view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LTBP4_chr19_40596369_40634818 | 40625252 | TTATATAT others(37): Show |
T | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0003 | a0003c0018 | a0003c0018t0001 | a0003c0018t0001g0234 a0003c0018t0001g0236 |
2 | 157 | 0.0127 | -44 | c.383 others(61): Show |
LTBP4 | ENSG00000090006.18 | transcript | ENST00000396819.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
LUC7L3_chr17_50714603_50761219 | 50729894 | CATTATAT others(37): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG00735.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0043 | a0001c0001t0004g0008 a0001c0001t0004g0045 a0001c0001t0004g0046 others(13): Show |
19 | 390 | 0.0487 | -44 | c.100 others(61): Show |
LUC7L3 | ENSG00000108848.16 | transcript | ENST00000505658.6 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24574211 | CCTTTCTT others(37): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG02080.hp2 HG02165.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0012others(3): Show | a0001c0001t0002g0019 a0001c0001t0002g0099 a0001c0001t0008g0015 others(4): Show |
7 | 61 | 0.1148 | -44 | c.62+ others(61): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LY96_chr8_73986392_74034079 | 73996364 | CCTTCATT others(37): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 others(2): Show |
5 | 299 | 0.0167 | -44 | c.112 others(61): Show |
LY96 | ENSG00000154589.7 | transcript | ENST00000284818.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LY96_chr8_73986392_74034079 | 73996368 | CATTCCTT others(37): Show |
C | intron_variant | MODIFIER | HG03225.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 a0001c0001t0001g0203 |
2 | 224 | 0.0089 | -44 | c.112 others(61): Show |
LY96 | ENSG00000154589.7 | transcript | ENST00000284818.7 | protein_coding | 1/4 | chr8 | TogoVar | |||||||
LY96_chr8_73986392_74034079 | 73996372 | CCTTTCTT others(37): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01261.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(18): Show |
22 | 163 | 0.1350 | -44 | c.112 others(61): Show |
LY96 | ENSG00000154589.7 | transcript | ENST00000284818.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LYRM4_chr6_5103419_5265950 | 5207326 | ACCCTCAT others(37): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG03130.hp2 NA18522.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0013a0002c0002t0015 | a0002c0002t0002g0022 a0002c0002t0013g0024 a0002c0002t0015g0253 |
3 | 284 | 0.0106 | -44 | c.207 others(61): Show |
LYRM4 | ENSG00000214113.11 | transcript | ENST00000330636.9 | protein_coding | 2/2 | chr6 | TogoVar | |||||||
LYZL2_chr10_30606779_30634753 | 30611558 | GGAAGGAA others(37): Show |
G | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01952.hp1 NA18946.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0235 a0001c0001t0001g0236 others(2): Show |
6 | 421 | 0.0143 | -44 | c.*35 others(53): Show |
LYZL2 | ENSG00000151033.10 | transcript | ENST00000647634.2 | protein_coding | 220 | chr10 | TogoVar | |||||||
MAB21L4_chr2_240881048_240901156 | 240881646 | GCCACTGA others(37): Show |
G | downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 444 | 0.0023 | -44 | c.*53 others(55): Show |
MAB21L4 | ENSG00000172478.18 | transcript | ENST00000388934.5 | protein_coding | 4401 | chr2 | TogoVar | |||||||
MACROD2_chr20_13990516_16058197 | 15021173 | CATACAGG others(37): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0009 | 1 | 24 | 0.0417 | -44 | c.419 others(65): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MACROD2_chr20_13990516_16058197 | 15777494 | TTTCCTTC others(37): Show |
T | intron_variant | MODIFIER | HG01081.hp1 NA18970.hp2 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0008 | a0001c0001t0001g0012 a0001c0001t0002g0015 a0002c0002t0008g0023 |
3 | 16 | 0.1875 | -44 | c.646 others(63): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 2052402 | AGGAGGGC others(37): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02896.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0167 a0001c0006t0001g0158 |
2 | 254 | 0.0079 | -44 | c.121 others(65): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 12/18 | chr7 | TogoVar | |||||||
MAEA_chr4_1284891_1345137 | 1334078 | TCACCCCT others(37): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00558.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(2): Show | a0001c0001t0001g0123 a0001c0001t0001g0237 a0001c0001t0001g0238 others(33): Show |
38 | 377 | 0.1008 | -44 | c.765 others(61): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAFA_chr8_143423064_143435732 | 143435346 | AGCCCAGG others(37): Show |
A | upstream_gene_variant | MODIFIER | HG03209.hp1 NA18995.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0004a0002c0005t0011 | a0001c0001t0004g0000 a0002c0005t0011g0000 |
2 | 441 | 0.0045 | -44 | c.-49 others(55): Show |
MAFA | ENSG00000182759.4 | transcript | ENST00000333480.3 | protein_coding | 4615 | chr8 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 78573277 | TATATATT others(37): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0018 | 1 | 40 | 0.0250 | -44 | c.539 others(63): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 3/21 | chr7 | TogoVar | |||||||
MAGT1_chrX_77820747_77900435 | 77834218 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 258 | 0.0039 | -44 | c.902 others(61): Show |
MAGT1 | ENSG00000102158.22 | transcript | ENST00000618282.5 | protein_coding | 8/9 | chrX | TogoVar | |||||||
MAK_chr6_10757723_10843539 | 10813102 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0096 | 1 | 270 | 0.0037 | -44 | c.358 others(59): Show |
MAK | ENSG00000111837.12 | transcript | ENST00000354489.7 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
MAL_chr2_95020708_95058992 | 95037833 | TGACTGAG others(37): Show |
T | intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 322 | 0.0031 | -44 | c.94- others(61): Show |
MAL | ENSG00000172005.11 | transcript | ENST00000309988.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MAN1B1_chr9_137081985_137114183 | 137102752 | ACATTCAC others(37): Show |
A | intron_variant | MODIFIER | HG03225.hp2 NA18978.hp2 NA19084.hp1 |
a0006a0016 | a0006c0011a0016c0028 | a0006c0011t0002a0016c0028t0002 | a0006c0011t0002g0039 a0016c0028t0002g0129 |
3 | 404 | 0.0074 | -44 | c.125 others(63): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAOA_chrX_43651299_43751817 | 43657181 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0045 | 1 | 281 | 0.0036 | -44 | c.73+ others(57): Show |
MAOA | ENSG00000189221.11 | transcript | ENST00000338702.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MAP2K4_chr17_12015877_12148828 | 12069890 | CATATATA others(37): Show |
C | intron_variant | MODIFIER | HG03453.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 a0001c0001t0001g0130 |
2 | 17 | 0.1176 | -44 | c.219 others(63): Show |
MAP2K4 | ENSG00000065559.15 | transcript | ENST00000353533.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MAP2_chr2_209419047_209739112 | 209593748 | ATATTATA others(37): Show |
A | intron_variant | MODIFIER | HG01975.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0025 a0001c0001t0003g0022 |
2 | 146 | 0.0137 | -44 | c.-10 others(65): Show |
MAP2 | ENSG00000078018.22 | transcript | ENST00000682079.1 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MAP3K12_chr12_53474669_53504458 | 53498908 | CTGTGTGT others(37): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG02698.hp1 HG02698.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0132 a0001c0001t0003g0131 a0001c0001t0004g0133 others(1): Show |
4 | 5 | 0.8000 | -44 | c.-38 others(59): Show |
MAP3K12 | ENSG00000139625.13 | transcript | ENST00000547488.6 | protein_coding | 1/13 | chr12 | TogoVar | |||||||
MAP3K1_chr5_56810549_56901152 | 56835306 | AGACAGGA others(37): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0003 | a0003c0002 | a0003c0002t0011 | a0003c0002t0011g0207 | 1 | 382 | 0.0026 | -44 | c.482 others(63): Show |
MAP3K1 | ENSG00000095015.6 | transcript | ENST00000399503.4 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MAP3K1_chr5_56810549_56901152 | 56835357 | AAGGCAGG others(37): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02896.hp2 |
a0003 | a0003c0002 | a0003c0002t0003a0003c0002t0004 | a0003c0002t0003g0039 a0003c0002t0004g0038 |
2 | 382 | 0.0052 | -44 | c.482 others(63): Show |
MAP3K1 | ENSG00000095015.6 | transcript | ENST00000399503.4 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MAP3K1_chr5_56810549_56901152 | 56835372 | AGACAGGA others(37): Show |
A | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0305 | 1 | 380 | 0.0026 | -44 | c.482 others(63): Show |
MAP3K1 | ENSG00000095015.6 | transcript | ENST00000399503.4 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MAP7D2_chrX_20001713_20121907 | 20094498 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0145 | 1 | 208 | 0.0048 | -44 | c.130 others(63): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 1/16 | chrX | TogoVar | |||||||
MAPK8IP3_chr16_1701195_1775351 | 1735626 | CGTGTGAC others(37): Show |
C | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0300 | 1 | 327 | 0.0031 | -44 | c.602 others(61): Show |
MAPK8IP3 | ENSG00000138834.15 | transcript | ENST00000610761.2 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MAPKAP1_chr9_125432394_125712208 | 125623712 | GGGTCAGC others(37): Show |
G | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 295 | 0.0034 | -44 | c.498 others(63): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 4/11 | chr9 | TogoVar | |||||||
MAPKAPK5_chr12_111837228_111907222 | 111862073 | ATGCCTTC others(37): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02055.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0023a0001c0001t0081 | a0001c0001t0010g0006 a0001c0001t0010g0125 a0001c0001t0010g0127 others(4): Show |
9 | 350 | 0.0257 | -44 | c.37- others(59): Show |
MAPKAPK5 | ENSG00000089022.15 | transcript | ENST00000550735.7 | protein_coding | 1/13 | chr12 | TogoVar | |||||||
MARCHF6_chr5_10348695_10445388 | 10435623 | CTATATAA others(37): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00621.hp2 HG01099.hp2 HG01168.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0002g0003 a0001c0001t0002g0198 a0001c0001t0002g0200 others(26): Show |
29 | 198 | 0.1465 | -44 | c.*19 others(55): Show |
MARCHF6 | ENSG00000145495.17 | transcript | ENST00000274140.10 | protein_coding | 26/26 | 1946 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MARCHF6_chr5_10348695_10445388 | 10435631 | CTATATAA others(37): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02922.hp2 HG03516.hp1 NA18747.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0046a0001c0003t0003 | a0001c0001t0001g0009 a0001c0001t0046g0171 a0001c0003t0003g0129 others(1): Show |
4 | 172 | 0.0233 | -44 | c.*19 others(55): Show |
MARCHF6 | ENSG00000145495.17 | transcript | ENST00000274140.10 | protein_coding | 26/26 | 1954 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MARCO_chr2_118937194_118999660 | 118986628 | AGAAAGAA others(37): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG02615.hp1 HG02723.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0062 a0001c0001t0001g0147 others(8): Show |
12 | 392 | 0.0306 | -44 | c.106 others(63): Show |
MARCO | ENSG00000019169.11 | transcript | ENST00000327097.5 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MARS2_chr2_197700369_197713395 | 197712812 | AACTCATA others(37): Show |
A | downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 380 | 0.0026 | -44 | c.*56 others(55): Show |
MARS2 | ENSG00000247626.5 | transcript | ENST00000282276.8 | protein_coding | 4418 | chr2 | TogoVar | |||||||
MB21D2_chr3_192791815_192922856 | 192828591 | CATATATA others(37): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG02258.hp2 HG02559.hp1 others(13): Show |
a0001a0005 | a0001c0001a0001c0008a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0104 a0001c0001t0001g0152 a0001c0001t0002g0130 others(13): Show |
16 | 64 | 0.2500 | -44 | c.212 others(63): Show |
MB21D2 | ENSG00000180611.7 | transcript | ENST00000392452.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
MBOAT7_chr19_54168415_54194580 | 54181689 | GGGAGGGA others(37): Show |
G | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0338 | 1 | 369 | 0.0027 | -44 | c.494 others(59): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 5/7 | chr19 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51197041 | GATATATA others(37): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01884.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0049others(1): Show | a0001c0001t0001g0223 a0001c0001t0002g0093 a0001c0001t0049g0215 others(1): Show |
4 | 7 | 0.5714 | -44 | c.122 others(63): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 12/16 | chr17 | TogoVar | |||||||
MCCC2_chr5_71582340_71663706 | 71618488 | TCTTCCTT others(37): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0003 | a0003c0008 | a0003c0008t0006 | a0003c0008t0006g0079 | 1 | 30 | 0.0333 | -44 | c.625 others(61): Show |
MCCC2 | ENSG00000131844.17 | transcript | ENST00000340941.11 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113145763 | CACACACA others(37): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02572.hp1 others(3): Show |
a0001a0003 | a0001c0016a0001c0027a0001c0047others(1): Show | a0001c0016t0006a0001c0016t0023a0001c0027t0001others(2): Show | a0001c0016t0006g0042 a0001c0016t0006g0052 a0001c0016t0023g0047 others(3): Show |
6 | 135 | 0.0444 | -44 | c.742 others(61): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | |||||||
MCM10_chr10_13156558_13216110 | 13204990 | GTATGTAT others(37): Show |
G | intron_variant | MODIFIER | HG01169.hp2 | a0004 | a0004c0005 | a0004c0005t0005 | a0004c0005t0005g0317 | 1 | 128 | 0.0078 | -44 | c.249 others(61): Show |
MCM10 | ENSG00000065328.17 | transcript | ENST00000378714.8 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 95207947 | GGGAGAGA others(37): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG03486.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0013t0025 | a0001c0001t0002g0084 a0001c0013t0025g0015 |
2 | 98 | 0.0204 | -44 | c.720 others(63): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 95230157 | AATACACA others(37): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG02027.hp1 HG02055.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(11): Show | a0001c0001t0002g0032 a0001c0001t0003g0018 a0001c0001t0003g0021 others(14): Show |
17 | 98 | 0.1735 | -44 | c.720 others(63): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94243320 | CATACGTA others(37): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02647.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0002t0001a0001c0002t0019others(1): Show | a0001c0001t0003g0180 a0001c0002t0001g0179 a0001c0002t0019g0036 others(1): Show |
4 | 273 | 0.0147 | -44 | c.-66 others(63): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94244855 | CACATACA others(37): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG01081.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0069 a0001c0001t0002g0068 a0001c0001t0006g0075 others(12): Show |
15 | 274 | 0.0547 | -44 | c.-66 others(63): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94390070 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG00735.hp2 | a0005 | a0005c0014 | a0005c0014t0045 | a0005c0014t0045g0175 | 1 | 268 | 0.0037 | -44 | c.178 others(63): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCUB_chr4_109555246_109693719 | 109663879 | AACCCAGT others(37): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG02071.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0230 a0001c0001t0005g0096 a0001c0001t0005g0098 others(8): Show |
11 | 334 | 0.0329 | -44 | c.347 others(59): Show |
MCUB | ENSG00000005059.16 | transcript | ENST00000394650.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MCU_chr10_72687143_72892694 | 72804017 | AATATATA others(37): Show |
A | intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 40 | 0.0250 | -44 | c.151 others(63): Show |
MCU | ENSG00000156026.15 | transcript | ENST00000373053.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MED13L_chr12_115953576_116282693 | 116027092 | CATGTGGC others(37): Show |
C | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 50 | 0.0200 | -44 | c.480 others(61): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | TogoVar | |||||||
MED27_chr9_131855112_132084867 | 132000063 | CTCAAAAG others(37): Show |
C | intron_variant | MODIFIER | HG03453.hp2 NA19067.hp2 NA19074.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0065 a0001c0001t0001g0078 a0002c0002t0001g0273 |
3 | 99 | 0.0303 | -44 | c.479 others(63): Show |
MED27 | ENSG00000160563.14 | transcript | ENST00000292035.10 | protein_coding | 3/7 | chr9 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3483074 | GGCTCAGC others(37): Show |
G | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02818.hp2 others(3): Show |
a0001a0035a0094others(1): Show | a0001c0001a0035c0065a0094c0070others(1): Show | a0001c0001t0001a0001c0001t0009a0035c0065t0043others(2): Show | a0001c0001t0001g0257 a0001c0001t0009g0157 a0001c0001t0009g0202 others(3): Show |
6 | 290 | 0.0207 | -44 | c.*74 others(55): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 4876 | chr1 | TogoVar |