47249116-G-A | PREX1 | c.4329C>T | p.Leu1443Leu | Synonymous | 34/40 | - |
6-30882803-G-A | VARS2 | c.190G>A | p.Gly64Arg | Missense | 2/30 | - |
2-85628983-C-T | CAPG | c.121G>A | p.Val41Ile | Missense | 3/10 | - |
2-197521750-G-A | CCDC150 | c.466G>A | p.Glu156Lys | Missense | 4/28 | - |
12-109888779-G-A | KCTD10 | c.*621C>T | - | 3-UTRSNV | 7/7 | - |
3-9517561-C-A | SETD5 | c.4115C>A | p.Thr1372Asn | Missense | 23/23 | - |
12-76740149-G-A | BBS10 | c.1616C>T | p.Pro539Leu | Missense | 2/2 | - |
22-44582820-T-G | PARVG | c.145-836T>G | - | IntronicSNV | - | 4/13 |
17-62492582-C-T | POLG2 | c.505G>A | p.Ala169Thr | Missense | 1/8 | - |
16-88874778-C-T | CDT1 | c.*92C>T | - | 3-UTRSNV | 10/10 | - |
2-17946243-A-G | GEN1 | c.428A>G | p.Asn143Ser | Missense | 4/14 | - |
8-22547052-G-A | EGR3 | c.*934C>T | - | 3-UTRSNV | 2/2 | - |
4-105393361-A-G | CXXC4 | c.*118T>C | - | 3-UTRSNV | 3/3 | - |
1-9329176-G-A | H6PD | c.*4248G>A | - | 3-UTRSNV | 5/5 | - |
3-9517561-C-T | SETD5 | c.4115C>T | p.Thr1372Ile | Missense | 23/23 | - |
1-197070442-G-A | ASPM | c.7939C>T | p.Leu2647Phe | Missense | 18/28 | - |
2-30863092-C-T | LCLAT1 | c.852C>T | p.His284His | Synonymous | 7/7 | - |
6-29523952-A-C | UBD | c.203T>G | p.Ile68Ser | Missense | 2/2 | - |
16-4519439-G-A | NMRAL1 | c.68C>T | p.Thr23Ile | Missense | 3/6 | - |
7-107399935-A-G | CBLL1 | c.*312A>G | - | 3-UTRSNV | 6/6 | - |
6-29523952-A-G | UBD | c.203T>C | p.Ile68Thr | Missense | 2/2 | - |
2-85625222-T-G | CAPG | c.813A>C | p.Pro271Pro | Synonymous | 8/10 | - |
17-2587326-G-A | PAFAH1B1 | c.*2230G>A | - | 3-UTRSNV | 11/11 | - |
13-77575259-C-T | CLN5 | c.*155C>T | - | 3-UTRSNV | 4/4 | - |
14-33292914-A-C | AKAP6 | c.5895A>C | p.Pro1965Pro | Synonymous | 13/14 | - |
10-133769482-G-C | PPP2R2D | c.*15G>C | - | 3_prime_UTR_variant | 7/7 | - |
19-1086787-C-T | ARHGAP45 | c.*782C>T | - | IntergenicSNV | 23/23 | - |
19-7593571-A-T | MCOLN1 | c.966A>T | p.Arg322Arg | Synonymous | 8/14 | - |
19-7593571-A-C | MCOLN1 | c.966A>C | p.Arg322Arg | Synonymous | 8/14 | - |
6-26414060-G-T | BTN3A1 | c.*140G>T | - | 3-UTRSNV | 10/10 | - |
11-290918-G-C | PGGHG | c.711G>C | p.Gln237His | Missense | 4/14 | - |
13-99101389-C-T | FARP1 | c.*818C>T | - | 3-UTRSNV | 27/27 | - |
9-136271838-G-A | REXO4 | c.*239C>T | - | 3-UTRSNV | 6/6 | - |
1-16042766-T-A | PLEKHM2 | c.95T>A | p.Ile32Asn | Missense | 2/20 | - |
1-16042766-T-C | PLEKHM2 | c.95T>C | p.Ile32Thr | Missense | 2/20 | - |
21-38528987-G-T | TTC3 | c.2771G>T | p.Arg924Leu | Missense | 28/46 | - |
1-101354447-C-T | EXTL2 | c.1-134G>A | - | IntronicSNV | 1/5 | - |
5-145562143-G-A | LARS | c.1-87C>T | - | 5-UTRSNV | 1/32 | - |
1-55207538-G-A | TTC4 | c.*352G>A | - | 3-UTRSNV | 10/10 | - |
6-75965070-C-T | TMEM30A | c.*748G>A | - | 3-UTRSNV | 7/7 | - |
18-60998401-A-G | KDSR | c.*614T>C | - | 3-UTRSNV | 10/10 | - |
6-31379043-A-G | MICA | c.520A>G | p.Met174Val | Missense | 3/6 | - |
13-75859948-C-T | TBC1D4 | c.*980G>A | - | 3-UTRSNV | 21/21 | - |
19-54378242-G-C | MYADM | c.*490G>C | - | 3-UTRSNV | 3/3 | - |
19-54378242-G-A | MYADM | c.*490G>A | - | 3-UTRSNV | 3/3 | - |
2-231037616-A-G | SP110 | c.1650T>C | p.Gly550Gly | Synonymous | 15/19 | - |
7-39747582-C-A | RALA | c.*1738C>A | - | 3-UTRSNV | 5/5 | - |
7-92765524-C-T | SAMD9L | c.1-240G>A | - | IntronicSNV | 3/5 | - |
20-4833623-G-A | SLC23A2 | c.*3995C>T | - | 3-UTRSNV | 17/17 | - |
6-96034560-C-T | MANEA | c.245C>T | p.Thr82Ile | Missense | 2/5 | - |
6-26453179-A-G | BTN3A3 | c.*540A>G | - | 3-UTRSNV | 11/11 | - |
12-8670804-C-T | CLEC4D | c.166C>T | p.His56Tyr | Missense | 3/6 | - |
8-134470533-A-C | ST3GAL1 | c.*1474T>G | - | 3-UTRSNV | 9/9 | - |
19-20003576-C-T | ZNF253 | c.*20C>T | - | 3-UTRSNV | 4/4 | - |
19-20003576-C-A | ZNF253 | c.*20C>A | - | 3-UTRSNV | 4/4 | - |
19-20003576-C-G | ZNF253 | c.*20C>G | - | 3-UTRSNV | 4/4 | - |
5-184760-A-T | PLEKHG4B | c.*2322A>T | - | 3-UTRSNV | 20/20 | - |
1-12569789-A-T | VPS13D | c.*711A>T | - | 3-UTRSNV | 70/70 | - |
11-27517929-G-A | LIN7C | c.*2267C>T | - | 3-UTRSNV | 5/5 | - |
4-105393361-A-T | CXXC4 | c.*118T>A | - | 3-UTRSNV | 3/3 | - |
3-187440223-C-T | BCL6 | c.*23G>A | - | 3-UTRSNV | 10/10 | - |
5-138456815-T-A | SIL1 | c.153A>T | p.Thr51Thr | Synonymous | 3/10 | - |
4-41259633-C-A | UCHL1 | c.53C>A | p.Ser18Tyr | Missense | 3/9 | - |
9-140166645-C-T | NELFB | c.1602C>T | - | synonymous_variant | 11/13 | - |
17-7192091-C-G | YBX2 | c.*16G>C | - | 3-UTRSNV | 8/9 | - |
X-48382174-G-T | EBP | c.15G>T | p.Ala5Ala | Synonymous | 2/5 | - |
17-76170735-C-T | TK1 | c.*105G>A | - | 3-UTRSNV | 7/7 | - |
17-75369578-T-C | SEPT9 | c.23-28563T>C | - | IntronicSNV | - | 1/10 |
20-48507406-T-C | SLC9A8 | c.*2933T>C | - | 3-UTRSNV | 16/16 | - |
X-48382174-G-A | EBP | c.15G>A | p.Ala5Ala | Synonymous | 2/5 | - |
1-151108137-T-G | SEMA6C | c.1363A>C | p.Thr455Pro | Missense | 14/19 | - |
4-80826920-C-T | ANTXR2 | c.*1663G>A | - | 3-UTRSNV | 17/17 | - |
6-31603189-G-A | PRRC2A | c.5320G>A | p.Val1774Met | Missense | 23/31 | - |
5-6599940-C-T | NSUN2 | c.*99G>A | - | 3-UTRSNV | 19/19 | - |
1-180000542-G-A | CEP350 | c.3638G>A | p.Gly1213Glu | Missense | 15/38 | - |
19-54378100-A-T | MYADM | c.*348A>T | - | 3-UTRSNV | 3/3 | - |
19-1852494-C-A | KLF16 | c.*1964G>T | - | 3-UTRSNV | 2/2 | - |
19-1852494-C-G | KLF16 | c.*1964G>C | - | 3-UTRSNV | 2/2 | - |
10-49929331-G-A | WDFY4 | c.375G>A | p.Gln125Gln | Synonymous | 4/62 | - |
2-112751928-G-A | MERTK | c.1397G>A | p.Arg466Lys | Missense | 9/19 | - |
2-112751928-G-C | MERTK | c.1397G>C | p.Arg466Thr | Missense | 9/19 | - |
1-15905501-G-C | AGMAT | c.573C>G | p.Thr191Thr | Synonymous | 4/7 | - |
19-52825032-C-T | ZNF480 | c.529C>T | p.Pro177Ser | Missense | 5/5 | - |
19-5212380-C-T | PTPRS | c.4737G>A | p.Pro1579Pro | Synonymous | 31/38 | - |
19-5212380-C-A | PTPRS | c.4737G>T | p.Pro1579Pro | Synonymous | 31/38 | - |
9-140084485-G-A | SSNA1 | c.*119G>A | - | 3-UTRSNV | 3/3 | - |
7-29960211-C-A | SCRN1 | c.*3362G>T | - | 3-UTRSNV | 8/8 | - |
6-30882689-C-T | VARS2 | c.76C>T | p.His26Tyr | Missense | 2/30 | - |
X-71788724-G-A | HDAC8 | c.175C>T | p.Pro59Ser | Missense | 3/11 | - |
7-127221414-T-C | GCC1 | c.*654A>G | - | 3-UTRSNV | 2/2 | - |
1-22150778-G-T | LDLRAD2 | c.*2070G>T | - | 3-UTRSNV | 5/5 | - |
15-52446200-G-A | GNB5 | c.186C>T | p.His62His | Synonymous | 2/11 | - |
9-140084485-G-T | SSNA1 | c.*119G>T | - | 3-UTRSNV | 3/3 | - |
9-95768448-G-A | FGD3 | c.823G>A | p.Val275Ile | Missense | 6/18 | - |
11-65632507-G-A | MUS81 | c.1292G>A | p.Arg431His | Missense | 13/16 | - |
3-197400292-A-G | RUBCN | c.*1597T>C | - | 3-UTRSNV | 21/21 | - |
7-43665500-T-C | STK17A | c.*1059T>C | - | 3-UTRSNV | 7/7 | - |
13-30778204-C-T | KATNAL1 | c.*4473G>A | - | 3-UTRSNV | 11/11 | - |
2-65311438-G-A | CEP68 | c.*670G>A | - | 3_prime_UTR_variant | 7/7 | - |
8-120744399-C-T | TAF2 | c.3365G>A | p.Ser1122Asn | Missense | 26/26 | - |
1-29508327-C-G | SRSF4 | c.1-63G>C | - | 5-UTRSNV | 1/6 | - |
7-38764732-A-G | VPS41 | c.*1114T>C | - | 3-UTRSNV | 29/29 | - |
2-1637201-C-A | PXDN | c.*775G>T | - | 3-UTRSNV | 23/23 | - |
8-103217686-T-G | RRM2B | c.*2675A>C | - | 3-UTRSNV | 9/9 | - |
20-61588865-C-T | SLC17A9 | c.330C>T | p.Leu110Leu | Synonymous | 3/13 | - |
3-194309210-G-C | TMEM44 | c.*48C>G | - | 3-UTRSNV | 11/11 | - |
19-18288898-T-C | IFI30 | c.*177T>C | - | 3-UTRSNV | 7/7 | - |
17-40462994-G-T | STAT5A | c.*307G>T | - | 3-UTRSNV | 20/20 | - |
1-171673054-T-C | VAMP4 | c.*592A>G | - | 3-UTRSNV | 8/8 | - |
15-49048705-G-C | CEP152 | c.2740C>G | p.Leu914Val | Missense | 20/26 | - |
18-14105016-C-T | ZNF519 | c.1523G>A | p.Arg508Lys | Missense | 3/3 | - |
11-123596055-C-A | ZNF202 | c.*650G>T | - | 3-UTRSNV | 9/9 | - |
10-3208512-G-C | PITRM1 | c.327C>G | p.Thr109Thr | Synonymous | 4/27 | - |
4-78873823-A-T | MRPL1 | c.*62A>T | - | 3-UTRSNV | 9/9 | - |
19-41173372-G-A | NUMBL | c.*1C>T | - | 3-UTRSNV | 10/10 | - |
4-178274835-A-C | NEIL3 | c.1413A>C | p.Gln471His | Missense | 8/10 | - |
9-132897501-A-T | GPR107 | c.*101A>T | - | 3-UTRSNV | 20/20 | - |