Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
11-18600283-T-C | UEVLD | c.115A>G | p.Met39Val | Missense | 2/11 | - |
2-43927538-C-A | PLEKHH2 | c.1441C>A | p.Pro481Thr | Missense | 8/30 | - |
7-56087399-G-A | PSPH | c.169C>T | p.Pro57Ser | Missense | 5/8 | - |
5-170336704-G-A | RANBP17 | c.529G>A | p.Ala177Thr | Missense | 6/28 | - |
4-107151587-A-G | TBCK | c.1518T>C | p.Cys506Cys | Synonymous | 17/24 | - |
1-53544249-A-G | PODN | c.1211A>G | p.Gln404Arg | Missense | 8/11 | - |
9-100420976-G-A | NCBP1 | c.1428G>A | p.Leu476Leu | Synonymous | 15/23 | - |
9-35101522-G-A | STOML2 | c.480C>T | p.Ala160Ala | Synonymous | 6/10 | - |
2-88876094-C-T | EIF2AK3 | c.2014G>A | p.Glu672Lys | Missense | 12/17 | - |
1-217955575-G-A | SPATA17 | c.783G>A | p.Thr261Thr | Synonymous | 8/11 | - |
22-50696678-G-T | MAPK12 | c.308C>A | p.Thr103Lys | Missense | 3/12 | - |
1-43166630-G-A | YBX1 | c.919G>A | p.Asp307Asn | Missense | 7/8 | - |
11-63175630-G-A | SLC22A9 | c.1335G>A | p.Ala445Ala | Synonymous | 8/10 | - |
2-27262667-G-C | TMEM214 | c.1584G>C | p.Ala528Ala | Synonymous | 14/17 | - |
8-103293699-T-A | UBR5 | c.5745A>T | p.Gly1915Gly | Synonymous | 41/59 | - |
11-66249852-G-T | DPP3 | c.181G>T | p.Ala61Ser | Missense | 2/17 | - |
1-229594003-C-T | NUP133 | c.2885G>A | p.Arg962His | Missense | 21/26 | - |
17-41267740-T-G | BRCA1 | c.134+3A>C | - | IntronicSNV | - | 3/22 |
1-229594003-C-G | NUP133 | c.2885G>C | p.Arg962Pro | Missense | 21/26 | - |
3-151598469-C-T | SUCNR1 | c.138C>T | p.Tyr46Tyr | Synonymous | 3/3 | - |
15-58833993-G-T | LIPC | c.283G>T | p.Val95Leu | Missense | 3/9 | - |
2-3428364-A-G | TRAPPC12 | c.1347A>G | p.Glu449Glu | Synonymous | 5/12 | - |
8-110456989-G-A | PKHD1L1 | c.4891G>A | p.Glu1631Lys | Missense | 38/78 | - |
16-52107811-T-A | C16orf97 | c.1-15A>T | - | 5-UTRSNV | 1/6 | - |
16-53682940-C-T | RPGRIP1L | c.2240G>A | p.Arg747Gln | Missense | 16/27 | - |
3-128200072-C-T | GATA2 | c.1233G>A | p.Ala411Ala | Synonymous | 6/6 | - |
8-21833926-G-C | XPO7 | c.657G>C | p.Leu219Leu | Synonymous | 7/28 | - |
1-154247435-G-A | HAX1 | c.514G>A | p.Val172Ile | Missense | 4/7 | - |
17-61864403-T-A | DDX42 | c.1-7T>A | - | 5-UTRSNV | 3/19 | - |
20-54958082-C-T | AURKA | c.525G>A | p.Glu175Glu | Synonymous | 5/9 | - |
17-42333071-C-T | SLC4A1 | c.1770G>A | p.Lys590Lys | Synonymous | 14/20 | - |
X-140994031-G-C | MAGEC1 | c.841G>C | p.Val281Leu | Missense | 4/4 | - |
X-140994031-G-T | MAGEC1 | c.841G>T | p.Val281Leu | Missense | 4/4 | - |
11-93431931-C-A | CEP295 | c.3853C>A | p.Gln1285Lys | Missense | 15/30 | - |
1-234367264-C-T | SLC35F3 | c.385C>T | p.Arg129Trp | Missense | 3/8 | - |
19-9065763-G-A | MUC16 | c.21683C>T | p.Pro7228Leu | Missense | 3/84 | - |
1-159410217-G-A | OR10J1 | c.636G>A | - | synonymous_variant | 1/1 | - |
16-15814717-C-T | MYH11 | c.4791G>A | p.Lys1597Lys | Synonymous | 34/43 | - |
1-234367264-C-G | SLC35F3 | c.385C>G | p.Arg129Gly | Missense | 3/8 | - |
1-234367264-C-A | SLC35F3 | c.385C>A | p.Arg129Arg | Synonymous | 3/8 | - |
2-99651798-G-A | TSGA10 | c.1509C>T | p.Ser503Ser | Synonymous | 16/20 | - |
12-53091556-C-A | KRT77 | c.668G>T | p.Arg223Leu | Missense | 2/9 | - |
9-88897432-C-T | ISCA1 | c.1-59G>A | - | 5-UTRSNV | 1/4 | - |
3-4714920-A-G | ITPR1 | c.2260A>G | p.Met754Val | Missense | 20/58 | - |
9-88897432-C-G | ISCA1 | c.1-59G>C | - | 5-UTRSNV | 1/4 | - |
8-101727801-C-T | PABPC1 | c.532G>A | p.Glu178Lys | Missense | 4/15 | - |
3-111710446-A-C | ABHD10 | c.799A>C | p.Thr267Pro | Missense | 5/5 | - |
3-170946002-A-G | TNIK | c.132T>C | p.His44His | Synonymous | 3/33 | - |
3-128627862-C-T | ACAD9 | c.1405C>T | p.Arg469Trp | Missense | 14/18 | - |
1-160252819-G-A | PEX19 | c.261C>T | p.Phe87Phe | Synonymous | 3/8 | - |
12-4461695-A-G | TIGAR | c.651A>G | p.Leu217Leu | Synonymous | 6/6 | - |
1-45479709-A-G | UROD | c.603A>G | p.Pro201Pro | Synonymous | 6/10 | - |
19-36018648-C-G | SBSN | c.375+161G>C | - | IntronicSNV | - | 1/4 |
1-223284915-G-T | TLR5 | c.1459C>A | p.Leu487Ile | Missense | 6/6 | - |
16-89221287-G-A | ACSF3 | c.*672G>A | - | 3-UTRSNV | 11/11 | - |
16-89221287-G-C | ACSF3 | c.*672G>C | - | 3-UTRSNV | 11/11 | - |
16-9892213-G-C | GRIN2A | c.2277C>G | p.Thr759Thr | Synonymous | 12/14 | - |
16-9892213-G-A | GRIN2A | c.2277C>T | p.Thr759Thr | Synonymous | 12/14 | - |
3-193385047-C-A | OPA1 | c.2961C>A | p.Arg987Arg | Synonymous | 29/31 | - |
11-123894246-A-G | OR10G9 | c.527A>G | p.Tyr176Cys | Missense | 1/1 | - |
3-193385047-C-T | OPA1 | c.2961C>T | p.Arg987Arg | Synonymous | 29/31 | - |
4-7985004-C-T | ABLIM2 | c.1811G>A | p.Arg604Gln | Missense | 20/21 | - |
3-142188337-A-C | ATR | c.6394T>G | p.Tyr2132Asp | Missense | 38/47 | - |
8-27925796-A-T | NUGGC | c.417T>A | p.Ile139Ile | Synonymous | 5/19 | - |
3-69246065-G-A | FRMD4B | c.1078C>T | p.Arg360Trp | Missense | 13/23 | - |
3-69246065-G-C | FRMD4B | c.1078C>G | p.Arg360Gly | Missense | 13/23 | - |
11-111365984-T-G | BTG4 | c.566A>C | p.Asn189Thr | Missense | 5/6 | - |
5-162887648-C-T | HMMR | c.1-51C>T | - | 5-UTRSNV | 1/18 | - |
5-162887648-C-A | HMMR | c.1-51C>A | - | 5-UTRSNV | 1/18 | - |
9-35044398-T-C | C9orf131 | c.1772T>C | p.Ile591Thr | Missense | 2/2 | - |
14-65241906-T-C | SPTB | c.4779A>G | p.Ala1593Ala | Synonymous | 22/35 | - |
8-124664368-C-A | KLHL38 | c.799G>T | p.Val267Phe | Missense | 2/4 | - |
4-103537662-G-A | NFKB1 | c.2821G>A | p.Glu941Lys | Missense | 24/24 | - |
12-9085218-C-T | PHC1 | c.1165C>T | p.Gln389* | Nonsense | 8/15 | - |
11-64359274-C-T | SLC22A12 | c.246C>T | p.Asn82Asn | Synonymous | 1/10 | - |
11-128680466-C-G | FLI1 | c.942C>G | p.Pro314Pro | Synonymous | 9/9 | - |
11-20676319-G-A | SLC6A5 | c.2299G>A | p.Gly767Arg | Missense | 16/16 | - |
7-1132691-C-T | GPER1 | c.*199C>T | - | 3-UTRSNV | 3/3 | - |
20-62641575-G-A | PRPF6 | c.1209G>A | p.Ser403Ser | Synonymous | 10/21 | - |
15-89008917-G-A | MRPL46 | c.316C>T | p.His106Tyr | Missense | 2/4 | - |
8-145086736-T-G | SPATC1 | c.53T>G | p.Val18Gly | Missense | 1/5 | - |
6-139609878-G-A | TXLNB | c.159C>T | p.Pro53Pro | Synonymous | 2/10 | - |
1-92146279-A-G | TGFBR3 | c.*3017T>C | - | 3-UTRSNV | 17/17 | - |
3-189584563-C-T | TP63 | c.859C>T | p.Leu287Leu | Synonymous | 6/14 | - |
12-4662210-T-C | RAD51AP1 | c.618T>C | p.Ser206Ser | Synonymous | 7/9 | - |
19-19339337-G-A | NCAN | c.2908G>A | p.Glu970Lys | Missense | 8/15 | - |
7-138440495-G-C | ATP6V0A4 | c.755C>G | p.Pro252Arg | Missense | 10/22 | - |
5-121356350-A-C | SRFBP1 | c.920A>C | p.Gln307Pro | Missense | 6/8 | - |
1-151735545-A-G | MRPL9 | c.231T>C | p.His77His | Synonymous | 2/7 | - |
3-132400851-C-T | NPHP3 | c.3896G>A | p.Gly1299Asp | Missense | 27/27 | - |
3-98518377-C-T | DCBLD2 | c.2167G>A | p.Asp723Asn | Missense | 16/16 | - |
7-98495408-G-C | TRRAP | c.552G>C | p.Val184Val | Synonymous | 8/71 | - |
12-66308896-A-G | HMGA2 | c.250-36267A>G | - | IntronicSNV | - | 3/4 |
17-17919414-G-A | DRC3 | c.1363G>A | p.Gly455Arg | Missense | 13/14 | - |
11-59863104-A-G | MS4A2 | c.710A>G | p.Glu237Gly | Missense | 7/7 | - |
12-998338-A-G | WNK1 | c.5397A>G | p.Gln1799Gln | Synonymous | 21/28 | - |
6-7884652-C-T | TXNDC5 | c.1116G>A | p.Ala372Ala | Synonymous | 9/10 | - |
12-19506870-C-T | PLEKHA5 | c.2574C>T | p.Pro858Pro | Synonymous | 20/26 | - |
12-66597527-A-T | IRAK3 | c.134-5709A>T | - | IntronicSNV | - | 1/10 |
12-66597527-A-G | IRAK3 | c.134-5709A>G | - | IntronicSNV | - | 1/10 |
4-115997346-T-C | NDST4 | c.847A>G | p.Ile283Val | Missense | 2/14 | - |
7-105615357-G-A | CDHR3 | c.114G>A | p.Gly38Gly | Synonymous | 2/19 | - |
6-16306977-T-A | ATXN1 | c.2031A>T | p.Ser677Ser | Synonymous | 9/9 | - |
6-16306977-T-C | ATXN1 | c.2031A>G | p.Ser677Ser | Synonymous | 9/9 | - |
16-74709610-G-T | MLKL | c.1091C>A | p.Thr364Lys | Missense | 8/11 | - |
16-74709610-G-A | MLKL | c.1091C>T | p.Thr364Met | Missense | 8/11 | - |
7-38807169-C-G | VPS41 | c.1215G>C | p.Leu405Leu | Synonymous | 15/29 | - |
6-165808716-G-C | PDE10A | c.1459C>G | p.Pro487Ala | Missense | 15/22 | - |
11-1271847-C-G | MUC5B | c.13737C>G | p.Ala4579Ala | Synonymous | 31/49 | - |
15-42676689-C-T | CAPN3 | c.318C>T | p.Cys106Cys | Synonymous | 2/24 | - |
X-122338337-A-G | GRIA3 | c.267+18495A>G | - | intron_variant | - | 2/15 |
19-9025654-T-C | MUC16 | c.36800A>G | p.Lys12267Arg | Missense | 15/84 | - |
3-121345694-G-A | FBXO40 | c.2067G>A | p.Glu689Glu | Synonymous | 4/4 | - |
10-27353007-T-C | ANKRD26 | c.1273A>G | p.Ile425Val | Missense | 12/34 | - |
1-245851289-G-A | KIF26B | c.5004G>A | p.Ser1668Ser | Synonymous | 12/15 | - |
2-238287357-C-T | COL6A3 | c.2419G>A | p.Ala807Thr | Missense | 6/44 | - |
7-105671267-T-C | CDHR3 | c.2334T>C | p.Asp778Asp | Synonymous | 18/19 | - |
2-168106085-G-A | XIRP2 | c.8183G>A | p.Ser2728Asn | Missense | 9/11 | - |
2-238462325-T-C | MLPH | c.*90T>C | - | 3-UTRSNV | 16/16 | - |
1-79093910-G-A | IFI44L | c.310G>A | p.Ala104Thr | Missense | 2/9 | - |
1-79093910-G-T | IFI44L | c.310G>T | p.Ala104Ser | Missense | 2/9 | - |
7-1192725-G-A | ZFAND2A | c.418C>T | p.Pro140Ser | Missense | 5/5 | - |
7-23239133-C-T | NUPL2 | c.666C>T | p.Ser222Ser | Synonymous | 6/7 | - |
17-65120111-G-A | HELZ | c.3407C>T | p.Thr1136Ile | Missense | 25/33 | - |
17-65120111-G-C | HELZ | c.3407C>G | p.Thr1136Ser | Missense | 25/33 | - |
5-151170527-G-A | G3BP1 | c.255G>A | p.Thr85Thr | Synonymous | 4/12 | - |
9-15214237-T-C | TTC39B | c.382A>G | p.Thr128Ala | Missense | 4/20 | - |
9-15214237-T-G | TTC39B | c.382A>C | p.Thr128Pro | Missense | 4/20 | - |
9-139915940-A-C | ABCA2 | c.801T>G | p.Ala267Ala | Synonymous | 8/49 | - |
9-139915940-A-G | ABCA2 | c.801T>C | p.Ala267Ala | Synonymous | 8/49 | - |
10-134147172-G-A | LRRC27 | c.144G>A | p.Pro48Pro | Synonymous | 2/11 | - |
8-41583441-T-C | ANK1 | c.450A>G | p.Val150Val | Synonymous | 6/42 | - |
1-247007178-A-T | AHCTF1 | c.6471T>A | p.Ser2157Ser | Synonymous | 34/36 | - |
8-104384780-A-G | CTHRC1 | c.150+746A>G | - | IntronicSNV | - | 1/3 |
19-13015347-G-A | SYCE2 | c.265C>T | p.His89Tyr | Missense | 3/6 | - |
1-109792973-G-A | CELSR2 | c.272G>A | p.Arg91Lys | Missense | 1/34 | - |
16-8829626-G-A | ABAT | c.30G>A | p.Leu10Leu | Synonymous | 2/16 | - |
5-109864483-T-C | TMEM232 | c.1509A>G | p.Ser503Ser | Synonymous | 12/14 | - |
1-178489903-C-G | TEX35 | c.437C>G | p.Ala146Gly | Missense | 7/9 | - |
6-123102279-G-A | FABP7 | c.288G>A | p.Gln96Gln | Synonymous | 3/4 | - |
21-47575470-G-C | FTCD | c.1-33C>G | - | 5-UTRSNV | 1/15 | - |
16-53682949-C-A | RPGRIP1L | c.2231G>T | p.Arg744Leu | Missense | 16/27 | - |
16-53682949-C-T | RPGRIP1L | c.2231G>A | p.Arg744Gln | Missense | 16/27 | - |
4-186598546-C-T | SORBS2 | c.93+1031G>A | - | IntronicSNV | - | 5/22 |
19-44981862-A-G | ZNF180 | c.836T>C | p.Ile279Thr | Missense | 5/5 | - |
21-38309459-C-T | HLCS | c.286G>A | p.Val96Ile | Missense | 5/12 | - |
9-37429747-G-A | GRHPR | c.512G>A | p.Arg171His | Missense | 6/9 | - |
X-15582209-C-T | ACE2 | c.2247G>A | p.Val749Val | Synonymous | 18/19 | - |
11-64525266-C-T | PYGM | c.645G>A | p.Lys215Lys | Synonymous | 5/20 | - |
12-124175086-C-T | TCTN2 | c.898C>T | p.Leu300Leu | Synonymous | 8/18 | - |
11-1093346-C-T | MUC2 | c.12581C>T | - | missense_variant | 32/51 | - |
22-21235389-A-C | SNAP29 | c.487A>C | p.Ser163Arg | Missense | 3/5 | - |
22-21235389-A-G | SNAP29 | c.487A>G | p.Ser163Gly | Missense | 3/5 | - |
2-220099713-C-T | ANKZF1 | c.1370C>T | p.Thr457Ile | Missense | 10/14 | - |
20-4202315-C-T | ADRA1D | c.1574G>A | p.Gly525Asp | Missense | 2/2 | - |
20-4202315-C-G | ADRA1D | c.1574G>C | p.Gly525Ala | Missense | 2/2 | - |
1-92789824-C-T | RPAP2 | c.1347C>T | p.Tyr449Tyr | Synonymous | 8/13 | - |
20-3577062-G-A | ATRN | c.3455G>A | p.Arg1152Lys | Missense | 21/29 | - |
11-12241818-G-A | MICAL2 | c.1019G>A | p.Arg340Gln | Missense | 9/28 | - |
1-228873441-G-A | RHOU | c.284G>A | p.Arg95Gln | Missense | 2/3 | - |
6-7248990-G-A | RREB1 | c.4853G>A | p.Arg1618Gln | Missense | 12/12 | - |
6-7248990-G-C | RREB1 | c.4853G>C | p.Arg1618Pro | Missense | 12/12 | - |
3-172766777-C-T | SPATA16 | c.720G>A | p.Arg240Arg | Synonymous | 3/11 | - |
16-83940604-G-A | MLYCD | c.541G>A | p.Val181Met | Missense | 2/5 | - |
3-41278119-C-T | CTNNB1 | c.1995C>T | p.Asp665Asp | Synonymous | 13/16 | - |
16-49672109-G-A | ZNF423 | c.954C>T | p.His318His | Synonymous | 4/8 | - |
11-33565518-C-G | KIAA1549L | c.2409C>G | - | synonymous_variant | 2/21 | - |
1-86920913-G-C | CLCA2 | c.2535G>C | p.Thr845Thr | Synonymous | 14/14 | - |
1-236702374-G-C | LGALS8 | c.330G>C | p.Leu110Leu | Synonymous | 5/12 | - |
1-236702374-G-A | LGALS8 | c.330G>A | p.Leu110Leu | Synonymous | 5/12 | - |
22-36691691-T-C | MYH9 | c.3345A>G | p.Glu1115Glu | Synonymous | 26/41 | - |
3-145924454-C-T | PLSCR4 | c.213G>A | p.Leu71Leu | Synonymous | 4/9 | - |
10-24922388-T-C | ARHGAP21 | c.383A>G | p.Asn128Ser | Missense | 6/26 | - |
5-34998894-G-C | AGXT2 | c.1475C>G | p.Pro492Arg | Missense | 14/14 | - |
8-33356827-T-A | TTI2 | c.1423-32A>T | - | IntronicSNV | - | 6/6 |
19-15852841-G-A | OR10H3 | c.639G>A | p.Leu213Leu | Synonymous | 1/1 | - |
18-22804911-G-A | ZNF521 | c.2971C>T | p.Arg991Trp | Missense | 4/8 | - |
2-135744416-C-G | MAP3K19 | c.2026G>C | p.Glu676Gln | Missense | 7/10 | - |
5-176863227-T-G | GRK6 | c.1211T>G | p.Val404Gly | Missense | 12/16 | - |
2-210559417-G-A | MAP2 | c.455-5584G>A | - | IntronicSNV | - | 7/14 |
16-30762886-C-T | PHKG2 | c.288C>T | p.Ser96Ser | Synonymous | 4/10 | - |
X-90691185-T-C | PABPC5 | c.609T>C | p.Val203Val | Synonymous | 2/2 | - |
11-18357419-A-C | GTF2H1 | c.273A>C | p.Ala91Ala | Synonymous | 3/15 | - |
11-18357419-A-G | GTF2H1 | c.273A>G | p.Ala91Ala | Synonymous | 3/15 | - |
5-54585213-C-T | DHX29 | c.951G>A | p.Met317Ile | Missense | 8/27 | - |
17-48628123-C-T | SPATA20 | c.1228C>T | p.Arg410Trp | Missense | 11/17 | - |
17-48628123-C-A | SPATA20 | c.1228C>A | p.Arg410Arg | Synonymous | 11/17 | - |
20-20475809-G-A | RALGAPA2 | c.5319C>T | p.Tyr1773Tyr | Synonymous | 36/40 | - |
1-202933779-G-A | CYB5R1 | c.520C>T | p.Arg174* | Nonsense | 6/9 | - |
1-224544642-T-G | CNIH4 | c.16T>G | p.Phe6Val | Missense | 1/5 | - |
20-4680217-A-G | PRNP | c.351A>G | p.Ala117Ala | Synonymous | 2/2 | - |
11-75852279-C-T | UVRAG | c.1922C>T | p.Thr641Ile | Missense | 15/15 | - |
12-71526593-G-A | TSPAN8 | c.456C>T | p.Cys152Cys | Synonymous | 7/9 | - |
X-138869368-T-C | ATP11C | c.1565A>G | p.Tyr522Cys | Missense | 15/30 | - |
6-135539103-G-A | MYB | c.1899G>A | p.Arg633Arg | Synonymous | 15/15 | - |
2-241389259-G-A | GPC1 | c.167-9188G>A | - | IntronicSNV | - | 1/8 |
8-121239515-G-A | COL14A1 | c.2061G>A | p.Thr687Thr | Synonymous | 17/48 | - |
2-136872715-G-A | CXCR4 | c.795C>T | p.Ile265Ile | Synonymous | 1/1 | - |
12-6883915-G-A | LAG3 | c.666G>A | p.Ala222Ala | Synonymous | 4/8 | - |
9-21141135-C-T | IFNW1 | c.435G>A | p.Arg145Arg | Synonymous | 1/1 | - |
6-70639473-A-G | COL19A1 | c.547A>G | p.Ile183Val | Missense | 6/51 | - |
22-20784050-T-A | SCARF2 | c.1273A>T | p.Thr425Ser | Missense | 7/14 | - |
4-41672759-C-T | LIMCH1 | c.2243-812C>T | - | IntronicSNV | - | 16/26 |
4-41672759-C-G | LIMCH1 | c.2243-812C>G | - | IntronicSNV | - | 16/26 |
11-33308836-T-C | HIPK3 | c.876T>C | p.Ser292Ser | Synonymous | 2/17 | - |
2-207625662-C-T | MDH1B | c.98G>A | p.Arg33Gln | Missense | 2/12 | - |
22-38120282-C-G | TRIOBP | c.1719C>G | p.Asp573Glu | Missense | 7/24 | - |
3-112188609-T-G | BTLA | c.590A>C | p.Asn197Thr | Missense | 4/5 | - |
3-157154839-T-G | PTX3 | c.117T>G | p.His39Gln | Missense | 1/3 | - |
10-50872912-C-T | CHAT | c.2067C>T | p.Ile689Ile | Synonymous | 15/15 | - |
8-133880436-C-T | TG | c.144C>T | p.Tyr48Tyr | Synonymous | 2/48 | - |
5-89979630-T-G | ADGRV1 | c.5892T>G | p.Asn1964Lys | Missense | 28/90 | - |
5-89979630-T-C | ADGRV1 | c.5892T>C | p.Asn1964Asn | Synonymous | 28/90 | - |
10-14987138-G-A | DCLRE1C | c.-78C>T | - | 5_prime_UTR_variant | 3/13 | - |
10-14987138-G-C | DCLRE1C | c.-78C>G | - | 5_prime_UTR_variant | 3/13 | - |
3-124462959-A-G | UMPS | c.*28A>G | - | 3-UTRSNV | 6/6 | - |
17-18259294-A-G | SHMT1 | c.2T>C | p.Met1Thr | Missense | 2/12 | - |
17-18259294-A-C | SHMT1 | c.2T>G | p.Met1Arg | Missense | 2/12 | - |
17-18259294-A-T | SHMT1 | c.2T>A | p.Met1Lys | Missense | 2/12 | - |
2-135884166-A-G | RAB3GAP1 | c.913A>G | p.Ile305Val | Missense | 11/24 | - |
1-214510115-T-G | SMYD2 | c.1290T>G | p.Ile430Met | Missense | 12/12 | - |
12-27849666-G-C | REP15 | c.171G>C | p.Glu57Asp | Missense | 1/1 | - |
5-52351838-G-A | ITGA2 | c.955G>A | p.Ala319Thr | Missense | 9/30 | - |
16-816977-G-T | MSLN | c.1466G>T | p.Gly489Val | Missense | 15/18 | - |
9-105767536-G-A | CYLC2 | c.623G>A | p.Gly208Asp | Missense | 5/8 | - |
9-34512393-T-G | DNAI1 | c.1460T>G | p.Val487Gly | Missense | 15/20 | - |
1-93720153-G-A | CCDC18 | c.3324G>A | p.Arg1108Arg | Synonymous | 24/28 | - |
12-54403384-G-T | HOXC8 | c.316G>T | p.Ala106Ser | Missense | 1/2 | - |
18-6964785-C-A | LAMA1 | c.7213G>T | p.Asp2405Tyr | Missense | 51/63 | - |
18-6964785-C-T | LAMA1 | c.7213G>A | p.Asp2405Asn | Missense | 51/63 | - |
2-71351612-G-A | MCEE | c.102C>T | p.Pro34Pro | Synonymous | 2/3 | - |
3-151150568-G-T | MED12L | c.6414G>T | p.Pro2138Pro | Synonymous | 43/43 | - |
1-184775133-C-T | FAM129A | c.1393G>A | p.Glu465Lys | Missense | 11/14 | - |
10-132891465-C-T | TCERG1L | c.1721G>A | p.Arg574Gln | Missense | 12/12 | - |
5-94878912-C-G | TTC37 | c.210G>C | p.Glu70Asp | Missense | 5/43 | - |
5-94878912-C-T | TTC37 | c.210G>A | p.Glu70Glu | Synonymous | 5/43 | - |
5-145718765-C-T | POU4F3 | c.90C>T | p.Ala30Ala | Synonymous | 1/2 | - |
X-153132516-G-A | L1CAM | c.2201C>T | p.Thr734Met | Missense | 17/27 | - |
14-94044265-G-A | UNC79 | c.1758G>A | p.Pro586Pro | Synonymous | 18/50 | - |
8-90802491-A-G | RIPK2 | c.1470A>G | p.Leu490Leu | Synonymous | 11/11 | - |
11-108277861-C-G | C11orf65 | c.190G>C | p.Ala64Pro | Missense | 4/9 | - |
7-20201444-A-C | MACC1 | c.42T>G | p.Ile14Met | Missense | 4/7 | - |
11-129784764-C-T | PRDM10 | c.2676G>A | p.Thr892Thr | Synonymous | 17/21 | - |
20-52790005-C-T | CYP24A1 | c.114G>A | p.Pro38Pro | Synonymous | 1/12 | - |
7-77807352-G-A | MAGI2 | c.2379C>T | p.Leu793Leu | Synonymous | 14/22 | - |
1-202700960-G-A | KDM5B | c.4017C>T | p.Leu1339Leu | Synonymous | 24/27 | - |
14-94526812-C-T | DDX24 | c.1545G>A | p.Gln515Gln | Synonymous | 5/9 | - |
3-170732471-C-T | SLC2A2 | c.158G>A | p.Arg53Gln | Missense | 3/11 | - |
16-89833576-G-C | FANCA | c.2574C>G | p.Ser858Arg | Missense | 27/43 | - |
4-110757224-G-A | RRH | c.459G>A | p.Leu153Leu | Synonymous | 4/7 | - |
1-93299193-G-A | RPL5 | c.165G>A | p.Val55Val | Synonymous | 3/8 | - |
2-97507843-C-T | ANKRD23 | c.254G>A | p.Arg85Gln | Missense | 3/9 | - |
4-154644542-G-A | RNF175 | c.470C>T | p.Ala157Val | Missense | 5/9 | - |
14-75515693-C-G | MLH3 | c.666G>C | p.Lys222Asn | Missense | 2/12 | - |
17-68128291-G-A | KCNJ16 | c.168G>A | - | synonymous_variant | 5/5 | - |
15-63933770-A-G | HERC1 | c.11506T>C | p.Leu3836Leu | Synonymous | 60/78 | - |
5-180485353-G-A | BTNL9 | c.957G>A | p.Glu319Glu | Synonymous | 10/11 | - |
1-232649877-G-A | SIPA1L2 | c.1209C>T | p.Asn403Asn | Synonymous | 1/21 | - |
7-102495249-T-C | FBXL13 | c.1694A>G | p.Tyr565Cys | Missense | 17/20 | - |
22-40042720-C-T | CACNA1I | c.1296C>T | p.Gly432Gly | Synonymous | 8/36 | - |
5-43509364-T-C | C5orf34 | c.78A>G | p.Gln26Gln | Synonymous | 2/13 | - |
X-151303243-G-A | MAGEA10 | c.850C>T | p.Arg284Trp | Missense | 4/4 | - |
6-26505268-G-C | BTN1A1 | c.543G>C | p.Lys181Asn | Missense | 4/8 | - |
6-26505268-G-A | BTN1A1 | c.543G>A | p.Lys181Lys | Synonymous | 4/8 | - |
15-83674432-G-A | C15orf40 | c.379C>T | p.Arg127Cys | Missense | 4/4 | - |
X-2990073-C-G | ARSF | c.18C>G | p.Pro6Pro | Synonymous | 3/11 | - |
X-2990073-C-A | ARSF | c.18C>A | p.Pro6Pro | Synonymous | 3/11 | - |
7-107420206-G-A | SLC26A3 | c.1314C>T | p.Ser438Ser | Synonymous | 12/21 | - |
X-118222099-G-A | KIAA1210 | c.3094C>T | p.Arg1032Trp | Missense | 11/14 | - |
20-34782171-T-C | EPB41L1 | c.1338T>C | p.His446His | Synonymous | 12/22 | - |
12-131311786-T-G | STX2 | c.57A>C | p.Thr19Thr | Synonymous | 2/11 | - |
13-73482747-C-A | PIBF1 | c.1567C>A | p.His523Asn | Missense | 12/18 | - |
16-239272-C-G | LUC7L | c.1041G>C | p.Pro347Pro | Synonymous | 10/10 | - |
17-58499989-C-G | C17orf64 | c.36C>G | p.Asp12Glu | Missense | 1/6 | - |
3-108723983-C-T | MORC1 | c.1947G>A | p.Met649Ile | Missense | 19/28 | - |
11-93523838-C-T | MED17 | c.516C>T | p.Thr172Thr | Synonymous | 3/12 | - |
8-146067125-C-T | ZNF7 | c.633C>T | p.Ile211Ile | Synonymous | 5/5 | - |
13-33629393-C-T | KL | c.1540C>T | p.Pro514Ser | Missense | 3/5 | - |
3-122288312-G-T | DTX3L | c.1376G>T | p.Gly459Val | Missense | 3/5 | - |
1-45799121-G-T | MUTYH | c.303C>A | p.Tyr101* | Nonsense | 3/16 | - |
17-58499989-C-A | C17orf64 | c.36C>A | p.Asp12Glu | Missense | 1/6 | - |
1-160394010-C-T | VANGL2 | c.1242C>T | p.Tyr414Tyr | Synonymous | 7/8 | - |
11-6568278-A-G | DNHD1 | c.6109A>G | p.Ser2037Gly | Missense | 21/43 | - |
9-137688228-C-T | COL5A1 | c.2808C>T | p.Ser936Ser | Synonymous | 35/66 | - |
17-28539813-G-A | SLC6A4 | c.1149C>T | p.Leu383Leu | Synonymous | 9/15 | - |
7-31855625-C-G | PDE1C | c.1726G>C | p.Val576Leu | Missense | 15/17 | - |
16-66801331-C-T | TERB1 | c.1767G>A | p.Thr589Thr | Synonymous | 16/19 | - |
8-104948947-C-G | RIMS2 | c.2544C>G | p.Gly848Gly | Synonymous | 13/24 | - |
2-27282229-T-A | AGBL5 | c.2046T>A | p.Ser682Ser | Synonymous | 11/15 | - |
9-140395253-G-C | PNPLA7 | c.1572C>G | p.Pro524Pro | Synonymous | 15/34 | - |
9-140395253-G-A | PNPLA7 | c.1572C>T | p.Pro524Pro | Synonymous | 15/34 | - |
13-96743545-A-G | HS6ST3 | c.429A>G | p.Lys143Lys | Synonymous | 1/2 | - |
18-29101156-T-C | DSG2 | c.473T>C | p.Val158Ala | Missense | 5/15 | - |
12-16189694-T-A | DERA | c.*14T>A | - | 3-UTRSNV | 9/9 | - |
2-168114982-G-T | XIRP2 | c.*655G>T | - | 3_prime_UTR_variant | 11/11 | - |
2-168114982-G-A | XIRP2 | c.*655G>A | - | 3_prime_UTR_variant | 11/11 | - |
18-24496913-G-C | CHST9 | c.642C>G | p.Ile214Met | Missense | 6/6 | - |
X-19375782-A-C | PDHA1 | c.844A>C | p.Met282Leu | Missense | 9/11 | - |
X-71428259-A-G | ERCC6L | c.358T>C | p.Leu120Leu | Synonymous | 2/2 | - |
11-20483650-T-C | PRMT3 | c.1197T>C | p.Ile399Ile | Synonymous | 12/16 | - |
3-105404298-C-A | CBLB | c.2067G>T | p.Pro689Pro | Synonymous | 14/19 | - |
6-167570528-C-T | GPR31 | c.792G>A | p.Ser264Ser | Synonymous | 1/1 | - |
4-115544713-C-T | UGT8 | c.677C>T | p.Pro226Leu | Missense | 1/5 | - |
20-5903388-A-C | CHGB | c.598A>C | p.Asn200His | Missense | 4/5 | - |
1-156641609-G-T | NES | c.2371C>A | p.Leu791Ile | Missense | 4/4 | - |
7-20698751-C-G | ABCB5 | c.372+452C>G | - | IntronicSNV | - | 5/18 |
5-140580493-T-A | PCDHB11 | c.1146T>A | p.Val382Val | Synonymous | 1/1 | - |
1-115272916-T-C | CSDE1 | c.1226A>G | p.Asn409Ser | Missense | 11/19 | - |
17-76548866-C-G | DNAH17 | c.2200G>C | p.Val734Leu | Missense | 15/81 | - |
17-76548866-C-T | DNAH17 | c.2200G>A | p.Val734Ile | Missense | 15/81 | - |
1-152058192-G-A | TCHHL1 | c.1966C>T | p.Gln656* | Nonsense | 3/3 | - |
15-79382733-G-A | RASGRF1 | c.108C>T | p.Asn36Asn | Synonymous | 1/28 | - |
3-195516980-A-G | MUC4 | c.1471T>C | p.Ser491Pro | Missense | 2/25 | - |
12-106824188-T-A | POLR3B | c.1401T>A | p.Gly467Gly | Synonymous | 14/28 | - |
20-2384349-G-A | TGM6 | c.1216G>A | p.Glu406Lys | Missense | 9/13 | - |
2-212289001-G-A | ERBB4 | c.2745C>T | p.Thr915Thr | Synonymous | 23/27 | - |
2-168104627-G-A | XIRP2 | c.6725G>A | p.Arg2242Gln | Missense | 9/11 | - |
11-123813795-T-C | OR6T1 | c.751A>G | p.Ile251Val | Missense | 1/1 | - |
19-12089709-T-C | ZNF763 | c.979T>C | p.Tyr327His | Missense | 4/4 | - |
5-115338958-G-T | LVRN | c.1918G>T | p.Val640Phe | Missense | 12/20 | - |
2-179427508-G-A | TTN | c.75647C>T | p.Thr25216Met | Missense | 275/312 | - |
1-184764351-G-C | FAM129A | c.2547C>G | p.Asp849Glu | Missense | 14/14 | - |
7-100028757-G-T | MEPCE | c.1-292G>T | - | 5-UTRSNV | 2/5 | - |
7-133884081-G-A | LRGUK | c.1655G>A | p.Arg552His | Missense | 14/20 | - |
1-115272916-T-G | CSDE1 | c.1226A>C | p.Asn409Thr | Missense | 11/19 | - |
18-21897114-G-A | OSBPL1A | c.869C>T | p.Thr290Met | Missense | 11/28 | - |
18-76870412-A-G | ATP9B | c.351A>G | p.Thr117Thr | Synonymous | 3/30 | - |
18-76870412-A-C | ATP9B | c.351A>C | p.Thr117Thr | Synonymous | 3/30 | - |
3-121973114-C-T | CASR | c.78C>T | p.Ala26Ala | Synonymous | 2/7 | - |
6-27420048-G-C | ZNF184 | c.1290C>G | p.His430Gln | Missense | 6/6 | - |
1-103400635-A-G | COL11A1 | c.3125T>C | p.Val1042Ala | Missense | 43/65 | - |
2-43927568-C-G | PLEKHH2 | c.1471C>G | p.Leu491Val | Missense | 8/30 | - |
1-92799008-G-A | RPAP2 | c.1516G>A | p.Val506Ile | Missense | 9/13 | - |
1-236175309-A-T | NID1 | c.2439T>A | p.Pro813Pro | Synonymous | 12/20 | - |
X-153135273-C-T | L1CAM | c.1108G>A | p.Gly370Arg | Missense | 9/27 | - |
12-69742188-C-A | LYZ | c.1-1C>A | - | 5-UTRSNV | 1/4 | - |
2-69300191-T-C | ANTXR1 | c.450T>C | p.Asp150Asp | Synonymous | 6/18 | - |
16-66801331-C-G | TERB1 | c.1767G>C | p.Thr589Thr | Synonymous | 16/19 | - |
2-43927568-C-T | PLEKHH2 | c.1471C>T | p.Leu491Leu | Synonymous | 8/30 | - |
17-79941511-C-T | ASPSCR1 | c.240C>T | p.Pro80Pro | Synonymous | 3/16 | - |
6-39507889-C-T | KIF6 | c.1535G>A | p.Arg512His | Missense | 13/23 | - |
12-69742188-C-T | LYZ | c.1-1C>T | - | 5-UTRSNV | 1/4 | - |
6-74191870-T-C | MTO1 | c.1368T>C | p.Thr456Thr | Synonymous | 8/12 | - |
20-34089718-G-T | CEP250 | c.3945G>T | p.Leu1315Leu | Synonymous | 29/35 | - |
17-58150587-C-A | HEATR6 | c.522G>T | p.Leu174Phe | Missense | 4/20 | - |
18-77137293-G-A | ATP9B | c.3354G>A | p.Ala1118Ala | Synonymous | 30/30 | - |
12-56230980-C-T | MMP19 | c.1367G>A | p.Arg456Gln | Missense | 9/9 | - |
12-56230980-C-A | MMP19 | c.1367G>T | p.Arg456Leu | Missense | 9/9 | - |
19-54307322-G-A | NLRP12 | c.2469C>T | p.Leu823Leu | Synonymous | 6/10 | - |
16-88901744-G-T | GALNS | c.775C>A | p.Arg259Arg | Synonymous | 8/14 | - |
16-88901744-G-A | GALNS | c.775C>T | p.Arg259Trp | Missense | 8/14 | - |
13-103518708-G-A | ERCC5 | c.2296G>A | p.Gly766Arg | Missense | 10/15 | - |
19-38976655-C-T | RYR1 | c.5360C>T | p.Pro1787Leu | Missense | 34/106 | - |
6-56483852-T-G | DST | c.4980A>C | p.Val1660Val | Synonymous | 23/24 | - |
7-113518103-T-C | PPP1R3A | c.3044A>G | p.Asn1015Ser | Missense | 4/4 | - |
1-154574541-G-C | ADAR | c.577C>G | p.Pro193Ala | Missense | 2/15 | - |
19-36940698-A-G | ZNF566 | c.438T>C | p.His146His | Synonymous | 5/5 | - |
3-100084432-G-A | TOMM70 | c.1803C>T | p.Tyr601Tyr | Synonymous | 12/12 | - |
3-113172548-T-C | SPICE1 | c.1907A>G | p.Gln636Arg | Missense | 14/18 | - |
13-73505365-T-G | PIBF1 | c.1793T>G | p.Leu598Arg | Missense | 14/18 | - |
15-52901487-T-C | FAM214A | c.1624A>G | p.Ile542Val | Missense | 6/13 | - |
19-39911625-G-A | PLEKHG2 | c.1436G>A | p.Arg479His | Missense | 14/19 | - |
3-133191280-C-T | BFSP2 | c.1115C>T | p.Ala372Val | Missense | 6/7 | - |
11-100999245-G-A | PGR | c.557C>T | p.Pro186Leu | Missense | 1/8 | - |
3-169557891-G-A | LRRC31 | c.1538C>T | p.Pro513Leu | Missense | 9/9 | - |
12-26839488-C-A | ITPR2 | c.1074G>T | p.Pro358Pro | Synonymous | 11/57 | - |
10-14950485-T-C | DCLRE1C | c.1656A>G | p.Leu552Leu | Synonymous | 13/13 | - |
3-164730786-C-T | SI | c.4044G>A | p.Thr1348Thr | Synonymous | 34/48 | - |
19-52469312-G-A | ZNF350 | c.394C>T | p.Arg132Cys | Missense | 5/5 | - |
10-48371220-T-C | ZNF488 | c.688T>C | p.Cys230Arg | Missense | 2/2 | - |
3-113172548-T-G | SPICE1 | c.1907A>C | p.Gln636Pro | Missense | 14/18 | - |
2-179518003-A-G | TTN | c.31742-735T>C | - | IntronicSNV | - | 155/311 |
10-91474750-G-A | KIF20B | c.751G>A | p.Glu251Lys | Missense | 8/33 | - |
17-79993919-C-T | DCXR | c.646G>A | p.Ala216Thr | Missense | 8/8 | - |
21-33074633-A-T | SCAF4 | c.381T>A | p.Ile127Ile | Synonymous | 5/20 | - |
5-179201298-C-T | MAML1 | c.2471C>T | p.Pro824Leu | Missense | 5/5 | - |
19-41313437-C-T | EGLN2 | c.1149C>T | p.Ala383Ala | Synonymous | 5/6 | - |
2-152432811-A-T | NEB | c.11659T>A | p.Ser3887Thr | Missense | 79/150 | - |
12-26839488-C-T | ITPR2 | c.1074G>A | p.Pro358Pro | Synonymous | 11/57 | - |
2-44104728-C-T | ABCG8 | c.1785C>T | p.Phe595Phe | Synonymous | 12/13 | - |
1-183079767-G-A | LAMC1 | c.999G>A | p.Ala333Ala | Synonymous | 4/28 | - |
14-75475894-G-C | EIF2B2 | c.*3G>C | - | 3-UTRSNV | 8/8 | - |
14-75475894-G-A | EIF2B2 | c.*3G>A | - | 3-UTRSNV | 8/8 | - |
11-59211292-C-A | OR5A1 | c.651C>A | p.Leu217Leu | Synonymous | 1/1 | - |
1-173020073-A-T | TNFSF18 | c.30T>A | p.Cys10* | Nonsense | 1/3 | - |
11-1017797-C-A | MUC6 | c.5004G>T | p.Ala1668Ala | Synonymous | 31/33 | - |
11-1017797-C-G | MUC6 | c.5004G>C | p.Ala1668Ala | Synonymous | 31/33 | - |
11-1017797-C-T | MUC6 | c.5004G>A | p.Ala1668Ala | Synonymous | 31/33 | - |
13-46543185-A-G | ZC3H13 | c.3494T>C | p.Val1165Ala | Missense | 14/17 | - |
12-123983140-C-T | RILPL1 | c.752G>A | p.Arg251Gln | Missense | 4/7 | - |
3-124463914-C-T | UMPS | c.*983C>T | - | 3-UTRSNV | 6/6 | - |
7-150028098-A-G | LRRC61 | c.1-5853A>G | - | IntronicSNV | - | 1/1 |
8-77768390-T-G | ZFHX4 | c.9233T>G | p.Val3078Gly | Missense | 10/11 | - |
6-17773790-T-C | KIF13A | c.4243A>G | p.Met1415Val | Missense | 36/38 | - |
16-27373872-A-G | IL4R | c.1199A>G | p.Glu400Gly | Missense | 11/11 | - |
12-4652968-C-A | RAD51AP1 | c.107C>A | p.Ser36Tyr | Missense | 3/9 | - |
15-48779530-G-C | FBN1 | c.3442C>G | p.Pro1148Ala | Missense | 28/66 | - |
16-27373872-A-T | IL4R | c.1199A>T | p.Glu400Val | Missense | 11/11 | - |
20-34116307-C-T | C20orf173 | c.555G>A | p.Val185Val | Synonymous | 4/6 | - |
7-113518498-C-T | PPP1R3A | c.2649G>A | p.Arg883Arg | Synonymous | 4/4 | - |
4-187542094-T-C | FAT1 | c.5646A>G | p.Pro1882Pro | Synonymous | 10/27 | - |
20-5904028-C-T | CHGB | c.1238C>T | p.Pro413Leu | Missense | 4/5 | - |
4-100512412-T-C | MTTP | c.522T>C | p.Cys174Cys | Synonymous | 6/19 | - |
6-52768506-C-T | GSTA3 | c.107G>A | p.Gly36Glu | Missense | 3/7 | - |
12-50501452-G-A | GPD1 | c.646G>A | p.Ala216Thr | Missense | 6/8 | - |
1-151377407-A-C | POGZ | c.3945T>G | p.Thr1315Thr | Synonymous | 17/17 | - |
9-13186355-T-C | MPDZ | c.2395A>G | p.Lys799Glu | Missense | 18/46 | - |
12-52790684-C-G | KRT82 | c.1051G>C | p.Glu351Gln | Missense | 6/9 | - |
12-52790684-C-T | KRT82 | c.1051G>A | p.Glu351Lys | Missense | 6/9 | - |
X-73740841-C-T | SLC16A2 | c.447C>T | p.Leu149Leu | Synonymous | 2/6 | - |
1-222898824-G-A | BROX | c.507G>A | p.Ala169Ala | Synonymous | 7/13 | - |
7-7561580-T-C | COL28A1 | c.715A>G | p.Ile239Val | Missense | 5/35 | - |
10-101816863-C-G | CPN1 | c.918G>C | p.Thr306Thr | Synonymous | 6/9 | - |
5-122725761-T-C | CEP120 | c.1112A>G | p.Lys371Arg | Missense | 9/21 | - |
12-8085689-A-T | SLC2A3 | c.163T>A | p.Ser55Thr | Missense | 3/10 | - |
3-148559651-C-A | CPB1 | c.516C>A | p.Asp172Glu | Missense | 6/11 | - |
5-34954079-C-G | DNAJC21 | c.1542C>G | p.Val514Val | Synonymous | 12/13 | - |
3-148559651-C-T | CPB1 | c.516C>T | p.Asp172Asp | Synonymous | 6/11 | - |
1-248224618-C-G | OR2L3 | c.635C>G | p.Ala212Gly | Missense | 1/1 | - |
17-74004347-G-A | EVPL | c.4939C>T | p.Arg1647Cys | Missense | 22/22 | - |
2-190531615-T-A | ASNSD1 | c.757T>A | p.Leu253Met | Missense | 4/6 | - |
8-145139727-C-T | GPAA1 | c.1113C>T | p.Ile371Ile | Synonymous | 8/12 | - |
11-68213989-C-T | LRP5 | c.4574C>T | p.Ala1525Val | Missense | 22/23 | - |
19-30192083-A-G | C19orf12 | c.*1536T>C | - | 3-UTRSNV | 3/3 | - |
1-100327183-T-C | AGL | c.207T>C | p.Asn69Asn | Synonymous | 3/34 | - |
6-43017728-C-A | CUL7 | c.1542G>T | p.Gln514His | Missense | 6/26 | - |
1-236192917-C-T | NID1 | c.1671G>A | p.Pro557Pro | Synonymous | 7/20 | - |
6-63990101-G-A | LGSN | c.1355C>T | p.Pro452Leu | Missense | 4/4 | - |
1-236192917-C-A | NID1 | c.1671G>T | p.Pro557Pro | Synonymous | 7/20 | - |
17-41256279-C-A | BRCA1 | c.302-1G>T | - | IntronicSNV | - | 5/22 |
17-41256279-C-T | BRCA1 | c.302-1G>A | - | IntronicSNV | - | 5/22 |
21-43547165-G-A | UMODL1 | c.3343G>A | p.Glu1115Lys | Missense | 19/23 | - |
9-124072992-G-A | GSN | c.535G>A | p.Val179Met | Missense | 4/17 | - |
21-43547165-G-T | UMODL1 | c.3343G>T | p.Glu1115* | Nonsense | 19/23 | - |
10-91190560-T-C | SLC16A12 | c.*2261A>G | - | 3-UTRSNV | 8/8 | - |
19-57088558-A-G | ZNF470 | c.761A>G | p.Lys254Arg | Missense | 6/6 | - |
8-71646544-T-G | XKR9 | c.1007T>G | p.Leu336Arg | Missense | 5/5 | - |
10-27508746-G-A | ACBD5 | c.531C>T | p.Thr177Thr | Synonymous | 6/13 | - |
3-142281353-C-T | ATR | c.891G>A | p.Lys297Lys | Synonymous | 4/47 | - |
3-142281353-C-G | ATR | c.891G>C | p.Lys297Asn | Missense | 4/47 | - |
8-144994908-C-A | PLEC | c.9162G>T | p.Ala3054Ala | Synonymous | 33/33 | - |
7-129098165-G-A | STRIP2 | c.1148G>A | p.Arg383Gln | Missense | 10/20 | - |
8-144994908-C-G | PLEC | c.9162G>C | p.Ala3054Ala | Synonymous | 33/33 | - |
14-105180903-C-T | INF2 | c.3404C>T | p.Thr1135Met | Missense | 21/23 | - |
8-144994908-C-T | PLEC | c.9162G>A | p.Ala3054Ala | Synonymous | 33/33 | - |
9-137686951-G-C | COL5A1 | c.2724G>C | p.Pro908Pro | Synonymous | 33/66 | - |
9-137686951-G-A | COL5A1 | c.2724G>A | p.Pro908Pro | Synonymous | 33/66 | - |
7-130368464-G-T | TSGA13 | c.70C>A | p.Arg24Ser | Missense | 3/8 | - |
7-130368464-G-A | TSGA13 | c.70C>T | p.Arg24Cys | Missense | 3/8 | - |
2-1459895-C-T | TPO | c.660C>T | p.Val220Val | Synonymous | 7/17 | - |
16-66975712-G-A | CES2 | c.1098G>A | - | synonymous_variant | 8/12 | - |
5-172396450-G-A | RPL26L1 | c.344G>A | p.Arg115Gln | Missense | 4/4 | - |
12-51753017-C-T | GALNT6 | c.1267G>A | p.Val423Ile | Missense | 8/12 | - |
16-2821525-G-C | ELOB | c.*466C>G | - | 3-UTRSNV | 4/4 | - |
4-104004073-C-A | BDH2 | c.546G>T | p.Thr182Thr | Synonymous | 8/10 | - |
4-104004073-C-T | BDH2 | c.546G>A | p.Thr182Thr | Synonymous | 8/10 | - |
20-43836872-A-C | SEMG1 | c.934A>C | p.Ser312Arg | Missense | 2/3 | - |
2-160086395-A-C | TANC1 | c.*266A>C | - | 3-UTRSNV | 27/27 | - |
7-133979711-G-A | SLC35B4 | c.870C>T | p.Asn290Asn | Synonymous | 10/10 | - |
1-43613649-G-A | FAM183A | c.27G>A | p.Val9Val | Synonymous | 1/4 | - |
1-43613649-G-T | FAM183A | c.27G>T | p.Val9Val | Synonymous | 1/4 | - |
6-117860508-A-G | DCBLD1 | c.1067A>G | p.Lys356Arg | Missense | 9/15 | - |
2-69650730-G-A | NFU1 | c.214C>T | p.Arg72Cys | Missense | 3/8 | - |
19-48525466-C-T | ELSPBP1 | c.554C>T | p.Pro185Leu | Missense | 6/7 | - |
12-98928103-C-T | TMPO | c.2068C>T | p.Arg690Cys | Missense | 4/4 | - |
14-23874494-C-T | MYH6 | c.440G>A | p.Arg147Lys | Missense | 5/39 | - |
3-158408032-G-A | GFM1 | c.1990G>A | p.Val664Ile | Missense | 16/18 | - |
1-220162004-C-A | EPRS | c.2703G>T | p.Ala901Ala | Synonymous | 19/32 | - |
6-129813508-T-A | LAMA2 | c.8124T>A | p.Gly2708Gly | Synonymous | 58/65 | - |
6-129813508-T-C | LAMA2 | c.8124T>C | p.Gly2708Gly | Synonymous | 58/65 | - |
15-51975585-C-A | SCG3 | c.351C>A | p.Ile117Ile | Synonymous | 4/12 | - |
1-184006362-C-G | COLGALT2 | c.130G>C | p.Val44Leu | Missense | 1/12 | - |
9-35092480-T-G | PIGO | c.1404A>C | p.Ala468Ala | Synonymous | 7/11 | - |
13-96743538-A-C | HS6ST3 | c.422A>C | p.Asn141Thr | Missense | 1/2 | - |
13-96743538-A-G | HS6ST3 | c.422A>G | p.Asn141Ser | Missense | 1/2 | - |
20-9404475-G-A | PLCB4 | c.2364G>A | p.Pro788Pro | Synonymous | 24/36 | - |
1-220162004-C-T | EPRS | c.2703G>A | p.Ala901Ala | Synonymous | 19/32 | - |
5-132232433-T-C | AFF4 | c.1889A>G | p.Tyr630Cys | Missense | 11/21 | - |
1-248367015-G-A | OR2M3 | c.646G>A | p.Ala216Thr | Missense | 1/1 | - |
5-137522945-C-T | KIF20A | c.2516C>T | p.Pro839Leu | Missense | 19/19 | - |
15-51975585-C-T | SCG3 | c.351C>T | p.Ile117Ile | Synonymous | 4/12 | - |
18-13100451-A-G | CEP192 | c.6811A>G | p.Lys2271Glu | Missense | 38/45 | - |
15-83455845-C-T | FSD2 | c.298G>A | p.Val100Ile | Missense | 2/13 | - |
5-126140540-G-A | LMNB1 | c.432G>A | p.Ser144Ser | Synonymous | 2/11 | - |
6-21065449-C-T | CDKAL1 | c.1226C>T | p.Pro409Leu | Missense | 12/16 | - |
6-43581765-T-C | POLH | c.1613T>C | p.Leu538Pro | Missense | 11/11 | - |
6-21065449-C-G | CDKAL1 | c.1226C>G | p.Pro409Arg | Missense | 12/16 | - |
6-21065449-C-A | CDKAL1 | c.1226C>A | p.Pro409Gln | Missense | 12/16 | - |
8-68396044-C-T | CPA6 | c.797G>A | p.Arg266His | Missense | 8/11 | - |
1-33474637-G-A | AK2 | c.*4145C>T | - | IntergenicSNV | 6/6 | - |
1-92146589-C-G | TGFBR3 | c.*2707G>C | - | 3-UTRSNV | 17/17 | - |
6-35426175-C-T | FANCE | c.1071C>T | p.Leu357Leu | Synonymous | 5/10 | - |
1-152883163-A-T | IVL | c.890A>T | p.Asp297Val | Missense | 2/2 | - |
7-104782648-T-C | SRPK2 | c.1317A>G | p.Pro439Pro | Synonymous | 10/15 | - |
6-39872504-C-A | DAAM2 | c.*2691C>A | - | 3-UTRSNV | 25/25 | - |
11-74547498-C-T | RNF169 | c.1850C>T | p.Ser617Phe | Missense | 6/6 | - |
5-32053937-C-T | PDZD2 | c.1848C>T | p.Val616Val | Synonymous | 10/25 | - |
1-202933779-G-T | CYB5R1 | c.520C>A | p.Arg174Arg | Synonymous | 6/9 | - |
15-90167139-G-A | TICRR | c.3598G>A | p.Gly1200Ser | Missense | 20/22 | - |
1-248367014-T-C | OR2M3 | c.645T>C | p.Ile215Ile | Synonymous | 1/1 | - |
1-248367014-T-G | OR2M3 | c.645T>G | p.Ile215Met | Missense | 1/1 | - |
6-112671258-C-T | RFPL4B | c.348C>T | p.Ser116Ser | Synonymous | 3/3 | - |
1-154574541-G-T | ADAR | c.577C>A | p.Pro193Thr | Missense | 2/15 | - |
17-47915959-G-A | TAC4 | c.*45C>T | - | 3-UTRSNV | 5/5 | - |
17-47915959-G-C | TAC4 | c.*45C>G | - | 3-UTRSNV | 5/5 | - |
8-102555474-A-G | GRHL2 | c.26A>G | p.Lys9Arg | Missense | 2/16 | - |
8-102555474-A-T | GRHL2 | c.26A>T | p.Lys9Ile | Missense | 2/16 | - |
6-39872504-C-T | DAAM2 | c.*2691C>T | - | 3-UTRSNV | 25/25 | - |
16-23847583-G-A | PRKCB | c.87G>A | p.Lys29Lys | Synonymous | 1/17 | - |
8-101008701-C-T | RGS22 | c.3007G>A | p.Gly1003Arg | Missense | 20/28 | - |
17-37682394-G-A | CDK12 | c.3585G>A | p.Thr1195Thr | Synonymous | 13/14 | - |
16-2143865-G-A | PKD1 | c.10765C>T | p.Leu3589Leu | Synonymous | 36/46 | - |
2-212289001-G-C | ERBB4 | c.2745C>G | p.Thr915Thr | Synonymous | 23/27 | - |
11-1016800-G-A | MUC6 | c.6001C>T | p.Pro2001Ser | Missense | 31/33 | - |
1-151215011-A-G | PIP5K1A | c.1569A>G | p.Leu523Leu | Synonymous | 13/15 | - |
5-7900220-A-G | MTRR | c.*49A>G | - | 3-UTRSNV | 15/15 | - |
18-61390518-C-T | SERPINB11 | c.1064C>T | p.Ala355Val | Missense | 9/9 | - |
13-101020733-G-T | PCCA | c.1651G>T | p.Val551Phe | Missense | 19/24 | - |
11-9830600-G-C | SBF2 | c.4156-51C>G | - | IntronicSNV | - | 30/39 |
5-86564716-C-T | RASA1 | c.448C>T | p.Leu150Phe | Missense | 1/25 | - |
19-39669105-G-T | PAK4 | c.1662G>T | p.Val554Val | Synonymous | 11/11 | - |
4-88537450-C-A | DSPP | c.3636C>A | p.Asp1212Glu | Missense | 5/5 | - |
7-117199709-G-C | CFTR | c.1584G>C | p.Glu528Asp | Missense | 11/27 | - |
7-117199709-G-A | CFTR | c.1584G>A | p.Glu528Glu | Synonymous | 11/27 | - |
8-101727792-C-T | PABPC1 | c.541G>A | p.Ala181Thr | Missense | 4/15 | - |
12-94642023-C-T | PLXNC1 | c.2613C>T | p.Asn871Asn | Synonymous | 14/31 | - |
10-90524335-C-T | LIPN | c.395C>T | p.Ser132Leu | Missense | 3/9 | - |
19-39669105-G-A | PAK4 | c.1662G>A | p.Val554Val | Synonymous | 11/11 | - |
5-169509815-G-T | DOCK2 | c.5446G>T | p.Ala1816Ser | Missense | 52/52 | - |
4-88537450-C-T | DSPP | c.3636C>T | p.Asp1212Asp | Synonymous | 5/5 | - |
7-117199709-G-T | CFTR | c.1584G>T | p.Glu528Asp | Missense | 11/27 | - |
16-31470646-A-C | ARMC5 | c.1-200A>C | - | 5-UTRSNV | 1/4 | - |
20-19956311-G-C | RIN2 | c.1789G>C | p.Val597Leu | Missense | 8/12 | - |
20-19956311-G-T | RIN2 | c.1789G>T | p.Val597Leu | Missense | 8/12 | - |
7-82785132-T-C | PCLO | c.825A>G | p.Gln275Gln | Synonymous | 2/20 | - |
X-100653420-C-A | GLA | c.937G>T | p.Asp313Tyr | Missense | 6/7 | - |
11-87032607-A-G | TMEM135 | c.*232A>G | - | 3-UTRSNV | 15/15 | - |
2-1093917-C-T | SNTG2 | c.246C>T | p.Gly82Gly | Synonymous | 3/17 | - |
2-99006129-C-A | CNGA3 | c.458C>A | p.Thr153Lys | Missense | 6/8 | - |
10-79797043-A-G | RPS24 | c.371A>G | p.Asn124Ser | Missense | 4/5 | - |
19-14674811-C-T | TECR | c.285C>T | p.Tyr95Tyr | Synonymous | 6/13 | - |
5-76332468-G-T | AGGF1 | c.604G>T | p.Val202Leu | Missense | 4/14 | - |
1-116931628-C-A | ATP1A1 | c.741C>A | p.Thr247Thr | Synonymous | 7/23 | - |
11-59245593-G-T | OR4D10 | c.691G>T | p.Glu231* | Nonsense | 1/1 | - |
19-57839518-A-G | ZNF543 | c.688A>G | p.Thr230Ala | Missense | 4/4 | - |
5-121356402-G-C | SRFBP1 | c.972G>C | p.Gly324Gly | Synonymous | 6/8 | - |
1-151735594-T-A | MRPL9 | c.182A>T | p.Lys61Met | Missense | 2/7 | - |
20-36989391-G-A | LBP | c.622G>A | p.Asp208Asn | Missense | 6/15 | - |
6-90577547-C-G | CASP8AP2 | c.4538C>G | p.Thr1513Arg | Missense | 8/10 | - |
16-48117659-A-T | ABCC12 | c.4047T>A | p.Phe1349Leu | Missense | 29/29 | - |
20-32856838-C-G | ASIP | c.264C>G | p.Pro88Pro | Synonymous | 3/3 | - |
1-165634336-C-T | ALDH9A1 | c.1381G>A | p.Glu461Lys | Missense | 10/11 | - |
11-9321173-A-G | TMEM41B | c.197T>C | p.Phe66Ser | Missense | 2/3 | - |
1-186324810-A-G | TPR | c.1979T>C | p.Ile660Thr | Missense | 16/51 | - |
16-89238215-C-A | CDH15 | c.1-25C>A | - | 5-UTRSNV | 1/14 | - |
10-33502357-G-A | NRP1 | c.1571C>T | p.Ser524Leu | Missense | 9/12 | - |
12-113875765-C-A | SDSL | c.871C>A | p.Leu291Ile | Missense | 9/9 | - |
2-26432662-G-T | HADHA | c.1072C>A | p.Gln358Lys | Missense | 11/20 | - |
17-46474118-G-A | SKAP1 | c.76C>T | p.Arg26Trp | Missense | 2/13 | - |
6-90577547-C-A | CASP8AP2 | c.4538C>A | p.Thr1513Lys | Missense | 8/10 | - |
8-121463265-T-C | MTBP | c.222T>C | p.Pro74Pro | Synonymous | 3/22 | - |
16-69726254-G-A | NFAT5 | c.2244G>A | p.Glu748Glu | Synonymous | 14/16 | - |
12-21919425-G-A | KCNJ8 | c.507C>T | p.Ile169Ile | Synonymous | 3/3 | - |
2-234405421-C-T | USP40 | c.2770G>A | - | missense_variant | 23/31 | - |
12-10978248-C-T | TAS2R10 | c.621G>A | p.Met207Ile | Missense | 1/1 | - |
1-112999000-G-A | CTTNBP2NL | c.886G>A | p.Val296Met | Missense | 6/6 | - |
20-34782171-T-G | EPB41L1 | c.1338T>G | p.His446Gln | Missense | 12/22 | - |
3-129134242-G-A | EFCAB12 | c.684C>T | p.Val228Val | Synonymous | 4/9 | - |
20-19970804-G-A | RIN2 | c.2064G>A | p.Leu688Leu | Synonymous | 9/12 | - |
14-51372238-T-A | PYGL | c.2416A>T | p.Ile806Leu | Missense | 20/20 | - |
10-79789200-G-C | POLR3A | c.1-35C>G | - | 5-UTRSNV | 1/31 | - |
16-89985778-G-A | MC1R | c.112G>A | p.Val38Met | Missense | 1/1 | - |
5-72874636-A-G | UTP15 | c.1105A>G | p.Lys369Glu | Missense | 10/13 | - |
13-32776153-T-C | FRY | c.3822T>C | p.Tyr1274Tyr | Synonymous | 30/61 | - |
11-5758386-C-T | OR56B1 | c.640C>T | p.Leu214Phe | Missense | 1/1 | - |
3-33431826-C-T | UBP1 | c.1620G>A | p.Lys540Lys | Synonymous | 16/16 | - |
2-135206340-C-A | MGAT5 | c.2148C>A | p.Ala716Ala | Synonymous | 16/16 | - |
8-99162823-G-C | POP1 | c.2013G>C | p.Leu671Leu | Synonymous | 14/16 | - |
13-115090931-C-G | CHAMP1 | c.1614C>G | p.Ala538Ala | Synonymous | 3/3 | - |
6-44270805-C-T | AARS2 | c.2253G>A | p.Gly751Gly | Synonymous | 16/22 | - |
6-90577547-C-T | CASP8AP2 | c.4538C>T | p.Thr1513Ile | Missense | 8/10 | - |
2-186654051-A-T | FSIP2 | c.2455A>T | p.Thr819Ser | Missense | 16/23 | - |
9-97329625-C-T | FBP2 | c.632G>A | p.Ser211Asn | Missense | 5/7 | - |
5-41186220-T-C | C6 | c.678A>G | p.Thr226Thr | Synonymous | 6/18 | - |
17-72916526-C-G | USH1G | c.405G>C | p.Leu135Leu | Synonymous | 2/3 | - |
1-33476404-T-G | AK2 | c.*2378A>C | - | IntergenicSNV | 6/6 | - |
1-155932847-G-A | ARHGEF2 | c.768C>T | p.Asp256Asp | Synonymous | 8/22 | - |
12-19506870-C-G | PLEKHA5 | c.2574C>G | p.Pro858Pro | Synonymous | 20/26 | - |
2-192922499-G-A | TMEFF2 | c.442C>T | p.His148Tyr | Missense | 5/10 | - |
5-149245754-A-G | PDE6A | c.2337T>C | p.Phe779Phe | Synonymous | 20/22 | - |
11-102584528-A-G | MMP8 | c.1251T>C | p.Phe417Phe | Synonymous | 9/10 | - |
8-13357316-C-T | DLC1 | c.265G>A | p.Asp89Asn | Missense | 2/18 | - |
8-122626691-G-A | HAS2 | c.1317C>T | p.Tyr439Tyr | Synonymous | 4/4 | - |
7-128495338-C-A | FLNC | c.7122C>A | p.Asp2374Glu | Missense | 42/47 | - |
10-7214505-C-A | SFMBT2 | c.2103G>T | p.Gln701His | Missense | 18/21 | - |
1-151341570-C-T | SELENBP1 | c.174+348G>A | - | IntronicSNV | - | 3/10 |
7-128495338-C-T | FLNC | c.7122C>T | p.Asp2374Asp | Synonymous | 42/47 | - |
1-147091416-G-A | BCL9 | c.1455G>A | p.Arg485Arg | Synonymous | 8/10 | - |
1-45347394-C-T | EIF2B3 | c.674G>A | p.Arg225Gln | Missense | 7/12 | - |
1-212792903-C-T | ATF3 | c.*6C>T | - | 3-UTRSNV | 4/4 | - |
14-103369593-G-A | TRAF3 | c.962G>A | p.Arg321Gln | Missense | 11/12 | - |
1-228547913-G-A | OBSCN | c.19320G>A | p.Thr6440Thr | Synonymous | 81/81 | - |
1-228547913-G-T | OBSCN | c.19320G>T | p.Thr6440Thr | Synonymous | 81/81 | - |
X-123047668-G-C | XIAP | c.*6637G>C | - | 3-UTRSNV | 7/7 | - |
21-43258138-C-A | PRDM15 | c.2004G>T | p.Pro668Pro | Synonymous | 15/31 | - |
1-152882512-A-G | IVL | c.239A>G | p.Lys80Arg | Missense | 2/2 | - |
2-64780144-A-G | AFTPH | c.1536A>G | p.Gln512Gln | Synonymous | 2/9 | - |
10-14939067-A-C | SUV39H2 | c.220A>C | p.Arg74Arg | Synonymous | 2/5 | - |
9-5921028-G-A | KIAA2026 | c.4968C>T | p.Thr1656Thr | Synonymous | 8/8 | - |
19-3909541-G-C | ATCAY | c.705G>C | p.Leu235Leu | Synonymous | 7/13 | - |
9-136650966-C-T | VAV2 | c.1464G>A | p.Gln488Gln | Synonymous | 17/30 | - |
3-169492236-G-A | MYNN | c.153G>A | p.Ala51Ala | Synonymous | 2/8 | - |
11-1093273-T-C | MUC2 | c.12508T>C | - | synonymous_variant | 32/51 | - |
11-1093273-T-A | MUC2 | c.12508T>A | - | missense_variant | 32/51 | - |
11-1093273-T-G | MUC2 | c.12508T>G | - | missense_variant | 32/51 | - |
12-131311786-T-C | STX2 | c.57A>G | p.Thr19Thr | Synonymous | 2/11 | - |
1-157545384-T-A | FCRL4 | c.1478A>T | p.Tyr493Phe | Missense | 12/12 | - |
3-130345381-G-A | COL6A6 | c.4931G>A | p.Arg1644His | Missense | 24/36 | - |
20-32856838-C-T | ASIP | c.264C>T | p.Pro88Pro | Synonymous | 3/3 | - |
6-116833053-T-C | TRAPPC3L | c.241-11224A>G | - | IntronicSNV | - | 3/4 |
14-65241867-G-T | SPTB | c.4818C>A | p.Tyr1606* | Nonsense | 22/35 | - |
8-99779588-C-T | STK3 | c.119G>A | p.Ser40Asn | Missense | 3/11 | - |
5-55206398-G-T | IL31RA | c.1540G>T | p.Glu514* | Nonsense | 12/15 | - |
22-32651262-A-G | SLC5A4 | c.55T>C | p.Leu19Leu | Synonymous | 1/15 | - |
7-123336722-G-A | WASL | c.540C>T | p.Asn180Asn | Synonymous | 6/11 | - |
5-149265875-G-A | PDE6A | c.1791C>T | p.Phe597Phe | Synonymous | 14/22 | - |
6-35911856-G-A | SLC26A8 | c.2734C>T | p.Pro912Ser | Missense | 20/20 | - |
2-85133216-G-A | TMSB10 | c.75G>A | p.Glu25Glu | Synonymous | 2/3 | - |
2-85133216-G-C | TMSB10 | c.75G>C | p.Glu25Asp | Missense | 2/3 | - |
4-169842814-C-T | PALLD | c.2929C>T | p.Arg977Cys | Missense | 17/21 | - |
12-20801798-T-C | PDE3A | c.2742T>C | p.Phe914Phe | Synonymous | 13/16 | - |
5-89979518-C-T | ADGRV1 | c.5780C>T | p.Thr1927Met | Missense | 28/90 | - |
15-71128691-G-A | LARP6 | c.354C>T | p.His118His | Synonymous | 2/3 | - |
5-55206398-G-A | IL31RA | c.1540G>A | p.Glu514Lys | Missense | 12/15 | - |
11-56086258-T-C | OR8K3 | c.476T>C | p.Val159Ala | Missense | 1/1 | - |
20-44506208-G-A | ZSWIM3 | c.1011G>A | p.Glu337Glu | Synonymous | 2/2 | - |
10-61828954-G-A | ANK3 | c.11685C>T | p.Ser3895Ser | Synonymous | 37/44 | - |
17-73830188-C-G | UNC13D | c.2335G>C | p.Val779Leu | Missense | 24/32 | - |
2-189862995-T-C | COL3A1 | c.1927T>C | p.Leu643Leu | Synonymous | 28/51 | - |
17-73830188-C-T | UNC13D | c.2335G>A | p.Val779Met | Missense | 24/32 | - |
6-18264096-C-G | DEK | c.123G>C | p.Glu41Asp | Missense | 2/10 | - |
22-43471583-T-C | TTLL1 | c.10A>G | p.Lys4Glu | Missense | 3/11 | - |
10-68857397-T-G | LRRTM3 | c.1589T>G | p.Ile530Arg | Missense | 3/3 | - |
8-19363304-C-T | CSGALNACT1 | c.42G>A | p.Arg14Arg | Synonymous | 4/10 | - |
9-131394469-G-T | SPTAN1 | c.6811G>T | p.Ala2271Ser | Missense | 52/56 | - |
1-119575818-C-G | WARS2 | c.799G>C | p.Ala267Pro | Missense | 6/6 | - |
16-239272-C-T | LUC7L | c.1041G>A | p.Pro347Pro | Synonymous | 10/10 | - |
17-41256279-C-G | BRCA1 | c.302-1G>C | - | IntronicSNV | - | 5/22 |
3-159713243-C-T | IL12A | c.659C>T | p.Pro220Leu | Missense | 7/7 | - |
3-171406501-G-A | PLD1 | c.1504C>T | p.Arg502Trp | Missense | 14/27 | - |
12-7169209-C-T | C1S | c.1-8C>T | - | 5-UTRSNV | 2/12 | - |
1-94032937-T-C | BCAR3 | c.2198A>G | p.Asn733Ser | Missense | 13/14 | - |
17-38643441-C-T | TNS4 | c.1135G>A | p.Gly379Ser | Missense | 4/13 | - |
7-56087409-G-A | PSPH | c.159C>T | p.Gly53Gly | Synonymous | 5/8 | - |
5-33963870-C-T | SLC45A2 | c.814G>A | p.Glu272Lys | Missense | 3/7 | - |
2-15470848-C-T | NBAS | c.4221G>A | p.Leu1407Leu | Synonymous | 36/52 | - |
8-144994916-C-T | PLEC | c.9154G>A | p.Val3052Ile | Missense | 33/33 | - |
9-129957451-C-A | RALGPS1 | c.992C>A | p.Thr331Lys | Missense | 12/19 | - |
5-64878891-G-T | PPWD1 | c.1377G>T | p.Thr459Thr | Synonymous | 8/11 | - |
15-70959576-C-T | UACA | c.3408G>A | p.Val1136Val | Synonymous | 16/19 | - |
11-34149075-C-T | NAT10 | c.1173C>T | p.Ala391Ala | Synonymous | 12/29 | - |
18-29867688-T-C | GAREM1 | c.872A>G | p.Lys291Arg | Missense | 4/6 | - |
11-18044410-A-G | TPH1 | c.1095T>C | p.Leu365Leu | Synonymous | 10/11 | - |
1-160169664-G-A | CASQ1 | c.1008G>A | p.Thr336Thr | Synonymous | 10/11 | - |
9-100367813-A-G | TSTD2 | c.1065T>C | p.Cys355Cys | Synonymous | 8/10 | - |
11-56380774-C-G | OR5M1 | c.205G>C | p.Val69Leu | Missense | 1/1 | - |
7-73122977-G-C | STX1A | c.150C>G | p.Asn50Lys | Missense | 3/10 | - |
7-73122977-G-A | STX1A | c.150C>T | p.Asn50Asn | Synonymous | 3/10 | - |
8-134042112-G-A | TG | c.7083G>A | p.Ala2361Ala | Synonymous | 41/48 | - |
5-64878891-G-A | PPWD1 | c.1377G>A | p.Thr459Thr | Synonymous | 8/11 | - |
5-64878891-G-C | PPWD1 | c.1377G>C | p.Thr459Thr | Synonymous | 8/11 | - |
1-245849729-G-A | KIF26B | c.3444G>A | p.Pro1148Pro | Synonymous | 12/15 | - |
8-19363304-C-A | CSGALNACT1 | c.42G>T | p.Arg14Arg | Synonymous | 4/10 | - |
20-41076932-C-A | PTPRT | c.1488G>T | p.Gly496Gly | Synonymous | 9/31 | - |
20-41076932-C-G | PTPRT | c.1488G>C | p.Gly496Gly | Synonymous | 9/31 | - |
20-41076932-C-T | PTPRT | c.1488G>A | p.Gly496Gly | Synonymous | 9/31 | - |
2-37032684-G-C | VIT | c.1221G>C | p.Thr407Thr | Synonymous | 13/15 | - |
2-37032684-G-A | VIT | c.1221G>A | p.Thr407Thr | Synonymous | 13/15 | - |
16-20999097-G-A | DNAH3 | c.6800C>T | p.Ser2267Leu | Missense | 46/62 | - |
16-20999097-G-C | DNAH3 | c.6800C>G | p.Ser2267Trp | Missense | 46/62 | - |
11-77812084-T-C | ALG8 | c.1507A>G | p.Ile503Val | Missense | 13/13 | - |
10-132891465-C-A | TCERG1L | c.1721G>T | p.Arg574Leu | Missense | 12/12 | - |
20-44141400-A-G | SPINT3 | c.161T>C | p.Phe54Ser | Missense | 2/2 | - |
15-99673019-C-G | SYNM | c.4451C>G | - | missense_variant | 5/5 | - |
22-50659298-C-T | TUBGCP6 | c.3490G>A | p.Val1164Met | Missense | 16/25 | - |
2-21237971-G-A | APOB | c.3670C>T | p.Arg1224Trp | Missense | 23/29 | - |
8-134042112-G-T | TG | c.7083G>T | p.Ala2361Ala | Synonymous | 41/48 | - |
1-78183670-G-T | USP33 | c.1893C>A | p.Thr631Thr | Synonymous | 18/25 | - |
1-979583-G-A | AGRN | c.2094G>A | p.Ser698Ser | Synonymous | 11/36 | - |
16-23391887-G-A | SCNN1B | c.1688G>A | p.Arg563Gln | Missense | 13/13 | - |
1-217604632-G-A | GPATCH2 | c.1442C>T | p.Thr481Met | Missense | 10/10 | - |
16-2548257-C-T | TBC1D24 | c.984C>T | p.Ala328Ala | Synonymous | 3/7 | - |
7-883105-C-T | SUN1 | c.456C>T | p.Pro152Pro | Synonymous | 5/18 | - |
9-79971671-G-A | VPS13A | c.7694G>A | p.Arg2565Lys | Missense | 55/69 | - |
9-129957451-C-T | RALGPS1 | c.992C>T | p.Thr331Ile | Missense | 12/19 | - |
16-67469969-G-A | HSD11B2 | c.588G>A | p.Ala196Ala | Synonymous | 3/5 | - |
21-33246096-C-T | HUNK | c.109C>T | p.Leu37Leu | Synonymous | 1/11 | - |
16-67469969-G-T | HSD11B2 | c.588G>T | p.Ala196Ala | Synonymous | 3/5 | - |
5-89981639-C-T | ADGRV1 | c.6317C>T | p.Ala2106Val | Missense | 29/90 | - |
12-126138386-C-T | TMEM132B | c.2367C>T | p.Phe789Phe | Synonymous | 9/9 | - |
3-128631481-G-A | ACAD9 | c.*31G>A | - | 3-UTRSNV | 18/18 | - |
12-126138386-C-A | TMEM132B | c.2367C>A | p.Phe789Leu | Missense | 9/9 | - |
11-1271847-C-A | MUC5B | c.13737C>A | p.Ala4579Ala | Synonymous | 31/49 | - |
1-94884006-C-T | ABCD3 | c.1-29C>T | - | 5-UTRSNV | 1/23 | - |
20-57599787-T-C | TUBB1 | c.1305T>C | p.Asp435Asp | Synonymous | 4/4 | - |
6-111694124-C-T | REV3L | c.5434G>A | p.Asp1812Asn | Missense | 14/33 | - |
9-93641151-T-C | SYK | c.1428T>C | p.Asn476Asn | Synonymous | 10/13 | - |
19-38990593-C-T | RYR1 | c.7260C>T | p.His2420His | Synonymous | 45/106 | - |
12-62946739-A-G | MON2 | c.2995A>G | p.Lys999Glu | Missense | 24/35 | - |
11-64666182-C-G | ATG2A | c.4597G>C | p.Ala1533Pro | Missense | 32/41 | - |
2-152112161-C-G | RBM43 | c.100G>C | p.Val34Leu | Missense | 2/4 | - |
4-155505888-G-A | FGA | c.1989C>T | p.Cys663Cys | Synonymous | 6/6 | - |
17-73485707-G-A | TMEM94 | c.918G>A | p.Gly306Gly | Synonymous | 9/32 | - |
1-54637048-T-C | CYB5RL | c.*3244A>G | - | IntergenicSNV | 8/8 | - |
1-182617348-G-T | RGS8 | c.338C>A | p.Thr113Asn | Missense | 5/6 | - |
1-94884006-C-G | ABCD3 | c.1-29C>G | - | 5-UTRSNV | 1/23 | - |
6-111694124-C-G | REV3L | c.5434G>C | p.Asp1812His | Missense | 14/33 | - |
6-111694124-C-A | REV3L | c.5434G>T | p.Asp1812Tyr | Missense | 14/33 | - |
2-152112161-C-T | RBM43 | c.100G>A | p.Val34Ile | Missense | 2/4 | - |
19-33467426-C-A | FAAP24 | c.486C>A | p.Thr162Thr | Synonymous | 5/5 | - |
15-58833993-G-A | LIPC | c.283G>A | p.Val95Met | Missense | 3/9 | - |
14-53619369-C-A | DDHD1 | c.448G>T | p.Gly150Cys | Missense | 1/13 | - |
11-5878836-T-A | OR52E8 | c.97A>T | p.Ile33Phe | Missense | 1/1 | - |
12-7281303-G-A | RBP5 | c.69C>T | p.Ala23Ala | Synonymous | 1/4 | - |
4-141386106-T-C | MGAT4D | c.630A>G | p.Leu210Leu | Synonymous | 6/11 | - |
1-152671385-G-A | LCE2A | c.8G>A | p.Cys3Tyr | Missense | 2/2 | - |
3-196865191-G-A | DLG1 | c.884C>T | p.Ala295Val | Missense | 10/26 | - |
6-161022107-C-T | LPA | c.2969G>A | p.Arg990Gln | Missense | 19/39 | - |
6-161022107-C-A | LPA | c.2969G>T | p.Arg990Leu | Missense | 19/39 | - |
2-44170849-T-C | LRPPRC | c.2481A>G | p.Pro827Pro | Synonymous | 23/38 | - |
1-155160813-G-A | MUC1 | c.160-52C>T | - | IntronicSNV | - | 2/7 |
19-58565162-G-A | ZSCAN1 | c.970G>A | p.Glu324Lys | Missense | 6/6 | - |
2-11755256-C-G | GREB1 | c.3162C>G | p.Ser1054Ser | Synonymous | 20/33 | - |
1-109241916-G-C | PRPF38B | c.915G>C | p.Glu305Asp | Missense | 6/6 | - |
18-47566678-C-G | MYO5B | c.145G>C | p.Glu49Gln | Missense | 3/40 | - |
1-153279596-C-T | PGLYRP3 | c.203G>A | p.Arg68Gln | Missense | 2/7 | - |
1-109241916-G-A | PRPF38B | c.915G>A | p.Glu305Glu | Synonymous | 6/6 | - |
1-33475650-T-C | AK2 | c.*3132A>G | - | IntergenicSNV | 6/6 | - |
1-85029489-T-A | CTBS | c.724A>T | p.Ile242Phe | Missense | 5/7 | - |
8-25280706-C-G | GNRH1 | c.141G>C | p.Glu47Asp | Missense | 2/4 | - |
11-1092884-C-T | MUC2 | c.10187C>T | - | missense_variant | 31/51 | - |
1-212180692-T-C | INTS7 | c.656A>G | p.Gln219Arg | Missense | 6/20 | - |
1-155160813-G-C | MUC1 | c.160-52C>G | - | IntronicSNV | - | 2/7 |
9-124461666-C-T | DAB2IP | c.207C>T | p.Asp69Asp | Synonymous | 3/17 | - |
9-124461666-C-G | DAB2IP | c.207C>G | p.Asp69Glu | Missense | 3/17 | - |
9-5924709-T-C | KIAA2026 | c.2635A>G | p.Ile879Val | Missense | 7/8 | - |
20-36641871-G-A | TTI1 | c.348C>T | p.Ser116Ser | Synonymous | 3/9 | - |
16-3349432-T-C | TIGD7 | c.1183A>G | p.Ile395Val | Missense | 2/2 | - |
16-3349432-T-A | TIGD7 | c.1183A>T | p.Ile395Leu | Missense | 2/2 | - |
8-21833926-G-T | XPO7 | c.657G>T | p.Leu219Leu | Synonymous | 7/28 | - |
12-50400300-C-T | RACGAP1 | c.205G>A | p.Asp69Asn | Missense | 5/19 | - |
6-14131854-A-G | CD83 | c.257A>G | p.Asn86Ser | Missense | 3/5 | - |
12-124192207-T-C | TCTN2 | c.2041T>C | p.Leu681Leu | Synonymous | 18/18 | - |
7-5417609-G-T | TNRC18 | c.2199C>A | p.His733Gln | Missense | 6/30 | - |
7-56087365-A-G | PSPH | c.203T>C | p.Leu68Pro | Missense | 5/8 | - |
7-5417609-G-C | TNRC18 | c.2199C>G | p.His733Gln | Missense | 6/30 | - |
2-71827854-G-A | DYSF | c.3725G>A | p.Arg1242His | Missense | 34/55 | - |
16-55719143-G-A | SLC6A2 | c.733G>A | p.Val245Ile | Missense | 4/14 | - |
7-73010754-C-T | MLXIPL | c.1878G>A | p.Leu626Leu | Synonymous | 12/17 | - |
2-109392302-A-G | RANBP2 | c.8407A>G | p.Ile2803Val | Missense | 24/29 | - |
2-168107155-G-A | XIRP2 | c.9253G>A | p.Ala3085Thr | Missense | 9/11 | - |
16-2143865-G-T | PKD1 | c.10765C>A | p.Leu3589Met | Missense | 36/46 | - |
7-100612969-A-G | MUC12 | c.66A>G | p.Pro22Pro | Synonymous | 1/12 | - |
7-100612969-A-T | MUC12 | c.66A>T | p.Pro22Pro | Synonymous | 1/12 | - |
3-10401619-G-A | ATP2B2 | c.1713C>T | p.Pro571Pro | Synonymous | 10/20 | - |
8-124359419-G-A | ATAD2 | c.2125C>T | p.Leu709Leu | Synonymous | 16/28 | - |
12-7015707-G-T | LRRC23 | c.371G>T | p.Arg124Leu | Missense | 4/7 | - |
12-7015707-G-C | LRRC23 | c.371G>C | p.Arg124Pro | Missense | 4/7 | - |
22-46724731-C-G | GTSE1 | c.1871C>G | p.Ala624Gly | Missense | 10/12 | - |
6-43484532-G-A | YIPF3 | c.14C>T | p.Ala5Val | Missense | 1/9 | - |
7-123599845-A-T | SPAM1 | c.1352A>T | p.Asp451Val | Missense | 5/5 | - |
19-56249615-G-A | NLRP9 | c.126C>T | p.Ile42Ile | Synonymous | 1/9 | - |
13-46942355-C-A | RUBCNL | c.648G>T | p.Met216Ile | Missense | 5/15 | - |
12-62946739-A-C | MON2 | c.2995A>C | p.Lys999Gln | Missense | 24/35 | - |
16-85954801-G-A | IRF8 | c.1194G>A | p.Pro398Pro | Synonymous | 9/9 | - |
1-206331156-C-T | CTSE | c.1162C>T | p.Arg388Cys | Missense | 9/9 | - |
11-4406662-G-A | TRIM21 | c.1281C>T | p.Gly427Gly | Synonymous | 7/7 | - |
21-34922173-A-G | SON | c.636A>G | p.Ala212Ala | Synonymous | 3/12 | - |
2-179518003-A-C | TTN | c.31742-735T>G | - | IntronicSNV | - | 155/311 |
3-122103141-C-T | FAM162A | c.29C>T | p.Ala10Val | Missense | 1/5 | - |
1-192627431-G-A | RGS13 | c.228G>A | p.Arg76Arg | Synonymous | 6/7 | - |
1-204412588-T-C | PIK3C2B | c.3005A>G | p.Lys1002Arg | Missense | 20/34 | - |
16-338189-C-T | AXIN1 | c.2522G>A | p.Arg841Gln | Missense | 11/11 | - |
X-17745057-A-T | NHS | c.2768A>T | p.His923Leu | Missense | 6/8 | - |
20-2618182-G-A | TMC2 | c.2448G>A | p.Glu816Glu | Synonymous | 19/20 | - |
5-138732757-A-G | SPATA24 | c.461T>C | p.Val154Ala | Missense | 5/6 | - |
12-20893259-A-G | SLCO1C1 | c.1690A>G | p.Thr564Ala | Missense | 12/15 | - |
5-160042901-C-T | ATP10B | c.2597G>A | p.Arg866Gln | Missense | 17/26 | - |
19-15164439-C-T | CASP14 | c.174C>T | p.Ala58Ala | Synonymous | 3/7 | - |
X-50089734-C-T | CCNB3 | c.3738C>T | p.Ile1246Ile | Synonymous | 10/13 | - |
20-61542239-C-T | DIDO1 | c.726G>A | p.Ala242Ala | Synonymous | 3/6 | - |
1-120054192-G-T | HSD3B1 | c.212G>T | p.Arg71Ile | Missense | 3/4 | - |
2-135744007-T-C | MAP3K19 | c.2435A>G | p.Glu812Gly | Missense | 7/10 | - |
1-120054192-G-A | HSD3B1 | c.212G>A | p.Arg71Lys | Missense | 3/4 | - |
X-134711265-A-T | INTS6L | c.1921A>T | p.Thr641Ser | Missense | 14/17 | - |
19-681478-C-T | FSTL3 | c.651C>T | p.Thr217Thr | Synonymous | 4/5 | - |
1-55464869-G-C | BSND | c.10G>C | p.Glu4Gln | Missense | 1/4 | - |
12-124092033-G-C | DDX55 | c.301G>C | p.Val101Leu | Missense | 4/14 | - |
1-242045283-T-A | EXO1 | c.2175T>A | p.Ser725Ser | Synonymous | 12/14 | - |
2-96943433-G-C | SNRNP200 | c.5775C>G | p.Ala1925Ala | Synonymous | 41/45 | - |
5-44388594-C-A | FGF10 | c.191G>T | p.Gly64Val | Missense | 1/3 | - |
8-100865682-G-T | VPS13B | c.10140G>T | p.Ala3380Ala | Synonymous | 56/62 | - |
8-17849147-C-T | PCM1 | c.4628C>T | p.Thr1543Ile | Missense | 28/39 | - |
17-79993919-C-A | DCXR | c.646G>T | p.Ala216Ser | Missense | 8/8 | - |
1-20829761-A-C | MUL1 | c.162T>G | p.Ile54Met | Missense | 2/4 | - |
13-42872716-A-G | AKAP11 | c.399A>G | p.Ser133Ser | Synonymous | 7/13 | - |
22-50957115-C-T | NCAPH2 | c.684C>T | p.Ser228Ser | Synonymous | 8/20 | - |
11-123894329-C-A | OR10G9 | c.610C>A | p.Leu204Ile | Missense | 1/1 | - |
11-123894329-C-G | OR10G9 | c.610C>G | p.Leu204Val | Missense | 1/1 | - |
20-57613585-G-C | PRELID3B | c.137C>G | p.Ser46Cys | Missense | 2/6 | - |
21-33074633-A-G | SCAF4 | c.381T>C | p.Ile127Ile | Synonymous | 5/20 | - |
19-33467426-C-T | FAAP24 | c.486C>T | p.Thr162Thr | Synonymous | 5/5 | - |
1-179983074-C-T | CEP350 | c.1486C>T | p.Arg496Trp | Missense | 10/38 | - |
5-76342325-A-G | AGGF1 | c.1024A>G | p.Ile342Val | Missense | 6/14 | - |
19-50312801-C-T | FUZ | c.524G>A | p.Gly175Asp | Missense | 6/11 | - |
19-16758065-C-T | SMIM7 | c.220G>A | p.Gly74Ser | Missense | 5/5 | - |
6-34386170-A-C | RPS10 | c.432T>G | p.Ala144Ala | Synonymous | 5/6 | - |
1-228437845-C-T | OBSCN | c.4213C>T | p.Arg1405Trp | Missense | 14/81 | - |
2-25972894-T-G | ASXL2 | c.1531A>C | p.Asn511His | Missense | 12/13 | - |
19-39911625-G-T | PLEKHG2 | c.1436G>T | p.Arg479Leu | Missense | 14/19 | - |
12-53091556-C-T | KRT77 | c.668G>A | p.Arg223Gln | Missense | 2/9 | - |
17-74004347-G-C | EVPL | c.4939C>G | p.Arg1647Gly | Missense | 22/22 | - |
3-184104864-A-G | CHRD | c.2316A>G | p.Pro772Pro | Synonymous | 18/23 | - |
8-100865682-G-A | VPS13B | c.10140G>A | p.Ala3380Ala | Synonymous | 56/62 | - |
16-3819262-G-T | CREBBP | c.2973C>A | p.Asp991Glu | Missense | 15/31 | - |
1-216495246-C-T | USH2A | c.1623G>A | p.Glu541Glu | Synonymous | 9/21 | - |
5-149311840-G-A | PDE6A | c.718-1109C>T | - | IntronicSNV | - | 3/21 |
18-74962810-G-A | GALR1 | c.306G>A | p.Val102Val | Synonymous | 1/3 | - |
16-3819262-G-A | CREBBP | c.2973C>T | p.Asp991Asp | Synonymous | 15/31 | - |
21-43258138-C-T | PRDM15 | c.2004G>A | p.Pro668Pro | Synonymous | 15/31 | - |
12-26774149-T-C | ITPR2 | c.3369A>G | p.Val1123Val | Synonymous | 26/57 | - |
14-57072338-C-T | TMEM260 | c.573C>T | p.His191His | Synonymous | 5/16 | - |
1-170964609-C-T | MROH9 | c.1274C>T | p.Thr425Met | Missense | 13/15 | - |
9-116856199-C-T | KIF12 | c.953G>A | p.Arg318His | Missense | 11/16 | - |
1-100740485-T-C | RTCA | c.618T>C | p.Tyr206Tyr | Synonymous | 7/12 | - |
8-105509700-A-G | LRP12 | c.1080T>C | p.Asn360Asn | Synonymous | 5/7 | - |
16-58074526-G-A | MMP15 | c.834G>A | p.Ala278Ala | Synonymous | 5/10 | - |
4-119273825-T-C | PRSS12 | c.51A>G | p.Glu17Glu | Synonymous | 1/13 | - |
11-123900916-C-T | OR10G8 | c.587C>T | p.Thr196Ile | Missense | 1/1 | - |
10-27322303-C-G | ANKRD26 | c.3655G>C | p.Val1219Leu | Missense | 25/34 | - |
9-128692068-C-T | PBX3 | c.426C>T | p.Leu142Leu | Synonymous | 4/9 | - |
20-62560839-C-T | DNAJC5 | c.282C>T | p.Asn94Asn | Synonymous | 3/5 | - |
1-150418796-C-T | RPRD2 | c.789C>T | p.Asn263Asn | Synonymous | 7/11 | - |
6-36262089-C-T | PNPLA1 | c.342C>T | p.His114His | Synonymous | 4/8 | - |
16-27772821-C-T | KIAA0556 | c.3719C>T | p.Ala1240Val | Missense | 19/28 | - |
1-145075943-C-A | PDE4DIP | c.1-81G>T | - | 5-UTRSNV | 1/7 | - |
X-153296697-G-A | MECP2 | c.582C>T | p.Ser194Ser | Synonymous | 4/4 | - |
20-43118038-C-T | TTPAL | c.885C>T | p.Asp295Asp | Synonymous | 6/6 | - |
9-123782415-T-C | C5 | c.1345A>G | p.Arg449Gly | Missense | 12/41 | - |
11-17418752-C-T | ABCC8 | c.3976G>A | p.Glu1326Lys | Missense | 32/39 | - |
10-27827484-A-G | RAB18 | c.*504A>G | - | 3-UTRSNV | 7/7 | - |
7-48318613-A-G | ABCA13 | c.7822A>G | p.Ile2608Val | Missense | 18/62 | - |
7-48318613-A-C | ABCA13 | c.7822A>C | p.Ile2608Leu | Missense | 18/62 | - |
12-21069049-G-A | SLCO1B3 | c.1977G>A | p.Ser659Ser | Synonymous | 16/16 | - |
2-175431808-G-A | WIPF1 | c.1446C>T | p.Asn482Asn | Synonymous | 7/8 | - |
15-44925740-A-T | SPG11 | c.1698T>A | p.Asp566Glu | Missense | 8/38 | - |
3-124467183-G-T | UMPS | c.*4252G>T | - | 3-UTRSNV | 6/6 | - |
15-44925740-A-C | SPG11 | c.1698T>G | p.Asp566Glu | Missense | 8/38 | - |
20-61444600-C-T | OGFR | c.1633C>T | p.Arg545Cys | Missense | 7/7 | - |
16-47549436-A-G | PHKB | c.518A>G | p.Asn173Ser | Missense | 6/31 | - |
17-7123268-A-G | ACADVL | c.1-36A>G | - | 5-UTRSNV | 1/20 | - |
18-29101156-T-G | DSG2 | c.473T>G | p.Val158Gly | Missense | 5/15 | - |
20-61444600-C-A | OGFR | c.1633C>A | p.Arg545Ser | Missense | 7/7 | - |
3-121973114-C-G | CASR | c.78C>G | p.Ala26Ala | Synonymous | 2/7 | - |
3-121973114-C-A | CASR | c.78C>A | p.Ala26Ala | Synonymous | 2/7 | - |
13-23915089-G-T | SACS | c.2926C>A | p.Arg976Ser | Missense | 10/10 | - |
2-39240646-C-T | SOS1 | c.2122G>A | p.Ala708Thr | Missense | 13/23 | - |
13-23915089-G-A | SACS | c.2926C>T | p.Arg976Cys | Missense | 10/10 | - |
3-154859855-G-A | MME | c.1033G>A | p.Val345Ile | Missense | 11/23 | - |
15-28263554-G-A | OCA2 | c.796C>T | p.Arg266Trp | Missense | 7/24 | - |
11-26584692-C-T | ANO3 | c.1447+3366C>T | - | IntronicSNV | - | 14/26 |
18-21402298-C-A | LAMA3 | c.2387C>A | p.Thr796Asn | Missense | 20/75 | - |
2-11755256-C-T | GREB1 | c.3162C>T | p.Ser1054Ser | Synonymous | 20/33 | - |
16-47703131-T-A | PHKB | c.2433T>A | p.Thr811Thr | Synonymous | 26/31 | - |
12-46591791-C-A | SLC38A1 | c.1175G>T | p.Arg392Leu | Missense | 15/17 | - |
12-46591791-C-T | SLC38A1 | c.1175G>A | p.Arg392His | Missense | 15/17 | - |
7-89933362-G-T | CFAP69 | c.2130G>T | p.Ala710Ala | Synonymous | 18/23 | - |
7-89933362-G-A | CFAP69 | c.2130G>A | p.Ala710Ala | Synonymous | 18/23 | - |
18-10699087-C-G | PIEZO2 | c.6191G>C | p.Arg2064Thr | Missense | 40/52 | - |
1-84945097-G-C | RPF1 | c.133G>C | p.Ala45Pro | Missense | 1/9 | - |
1-149906167-T-G | MTMR11 | c.384A>C | p.Glu128Asp | Missense | 6/17 | - |
17-61574712-G-A | ACE | c.3906G>A | p.Glu1302Glu | Synonymous | 25/25 | - |
17-21207838-G-C | MAP2K3 | c.669G>C | p.Met223Ile | Missense | 8/12 | - |
9-130587560-G-C | ENG | c.766C>G | p.Pro256Ala | Missense | 6/14 | - |
9-130587560-G-A | ENG | c.766C>T | p.Pro256Ser | Missense | 6/14 | - |
22-26423329-T-C | MYO18B | c.7389T>C | p.Gly2463Gly | Synonymous | 43/44 | - |
9-19786015-C-T | SLC24A2 | c.850G>A | p.Val284Ile | Missense | 1/10 | - |
19-56329447-G-T | NLRP11 | c.94C>A | p.Arg32Ser | Missense | 4/12 | - |
3-156763438-A-G | LEKR1 | c.1978A>G | p.Ile660Val | Missense | 13/13 | - |
3-156763438-A-C | LEKR1 | c.1978A>C | p.Ile660Leu | Missense | 13/13 | - |
21-42720579-G-A | FAM3B | c.546G>A | p.Met182Ile | Missense | 7/8 | - |
2-202122956-T-C | CASP8 | c.1-8254T>C | - | IntronicSNV | - | 2/9 |
X-32717258-A-G | DMD | c.802T>C | p.Leu268Leu | Synonymous | 8/79 | - |
X-32717258-A-C | DMD | c.802T>G | p.Leu268Val | Missense | 8/79 | - |
1-207134036-C-T | FCAMR | c.653-894G>A | - | IntronicSNV | - | 5/6 |
4-88537456-C-T | DSPP | c.3642C>T | p.Ser1214Ser | Synonymous | 5/5 | - |
1-158225083-C-T | CD1A | c.268C>T | p.Arg90Cys | Missense | 2/6 | - |
6-135716008-T-C | AHI1 | c.3015A>G | p.Ser1005Ser | Synonymous | 22/28 | - |
1-91404792-T-C | ZNF644 | c.23-21081A>G | - | IntronicSNV | - | 2/3 |
10-17088006-T-G | CUBN | c.3417A>C | p.Leu1139Leu | Synonymous | 24/67 | - |
13-96506633-C-T | UGGT2 | c.4105G>A | p.Gly1369Arg | Missense | 35/39 | - |
1-65860660-T-C | DNAJC6 | c.1983T>C | p.Ser661Ser | Synonymous | 13/19 | - |
20-52788190-G-T | CYP24A1 | c.469C>A | p.Arg157Arg | Synonymous | 3/12 | - |
1-152944534-G-A | SPRR4 | c.168G>A | p.Pro56Pro | Synonymous | 2/2 | - |
8-101717220-C-T | PABPC1 | c.1752G>A | p.Met584Ile | Missense | 13/15 | - |
19-7998386-G-C | TIMM44 | c.753C>G | p.Asn251Lys | Missense | 7/13 | - |
7-3998588-C-T | SDK1 | c.1176C>T | p.Pro392Pro | Synonymous | 8/45 | - |
7-94047050-G-T | COL1A2 | c.1878G>T | p.Val626Val | Synonymous | 32/52 | - |
1-160169695-G-T | CASQ1 | c.1039G>T | p.Gly347* | Nonsense | 10/11 | - |
15-32928808-G-A | ARHGAP11A | c.1834G>A | p.Ala612Thr | Missense | 12/12 | - |
10-70856963-C-G | SRGN | c.203C>G | p.Pro68Arg | Missense | 2/3 | - |
10-70856963-C-T | SRGN | c.203C>T | p.Pro68Leu | Missense | 2/3 | - |
1-235938329-A-C | LYST | c.5518T>G | p.Ser1840Ala | Missense | 18/53 | - |
5-126993282-G-A | CTXN3 | c.69G>A | p.Met23Ile | Missense | 3/3 | - |
5-137257384-A-G | PKD2L2 | c.1388A>G | p.Asn463Ser | Missense | 9/14 | - |
8-6299654-T-C | MCPH1 | c.647T>C | p.Ile216Thr | Missense | 7/14 | - |
5-118832317-A-G | HSD17B4 | c.948A>G | p.Ala316Ala | Synonymous | 12/24 | - |
5-118832317-A-C | HSD17B4 | c.948A>C | p.Ala316Ala | Synonymous | 12/24 | - |
2-46603764-T-A | EPAS1 | c.1121T>A | p.Phe374Tyr | Missense | 9/16 | - |
8-87588248-T-C | CNGB3 | c.2214A>G | p.Glu738Glu | Synonymous | 18/18 | - |
1-237758849-C-T | RYR2 | c.4488C>T | p.Pro1496Pro | Synonymous | 34/105 | - |
2-172341453-G-A | DCAF17 | c.*3829G>A | - | 3-UTRSNV | 14/14 | - |
3-195486123-G-A | MUC4 | c.14858C>T | p.Pro4953Leu | Missense | 17/25 | - |
7-116165220-T-C | CAV1 | c.30+74T>C | - | IntronicSNV | - | 1/2 |
1-43649393-T-C | CFAP57 | c.606T>C | p.Ala202Ala | Synonymous | 4/11 | - |
17-19578921-G-A | ALDH3A2 | c.*36G>A | - | 3-UTRSNV | 10/10 | - |
6-43535018-C-T | XPO5 | c.722G>A | p.Ser241Asn | Missense | 7/32 | - |
13-41834756-G-A | MTRF1 | c.288C>T | p.Ile96Ile | Synonymous | 2/10 | - |
9-2039593-G-C | SMARCA2 | c.483G>C | p.Pro161Pro | Synonymous | 4/34 | - |
14-95085642-C-T | SERPINA3 | c.754C>T | p.Pro252Ser | Missense | 3/5 | - |
8-124138858-G-A | TBC1D31 | c.1815G>A | p.Met605Ile | Missense | 13/22 | - |
14-95085642-C-G | SERPINA3 | c.754C>G | p.Pro252Ala | Missense | 3/5 | - |
5-15937010-C-T | FBXL7 | c.1191C>T | p.Leu397Leu | Synonymous | 4/4 | - |
11-20676319-G-T | SLC6A5 | c.2299G>T | p.Gly767Trp | Missense | 16/16 | - |
7-128450342-A-G | CCDC136 | c.1950A>G | p.Lys650Lys | Synonymous | 12/18 | - |
12-80707293-A-G | OTOGL | c.3461A>G | p.Asp1154Gly | Missense | 30/58 | - |
11-66287196-G-A | BBS1 | c.700G>A | p.Glu234Lys | Missense | 8/17 | - |
14-58917309-A-T | KIAA0586 | c.974A>T | p.Glu325Val | Missense | 8/30 | - |
8-80976799-C-T | TPD52 | c.49G>A | p.Glu17Lys | Missense | 2/6 | - |
1-231155696-G-A | FAM89A | c.468C>T | p.His156His | Synonymous | 2/2 | - |
1-231155696-G-T | FAM89A | c.468C>A | p.His156Gln | Missense | 2/2 | - |
2-179438727-A-G | TTN | c.64428T>C | p.Gly21476Gly | Synonymous | 275/312 | - |
10-105807846-G-C | COL17A1 | c.2244C>G | p.Asp748Glu | Missense | 30/56 | - |
14-58814423-C-A | ARID4A | c.1231C>A | p.His411Asn | Missense | 15/23 | - |
20-34773054-G-C | EPB41L1 | c.582G>C | p.Leu194Leu | Synonymous | 7/22 | - |
20-34773054-G-A | EPB41L1 | c.582G>A | p.Leu194Leu | Synonymous | 7/22 | - |
15-62316035-C-T | VPS13C | c.386-316G>A | - | IntronicSNV | - | 5/82 |
14-58814423-C-G | ARID4A | c.1231C>G | p.His411Asp | Missense | 15/23 | - |
2-179593352-C-T | TTN | c.15569G>A | p.Ser5190Asn | Missense | 63/312 | - |
20-33519196-C-T | GSS | c.1054G>A | p.Ala352Thr | Missense | 11/13 | - |
9-32550912-G-A | TOPORS | c.58C>T | p.Pro20Ser | Missense | 2/3 | - |
19-57330037-C-T | PEG3 | c.703G>A | p.Ala235Thr | Missense | 7/9 | - |
8-101717237-C-T | PABPC1 | c.1735G>A | p.Gly579Ser | Missense | 13/15 | - |
2-219029932-C-T | CXCR1 | c.3G>A | p.Met1Ile | Missense | 2/2 | - |
7-116165166-C-T | CAV1 | c.30+20C>T | - | IntronicSNV | - | 1/2 |
7-116165166-C-G | CAV1 | c.30+20C>G | - | IntronicSNV | - | 1/2 |
14-76644266-C-T | GPATCH2L | c.1053-65C>T | - | IntronicSNV | - | 6/9 |
2-37579971-C-T | QPCT | c.160C>T | p.Arg54Trp | Missense | 2/7 | - |
11-67275063-C-T | CDK2AP2 | c.180G>A | p.Gln60Gln | Synonymous | 2/4 | - |
6-129635800-G-A | LAMA2 | c.3412G>A | p.Val1138Met | Missense | 24/65 | - |
2-100020945-C-T | REV1 | c.3007G>A | p.Ala1003Thr | Missense | 18/23 | - |
11-59211292-C-T | OR5A1 | c.651C>T | p.Leu217Leu | Synonymous | 1/1 | - |
12-7021957-G-T | LRRC23 | c.759-1098G>T | - | IntronicSNV | - | 6/6 |
7-158711439-C-T | WDR60 | c.1800C>T | p.Ala600Ala | Synonymous | 15/25 | - |
22-38120282-C-T | TRIOBP | c.1719C>T | p.Asp573Asp | Synonymous | 7/24 | - |
22-19222154-G-A | CLTCL1 | c.1045C>T | p.Leu349Leu | Synonymous | 7/33 | - |
10-16979593-G-T | CUBN | c.5924C>A | p.Pro1975Gln | Missense | 39/67 | - |
10-115609357-C-A | DCLRE1A | c.1507G>T | p.Ala503Ser | Missense | 2/9 | - |
10-16979593-G-A | CUBN | c.5924C>T | p.Pro1975Leu | Missense | 39/67 | - |
3-197616531-T-C | IQCG | c.1252A>G | p.Met418Val | Missense | 12/12 | - |
10-115609357-C-T | DCLRE1A | c.1507G>A | p.Ala503Thr | Missense | 2/9 | - |
7-133868568-C-T | LRGUK | c.1297C>T | p.Arg433Cys | Missense | 11/20 | - |
11-123894317-G-T | OR10G9 | c.598G>T | p.Val200Leu | Missense | 1/1 | - |
1-33476032-T-C | AK2 | c.*2750A>G | - | IntergenicSNV | 6/6 | - |
3-130452500-C-T | PIK3R4 | c.1342G>A | p.Val448Ile | Missense | 4/20 | - |
3-105404298-C-T | CBLB | c.2067G>A | p.Pro689Pro | Synonymous | 14/19 | - |
1-223949936-G-C | CAPN2 | c.1615G>C | p.Ala539Pro | Missense | 14/21 | - |
12-50385805-T-C | RACGAP1 | c.1690A>G | p.Thr564Ala | Missense | 17/19 | - |
7-100349902-C-G | ZAN | c.2174C>G | p.Thr725Ser | Missense | 14/49 | - |
1-171510055-A-G | PRRC2C | c.3444A>G | p.Ile1148Met | Missense | 16/34 | - |
19-5744499-T-C | CATSPERD | c.635T>C | p.Met212Thr | Missense | 8/22 | - |
19-55693469-C-T | PTPRH | c.2579G>A | p.Arg860Gln | Missense | 17/18 | - |
3-155524015-G-A | C3orf33 | c.-230C>T | - | 5_prime_UTR_variant | 1/6 | - |
2-172338002-T-C | DCAF17 | c.*378T>C | - | 3-UTRSNV | 14/14 | - |
6-38820493-C-A | DNAH8 | c.5490C>A | p.Asp1830Glu | Missense | 40/93 | - |
9-34489437-A-G | DNAI1 | c.378A>G | p.Glu126Glu | Synonymous | 5/20 | - |
2-172339807-C-T | DCAF17 | c.*2183C>T | - | 3-UTRSNV | 14/14 | - |
5-14751181-C-G | ANKH | c.684G>C | p.Leu228Leu | Synonymous | 5/12 | - |
5-14751181-C-T | ANKH | c.684G>A | p.Leu228Leu | Synonymous | 5/12 | - |
2-119699906-C-G | MARCO | c.30C>G | p.Asp10Glu | Missense | 1/17 | - |
2-119699906-C-A | MARCO | c.30C>A | p.Asp10Glu | Missense | 1/17 | - |
2-119699906-C-T | MARCO | c.30C>T | p.Asp10Asp | Synonymous | 1/17 | - |
10-100167396-G-A | PYROXD2 | c.258C>T | p.Arg86Arg | Synonymous | 4/16 | - |
12-4652968-C-T | RAD51AP1 | c.107C>T | p.Ser36Phe | Missense | 3/9 | - |
2-99949559-T-C | TXNDC9 | c.115A>G | p.Met39Val | Missense | 2/5 | - |
19-37005808-A-G | ZNF260 | c.333T>C | p.Tyr111Tyr | Synonymous | 4/4 | - |
11-62984850-G-A | SLC22A25 | c.766C>T | p.Arg256* | Nonsense | 4/9 | - |
11-111365984-T-C | BTG4 | c.566A>G | p.Asn189Ser | Missense | 5/6 | - |
6-46107962-C-A | ENPP4 | c.642C>A | p.Ile214Ile | Synonymous | 2/4 | - |
17-38029310-G-T | ZPBP2 | c.573G>T | p.Ala191Ala | Synonymous | 5/7 | - |
8-71646544-T-A | XKR9 | c.1007T>A | p.Leu336His | Missense | 5/5 | - |
7-48315473-C-T | ABCA13 | c.6210C>T | p.Thr2070Thr | Synonymous | 17/62 | - |
8-113299353-A-G | CSMD3 | c.8764T>C | p.Ser2922Pro | Missense | 56/69 | - |
9-123215959-C-T | CDK5RAP2 | c.2568G>A | p.Gln856Gln | Synonymous | 21/38 | - |
8-104948947-C-T | RIMS2 | c.2544C>T | p.Gly848Gly | Synonymous | 13/24 | - |
8-17541957-C-T | MTUS1 | c.2718G>A | p.Thr906Thr | Synonymous | 7/15 | - |
18-9887586-G-A | TXNDC2 | c.909G>A | p.Lys303Lys | Synonymous | 2/2 | - |
2-73799632-C-G | ALMS1 | c.10631C>G | - | missense_variant | 16/23 | - |
2-172339807-C-G | DCAF17 | c.*2183C>G | - | 3-UTRSNV | 14/14 | - |
19-50412760-G-A | IL4I1 | c.-227-5182C>T | - | intron_variant | - | 2/9 |
10-50340070-T-A | FAM170B | c.440A>T | p.Gln147Leu | Missense | 2/2 | - |
16-46652209-A-C | SHCBP1 | c.179T>G | p.Met60Arg | Missense | 2/13 | - |
2-88478458-C-T | THNSL2 | c.728C>T | p.Thr243Met | Missense | 4/8 | - |
1-26317266-T-C | PAFAH2 | c.42A>G | p.Gly14Gly | Synonymous | 2/11 | - |
2-190531615-T-C | ASNSD1 | c.757T>C | p.Leu253Leu | Synonymous | 4/6 | - |
1-233231571-T-C | PCNX2 | c.3876A>G | p.Thr1292Thr | Synonymous | 22/34 | - |
9-95152276-A-G | CENPP | c.564+10135A>G | - | IntronicSNV | - | 5/7 |
1-200818980-C-G | CAMSAP2 | c.3083C>G | p.Pro1028Arg | Missense | 11/17 | - |
6-39877617-A-G | MOCS1 | c.1064T>C | p.Ile355Thr | Missense | 8/10 | - |
12-106820975-C-T | POLR3B | c.1102C>T | p.Leu368Phe | Missense | 13/28 | - |
16-2112558-G-A | TSC2 | c.1318G>A | p.Gly440Ser | Missense | 13/42 | - |
18-10672782-T-A | PIEZO2 | c.7911A>T | p.Gly2637Gly | Synonymous | 51/52 | - |
2-169985338-C-T | LRP2 | c.13803G>A | p.Met4601Ile | Missense | 79/79 | - |
15-89382129-C-A | ACAN | c.306C>A | p.Asp102Glu | Missense | 3/16 | - |
12-52966437-C-T | KRT74 | c.486G>A | p.Glu162Glu | Synonymous | 2/9 | - |
2-196749421-C-T | DNAH7 | c.5651G>A | p.Arg1884Gln | Missense | 35/65 | - |
22-29440848-C-T | ZNRF3 | c.714C>T | p.Val238Val | Synonymous | 5/9 | - |
8-124664368-C-T | KLHL38 | c.799G>A | p.Val267Ile | Missense | 2/4 | - |
1-156851382-G-C | NTRK1 | c.2339G>C | p.Arg780Pro | Missense | 17/17 | - |
16-4733253-C-A | MGRN1 | c.1445C>A | p.Ser482* | Nonsense | 14/16 | - |
16-27373872-A-C | IL4R | c.1199A>C | p.Glu400Ala | Missense | 11/11 | - |
16-4733253-C-T | MGRN1 | c.1445C>T | p.Ser482Leu | Missense | 14/16 | - |
1-246729251-C-T | TFB2M | c.190G>A | p.Ala64Thr | Missense | 1/8 | - |
2-32740295-C-G | BIRC6 | c.10807C>G | p.Leu3603Val | Missense | 55/74 | - |
13-103401480-T-C | CCDC168 | c.1567A>G | p.Asn523Asp | Missense | 4/4 | - |
15-48779530-G-A | FBN1 | c.3442C>T | p.Pro1148Ser | Missense | 28/66 | - |
3-10255215-G-A | IRAK2 | c.771G>A | p.Glu257Glu | Synonymous | 6/13 | - |
14-76644266-C-A | GPATCH2L | c.1053-65C>A | - | IntronicSNV | - | 6/9 |
2-31602841-G-A | XDH | c.1134C>T | p.Gly378Gly | Synonymous | 13/36 | - |
8-74893452-A-G | TMEM70 | c.379A>G | p.Thr127Ala | Missense | 3/3 | - |
1-205548956-G-A | MFSD4A | c.308G>A | p.Arg103His | Missense | 2/10 | - |
X-153171406-G-A | AVPR2 | c.446G>A | p.Arg149His | Missense | 3/4 | - |
3-148919972-T-C | CP | c.1265A>G | p.Lys422Arg | Missense | 7/19 | - |
5-176863227-T-A | GRK6 | c.1211T>A | p.Val404Asp | Missense | 12/16 | - |
4-187208860-G-A | F11 | c.1599G>A | p.Gln533Gln | Synonymous | 14/15 | - |
7-140453136-A-G | BRAF | c.1799T>C | p.Val600Ala | Missense | 15/18 | - |
6-44197456-A-G | SLC29A1 | c.242A>G | p.Asn81Ser | Missense | 5/14 | - |
5-79026434-G-A | CMYA5 | c.1846G>A | p.Val616Ile | Missense | 2/13 | - |
8-104336788-C-G | FZD6 | c.454C>G | p.Gln152Glu | Missense | 4/7 | - |
19-52824977-C-G | ZNF480 | c.474C>G | p.Ile158Met | Missense | 5/5 | - |
10-52573698-G-A | A1CF | c.1242C>T | p.Leu414Leu | Synonymous | 10/13 | - |
3-124826596-C-A | SLC12A8 | c.1434G>T | p.Arg478Ser | Missense | 10/14 | - |
11-106810558-A-G | GUCY1A2 | c.834T>C | p.Ser278Ser | Synonymous | 4/9 | - |
4-183812579-G-A | DCTD | c.543C>T | p.Asn181Asn | Synonymous | 6/6 | - |
12-70949014-G-T | PTPRB | c.5069C>A | p.Thr1690Asn | Missense | 20/34 | - |
4-155505888-G-T | FGA | c.1989C>A | p.Cys663* | Nonsense | 6/6 | - |
10-70405541-A-G | TET1 | c.3055A>G | p.Lys1019Glu | Missense | 4/12 | - |
1-157789820-G-A | FCRL1 | c.8C>T | p.Pro3Leu | Missense | 1/11 | - |
1-85029489-T-C | CTBS | c.724A>G | p.Ile242Val | Missense | 5/7 | - |
6-44197456-A-C | SLC29A1 | c.242A>C | p.Asn81Thr | Missense | 5/14 | - |
7-5417609-G-A | TNRC18 | c.2199C>T | p.His733His | Synonymous | 6/30 | - |
8-142200405-G-A | DENND3 | c.3028G>A | p.Asp1010Asn | Missense | 19/23 | - |
5-137892222-G-A | HSPA9 | c.1881C>T | p.Ser627Ser | Synonymous | 16/17 | - |
15-34543180-C-G | SLC12A6 | c.1259G>C | p.Ser420Thr | Missense | 10/25 | - |
17-36483847-G-C | GPR179 | c.5605C>G | p.Gln1869Glu | Missense | 11/11 | - |
5-137892222-G-C | HSPA9 | c.1881C>G | p.Ser627Arg | Missense | 16/17 | - |
4-71347422-G-A | MUC7 | c.961G>A | p.Asp321Asn | Missense | 3/3 | - |
10-32751965-T-C | CCDC7 | c.498T>C | p.Asn166Asn | Synonymous | 6/18 | - |
1-203766964-A-G | ZBED6 | c.314A>G | p.Asn105Ser | Missense | 1/1 | - |
7-113519433-T-C | PPP1R3A | c.1714A>G | p.Ile572Val | Missense | 4/4 | - |
7-113518498-C-A | PPP1R3A | c.2649G>T | p.Arg883Ser | Missense | 4/4 | - |
20-35796576-G-A | MROH8 | c.597C>T | p.Asn199Asn | Synonymous | 5/25 | - |
8-96264436-C-T | C8orf37 | c.450G>A | p.Ser150Ser | Synonymous | 5/6 | - |
8-36694394-C-T | KCNU1 | c.1449C>T | p.Ile483Ile | Synonymous | 14/27 | - |
1-203766964-A-C | ZBED6 | c.314A>C | p.Asn105Thr | Missense | 1/1 | - |
21-46319069-T-C | ITGB2 | c.906A>G | p.Pro302Pro | Synonymous | 8/16 | - |
3-186952027-G-C | MASP1 | c.1304-4342C>G | - | IntronicSNV | - | 10/15 |
3-186952027-G-A | MASP1 | c.1304-4342C>T | - | IntronicSNV | - | 10/15 |
1-202104616-T-A | ARL8A | c.411A>T | p.Ala137Ala | Synonymous | 5/7 | - |
1-202104616-T-C | ARL8A | c.411A>G | p.Ala137Ala | Synonymous | 5/7 | - |
3-121415714-C-T | GOLGB1 | c.3641G>A | p.Arg1214His | Missense | 13/22 | - |
11-1017186-A-G | MUC6 | c.5615T>C | p.Met1872Thr | Missense | 31/33 | - |
11-59629083-T-C | TCN1 | c.473A>G | p.Asn158Ser | Missense | 4/9 | - |
5-136973012-C-T | KLHL3 | c.1196G>A | p.Arg399Gln | Missense | 11/15 | - |
4-122068316-T-G | TNIP3 | c.623A>C | p.Glu208Ala | Missense | 7/11 | - |
9-2039593-G-A | SMARCA2 | c.483G>A | p.Pro161Pro | Synonymous | 4/34 | - |
3-127783877-C-T | SEC61A1 | c.774C>T | p.Phe258Phe | Synonymous | 8/12 | - |
18-9886874-A-T | TXNDC2 | c.197A>T | p.Asp66Val | Missense | 2/2 | - |
8-25174610-C-T | DOCK5 | c.1406C>T | p.Thr469Met | Missense | 14/52 | - |
8-145086736-T-C | SPATC1 | c.53T>C | p.Val18Ala | Missense | 1/5 | - |
8-113702131-A-G | CSMD3 | c.1809T>C | p.Asn603Asn | Synonymous | 13/69 | - |
6-43307645-G-A | ZNF318 | c.4091C>T | p.Ser1364Leu | Missense | 10/10 | - |
7-23299648-C-G | GPNMB | c.591C>G | p.Asn197Lys | Missense | 5/11 | - |
7-23299648-C-T | GPNMB | c.591C>T | p.Asn197Asn | Synonymous | 5/11 | - |
3-121415714-C-G | GOLGB1 | c.3641G>C | p.Arg1214Pro | Missense | 13/22 | - |
11-1017186-A-T | MUC6 | c.5615T>A | p.Met1872Lys | Missense | 31/33 | - |
4-118005568-T-G | TRAM1L1 | c.982A>C | p.Asn328His | Missense | 1/1 | - |
4-118005568-T-C | TRAM1L1 | c.982A>G | p.Asn328Asp | Missense | 1/1 | - |
9-2039593-G-T | SMARCA2 | c.483G>T | p.Pro161Pro | Synonymous | 4/34 | - |
2-73118508-C-T | SPR | c.628C>T | p.Arg210Trp | Missense | 3/3 | - |
8-133764161-G-A | TMEM71 | c.184C>T | p.Arg62Cys | Missense | 4/10 | - |
8-10464616-G-A | RP1L1 | c.6992C>T | p.Thr2331Met | Missense | 4/4 | - |
19-12920935-G-A | RNASEH2A | c.462G>A | p.Gln154Gln | Synonymous | 5/8 | - |
6-151257985-C-T | MTHFD1L | c.1302C>T | p.Ile434Ile | Synonymous | 12/28 | - |
1-46497918-C-T | MAST2 | c.3256C>T | p.Arg1086Trp | Missense | 25/29 | - |
19-38028508-C-A | ZNF793 | c.948C>A | p.Cys316* | Nonsense | 8/8 | - |
19-38028508-C-T | ZNF793 | c.948C>T | p.Cys316Cys | Synonymous | 8/8 | - |
9-140005147-G-T | DPP7 | c.1432C>A | p.Arg478Ser | Missense | 13/13 | - |
7-134632314-G-A | CALD1 | c.1588G>A | p.Val530Met | Missense | 8/15 | - |
9-135140020-A-G | SETX | c.7640T>C | p.Ile2547Thr | Missense | 26/26 | - |
8-118552178-C-T | MED30 | c.498C>T | p.Leu166Leu | Synonymous | 4/4 | - |
2-99271976-T-C | MGAT4A | c.706A>G | p.Thr236Ala | Missense | 8/16 | - |
11-108277861-C-T | C11orf65 | c.190G>A | p.Ala64Thr | Missense | 4/9 | - |
1-205548956-G-T | MFSD4A | c.308G>T | p.Arg103Leu | Missense | 2/10 | - |
8-86388036-G-A | CA2 | c.454G>A | p.Ala152Thr | Missense | 5/7 | - |
8-86388036-G-C | CA2 | c.454G>C | p.Ala152Pro | Missense | 5/7 | - |
1-190234126-T-C | BRINP3 | c.487A>G | p.Ser163Gly | Missense | 4/8 | - |
4-55524168-T-C | KIT | c.1-14T>C | - | 5-UTRSNV | 1/21 | - |
4-55524168-T-A | KIT | c.1-14T>A | - | 5-UTRSNV | 1/21 | - |
1-179989584-G-C | CEP350 | c.2675G>C | p.Arg892Thr | Missense | 12/38 | - |
3-195510659-T-C | MUC4 | c.7792A>G | p.Thr2598Ala | Missense | 2/25 | - |
13-103525620-G-A | ERCC5 | c.2891G>A | p.Arg964Gln | Missense | 14/15 | - |
1-45795084-G-A | MUTYH | c.1535C>T | p.Ser512Phe | Missense | 16/16 | - |
7-31008686-G-A | GHRHR | c.169G>A | p.Ala57Thr | Missense | 3/13 | - |
2-1500456-C-T | TPO | c.2305C>T | p.Arg769Trp | Missense | 13/17 | - |
1-228431034-A-G | OBSCN | c.3080A>G | p.Lys1027Arg | Missense | 10/81 | - |
9-107566930-C-A | ABCA1 | c.4536G>T | p.Thr1512Thr | Synonymous | 32/50 | - |
12-120527791-G-A | BICDL1 | c.1476G>A | p.Arg492Arg | Synonymous | 8/9 | - |
7-150027763-A-G | LRRC61 | c.1-6188A>G | - | IntronicSNV | - | 1/1 |
4-17841394-G-C | NCAPG | c.2562G>C | p.Leu854Phe | Missense | 17/21 | - |
12-81101767-C-A | MYF6 | c.269C>A | p.Ala90Asp | Missense | 1/3 | - |
12-81101767-C-T | MYF6 | c.269C>T | p.Ala90Val | Missense | 1/3 | - |
1-76210251-C-G | ACADM | c.600-1240C>G | - | IntronicSNV | - | 7/11 |
22-18912677-C-T | PRODH | c.554G>A | p.Trp185* | Nonsense | 5/15 | - |
2-168115710-T-G | XIRP2 | c.*1383T>G | - | 3_prime_UTR_variant | 11/11 | - |
5-13867949-T-C | DNAH5 | c.3987A>G | p.Lys1329Lys | Synonymous | 25/79 | - |
8-61765560-G-C | CHD7 | c.6276G>C | p.Glu2092Asp | Missense | 31/38 | - |
9-107566930-C-T | ABCA1 | c.4536G>A | p.Thr1512Thr | Synonymous | 32/50 | - |
7-105621500-T-G | CDHR3 | c.336T>G | p.Gly112Gly | Synonymous | 3/19 | - |
20-56082726-C-T | CTCFL | c.1674+936G>A | - | IntronicSNV | - | 10/11 |
18-21469993-C-T | LAMA3 | c.495C>T | p.Phe165Phe | Synonymous | 5/38 | - |
20-55111364-A-C | FAM209B | c.386A>C | p.Glu129Ala | Missense | 2/2 | - |
1-45795084-G-C | MUTYH | c.1535C>G | p.Ser512Cys | Missense | 16/16 | - |
7-142658565-G-C | KEL | c.105C>G | p.Pro35Pro | Synonymous | 3/19 | - |
9-139405181-G-A | NOTCH1 | c.2664C>T | p.His888His | Synonymous | 17/34 | - |
5-115822489-G-A | SEMA6A | c.918C>T | p.Asn306Asn | Synonymous | 10/19 | - |
4-140624656-T-C | MGST2 | c.277T>C | p.Tyr93His | Missense | 4/5 | - |
1-10190575-G-C | UBE4B | c.1326G>C | p.Leu442Phe | Missense | 12/27 | - |
14-50649223-A-G | SOS2 | c.816T>C | p.Ser272Ser | Synonymous | 6/23 | - |
19-44661139-T-C | ZNF234 | c.970T>C | p.Cys324Arg | Missense | 6/6 | - |
2-152584322-C-T | NEB | c.177G>A | p.Gln59Gln | Synonymous | 5/150 | - |
14-20811843-A-G | PARP2 | c.43A>G | p.Arg15Gly | Missense | 1/16 | - |
9-140002875-C-T | MAN1B1 | c.1932C>T | p.Val644Val | Synonymous | 13/13 | - |
9-140002875-C-A | MAN1B1 | c.1932C>A | p.Val644Val | Synonymous | 13/13 | - |
13-79190219-A-C | RNF219 | c.1677T>G | p.Phe559Leu | Missense | 6/6 | - |
6-56857235-G-A | BEND6 | c.180G>A | p.Glu60Glu | Synonymous | 3/7 | - |
2-27801739-T-C | C2orf16 | c.2300T>C | p.Ile767Thr | Missense | 1/1 | - |
X-53453272-C-T | RIBC1 | c.48C>T | p.Ile16Ile | Synonymous | 3/5 | - |
11-22647099-G-T | FANCF | c.258C>A | p.Leu86Leu | Synonymous | 1/1 | - |
5-163446-G-C | PLEKHG4B | c.3259G>C | - | missense_variant | 13/20 | - |
11-22647099-G-A | FANCF | c.258C>T | p.Leu86Leu | Synonymous | 1/1 | - |
14-65241867-G-A | SPTB | c.4818C>T | p.Tyr1606Tyr | Synonymous | 22/35 | - |
5-163446-G-A | PLEKHG4B | c.3259G>A | - | missense_variant | 13/20 | - |
17-40010829-C-T | KLHL11 | c.1290G>A | p.Leu430Leu | Synonymous | 2/2 | - |
12-51319200-G-A | METTL7A | c.379G>A | p.Gly127Arg | Missense | 1/2 | - |
1-223283837-T-C | TLR5 | c.2537A>G | p.Asp846Gly | Missense | 6/6 | - |
1-25944741-T-C | MAN1C1 | c.453T>C | p.Arg151Arg | Synonymous | 1/12 | - |
19-30191246-C-A | C19orf12 | c.*2373G>T | - | 3-UTRSNV | 3/3 | - |
7-95221879-T-C | PDK4 | c.560A>G | p.Asn187Ser | Missense | 5/11 | - |
7-95221879-T-A | PDK4 | c.560A>T | p.Asn187Ile | Missense | 5/11 | - |
1-158906871-A-G | PYHIN1 | c.171A>G | p.Pro57Pro | Synonymous | 2/9 | - |
8-100182333-G-C | VPS13B | c.2275G>C | p.Val759Leu | Missense | 16/62 | - |
2-44161960-T-C | LRPPRC | c.2562A>G | p.Val854Val | Synonymous | 24/38 | - |
12-21428307-G-A | SLCO1A2 | c.1662C>T | p.Cys554Cys | Synonymous | 12/14 | - |
3-129155451-C-T | MBD4 | c.1036G>A | p.Glu346Lys | Missense | 3/8 | - |
9-114341136-C-T | PTGR1 | c.591G>A | p.Glu197Glu | Synonymous | 7/10 | - |
2-71740958-T-C | DYSF | c.570T>C | p.Pro190Pro | Synonymous | 6/55 | - |
8-99101976-A-C | ERICH5 | c.731A>C | p.Gln244Pro | Missense | 2/3 | - |
11-27389739-T-C | LGR4 | c.2531A>G | p.Asp844Gly | Missense | 18/18 | - |
6-70639473-A-C | COL19A1 | c.547A>C | p.Ile183Leu | Missense | 6/51 | - |
2-74592668-G-A | DCTN1 | c.3003C>T | p.Thr1001Thr | Synonymous | 25/32 | - |
5-171621214-A-C | EFCAB9 | c.38A>C | p.Tyr13Ser | Missense | 1/4 | - |
5-171621214-A-G | EFCAB9 | c.38A>G | p.Tyr13Cys | Missense | 1/4 | - |
2-168104988-G-A | XIRP2 | c.7086G>A | p.Met2362Ile | Missense | 9/11 | - |
15-79606191-C-T | TMED3 | c.261C>T | p.Ser87Ser | Synonymous | 2/3 | - |
6-36936606-T-C | MTCH1 | c.*73A>G | - | 3-UTRSNV | 12/12 | - |
3-151017912-G-A | GPR87 | c.1-24C>T | - | 5-UTRSNV | 2/3 | - |
4-187524464-G-A | FAT1 | c.11216C>T | p.Ala3739Val | Missense | 19/27 | - |
7-107420206-G-T | SLC26A3 | c.1314C>A | p.Ser438Ser | Synonymous | 12/21 | - |
7-92825188-C-T | HEPACAM2 | c.1192G>A | p.Gly398Arg | Missense | 7/9 | - |
2-118705758-G-A | CCDC93 | c.1147C>T | p.Leu383Leu | Synonymous | 15/24 | - |
12-7015707-G-A | LRRC23 | c.371G>A | p.Arg124Gln | Missense | 4/7 | - |
15-102359203-G-C | OR4F15 | c.814G>C | p.Ala272Pro | Missense | 1/1 | - |
1-224001963-G-T | TP53BP2 | c.268C>A | p.Arg90Ser | Missense | 3/18 | - |
2-74077556-G-T | STAMBP | c.921G>T | p.Gly307Gly | Synonymous | 8/11 | - |
1-224001963-G-A | TP53BP2 | c.268C>T | p.Arg90Cys | Missense | 3/18 | - |
2-179498303-T-A | TTN | c.35079A>T | p.Lys11693Asn | Missense | 181/312 | - |
10-27687638-C-T | PTCHD3 | c.1889G>A | p.Arg630Gln | Missense | 4/4 | - |
16-2140972-G-C | PKD1 | c.11913C>G | p.Arg3971Arg | Synonymous | 43/46 | - |
6-46107962-C-T | ENPP4 | c.642C>T | p.Ile214Ile | Synonymous | 2/4 | - |
3-191098660-A-G | CCDC50 | c.653A>G | p.Lys218Arg | Missense | 8/11 | - |
3-130114082-C-G | COL6A5 | c.3342C>G | p.Ile1114Met | Missense | 8/40 | - |
7-142658565-G-A | KEL | c.105C>T | p.Pro35Pro | Synonymous | 3/19 | - |
13-79911336-T-G | RBM26 | c.2553A>C | p.Arg851Arg | Synonymous | 18/21 | - |
10-6553040-C-T | PRKCQ | c.235G>A | p.Val79Met | Missense | 3/18 | - |
16-10989219-C-T | CIITA | c.133C>T | p.Leu45Leu | Synonymous | 2/20 | - |
1-179599985-C-T | TDRD5 | c.1056C>T | p.Leu352Leu | Synonymous | 7/17 | - |
16-10989219-C-A | CIITA | c.133C>A | p.Leu45Met | Missense | 2/20 | - |
16-10989219-C-G | CIITA | c.133C>G | p.Leu45Val | Missense | 2/20 | - |
10-101294851-G-T | NKX2-3 | c.468G>T | p.Ser156Ser | Synonymous | 2/2 | - |
20-2377204-C-T | TGM6 | c.477C>T | p.Ser159Ser | Synonymous | 4/13 | - |
20-2377204-C-A | TGM6 | c.477C>A | p.Ser159Arg | Missense | 4/13 | - |
2-179458002-G-A | TTN | c.51229C>T | p.Leu17077Leu | Synonymous | 248/312 | - |
14-75515693-C-T | MLH3 | c.666G>A | p.Lys222Lys | Synonymous | 2/12 | - |
2-109388273-A-G | RANBP2 | c.7966A>G | p.Thr2656Ala | Missense | 21/29 | - |
19-56249615-G-C | NLRP9 | c.126C>G | p.Ile42Met | Missense | 1/9 | - |
9-738434-C-T | KANK1 | c.3483C>T | p.Asn1161Asn | Synonymous | 8/12 | - |
1-244528053-G-A | C1orf100 | c.51G>A | p.Pro17Pro | Synonymous | 2/5 | - |
18-21438686-C-T | LAMA3 | c.4315C>T | p.Arg1439* | Nonsense | 34/75 | - |
20-43836997-G-A | SEMG1 | c.1059G>A | p.Thr353Thr | Synonymous | 2/3 | - |
9-71532547-G-A | PIP5K1B | c.855G>A | p.Glu285Glu | Synonymous | 9/16 | - |
11-126147590-T-C | FOXRED1 | c.*6T>C | - | 3-UTRSNV | 11/11 | - |
11-1092926-C-G | MUC2 | c.10229C>G | - | missense_variant | 31/51 | - |
4-103537662-G-C | NFKB1 | c.2821G>C | p.Glu941Gln | Missense | 24/24 | - |
11-62288014-G-A | AHNAK | c.342+14461C>T | - | IntronicSNV | - | 4/5 |
1-45799121-G-A | MUTYH | c.303C>T | p.Tyr101Tyr | Synonymous | 3/16 | - |
12-32369288-G-A | BICD1 | c.321G>A | p.Gly107Gly | Synonymous | 2/10 | - |
12-86198935-C-T | RASSF9 | c.853G>A | p.Ala285Thr | Missense | 2/2 | - |
20-44596158-G-A | ZNF335 | c.930C>T | p.Asp310Asp | Synonymous | 6/28 | - |
7-138417791-A-G | ATP6V0A4 | c.1739T>C | p.Met580Thr | Missense | 17/22 | - |
7-102462549-G-A | FBXL13 | c.1956C>T | p.Asp652Asp | Synonymous | 19/20 | - |
9-8636765-C-T | PTPRD | c.144G>A | p.Thr48Thr | Synonymous | 2/30 | - |
9-129870510-G-A | ANGPTL2 | c.501C>T | p.Ala167Ala | Synonymous | 2/5 | - |
2-179632496-T-C | TTN | c.9461A>G | p.Lys3154Arg | Missense | 40/312 | - |
9-113192279-A-G | SVEP1 | c.5536T>C | p.Ser1846Pro | Missense | 34/48 | - |
2-17697635-T-C | RAD51AP2 | c.2048A>G | p.Glu683Gly | Missense | 1/3 | - |
8-100844858-C-A | VPS13B | c.9667C>A | p.Arg3223Arg | Synonymous | 52/62 | - |
1-248309159-C-A | OR2M5 | c.710C>A | p.Ala237Asp | Missense | 1/1 | - |
8-33369551-C-G | TTI2 | c.581G>C | p.Gly194Ala | Missense | 1/7 | - |
11-6415690-G-A | SMPD1 | c.1749G>A | p.Ser583Ser | Synonymous | 6/6 | - |
2-238287288-C-A | COL6A3 | c.2488G>T | p.Ala830Ser | Missense | 6/44 | - |
5-160042901-C-G | ATP10B | c.2597G>C | p.Arg866Pro | Missense | 17/26 | - |
11-6415690-G-T | SMPD1 | c.1749G>T | p.Ser583Ser | Synonymous | 6/6 | - |
4-66231686-C-T | EPHA5 | c.2014G>A | p.Ala672Thr | Missense | 11/18 | - |
4-66231686-C-A | EPHA5 | c.2014G>T | p.Ala672Ser | Missense | 11/18 | - |
19-56329447-G-A | NLRP11 | c.94C>T | p.Arg32Cys | Missense | 4/12 | - |
16-67691194-C-T | CARMIL2 | c.4170C>T | p.Leu1390Leu | Synonymous | 37/38 | - |
8-103238260-G-A | RRM2B | c.423C>T | p.Val141Val | Synonymous | 3/9 | - |
19-12155697-A-G | ZNF878 | c.519T>C | p.Cys173Cys | Synonymous | 4/4 | - |
2-152317669-G-A | RIF1 | c.3093G>A | p.Ser1031Ser | Synonymous | 27/35 | - |
3-169572694-C-T | LRRC31 | c.898G>A | p.Glu300Lys | Missense | 6/9 | - |
4-79366891-G-A | FRAS1 | c.5881G>A | p.Val1961Ile | Missense | 42/42 | - |
6-90425390-G-A | MDN1 | c.6842C>T | p.Thr2281Ile | Missense | 45/102 | - |
7-76908153-C-T | CCDC146 | c.1525C>T | p.Arg509Trp | Missense | 12/19 | - |
10-105807846-G-A | COL17A1 | c.2244C>T | p.Asp748Asp | Synonymous | 30/56 | - |
11-1016654-T-A | MUC6 | c.6147A>T | p.Pro2049Pro | Synonymous | 31/33 | - |
11-1016654-T-C | MUC6 | c.6147A>G | p.Pro2049Pro | Synonymous | 31/33 | - |
7-98741441-A-C | SMURF1 | c.1-38T>G | - | 5-UTRSNV | 1/19 | - |
7-98741441-A-G | SMURF1 | c.1-38T>C | - | 5-UTRSNV | 1/19 | - |
9-139371562-G-A | SEC16A | c.506C>T | p.Thr169Met | Missense | 3/32 | - |
8-110592151-A-G | SYBU | c.608T>C | p.Leu203Pro | Missense | 7/9 | - |
2-169869901-A-G | ABCB11 | c.270T>C | p.Phe90Phe | Synonymous | 5/28 | - |
19-5733908-G-C | CATSPERD | c.318G>C | p.Ser106Ser | Synonymous | 5/22 | - |
15-68583172-C-G | FEM1B | c.1476C>G | p.Val492Val | Synonymous | 2/2 | - |
1-92789824-C-G | RPAP2 | c.1347C>G | p.Tyr449* | Nonsense | 8/13 | - |
8-116616408-A-G | TRPS1 | c.1788T>C | p.Tyr596Tyr | Synonymous | 4/7 | - |
6-27420048-G-A | ZNF184 | c.1290C>T | p.His430His | Synonymous | 6/6 | - |
1-175049405-C-T | TNN | c.891C>T | p.Pro297Pro | Synonymous | 4/19 | - |
3-23848835-A-C | UBE2E1 | c.75A>C | p.Glu25Asp | Missense | 2/6 | - |
1-175049405-C-G | TNN | c.891C>G | p.Pro297Pro | Synonymous | 4/19 | - |
1-175049405-C-A | TNN | c.891C>A | p.Pro297Pro | Synonymous | 4/19 | - |
14-51259494-G-A | NIN | c.371C>T | p.Thr124Met | Missense | 5/30 | - |
3-23848835-A-T | UBE2E1 | c.75A>T | p.Glu25Asp | Missense | 2/6 | - |
1-184702019-G-A | EDEM3 | c.564C>T | p.Tyr188Tyr | Synonymous | 6/20 | - |
12-100897216-C-A | NR1H4 | c.80-7340C>A | - | IntronicSNV | - | 3/10 |
12-100897216-C-T | NR1H4 | c.80-7340C>T | - | IntronicSNV | - | 3/10 |
7-139734069-C-A | PARP12 | c.1387G>T | p.Val463Leu | Missense | 8/12 | - |
14-45711535-T-G | MIS18BP1 | c.845A>C | p.Asn282Thr | Missense | 4/17 | - |
11-70034026-G-A | ANO1 | c.2877G>A | p.Pro959Pro | Synonymous | 26/26 | - |
20-60768573-C-A | MTG2 | c.97C>A | p.Arg33Arg | Synonymous | 2/7 | - |
21-37418174-C-T | SETD4 | c.432G>A | p.Glu144Glu | Synonymous | 6/12 | - |
13-79190219-A-G | RNF219 | c.1677T>C | p.Phe559Phe | Synonymous | 6/6 | - |
17-10265714-T-C | MYH13 | c.311A>G | p.Tyr104Cys | Missense | 4/41 | - |
9-99581916-C-T | ZNF782 | c.389G>A | p.Arg130His | Missense | 6/6 | - |
9-99581916-C-G | ZNF782 | c.389G>C | p.Arg130Pro | Missense | 6/6 | - |
4-187539323-C-T | FAT1 | c.8417G>A | p.Ser2806Asn | Missense | 10/27 | - |
19-30191246-C-T | C19orf12 | c.*2373G>A | - | 3-UTRSNV | 3/3 | - |
20-2618182-G-T | TMC2 | c.2448G>T | p.Glu816Asp | Missense | 19/20 | - |
9-332451-G-A | DOCK8 | c.1098G>A | p.Thr366Thr | Synonymous | 10/48 | - |
5-156671437-G-T | ITK | c.1398G>T | p.Val466Val | Synonymous | 13/17 | - |
17-67111594-G-A | ABCA6 | c.1529C>T | p.Thr510Met | Missense | 12/39 | - |
1-43675539-G-A | CFAP57 | c.1881G>A | p.Leu627Leu | Synonymous | 11/11 | - |
2-233721525-G-A | GIGYF2 | c.3855G>A | p.Ser1285Ser | Synonymous | 29/29 | - |
2-172585298-T-C | DYNC1I2 | c.1329T>C | p.Asp443Asp | Synonymous | 14/18 | - |
20-58467393-A-G | SYCP2 | c.2016T>C | p.Tyr672Tyr | Synonymous | 24/45 | - |
10-15649710-G-A | ITGA8 | c.1730C>T | p.Ser577Phe | Missense | 17/30 | - |
1-192780657-C-T | RGS2 | c.567C>T | p.Phe189Phe | Synonymous | 5/5 | - |
1-180199727-T-C | LHX4 | c.63T>C | p.Gly21Gly | Synonymous | 1/6 | - |
13-77570078-T-G | CLN5 | c.528T>G | p.Thr176Thr | Synonymous | 3/4 | - |
3-195510659-T-G | MUC4 | c.7792A>C | p.Thr2598Pro | Missense | 2/25 | - |
X-140993990-C-T | MAGEC1 | c.800C>T | p.Ser267Phe | Missense | 4/4 | - |
20-62599227-C-T | ZNF512B | c.77G>A | p.Arg26Gln | Missense | 2/17 | - |
3-194134535-T-C | ATP13A3 | c.3436A>G | p.Met1146Val | Missense | 31/32 | - |
3-169485639-C-T | ACTRT3 | c.700G>A | p.Glu234Lys | Missense | 2/2 | - |
22-44031042-T-C | EFCAB6 | c.2038A>G | p.Thr680Ala | Missense | 18/32 | - |
20-62127296-C-T | EEF1A2 | c.237G>A | p.Lys79Lys | Synonymous | 3/8 | - |
5-158743788-C-A | IL12B | c.892G>T | p.Val298Phe | Missense | 7/8 | - |
1-207782769-G-A | CR1 | c.4681G>A | p.Val1561Met | Missense | 29/39 | - |
2-241513695-G-A | RNPEPL1 | c.1104G>A | p.Thr368Thr | Synonymous | 5/11 | - |
2-241513695-G-C | RNPEPL1 | c.1104G>C | p.Thr368Thr | Synonymous | 5/11 | - |
1-226027548-C-T | EPHX1 | c.741C>T | p.His247His | Synonymous | 6/9 | - |
18-9122591-T-C | NDUFV2 | c.381T>C | p.Val127Val | Synonymous | 5/8 | - |
21-32410582-C-T | KRTAP19-8 | c.181G>A | p.Ala61Thr | Missense | 1/1 | - |
2-20234122-C-A | LAPTM4A | c.583G>T | p.Val195Leu | Missense | 6/7 | - |
2-20234122-C-T | LAPTM4A | c.583G>A | p.Val195Met | Missense | 6/7 | - |
1-243493891-A-G | SDCCAG8 | c.1118A>G | p.Glu373Gly | Missense | 10/18 | - |
17-61655938-C-T | DCAF7 | c.246C>T | p.Gly82Gly | Synonymous | 2/8 | - |
9-137642654-G-A | COL5A1 | c.1588G>A | p.Gly530Ser | Missense | 13/66 | - |
1-201288982-C-A | PKP1 | c.1271C>A | p.Pro424Gln | Missense | 7/15 | - |
7-114332234-A-T | FOXP2 | c.*2253A>T | - | 3-UTRSNV | 17/17 | - |
19-38230877-G-A | ZNF573 | c.340C>T | p.Arg114Cys | Missense | 8/8 | - |
3-186504407-A-G | EIF4A2 | c.744A>G | p.Lys248Lys | Synonymous | 7/11 | - |
1-248308934-C-T | OR2M5 | c.485C>T | p.Ala162Val | Missense | 1/1 | - |
1-248308934-C-A | OR2M5 | c.485C>A | p.Ala162Glu | Missense | 1/1 | - |
1-248224618-C-T | OR2L3 | c.635C>T | p.Ala212Val | Missense | 1/1 | - |
6-163149361-C-T | PACRG | c.94C>T | p.His32Tyr | Missense | 2/7 | - |
1-245851289-G-T | KIF26B | c.5004G>T | p.Ser1668Ser | Synonymous | 12/15 | - |
8-17883104-G-A | PCM1 | c.5986G>A | p.Gly1996Ser | Missense | 38/39 | - |
8-17883104-G-C | PCM1 | c.5986G>C | p.Gly1996Arg | Missense | 38/39 | - |
11-56380774-C-T | OR5M1 | c.205G>A | p.Val69Ile | Missense | 1/1 | - |
11-56380774-C-A | OR5M1 | c.205G>T | p.Val69Leu | Missense | 1/1 | - |
3-112991397-A-C | BOC | c.808A>C | p.Ser270Arg | Missense | 7/20 | - |
2-43814095-G-T | THADA | c.349C>A | p.Arg117Ser | Missense | 5/38 | - |
2-44099435-A-T | ABCG8 | c.1201A>T | p.Thr401Ser | Missense | 8/13 | - |
8-144994212-A-T | PLEC | c.9858T>A | p.Ser3286Ser | Synonymous | 33/33 | - |
2-202245423-A-T | TRAK2 | c.2588T>A | p.Ile863Asn | Missense | 16/16 | - |
6-51612999-C-A | PKHD1 | c.9415G>T | p.Asp3139Tyr | Missense | 58/67 | - |
5-115338958-G-A | LVRN | c.1918G>A | p.Val640Ile | Missense | 12/20 | - |
7-114270033-A-G | FOXP2 | c.570A>G | p.Gln190Gln | Synonymous | 5/17 | - |
10-104359297-G-T | SUFU | c.1018G>T | p.Ala340Ser | Missense | 8/12 | - |
1-226827315-C-T | ITPKB | c.2496G>A | p.Thr832Thr | Synonymous | 6/8 | - |
9-98011497-G-A | FANCC | c.77C>T | p.Ser26Phe | Missense | 2/15 | - |
21-47575470-G-A | FTCD | c.1-33C>T | - | 5-UTRSNV | 1/15 | - |
1-204985634-G-A | NFASC | c.3690G>A | p.Thr1230Thr | Synonymous | 30/30 | - |
9-138678253-G-T | KCNT1 | c.3388G>T | p.Ala1130Ser | Missense | 29/31 | - |
10-3181107-G-A | PITRM1 | c.2909C>T | p.Pro970Leu | Missense | 25/27 | - |
15-42742620-G-C | ZNF106 | c.1781C>G | p.Thr594Arg | Missense | 2/19 | - |
3-41278119-C-A | CTNNB1 | c.1995C>A | p.Asp665Glu | Missense | 13/16 | - |
6-134210600-G-T | TCF21 | c.65G>T | p.Gly22Val | Missense | 1/3 | - |
6-134210600-G-A | TCF21 | c.65G>A | p.Gly22Glu | Missense | 1/3 | - |
1-169510367-T-C | F5 | c.3961A>G | p.Ile1321Val | Missense | 13/25 | - |
2-168103863-G-A | XIRP2 | c.5961G>A | p.Ala1987Ala | Synonymous | 9/11 | - |
2-168103863-G-T | XIRP2 | c.5961G>T | p.Ala1987Ala | Synonymous | 9/11 | - |
9-140611308-C-G | EHMT1 | c.316C>G | p.Gln106Glu | Missense | 3/27 | - |
1-169510367-T-G | F5 | c.3961A>C | p.Ile1321Leu | Missense | 13/25 | - |
12-6219682-G-A | VWF | c.390C>T | p.Ser130Ser | Synonymous | 5/52 | - |
3-105404298-C-G | CBLB | c.2067G>C | p.Pro689Pro | Synonymous | 14/19 | - |
1-156514261-G-A | IQGAP3 | c.2308C>T | p.His770Tyr | Missense | 20/38 | - |
12-20905279-G-T | SLCO1C1 | c.1956G>T | p.Val652Val | Synonymous | 15/15 | - |
2-71351612-G-C | MCEE | c.102C>G | p.Pro34Pro | Synonymous | 2/3 | - |
12-46320421-G-A | SCAF11 | c.3063C>T | p.Pro1021Pro | Synonymous | 11/15 | - |
21-47572887-C-T | FTCD | c.301G>A | p.Val101Met | Missense | 3/15 | - |
9-2828690-G-T | PUM3 | c.941C>A | p.Thr314Asn | Missense | 9/18 | - |
11-68213989-C-G | LRP5 | c.4574C>G | p.Ala1525Gly | Missense | 22/23 | - |
22-30640765-G-C | LIF | c.177C>G | p.Ala59Ala | Synonymous | 2/3 | - |
4-101982305-C-G | PPP3CA | c.1095G>C | p.Leu365Leu | Synonymous | 10/14 | - |
4-101982305-C-A | PPP3CA | c.1095G>T | p.Leu365Leu | Synonymous | 10/14 | - |
1-100340782-G-A | AGL | c.1155G>A | p.Lys385Lys | Synonymous | 9/34 | - |
1-228437845-C-G | OBSCN | c.4213C>G | p.Arg1405Gly | Missense | 14/81 | - |
18-46904937-T-C | DYM | c.421A>G | p.Ser141Gly | Missense | 5/17 | - |
11-1093272-A-C | MUC2 | c.12507A>C | - | synonymous_variant | 32/51 | - |
1-55464869-G-T | BSND | c.10G>T | p.Glu4* | Nonsense | 1/4 | - |
3-151012541-C-T | GPR87 | c.493G>A | p.Val165Ile | Missense | 3/3 | - |
8-143623459-G-T | ADGRB1 | c.3864G>T | p.Leu1288Leu | Synonymous | 28/31 | - |
6-114378789-T-G | HS3ST5 | c.673A>C | p.Lys225Gln | Missense | 2/2 | - |
3-180334458-C-G | CCDC39 | c.2432G>C | p.Arg811Pro | Missense | 18/20 | - |
3-180334458-C-T | CCDC39 | c.2432G>A | p.Arg811His | Missense | 18/20 | - |
3-157146149-G-T | VEPH1 | c.658C>A | p.Arg220Arg | Synonymous | 5/14 | - |
9-114341136-C-G | PTGR1 | c.591G>C | p.Glu197Asp | Missense | 7/10 | - |
5-140810773-G-A | PCDHGA12 | c.447G>A | p.Glu149Glu | Synonymous | 1/4 | - |
1-228492220-C-T | OBSCN | c.11660-1853C>T | - | IntronicSNV | - | 43/80 |
7-106938643-T-C | COG5 | c.1350A>G | p.Leu450Leu | Synonymous | 12/21 | - |
2-166773796-T-C | TTC21B | c.1870A>G | p.Ile624Val | Missense | 14/29 | - |
5-36962301-G-A | NIPBL | c.535G>A | p.Ala179Thr | Missense | 6/46 | - |
5-79026187-A-G | CMYA5 | c.1599A>G | p.Glu533Glu | Synonymous | 2/13 | - |
13-101020733-G-A | PCCA | c.1651G>A | p.Val551Ile | Missense | 19/24 | - |
8-125107150-G-C | FER1L6 | c.4566G>C | p.Glu1522Asp | Missense | 35/41 | - |
3-157146149-G-A | VEPH1 | c.658C>T | p.Arg220Trp | Missense | 5/14 | - |
1-46497918-C-G | MAST2 | c.3256C>G | p.Arg1086Gly | Missense | 25/29 | - |
1-43394958-C-T | SLC2A1 | c.895G>A | p.Glu299Lys | Missense | 7/10 | - |
15-64452308-G-A | PPIB | c.338C>T | p.Thr113Ile | Missense | 3/5 | - |
18-21469993-C-G | LAMA3 | c.495C>G | p.Phe165Leu | Missense | 5/38 | - |
18-224131-G-A | THOC1 | c.1257C>T | p.Pro419Pro | Synonymous | 16/21 | - |
2-29754824-C-T | ALK | c.1111G>A | p.Ala371Thr | Missense | 4/29 | - |
5-7892933-A-G | MTRR | c.1464A>G | p.Val488Val | Synonymous | 11/15 | - |
7-27140497-C-A | HOXA2 | c.979G>T | p.Val327Phe | Missense | 2/2 | - |
11-10647995-G-A | MRVI1 | c.862C>T | p.Leu288Phe | Missense | 8/20 | - |
15-99514335-A-G | PGPEP1L | c.74T>C | p.Leu25Pro | Missense | 3/5 | - |
10-28228926-C-G | ARMC4 | c.1997G>C | p.Arg666Pro | Missense | 14/20 | - |
10-28228926-C-T | ARMC4 | c.1997G>A | p.Arg666Gln | Missense | 14/20 | - |
2-179633644-G-C | TTN | c.8919C>G | p.Ser2973Ser | Synonymous | 38/312 | - |
6-119341191-G-T | FAM184A | c.1284C>A | p.Thr428Thr | Synonymous | 4/18 | - |
6-119341191-G-A | FAM184A | c.1284C>T | p.Thr428Thr | Synonymous | 4/18 | - |
1-248262987-C-T | OR2L13 | c.310C>T | p.Leu104Leu | Synonymous | 3/3 | - |
3-33868104-C-T | PDCD6IP | c.717+32C>T | - | IntronicSNV | - | 6/17 |
7-7561580-T-A | COL28A1 | c.715A>T | p.Ile239Phe | Missense | 5/35 | - |
8-99054018-G-A | RPL30 | c.*11C>T | - | 3-UTRSNV | 5/5 | - |
7-43506113-A-C | HECW1 | c.2859A>C | p.Pro953Pro | Synonymous | 15/30 | - |
7-43506113-A-T | HECW1 | c.2859A>T | p.Pro953Pro | Synonymous | 15/30 | - |
21-38308774-C-T | HLCS | c.971G>A | p.Arg324His | Missense | 5/12 | - |
6-97711214-C-T | MMS22L | c.939G>A | p.Ser313Ser | Synonymous | 9/25 | - |
5-36171756-A-G | SKP2 | c.822A>G | p.Val274Val | Synonymous | 7/10 | - |
2-31602791-T-A | XDH | c.1184A>T | p.Lys395Met | Missense | 13/36 | - |
2-31602791-T-C | XDH | c.1184A>G | p.Lys395Arg | Missense | 13/36 | - |
7-56022689-G-A | MRPS17 | c.211G>A | p.Val71Ile | Missense | 3/3 | - |
2-99006129-C-T | CNGA3 | c.458C>T | p.Thr153Met | Missense | 6/8 | - |
21-38308774-C-A | HLCS | c.971G>T | p.Arg324Leu | Missense | 5/12 | - |
6-90450026-T-A | MDN1 | c.4520A>T | p.Glu1507Val | Missense | 32/102 | - |
3-1339584-G-A | CNTN6 | c.670G>A | p.Glu224Lys | Missense | 7/23 | - |
19-15273335-C-T | NOTCH3 | c.5854G>A | p.Val1952Met | Missense | 32/33 | - |
3-148597614-G-A | CPA3 | c.514G>A | p.Asp172Asn | Missense | 6/11 | - |
19-53303332-C-T | ZNF28 | c.1766G>A | p.Arg589Gln | Missense | 4/4 | - |
16-162783-G-A | NPRL3 | c.1-153C>T | - | IntronicSNV | 2/12 | - |
12-7647768-G-A | CD163 | c.1329C>T | p.Asn443Asn | Synonymous | 6/17 | - |
1-233231571-T-A | PCNX2 | c.3876A>T | p.Thr1292Thr | Synonymous | 22/34 | - |
1-228476366-G-T | OBSCN | c.10116G>T | p.Glu3372Asp | Missense | 38/81 | - |
11-129775599-C-T | PRDM10 | c.3201G>A | p.Gln1067Gln | Synonymous | 20/21 | - |
17-46474118-G-T | SKAP1 | c.76C>A | p.Arg26Arg | Synonymous | 2/13 | - |
9-131394469-G-A | SPTAN1 | c.6811G>A | p.Ala2271Thr | Missense | 52/56 | - |
2-233127979-T-C | DIS3L2 | c.1488T>C | p.His496His | Synonymous | 13/21 | - |
5-147204192-G-A | SPINK1 | c.*32C>T | - | 3-UTRSNV | 5/5 | - |
5-78532606-A-C | JMY | c.133A>C | p.Thr45Pro | Missense | 1/11 | - |
9-22006147-C-T | CDKN2B | c.256G>A | p.Asp86Asn | Missense | 2/2 | - |
9-22006147-C-A | CDKN2B | c.256G>T | p.Asp86Tyr | Missense | 2/2 | - |
2-168107491-A-G | XIRP2 | c.9589A>G | p.Ile3197Val | Missense | 9/11 | - |
22-22842518-G-A | ZNF280B | c.1206C>T | p.Pro402Pro | Synonymous | 4/4 | - |
2-168107491-A-T | XIRP2 | c.9589A>T | p.Ile3197Phe | Missense | 9/11 | - |
7-128454863-C-T | CCDC136 | c.2935C>T | p.Arg979Trp | Missense | 15/18 | - |
16-72830539-C-G | ZFHX3 | c.6042G>C | p.Gln2014His | Missense | 9/10 | - |
5-7889216-G-A | MTRR | c.1155G>A | p.Leu385Leu | Synonymous | 9/15 | - |
16-72830539-C-A | ZFHX3 | c.6042G>T | p.Gln2014His | Missense | 9/10 | - |
X-118145853-G-A | LONRF3 | c.1605G>A | p.Glu535Glu | Synonymous | 7/10 | - |
7-31011677-C-T | GHRHR | c.564C>T | p.His188His | Synonymous | 6/13 | - |
13-84454391-T-A | SLITRK1 | c.1252A>T | p.Thr418Ser | Missense | 1/1 | - |
3-184049090-G-T | EIF4G1 | c.4201G>T | p.Gly1401Trp | Missense | 28/32 | - |
5-112312580-T-C | DCP2 | c.1-51T>C | - | 5-UTRSNV | 1/11 | - |
22-50962514-G-C | SCO2 | c.327C>G | p.His109Gln | Missense | 2/2 | - |
22-50962514-G-A | SCO2 | c.327C>T | p.His109His | Synonymous | 2/2 | - |
6-44394257-G-A | CDC5L | c.1689G>A | p.Pro563Pro | Synonymous | 13/16 | - |
16-47294546-C-T | ITFG1 | c.1131G>A | p.Ala377Ala | Synonymous | 11/18 | - |
10-17130199-G-C | CUBN | c.1911C>G | p.Leu637Leu | Synonymous | 15/67 | - |
10-17130199-G-A | CUBN | c.1911C>T | p.Leu637Leu | Synonymous | 15/67 | - |
X-118239017-C-A | KIAA1210 | c.1006G>T | p.Asp336Tyr | Missense | 7/14 | - |
19-42343084-A-G | LYPD4 | c.82T>C | p.Leu28Leu | Synonymous | 3/5 | - |
8-17541957-C-A | MTUS1 | c.2718G>T | p.Thr906Thr | Synonymous | 7/15 | - |
11-134226278-C-T | GLB1L2 | c.642C>T | p.Tyr214Tyr | Synonymous | 6/20 | - |
9-5534924-C-G | PDCD1LG2 | c.235C>G | p.Gln79Glu | Missense | 3/7 | - |
20-47587799-G-C | ARFGEF2 | c.1333G>C | p.Val445Leu | Missense | 10/39 | - |
18-47788424-C-G | CFAP53 | c.235G>C | p.Val79Leu | Missense | 2/8 | - |
17-56405046-C-T | TSPOAP1 | c.236G>A | p.Gly79Glu | Missense | 1/32 | - |
10-79784331-C-T | POLR3A | c.621G>A | p.Val207Val | Synonymous | 5/31 | - |
7-143826865-C-T | OR2A14 | c.660C>T | p.Ile220Ile | Synonymous | 1/1 | - |
3-151150568-G-A | MED12L | c.6414G>A | p.Pro2138Pro | Synonymous | 43/43 | - |
8-101717195-G-C | PABPC1 | c.1777C>G | p.Leu593Val | Missense | 13/15 | - |
8-27454686-T-C | CLU | c.*1072A>G | - | 3-UTRSNV | 9/9 | - |
18-47788424-C-T | CFAP53 | c.235G>A | p.Val79Met | Missense | 2/8 | - |
3-180705871-C-T | DNAJC19 | c.69G>A | p.Leu23Leu | Synonymous | 3/6 | - |
9-123779781-C-T | C5 | c.1725G>A | p.Leu575Leu | Synonymous | 14/41 | - |
8-145138063-G-A | GPAA1 | c.111G>A | p.Leu37Leu | Synonymous | 2/12 | - |
10-105840422-T-C | COL17A1 | c.10A>G | p.Thr4Ala | Missense | 2/56 | - |
2-15607826-C-T | NBAS | c.1980G>A | p.Lys660Lys | Synonymous | 18/52 | - |
4-48082095-C-T | TXK | c.1007G>A | p.Arg336Gln | Missense | 11/15 | - |
10-55582636-T-C | PCDH15 | c.4850A>G | p.Asn1617Ser | Missense | 33/33 | - |
1-31347320-G-C | SDC3 | c.986C>G | p.Thr329Arg | Missense | 4/5 | - |
16-3534831-C-G | NAA60 | c.705C>G | p.Gly235Gly | Synonymous | 6/7 | - |
12-50821551-G-T | LARP4 | c.25G>T | p.Ala9Ser | Missense | 2/16 | - |
12-50821551-G-A | LARP4 | c.25G>A | p.Ala9Thr | Missense | 2/16 | - |
2-20175312-G-A | WDR35 | c.549C>T | p.Tyr183Tyr | Synonymous | 6/27 | - |
17-48606082-G-A | MYCBPAP | c.2434G>A | - | missense_variant | 17/19 | - |
2-118732831-G-A | CCDC93 | c.683C>T | p.Pro228Leu | Missense | 9/24 | - |
8-119936669-A-G | TNFRSF11B | c.1150T>C | p.Leu384Leu | Synonymous | 5/5 | - |
8-119936669-A-C | TNFRSF11B | c.1150T>G | p.Leu384Val | Missense | 5/5 | - |
16-2821525-G-A | ELOB | c.*466C>T | - | 3-UTRSNV | 4/4 | - |
8-87588198-T-C | CNGB3 | c.2264A>G | p.Glu755Gly | Missense | 18/18 | - |
16-12798778-C-T | CPPED1 | c.418G>A | p.Glu140Lys | Missense | 3/4 | - |
1-223933094-C-T | CAPN2 | c.513C>T | p.Ala171Ala | Synonymous | 4/21 | - |
17-42849660-G-A | ADAM11 | c.569G>A | p.Arg190Gln | Missense | 7/27 | - |
20-35852309-G-A | RPN2 | c.1121G>A | p.Gly374Asp | Missense | 10/17 | - |
6-152751278-G-T | SYNE1 | c.4757C>A | p.Thr1586Lys | Missense | 36/146 | - |
6-152751278-G-A | SYNE1 | c.4757C>T | p.Thr1586Ile | Missense | 36/146 | - |
19-45810010-A-G | CKM | c.1144T>C | - | Missense | 8/8 | - |
7-25175885-T-C | C7orf31 | c.1479A>G | p.Lys493Lys | Synonymous | 10/10 | - |
2-227661214-G-A | IRS1 | c.2241C>T | p.Ser747Ser | Synonymous | 1/2 | - |
20-62599227-C-A | ZNF512B | c.77G>T | p.Arg26Leu | Missense | 2/17 | - |
19-12874383-C-A | HOOK2 | c.1969G>T | p.Glu657* | Nonsense | 22/23 | - |
1-156851382-G-A | NTRK1 | c.2339G>A | p.Arg780Gln | Missense | 17/17 | - |
19-12874383-C-T | HOOK2 | c.1969G>A | p.Glu657Lys | Missense | 22/23 | - |
20-34828459-T-C | AAR2 | c.669T>C | p.Ala223Ala | Synonymous | 2/4 | - |
11-19955194-G-C | NAV2 | c.1404G>C | p.Gln468His | Missense | 7/38 | - |
16-69355040-A-G | VPS4A | c.938A>G | p.Asn313Ser | Missense | 9/11 | - |
8-121290743-A-G | COL14A1 | c.3407A>G | p.Lys1136Arg | Missense | 28/48 | - |
7-99145927-T-C | FAM200A | c.104A>G | p.His35Arg | Missense | 2/2 | - |
8-72973909-C-T | TRPA1 | c.895G>A | p.Val299Met | Missense | 7/27 | - |
11-123909099-G-T | OR10G7 | c.610C>A | p.Leu204Ile | Missense | 1/1 | - |
11-123909099-G-C | OR10G7 | c.610C>G | p.Leu204Val | Missense | 1/1 | - |
8-105263928-C-T | RIMS2 | c.3930C>T | p.Ile1310Ile | Synonymous | 24/24 | - |
8-125580755-C-T | MTSS1 | c.483G>A | p.Gln161Gln | Synonymous | 7/14 | - |
1-182874667-T-G | SHCBP1L | c.1300A>C | p.Asn434His | Missense | 7/10 | - |
9-139405154-G-A | NOTCH1 | c.2691C>T | p.Ala897Ala | Synonymous | 17/34 | - |
8-133764161-G-C | TMEM71 | c.184C>G | p.Arg62Gly | Missense | 4/10 | - |
5-139938237-C-T | APBB3 | c.1415G>A | p.Arg472Gln | Missense | 13/13 | - |
6-136600949-G-T | BCLAF1 | c.56C>A | p.Ser19Tyr | Missense | 3/13 | - |
6-136600949-G-A | BCLAF1 | c.56C>T | p.Ser19Phe | Missense | 3/13 | - |
19-56373462-G-C | NLRP4 | c.2123G>C | p.Arg708Pro | Missense | 5/10 | - |
16-89795660-A-G | ZNF276 | c.878A>G | p.Asp293Gly | Missense | 6/11 | - |
20-43851375-G-C | SEMG2 | c.1102G>C | p.Gly368Arg | Missense | 2/3 | - |
2-152385739-G-A | NEB | c.16617C>T | p.Tyr5539Tyr | Synonymous | 119/150 | - |
1-119575687-C-T | WARS2 | c.930G>A | p.Val310Val | Synonymous | 6/6 | - |
18-31319905-A-G | ASXL3 | c.2537A>G | p.Lys846Arg | Missense | 11/12 | - |
9-19786217-G-A | SLC24A2 | c.648C>T | p.Ile216Ile | Synonymous | 1/10 | - |
1-151377407-A-T | POGZ | c.3945T>A | p.Thr1315Thr | Synonymous | 17/17 | - |
7-56087374-C-T | PSPH | c.194G>A | p.Arg65His | Missense | 5/8 | - |
18-76886325-A-T | ATP9B | c.617A>T | p.Gln206Leu | Missense | 5/30 | - |
9-19786217-G-T | SLC24A2 | c.648C>A | p.Ile216Ile | Synonymous | 1/10 | - |
17-79256084-T-G | SLC38A10 | c.406A>C | p.Ile136Leu | Missense | 5/14 | - |
17-79256084-T-C | SLC38A10 | c.406A>G | p.Ile136Val | Missense | 5/14 | - |
10-115343057-G-C | HABP2 | c.1177G>C | p.Glu393Gln | Missense | 10/13 | - |
16-2140972-G-A | PKD1 | c.11913C>T | p.Arg3971Arg | Synonymous | 43/46 | - |
1-36181847-C-T | C1orf216 | c.76G>A | p.Glu26Lys | Missense | 2/2 | - |
4-110757287-G-A | RRH | c.522G>A | p.Thr174Thr | Synonymous | 4/7 | - |
8-100479817-C-T | VPS13B | c.3621C>T | p.Leu1207Leu | Synonymous | 24/62 | - |
3-128627887-G-A | ACAD9 | c.1430G>A | p.Arg477Gln | Missense | 14/18 | - |
9-115598610-A-G | SNX30 | c.735A>G | p.Ile245Met | Missense | 5/9 | - |
14-57072338-C-A | TMEM260 | c.573C>A | p.His191Gln | Missense | 5/16 | - |
9-125140732-C-T | PTGS1 | c.232C>T | p.Arg78Trp | Missense | 4/11 | - |
9-130117725-C-T | GARNL3 | c.1909C>T | p.Pro637Ser | Missense | 20/28 | - |
19-38028579-G-A | ZNF793 | c.1019G>A | p.Arg340His | Missense | 8/8 | - |
1-100575974-T-C | SASS6 | c.735A>G | p.Gln245Gln | Synonymous | 8/17 | - |
18-74962810-G-T | GALR1 | c.306G>T | p.Val102Val | Synonymous | 1/3 | - |
X-140993991-T-A | MAGEC1 | c.801T>A | p.Ser267Ser | Synonymous | 4/4 | - |
9-4849515-T-C | RCL1 | c.936T>C | p.Val312Val | Synonymous | 8/9 | - |
15-33916136-G-A | RYR3 | c.2486G>A | p.Arg829His | Missense | 20/104 | - |
15-33916136-G-T | RYR3 | c.2486G>T | p.Arg829Leu | Missense | 20/104 | - |
9-139848341-G-A | LCN12 | c.373G>A | p.Asp125Asn | Missense | 4/6 | - |
6-117642457-G-A | ROS1 | c.5742C>T | p.Ala1914Ala | Synonymous | 35/43 | - |
17-10265714-T-G | MYH13 | c.311A>C | p.Tyr104Ser | Missense | 4/41 | - |
1-37947336-G-A | ZC3H12A | c.718G>A | p.Val240Met | Missense | 4/6 | - |
10-101591866-G-A | ABCC2 | c.3236G>A | p.Arg1079Gln | Missense | 23/32 | - |
6-43587991-G-A | POLH | c.*5697G>A | - | 3-UTRSNV | 11/11 | - |
1-93720153-G-T | CCDC18 | c.3324G>T | p.Arg1108Ser | Missense | 24/28 | - |
9-134016059-G-A | NUP214 | c.1256G>A | p.Arg419Gln | Missense | 11/36 | - |
1-157545384-T-C | FCRL4 | c.1478A>G | p.Tyr493Cys | Missense | 12/12 | - |
16-22330203-G-A | POLR3E | c.922G>A | p.Val308Met | Missense | 13/21 | - |
8-139144914-G-A | FAM135B | c.4143C>T | p.Ala1381Ala | Synonymous | 20/20 | - |
9-138678253-G-A | KCNT1 | c.3388G>A | p.Ala1130Thr | Missense | 29/31 | - |
19-17173563-G-C | HAUS8 | c.174C>G | p.Thr58Thr | Synonymous | 4/11 | - |
10-104359297-G-C | SUFU | c.1018G>C | p.Ala340Pro | Missense | 8/12 | - |
4-107279479-G-T | GIMD1 | c.515C>A | p.Thr172Lys | Missense | 2/2 | - |
17-39191013-C-A | KRTAP1-3 | c.61G>T | p.Gly21Cys | Missense | 1/1 | - |
7-111981015-C-T | ZNF277 | c.1098C>T | p.Phe366Phe | Synonymous | 11/12 | - |
16-70303659-C-T | AARS | c.824G>A | p.Gly275Asp | Missense | 7/21 | - |
5-94842651-C-T | TTC37 | c.3079G>A | p.Gly1027Ser | Missense | 30/43 | - |
17-73487533-C-T | TMEM94 | c.1383C>T | p.Pro461Pro | Synonymous | 13/32 | - |
5-94842651-C-A | TTC37 | c.3079G>T | p.Gly1027Cys | Missense | 30/43 | - |
11-2683177-C-T | KCNQ1 | c.1394-14C>T | - | IntronicSNV | - | 10/15 |
15-43086885-T-C | TTBK2 | c.937A>G | p.Thr313Ala | Missense | 10/15 | - |
9-123782415-T-A | C5 | c.1345A>T | p.Arg449Trp | Missense | 12/41 | - |
3-113753937-G-A | CCDC191 | c.653C>T | p.Thr218Ile | Missense | 6/17 | - |
1-211433420-T-A | RCOR3 | c.1-38T>A | - | 5-UTRSNV | 1/11 | - |
5-32000315-G-A | PDZD2 | c.1192G>A | p.Glu398Lys | Missense | 5/25 | - |
5-32000315-G-C | PDZD2 | c.1192G>C | p.Glu398Gln | Missense | 5/25 | - |
1-211433420-T-C | RCOR3 | c.1-38T>C | - | 5-UTRSNV | 1/11 | - |
1-223283881-T-C | TLR5 | c.2493A>G | p.Lys831Lys | Synonymous | 6/6 | - |
6-76602282-G-A | MYO6 | c.2982G>A | p.Glu994Glu | Synonymous | 28/35 | - |
2-43452502-G-C | ZFP36L2 | c.441C>G | p.Ser147Ser | Synonymous | 2/2 | - |
1-220162004-C-G | EPRS | c.2703G>C | p.Ala901Ala | Synonymous | 19/32 | - |
10-118231328-A-G | PNLIPRP3 | c.1109A>G | p.Gln370Arg | Missense | 10/12 | - |
7-23235483-A-G | NUPL2 | c.471A>G | p.Glu157Glu | Synonymous | 4/7 | - |
5-140784895-C-T | PCDHGB4 | c.2397+15047C>T | - | IntronicSNV | - | 1/3 |
1-228467711-G-A | OBSCN | c.7586G>A | p.Arg2529Gln | Missense | 28/81 | - |
1-100340782-G-T | AGL | c.1155G>T | p.Lys385Asn | Missense | 9/34 | - |
7-87060844-C-T | ABCB4 | c.1769G>A | p.Arg590Gln | Missense | 15/28 | - |
5-55202007-T-C | IL31RA | c.1143T>C | p.Ala381Ala | Synonymous | 9/15 | - |
9-102677589-T-C | STX17 | c.68T>C | p.Ile23Thr | Missense | 2/8 | - |
18-5396324-G-T | EPB41L3 | c.2849C>A | p.Thr950Lys | Missense | 19/23 | - |
9-105767702-T-C | CYLC2 | c.789T>C | p.Asp263Asp | Synonymous | 5/8 | - |
18-5396324-G-A | EPB41L3 | c.2849C>T | p.Thr950Met | Missense | 19/23 | - |
7-23235483-A-T | NUPL2 | c.471A>T | p.Glu157Asp | Missense | 4/7 | - |
14-50750699-A-C | L2HGDH | c.593T>G | p.Val198Gly | Missense | 5/10 | - |
5-153381873-T-A | FAM114A2 | c.1194A>T | p.Ala398Ala | Synonymous | 11/14 | - |
5-153381873-T-C | FAM114A2 | c.1194A>G | p.Ala398Ala | Synonymous | 11/14 | - |
10-5436073-G-A | TUBAL3 | c.748C>T | p.Arg250Trp | Missense | 4/4 | - |
X-128695228-G-A | OCRL | c.897G>A | p.Met299Ile | Missense | 10/24 | - |
17-63200386-C-T | RGS9 | c.1170C>T | p.Ala390Ala | Synonymous | 15/19 | - |
21-30331935-G-A | LTN1 | c.2438C>T | - | missense_variant | 13/30 | - |
22-18566288-C-G | PEX26 | c.457C>G | p.Leu153Val | Missense | 4/6 | - |
14-45633647-A-G | FANCM | c.1667A>G | p.Asp556Gly | Missense | 10/23 | - |
15-42742620-G-A | ZNF106 | c.1781C>T | p.Thr594Ile | Missense | 2/19 | - |
X-101909785-C-G | ARMCX5-GPRASP2 | c.-480+49204C>G | - | intron_variant | - | 4/6 |
2-27803810-C-T | C2orf16 | c.4371C>T | p.Pro1457Pro | Synonymous | 1/1 | - |
18-9122611-T-C | NDUFV2 | c.401T>C | p.Val134Ala | Missense | 5/8 | - |
14-94044265-G-C | UNC79 | c.1758G>C | p.Pro586Pro | Synonymous | 18/50 | - |
1-201044681-C-T | CACNA1S | c.1890G>A | p.Pro630Pro | Synonymous | 13/44 | - |
7-151372609-G-A | PRKAG2 | c.581C>T | p.Ser194Leu | Missense | 4/16 | - |
21-47819560-T-C | PCNT | c.4641T>C | p.Ala1547Ala | Synonymous | 25/47 | - |
1-55464869-G-A | BSND | c.10G>A | p.Glu4Lys | Missense | 1/4 | - |
16-76482747-C-G | CNTNAP4 | c.823C>G | - | missense_variant | 7/25 | - |
3-113383221-A-G | USF3 | c.195T>C | p.Tyr65Tyr | Synonymous | 6/7 | - |
2-32530647-A-G | YIPF4 | c.687A>G | p.Pro229Pro | Synonymous | 6/6 | - |
1-214814059-T-G | CENPF | c.2378T>G | p.Met793Arg | Missense | 12/20 | - |
9-140005147-G-A | DPP7 | c.1432C>T | p.Arg478Cys | Missense | 13/13 | - |
9-33255100-T-C | BAG1 | c.*117A>G | - | 3-UTRSNV | 7/7 | - |
2-37579971-C-A | QPCT | c.160C>A | p.Arg54Arg | Synonymous | 2/7 | - |
X-118239017-C-G | KIAA1210 | c.1006G>C | p.Asp336His | Missense | 7/14 | - |
11-19955194-G-T | NAV2 | c.1404G>T | p.Gln468His | Missense | 7/38 | - |
17-35295663-C-A | LHX1 | c.169C>A | p.Arg57Arg | Synonymous | 1/5 | - |
18-13092424-G-A | CEP192 | c.6152G>A | p.Ser2051Asn | Missense | 34/45 | - |
7-150935083-G-A | CHPF2 | c.1635G>A | p.Val545Val | Synonymous | 4/4 | - |
13-32760476-C-A | FRY | c.3399C>A | p.Pro1133Pro | Synonymous | 27/61 | - |
X-85211362-T-C | CHM | c.962A>G | p.Tyr321Cys | Missense | 8/15 | - |
5-150726875-C-T | SLC36A2 | c.147G>A | p.Lys49Lys | Synonymous | 1/10 | - |
3-130345381-G-T | COL6A6 | c.4931G>T | p.Arg1644Leu | Missense | 24/36 | - |
1-231487133-G-A | SPRTN | c.534G>A | p.Pro178Pro | Synonymous | 4/5 | - |
X-117731469-A-G | DOCK11 | c.2339A>G | p.Asn780Ser | Missense | 21/53 | - |
20-43837144-T-C | SEMG1 | c.1206T>C | p.Asn402Asn | Synonymous | 2/3 | - |
7-128480123-C-A | FLNC | c.1458C>A | p.Pro486Pro | Synonymous | 9/47 | - |
2-215815807-C-A | ABCA12 | c.6648G>T | p.Arg2216Ser | Missense | 45/53 | - |
15-56736767-G-A | MNS1 | c.561C>T | p.Tyr187Tyr | Synonymous | 5/10 | - |
12-52967117-C-T | KRT74 | c.445G>A | p.Asp149Asn | Missense | 1/9 | - |
1-37307457-T-C | GRIK3 | c.1410A>G | p.Leu470Leu | Synonymous | 10/16 | - |
3-182583338-T-A | ATP11B | c.1295T>A | p.Ile432Asn | Missense | 13/30 | - |
22-31337950-T-C | MORC2 | c.440A>G | p.Asn147Ser | Missense | 9/27 | - |
7-134849530-T-C | TMEM140 | c.337T>C | p.Trp113Arg | Missense | 2/2 | - |
X-130415725-C-G | IGSF1 | c.1440G>C | p.Gly480Gly | Synonymous | 8/20 | - |
10-101995477-T-G | CWF19L1 | c.1419A>C | p.Thr473Thr | Synonymous | 13/14 | - |
11-20959394-C-T | NELL1 | c.1060C>T | p.Arg354Trp | Missense | 10/20 | - |
6-110768128-G-A | SLC22A16 | c.599C>T | p.Ala200Val | Missense | 3/8 | - |
3-159713243-C-A | IL12A | c.659C>A | p.Pro220Gln | Missense | 7/7 | - |
9-105767869-C-A | CYLC2 | c.956C>A | p.Ala319Glu | Missense | 5/8 | - |
13-23928671-C-T | SACS | c.2080G>A | p.Ala694Thr | Missense | 8/10 | - |
2-6990069-C-G | CMPK2 | c.1262G>C | p.Gly421Ala | Missense | 5/5 | - |
12-86198594-A-G | RASSF9 | c.1194T>C | p.Thr398Thr | Synonymous | 2/2 | - |
2-6990069-C-T | CMPK2 | c.1262G>A | p.Gly421Asp | Missense | 5/5 | - |
11-17552707-C-A | USH1C | c.381G>T | p.Gly127Gly | Synonymous | 4/21 | - |
14-90429666-T-A | TDP1 | c.208T>A | p.Ser70Thr | Missense | 3/17 | - |
1-244528053-G-C | C1orf100 | c.51G>C | p.Pro17Pro | Synonymous | 2/5 | - |
5-73153552-G-A | ARHGEF28 | c.1862G>A | p.Arg621Gln | Missense | 15/37 | - |
5-73153552-G-T | ARHGEF28 | c.1862G>T | p.Arg621Leu | Missense | 15/37 | - |
8-68396044-C-A | CPA6 | c.797G>T | p.Arg266Leu | Missense | 8/11 | - |
4-141320021-C-T | CLGN | c.868G>A | p.Val290Ile | Missense | 8/15 | - |
6-25600827-T-C | CARMIL1 | c.3405T>C | p.Ser1135Ser | Synonymous | 33/37 | - |
7-64864574-A-G | ZNF92 | c.1547A>G | p.Asn516Ser | Missense | 4/4 | - |
10-96824658-C-T | CYP2C8 | c.541G>A | p.Val181Ile | Missense | 4/9 | - |
14-70037683-C-T | CCDC177 | c.*533G>A | - | 3-UTRSNV | 2/2 | - |
11-1093365-T-C | MUC2 | c.12600T>C | - | synonymous_variant | 32/51 | - |
9-107581949-A-C | ABCA1 | c.3159T>G | p.Val1053Val | Synonymous | 22/50 | - |
14-70037683-C-A | CCDC177 | c.*533G>T | - | 3-UTRSNV | 2/2 | - |
9-133954548-C-T | LAMC3 | c.3790C>T | p.Arg1264Trp | Missense | 23/28 | - |
2-64780144-A-T | AFTPH | c.1536A>T | p.Gln512His | Missense | 2/9 | - |
8-139749799-G-T | COL22A1 | c.2107C>A | p.Pro703Thr | Missense | 23/65 | - |
11-73760413-G-T | C2CD3 | c.5330C>A | p.Ala1777Glu | Missense | 27/31 | - |
2-168107035-A-G | XIRP2 | c.9133A>G | p.Lys3045Glu | Missense | 9/11 | - |
12-121613229-G-A | P2RX7 | c.920G>A | p.Arg307Gln | Missense | 9/13 | - |
15-102359203-G-A | OR4F15 | c.814G>A | p.Ala272Thr | Missense | 1/1 | - |
17-45425287-C-T | EFCAB13 | c.631C>T | p.Arg211* | Nonsense | 9/25 | - |
3-184049385-C-T | EIF4G1 | c.4389C>T | p.Asp1463Asp | Synonymous | 29/32 | - |
21-43411610-G-A | ZBTB21 | c.2595C>T | p.Pro865Pro | Synonymous | 2/2 | - |
17-17125868-T-A | FLCN | c.726A>T | p.Thr242Thr | Synonymous | 7/8 | - |
19-9452308-G-C | ZNF559-ZNF177 | c.-391+3050G>C | - | intron_variant | - | 3/11 |
3-196842831-A-G | DLG1 | c.1509T>C | p.Ser503Ser | Synonymous | 14/26 | - |
14-45636328-A-G | FANCM | c.1964A>G | p.Asn655Ser | Missense | 11/23 | - |
17-2232669-C-T | TSR1 | c.1871G>A | p.Arg624Gln | Missense | 11/15 | - |
8-101011612-G-A | RGS22 | c.2827C>T | p.His943Tyr | Missense | 19/28 | - |
17-12862179-G-A | ARHGAP44 | c.1488G>A | p.Thr496Thr | Synonymous | 16/21 | - |
1-182787975-G-C | NPL | c.634G>C | p.Ala212Pro | Missense | 10/13 | - |
10-43620335-C-T | RET | c.2944C>T | p.Arg982Cys | Missense | 18/20 | - |
1-223949314-G-A | CAPN2 | c.1561G>A | p.Glu521Lys | Missense | 13/21 | - |
1-223949314-G-C | CAPN2 | c.1561G>C | p.Glu521Gln | Missense | 13/21 | - |
11-18309464-G-A | HPS5 | c.2537C>T | p.Pro846Leu | Missense | 17/23 | - |
13-108863332-C-T | LIG4 | c.285G>A | p.Glu95Glu | Synonymous | 2/2 | - |
10-7621895-G-T | ITIH5 | c.1241C>A | p.Thr414Lys | Missense | 9/15 | - |
10-7621895-G-A | ITIH5 | c.1241C>T | p.Thr414Met | Missense | 9/15 | - |
9-4118540-C-G | GLIS3 | c.473G>C | p.Gly158Ala | Missense | 3/10 | - |
12-65640071-G-A | LEMD3 | c.2699G>A | p.Arg900Gln | Missense | 13/13 | - |
7-99700378-C-T | AP4M1 | c.228C>T | p.Pro76Pro | Synonymous | 3/15 | - |
12-65640071-G-C | LEMD3 | c.2699G>C | p.Arg900Pro | Missense | 13/13 | - |
3-169496800-G-A | MYNN | c.511G>A | p.Ala171Thr | Missense | 3/8 | - |
3-169513320-A-T | LRRC34 | c.1048T>A | p.Ser350Thr | Missense | 9/10 | - |
15-56756420-C-T | MNS1 | c.29G>A | p.Cys10Tyr | Missense | 2/10 | - |
5-140735617-G-T | PCDHGA1 | c.2421+22945G>T | - | IntronicSNV | - | 1/3 |
6-106696090-G-T | ATG5 | c.508C>A | p.Arg170Arg | Synonymous | 6/8 | - |
1-175046826-G-A | TNN | c.272G>A | p.Arg91His | Missense | 2/19 | - |
14-74350841-A-G | PTGR2 | c.1017A>G | p.Gly339Gly | Synonymous | 10/10 | - |
12-41966699-A-G | PDZRN4 | c.1344A>G | p.Gly448Gly | Synonymous | 8/8 | - |
1-228476367-A-T | OBSCN | c.10117A>T | p.Ser3373Cys | Missense | 38/81 | - |
11-1017933-A-G | MUC6 | c.4868T>C | p.Leu1623Ser | Missense | 31/33 | - |
1-24706155-T-C | STPG1 | c.309A>G | p.Pro103Pro | Synonymous | 4/8 | - |
1-201288982-C-T | PKP1 | c.1271C>T | p.Pro424Leu | Missense | 7/15 | - |
6-106696090-G-A | ATG5 | c.508C>T | p.Arg170Trp | Missense | 6/8 | - |
5-140433211-A-T | PCDHB1 | c.2156A>T | p.Lys719Ile | Missense | 1/1 | - |
21-45945648-G-C | TSPEAR | c.1224C>G | p.His408Gln | Missense | 8/12 | - |
12-70049118-T-C | BEST3 | c.937A>G | p.Ile313Val | Missense | 6/6 | - |
5-41186220-T-G | C6 | c.678A>C | p.Thr226Thr | Synonymous | 6/18 | - |
7-148311240-C-T | C7orf33 | c.311C>T | p.Thr104Met | Missense | 2/3 | - |
12-100720492-A-G | SCYL2 | c.1602A>G | p.Gln534Gln | Synonymous | 12/18 | - |
15-73023725-G-A | BBS4 | c.791G>A | p.Cys264Tyr | Missense | 11/16 | - |
12-121855611-G-A | RNF34 | c.533G>A | p.Arg178His | Missense | 4/7 | - |
10-17110639-T-C | CUBN | c.2756A>G | p.His919Arg | Missense | 20/67 | - |
15-73023725-G-T | BBS4 | c.791G>T | p.Cys264Phe | Missense | 11/16 | - |
16-84797698-C-T | USP10 | c.1673C>T | p.Thr558Met | Missense | 11/15 | - |
2-85785667-T-C | GGCX | c.435A>G | p.Pro145Pro | Synonymous | 4/15 | - |
17-79612633-T-C | TSPAN10 | c.652T>C | p.Tyr218His | Missense | 2/4 | - |
11-819748-C-T | PNPLA2 | c.30C>T | p.Ile10Ile | Synonymous | 2/10 | - |
12-70949014-G-A | PTPRB | c.5069C>T | p.Thr1690Ile | Missense | 20/34 | - |
4-89607932-G-A | HERC3 | c.2553G>A | p.Glu851Glu | Synonymous | 22/26 | - |
1-228451836-C-T | OBSCN | c.4605C>T | p.Ala1535Ala | Synonymous | 16/81 | - |
1-228451836-C-G | OBSCN | c.4605C>G | p.Ala1535Ala | Synonymous | 16/81 | - |
1-228451836-C-A | OBSCN | c.4605C>A | p.Ala1535Ala | Synonymous | 16/81 | - |
8-144994212-A-G | PLEC | c.9858T>C | p.Ser3286Ser | Synonymous | 33/33 | - |
11-71189477-C-T | NADSYN1 | c.835C>T | p.Arg279Trp | Missense | 10/21 | - |
16-84797698-C-A | USP10 | c.1673C>A | p.Thr558Lys | Missense | 11/15 | - |
16-84797698-C-G | USP10 | c.1673C>G | p.Thr558Arg | Missense | 11/15 | - |
9-116856199-C-A | KIF12 | c.953G>T | p.Arg318Leu | Missense | 11/16 | - |
7-100612961-G-C | MUC12 | c.58G>C | p.Val20Leu | Missense | 1/12 | - |
14-65241933-G-A | SPTB | c.4752C>T | p.Asn1584Asn | Synonymous | 22/35 | - |
20-60768573-C-T | MTG2 | c.97C>T | p.Arg33Trp | Missense | 2/7 | - |
2-27587724-G-A | EIF2B4 | c.1233C>T | p.Asn411Asn | Synonymous | 12/13 | - |
10-88659852-A-G | BMPR1A | c.499A>G | p.Met167Val | Missense | 7/13 | - |
4-151765336-G-A | LRBA | c.4485C>T | p.Gly1495Gly | Synonymous | 28/57 | - |
1-213046088-G-A | FLVCR1 | c.952G>A | p.Glu318Lys | Missense | 3/10 | - |
19-43093033-G-A | CEACAM8 | c.861C>T | p.Pro287Pro | Synonymous | 4/6 | - |
16-21261685-C-G | ANKS4B | c.798C>G | p.Leu266Leu | Synonymous | 2/2 | - |
7-92027906-C-A | ANKIB1 | c.2913C>A | p.Gly971Gly | Synonymous | 20/20 | - |
8-61765560-G-A | CHD7 | c.6276G>A | p.Glu2092Glu | Synonymous | 31/38 | - |
10-28224075-G-T | ARMC4 | c.2359C>A | p.Arg787Ser | Missense | 16/20 | - |
1-247615098-T-C | OR2B11 | c.187A>G | p.Met63Val | Missense | 1/1 | - |
6-84884494-T-C | CEP162 | c.1977A>G | p.Glu659Glu | Synonymous | 15/27 | - |
10-28224075-G-A | ARMC4 | c.2359C>T | p.Arg787Cys | Missense | 16/20 | - |
4-107279479-G-A | GIMD1 | c.515C>T | p.Thr172Met | Missense | 2/2 | - |
10-21104613-T-C | NEBL | c.2182A>G | p.Thr728Ala | Missense | 22/28 | - |
5-131676322-C-A | SLC22A4 | c.1509C>A | p.Leu503Leu | Synonymous | 9/10 | - |
1-217604632-G-T | GPATCH2 | c.1442C>A | p.Thr481Lys | Missense | 10/10 | - |
7-12683807-C-G | SCIN | c.885C>G | p.Val295Val | Synonymous | 10/14 | - |
4-5642249-C-T | EVC2 | c.1462G>A | p.Gly488Ser | Missense | 10/22 | - |
21-15524921-C-A | LIPI | c.1154G>T | p.Gly385Val | Missense | 8/10 | - |
21-15524921-C-T | LIPI | c.1154G>A | p.Gly385Glu | Missense | 8/10 | - |
12-4461695-A-C | TIGAR | c.651A>C | p.Leu217Phe | Missense | 6/6 | - |
8-73849768-A-C | KCNB2 | c.2178A>C | p.Ala726Ala | Synonymous | 3/3 | - |
11-4790890-G-T | OR51F1 | c.279C>A | - | synonymous_variant | 1/1 | - |
2-210968966-T-C | KANSL1L | c.1290A>G | p.Gln430Gln | Synonymous | 4/15 | - |
8-73849768-A-T | KCNB2 | c.2178A>T | p.Ala726Ala | Synonymous | 3/3 | - |
12-57870726-T-C | ARHGAP9 | c.891A>G | p.Gln297Gln | Synonymous | 6/18 | - |
2-170070348-T-C | LRP2 | c.5859A>G | p.Arg1953Arg | Synonymous | 36/79 | - |
1-33161264-C-G | SYNC | c.435G>C | p.Arg145Ser | Missense | 2/5 | - |
1-33161264-C-T | SYNC | c.435G>A | p.Arg145Arg | Synonymous | 2/5 | - |
21-47575402-C-T | FTCD | c.36G>A | p.Ser12Ser | Synonymous | 1/15 | - |
7-128446398-C-T | CCDC136 | c.1197C>T | p.Leu399Leu | Synonymous | 8/18 | - |
6-143081405-G-A | HIVEP2 | c.6020C>T | p.Thr2007Met | Missense | 9/10 | - |
2-27715558-T-C | FNDC4 | c.644A>G | p.Gln215Arg | Missense | 6/7 | - |
4-55575669-G-A | KIT | c.1195G>A | p.Val399Ile | Missense | 7/21 | - |
4-77003212-T-C | ART3 | c.305T>C | p.Ile102Thr | Missense | 3/11 | - |
4-77003212-T-A | ART3 | c.305T>A | p.Ile102Asn | Missense | 3/11 | - |
11-67804000-C-T | NDUFS8 | c.573C>T | p.Asn191Asn | Synonymous | 7/7 | - |
6-36867376-C-G | C6orf89 | c.177C>G | p.Pro59Pro | Synonymous | 2/8 | - |
6-36867376-C-A | C6orf89 | c.177C>A | p.Pro59Pro | Synonymous | 2/8 | - |
16-67516945-C-T | AGRP | c.199G>A | p.Ala67Thr | Missense | 3/4 | - |
21-47771368-A-G | PCNT | c.1370A>G | p.Glu457Gly | Missense | 9/47 | - |
1-222713534-C-T | HHIPL2 | c.1268G>A | p.Arg423His | Missense | 4/9 | - |
15-45412435-G-A | DUOXA1 | c.638C>T | p.Thr213Met | Missense | 8/11 | - |
17-72842224-G-A | GRIN2C | c.2331C>T | p.Leu777Leu | Synonymous | 11/13 | - |
17-72842224-G-C | GRIN2C | c.2331C>G | p.Leu777Leu | Synonymous | 11/13 | - |
16-23200809-C-T | SCNN1G | c.435C>T | p.Ser145Ser | Synonymous | 3/13 | - |
1-160718069-A-G | SLAMF7 | c.141A>G | p.Gln47Gln | Synonymous | 2/7 | - |
7-113517888-T-C | PPP1R3A | c.3259A>G | p.Ile1087Val | Missense | 4/4 | - |
2-118577312-A-C | DDX18 | c.458A>C | p.Lys153Thr | Missense | 3/14 | - |
8-101727796-T-C | PABPC1 | c.537A>G | p.Arg179Arg | Synonymous | 4/15 | - |
11-4790890-G-A | OR51F1 | c.279C>T | - | synonymous_variant | 1/1 | - |
11-67804000-C-A | NDUFS8 | c.573C>A | p.Asn191Lys | Missense | 7/7 | - |
3-193372687-A-G | OPA1 | c.2049A>G | p.Val683Val | Synonymous | 22/31 | - |
6-36867376-C-T | C6orf89 | c.177C>T | p.Pro59Pro | Synonymous | 2/8 | - |
1-222713534-C-G | HHIPL2 | c.1268G>C | p.Arg423Pro | Missense | 4/9 | - |
3-145924454-C-A | PLSCR4 | c.213G>T | p.Leu71Phe | Missense | 4/9 | - |
3-130345381-G-C | COL6A6 | c.4931G>C | p.Arg1644Pro | Missense | 24/36 | - |
15-51791087-A-G | DMXL2 | c.4334T>C | p.Ile1445Thr | Missense | 18/43 | - |
14-80327852-G-T | NRXN3 | c.1079-154G>T | - | IntronicSNV | - | 6/6 |
16-129277-A-G | MPG | c.25-147A>G | - | IntronicSNV | - | 1/3 |
14-92088086-C-T | CATSPERB | c.2126G>A | p.Arg709Gln | Missense | 19/27 | - |
11-71259822-A-G | KRTAP5-9 | c.119A>G | p.Tyr40Cys | Missense | 1/1 | - |
4-106650631-C-G | GSTCD | c.954C>G | p.Leu318Leu | Synonymous | 5/12 | - |
3-145924454-C-G | PLSCR4 | c.213G>C | p.Leu71Phe | Missense | 4/9 | - |
13-103492092-G-A | BIVM | c.723G>A | p.Gly241Gly | Synonymous | 9/9 | - |
9-113192279-A-T | SVEP1 | c.5536T>A | p.Ser1846Thr | Missense | 34/48 | - |
1-228290033-T-C | C1orf35 | c.425A>G | p.Lys142Arg | Missense | 5/8 | - |
1-228290033-T-G | C1orf35 | c.425A>C | p.Lys142Thr | Missense | 5/8 | - |
16-47703131-T-G | PHKB | c.2433T>G | p.Thr811Thr | Synonymous | 26/31 | - |
5-7867027-A-G | FASTKD3 | c.1170T>C | p.Asn390Asn | Synonymous | 2/7 | - |
5-66448622-C-T | MAST4 | c.3453C>T | p.Tyr1151Tyr | Synonymous | 25/29 | - |
19-37681014-G-A | ZNF585B | c.111C>T | p.Ser37Ser | Synonymous | 3/5 | - |
10-17659149-C-T | HACD1 | c.190G>A | p.Glu64Lys | Missense | 1/7 | - |
10-17659149-C-G | HACD1 | c.190G>C | p.Glu64Gln | Missense | 1/7 | - |
13-52508979-C-T | ATP7B | c.4311G>A | p.Lys1437Lys | Synonymous | 21/21 | - |
1-235918870-T-G | LYST | c.7137A>C | p.Leu2379Leu | Synonymous | 25/53 | - |
19-8430886-G-A | ANGPTL4 | c.367G>A | p.Val123Met | Missense | 2/7 | - |
16-25258269-G-A | ZKSCAN2 | c.1248C>T | p.Cys416Cys | Synonymous | 5/7 | - |
1-235918870-T-A | LYST | c.7137A>T | p.Leu2379Leu | Synonymous | 25/53 | - |
19-56373462-G-A | NLRP4 | c.2123G>A | p.Arg708His | Missense | 5/10 | - |
1-192780268-T-C | RGS2 | c.432T>C | p.Ala144Ala | Synonymous | 4/5 | - |
5-42718928-G-T | GHR | c.1319G>T | p.Cys440Phe | Missense | 10/10 | - |
11-1093368-G-A | MUC2 | c.12603G>A | - | synonymous_variant | 32/51 | - |
11-1016654-T-G | MUC6 | c.6147A>C | p.Pro2049Pro | Synonymous | 31/33 | - |
2-179477267-T-C | TTN | c.42281A>G | p.Asn14094Ser | Missense | 215/312 | - |
2-179477267-T-G | TTN | c.42281A>C | p.Asn14094Thr | Missense | 215/312 | - |
9-124072992-G-C | GSN | c.535G>C | p.Val179Leu | Missense | 4/17 | - |
1-2938569-C-T | ACTRT2 | c.319C>T | p.Leu107Leu | Synonymous | 1/1 | - |
8-55539275-G-T | RP1 | c.2833G>T | p.Val945Leu | Missense | 4/4 | - |
8-54147470-G-A | OPRK1 | c.459C>T | p.Ser153Ser | Synonymous | 3/4 | - |
8-55539275-G-A | RP1 | c.2833G>A | p.Val945Ile | Missense | 4/4 | - |
18-55274688-C-T | NARS | c.789G>A | p.Arg263Arg | Synonymous | 8/14 | - |
8-124267570-A-T | ZHX1 | c.617T>A | p.Val206Asp | Missense | 3/4 | - |
10-55780078-C-T | PCDH15 | c.2625G>A | p.Ser875Ser | Synonymous | 20/33 | - |
3-139257727-T-C | RBP1 | c.334A>G | p.Met112Val | Missense | 2/4 | - |
7-83016312-T-A | SEMA3E | c.1722A>T | p.Gly574Gly | Synonymous | 15/17 | - |
4-166929102-G-T | TLL1 | c.819G>T | p.Glu273Asp | Missense | 7/10 | - |
11-86662401-C-T | FZD4 | c.1397G>A | p.Arg466Gln | Missense | 2/2 | - |
4-166929102-G-A | TLL1 | c.819G>A | p.Glu273Glu | Synonymous | 7/10 | - |
11-123886717-G-A | OR10G4 | c.436G>A | p.Gly146Ser | Missense | 1/1 | - |
1-243493888-C-T | SDCCAG8 | c.1115C>T | p.Ala372Val | Missense | 10/18 | - |
2-227661214-G-C | IRS1 | c.2241C>G | p.Ser747Ser | Synonymous | 1/2 | - |
1-243493888-C-G | SDCCAG8 | c.1115C>G | p.Ala372Gly | Missense | 10/18 | - |
4-17841394-G-A | NCAPG | c.2562G>A | p.Leu854Leu | Synonymous | 17/21 | - |
2-43814095-G-C | THADA | c.349C>G | p.Arg117Gly | Missense | 5/38 | - |
2-43814095-G-A | THADA | c.349C>T | p.Arg117Cys | Missense | 5/38 | - |
17-49197883-C-T | SPAG9 | c.135G>A | p.Glu45Glu | Synonymous | 1/29 | - |
13-111082772-G-T | COL4A2 | c.574G>T | p.Val192Phe | Missense | 9/48 | - |
5-167489170-A-G | TENM2 | c.1415A>G | p.His472Arg | Missense | 8/30 | - |
9-105767798-C-T | CYLC2 | c.885C>T | p.Asp295Asp | Synonymous | 5/8 | - |
2-210559865-G-A | MAP2 | c.455-5136G>A | - | IntronicSNV | - | 7/14 |
12-6948528-T-A | P3H3 | c.2111T>A | - | missense_variant | 16/16 | - |
3-112693652-A-T | CD200R1 | c.53T>A | p.Ile18Asn | Missense | 1/8 | - |
3-112693652-A-G | CD200R1 | c.53T>C | p.Ile18Thr | Missense | 1/8 | - |
3-97851892-G-A | OR5H1 | c.351G>A | p.Thr117Thr | Synonymous | 1/1 | - |
10-16979606-G-C | CUBN | c.5911C>G | p.Pro1971Ala | Missense | 39/67 | - |
12-6948528-T-C | P3H3 | c.2111T>C | - | missense_variant | 16/16 | - |
3-71026809-T-C | FOXP1 | c.1413A>G | p.Ala471Ala | Synonymous | 16/21 | - |
18-44407993-G-A | PIAS2 | c.1437C>T | p.Asp479Asp | Synonymous | 11/14 | - |
3-196050728-T-C | TM4SF19 | c.590A>G | p.Asn197Ser | Missense | 5/5 | - |
1-109492478-T-C | CLCC1 | c.195A>G | p.Ser65Ser | Synonymous | 3/12 | - |
5-131923710-G-A | RAD50 | c.980G>A | p.Arg327His | Missense | 7/25 | - |
11-33620408-A-G | KIAA1549L | c.4794A>G | - | synonymous_variant | 13/21 | - |
20-35796576-G-T | MROH8 | c.597C>A | p.Asn199Lys | Missense | 5/25 | - |
20-35796576-G-C | MROH8 | c.597C>G | p.Asn199Lys | Missense | 5/25 | - |
9-137591855-G-T | COL5A1 | c.378G>T | p.Gln126His | Missense | 3/66 | - |
4-96091414-C-T | UNC5C | c.2521G>A | p.Ala841Thr | Missense | 15/16 | - |
16-10525062-C-T | ATF7IP2 | c.585C>T | p.Asp195Asp | Synonymous | 3/12 | - |
16-56906626-C-G | SLC12A3 | c.1023C>G | p.Phe341Leu | Missense | 8/26 | - |
16-56906626-C-T | SLC12A3 | c.1023C>T | p.Phe341Phe | Synonymous | 8/26 | - |
1-167096982-A-G | DUSP27 | c.2614A>G | p.Lys872Glu | Missense | 6/6 | - |
19-52497745-T-C | ZNF615 | c.584A>G | p.Gln195Arg | Missense | 6/6 | - |
3-113115543-C-T | CFAP44 | c.1601G>A | p.Gly534Glu | Missense | 14/21 | - |
19-7998386-G-T | TIMM44 | c.753C>A | p.Asn251Lys | Missense | 7/13 | - |
3-113115543-C-G | CFAP44 | c.1601G>C | p.Gly534Ala | Missense | 14/21 | - |
8-100844858-C-T | VPS13B | c.9667C>T | p.Arg3223Trp | Missense | 52/62 | - |
7-95157533-G-A | ASB4 | c.896G>A | p.Arg299His | Missense | 3/5 | - |
7-95157533-G-T | ASB4 | c.896G>T | p.Arg299Leu | Missense | 3/5 | - |
16-74706385-G-A | MLKL | c.*17C>T | - | 3-UTRSNV | 11/11 | - |
2-238287288-C-T | COL6A3 | c.2488G>A | p.Ala830Thr | Missense | 6/44 | - |
12-112590278-C-T | TRAFD1 | c.1667C>T | p.Ala556Val | Missense | 11/12 | - |
15-99798405-C-T | LRRC28 | c.168+2075C>T | - | IntronicSNV | - | 2/9 |
10-45878050-G-A | ALOX5 | c.270G>A | p.Thr90Thr | Synonymous | 2/14 | - |
10-45878050-G-C | ALOX5 | c.270G>C | p.Thr90Thr | Synonymous | 2/14 | - |
12-113382355-G-C | OAS3 | c.535G>C | p.Glu179Gln | Missense | 3/16 | - |
12-113382355-G-A | OAS3 | c.535G>A | p.Glu179Lys | Missense | 3/16 | - |
1-86920913-G-A | CLCA2 | c.2535G>A | p.Thr845Thr | Synonymous | 14/14 | - |
7-87060844-C-G | ABCB4 | c.1769G>C | p.Arg590Pro | Missense | 15/28 | - |
7-56087364-G-T | PSPH | c.204C>A | p.Leu68Leu | Synonymous | 5/8 | - |
17-60043929-T-C | MED13 | c.4275A>G | p.Lys1425Lys | Synonymous | 19/30 | - |
10-90524335-C-G | LIPN | c.395C>G | p.Ser132* | Nonsense | 3/9 | - |
3-48414274-C-T | FBXW12 | c.17C>T | p.Pro6Leu | Missense | 2/11 | - |
3-18391052-T-C | SATB1 | c.1902A>G | p.Pro634Pro | Synonymous | 11/11 | - |
10-25313348-A-G | THNSL1 | c.1196A>G | p.Gln399Arg | Missense | 3/3 | - |
4-152203451-C-T | PRSS48 | c.367C>T | p.Gln123* | Nonsense | 3/5 | - |
3-138037006-G-T | NME9 | c.185C>A | p.Thr62Asn | Missense | 6/12 | - |
4-152203451-C-G | PRSS48 | c.367C>G | p.Gln123Glu | Missense | 3/5 | - |
4-152637228-C-T | GATB | c.696G>A | p.Ala232Ala | Synonymous | 5/13 | - |
2-186673264-A-G | FSIP2 | c.19498A>G | p.Asn6500Asp | Missense | 17/23 | - |
7-151882657-T-G | KMT2C | c.5068A>C | p.Arg1690Arg | Synonymous | 34/59 | - |
20-32883308-G-A | AHCY | c.112C>T | p.Arg38Trp | Missense | 2/10 | - |
9-107331727-C-T | OR13C8 | c.279C>T | p.Ser93Ser | Synonymous | 1/1 | - |
11-64666182-C-A | ATG2A | c.4597G>T | p.Ala1533Ser | Missense | 32/41 | - |
3-186508022-G-A | RFC4 | c.905C>T | p.Ala302Val | Missense | 10/11 | - |
7-121513577-C-T | PTPRZ1 | c.24C>T | p.Leu8Leu | Synonymous | 1/30 | - |
19-5749171-A-G | CATSPERD | c.964A>G | p.Ile322Val | Missense | 11/22 | - |
1-162344186-C-T | SPATA46 | c.438G>A | p.Glu146Glu | Synonymous | 3/3 | - |
X-70073159-T-C | TEX11 | c.389A>G | p.Lys130Arg | Missense | 7/31 | - |
13-73333935-A-G | DIS3 | c.2875T>C | - | Missense | 21/21 | - |
2-172341453-G-C | DCAF17 | c.*3829G>C | - | 3-UTRSNV | 14/14 | - |
9-130587560-G-T | ENG | c.766C>A | p.Pro256Thr | Missense | 6/14 | - |
7-158711439-C-G | WDR60 | c.1800C>G | p.Ala600Ala | Synonymous | 15/25 | - |
9-5358285-A-G | PLGRKT | c.398T>C | p.Ile133Thr | Missense | 6/6 | - |
22-38155497-A-G | TRIOBP | c.6324+226A>G | - | IntronicSNV | - | 17/23 |
2-168115769-G-T | XIRP2 | c.*1442G>T | - | 3_prime_UTR_variant | 11/11 | - |
2-168115769-G-C | XIRP2 | c.*1442G>C | - | 3_prime_UTR_variant | 11/11 | - |
4-146650323-A-G | C4orf51 | c.369A>G | p.Ala123Ala | Synonymous | 4/6 | - |
20-32856838-C-A | ASIP | c.264C>A | p.Pro88Pro | Synonymous | 3/3 | - |
2-233712109-A-G | GIGYF2 | c.3512A>G | p.His1171Arg | Missense | 27/29 | - |
19-9267302-G-A | ZNF317 | c.40G>A | p.Asp14Asn | Missense | 3/7 | - |
2-233712109-A-T | GIGYF2 | c.3512A>T | p.His1171Leu | Missense | 27/29 | - |
1-184764351-G-A | FAM129A | c.2547C>T | p.Asp849Asp | Synonymous | 14/14 | - |
17-73559441-C-T | LLGL2 | c.723C>T | p.Asp241Asp | Synonymous | 8/25 | - |
10-97371146-G-A | ALDH18A1 | c.1977C>T | p.Ser659Ser | Synonymous | 16/18 | - |
1-236966848-G-A | MTR | c.155G>A | p.Arg52Gln | Missense | 2/33 | - |
7-103292201-G-A | RELN | c.1799C>T | p.Ser600Phe | Missense | 15/65 | - |
2-152398045-G-C | NEB | c.15495C>G | p.Gly5165Gly | Synonymous | 109/150 | - |
9-19786015-C-A | SLC24A2 | c.850G>T | p.Val284Phe | Missense | 1/10 | - |
10-96025697-G-A | PLCE1 | c.4263G>A | p.Ser1421Ser | Synonymous | 16/33 | - |
17-1678353-G-C | SERPINF1 | c.645G>C | p.Gly215Gly | Synonymous | 6/8 | - |
10-96025697-G-T | PLCE1 | c.4263G>T | p.Ser1421Ser | Synonymous | 16/33 | - |
19-36211359-A-G | KMT2B | c.1110A>G | p.Glu370Glu | Synonymous | 3/37 | - |
1-31347320-G-A | SDC3 | c.986C>T | p.Thr329Ile | Missense | 4/5 | - |
4-15989304-G-A | PROM1 | c.2112C>T | p.Arg704Arg | Synonymous | 20/28 | - |
2-168115710-T-C | XIRP2 | c.*1383T>C | - | 3_prime_UTR_variant | 11/11 | - |
6-159183129-A-G | SYTL3 | c.1232A>G | p.His411Arg | Missense | 15/17 | - |
11-92086828-T-C | FAT3 | c.1550T>C | p.Leu517Ser | Missense | 1/25 | - |
3-4358209-G-A | SETMAR | c.1334G>A | p.Arg445Gln | Missense | 3/3 | - |
8-114186071-C-T | CSMD3 | c.589G>A | p.Gly197Arg | Missense | 4/69 | - |
2-175243659-T-C | CIR1 | c.476A>G | p.Asp159Gly | Missense | 7/10 | - |
8-90782128-A-T | RIPK2 | c.612A>T | p.Ser204Ser | Synonymous | 4/11 | - |
11-61722627-G-C | BEST1 | c.201G>C | p.Leu67Leu | Synonymous | 3/11 | - |
1-41289826-C-T | KCNQ4 | c.1188C>T | p.Pro396Pro | Synonymous | 9/14 | - |
11-64666182-C-T | ATG2A | c.4597G>A | p.Ala1533Thr | Missense | 32/41 | - |
12-124156637-C-T | TCTN2 | c.225C>T | p.Asn75Asn | Synonymous | 3/18 | - |
1-192613475-G-A | RGS13 | c.11G>A | p.Arg4Gln | Missense | 4/7 | - |
8-113326269-T-C | CSMD3 | c.7250A>G | p.Gln2417Arg | Missense | 48/69 | - |
19-39025366-C-G | RYR1 | c.11266C>G | p.Gln3756Glu | Missense | 79/106 | - |
17-63554307-A-G | AXIN2 | c.432T>C | p.Ile144Ile | Synonymous | 2/11 | - |
7-113519485-C-G | PPP1R3A | c.1662G>C | p.Gly554Gly | Synonymous | 4/4 | - |
1-220298664-A-G | IARS2 | c.1726A>G | p.Lys576Glu | Missense | 13/23 | - |
3-132277907-G-A | ACAD11 | c.2251C>T | p.Arg751Cys | Missense | 20/20 | - |
9-19380205-T-C | RPS6 | c.1-12A>G | - | 5-UTRSNV | 1/6 | - |
11-1027174-G-A | MUC6 | c.2251C>T | p.Leu751Leu | Synonymous | 18/33 | - |
2-179407152-C-G | TTN | c.89627G>C | p.Arg29876Pro | Missense | 298/312 | - |
1-154918654-C-T | PBXIP1 | c.1496G>A | p.Arg499Gln | Missense | 10/11 | - |
2-179498303-T-C | TTN | c.35079A>G | p.Lys11693Lys | Synonymous | 181/312 | - |
22-50696678-G-A | MAPK12 | c.308C>T | p.Thr103Met | Missense | 3/12 | - |
1-192613475-G-T | RGS13 | c.11G>T | p.Arg4Leu | Missense | 4/7 | - |
4-47408896-G-A | GABRB1 | c.1033G>A | p.Asp345Asn | Missense | 8/9 | - |
5-13844951-C-T | DNAH5 | c.5266G>A | p.Glu1756Lys | Missense | 32/79 | - |
1-207110888-G-A | PIGR | c.597C>T | p.Gly199Gly | Synonymous | 4/11 | - |
1-212560300-A-G | TMEM206 | c.276T>C | p.Phe92Phe | Synonymous | 3/8 | - |
2-179407152-C-T | TTN | c.89627G>A | p.Arg29876His | Missense | 298/312 | - |
9-13168408-G-A | MPDZ | c.3211C>T | p.Arg1071* | Nonsense | 22/46 | - |
2-27429808-G-A | SLC5A6 | c.396C>T | p.Tyr132Tyr | Synonymous | 4/17 | - |
22-41605776-G-A | L3MBTL2 | c.101G>A | p.Arg34Gln | Missense | 2/17 | - |
22-41605776-G-C | L3MBTL2 | c.101G>C | p.Arg34Pro | Missense | 2/17 | - |
20-44588904-G-A | ZNF335 | c.1963C>T | p.Pro655Ser | Missense | 14/28 | - |
14-71137844-G-T | TTC9 | c.641G>T | p.Cys214Phe | Missense | 3/3 | - |
2-64335394-A-G | PELI1 | c.51T>C | p.Tyr17Tyr | Synonymous | 2/7 | - |
12-19427764-T-C | PLEKHA5 | c.1142T>C | p.Val381Ala | Missense | 10/26 | - |
21-33726326-G-A | URB1 | c.2332C>T | p.Leu778Leu | Synonymous | 18/39 | - |
7-87160645-G-A | ABCB1 | c.2650C>T | p.Leu884Leu | Synonymous | 22/29 | - |
7-31009576-G-T | GHRHR | c.363G>T | p.Glu121Asp | Missense | 4/13 | - |
8-105502999-G-A | LRP12 | c.2482C>T | p.Arg828Cys | Missense | 7/7 | - |
20-19956311-G-A | RIN2 | c.1789G>A | p.Val597Met | Missense | 8/12 | - |
13-115090136-T-C | CHAMP1 | c.819T>C | p.Thr273Thr | Synonymous | 3/3 | - |
20-45131618-A-G | ZNF334 | c.357T>C | p.Leu119Leu | Synonymous | 6/6 | - |
4-156832715-A-C | TDO2 | c.685A>C | p.Asn229His | Missense | 7/12 | - |
7-27140497-C-T | HOXA2 | c.979G>A | p.Val327Ile | Missense | 2/2 | - |
1-85718232-A-C | C1orf52 | c.*80T>G | - | 3-UTRSNV | 3/3 | - |
X-119760581-C-T | C1GALT1C1 | c.441G>A | p.Thr147Thr | Synonymous | 3/3 | - |
12-125397337-A-G | UBC | c.981T>C | p.Ile327Ile | Synonymous | 2/2 | - |
6-34791089-A-G | UHRF1BP1 | c.302A>G | p.Asn101Ser | Missense | 4/21 | - |
1-183101625-G-A | LAMC1 | c.3657G>A | p.Leu1219Leu | Synonymous | 21/28 | - |
6-34791089-A-T | UHRF1BP1 | c.302A>T | p.Asn101Ile | Missense | 4/21 | - |
17-72436370-G-A | GPRC5C | c.455G>A | - | missense_variant | 2/4 | - |
17-80045047-G-C | FASN | c.3306C>G | p.Ala1102Ala | Synonymous | 21/43 | - |
1-8030994-G-A | PARK7 | c.293G>A | p.Arg98Gln | Missense | 5/7 | - |
10-70968505-C-G | SUPV3L1 | c.2075C>G | p.Pro692Arg | Missense | 15/15 | - |
10-70968505-C-A | SUPV3L1 | c.2075C>A | p.Pro692Gln | Missense | 15/15 | - |
10-70968505-C-T | SUPV3L1 | c.2075C>T | p.Pro692Leu | Missense | 15/15 | - |
6-39507889-C-A | KIF6 | c.1535G>T | p.Arg512Leu | Missense | 13/23 | - |
17-10223697-G-T | MYH13 | c.3228C>A | p.Asp1076Glu | Missense | 25/41 | - |
19-5733908-G-A | CATSPERD | c.318G>A | p.Ser106Ser | Synonymous | 5/22 | - |
5-38925370-C-T | OSMR | c.2109C>T | p.Asn703Asn | Synonymous | 15/18 | - |
2-27293041-C-T | AGBL5 | c.2571C>T | p.Ser857Ser | Synonymous | 15/15 | - |
12-7647768-G-C | CD163 | c.1329C>G | p.Asn443Lys | Missense | 6/17 | - |
15-77233976-A-G | RCN2 | c.448-2123A>G | - | IntronicSNV | - | 3/6 |
6-121452897-G-T | TBC1D32 | c.2775C>A | p.Asp925Glu | Missense | 25/32 | - |
18-2750444-C-T | SMCHD1 | c.4104C>T | p.Pro1368Pro | Synonymous | 32/48 | - |
10-123258034-A-C | FGFR2 | c.1647T>G | p.Asn549Lys | Missense | 12/18 | - |
10-123258034-A-T | FGFR2 | c.1647T>A | p.Asn549Lys | Missense | 12/18 | - |
2-47643457-G-T | MSH2 | c.965G>T | p.Gly322Val | Missense | 6/16 | - |
3-184049090-G-A | EIF4G1 | c.4201G>A | p.Gly1401Arg | Missense | 28/32 | - |
2-47643457-G-A | MSH2 | c.965G>A | p.Gly322Asp | Missense | 6/16 | - |
10-50678820-A-G | ERCC6 | c.3186T>C | p.Ser1062Ser | Synonymous | 18/21 | - |
8-62370916-T-G | CLVS1 | c.792T>G | p.Pro264Pro | Synonymous | 5/6 | - |
X-44171875-C-T | EFHC2 | c.170G>A | p.Cys57Tyr | Missense | 2/15 | - |
12-15669722-G-T | PTPRO | c.1611G>T | p.Met537Ile | Missense | 9/26 | - |
X-100653420-C-T | GLA | c.937G>A | p.Asp313Asn | Missense | 6/7 | - |
17-77043894-C-T | C1QTNF1 | c.570C>T | p.Pro190Pro | Synonymous | 4/4 | - |
9-140052874-G-A | GRIN1 | c.1012G>A | p.Val338Met | Missense | 7/20 | - |
8-139672708-G-C | COL22A1 | c.3256C>G | p.Pro1086Ala | Missense | 44/65 | - |
1-171073021-T-A | FMO3 | c.228T>A | p.Asp76Glu | Missense | 3/9 | - |
1-171073021-T-C | FMO3 | c.228T>C | p.Asp76Asp | Synonymous | 3/9 | - |
5-89953849-C-T | ADGRV1 | c.4506C>T | p.Pro1502Pro | Synonymous | 21/90 | - |
13-28623587-C-T | FLT3 | c.970G>A | p.Asp324Asn | Missense | 8/24 | - |
13-79932548-T-C | RBM26 | c.1550A>G | p.Asn517Ser | Missense | 11/21 | - |
9-136219594-G-A | SURF1 | c.543C>T | p.Phe181Phe | Synonymous | 6/9 | - |
20-44141411-C-T | SPINT3 | c.150G>A | p.Thr50Thr | Synonymous | 2/2 | - |
1-12064892-G-A | MFN2 | c.1403G>A | p.Arg468His | Missense | 14/19 | - |
17-39191013-C-T | KRTAP1-3 | c.61G>A | p.Gly21Ser | Missense | 1/1 | - |
5-89953849-C-A | ADGRV1 | c.4506C>A | p.Pro1502Pro | Synonymous | 21/90 | - |
5-36677083-G-C | SLC1A3 | c.657G>C | p.Glu219Asp | Missense | 6/10 | - |
11-126147035-T-G | FOXRED1 | c.1171T>G | p.Leu391Val | Missense | 10/11 | - |
4-106650631-C-T | GSTCD | c.954C>T | p.Leu318Leu | Synonymous | 5/12 | - |
11-120350819-A-G | ARHGEF12 | c.3917A>G | p.Tyr1306Cys | Missense | 38/41 | - |
15-44864894-C-T | SPG11 | c.5991G>A | p.Gly1997Gly | Synonymous | 31/38 | - |
12-124090655-C-T | DDX55 | c.195C>T | p.Ile65Ile | Synonymous | 3/14 | - |
17-12862179-G-T | ARHGAP44 | c.1488G>T | p.Thr496Thr | Synonymous | 16/21 | - |
8-67680091-G-A | SGK3 | c.1-25881G>A | - | IntronicSNV | - | 1/16 |
1-228481897-A-C | OBSCN | c.11176A>C | p.Thr3726Pro | Missense | 42/81 | - |
12-7053321-G-A | C12orf57 | c.37G>A | p.Ala13Thr | Missense | 1/3 | - |
1-33475639-G-A | AK2 | c.*3143C>T | - | IntergenicSNV | 6/6 | - |
7-139734069-C-T | PARP12 | c.1387G>A | p.Val463Met | Missense | 8/12 | - |
16-89603235-G-A | SPG7 | c.1324+4191G>A | - | IntronicSNV | - | 9/16 |
12-70049118-T-A | BEST3 | c.937A>T | p.Ile313Phe | Missense | 6/6 | - |
16-89238215-C-T | CDH15 | c.1-25C>T | - | 5-UTRSNV | 1/14 | - |
16-335628-G-A | PDIA2 | c.1044G>A | p.Ala348Ala | Synonymous | 7/11 | - |
4-106157698-T-C | TET2 | c.2599T>C | p.Tyr867His | Missense | 3/3 | - |
12-51450211-A-T | LETMD1 | c.841A>T | p.Thr281Ser | Missense | 7/9 | - |
12-44194265-A-G | TWF1 | c.351T>C | p.Ile117Ile | Synonymous | 4/9 | - |
16-66975712-G-T | CES2 | c.1098G>T | - | missense_variant | 8/12 | - |
16-21261685-C-T | ANKS4B | c.798C>T | p.Leu266Leu | Synonymous | 2/2 | - |
1-207106444-A-G | PIGR | c.1773T>C | p.Phe591Phe | Synonymous | 7/11 | - |
14-105404593-G-C | AHNAK2 | c.17195C>G | p.Thr5732Arg | Missense | 7/7 | - |
14-105404593-G-A | AHNAK2 | c.17195C>T | p.Thr5732Met | Missense | 7/7 | - |
3-130174433-A-G | COL6A5 | c.6713A>G | p.Gln2238Arg | Missense | 37/40 | - |
2-179587546-A-G | TTN | c.18348T>C | p.Asp6116Asp | Synonymous | 73/312 | - |
20-36940314-C-A | BPI | c.575C>A | - | missense_variant | 5/15 | - |
3-151463423-G-A | AADACL2 | c.558G>A | p.Ala186Ala | Synonymous | 4/5 | - |
12-7021957-G-A | LRRC23 | c.759-1098G>A | - | IntronicSNV | - | 6/6 |
9-19380205-T-A | RPS6 | c.1-12A>T | - | 5-UTRSNV | 1/6 | - |
20-47688957-A-G | CSE1L | c.903A>G | p.Leu301Leu | Synonymous | 9/25 | - |
7-138921799-A-G | UBN2 | c.517A>G | p.Arg173Gly | Missense | 2/18 | - |
7-138921799-A-T | UBN2 | c.517A>T | p.Arg173Trp | Missense | 2/18 | - |
2-209116182-A-C | IDH1 | c.94T>G | p.Phe32Val | Missense | 3/10 | - |
5-76332468-G-A | AGGF1 | c.604G>A | p.Val202Ile | Missense | 4/14 | - |
10-17088006-T-C | CUBN | c.3417A>G | p.Leu1139Leu | Synonymous | 24/67 | - |
9-34311195-G-C | KIF24 | c.150C>G | p.Asp50Glu | Missense | 2/13 | - |
13-115090931-C-T | CHAMP1 | c.1614C>T | p.Ala538Ala | Synonymous | 3/3 | - |
20-52788190-G-A | CYP24A1 | c.469C>T | p.Arg157Trp | Missense | 3/12 | - |
1-184764351-G-T | FAM129A | c.2547C>A | p.Asp849Glu | Missense | 14/14 | - |
2-73678004-A-G | ALMS1 | c.4347A>G | p.Glu1449Glu | Synonymous | 8/23 | - |
3-133341959-T-C | TOPBP1 | c.3154A>G | p.Ser1052Gly | Missense | 19/28 | - |
10-88659852-A-T | BMPR1A | c.499A>T | p.Met167Leu | Missense | 7/13 | - |
4-146651099-G-A | C4orf51 | c.483G>A | p.Gly161Gly | Synonymous | 5/6 | - |
19-5924893-G-A | RANBP3 | c.941C>T | p.Ala314Val | Missense | 11/17 | - |
9-125133340-G-A | PTGS1 | c.1-24G>A | - | 5-UTRSNV | 1/11 | - |
20-36940314-C-T | BPI | c.575C>T | - | missense_variant | 5/15 | - |
18-9936132-T-C | VAPA | c.258T>C | p.Asp86Asp | Synonymous | 3/7 | - |
1-248084440-T-G | OR2T8 | c.121T>G | p.Ser41Ala | Missense | 1/1 | - |
20-47587799-G-A | ARFGEF2 | c.1333G>A | p.Val445Ile | Missense | 10/39 | - |
5-60241050-G-A | NDUFAF2 | c.1-33G>A | - | 5-UTRSNV | 1/4 | - |
2-226273749-T-G | NYAP2 | c.153T>G | p.Asn51Lys | Missense | 2/6 | - |
17-68128291-G-C | KCNJ16 | c.168G>C | - | synonymous_variant | 5/5 | - |
1-162351752-C-A | C1orf226 | c.61C>A | p.His21Asn | Missense | 1/2 | - |
8-33230203-A-T | FUT10 | c.1332T>A | p.Ile444Ile | Synonymous | 5/5 | - |
1-162351752-C-G | C1orf226 | c.61C>G | p.His21Asp | Missense | 1/2 | - |
16-23200809-C-G | SCNN1G | c.435C>G | p.Ser145Ser | Synonymous | 3/13 | - |
19-16593359-C-G | CALR3 | c.820G>C | p.Val274Leu | Missense | 7/9 | - |
19-4902722-A-G | ARRDC5 | c.116T>C | - | missense_variant | 1/3 | - |
12-19427766-A-G | PLEKHA5 | c.1144A>G | p.Ser382Gly | Missense | 10/26 | - |
19-16593359-C-T | CALR3 | c.820G>A | p.Val274Ile | Missense | 7/9 | - |
11-59573999-C-T | MRPL16 | c.577G>A | p.Gly193Arg | Missense | 4/4 | - |
7-81714123-A-C | CACNA2D1 | c.620T>G | p.Val207Gly | Missense | 7/39 | - |
19-49254504-G-A | FUT1 | c.35C>T | p.Ala12Val | Missense | 4/4 | - |
20-62560701-C-G | DNAJC5 | c.144C>G | p.Pro48Pro | Synonymous | 3/5 | - |
20-62560701-C-T | DNAJC5 | c.144C>T | p.Pro48Pro | Synonymous | 3/5 | - |
12-72026160-T-C | ZFC3H1 | c.2952A>G | p.Lys984Lys | Synonymous | 15/35 | - |
5-34863034-A-T | TTC23L | c.411A>T | p.Thr137Thr | Synonymous | 5/11 | - |
5-34863034-A-C | TTC23L | c.411A>C | p.Thr137Thr | Synonymous | 5/11 | - |
5-34863034-A-G | TTC23L | c.411A>G | p.Thr137Thr | Synonymous | 5/11 | - |
3-1339584-G-T | CNTN6 | c.670G>T | p.Glu224* | Nonsense | 7/23 | - |
2-152410513-C-T | NEB | c.14352G>A | p.Lys4784Lys | Synonymous | 99/150 | - |
7-142640415-G-A | KEL | c.1719C>T | p.Gly573Gly | Synonymous | 16/19 | - |
5-156671437-G-A | ITK | c.1398G>A | p.Val466Val | Synonymous | 13/17 | - |
5-54410065-G-A | CDC20B | c.1529C>T | p.Ser510Phe | Missense | 12/12 | - |
1-162351752-C-T | C1orf226 | c.61C>T | p.His21Tyr | Missense | 1/2 | - |
13-96529571-T-C | UGGT2 | c.3435A>G | p.Leu1145Leu | Synonymous | 29/39 | - |
13-96529571-T-A | UGGT2 | c.3435A>T | p.Leu1145Phe | Missense | 29/39 | - |
4-88537447-T-C | DSPP | c.3633T>C | p.Ser1211Ser | Synonymous | 5/5 | - |
11-100998900-A-C | PGR | c.902T>G | p.Met301Arg | Missense | 1/8 | - |
3-32933261-C-T | TRIM71 | c.2565C>T | p.Ile855Ile | Synonymous | 4/4 | - |
8-96281363-G-C | C8orf37 | c.55C>G | p.Pro19Ala | Missense | 1/6 | - |
16-21151980-T-C | DNAH3 | c.573A>G | p.Val191Val | Synonymous | 5/62 | - |
8-96281363-G-A | C8orf37 | c.55C>T | p.Pro19Ser | Missense | 1/6 | - |
6-136593183-G-C | BCLAF1 | c.1993C>G | p.His665Asp | Missense | 8/13 | - |
1-155735901-C-T | GON4L | c.3363G>A | p.Lys1121Lys | Synonymous | 21/21 | - |
4-177243366-G-A | SPCS3 | c.189G>A | p.Leu63Leu | Synonymous | 2/5 | - |
4-177243366-G-T | SPCS3 | c.189G>T | p.Leu63Leu | Synonymous | 2/5 | - |
1-152733376-C-A | KPRP | c.1312C>A | p.Pro438Thr | Missense | 2/2 | - |
1-152733376-C-T | KPRP | c.1312C>T | p.Pro438Ser | Missense | 2/2 | - |
11-120929151-C-G | TBCEL | c.810C>G | p.Thr270Thr | Synonymous | 6/8 | - |
14-23549383-G-T | ACIN1 | c.1335C>A | p.Ala445Ala | Synonymous | 6/19 | - |
14-23549383-G-A | ACIN1 | c.1335C>T | p.Ala445Ala | Synonymous | 6/19 | - |
1-182617348-G-A | RGS8 | c.338C>T | p.Thr113Ile | Missense | 5/6 | - |
12-124171453-A-T | TCTN2 | c.635A>T | p.Asn212Ile | Missense | 6/18 | - |
20-55111273-C-T | FAM209B | c.295C>T | p.Leu99Leu | Synonymous | 2/2 | - |
2-25991689-T-G | ASXL2 | c.553A>C | p.Ser185Arg | Missense | 7/13 | - |
2-25991689-T-C | ASXL2 | c.553A>G | p.Ser185Gly | Missense | 7/13 | - |
11-1017522-T-G | MUC6 | c.5279A>C | p.Glu1760Ala | Missense | 31/33 | - |
12-105504953-T-C | WASHC4 | c.112T>C | p.Tyr38His | Missense | 2/33 | - |
12-106461476-G-A | NUAK1 | c.1090C>T | p.Arg364Trp | Missense | 7/7 | - |
2-27262667-G-A | TMEM214 | c.1584G>A | p.Ala528Ala | Synonymous | 14/17 | - |
4-147110790-A-T | LSM6 | c.225A>T | p.Thr75Thr | Synonymous | 4/4 | - |
18-21424986-T-C | LAMA3 | c.3617T>C | p.Val1206Ala | Missense | 30/75 | - |
6-142758655-G-A | ADGRG6 | c.3320G>A | p.Arg1107Gln | Missense | 22/25 | - |
6-151779697-A-C | ARMT1 | c.382A>C | p.Ile128Leu | Missense | 3/5 | - |
6-151779697-A-G | ARMT1 | c.382A>G | p.Ile128Val | Missense | 3/5 | - |
19-55672055-A-G | DNAAF3 | c.1142T>C | p.Leu381Pro | Missense | 9/12 | - |
3-195517909-G-A | MUC4 | c.542C>T | p.Thr181Ile | Missense | 2/25 | - |
11-128680466-C-T | FLI1 | c.942C>T | p.Pro314Pro | Synonymous | 9/9 | - |
10-99502897-G-A | ZFYVE27 | c.244G>A | p.Val82Ile | Missense | 3/13 | - |
11-120929151-C-T | TBCEL | c.810C>T | p.Thr270Thr | Synonymous | 6/8 | - |
7-2976800-C-T | CARD11 | c.1212G>A | p.Arg404Arg | Synonymous | 9/25 | - |
12-21242854-C-A | SLCO1B7 | c.1737C>A | p.Phe579Leu | Missense | 13/13 | - |
12-21242854-C-T | SLCO1B7 | c.1737C>T | p.Phe579Phe | Synonymous | 13/13 | - |
7-38807169-C-T | VPS41 | c.1215G>A | p.Leu405Leu | Synonymous | 15/29 | - |
1-152733376-C-G | KPRP | c.1312C>G | p.Pro438Ala | Missense | 2/2 | - |
14-23549383-G-C | ACIN1 | c.1335C>G | p.Ala445Ala | Synonymous | 6/19 | - |
12-124171453-A-G | TCTN2 | c.635A>G | p.Asn212Ser | Missense | 6/18 | - |
6-36336764-G-C | ETV7 | c.749C>G | p.Ala250Gly | Missense | 6/8 | - |
6-36336764-G-A | ETV7 | c.749C>T | p.Ala250Val | Missense | 6/8 | - |
6-36336764-G-T | ETV7 | c.749C>A | p.Ala250Asp | Missense | 6/8 | - |
9-116091191-C-T | WDR31 | c.291G>A | p.Arg97Arg | Synonymous | 5/11 | - |
1-115229413-C-T | AMPD1 | c.433G>A | p.Val145Met | Missense | 4/16 | - |
3-151598469-C-A | SUCNR1 | c.138C>A | p.Tyr46* | Nonsense | 3/3 | - |
10-114053512-T-A | TECTB | c.500T>A | p.Ile167Asn | Missense | 6/11 | - |
1-100681587-A-G | DBT | c.724T>C | p.Ser242Pro | Missense | 6/11 | - |
17-73732428-G-A | ITGB4 | c.1821G>A | p.Ser607Ser | Synonymous | 15/40 | - |
11-64359274-C-A | SLC22A12 | c.246C>A | p.Asn82Lys | Missense | 1/10 | - |
3-195517909-G-T | MUC4 | c.542C>A | p.Thr181Lys | Missense | 2/25 | - |
1-203144833-G-A | MYBPH | c.51C>T | p.Thr17Thr | Synonymous | 1/11 | - |
20-20055851-G-A | CFAP61 | c.390G>A | p.Val130Val | Synonymous | 5/27 | - |
16-15797835-T-C | MYH11 | c.*154A>G | - | 3_prime_UTR_variant | 43/43 | - |
10-101294851-G-A | NKX2-3 | c.468G>A | p.Ser156Ser | Synonymous | 2/2 | - |
19-9025654-T-G | MUC16 | c.36800A>C | p.Lys12267Thr | Missense | 15/84 | - |
X-130412018-C-A | IGSF1 | c.2147G>T | p.Gly716Val | Missense | 13/20 | - |
X-130412018-C-G | IGSF1 | c.2147G>C | p.Gly716Ala | Missense | 13/20 | - |
10-78651430-G-A | KCNMA1 | c.3021C>T | p.Thr1007Thr | Synonymous | 25/27 | - |
12-72018028-A-G | ZFC3H1 | c.4362T>C | p.Cys1454Cys | Synonymous | 23/35 | - |
11-1017793-T-G | MUC6 | c.5008A>C | p.Thr1670Pro | Missense | 31/33 | - |
18-48581234-C-T | SMAD4 | c.538C>T | p.Gln180* | Nonsense | 5/12 | - |
20-44515559-G-A | SPATA25 | c.281C>T | p.Pro94Leu | Missense | 2/2 | - |
20-44515559-G-T | SPATA25 | c.281C>A | p.Pro94Gln | Missense | 2/2 | - |
3-114014600-C-T | TIGIT | c.270C>T | p.Gly90Gly | Synonymous | 2/4 | - |
7-115624439-C-T | TFEC | c.57G>A | p.Val19Val | Synonymous | 2/8 | - |
11-1093022-C-T | MUC2 | c.10325C>T | - | missense_variant | 31/51 | - |
16-816977-G-A | MSLN | c.1466G>A | p.Gly489Glu | Missense | 15/18 | - |
19-38896204-T-G | FAM98C | c.679T>G | p.Cys227Gly | Missense | 6/8 | - |
X-119048782-G-A | AKAP14 | c.382G>A | p.Val128Ile | Missense | 5/7 | - |
17-10296261-G-T | MYH8 | c.5350C>A | p.Arg1784Arg | Synonymous | 37/40 | - |
17-10296261-G-C | MYH8 | c.5350C>G | p.Arg1784Gly | Missense | 37/40 | - |
17-10296261-G-A | MYH8 | c.5350C>T | p.Arg1784Trp | Missense | 37/40 | - |
2-7018021-G-A | RSAD2 | c.90G>A | p.Pro30Pro | Synonymous | 1/6 | - |
1-159043196-C-T | AIM2 | c.94G>A | p.Glu32Lys | Missense | 2/6 | - |
1-20005661-C-A | HTR6 | c.1123C>A | p.Pro375Thr | Missense | 3/3 | - |
17-68128291-G-T | KCNJ16 | c.168G>T | - | synonymous_variant | 5/5 | - |
13-107823070-T-A | FAM155A | c.1152A>T | p.Lys384Asn | Missense | 3/3 | - |
6-139609878-G-C | TXLNB | c.159C>G | p.Pro53Pro | Synonymous | 2/10 | - |
1-221053574-A-C | HLX | c.375A>C | p.Gln125His | Missense | 1/4 | - |
9-108363426-C-T | FKTN | c.166C>T | p.Arg56Cys | Missense | 4/10 | - |
2-168104988-G-T | XIRP2 | c.7086G>T | p.Met2362Ile | Missense | 9/11 | - |
6-83938603-A-G | ME1 | c.1074T>C | p.His358His | Synonymous | 10/14 | - |
1-159043196-C-A | AIM2 | c.94G>T | p.Glu32* | Nonsense | 2/6 | - |
20-19915769-C-T | RIN2 | c.231C>T | p.Ile77Ile | Synonymous | 3/12 | - |
20-52790005-C-A | CYP24A1 | c.114G>T | p.Pro38Pro | Synonymous | 1/12 | - |
6-112671258-C-A | RFPL4B | c.348C>A | p.Ser116Arg | Missense | 3/3 | - |
2-10747392-T-A | NOL10 | c.1072A>T | p.Thr358Ser | Missense | 14/21 | - |
11-59210795-A-G | OR5A1 | c.154A>G | p.Ile52Val | Missense | 1/1 | - |
7-87746103-A-C | ADAM22 | c.581A>C | p.Glu194Ala | Missense | 7/31 | - |
19-54307322-G-T | NLRP12 | c.2469C>A | p.Leu823Leu | Synonymous | 6/10 | - |
11-59210795-A-T | OR5A1 | c.154A>T | p.Ile52Phe | Missense | 1/1 | - |
11-1018042-A-G | MUC6 | c.4759T>C | p.Ser1587Pro | Missense | 31/33 | - |
1-242023898-A-T | EXO1 | c.836A>T | p.Asn279Ile | Missense | 7/14 | - |
12-9260217-G-A | A2M | c.782C>T | p.Pro261Leu | Missense | 8/36 | - |
1-242023898-A-G | EXO1 | c.836A>G | p.Asn279Ser | Missense | 7/14 | - |
4-9828099-G-A | SLC2A9 | c.1458C>T | p.Ser486Ser | Synonymous | 13/13 | - |
20-60971397-C-T | CABLES2 | c.501G>A | p.Met167Ile | Missense | 3/10 | - |
12-91502250-A-G | LUM | c.507T>C | p.Asn169Asn | Synonymous | 2/3 | - |
2-86338249-G-A | PTCD3 | c.208G>A | p.Val70Ile | Missense | 4/24 | - |
9-36400156-C-T | RNF38 | c.1-51G>A | - | 5-UTRSNV | 1/12 | - |
10-101816863-C-T | CPN1 | c.918G>A | p.Thr306Thr | Synonymous | 6/9 | - |
10-16979606-G-T | CUBN | c.5911C>A | p.Pro1971Thr | Missense | 39/67 | - |
16-2108847-G-A | TSC2 | c.948G>A | p.Pro316Pro | Synonymous | 10/42 | - |
12-103237483-C-A | PAH | c.1140G>T | p.Thr380Thr | Synonymous | 11/13 | - |
3-133538548-A-G | SRPRB | c.754A>G | p.Arg252Gly | Missense | 8/8 | - |
12-103237483-C-T | PAH | c.1140G>A | p.Thr380Thr | Synonymous | 11/13 | - |
3-63976489-G-A | ATXN7 | c.1636G>A | p.Ala546Thr | Missense | 11/13 | - |
6-121452897-G-A | TBC1D32 | c.2775C>T | p.Asp925Asp | Synonymous | 25/32 | - |
8-145699876-G-A | FOXH1 | c.843C>T | p.Tyr281Tyr | Synonymous | 3/3 | - |
10-14896193-G-A | HSPA14 | c.804G>A | p.Ala268Ala | Synonymous | 9/14 | - |
21-34922173-A-C | SON | c.636A>C | p.Ala212Ala | Synonymous | 3/12 | - |
8-101717832-G-C | PABPC1 | c.1672C>G | p.Gln558Glu | Missense | 12/15 | - |
6-128505668-G-C | PTPRK | c.1071C>G | p.Thr357Thr | Synonymous | 7/31 | - |
6-128505668-G-A | PTPRK | c.1071C>T | p.Thr357Thr | Synonymous | 7/31 | - |
11-1016800-G-C | MUC6 | c.6001C>G | p.Pro2001Ala | Missense | 31/33 | - |
5-7897061-T-C | MTRR | c.1761T>C | p.Tyr587Tyr | Synonymous | 13/15 | - |
7-56087379-T-C | PSPH | c.189A>G | p.Thr63Thr | Synonymous | 5/8 | - |
4-146467921-A-G | SMAD1 | c.842A>G | p.Asn281Ser | Missense | 5/7 | - |
10-14896193-G-C | HSPA14 | c.804G>C | p.Ala268Ala | Synonymous | 9/14 | - |
17-53342920-G-A | HLF | c.75G>A | p.Leu25Leu | Synonymous | 1/4 | - |
17-53342920-G-C | HLF | c.75G>C | p.Leu25Leu | Synonymous | 1/4 | - |
5-34945122-A-G | DNAJC21 | c.1134A>G | p.Pro378Pro | Synonymous | 8/13 | - |