11-46774690-A-AA |
CKAP5 |
c.4877+172_4877+172dup |
- |
IntronicInsertion |
- |
36/42 |
10-115933905-C-T |
CCDC186 |
c.-193G>A |
- |
5_prime_UTR_variant |
1/16 |
- |
12-104324266-G-A |
HSP90B1 |
c.1-28G>A |
- |
5-UTRSNV |
1/18 |
- |
7-98479282-A-T |
TRRAP |
c.101-316A>T |
- |
IntronicSNV |
- |
2/70 |
20-62574016-C-T |
UCKL1 |
c.923+990G>A |
- |
IntronicSNV |
- |
8/14 |
5-153726728-G-T |
GALNT10 |
c.568+17430G>T |
- |
IntronicSNV |
- |
4/11 |
5-72174488-T-C |
TNPO1 |
c.920+1315T>C |
- |
IntronicSNV |
- |
9/24 |
11-70130159-T-C |
PPFIA1 |
c.264+11617T>C |
- |
IntronicSNV |
- |
2/27 |
5-168690635-C-T |
SLIT3 |
c.198-12172G>A |
- |
IntronicSNV |
- |
1/35 |
20-33578276-C-T |
MYH7B |
c.2103+163C>T |
- |
IntronicSNV |
- |
22/44 |
4-114028104-A-T |
ANK2 |
c.84+57136A>T |
- |
IntronicSNV |
- |
1/45 |
5-168690612-A-C |
SLIT3 |
c.198-12149T>G |
- |
IntronicSNV |
- |
1/35 |
5-168690612-A-G |
SLIT3 |
c.198-12149T>C |
- |
IntronicSNV |
- |
1/35 |
7-99691200-C-T |
MCM7 |
c.1321-176G>A |
- |
IntronicSNV |
- |
12/13 |
22-46156451-G-A |
ATXN10 |
c.1173+20033G>A |
- |
IntronicSNV |
- |
9/11 |
22-46156451-G-C |
ATXN10 |
c.1173+20033G>C |
- |
IntronicSNV |
- |
9/11 |
8-144815301-G-C |
FAM83H |
c.-16+560C>G |
- |
intron_variant |
- |
1/4 |
8-144815301-G-A |
FAM83H |
c.-16+560C>T |
- |
intron_variant |
- |
1/4 |
17-13446846-T-C |
HS3ST3A1 |
c.600-46711A>G |
- |
IntronicSNV |
- |
1/1 |
8-41128578-G-A |
SFRP1 |
c.623-5570C>T |
- |
IntronicSNV |
- |
2/2 |
5-54468166-C-T |
CDC20B |
c.126+250G>A |
- |
IntronicSNV |
- |
2/11 |
X-37883165-T-C |
SYTL5 |
c.1-9978T>C |
- |
IntronicSNV |
- |
1/16 |
19-804959-C-T |
PTBP1 |
c.717+20C>T |
- |
IntronicSNV |
- |
7/14 |
20-62550871-C-A |
DNAJC5 |
c.1-8828C>A |
- |
IntronicSNV |
- |
1/4 |
18-50763542-C-A |
DCC |
c.1911+21575C>A |
- |
IntronicSNV |
- |
12/28 |
8-117886982-C-T |
RAD21 |
c.-165G>A |
- |
5_prime_UTR_variant |
1/14 |
- |
4-39413540-G-A |
KLB |
c.825+4146G>A |
- |
IntronicSNV |
- |
1/4 |
20-62550806-G-C |
DNAJC5 |
c.1-8893G>C |
- |
IntronicSNV |
- |
1/4 |
20-62550890-C-T |
DNAJC5 |
c.1-8809C>T |
- |
IntronicSNV |
- |
1/4 |
18-53146505-G-A |
TCF4 |
c.146-15137C>T |
- |
IntronicSNV |
- |
3/19 |
1-237634431-A-G |
RYR2 |
c.1708+1944A>G |
- |
IntronicSNV |
- |
17/104 |
13-40238257-T-C |
COG6 |
c.370-976T>C |
- |
IntronicSNV |
- |
3/18 |
7-44150510-A-T |
AEBP1 |
c.1486-2A>T |
- |
IntronicSNV |
- |
12/20 |
2-220413812-A-T |
TMEM198 |
c.743-62A>T |
- |
IntronicSNV |
- |
3/4 |
2-220413812-A-C |
TMEM198 |
c.743-62A>C |
- |
IntronicSNV |
- |
3/4 |
19-4445978-T-C |
UBXN6 |
c.1200+68A>G |
- |
IntronicSNV |
- |
10/10 |
6-44403438-A-G |
CDC5L |
c.2091+5791A>G |
- |
IntronicSNV |
- |
14/15 |
9-130452968-G-T |
STXBP1 |
c.*17-86G>T |
- |
intron_variant |
- |
19/19 |
X-153996905-T-C |
DKC1 |
c.771+198T>C |
- |
IntronicSNV |
- |
8/14 |
13-41384931-G-A |
SLC25A15 |
c.*1128G>A |
- |
3-UTRSNV |
7/7 |
- |
10-100155011-T-G |
PYROXD2 |
c.727A>C |
p.Thr243Pro |
Missense |
8/16 |
- |
10-98901475-T-C |
SLIT1 |
c.413+16100A>G |
- |
IntronicSNV |
- |
4/36 |
4-115577997-C-G |
UGT8 |
c.823-7154C>G |
- |
IntronicSNV |
- |
1/4 |
4-115577997-C-A |
UGT8 |
c.823-7154C>A |
- |
IntronicSNV |
- |
1/4 |
5-36148054-G-C |
LMBRD2 |
c.-58+3604C>G |
- |
intron_variant |
- |
1/17 |
5-36148054-G-T |
LMBRD2 |
c.-58+3604C>A |
- |
intron_variant |
- |
1/17 |
16-85775275-A-G |
C16orf74 |
c.1-6452T>C |
- |
IntronicSNV |
- |
1/3 |
9-130452987-G-A |
STXBP1 |
c.*17-67G>A |
- |
intron_variant |
- |
19/19 |
16-88535341-G-A |
ZFPM1 |
c.40+15255G>A |
- |
IntronicSNV |
- |
1/9 |
2-207648009-G-A |
FASTKD2 |
c.1428-3448G>A |
- |
IntronicSNV |
- |
7/11 |
5-168690697-C-G |
SLIT3 |
c.198-12234G>C |
- |
IntronicSNV |
- |
1/35 |
15-72879653-A-G |
ARIH1 |
c.*4020A>G |
- |
IntergenicSNV |
14/14 |
- |
11-79133220-T-C |
TENM4 |
c.-321+18333A>G |
- |
intron_variant |
- |
1/33 |
1-65045551-C-A |
CACHD1 |
c.262-2288C>A |
- |
intron_variant |
- |
2/26 |
9-20411221-G-A |
MLLT3 |
c.1125+2498C>T |
- |
IntronicSNV |
- |
5/10 |
1-65045551-C-T |
CACHD1 |
c.262-2288C>T |
- |
intron_variant |
- |
2/26 |
4-1988144-C-A |
NELFA |
c.635-15G>T |
- |
intron_variant |
- |
4/10 |
8-41128605-T-C |
SFRP1 |
c.623-5597A>G |
- |
IntronicSNV |
- |
2/2 |
20-61918164-C-G |
ARFGAP1 |
c.911+370C>G |
- |
IntronicSNV |
- |
12/12 |
3-48681684-G-A |
CELSR3 |
c.8130C>T |
p.Ser2710Ser |
Synonymous |
27/35 |
- |
20-61918164-C-T |
ARFGAP1 |
c.911+370C>T |
- |
IntronicSNV |
- |
12/12 |
X-109325380-A-G |
TMEM164 |
c.440+14756A>G |
- |
IntronicSNV |
- |
3/6 |
9-20411192-A-G |
MLLT3 |
c.1125+2527T>C |
- |
IntronicSNV |
- |
5/10 |
11-79133239-G-A |
TENM4 |
c.-321+18314C>T |
- |
intron_variant |
- |
1/33 |
15-34820530-T-C |
GOLGA8B |
c.1353-40A>G |
- |
IntronicSNV |
- |
21/23 |
10-24564653-C-T |
KIAA1217 |
c.354+55815C>T |
- |
IntronicSNV |
- |
2/20 |
10-24564653-C-A |
KIAA1217 |
c.354+55815C>A |
- |
IntronicSNV |
- |
2/20 |
20-33054223-A-G |
ITCH |
c.1548-3630A>G |
- |
IntronicSNV |
- |
15/25 |
20-33054223-A-C |
ITCH |
c.1548-3630A>C |
- |
IntronicSNV |
- |
15/25 |
10-127508356-T-G |
UROS |
c.-27+3242A>C |
- |
intron_variant |
- |
1/9 |
10-115933913-T-G |
CCDC186 |
c.-201A>C |
- |
5_prime_UTR_variant |
1/16 |
- |
1-170120575-T-G |
METTL11B |
c.154+5173T>G |
- |
IntronicSNV |
- |
1/3 |
5-132763351-A-C |
FSTL4 |
c.161-26673T>G |
- |
IntronicSNV |
- |
3/15 |
1-32552592-T-C |
TMEM39B |
c.591-4684T>C |
- |
IntronicSNV |
- |
5/8 |
1-32552592-T-G |
TMEM39B |
c.591-4684T>G |
- |
IntronicSNV |
- |
5/8 |
10-131641629-C-T |
EBF3 |
c.1102-163G>A |
- |
IntronicSNV |
- |
11/15 |
18-46196977-C-T |
CTIF |
c.432-63C>T |
- |
IntronicSNV |
- |
5/11 |
14-65511418-G-A |
CHURC1-FNTB |
c.817+257G>A |
- |
IntronicSNV |
- |
10/12 |
1-117102649-C-T |
CD58 |
c.70+10876G>A |
- |
IntronicSNV |
- |
1/5 |
7-43190538-G-A |
HECW1 |
c.-32+36548G>A |
- |
intron_variant |
- |
2/29 |
2-189162305-G-C |
GULP1 |
c.-172+5412G>C |
- |
intron_variant |
- |
1/11 |
1-201777751-G-A |
NAV1 |
c.4038+13G>A |
- |
IntronicSNV |
- |
19/29 |
7-102111970-C-T |
LRWD1 |
c.1443-695C>T |
- |
IntronicSNV |
- |
11/14 |
18-13459950-A-G |
LDLRAD4 |
c.181+21567A>G |
- |
IntronicSNV |
- |
3/5 |
10-12172775-G-A |
SEC61A2 |
c.7+982G>A |
- |
IntronicSNV |
- |
1/11 |
8-9599276-G-A |
TNKS |
c.2644-6258G>A |
- |
IntronicSNV |
- |
17/26 |
3-189547779-G-A |
TP63 |
c.579+21464G>A |
- |
IntronicSNV |
- |
4/13 |
3-189547779-G-C |
TP63 |
c.579+21464G>C |
- |
IntronicSNV |
- |
4/13 |
3-189547779-G-T |
TP63 |
c.579+21464G>T |
- |
IntronicSNV |
- |
4/13 |
1-167967958-A-G |
DCAF6 |
c.904-3762A>G |
- |
IntronicSNV |
- |
7/19 |
11-19781622-T-C |
NAV2 |
c.267+46114T>C |
- |
IntronicSNV |
- |
1/37 |
2-47604893-T-C |
EPCAM |
c.555+677T>C |
- |
IntronicSNV |
- |
5/8 |
7-102106265-C-T |
LRWD1 |
c.82C>T |
p.Leu28Leu |
Synonymous |
2/15 |
- |
11-36031753-G-A |
LDLRAD3 |
c.47-25900G>A |
- |
IntronicSNV |
- |
1/5 |
5-133561535-G-A |
PPP2CA |
c.18C>T |
p.Phe6Phe |
Synonymous |
1/7 |
- |
5-53247386-C-T |
ARL15 |
c.463-64843G>A |
- |
IntronicSNV |
- |
4/4 |
7-132719655-G-C |
CHCHD3 |
c.170-10268C>G |
- |
IntronicSNV |
- |
2/7 |
20-45795618-G-A |
EYA2 |
c.979-2169G>A |
- |
IntronicSNV |
- |
10/15 |
6-30858690-G-GG |
DDR1 |
c.418-60_418-60dup |
- |
IntronicInsertion |
- |
3/16 |
17-67095769-C-T |
ABCA6 |
c.3012+1169G>A |
- |
IntronicSNV |
- |
22/38 |
16-83541991-C-T |
CDH13 |
c.960+21731C>T |
- |
IntronicSNV |
- |
7/13 |
11-48118374-A-T |
PTPRJ |
c.97-13236A>T |
- |
IntronicSNV |
- |
1/8 |
4-99918550-C-G |
METAP1 |
c.114+1532C>G |
- |
IntronicSNV |
- |
1/10 |
19-804963-G-A |
PTBP1 |
c.717+24G>A |
- |
IntronicSNV |
- |
7/14 |
11-48118349-A-AA |
PTPRJ |
c.97-13261_97-13261dup |
- |
IntronicInsertion |
- |
1/8 |
5-85916322-G-A |
COX7C |
c.*28-163G>A |
- |
intron_variant |
- |
2/2 |
2-240007544-C-T |
HDAC4 |
c.2430-1606G>A |
- |
IntronicSNV |
- |
19/26 |
1-151518284-T-G |
TUFT1 |
c.60+5382T>G |
- |
IntronicSNV |
- |
1/12 |
17-29861987-C-T |
RAB11FIP4 |
c.*3237C>T |
- |
3-UTRSNV |
15/15 |
- |
14-65511486-G-T |
CHURC1-FNTB |
c.817+325G>T |
- |
IntronicSNV |
- |
10/12 |
15-93447674-A-T |
CHD2 |
c.62+3145A>T |
- |
IntronicSNV |
- |
2/38 |
1-33798031-G-C |
PHC2 |
c.1759-26C>G |
- |
IntronicSNV |
- |
9/13 |
15-93447674-A-G |
CHD2 |
c.62+3145A>G |
- |
IntronicSNV |
- |
2/38 |
11-36031695-C-T |
LDLRAD3 |
c.47-25958C>T |
- |
IntronicSNV |
- |
1/5 |
11-36031695-C-A |
LDLRAD3 |
c.47-25958C>A |
- |
IntronicSNV |
- |
1/5 |
12-104985443-G-A |
CHST11 |
c.119-10241G>A |
- |
IntronicSNV |
- |
1/2 |
12-57588323-C-T |
LRP1 |
c.8068+37C>T |
- |
IntronicSNV |
- |
49/88 |
12-57588323-C-A |
LRP1 |
c.8068+37C>A |
- |
IntronicSNV |
- |
49/88 |
5-132763335-A-C |
FSTL4 |
c.161-26657T>G |
- |
IntronicSNV |
- |
3/15 |
19-47212593-A-G |
PRKD2 |
c.511+1571T>C |
- |
IntronicSNV |
- |
3/17 |
5-132763335-A-T |
FSTL4 |
c.161-26657T>A |
- |
IntronicSNV |
- |
3/15 |
12-128778686-C-A |
TMEM132C |
c.85+26654C>A |
- |
IntronicSNV |
- |
1/8 |
18-47013790-C-T |
RPL17-C18orf32 |
c.507+1939G>A |
- |
IntronicSNV |
- |
5/6 |
X-1412821-C-G |
CSF2RA |
c.647-400C>G |
- |
IntronicSNV |
- |
8/13 |
X-113997746-G-A |
HTR2C |
c.349+31730G>A |
- |
IntronicSNV |
- |
4/5 |
4-8007104-G-C |
ABLIM2 |
c.1618+2682C>G |
- |
IntronicSNV |
- |
16/20 |
18-6374387-A-C |
L3MBTL4 |
c.-91+40413T>G |
- |
intron_variant |
- |
1/19 |
19-47212593-A-T |
PRKD2 |
c.511+1571T>A |
- |
IntronicSNV |
- |
3/17 |
1-233759918-T-C |
KCNK1 |
c.355+9646T>C |
- |
IntronicSNV |
- |
1/2 |
1-224585958-A-C |
WDR26 |
c.1645-30T>G |
- |
IntronicSNV |
- |
11/13 |
1-23046083-C-T |
EPHB2 |
c.61+8547C>T |
- |
IntronicSNV |
- |
1/15 |
3-183959219-T-A |
VWA5B2 |
c.3180+27T>A |
- |
IntronicSNV |
- |
18/18 |
4-7461826-C-CACC |
SORCS2 |
c.548+63744_548+63745insACC |
- |
IntronicInsertion |
- |
2/26 |
9-131007001-C-T |
DNM1 |
c.1672-1672C>T |
- |
IntronicSNV |
- |
15/21 |
2-132248740-C-G |
MZT2A |
c.319+709G>C |
- |
IntronicSNV |
- |
2/2 |
2-132248740-C-T |
MZT2A |
c.319+709G>A |
- |
IntronicSNV |
- |
2/2 |
15-99327719-A-G |
IGF1R |
c.640+76383A>G |
- |
IntronicSNV |
- |
2/20 |
22-29729163-C-A |
AP1B1 |
c.2309+1091G>T |
- |
IntronicSNV |
- |
17/22 |
17-79099125-G-A |
AATK |
c.447-311C>T |
- |
IntronicSNV |
- |
6/12 |
17-79099125-G-C |
AATK |
c.447-311C>G |
- |
IntronicSNV |
- |
6/12 |
9-139781254-C-T |
TRAF2 |
c.-29+261C>T |
- |
intron_variant |
- |
1/10 |
2-32860356-C-G |
TTC27 |
c.396+1284C>G |
- |
IntronicSNV |
- |
3/19 |
17-79099122-C-A |
AATK |
c.447-308G>T |
- |
IntronicSNV |
- |
6/12 |
4-1988116-G-A |
NELFA |
c.648C>T |
- |
synonymous_variant |
5/11 |
- |
20-61870162-A-C |
BIRC7 |
c.577+196A>C |
- |
IntronicSNV |
- |
4/6 |
5-14826085-C-T |
ANKH |
c.96+45376G>A |
- |
IntronicSNV |
- |
1/11 |
9-131007001-C-G |
DNM1 |
c.1672-1672C>G |
- |
IntronicSNV |
- |
15/21 |
22-46156404-C-G |
ATXN10 |
c.1173+19986C>G |
- |
IntronicSNV |
- |
9/11 |
10-98901444-G-C |
SLIT1 |
c.413+16131C>G |
- |
IntronicSNV |
- |
4/36 |
17-29861933-G-A |
RAB11FIP4 |
c.*3183G>A |
- |
3-UTRSNV |
15/15 |
- |
4-8007066-C-T |
ABLIM2 |
c.1618+2720G>A |
- |
IntronicSNV |
- |
16/20 |
12-120151493-T-G |
CIT |
c.4181-40A>C |
- |
IntronicSNV |
- |
32/46 |
12-120151493-T-C |
CIT |
c.4181-40A>G |
- |
IntronicSNV |
- |
32/46 |
3-55886574-A-T |
ERC2 |
c.2564+35843T>A |
- |
IntronicSNV |
- |
14/17 |
1-53400625-C-T |
SCP2 |
c.70-6843C>T |
- |
IntronicSNV |
- |
1/15 |
8-100548917-C-T |
VPS13B |
c.4820+15679C>T |
- |
IntronicSNV |
- |
30/61 |
4-7461827-C-CCAC |
SORCS2 |
c.548+63745_548+63746insCAC |
- |
IntronicInsertion |
- |
2/26 |
10-35368561-C-A |
CUL2 |
c.1-8316G>T |
- |
IntronicSNV |
- |
1/20 |
13-98860827-G-C |
FARP1 |
c.1-4670G>C |
- |
IntronicSNV |
- |
1/26 |
1-154948192-T-C |
CKS1B |
c.59+912T>C |
- |
IntronicSNV |
- |
1/2 |
10-98901459-G-A |
SLIT1 |
c.413+16116C>T |
- |
IntronicSNV |
- |
4/36 |
4-113569680-C-T |
LARP7 |
c.1142+690C>T |
- |
IntronicSNV |
- |
8/12 |
2-103048780-C-T |
IL18RAP |
c.580-4892C>T |
- |
IntronicSNV |
- |
5/11 |
2-47604866-C-T |
EPCAM |
c.555+650C>T |
- |
IntronicSNV |
- |
5/8 |
10-126721419-T-C |
CTBP2 |
c.58+6147A>G |
- |
IntronicSNV |
- |
3/10 |
2-11680759-A-G |
GREB1 |
c.-162+6379A>G |
- |
intron_variant |
- |
1/32 |
10-98901459-G-T |
SLIT1 |
c.413+16116C>A |
- |
IntronicSNV |
- |
4/36 |
10-53059349-A-G |
PRKG1 |
c.433+146259A>G |
- |
IntronicSNV |
- |
2/17 |
4-113569207-G-A |
LARP7 |
c.1142+217G>A |
- |
IntronicSNV |
- |
8/12 |
4-113569207-G-T |
LARP7 |
c.1142+217G>T |
- |
IntronicSNV |
- |
8/12 |
2-69330824-G-A |
ANTXR1 |
c.802+752G>A |
- |
IntronicSNV |
- |
10/17 |
2-132248740-C-A |
MZT2A |
c.319+709G>T |
- |
IntronicSNV |
- |
2/2 |
10-127508379-G-A |
UROS |
c.-27+3219C>T |
- |
intron_variant |
- |
1/9 |
2-54076326-T-C |
GPR75-ASB3 |
c.101+10639A>G |
- |
IntronicSNV |
- |
1/9 |
13-115010026-G-A |
CDC16 |
c.768-339G>A |
- |
IntronicSNV |
- |
8/18 |
7-102046219-C-T |
PRKRIP1 |
c.392+1089C>T |
- |
IntronicSNV |
- |
4/5 |
7-99691652-C-T |
MCM7 |
c.1320+144G>A |
- |
IntronicSNV |
- |
12/13 |
7-99691652-C-A |
MCM7 |
c.1320+144G>T |
- |
IntronicSNV |
- |
12/13 |
12-109230729-G-A |
SSH1 |
c.111-13592C>T |
- |
IntronicSNV |
- |
2/14 |
10-105978581-C-G |
CFAP43 |
c.417-4397G>C |
- |
IntronicSNV |
- |
3/37 |
3-123851830-A-G |
KALRN |
c.67+38079A>G |
- |
IntronicSNV |
- |
1/33 |
12-109230729-G-T |
SSH1 |
c.111-13592C>A |
- |
IntronicSNV |
- |
2/14 |
5-168690664-C-G |
SLIT3 |
c.198-12201G>C |
- |
IntronicSNV |
- |
1/35 |
9-36893504-G-A |
PAX5 |
c.910+29848C>T |
- |
IntronicSNV |
- |
7/8 |
16-67236292-C-T |
ELMO3 |
c.1262-8C>T |
- |
splice_region_variant,intron_variant |
- |
13/19 |
1-241295617-G-A |
RGS7 |
c.79-33555C>T |
- |
IntronicSNV |
- |
2/17 |
10-115923237-G-C |
CCDC186 |
c.1-210C>G |
- |
IntronicSNV |
1/16 |
- |
22-20073323-C-G |
DGCR8 |
c.1-164C>G |
- |
5-UTRSNV |
2/13 |
- |
3-50210836-C-T |
SEMA3F |
c.113-390C>T |
- |
IntronicSNV |
- |
2/18 |
17-13446924-G-A |
HS3ST3A1 |
c.600-46789C>T |
- |
IntronicSNV |
- |
1/1 |
2-240227178-C-T |
HDAC4 |
c.22+47195G>A |
- |
IntronicSNV |
- |
2/26 |
1-201688732-C-T |
NAV1 |
c.1226+849C>T |
- |
IntronicSNV |
- |
3/29 |
4-343998-T-C |
ZNF141 |
c.226+5779T>C |
- |
IntronicSNV |
- |
3/3 |
22-20236701-C-A |
RTN4R |
c.23-6068G>T |
- |
IntronicSNV |
- |
1/1 |
6-157950175-G-T |
ZDHHC14 |
c.246-13442G>T |
- |
IntronicSNV |
- |
1/8 |
X-109325434-C-T |
TMEM164 |
c.440+14810C>T |
- |
IntronicSNV |
- |
3/6 |
11-94199710-C-A |
MRE11 |
c.1098+1269G>T |
- |
IntronicSNV |
- |
10/19 |
8-41128620-C-T |
SFRP1 |
c.623-5612G>A |
- |
IntronicSNV |
- |
2/2 |
20-33578202-G-A |
MYH7B |
c.2103+89G>A |
- |
IntronicSNV |
- |
22/44 |
10-112657881-A-T |
PDCD4 |
c.*35A>T |
- |
3-UTRSNV |
12/12 |
- |
5-92956422-G-T |
FAM172A |
c.*271C>A |
- |
3-UTRSNV |
11/11 |
- |
9-95290277-G-C |
CENPP |
c.565-83319G>C |
- |
IntronicSNV |
- |
5/7 |
9-95290277-G-A |
CENPP |
c.565-83319G>A |
- |
IntronicSNV |
- |
5/7 |
12-120151527-C-T |
CIT |
c.4181-74G>A |
- |
IntronicSNV |
- |
32/46 |
9-126164871-C-A |
DENND1A |
c.1578-680G>T |
- |
IntronicSNV |
- |
20/20 |
9-126164871-C-G |
DENND1A |
c.1578-680G>C |
- |
IntronicSNV |
- |
20/20 |
2-241395500-A-G |
GPC1 |
c.167-2947A>G |
- |
IntronicSNV |
- |
1/8 |
11-61559981-C-T |
TMEM258 |
c.3+47G>A |
- |
IntronicSNV |
- |
1/3 |
4-113569695-T-G |
LARP7 |
c.1142+705T>G |
- |
IntronicSNV |
- |
8/12 |
11-94199691-T-G |
MRE11 |
c.1098+1288A>C |
- |
IntronicSNV |
- |
10/19 |
11-94199691-T-C |
MRE11 |
c.1098+1288A>G |
- |
IntronicSNV |
- |
10/19 |
20-61151515-G-A |
MIR1-1HG |
c.8+643G>A |
- |
IntronicSNV |
- |
2/3 |
17-35391051-G-A |
AATF |
c.1619+2069G>A |
- |
IntronicSNV |
- |
11/11 |
5-92956422-G-C |
FAM172A |
c.*271C>G |
- |
3-UTRSNV |
11/11 |
- |
20-61870167-C-A |
BIRC7 |
c.577+201C>A |
- |
IntronicSNV |
- |
4/6 |
9-126164871-C-T |
DENND1A |
c.1578-680G>A |
- |
IntronicSNV |
- |
20/20 |
2-189997816-C-G |
COL5A2 |
c.98-22641G>C |
- |
IntronicSNV |
- |
1/53 |
9-18573374-G-T |
ADAMTSL1 |
c.238-654G>T |
- |
IntronicSNV |
- |
3/28 |
5-134263765-C-T |
PCBD2 |
c.216+17609C>T |
- |
IntronicSNV |
- |
2/3 |
1-17604454-G-A |
PADI3 |
c.1555+1083G>A |
- |
IntronicSNV |
- |
13/15 |
8-117886991-T-G |
RAD21 |
c.-174A>C |
- |
5_prime_UTR_variant |
1/14 |
- |
18-6374394-A-G |
L3MBTL4 |
c.-91+40406T>C |
- |
intron_variant |
- |
1/19 |
2-239990549-T-C |
HDAC4 |
c.2736-246A>G |
- |
IntronicSNV |
- |
22/26 |
7-73605599-C-T |
EIF4H |
c.469+963C>T |
- |
IntronicSNV |
- |
5/6 |
11-94199735-A-T |
MRE11 |
c.1098+1244T>A |
- |
IntronicSNV |
- |
10/19 |
2-97464057-C-T |
CNNM4 |
c.1681+673C>T |
- |
IntronicSNV |
- |
3/6 |
7-114293468-G-A |
FOXP2 |
c.1183-513G>A |
- |
IntronicSNV |
- |
9/16 |
19-46178217-G-A |
GIPR |
c.633+133G>A |
- |
IntronicSNV |
- |
7/13 |
14-65511443-C-A |
CHURC1-FNTB |
c.817+282C>A |
- |
IntronicSNV |
- |
10/12 |
1-167967904-G-C |
DCAF6 |
c.904-3816G>C |
- |
IntronicSNV |
- |
7/19 |
1-167967904-G-A |
DCAF6 |
c.904-3816G>A |
- |
IntronicSNV |
- |
7/19 |
7-73605578-A-G |
EIF4H |
c.469+942A>G |
- |
IntronicSNV |
- |
5/6 |
3-170824453-A-C |
TNIK |
c.2406+519T>G |
- |
IntronicSNV |
- |
21/32 |
5-140027435-C-T |
IK |
c.1-59C>T |
- |
5-UTRSNV |
1/20 |
- |
1-154948195-G-C |
CKS1B |
c.59+915G>C |
- |
IntronicSNV |
- |
1/2 |
18-70520606-G-A |
NETO1 |
c.466+5455C>T |
- |
IntronicSNV |
- |
4/4 |
11-48118365-T-G |
PTPRJ |
c.97-13245T>G |
- |
IntronicSNV |
- |
1/8 |
18-70520606-G-T |
NETO1 |
c.466+5455C>A |
- |
IntronicSNV |
- |
4/4 |
1-209796849-C-G |
LAMB3 |
c.2358+1G>C |
- |
IntronicSNV |
- |
16/22 |
19-50436371-G-A |
ATF5 |
c.*22G>A |
- |
3-UTRSNV |
3/3 |
- |
10-105807909-C-T |
COL17A1 |
c.2228-47G>A |
- |
IntronicSNV |
- |
29/55 |
4-40504123-T-C |
RBM47 |
c.-155+13761A>G |
- |
intron_variant |
- |
1/4 |
3-10436194-C-G |
ATP2B2 |
c.782-6108G>C |
- |
IntronicSNV |
- |
5/19 |
10-115923237-G-A |
CCDC186 |
c.1-210C>T |
- |
IntronicSNV |
1/16 |
- |
3-15537764-C-A |
COLQ |
c.107-6620G>T |
- |
IntronicSNV |
- |
1/16 |
6-30858714-C-A |
DDR1 |
c.418-36C>A |
- |
IntronicSNV |
- |
3/16 |
14-65511421-G-T |
CHURC1-FNTB |
c.817+260G>T |
- |
IntronicSNV |
- |
10/12 |
9-20411214-A-G |
MLLT3 |
c.1125+2505T>C |
- |
IntronicSNV |
- |
5/10 |
15-35664559-C-A |
DPH6 |
c.751-155G>T |
- |
IntronicSNV |
- |
8/8 |
7-102106224-A-G |
LRWD1 |
c.81-40A>G |
- |
IntronicSNV |
- |
1/14 |
17-29861988-G-A |
RAB11FIP4 |
c.*3238G>A |
- |
3-UTRSNV |
15/15 |
- |
15-49461330-G-A |
GALK2 |
c.20+13117G>A |
- |
IntronicSNV |
- |
1/9 |
10-115923237-G-T |
CCDC186 |
c.1-210C>A |
- |
IntronicSNV |
1/16 |
- |
5-92956420-C-T |
FAM172A |
c.*273G>A |
- |
3-UTRSNV |
11/11 |
- |
12-104985443-G-C |
CHST11 |
c.119-10241G>C |
- |
IntronicSNV |
- |
1/2 |
9-139781193-G-A |
TRAF2 |
c.-29+200G>A |
- |
intron_variant |
- |
1/10 |
9-139781193-G-T |
TRAF2 |
c.-29+200G>T |
- |
intron_variant |
- |
1/10 |
10-131641576-G-A |
EBF3 |
c.1102-110C>T |
- |
IntronicSNV |
- |
11/15 |
5-54466362-T-C |
CDC20B |
c.126+2054A>G |
- |
IntronicSNV |
- |
2/11 |
11-118889714-G-A |
TRAPPC4 |
c.175+34G>A |
- |
IntronicSNV |
- |
1/4 |
2-207647981-C-T |
FASTKD2 |
c.1428-3476C>T |
- |
IntronicSNV |
- |
7/11 |
5-92956420-C-G |
FAM172A |
c.*273G>C |
- |
3-UTRSNV |
11/11 |
- |
2-54076276-C-T |
GPR75-ASB3 |
c.101+10689G>A |
- |
IntronicSNV |
- |
1/9 |
20-62551160-G-A |
DNAJC5 |
c.1-8539G>A |
- |
IntronicSNV |
- |
1/4 |
9-20411169-G-A |
MLLT3 |
c.1125+2550C>T |
- |
IntronicSNV |
- |
5/10 |
2-69330825-A-T |
ANTXR1 |
c.802+753A>T |
- |
IntronicSNV |
- |
10/17 |
7-2566764-T-C |
LFNG |
c.687-16T>C |
- |
IntronicSNV |
- |
8/8 |
3-47891117-T-C |
DHX30 |
c.3192-3T>C |
- |
IntronicSNV |
- |
20/21 |
15-31357301-C-T |
TRPM1 |
c.724+978G>A |
- |
IntronicSNV |
- |
6/26 |
16-88535359-C-T |
ZFPM1 |
c.40+15273C>T |
- |
IntronicSNV |
- |
1/9 |
17-66420592-A-T |
WIPI1 |
c.1293+1624T>A |
- |
IntronicSNV |
- |
12/12 |
7-127721971-G-T |
SND1 |
c.2110+418G>T |
- |
IntronicSNV |
- |
18/23 |
1-100746814-A-G |
RTCA |
c.838+3942A>G |
- |
IntronicSNV |
- |
9/11 |
2-47604893-T-A |
EPCAM |
c.555+677T>A |
- |
IntronicSNV |
- |
5/8 |
8-104166904-CC-CCCC |
BAALC |
c.160+13619_160+13620dup |
- |
IntronicInsertion |
- |
1/1 |
6-166922916-A-G |
RPS6KA2 |
c.379+849T>C |
- |
IntronicSNV |
- |
4/20 |
3-197401371-C-T |
RUBCN |
c.*518G>A |
- |
3-UTRSNV |
21/21 |
- |
12-47581629-T-C |
PCED1B |
c.-525-28376T>C |
- |
intron_variant |
- |
2/3 |
8-101036259-A-G |
RGS22 |
c.2166+14900T>C |
- |
IntronicSNV |
- |
14/27 |
13-98860808-T-C |
FARP1 |
c.1-4689T>C |
- |
IntronicSNV |
- |
1/26 |
9-137271318-C-A |
RXRA |
c.29-22160C>A |
- |
IntronicSNV |
- |
1/9 |
19-50436371-G-C |
ATF5 |
c.*22G>C |
- |
3-UTRSNV |
3/3 |
- |
7-150935562-T-C |
CHPF2 |
c.2114T>C |
p.Met705Thr |
Missense |
4/4 |
- |
14-65511429-G-A |
CHURC1-FNTB |
c.817+268G>A |
- |
IntronicSNV |
- |
10/12 |
19-10341137-G-A |
S1PR2 |
c.-43+743C>T |
- |
intron_variant |
- |
1/1 |
10-112657849-A-G |
PDCD4 |
c.*3A>G |
- |
3-UTRSNV |
12/12 |
- |
10-112657849-A-C |
PDCD4 |
c.*3A>C |
- |
3-UTRSNV |
12/12 |
- |
13-98860808-T-G |
FARP1 |
c.1-4689T>G |
- |
IntronicSNV |
- |
1/26 |
2-239990528-G-T |
HDAC4 |
c.2736-225C>A |
- |
IntronicSNV |
- |
22/26 |
17-62497426-C-T |
DDX5 |
c.1217-535G>A |
- |
IntronicSNV |
- |
11/12 |
13-98860816-C-G |
FARP1 |
c.1-4681C>G |
- |
IntronicSNV |
- |
1/26 |
17-46233806-A-G |
SKAP1 |
c.978+6025T>C |
- |
IntronicSNV |
- |
11/12 |
10-53059356-A-G |
PRKG1 |
c.433+146266A>G |
- |
IntronicSNV |
- |
2/17 |
5-168195174-G-A |
SLIT3 |
c.1459+4612C>T |
- |
IntronicSNV |
- |
14/35 |
5-54468150-A-G |
CDC20B |
c.126+266T>C |
- |
IntronicSNV |
- |
2/11 |
14-55344901-C-T |
GCH1 |
c.344-12747G>A |
- |
IntronicSNV |
- |
1/5 |
2-189997834-G-A |
COL5A2 |
c.98-22659C>T |
- |
IntronicSNV |
- |
1/53 |
1-3044591-G-A |
PRDM16 |
c.38-58098G>A |
- |
IntronicSNV |
- |
1/16 |
14-101351088-A-C |
RTL1 |
c.38T>G |
p.Met13Arg |
Missense |
1/1 |
- |
8-92217753-G-A |
LRRC69 |
c.933+4733G>A |
- |
IntronicSNV |
- |
7/7 |
15-42491848-A-C |
VPS39 |
c.139+246T>G |
- |
IntronicSNV |
- |
2/24 |
11-10529822-A-G |
MTRNR2L8 |
c.1-49T>C |
- |
5-UTRSNV |
1/1 |
- |
14-94414575-C-T |
ASB2 |
c.881-709G>A |
- |
IntronicSNV |
- |
6/9 |
1-201688733-G-A |
NAV1 |
c.1226+850G>A |
- |
IntronicSNV |
- |
3/29 |
2-208619555-G-A |
CCNYL1 |
c.*1133G>A |
- |
3-UTRSNV |
11/11 |
- |
1-33798091-A-G |
PHC2 |
c.1759-86T>C |
- |
IntronicSNV |
- |
9/13 |
10-35930124-G-T |
FZD8 |
c.234C>A |
p.Ile78Ile |
Synonymous |
1/1 |
- |
11-9111905-G-A |
SCUBE2 |
c.134-529C>T |
- |
IntronicSNV |
- |
1/21 |
16-28855297-T-C |
TUFM |
c.1048A>G |
p.Lys350Glu |
Missense |
8/10 |
- |
2-32860335-C-T |
TTC27 |
c.396+1263C>T |
- |
IntronicSNV |
- |
3/19 |
11-113320747-G-C |
DRD2 |
c.-32+25051C>G |
- |
intron_variant |
- |
1/7 |
19-10514159-G-C |
CDC37 |
c.1-4C>G |
- |
5-UTRSNV |
1/8 |
- |
19-4932737-C-T |
UHRF1 |
c.570-16C>T |
- |
IntronicSNV |
- |
4/17 |
11-9111905-G-C |
SCUBE2 |
c.134-529C>G |
- |
IntronicSNV |
- |
1/21 |
11-61560026-A-T |
TMEM258 |
c.3+2T>A |
- |
IntronicSNV |
- |
1/3 |
11-61560026-A-C |
TMEM258 |
c.3+2T>G |
- |
IntronicSNV |
- |
1/3 |
11-34963416-T-C |
PDHX |
c.242-5637T>C |
- |
IntronicSNV |
- |
2/10 |
12-128778703-G-A |
TMEM132C |
c.85+26671G>A |
- |
IntronicSNV |
- |
1/8 |
7-102046217-A-G |
PRKRIP1 |
c.392+1087A>G |
- |
IntronicSNV |
- |
4/5 |
4-113569088-A-G |
LARP7 |
c.1142+98A>G |
- |
IntronicSNV |
- |
8/12 |
5-92956409-G-A |
FAM172A |
c.*284C>T |
- |
3-UTRSNV |
11/11 |
- |
1-234442257-A-T |
SLC35F3 |
c.609-2590A>T |
- |
IntronicSNV |
- |
3/7 |
19-2234093-C-T |
PLEKHJ1 |
c.321-33G>A |
- |
IntronicSNV |
- |
4/5 |
13-41384997-C-G |
SLC25A15 |
c.*1194C>G |
- |
3-UTRSNV |
7/7 |
- |
18-47652874-T-C |
MYO5B |
c.27+68263A>G |
- |
IntronicSNV |
- |
1/39 |
2-54076332-T-C |
GPR75-ASB3 |
c.101+10633A>G |
- |
IntronicSNV |
- |
1/9 |
3-194855248-C-T |
XXYLT1 |
c.785+21930G>A |
- |
IntronicSNV |
- |
3/3 |
9-114694395-G-C |
UGCG |
c.825-55G>C |
- |
IntronicSNV |
- |
7/8 |
9-114694395-G-A |
UGCG |
c.825-55G>A |
- |
IntronicSNV |
- |
7/8 |
1-10287824-C-T |
KIF1B |
c.1-4563C>T |
- |
IntronicSNV |
- |
1/46 |
11-10529848-C-A |
MTRNR2L8 |
c.1-75G>T |
- |
5-UTRSNV |
1/1 |
- |
9-20716104-T-A |
FOCAD |
c.57+695T>A |
- |
IntronicSNV |
- |
4/45 |
9-20716104-T-C |
FOCAD |
c.57+695T>C |
- |
IntronicSNV |
- |
4/45 |
11-10529848-C-T |
MTRNR2L8 |
c.1-75G>A |
- |
5-UTRSNV |
1/1 |
- |
20-62551278-G-A |
DNAJC5 |
c.1-8421G>A |
- |
IntronicSNV |
- |
1/4 |
7-1062574-G-C |
C7orf50 |
c.130-12795C>G |
- |
IntronicSNV |
- |
2/4 |
1-154948201-G-T |
CKS1B |
c.59+921G>T |
- |
IntronicSNV |
- |
1/2 |
5-132763351-A-T |
FSTL4 |
c.161-26673T>A |
- |
IntronicSNV |
- |
3/15 |
7-102111923-G-A |
LRWD1 |
c.1443-742G>A |
- |
IntronicSNV |
- |
11/14 |
4-102251501-T-C |
PPP3CA |
c.58+16395A>G |
- |
IntronicSNV |
- |
1/13 |
3-123851818-G-A |
KALRN |
c.67+38067G>A |
- |
IntronicSNV |
- |
1/33 |
7-102106234-G-A |
LRWD1 |
c.81-30G>A |
- |
IntronicSNV |
- |
1/14 |
3-49311587-G-A |
C3orf62 |
c.447-14C>T |
- |
IntronicSNV |
- |
1/2 |
10-12172800-G-A |
SEC61A2 |
c.7+1007G>A |
- |
IntronicSNV |
- |
1/11 |
1-236016301-C-A |
LYST |
c.-98+13842G>T |
- |
intron_variant |
- |
1/52 |
10-12172800-G-T |
SEC61A2 |
c.7+1007G>T |
- |
IntronicSNV |
- |
1/11 |
5-118490368-G-A |
DMXL1 |
c.4702+2637G>A |
- |
IntronicSNV |
- |
19/42 |
1-236016301-C-T |
LYST |
c.-98+13842G>A |
- |
intron_variant |
- |
1/52 |
1-236016301-C-G |
LYST |
c.-98+13842G>C |
- |
intron_variant |
- |
1/52 |
18-46196971-G-C |
CTIF |
c.432-69G>C |
- |
IntronicSNV |
- |
5/11 |
10-100155013-G-A |
PYROXD2 |
c.725C>T |
p.Ala242Val |
Missense |
8/16 |
- |
2-189162305-G-T |
GULP1 |
c.-172+5412G>T |
- |
intron_variant |
- |
1/11 |
16-593277-T-G |
CAPN15 |
c.1-3562T>G |
- |
IntronicSNV |
- |
3/13 |
1-220291206-C-A |
IARS2 |
c.1640+3390C>A |
- |
IntronicSNV |
- |
12/22 |
11-1880710-T-C |
LSP1 |
c.53+6283T>C |
- |
IntronicSNV |
- |
1/10 |
7-43190561-G-A |
HECW1 |
c.-32+36571G>A |
- |
intron_variant |
- |
2/29 |
11-94199711-G-A |
MRE11 |
c.1098+1268C>T |
- |
IntronicSNV |
- |
10/19 |
6-119390263-G-C |
FAM184A |
c.159+9043C>G |
- |
IntronicSNV |
- |
1/17 |
20-18451300-T-C |
POLR3F |
c.180+1595T>C |
- |
IntronicSNV |
- |
2/8 |
5-118490354-G-A |
DMXL1 |
c.4702+2623G>A |
- |
IntronicSNV |
- |
19/42 |
11-67801447-C-T |
NDUFS8 |
c.372+697C>T |
- |
IntronicSNV |
- |
5/6 |
20-61162208-A-G |
MIR1-1HG |
c.21A>G |
p.Ala7Ala |
Synonymous |
3/4 |
- |
3-197020786-A-AA |
DLG1 |
c.151+2436_151+2436dup |
- |
IntronicInsertion |
- |
3/25 |
17-15154966-T-C |
PMP22 |
c.178+7445A>G |
- |
IntronicSNV |
- |
3/4 |
2-176032384-T-C |
ATF2 |
c.-143+394A>G |
- |
intron_variant |
- |
1/13 |
14-23426182-C-A |
HAUS4 |
c.-80G>T |
- |
5_prime_UTR_variant |
1/10 |
- |
19-14640449-G-T |
TECR |
c.1-60G>T |
- |
5-UTRSNV |
1/13 |
- |
3-75787458-G-A |
ZNF717 |
c.1316C>T |
p.Thr439Ile |
Missense |
5/5 |
- |
11-126858406-A-C |
KIRREL3 |
c.55+11945T>G |
- |
IntronicSNV |
- |
1/16 |
19-14640449-G-A |
TECR |
c.1-60G>A |
- |
5-UTRSNV |
1/13 |
- |
5-153726769-A-G |
GALNT10 |
c.568+17471A>G |
- |
IntronicSNV |
- |
4/11 |
20-62551199-T-C |
DNAJC5 |
c.1-8500T>C |
- |
IntronicSNV |
- |
1/4 |
5-168690697-C-T |
SLIT3 |
c.198-12234G>A |
- |
IntronicSNV |
- |
1/35 |
10-98901444-G-A |
SLIT1 |
c.413+16131C>T |
- |
IntronicSNV |
- |
4/36 |
2-189162257-A-G |
GULP1 |
c.-172+5364A>G |
- |
intron_variant |
- |
1/11 |
5-71465361-T-A |
MAP1B |
c.287-14209T>A |
- |
IntronicSNV |
- |
2/6 |
20-62550871-C-T |
DNAJC5 |
c.1-8828C>T |
- |
IntronicSNV |
- |
1/4 |
1-150524468-G-A |
ADAMTSL4 |
c.1-297G>A |
- |
IntronicSNV |
- |
2/18 |
1-231155616-G-A |
FAM89A |
c.548C>T |
p.Ser183Phe |
Missense |
2/2 |
- |
8-145619365-G-A |
CPSF1 |
c.3822C>T |
p.Arg1274Arg |
Synonymous |
34/38 |
- |
8-14710983-T-C |
SGCZ |
c.40-298548A>G |
- |
IntronicSNV |
- |
1/7 |
2-132248776-C-T |
MZT2A |
c.319+673G>A |
- |
IntronicSNV |
- |
2/2 |
17-72744823-G-C |
SLC9A3R1 |
c.1-163G>C |
- |
5-UTRSNV |
1/6 |
- |
11-75046227-T-C |
ARRB1 |
c.20+16405A>G |
- |
IntronicSNV |
- |
1/15 |
X-69242707-G-A |
EDA |
c.503-361G>A |
- |
IntronicSNV |
- |
2/7 |
16-88535337-T-G |
ZFPM1 |
c.40+15251T>G |
- |
IntronicSNV |
- |
1/9 |
8-117886982-C-G |
RAD21 |
c.-165G>C |
- |
5_prime_UTR_variant |
1/14 |
- |
20-62550824-G-A |
DNAJC5 |
c.1-8875G>A |
- |
IntronicSNV |
- |
1/4 |
13-41384940-G-A |
SLC25A15 |
c.*1137G>A |
- |
3-UTRSNV |
7/7 |
- |
7-100802786-A-G |
AP1S1 |
c.429+309A>G |
- |
IntronicSNV |
- |
4/4 |
17-12820646-G-C |
ARHGAP44 |
c.387+1318G>C |
- |
IntronicSNV |
- |
5/20 |
X-135633045-G-A |
VGLL1 |
c.688+65G>A |
- |
IntronicSNV |
- |
4/4 |
3-111831684-A-C |
C3orf52 |
c.468-127A>C |
- |
IntronicSNV |
- |
4/5 |
17-58120456-A-G |
HEATR6 |
c.*468T>C |
- |
IntergenicSNV |
20/20 |
- |
20-52684971-A-T |
BCAS1 |
c.-6+2001T>A |
- |
intron_variant |
- |
1/11 |
20-52684971-A-C |
BCAS1 |
c.-6+2001T>G |
- |
intron_variant |
- |
1/11 |
1-41220077-C-T |
NFYC |
c.387+1159C>T |
- |
IntronicSNV |
- |
5/9 |
2-109757963-C-T |
SH3RF3 |
c.573+11394C>T |
- |
IntronicSNV |
- |
1/9 |
1-201777752-C-T |
NAV1 |
c.4038+14C>T |
- |
IntronicSNV |
- |
19/29 |
11-94199721-G-A |
MRE11 |
c.1098+1258C>T |
- |
IntronicSNV |
- |
10/19 |
8-117886991-T-C |
RAD21 |
c.-174A>G |
- |
5_prime_UTR_variant |
1/14 |
- |
1-172113756-C-T |
DNM3 |
c.1659+13328C>T |
- |
IntronicSNV |
- |
14/20 |
20-61870140-C-T |
BIRC7 |
c.577+174C>T |
- |
IntronicSNV |
- |
4/6 |
2-240007616-G-C |
HDAC4 |
c.2429+1639C>G |
- |
IntronicSNV |
- |
19/26 |
11-94199721-G-T |
MRE11 |
c.1098+1258C>A |
- |
IntronicSNV |
- |
10/19 |
11-126858406-A-G |
KIRREL3 |
c.55+11945T>C |
- |
IntronicSNV |
- |
1/16 |
11-126858406-A-T |
KIRREL3 |
c.55+11945T>A |
- |
IntronicSNV |
- |
1/16 |
1-23384355-G-A |
KDM1A |
c.1012+297G>A |
- |
IntronicSNV |
- |
7/18 |
16-593362-G-A |
CAPN15 |
c.1-3477G>A |
- |
IntronicSNV |
- |
3/13 |
17-58120427-C-T |
HEATR6 |
c.*497G>A |
- |
IntergenicSNV |
20/20 |
- |
10-100155011-T-C |
PYROXD2 |
c.727A>G |
p.Thr243Ala |
Missense |
8/16 |
- |
3-170824459-A-G |
TNIK |
c.2406+513T>C |
- |
IntronicSNV |
- |
21/32 |
8-145619405-G-A |
CPSF1 |
c.3812-30C>T |
- |
IntronicSNV |
- |
33/37 |
5-153726756-G-A |
GALNT10 |
c.568+17458G>A |
- |
IntronicSNV |
- |
4/11 |
12-79813049-A-G |
SYT1 |
c.929-24804A>G |
- |
IntronicSNV |
- |
9/10 |
11-94199710-C-T |
MRE11 |
c.1098+1269G>A |
- |
IntronicSNV |
- |
10/19 |
16-2183130-G-A |
PKD1 |
c.215+2346C>T |
- |
IntronicSNV |
- |
1/45 |
3-189547735-T-C |
TP63 |
c.579+21420T>C |
- |
IntronicSNV |
- |
4/13 |
20-45795618-G-T |
EYA2 |
c.979-2169G>T |
- |
IntronicSNV |
- |
10/15 |
11-64136130-G-A |
RPS6KA4 |
c.1335-46G>A |
- |
IntronicSNV |
- |
11/16 |
11-19781608-T-C |
NAV2 |
c.267+46100T>C |
- |
IntronicSNV |
- |
1/37 |
9-36864265-G-A |
PAX5 |
c.911-17339C>T |
- |
IntronicSNV |
- |
7/8 |
4-174189331-G-A |
GALNT7 |
c.587+19740G>A |
- |
IntronicSNV |
- |
2/11 |
20-60639883-T-C |
TAF4 |
c.984A>G |
p.Gln328Gln |
Synonymous |
1/15 |
- |
20-60639883-T-A |
TAF4 |
c.984A>T |
p.Gln328His |
Missense |
1/15 |
- |
8-41128599-G-A |
SFRP1 |
c.623-5591C>T |
- |
IntronicSNV |
- |
2/2 |
1-6489910-T-C |
ESPN |
c.488+1431T>C |
- |
IntronicSNV |
- |
2/12 |
10-98901472-C-T |
SLIT1 |
c.413+16103G>A |
- |
IntronicSNV |
- |
4/36 |
7-1062656-C-T |
C7orf50 |
c.130-12877G>A |
- |
IntronicSNV |
- |
2/4 |
15-31357238-C-G |
TRPM1 |
c.724+1041G>C |
- |
IntronicSNV |
- |
6/26 |
1-65045574-C-T |
CACHD1 |
c.262-2265C>T |
- |
intron_variant |
- |
2/26 |
19-10928119-A-G |
DNM2 |
c.1660-2537A>G |
- |
IntronicSNV |
- |
14/19 |
2-132248776-C-G |
MZT2A |
c.319+673G>C |
- |
IntronicSNV |
- |
2/2 |
5-36148057-T-G |
LMBRD2 |
c.-58+3601A>C |
- |
intron_variant |
- |
1/17 |
5-36148057-T-C |
LMBRD2 |
c.-58+3601A>G |
- |
intron_variant |
- |
1/17 |
8-92217762-G-T |
LRRC69 |
c.933+4742G>T |
- |
IntronicSNV |
- |
7/7 |
16-28969966-T-A |
NFATC2IP |
c.847-72T>A |
- |
IntronicSNV |
- |
5/7 |
11-65403835-C-T |
PCNX3 |
c.5594-27C>T |
- |
IntronicSNV |
- |
33/34 |
X-109298558-C-T |
TMEM164 |
c.391-12017C>T |
- |
IntronicSNV |
- |
2/6 |
21-28326286-G-A |
ADAMTS5 |
c.1237+772C>T |
- |
IntronicSNV |
- |
2/7 |
9-135821099-C-T |
GFI1B |
c.-701+43C>T |
- |
intron_variant |
- |
1/10 |
19-3961431-A-G |
DAPK3 |
c.630-272T>C |
- |
IntronicSNV |
- |
6/8 |
4-7461827-C-CCCAC |
SORCS2 |
c.548+63745_548+63746insCCAC |
- |
IntronicInsertion |
- |
2/26 |
11-1880730-C-A |
LSP1 |
c.53+6303C>A |
- |
IntronicSNV |
- |
1/10 |
11-1880730-C-T |
LSP1 |
c.53+6303C>T |
- |
IntronicSNV |
- |
1/10 |
16-585328-G-A |
CAPN15 |
c.-136-701G>A |
- |
intron_variant |
- |
2/13 |
7-43190561-G-T |
HECW1 |
c.-32+36571G>T |
- |
intron_variant |
- |
2/29 |
10-100155019-A-C |
PYROXD2 |
c.719T>G |
p.Leu240* |
Nonsense |
8/16 |
- |
7-73125664-C-T |
STX1A |
c.31-2212G>A |
- |
IntronicSNV |
- |
1/9 |
19-4445978-T-A |
UBXN6 |
c.1200+68A>T |
- |
IntronicSNV |
- |
10/10 |
9-4850301-T-C |
RCL1 |
c.971+751T>C |
- |
IntronicSNV |
- |
8/8 |
3-185485689-T-C |
IGF2BP2 |
c.239+55252A>G |
- |
IntronicSNV |
- |
2/15 |
11-94199711-G-T |
MRE11 |
c.1098+1268C>A |
- |
IntronicSNV |
- |
10/19 |
20-62551110-G-A |
DNAJC5 |
c.1-8589G>A |
- |
IntronicSNV |
- |
1/4 |
2-239990554-G-A |
HDAC4 |
c.2736-251C>T |
- |
IntronicSNV |
- |
22/26 |
3-20179097-C-T |
KAT2B |
c.1860+553C>T |
- |
IntronicSNV |
- |
12/17 |
10-98901468-T-G |
SLIT1 |
c.413+16107A>C |
- |
IntronicSNV |
- |
4/36 |
9-137271257-G-A |
RXRA |
c.29-22221G>A |
- |
IntronicSNV |
- |
1/9 |
22-26951185-C-T |
TPST2 |
c.-160-10544G>A |
- |
intron_variant |
- |
1/6 |
5-1063051-G-A |
SLC12A7 |
c.2739+908C>T |
- |
IntronicSNV |
- |
20/23 |
19-50357889-C-T |
PTOV1 |
c.310-20C>T |
- |
IntronicSNV |
- |
2/12 |
6-119390263-G-A |
FAM184A |
c.159+9043C>T |
- |
IntronicSNV |
- |
1/17 |
11-118889678-G-A |
TRAPPC4 |
c.173G>A |
p.Arg58Gln |
Missense |
1/5 |
- |
2-214622795-T-A |
SPAG16 |
c.1071-104414T>A |
- |
IntronicSNV |
- |
10/15 |
11-118889678-G-T |
TRAPPC4 |
c.173G>T |
p.Arg58Leu |
Missense |
1/5 |
- |
5-133561491-T-C |
PPP2CA |
c.62A>G |
p.Lys21Arg |
Missense |
1/7 |
- |
6-170639930-C-T |
FAM120B |
c.2017+292C>T |
- |
IntronicSNV |
- |
4/10 |
13-100008451-G-T |
UBAC2 |
c.703-11590G>T |
- |
IntronicSNV |
- |
5/6 |
12-47581629-T-A |
PCED1B |
c.-525-28376T>A |
- |
intron_variant |
- |
2/3 |
13-100008451-G-A |
UBAC2 |
c.703-11590G>A |
- |
IntronicSNV |
- |
5/6 |
14-55344884-G-C |
GCH1 |
c.344-12730C>G |
- |
IntronicSNV |
- |
1/5 |
8-145625538-C-T |
CPSF1 |
c.937+22G>A |
- |
IntronicSNV |
- |
9/37 |
17-65467665-C-T |
PITPNC1 |
c.49-61253C>T |
- |
IntronicSNV |
- |
1/8 |
8-145625538-C-G |
CPSF1 |
c.937+22G>C |
- |
IntronicSNV |
- |
9/37 |
8-145625538-C-A |
CPSF1 |
c.937+22G>T |
- |
IntronicSNV |
- |
9/37 |
19-2234146-C-G |
PLEKHJ1 |
c.320+3G>C |
- |
IntronicSNV |
- |
4/5 |
13-40238175-C-T |
COG6 |
c.370-1058C>T |
- |
IntronicSNV |
- |
3/18 |
4-8007066-C-A |
ABLIM2 |
c.1618+2720G>T |
- |
IntronicSNV |
- |
16/20 |
X-153246549-A-C |
TMEM187 |
c.1-965A>C |
- |
IntronicSNV |
- |
1/1 |
15-70371777-C-G |
TLE3 |
c.235-3280G>C |
- |
IntronicSNV |
- |
4/19 |
12-112475403-T-C |
NAA25 |
c.2649+1630A>G |
- |
IntronicSNV |
- |
22/23 |
22-26951215-T-G |
TPST2 |
c.-160-10574A>C |
- |
intron_variant |
- |
1/6 |
9-130452977-T-C |
STXBP1 |
c.*17-77T>C |
- |
intron_variant |
- |
19/19 |
5-132763295-G-C |
FSTL4 |
c.161-26617C>G |
- |
IntronicSNV |
- |
3/15 |
22-26951215-T-C |
TPST2 |
c.-160-10574A>G |
- |
intron_variant |
- |
1/6 |
1-151518341-T-C |
TUFT1 |
c.60+5439T>C |
- |
IntronicSNV |
- |
1/12 |
19-4932723-C-T |
UHRF1 |
c.570-30C>T |
- |
IntronicSNV |
- |
4/17 |
19-2250666-C-T |
AMH |
c.571C>T |
p.Arg191* |
Nonsense |
3/5 |
- |
19-2250666-C-G |
AMH |
c.571C>G |
p.Arg191Gly |
Missense |
3/5 |
- |
X-153996899-G-A |
DKC1 |
c.771+192G>A |
- |
IntronicSNV |
- |
8/14 |
X-153996899-G-C |
DKC1 |
c.771+192G>C |
- |
IntronicSNV |
- |
8/14 |
X-1412884-G-A |
CSF2RA |
c.647-337G>A |
- |
IntronicSNV |
- |
8/13 |
18-46576094-A-T |
DYM |
c.1861-5520T>A |
- |
IntronicSNV |
- |
16/16 |
20-33054163-A-C |
ITCH |
c.1548-3690A>C |
- |
IntronicSNV |
- |
15/25 |
X-16645199-T-G |
CTPS2 |
c.1394-6744A>C |
- |
IntronicSNV |
- |
14/18 |
3-185485646-T-C |
IGF2BP2 |
c.239+55295A>G |
- |
IntronicSNV |
- |
2/15 |
3-124870376-C-G |
SLC12A8 |
c.623-15750G>C |
- |
IntronicSNV |
- |
5/13 |
7-19744982-C-T |
TWISTNB |
c.255-439G>A |
- |
IntronicSNV |
- |
1/3 |
22-19951351-T-G |
COMT |
c.483+69T>G |
- |
IntronicSNV |
- |
4/5 |
20-62551222-G-A |
DNAJC5 |
c.1-8477G>A |
- |
IntronicSNV |
- |
1/4 |
4-102251532-C-A |
PPP3CA |
c.58+16364G>T |
- |
IntronicSNV |
- |
1/13 |
4-39413585-T-C |
KLB |
c.825+4191T>C |
- |
IntronicSNV |
- |
1/4 |
2-220413812-A-G |
TMEM198 |
c.743-62A>G |
- |
IntronicSNV |
- |
3/4 |
6-45165473-A-C |
SUPT3H |
c.135-91730T>G |
- |
IntronicSNV |
- |
4/12 |
6-45165473-A-G |
SUPT3H |
c.135-91730T>C |
- |
IntronicSNV |
- |
4/12 |
3-114462303-C-G |
ZBTB20 |
c.-397-49881G>C |
- |
intron_variant |
- |
4/9 |
3-114462303-C-A |
ZBTB20 |
c.-397-49881G>T |
- |
intron_variant |
- |
4/9 |
X-17444062-G-A |
NHS |
c.565+49617G>A |
- |
IntronicSNV |
- |
1/7 |
13-108183538-T-C |
FAM155A |
c.916-320435A>G |
- |
IntronicSNV |
- |
1/2 |
17-925742-G-A |
ABR |
c.1681-9338C>T |
- |
IntronicSNV |
- |
15/21 |
20-61870141-G-A |
BIRC7 |
c.577+175G>A |
- |
IntronicSNV |
- |
4/6 |
22-46156412-C-T |
ATXN10 |
c.1173+19994C>T |
- |
IntronicSNV |
- |
9/11 |
X-113997768-G-A |
HTR2C |
c.349+31752G>A |
- |
IntronicSNV |
- |
4/5 |
22-46156412-C-G |
ATXN10 |
c.1173+19994C>G |
- |
IntronicSNV |
- |
9/11 |
16-28969913-T-G |
NFATC2IP |
c.847-125T>G |
- |
IntronicSNV |
- |
5/7 |
14-101347355-C-T |
RTL1 |
c.3771G>A |
p.Gln1257Gln |
Synonymous |
1/1 |
- |
1-162126956-C-T |
NOS1AP |
c.177+2690C>T |
- |
IntronicSNV |
- |
2/9 |
7-1883829-G-A |
MAD1L1 |
c.1999-27965C>T |
- |
IntronicSNV |
- |
18/18 |
7-1883829-G-C |
MAD1L1 |
c.1999-27965C>G |
- |
IntronicSNV |
- |
18/18 |
19-2234086-A-T |
PLEKHJ1 |
c.321-26T>A |
- |
IntronicSNV |
- |
4/5 |
5-53371370-C-T |
ARL15 |
c.462+37662G>A |
- |
IntronicSNV |
- |
4/4 |
10-18134051-G-A |
MRC1 |
c.917-167G>A |
- |
IntronicSNV |
- |
5/29 |
2-47604884-A-G |
EPCAM |
c.555+668A>G |
- |
IntronicSNV |
- |
5/8 |
1-67094171-G-A |
SGIP1 |
c.74+2578G>A |
- |
IntronicSNV |
- |
2/24 |
3-15537762-A-G |
COLQ |
c.107-6618T>C |
- |
IntronicSNV |
- |
1/16 |
3-15537762-A-C |
COLQ |
c.107-6618T>G |
- |
IntronicSNV |
- |
1/16 |
14-55344884-G-A |
GCH1 |
c.344-12730C>T |
- |
IntronicSNV |
- |
1/5 |
12-121161048-T-G |
UNC119B |
c.*3213T>G |
- |
3-UTRSNV |
5/5 |
- |
17-62497427-G-A |
DDX5 |
c.1217-536C>T |
- |
IntronicSNV |
- |
11/12 |
11-61560031-T-C |
TMEM258 |
c.1-1A>G |
- |
5-UTRSNV |
1/4 |
- |
1-154948201-G-C |
CKS1B |
c.59+921G>C |
- |
IntronicSNV |
- |
1/2 |
1-151518318-G-A |
TUFT1 |
c.60+5416G>A |
- |
IntronicSNV |
- |
1/12 |
6-170639877-C-T |
FAM120B |
c.2017+239C>T |
- |
IntronicSNV |
- |
4/10 |
4-148703770-G-A |
ARHGAP10 |
c.155-40108G>A |
- |
IntronicSNV |
- |
1/22 |
3-123851792-C-G |
KALRN |
c.67+38041C>G |
- |
IntronicSNV |
- |
1/33 |
1-151518318-G-C |
TUFT1 |
c.60+5416G>C |
- |
IntronicSNV |
- |
1/12 |
22-46156446-G-A |
ATXN10 |
c.1173+20028G>A |
- |
IntronicSNV |
- |
9/11 |
4-1988193-T-C |
NELFA |
c.635-64A>G |
- |
intron_variant |
- |
4/10 |
20-62551169-C-G |
DNAJC5 |
c.1-8530C>G |
- |
IntronicSNV |
- |
1/4 |
2-219267407-C-T |
CTDSP1 |
c.378+279C>T |
- |
IntronicSNV |
- |
4/6 |
16-83541980-G-A |
CDH13 |
c.960+21720G>A |
- |
IntronicSNV |
- |
7/13 |
6-157950206-A-G |
ZDHHC14 |
c.246-13411A>G |
- |
IntronicSNV |
- |
1/8 |
8-113655752-T-C |
CSMD3 |
c.2998+1586A>G |
- |
IntronicSNV |
- |
19/68 |
7-126698158-T-C |
GRM8 |
c.727+48392A>G |
- |
IntronicSNV |
- |
3/10 |
1-23189715-G-C |
EPHB2 |
c.967+30G>C |
- |
IntronicSNV |
- |
4/15 |
1-23189715-G-A |
EPHB2 |
c.967+30G>A |
- |
IntronicSNV |
- |
4/15 |
5-118490402-G-A |
DMXL1 |
c.4702+2671G>A |
- |
IntronicSNV |
- |
19/42 |
3-175087408-C-T |
NAALADL2 |
c.1090+45294C>T |
- |
IntronicSNV |
- |
5/13 |
1-180407505-A-G |
ACBD6 |
c.385-8108T>C |
- |
IntronicSNV |
- |
3/7 |
10-98901463-T-C |
SLIT1 |
c.413+16112A>G |
- |
IntronicSNV |
- |
4/36 |
20-62550794-C-T |
DNAJC5 |
c.1-8905C>T |
- |
IntronicSNV |
- |
1/4 |
4-115577996-C-A |
UGT8 |
c.823-7155C>A |
- |
IntronicSNV |
- |
1/4 |
4-115577996-C-T |
UGT8 |
c.823-7155C>T |
- |
IntronicSNV |
- |
1/4 |
9-140063648-C-T |
LRRC26 |
c.674-11G>A |
- |
IntronicSNV |
- |
1/1 |
12-54731000-C-G |
COPZ1 |
c.19-3331C>G |
- |
IntronicSNV |
- |
1/8 |
12-54731000-C-T |
COPZ1 |
c.19-3331C>T |
- |
IntronicSNV |
- |
1/8 |
16-69966994-T-C |
WWP2 |
c.1683-879T>C |
- |
IntronicSNV |
- |
17/24 |
1-161196982-G-C |
TOMM40L |
c.184-66G>C |
- |
IntronicSNV |
- |
3/9 |
3-38010938-A-T |
CTDSPL |
c.393+1565A>T |
- |
IntronicSNV |
- |
4/6 |
3-38010938-A-G |
CTDSPL |
c.393+1565A>G |
- |
IntronicSNV |
- |
4/6 |
11-70718466-G-T |
SHANK2 |
c.1027+24140C>A |
- |
intron_variant |
- |
12/26 |
8-10682894-C-T |
PINX1 |
c.394+768G>A |
- |
IntronicSNV |
- |
5/6 |
6-16141825-A-G |
MYLIP |
c.279-31A>G |
- |
IntronicSNV |
- |
2/6 |
8-10682894-C-A |
PINX1 |
c.394+768G>T |
- |
IntronicSNV |
- |
5/6 |
10-135185128-C-G |
ECHS1 |
c.89-867G>C |
- |
IntronicSNV |
- |
1/7 |
3-20179130-G-A |
KAT2B |
c.1860+586G>A |
- |
IntronicSNV |
- |
12/17 |
2-176032408-C-A |
ATF2 |
c.-143+370G>T |
- |
intron_variant |
- |
1/13 |
10-135185128-C-T |
ECHS1 |
c.89-867G>A |
- |
IntronicSNV |
- |
1/7 |
7-99691429-G-A |
MCM7 |
c.1320+367C>T |
- |
IntronicSNV |
- |
12/13 |
5-140027448-C-T |
IK |
c.1-46C>T |
- |
5-UTRSNV |
1/20 |
- |
10-12172775-G-C |
SEC61A2 |
c.7+982G>C |
- |
IntronicSNV |
- |
1/11 |
5-140027448-C-A |
IK |
c.1-46C>A |
- |
5-UTRSNV |
1/20 |
- |
5-140027448-C-G |
IK |
c.1-46C>G |
- |
5-UTRSNV |
1/20 |
- |
3-197401415-C-A |
RUBCN |
c.*474G>T |
- |
3-UTRSNV |
21/21 |
- |
7-126698143-T-C |
GRM8 |
c.727+48407A>G |
- |
IntronicSNV |
- |
3/10 |
10-12620763-T-G |
CAMK1D |
c.224+25408T>G |
- |
IntronicSNV |
- |
2/9 |
3-189547778-C-T |
TP63 |
c.579+21463C>T |
- |
IntronicSNV |
- |
4/13 |
10-35368556-A-C |
CUL2 |
c.1-8311T>G |
- |
IntronicSNV |
- |
1/20 |
7-75544571-T-C |
POR |
c.-5+74T>C |
- |
intron_variant |
- |
1/15 |
8-14710983-T-G |
SGCZ |
c.40-298548A>C |
- |
IntronicSNV |
- |
1/7 |
5-53247394-A-C |
ARL15 |
c.463-64851T>G |
- |
IntronicSNV |
- |
4/4 |
7-114293431-T-C |
FOXP2 |
c.1183-550T>C |
- |
IntronicSNV |
- |
9/16 |
2-214622795-T-G |
SPAG16 |
c.1071-104414T>G |
- |
IntronicSNV |
- |
10/15 |
1-19209759-C-A |
ALDH4A1 |
c.423+14G>T |
- |
IntronicSNV |
- |
6/14 |
5-54468124-A-T |
CDC20B |
c.126+292T>A |
- |
IntronicSNV |
- |
2/11 |
11-94199696-G-A |
MRE11 |
c.1098+1283C>T |
- |
IntronicSNV |
- |
10/19 |
2-47604856-T-C |
EPCAM |
c.555+640T>C |
- |
IntronicSNV |
- |
5/8 |
19-10890999-C-G |
DNM2 |
c.689-2637C>G |
- |
IntronicSNV |
- |
5/19 |
22-18246960-C-G |
BID |
c.80+9416G>C |
- |
IntronicSNV |
- |
1/5 |
17-57443447-G-A |
YPEL2 |
c.117+12560G>A |
- |
IntronicSNV |
- |
2/4 |
3-189547761-G-C |
TP63 |
c.579+21446G>C |
- |
IntronicSNV |
- |
4/13 |
16-88535400-G-A |
ZFPM1 |
c.40+15314G>A |
- |
IntronicSNV |
- |
1/9 |
16-88535400-G-C |
ZFPM1 |
c.40+15314G>C |
- |
IntronicSNV |
- |
1/9 |
7-1883822-G-A |
MAD1L1 |
c.1999-27958C>T |
- |
IntronicSNV |
- |
18/18 |
17-40646803-G-A |
ATP6V0A1 |
c.1336-249G>A |
- |
IntronicSNV |
- |
12/20 |
22-42296995-A-G |
SREBF2 |
c.2907+493A>G |
- |
IntronicSNV |
- |
16/18 |
11-67801414-C-T |
NDUFS8 |
c.372+664C>T |
- |
IntronicSNV |
- |
5/6 |
17-40646803-G-T |
ATP6V0A1 |
c.1336-249G>T |
- |
IntronicSNV |
- |
12/20 |
5-1063054-G-A |
SLC12A7 |
c.2739+905C>T |
- |
IntronicSNV |
- |
20/23 |
2-240007528-A-G |
HDAC4 |
c.2430-1590T>C |
- |
IntronicSNV |
- |
19/26 |
20-44333749-G-A |
WFDC13 |
c.239+516G>A |
- |
IntronicSNV |
- |
2/3 |
3-124451312-T-G |
UMPS |
c.156+1838T>G |
- |
IntronicSNV |
- |
1/5 |
20-62551225-C-G |
DNAJC5 |
c.1-8474C>G |
- |
IntronicSNV |
- |
1/4 |
15-66011633-G-A |
DENND4A |
c.1589-1299C>T |
- |
IntronicSNV |
- |
12/31 |
7-73605546-C-T |
EIF4H |
c.469+910C>T |
- |
IntronicSNV |
- |
5/6 |
1-220291302-G-A |
IARS2 |
c.1640+3486G>A |
- |
IntronicSNV |
- |
12/22 |
8-6602691-G-A |
AGPAT5 |
c.587-2500G>A |
- |
IntronicSNV |
- |
5/7 |
10-126721357-G-A |
CTBP2 |
c.58+6209C>T |
- |
IntronicSNV |
- |
3/10 |
5-168690611-C-T |
SLIT3 |
c.198-12148G>A |
- |
IntronicSNV |
- |
1/35 |
5-168690611-C-G |
SLIT3 |
c.198-12148G>C |
- |
IntronicSNV |
- |
1/35 |
9-18573360-G-A |
ADAMTSL1 |
c.238-668G>A |
- |
IntronicSNV |
- |
3/28 |
2-178120681-G-T |
NFE2L2 |
c.45+8579C>A |
- |
IntronicSNV |
- |
1/4 |
1-161197014-T-G |
TOMM40L |
c.184-34T>G |
- |
IntronicSNV |
- |
3/9 |
4-110409933-A-T |
SEC24B |
c.1061-2550A>T |
- |
IntronicSNV |
- |
3/22 |
4-174189360-A-C |
GALNT7 |
c.587+19769A>C |
- |
IntronicSNV |
- |
2/11 |
X-153996917-G-A |
DKC1 |
c.771+210G>A |
- |
IntronicSNV |
- |
8/14 |
14-31483883-C-T |
STRN3 |
c.282+11227G>A |
- |
IntronicSNV |
- |
1/15 |
14-31483883-C-G |
STRN3 |
c.282+11227G>C |
- |
IntronicSNV |
- |
1/15 |
1-233759939-C-T |
KCNK1 |
c.355+9667C>T |
- |
IntronicSNV |
- |
1/2 |
9-130631702-C-T |
AK1 |
c.325-911G>A |
- |
IntronicSNV |
- |
5/6 |
9-100125949-T-C |
CCDC180 |
c.4035-384T>C |
- |
IntronicSNV |
- |
28/36 |
20-62551166-G-A |
DNAJC5 |
c.1-8533G>A |
- |
IntronicSNV |
- |
1/4 |
2-69330818-T-C |
ANTXR1 |
c.802+746T>C |
- |
IntronicSNV |
- |
10/17 |
2-69330818-T-A |
ANTXR1 |
c.802+746T>A |
- |
IntronicSNV |
- |
10/17 |
9-114694393-A-G |
UGCG |
c.825-57A>G |
- |
IntronicSNV |
- |
7/8 |
9-100125949-T-A |
CCDC180 |
c.4035-384T>A |
- |
IntronicSNV |
- |
28/36 |
17-15154966-T-A |
PMP22 |
c.178+7445A>T |
- |
IntronicSNV |
- |
3/4 |
12-50627935-G-A |
LIMA1 |
c.120-2442C>T |
- |
IntronicSNV |
- |
2/10 |
15-65054668-G-A |
RBPMS2 |
c.88-10831C>T |
- |
IntronicSNV |
- |
1/7 |
2-112528649-A-G |
ANAPC1 |
c.5719+1269T>C |
- |
IntronicSNV |
- |
47/47 |
7-147075204-G-A |
CNTNAP2 |
c.1499-17497G>A |
- |
IntronicSNV |
- |
9/23 |
18-53146519-C-T |
TCF4 |
c.146-15151G>A |
- |
IntronicSNV |
- |
3/19 |
14-65937889-C-A |
FUT8 |
c.-287+15453C>A |
- |
intron_variant |
- |
2/9 |
15-99327711-G-A |
IGF1R |
c.640+76375G>A |
- |
IntronicSNV |
- |
2/20 |
13-40238258-C-G |
COG6 |
c.370-975C>G |
- |
IntronicSNV |
- |
3/18 |
10-98901472-C-A |
SLIT1 |
c.413+16103G>T |
- |
IntronicSNV |
- |
4/36 |
1-33798007-T-G |
PHC2 |
c.1759-2A>C |
- |
IntronicSNV |
- |
9/13 |
1-37966542-T-C |
MEAF6 |
c.533+863A>G |
- |
IntronicSNV |
- |
5/7 |
3-49311593-G-C |
C3orf62 |
c.447-20C>G |
- |
IntronicSNV |
- |
1/2 |
3-49311593-G-A |
C3orf62 |
c.447-20C>T |
- |
IntronicSNV |
- |
1/2 |
16-1785060-G-A |
MAPK8IP3 |
c.602+5481G>A |
- |
IntronicSNV |
- |
4/30 |
18-46196998-A-G |
CTIF |
c.432-42A>G |
- |
IntronicSNV |
- |
5/11 |
11-67801420-C-T |
NDUFS8 |
c.372+670C>T |
- |
IntronicSNV |
- |
5/6 |
22-35731697-G-A |
TOM1 |
c.1148+1256G>A |
- |
IntronicSNV |
- |
11/14 |
4-7461827-C-CCCA |
SORCS2 |
c.548+63745_548+63746insCCA |
- |
IntronicInsertion |
- |
2/26 |
10-100155019-A-T |
PYROXD2 |
c.719T>A |
p.Leu240* |
Nonsense |
8/16 |
- |
2-109930076-C-T |
SH3RF3 |
c.574-34054C>T |
- |
IntronicSNV |
- |
1/9 |
2-109930076-C-G |
SH3RF3 |
c.574-34054C>G |
- |
IntronicSNV |
- |
1/9 |
18-50763539-G-A |
DCC |
c.1911+21572G>A |
- |
IntronicSNV |
- |
12/28 |
6-166922862-G-A |
RPS6KA2 |
c.379+903C>T |
- |
IntronicSNV |
- |
4/20 |
22-26951185-C-G |
TPST2 |
c.-160-10544G>C |
- |
intron_variant |
- |
1/6 |
8-9599212-C-T |
TNKS |
c.2643+6216C>T |
- |
IntronicSNV |
- |
17/26 |
8-41518025-G-T |
ANK1 |
c.5544+1369C>A |
- |
IntronicSNV |
- |
41/41 |
3-114121005-A-C |
ZBTB20 |
c.1-50300T>G |
- |
IntronicSNV |
- |
4/9 |
5-54466544-A-G |
CDC20B |
c.126+1872T>C |
- |
IntronicSNV |
- |
2/11 |
11-10529849-A-G |
MTRNR2L8 |
c.1-76T>C |
- |
5-UTRSNV |
1/1 |
- |
1-31212062-A-G |
LAPTM5 |
c.388-153T>C |
- |
IntronicSNV |
- |
4/7 |
20-62551216-G-A |
DNAJC5 |
c.1-8483G>A |
- |
IntronicSNV |
- |
1/4 |
19-35836511-A-G |
CD22 |
c.2215A>G |
p.Arg739Gly |
Missense |
12/14 |
- |
7-147075120-T-C |
CNTNAP2 |
c.1499-17581T>C |
- |
IntronicSNV |
- |
9/23 |
9-73424988-A-G |
TRPM3 |
c.514+17775T>C |
- |
IntronicSNV |
- |
6/24 |
20-62550780-C-T |
DNAJC5 |
c.1-8919C>T |
- |
IntronicSNV |
- |
1/4 |
20-62550780-C-G |
DNAJC5 |
c.1-8919C>G |
- |
IntronicSNV |
- |
1/4 |
5-53247400-C-T |
ARL15 |
c.463-64857G>A |
- |
IntronicSNV |
- |
4/4 |
5-36148078-T-C |
LMBRD2 |
c.-58+3580A>G |
- |
intron_variant |
- |
1/17 |
3-197401415-C-T |
RUBCN |
c.*474G>A |
- |
3-UTRSNV |
21/21 |
- |
9-96357135-G-A |
PHF2 |
c.98+17982G>A |
- |
IntronicSNV |
- |
1/21 |
5-134263798-T-C |
PCBD2 |
c.216+17642T>C |
- |
IntronicSNV |
- |
2/3 |
1-19209759-C-T |
ALDH4A1 |
c.423+14G>A |
- |
IntronicSNV |
- |
6/14 |
3-197020758-G-A |
DLG1 |
c.151+2459C>T |
- |
IntronicSNV |
- |
3/25 |
1-6489914-T-C |
ESPN |
c.488+1435T>C |
- |
IntronicSNV |
- |
2/12 |
2-136422988-G-A |
R3HDM1 |
c.2047+4025G>A |
- |
IntronicSNV |
- |
18/25 |
10-70519093-G-A |
CCAR1 |
c.1921-1671G>A |
- |
IntronicSNV |
- |
15/24 |
5-54466378-G-A |
CDC20B |
c.126+2038C>T |
- |
IntronicSNV |
- |
2/11 |
X-29592425-C-G |
IL1RAPL1 |
c.704-94122C>G |
- |
IntronicSNV |
- |
5/10 |
5-53247340-G-T |
ARL15 |
c.463-64797C>A |
- |
IntronicSNV |
- |
4/4 |
5-53247340-G-C |
ARL15 |
c.463-64797C>G |
- |
IntronicSNV |
- |
4/4 |
7-30329467-T-C |
ZNRF2 |
c.469+4025T>C |
- |
IntronicSNV |
- |
1/4 |
7-101936397-C-A |
SH2B2 |
c.101-7409C>A |
- |
IntronicSNV |
- |
1/6 |
17-35391105-C-T |
AATF |
c.1619+2123C>T |
- |
IntronicSNV |
- |
11/11 |
15-63116226-C-T |
TLN2 |
c.7002+3417C>T |
- |
IntronicSNV |
- |
51/55 |
22-33832598-G-A |
LARGE1 |
c.788-4347C>T |
- |
IntronicSNV |
- |
6/14 |
15-59463460-T-G |
MYO1E |
c.2480+636A>C |
- |
IntronicSNV |
- |
22/27 |
6-157100842-T-G |
ARID1B |
c.1542+237T>G |
- |
IntronicSNV |
- |
1/19 |
6-157950175-G-A |
ZDHHC14 |
c.246-13442G>A |
- |
IntronicSNV |
- |
1/8 |
7-1883863-C-T |
MAD1L1 |
c.1999-27999G>A |
- |
IntronicSNV |
- |
18/18 |
6-35632542-T-G |
FKBP5 |
c.1-21941A>C |
- |
IntronicSNV |
- |
2/11 |
6-35632542-T-C |
FKBP5 |
c.1-21941A>G |
- |
IntronicSNV |
- |
2/11 |
7-102111936-G-A |
LRWD1 |
c.1443-729G>A |
- |
IntronicSNV |
- |
11/14 |
8-14711013-T-G |
SGCZ |
c.40-298578A>C |
- |
IntronicSNV |
- |
1/7 |
7-44921348-T-C |
PURB |
c.*2661A>G |
- |
3-UTRSNV |
1/1 |
- |
8-14711013-T-C |
SGCZ |
c.40-298578A>G |
- |
IntronicSNV |
- |
1/7 |
1-176998565-T-C |
ASTN1 |
c.1120+205A>G |
- |
IntronicSNV |
- |
5/22 |
1-110141578-C-T |
GNAI3 |
c.*6634C>T |
- |
3_prime_UTR_variant |
9/9 |
- |
3-197401442-C-T |
RUBCN |
c.*447G>A |
- |
3-UTRSNV |
21/21 |
- |
3-49311589-G-C |
C3orf62 |
c.447-16C>G |
- |
IntronicSNV |
- |
1/2 |
19-19545932-A-G |
GATAD2A |
c.1-30223A>G |
- |
IntronicSNV |
- |
1/11 |
5-134263736-C-T |
PCBD2 |
c.216+17580C>T |
- |
IntronicSNV |
- |
2/3 |
14-60113692-T-A |
RTN1 |
c.1766-39482A>T |
- |
IntronicSNV |
- |
3/8 |
16-28969913-T-C |
NFATC2IP |
c.847-125T>C |
- |
IntronicSNV |
- |
5/7 |
3-49311589-G-A |
C3orf62 |
c.447-16C>T |
- |
IntronicSNV |
- |
1/2 |
3-49311589-G-T |
C3orf62 |
c.447-16C>A |
- |
IntronicSNV |
- |
1/2 |
10-115933876-G-A |
CCDC186 |
c.-164C>T |
- |
5_prime_UTR_variant |
1/16 |
- |
3-55886608-G-A |
ERC2 |
c.2564+35809C>T |
- |
IntronicSNV |
- |
14/17 |
17-12820632-A-T |
ARHGAP44 |
c.387+1304A>T |
- |
IntronicSNV |
- |
5/20 |
10-105807928-T-C |
COL17A1 |
c.2228-66A>G |
- |
IntronicSNV |
- |
29/55 |
3-55886594-A-G |
ERC2 |
c.2564+35823T>C |
- |
IntronicSNV |
- |
14/17 |
2-220413813-G-C |
TMEM198 |
c.743-61G>C |
- |
IntronicSNV |
- |
3/4 |
1-171070937-C-A |
FMO3 |
c.133-1989C>A |
- |
IntronicSNV |
- |
2/8 |
10-12695177-A-G |
CAMK1D |
c.225-13558A>G |
- |
IntronicSNV |
- |
2/9 |
X-151562938-A-T |
GABRA3 |
c.1-29896T>A |
- |
IntronicSNV |
- |
1/9 |
12-116586414-C-A |
MED13L |
c.311-37097G>T |
- |
IntronicSNV |
- |
2/30 |
19-4932737-C-G |
UHRF1 |
c.570-16C>G |
- |
IntronicSNV |
- |
4/17 |
1-117637325-C-T |
TTF2 |
c.2977-606C>T |
- |
IntronicSNV |
- |
18/22 |
3-47891069-G-A |
DHX30 |
c.3191+25G>A |
- |
IntronicSNV |
- |
20/21 |
4-113569692-C-A |
LARP7 |
c.1142+702C>A |
- |
IntronicSNV |
- |
8/12 |
4-113569692-C-T |
LARP7 |
c.1142+702C>T |
- |
IntronicSNV |
- |
8/12 |
15-70371772-C-T |
TLE3 |
c.235-3275G>A |
- |
IntronicSNV |
- |
4/19 |
2-207974756-A-G |
KLF7 |
c.733+13742T>C |
- |
IntronicSNV |
- |
2/3 |
11-113320799-G-T |
DRD2 |
c.-32+24999C>A |
- |
intron_variant |
- |
1/7 |
10-105807858-A-G |
COL17A1 |
c.2232T>C |
p.Pro744Pro |
Synonymous |
30/56 |
- |
1-236016347-C-A |
LYST |
c.-98+13796G>T |
- |
intron_variant |
- |
1/52 |
12-54731071-C-A |
COPZ1 |
c.19-3260C>A |
- |
IntronicSNV |
- |
1/8 |
2-86420158-T-G |
IMMT |
c.45+2303A>C |
- |
IntronicSNV |
- |
1/14 |
X-113886051-T-C |
HTR2C |
c.-80+37712T>C |
- |
intron_variant |
- |
2/5 |
5-9053945-C-T |
SEMA5A |
c.2689+254G>A |
- |
IntronicSNV |
- |
19/22 |
3-186504532-C-T |
EIF4A2 |
c.771+98C>T |
- |
IntronicSNV |
- |
7/10 |
19-35836497-C-T |
CD22 |
c.2209-8C>T |
- |
IntronicSNV |
- |
11/13 |
15-93447631-T-C |
CHD2 |
c.62+3102T>C |
- |
IntronicSNV |
- |
2/38 |
1-220373943-C-G |
RAB3GAP2 |
c.811+1675G>C |
- |
IntronicSNV |
- |
9/34 |
15-93447631-T-A |
CHD2 |
c.62+3102T>A |
- |
IntronicSNV |
- |
2/38 |
3-114035387-T-G |
ZBTB20 |
c.*22465A>C |
- |
IntergenicSNV |
10/10 |
- |
8-10682898-A-G |
PINX1 |
c.394+764T>C |
- |
IntronicSNV |
- |
5/6 |
9-131007109-G-T |
DNM1 |
c.1672-1564G>T |
- |
IntronicSNV |
- |
15/21 |
20-62551113-C-G |
DNAJC5 |
c.1-8586C>G |
- |
IntronicSNV |
- |
1/4 |
9-131007109-G-A |
DNM1 |
c.1672-1564G>A |
- |
IntronicSNV |
- |
15/21 |
8-104166905-C-CC |
BAALC |
c.160+13620_160+13620dup |
- |
IntronicInsertion |
- |
1/1 |
16-69967062-A-G |
WWP2 |
c.1683-811A>G |
- |
IntronicSNV |
- |
17/24 |
3-16974725-C-T |
PLCL2 |
c.327+47860C>T |
- |
intron_variant |
- |
4/8 |
6-159185778-A-C |
SYTL3 |
c.*142A>C |
- |
3-UTRSNV |
17/17 |
- |
11-126858392-A-G |
KIRREL3 |
c.55+11959T>C |
- |
IntronicSNV |
- |
1/16 |
17-72744827-C-T |
SLC9A3R1 |
c.1-159C>T |
- |
5-UTRSNV |
1/6 |
- |
19-50357890-G-A |
PTOV1 |
c.310-19G>A |
- |
IntronicSNV |
- |
2/12 |
3-120114558-C-T |
FSTL1 |
c.*1241G>A |
- |
3-UTRSNV |
11/11 |
- |
6-44403399-C-A |
CDC5L |
c.2091+5752C>A |
- |
IntronicSNV |
- |
14/15 |
12-50627942-G-A |
LIMA1 |
c.120-2449C>T |
- |
IntronicSNV |
- |
2/10 |
11-34963459-T-C |
PDHX |
c.242-5594T>C |
- |
IntronicSNV |
- |
2/10 |
4-83674520-G-A |
SCD5 |
c.232+44939C>T |
- |
IntronicSNV |
- |
1/3 |
10-98901457-T-TTCGTA |
SLIT1 |
c.413+16117_413+16118insTACGA |
- |
IntronicInsertion |
- |
4/36 |
4-83674520-G-C |
SCD5 |
c.232+44939C>G |
- |
IntronicSNV |
- |
1/3 |
12-65016300-A-C |
RASSF3 |
c.111+11777A>C |
- |
IntronicSNV |
- |
1/4 |
1-231155616-G-T |
FAM89A |
c.548C>A |
p.Ser183Tyr |
Missense |
2/2 |
- |
1-12251808-T-G |
TNFRSF1B |
c.308-23T>G |
- |
IntronicSNV |
- |
3/9 |
1-12251808-T-C |
TNFRSF1B |
c.308-23T>C |
- |
IntronicSNV |
- |
3/9 |
1-31212074-C-T |
LAPTM5 |
c.388-165G>A |
- |
IntronicSNV |
- |
4/7 |
12-65016300-A-G |
RASSF3 |
c.111+11777A>G |
- |
IntronicSNV |
- |
1/4 |
14-101351048-G-A |
RTL1 |
c.78C>T |
p.Ser26Ser |
Synonymous |
1/1 |
- |
14-101351048-G-C |
RTL1 |
c.78C>G |
p.Ser26Ser |
Synonymous |
1/1 |
- |
1-68649290-A-G |
WLS |
c.379+10348T>C |
- |
IntronicSNV |
- |
2/11 |
1-33798031-G-A |
PHC2 |
c.1759-26C>T |
- |
IntronicSNV |
- |
9/13 |
15-81134346-T-C |
CEMIP |
c.1-31875T>C |
- |
IntronicSNV |
- |
1/28 |
11-72494584-G-C |
STARD10 |
c.1-2358C>G |
- |
IntronicSNV |
- |
1/6 |
7-101936435-T-A |
SH2B2 |
c.101-7371T>A |
- |
IntronicSNV |
- |
1/6 |
10-98901468-T-C |
SLIT1 |
c.413+16107A>G |
- |
IntronicSNV |
- |
4/36 |
15-45725255-C-G |
C15orf48 |
c.*41C>G |
- |
3-UTRSNV |
4/4 |
- |
16-67236292-C-G |
ELMO3 |
c.1262-8C>G |
- |
splice_region_variant,intron_variant |
- |
13/19 |
16-67236292-C-A |
ELMO3 |
c.1262-8C>A |
- |
splice_region_variant,intron_variant |
- |
13/19 |
7-102046296-T-G |
PRKRIP1 |
c.392+1166T>G |
- |
IntronicSNV |
- |
4/5 |
5-133561486-G-A |
PPP2CA |
c.67C>T |
p.Leu23Leu |
Synonymous |
1/7 |
- |
2-128181122-G-A |
PROC |
c.535+138G>A |
- |
IntronicSNV |
- |
6/8 |
3-49843636-C-T |
UBA7 |
c.2716-38G>A |
- |
IntronicSNV |
- |
21/23 |
18-13611164-G-T |
LDLRAD4 |
c.182-9952G>T |
- |
IntronicSNV |
- |
3/5 |
17-43552789-C-T |
PLEKHM1 |
c.600G>A |
p.Pro200Pro |
Synonymous |
4/12 |
- |
19-2234080-G-C |
PLEKHJ1 |
c.321-20C>G |
- |
IntronicSNV |
- |
4/5 |
22-38240289-G-A |
ANKRD54 |
c.1-44C>T |
- |
5-UTRSNV |
1/8 |
- |
22-38240289-G-T |
ANKRD54 |
c.1-44C>A |
- |
5-UTRSNV |
1/8 |
- |
19-6416447-G-A |
KHSRP |
c.1489-29C>T |
- |
IntronicSNV |
- |
14/19 |
19-2234080-G-A |
PLEKHJ1 |
c.321-20C>T |
- |
IntronicSNV |
- |
4/5 |
1-68649258-C-G |
WLS |
c.379+10380G>C |
- |
IntronicSNV |
- |
2/11 |
6-31924631-G-A |
NELFE |
c.146-16C>T |
- |
IntronicSNV |
- |
3/10 |
6-31924631-G-C |
NELFE |
c.146-16C>G |
- |
IntronicSNV |
- |
3/10 |
1-68649258-C-T |
WLS |
c.379+10380G>A |
- |
IntronicSNV |
- |
2/11 |
17-29861935-G-A |
RAB11FIP4 |
c.*3185G>A |
- |
3-UTRSNV |
15/15 |
- |
17-66420605-T-C |
WIPI1 |
c.1293+1611A>G |
- |
IntronicSNV |
- |
12/12 |
9-20502274-G-T |
MLLT3 |
c.194-45490C>A |
- |
IntronicSNV |
- |
2/10 |
1-209796810-G-T |
LAMB3 |
c.2358+40C>A |
- |
IntronicSNV |
- |
16/22 |
2-176032376-G-T |
ATF2 |
c.-143+402C>A |
- |
intron_variant |
- |
1/13 |
2-208619553-T-C |
CCNYL1 |
c.*1131T>C |
- |
3-UTRSNV |
11/11 |
- |
1-228284991-C-T |
ARF1 |
c.148+28C>T |
- |
IntronicSNV |
- |
2/4 |
14-65511443-C-T |
CHURC1-FNTB |
c.817+282C>T |
- |
IntronicSNV |
- |
10/12 |
3-175087390-G-A |
NAALADL2 |
c.1090+45276G>A |
- |
IntronicSNV |
- |
5/13 |
11-36031698-C-T |
LDLRAD3 |
c.47-25955C>T |
- |
IntronicSNV |
- |
1/5 |
15-66011630-A-G |
DENND4A |
c.1589-1296T>C |
- |
IntronicSNV |
- |
12/31 |
19-14640439-G-A |
TECR |
c.1-70G>A |
- |
5-UTRSNV |
1/13 |
- |
20-33054160-A-G |
ITCH |
c.1548-3693A>G |
- |
IntronicSNV |
- |
15/25 |
5-100152234-T-C |
ST8SIA4 |
c.798-4401A>G |
- |
IntronicSNV |
- |
4/4 |
2-176032376-G-A |
ATF2 |
c.-143+402C>T |
- |
intron_variant |
- |
1/13 |
10-126721373-C-T |
CTBP2 |
c.58+6193G>A |
- |
IntronicSNV |
- |
3/10 |
14-50766639-G-A |
L2HGDH |
c.408+2096C>T |
- |
IntronicSNV |
- |
3/9 |
2-180725568-T-C |
ZNF385B |
c.-155+260A>G |
- |
intron_variant |
- |
1/9 |
2-220413807-G-A |
TMEM198 |
c.743-67G>A |
- |
IntronicSNV |
- |
3/4 |
10-105807855-A-C |
COL17A1 |
c.2235T>G |
p.Ala745Ala |
Synonymous |
30/56 |
- |
5-54468094-C-T |
CDC20B |
c.126+322G>A |
- |
IntronicSNV |
- |
2/11 |
1-54519800-G-A |
TCEANC2 |
c.1-296G>A |
- |
IntronicSNV |
- |
1/4 |
20-62550859-G-A |
DNAJC5 |
c.1-8840G>A |
- |
IntronicSNV |
- |
1/4 |
16-56279479-T-C |
GNAO1 |
c.162-30364T>C |
- |
IntronicSNV |
- |
2/8 |
4-40504072-G-A |
RBM47 |
c.-155+13812C>T |
- |
intron_variant |
- |
1/4 |
8-141742750-A-G |
PTK2 |
c.2096+2600T>C |
- |
IntronicSNV |
- |
22/31 |
14-23887219-T-A |
MYH7 |
c.4169+200A>T |
- |
IntronicSNV |
- |
30/39 |
10-115933913-T-C |
CCDC186 |
c.-201A>G |
- |
5_prime_UTR_variant |
1/16 |
- |
X-112023986-A-C |
AMOT |
c.1246+128T>G |
- |
IntronicSNV |
- |
10/11 |
12-116586405-T-C |
MED13L |
c.311-37088A>G |
- |
IntronicSNV |
- |
2/30 |
17-58120405-C-T |
HEATR6 |
c.*519G>A |
- |
IntergenicSNV |
20/20 |
- |
14-23887219-T-G |
MYH7 |
c.4169+200A>C |
- |
IntronicSNV |
- |
30/39 |
5-179225324-G-A |
MGAT4B |
c.1510+23C>T |
- |
IntronicSNV |
- |
13/14 |
1-23189667-C-G |
EPHB2 |
c.949C>G |
p.Leu317Val |
Missense |
4/16 |
- |
3-160122434-G-A |
SMC4 |
c.687+142G>A |
- |
IntronicSNV |
- |
5/23 |
7-102106201-G-A |
LRWD1 |
c.81-63G>A |
- |
IntronicSNV |
- |
1/14 |
20-2633466-C-G |
NOP56 |
c.4-22C>G |
- |
IntronicSNV |
- |
1/11 |
10-98901443-C-T |
SLIT1 |
c.413+16132G>A |
- |
IntronicSNV |
- |
4/36 |
1-10287820-C-T |
KIF1B |
c.1-4567C>T |
- |
IntronicSNV |
- |
1/46 |
1-10287820-C-A |
KIF1B |
c.1-4567C>A |
- |
IntronicSNV |
- |
1/46 |
20-62551272-G-A |
DNAJC5 |
c.1-8427G>A |
- |
IntronicSNV |
- |
1/4 |
20-62550880-G-A |
DNAJC5 |
c.1-8819G>A |
- |
IntronicSNV |
- |
1/4 |
1-176998548-T-C |
ASTN1 |
c.1120+222A>G |
- |
IntronicSNV |
- |
5/22 |
3-188406636-C-T |
LPP |
c.1114-19419C>T |
- |
IntronicSNV |
- |
6/10 |
2-114478923-C-T |
SLC35F5 |
c.1341+1758G>A |
- |
IntronicSNV |
- |
13/15 |
7-1062626-C-T |
C7orf50 |
c.130-12847G>A |
- |
IntronicSNV |
- |
2/4 |
20-62550803-G-A |
DNAJC5 |
c.1-8896G>A |
- |
IntronicSNV |
- |
1/4 |
6-135300536-T-C |
HBS1L |
c.1472-130A>G |
- |
IntronicSNV |
- |
12/16 |
11-19781594-G-A |
NAV2 |
c.267+46086G>A |
- |
IntronicSNV |
- |
1/37 |
5-9053975-G-C |
SEMA5A |
c.2689+224C>G |
- |
IntronicSNV |
- |
19/22 |
20-2633466-C-T |
NOP56 |
c.4-22C>T |
- |
IntronicSNV |
- |
1/11 |
15-31357325-C-T |
TRPM1 |
c.724+954G>A |
- |
IntronicSNV |
- |
6/26 |
19-40788477-A-G |
AKT2 |
c.-85+2611T>C |
- |
intron_variant |
- |
1/13 |
19-40788477-A-C |
AKT2 |
c.-85+2611T>G |
- |
intron_variant |
- |
1/13 |
10-126721423-C-A |
CTBP2 |
c.58+6143G>T |
- |
IntronicSNV |
- |
3/10 |
5-95149655-C-G |
GLRX |
c.*1013G>C |
- |
3_prime_UTR_variant |
3/3 |
- |
11-61582708-T-C |
FADS1 |
c.375+1319A>G |
- |
IntronicSNV |
- |
1/11 |
17-12820632-A-C |
ARHGAP44 |
c.387+1304A>C |
- |
IntronicSNV |
- |
5/20 |
6-159185716-G-A |
SYTL3 |
c.*80G>A |
- |
3-UTRSNV |
17/17 |
- |
1-23189667-C-T |
EPHB2 |
c.949C>T |
p.Leu317Leu |
Synonymous |
4/16 |
- |
15-31357238-C-T |
TRPM1 |
c.724+1041G>A |
- |
IntronicSNV |
- |
6/26 |
6-170639892-C-G |
FAM120B |
c.2017+254C>G |
- |
IntronicSNV |
- |
4/10 |
6-135300556-G-A |
HBS1L |
c.1472-150C>T |
- |
IntronicSNV |
- |
12/16 |
16-83541990-G-A |
CDH13 |
c.960+21730G>A |
- |
IntronicSNV |
- |
7/13 |
15-69094259-C-A |
ANP32A |
c.55-14001G>T |
- |
IntronicSNV |
- |
1/6 |
16-69967005-C-A |
WWP2 |
c.1683-868C>A |
- |
IntronicSNV |
- |
17/24 |
20-18451325-T-C |
POLR3F |
c.180+1620T>C |
- |
IntronicSNV |
- |
2/8 |
14-101347448-A-G |
RTL1 |
c.3678T>C |
p.Gly1226Gly |
Synonymous |
1/1 |
- |
19-35836530-G-C |
CD22 |
c.2234G>C |
p.Gly745Ala |
Missense |
12/14 |
- |
11-74431316-A-G |
CHRDL2 |
c.83-1439T>C |
- |
IntronicSNV |
- |
1/10 |
12-104324309-G-T |
HSP90B1 |
c.16G>T |
p.Val6Leu |
Missense |
1/18 |
- |
16-1785038-G-A |
MAPK8IP3 |
c.602+5459G>A |
- |
IntronicSNV |
- |
4/30 |
X-112023949-C-T |
AMOT |
c.1246+165G>A |
- |
IntronicSNV |
- |
10/11 |
19-35836530-G-A |
CD22 |
c.2234G>A |
p.Gly745Asp |
Missense |
12/14 |
- |
9-73424956-A-G |
TRPM3 |
c.514+17807T>C |
- |
IntronicSNV |
- |
6/24 |
2-110844047-C-T |
MALL |
c.400-713G>A |
- |
IntronicSNV |
- |
3/3 |
1-161196982-G-A |
TOMM40L |
c.184-66G>A |
- |
IntronicSNV |
- |
3/9 |
3-38010964-G-A |
CTDSPL |
c.393+1591G>A |
- |
IntronicSNV |
- |
4/6 |
7-98479285-T-G |
TRRAP |
c.101-313T>G |
- |
IntronicSNV |
- |
2/70 |
2-86420201-G-C |
IMMT |
c.45+2260C>G |
- |
IntronicSNV |
- |
1/14 |
7-98479350-C-T |
TRRAP |
c.101-248C>T |
- |
IntronicSNV |
- |
2/70 |
19-46178206-T-G |
GIPR |
c.633+122T>G |
- |
IntronicSNV |
- |
7/13 |
12-120151501-G-A |
CIT |
c.4181-48C>T |
- |
IntronicSNV |
- |
32/46 |
1-100746855-T-C |
RTCA |
c.839-3929T>C |
- |
IntronicSNV |
- |
9/11 |
8-144895201-G-A |
SCRIB |
c.641C>T |
p.Pro214Leu |
Missense |
7/36 |
- |
16-1785015-C-T |
MAPK8IP3 |
c.602+5436C>T |
- |
IntronicSNV |
- |
4/30 |
11-118889715-G-T |
TRAPPC4 |
c.175+35G>T |
- |
IntronicSNV |
- |
1/4 |
11-1880764-C-T |
LSP1 |
c.53+6337C>T |
- |
IntronicSNV |
- |
1/10 |
11-1880764-C-A |
LSP1 |
c.53+6337C>A |
- |
IntronicSNV |
- |
1/10 |
1-60198944-A-G |
FGGY |
c.1585-24659A>G |
- |
IntronicSNV |
- |
15/16 |
13-24736590-C-T |
SPATA13 |
c.-223+1519C>T |
- |
intron_variant |
- |
1/11 |
13-24736590-C-A |
SPATA13 |
c.-223+1519C>A |
- |
intron_variant |
- |
1/11 |
10-98901476-A-C |
SLIT1 |
c.413+16099T>G |
- |
IntronicSNV |
- |
4/36 |
2-12877503-A-AA |
TRIB2 |
c.564-2949_564-2949dup |
- |
IntronicInsertion |
- |
2/2 |
16-88535407-C-G |
ZFPM1 |
c.40+15321C>G |
- |
IntronicSNV |
- |
1/9 |
11-118889715-G-A |
TRAPPC4 |
c.175+35G>A |
- |
IntronicSNV |
- |
1/4 |
3-114035388-A-G |
ZBTB20 |
c.*22464T>C |
- |
IntergenicSNV |
10/10 |
- |
6-138756428-T-C |
NHSL1 |
c.677-1611A>G |
- |
IntronicSNV |
- |
4/6 |
11-48118365-T-C |
PTPRJ |
c.97-13245T>C |
- |
IntronicSNV |
- |
1/8 |
9-36864298-T-C |
PAX5 |
c.911-17372A>G |
- |
IntronicSNV |
- |
7/8 |
7-101936374-C-G |
SH2B2 |
c.101-7432C>G |
- |
IntronicSNV |
- |
1/6 |
16-83541980-G-C |
CDH13 |
c.960+21720G>C |
- |
IntronicSNV |
- |
7/13 |
15-70371777-C-A |
TLE3 |
c.235-3280G>T |
- |
IntronicSNV |
- |
4/19 |
3-44903434-G-C |
TMEM42 |
c.18G>C |
p.Gly6Gly |
Synonymous |
1/3 |
- |
10-98901475-T-G |
SLIT1 |
c.413+16100A>C |
- |
IntronicSNV |
- |
4/36 |
15-70371777-C-T |
TLE3 |
c.235-3280G>A |
- |
IntronicSNV |
- |
4/19 |
3-19356389-A-G |
KCNH8 |
c.443-27690A>G |
- |
IntronicSNV |
- |
3/15 |
8-14710999-A-G |
SGCZ |
c.40-298564T>C |
- |
IntronicSNV |
- |
1/7 |
11-75046227-T-A |
ARRB1 |
c.20+16405A>T |
- |
IntronicSNV |
- |
1/15 |
1-155316214-T-C |
ASH1L |
c.7850A>G |
p.His2617Arg |
Missense |
21/28 |
- |
10-53059406-T-C |
PRKG1 |
c.433+146316T>C |
- |
IntronicSNV |
- |
2/17 |
7-30329444-G-A |
ZNRF2 |
c.469+4002G>A |
- |
IntronicSNV |
- |
1/4 |
1-170120566-C-T |
METTL11B |
c.154+5164C>T |
- |
IntronicSNV |
- |
1/3 |
15-75081078-G-A |
CSK |
c.-66+6017G>A |
- |
intron_variant |
- |
1/12 |
19-804962-C-T |
PTBP1 |
c.717+23C>T |
- |
IntronicSNV |
- |
7/14 |
5-53371399-C-T |
ARL15 |
c.462+37633G>A |
- |
IntronicSNV |
- |
4/4 |
11-118889713-G-A |
TRAPPC4 |
c.175+33G>A |
- |
IntronicSNV |
- |
1/4 |
3-111831684-A-T |
C3orf52 |
c.468-127A>T |
- |
IntronicSNV |
- |
4/5 |
7-73605551-T-A |
EIF4H |
c.469+915T>A |
- |
IntronicSNV |
- |
5/6 |
2-189842822-A-T |
COL3A1 |
c.79+3528A>T |
- |
IntronicSNV |
- |
1/50 |
X-153996893-T-C |
DKC1 |
c.771+186T>C |
- |
IntronicSNV |
- |
8/14 |
7-127721934-C-T |
SND1 |
c.2110+381C>T |
- |
IntronicSNV |
- |
18/23 |
18-46576058-T-C |
DYM |
c.1861-5484A>G |
- |
IntronicSNV |
- |
16/16 |
6-5148546-C-T |
LYRM4 |
c.208-38821G>A |
- |
IntronicSNV |
- |
2/2 |
12-47581639-T-G |
PCED1B |
c.-525-28366T>G |
- |
intron_variant |
- |
2/3 |
5-72174432-C-G |
TNPO1 |
c.920+1259C>G |
- |
IntronicSNV |
- |
9/24 |
1-3477292-C-T |
MEGF6 |
c.481+19097G>A |
- |
IntronicSNV |
- |
4/36 |
20-62574006-A-G |
UCKL1 |
c.923+1000T>C |
- |
IntronicSNV |
- |
8/14 |
20-62574006-A-T |
UCKL1 |
c.923+1000T>A |
- |
IntronicSNV |
- |
8/14 |
10-105807912-C-T |
COL17A1 |
c.2228-50G>A |
- |
IntronicSNV |
- |
29/55 |
19-49812123-C-T |
SLC6A16 |
c.1229+10G>A |
- |
IntronicSNV |
- |
7/11 |
14-101347408-G-A |
RTL1 |
c.3718C>T |
p.Leu1240Leu |
Synonymous |
1/1 |
- |
7-75544518-C-T |
POR |
c.-5+21C>T |
- |
intron_variant |
- |
1/15 |
11-101390610-C-T |
TRPC6 |
c.171-15081G>A |
- |
IntronicSNV |
- |
1/12 |
17-925764-A-G |
ABR |
c.1681-9360T>C |
- |
IntronicSNV |
- |
15/21 |
11-10529847-G-A |
MTRNR2L8 |
c.1-74C>T |
- |
5-UTRSNV |
1/1 |
- |
8-9599255-C-T |
TNKS |
c.2643+6259C>T |
- |
IntronicSNV |
- |
17/26 |
15-45725255-C-T |
C15orf48 |
c.*41C>T |
- |
3-UTRSNV |
4/4 |
- |
20-62574006-A-C |
UCKL1 |
c.923+1000T>G |
- |
IntronicSNV |
- |
8/14 |
8-9599255-C-G |
TNKS |
c.2643+6259C>G |
- |
IntronicSNV |
- |
17/26 |
22-35731646-G-A |
TOM1 |
c.1148+1205G>A |
- |
IntronicSNV |
- |
11/14 |
X-32659592-C-A |
DMD |
c.1331+2657G>T |
- |
IntronicSNV |
- |
11/78 |
17-72744805-C-G |
SLC9A3R1 |
c.1-181C>G |
- |
5-UTRSNV |
1/6 |
- |
17-72744805-C-T |
SLC9A3R1 |
c.1-181C>T |
- |
5-UTRSNV |
1/6 |
- |
19-50436324-G-A |
ATF5 |
c.824G>A |
p.Arg275Gln |
Missense |
3/3 |
- |
X-32659592-C-T |
DMD |
c.1331+2657G>A |
- |
IntronicSNV |
- |
11/78 |
10-74480800-C-T |
MCU |
c.150+28741C>T |
- |
IntronicSNV |
- |
1/7 |
14-74946891-C-T |
NPC2 |
c.*86G>A |
- |
3-UTRSNV |
5/5 |
- |
20-62550862-C-A |
DNAJC5 |
c.1-8837C>A |
- |
IntronicSNV |
- |
1/4 |
20-62550862-C-G |
DNAJC5 |
c.1-8837C>G |
- |
IntronicSNV |
- |
1/4 |
6-41566509-G-A |
FOXP4 |
c.1857-18G>A |
- |
IntronicSNV |
- |
16/16 |
19-35836492-G-T |
CD22 |
c.2209-13G>T |
- |
IntronicSNV |
- |
11/13 |
16-593323-G-A |
CAPN15 |
c.1-3516G>A |
- |
IntronicSNV |
- |
3/13 |
1-167967963-G-C |
DCAF6 |
c.904-3757G>C |
- |
IntronicSNV |
- |
7/19 |
1-167967963-G-A |
DCAF6 |
c.904-3757G>A |
- |
IntronicSNV |
- |
7/19 |
20-62551281-C-G |
DNAJC5 |
c.1-8418C>G |
- |
IntronicSNV |
- |
1/4 |
5-154209024-A-G |
FAXDC2 |
c.366+1337T>C |
- |
IntronicSNV |
- |
5/8 |
4-7461769-A-G |
SORCS2 |
c.548+63687A>G |
- |
IntronicSNV |
- |
2/26 |
20-62551255-C-T |
DNAJC5 |
c.1-8444C>T |
- |
IntronicSNV |
- |
1/4 |
7-1062574-G-T |
C7orf50 |
c.130-12795C>A |
- |
IntronicSNV |
- |
2/4 |
20-62550791-A-G |
DNAJC5 |
c.1-8908A>G |
- |
IntronicSNV |
- |
1/4 |
17-13446849-C-A |
HS3ST3A1 |
c.600-46714G>T |
- |
IntronicSNV |
- |
1/1 |
17-925776-G-A |
ABR |
c.1681-9372C>T |
- |
IntronicSNV |
- |
15/21 |
14-64561812-G-A |
SYNE2 |
c.12108+1614G>A |
- |
IntronicSNV |
- |
61/115 |
17-43552790-G-A |
PLEKHM1 |
c.599C>T |
p.Pro200Leu |
Missense |
4/12 |
- |
X-151127092-A-G |
GABRE |
c.784+1219T>C |
- |
IntronicSNV |
- |
6/8 |
20-33578255-C-T |
MYH7B |
c.2103+142C>T |
- |
IntronicSNV |
- |
22/44 |
2-12877501-G-GA |
TRIB2 |
c.564-2951_564-2950insA |
- |
IntronicInsertion |
- |
2/2 |
1-201777752-C-A |
NAV1 |
c.4038+14C>A |
- |
IntronicSNV |
- |
19/29 |
19-35836492-G-A |
CD22 |
c.2209-13G>A |
- |
IntronicSNV |
- |
11/13 |
1-12251808-T-A |
TNFRSF1B |
c.308-23T>A |
- |
IntronicSNV |
- |
3/9 |
1-220291292-A-G |
IARS2 |
c.1640+3476A>G |
- |
IntronicSNV |
- |
12/22 |
9-135821135-C-T |
GFI1B |
c.-701+79C>T |
- |
intron_variant |
- |
1/10 |
4-110409923-T-G |
SEC24B |
c.1061-2560T>G |
- |
IntronicSNV |
- |
3/22 |
7-44150504-C-T |
AEBP1 |
c.1486-8C>T |
- |
IntronicSNV |
- |
12/20 |
1-151518322-G-A |
TUFT1 |
c.60+5420G>A |
- |
IntronicSNV |
- |
1/12 |
9-137271302-G-A |
RXRA |
c.29-22176G>A |
- |
IntronicSNV |
- |
1/9 |
17-66420592-A-G |
WIPI1 |
c.1293+1624T>C |
- |
IntronicSNV |
- |
12/12 |
8-144815291-A-G |
FAM83H |
c.-16+570T>C |
- |
intron_variant |
- |
1/4 |
1-150524405-G-A |
ADAMTSL4 |
c.1-360G>A |
- |
IntronicSNV |
- |
2/18 |
7-1062599-T-C |
C7orf50 |
c.130-12820A>G |
- |
IntronicSNV |
- |
2/4 |
13-40238256-G-T |
COG6 |
c.370-977G>T |
- |
IntronicSNV |
- |
3/18 |
1-23046058-G-A |
EPHB2 |
c.61+8522G>A |
- |
IntronicSNV |
- |
1/15 |
7-44150504-C-G |
AEBP1 |
c.1486-8C>G |
- |
IntronicSNV |
- |
12/20 |
4-110409867-G-A |
SEC24B |
c.1061-2616G>A |
- |
IntronicSNV |
- |
3/22 |
15-93447631-T-G |
CHD2 |
c.62+3102T>G |
- |
IntronicSNV |
- |
2/38 |
20-62550854-G-C |
DNAJC5 |
c.1-8845G>C |
- |
IntronicSNV |
- |
1/4 |
3-197401372-G-T |
RUBCN |
c.*517C>A |
- |
3-UTRSNV |
21/21 |
- |
3-197401372-G-C |
RUBCN |
c.*517C>G |
- |
3-UTRSNV |
21/21 |
- |
3-197401372-G-A |
RUBCN |
c.*517C>T |
- |
3-UTRSNV |
21/21 |
- |
17-72744798-G-C |
SLC9A3R1 |
c.1-188G>C |
- |
5-UTRSNV |
1/6 |
- |
4-7312222-C-T |
SORCS2 |
c.481-85793C>T |
- |
IntronicSNV |
- |
1/26 |
8-10682905-C-T |
PINX1 |
c.394+757G>A |
- |
IntronicSNV |
- |
5/6 |
1-54519753-G-C |
TCEANC2 |
c.1-343G>C |
- |
IntronicSNV |
- |
1/4 |
7-95849010-A-C |
SLC25A13 |
c.329-10721T>G |
- |
IntronicSNV |
- |
4/17 |
7-102046276-A-G |
PRKRIP1 |
c.392+1146A>G |
- |
IntronicSNV |
- |
4/5 |
10-98901476-A-G |
SLIT1 |
c.413+16099T>C |
- |
IntronicSNV |
- |
4/36 |
15-69094207-G-A |
ANP32A |
c.55-13949C>T |
- |
IntronicSNV |
- |
1/6 |
14-65511444-G-A |
CHURC1-FNTB |
c.817+283G>A |
- |
IntronicSNV |
- |
10/12 |
1-17604437-C-T |
PADI3 |
c.1555+1066C>T |
- |
IntronicSNV |
- |
13/15 |
5-134263801-T-C |
PCBD2 |
c.216+17645T>C |
- |
IntronicSNV |
- |
2/3 |
7-44921387-C-A |
PURB |
c.*2622G>T |
- |
3-UTRSNV |
1/1 |
- |
1-54519826-T-C |
TCEANC2 |
c.1-270T>C |
- |
IntronicSNV |
- |
1/4 |
18-19405676-C-T |
MIB1 |
c.1829+6069C>T |
- |
IntronicSNV |
- |
12/20 |
3-160122421-A-G |
SMC4 |
c.687+129A>G |
- |
IntronicSNV |
- |
5/23 |