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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAFF_chr22_38196994_38221507 | 38207564 | CCAGTAGC others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(137): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0018others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(51): Show |
140 | 388 | 0.3608 | -15 | c.-32 others(32): Show |
MAFF | ENSG00000185022.12 | transcript | ENST00000338483.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MAFK_chr7_1525702_1548043 | 1527420 | CACACACA others(8): Show |
C | upstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 380 | 0.0026 | -15 | c.-35 others(26): Show |
MAFK | ENSG00000198517.10 | transcript | ENST00000343242.9 | protein_coding | 3281 | chr7 | TogoVar | |||||||
MAGEB10_chrX_27802990_27828014 | 27809504 | CCCCCCCC others(8): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG02572.hp1 HG02970.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0063 a0001c0001t0001g0133 a0001c0001t0001g0134 others(4): Show |
7 | 250 | 0.0280 | -15 | c.-19 others(34): Show |
MAGEB10 | ENSG00000177689.10 | transcript | ENST00000356790.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MAGEB18_chrX_26133343_26145736 | 26135727 | CTAATACA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 326 | 0.0031 | -15 | c.-28 others(26): Show |
MAGEB18 | ENSG00000176774.6 | transcript | ENST00000325250.2 | protein_coding | 2615 | chrX | TogoVar | |||||||
MAGI1_chr3_65348526_66043918 | 65362326 | TTAAAGTA others(8): Show |
T | intron_variant | MODIFIER | HG03041.hp1 HG03139.hp1 HG03195.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0002c0002t0010 | a0001c0001t0001g0002 a0001c0001t0001g0056 a0001c0001t0001g0063 others(2): Show |
5 | 104 | 0.0481 | -15 | c.349 others(33): Show |
MAGI1 | ENSG00000151276.24 | transcript | ENST00000402939.7 | protein_coding | 21/22 | chr3 | TogoVar | |||||||
MAGI1_chr3_65348526_66043918 | 65364165 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 104 | 0.0096 | -15 | c.335 others(32): Show |
MAGI1 | ENSG00000151276.24 | transcript | ENST00000402939.7 | protein_coding | 20/22 | chr3 | TogoVar | |||||||
MAGI1_chr3_65348526_66043918 | 65400750 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG03139.hp1 HG03195.hp2 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0010a0004c0004t0001 | a0001c0001t0001g0002 a0001c0001t0001g0063 a0002c0002t0010g0013 others(1): Show |
4 | 104 | 0.0385 | -15 | c.219 others(32): Show |
MAGI1 | ENSG00000151276.24 | transcript | ENST00000402939.7 | protein_coding | 13/22 | chr3 | TogoVar | |||||||
MAGI1_chr3_65348526_66043918 | 65469885 | CAATATAT others(8): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02630.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0009a0001c0005t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0086 a0001c0001t0009g0007 others(4): Show |
7 | 104 | 0.0673 | -15 | c.959 others(30): Show |
MAGI1 | ENSG00000151276.24 | transcript | ENST00000402939.7 | protein_coding | 5/22 | chr3 | TogoVar | |||||||
MAGI1_chr3_65348526_66043918 | 65516718 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG03041.hp1 NA18522.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0002c0002t0002others(1): Show | a0001c0001t0001g0086 a0001c0001t0009g0007 a0002c0002t0002g0084 others(1): Show |
4 | 104 | 0.0385 | -15 | c.431 others(34): Show |
MAGI1 | ENSG00000151276.24 | transcript | ENST00000402939.7 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
MAGI1_chr3_65348526_66043918 | 65529802 | GTATATAC others(8): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01884.hp2 HG03139.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0013a0002c0002t0010 | a0001c0001t0001g0002 a0001c0001t0001g0064 a0001c0001t0001g0075 others(2): Show |
5 | 104 | 0.0481 | -15 | c.431 others(34): Show |
MAGI1 | ENSG00000151276.24 | transcript | ENST00000402939.7 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
MAGI1_chr3_65348526_66043918 | 65610865 | TATATAGT others(8): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0104 | 1 | 104 | 0.0096 | -15 | c.430 others(34): Show |
MAGI1 | ENSG00000151276.24 | transcript | ENST00000402939.7 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
MAGI1_chr3_65348526_66043918 | 65869367 | TTTGTTGT others(8): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG01361.hp1 HG03195.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0007 | a0001c0001t0001g0071 a0002c0002t0001g0011 a0002c0002t0001g0060 others(1): Show |
4 | 104 | 0.0385 | -15 | c.313 others(36): Show |
MAGI1 | ENSG00000151276.24 | transcript | ENST00000402939.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
MAGI1_chr3_65348526_66043918 | 66006805 | GGTTTTGT others(8): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0067 | 1 | 104 | 0.0096 | -15 | c.313 others(34): Show |
MAGI1 | ENSG00000151276.24 | transcript | ENST00000402939.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 78358191 | AAAAAAAT others(8): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0012 | 1 | 40 | 0.0250 | -15 | c.110 others(36): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 7/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 78358197 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0030 | 1 | 40 | 0.0250 | -15 | c.110 others(36): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 7/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 78450272 | GAATTCAT others(8): Show |
G | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0032 | 1 | 40 | 0.0250 | -15 | c.104 others(36): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 6/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 78584421 | GAAAAAAA others(8): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG02965.hp2 NA20129.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0017 a0001c0001t0002g0035 a0001c0002t0001g0010 others(1): Show |
4 | 40 | 0.1000 | -15 | c.538 others(34): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 3/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 78687969 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 40 | 0.0250 | -15 | c.419 others(34): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 78728540 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG02897.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0011others(1): Show | a0001c0001t0002a0001c0004t0001a0001c0011t0001others(1): Show | a0001c0001t0002g0029 a0001c0004t0001g0031 a0001c0011t0001g0023 others(1): Show |
4 | 40 | 0.1000 | -15 | c.419 others(36): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 78775320 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG02451.hp1 HG03130.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(5): Show | a0001c0001t0001g0007 a0001c0002t0001g0010 a0001c0002t0005g0003 others(5): Show |
8 | 40 | 0.2000 | -15 | c.419 others(36): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 78806867 | CAAAATAA others(8): Show |
C | intron_variant | MODIFIER | HG03225.hp2 NA20129.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0010 a0001c0002t0005g0003 |
2 | 40 | 0.0500 | -15 | c.419 others(36): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 79191402 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0001 | 1 | 40 | 0.0250 | -15 | c.302 others(36): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
MAGI3_chr1_113385515_113690923 | 113437849 | TTCTTCTT others(8): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG02129.hp1 HG02559.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0167 others(10): Show |
13 | 236 | 0.0551 | -15 | c.316 others(34): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAGI3_chr1_113385515_113690923 | 113633238 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 236 | 0.0042 | -15 | c.136 others(34): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAGI3_chr1_113385515_113690923 | 113641029 | ATGATATA others(8): Show |
A | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0214 | 1 | 236 | 0.0042 | -15 | c.136 others(32): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 9/20 | chr1 | TogoVar | |||||||
MAGOHB_chr12_10599193_10618609 | 10612190 | AATAACAT others(8): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG02109.hp2 HG04115.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0002g0152 others(1): Show |
4 | 380 | 0.0105 | -15 | c.94+ others(30): Show |
MAGOHB | ENSG00000111196.10 | transcript | ENST00000320756.7 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
MAGT1_chrX_77820747_77900435 | 77830970 | TTTTTATT others(8): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG02083.hp1 HG02280.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0051 a0001c0001t0001g0065 a0001c0001t0001g0070 others(5): Show |
8 | 260 | 0.0308 | -15 | c.902 others(28): Show |
MAGT1 | ENSG00000102158.22 | transcript | ENST00000618282.5 | protein_coding | 8/9 | chrX | TogoVar | |||||||
MAGT1_chrX_77820747_77900435 | 77877812 | CAAAATAA others(8): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG02135.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 a0001c0001t0001g0157 a0001c0001t0001g0172 |
3 | 260 | 0.0115 | -15 | c.103 others(32): Show |
MAGT1 | ENSG00000102158.22 | transcript | ENST00000618282.5 | protein_coding | 1/9 | chrX | TogoVar | |||||||
MAJIN_chr11_64933230_64977108 | 64948627 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02897.hp1 NA18941.hp1 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0127 a0001c0001t0001g0359 |
3 | 384 | 0.0078 | -15 | c.350 others(30): Show |
MAJIN | ENSG00000168070.12 | transcript | ENST00000301896.6 | protein_coding | 6/10 | chr11 | TogoVar | |||||||
MAJIN_chr11_64933230_64977108 | 64948635 | ATATATTT others(8): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0334 | 1 | 384 | 0.0026 | -15 | c.350 others(30): Show |
MAJIN | ENSG00000168070.12 | transcript | ENST00000301896.6 | protein_coding | 6/10 | chr11 | TogoVar | |||||||
MAK16_chr8_33480182_33506262 | 33495685 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0161 | 1 | 400 | 0.0025 | -15 | c.522 others(30): Show |
MAK16 | ENSG00000198042.11 | transcript | ENST00000360128.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MAK_chr6_10757723_10843539 | 10813121 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG01928.hp1 HG01952.hp1 HG02027.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0003 | a0001c0001t0012g0227 a0001c0002t0003g0021 a0001c0002t0003g0022 others(3): Show |
6 | 272 | 0.0221 | -15 | c.358 others(30): Show |
MAK | ENSG00000111837.12 | transcript | ENST00000354489.7 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
MALL_chr2_110078870_110120822 | 110113618 | AATCAGTA others(8): Show |
A | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 335 | 0.0030 | -15 | c.105 others(32): Show |
MALL | ENSG00000144063.4 | transcript | ENST00000272462.3 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19157118 | TTTCCAGT others(8): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG02615.hp1 HG03041.hp1 others(3): Show |
a0031a0060a0071others(3): Show | a0031c0085a0060c0055a0071c0048others(3): Show | a0031c0085t0001a0060c0055t0001a0071c0048t0002others(3): Show | a0031c0085t0001g0052 a0060c0055t0001g0108 a0071c0048t0002g0087 others(3): Show |
6 | 152 | 0.0395 | -15 | c.165 others(34): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 12/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19315185 | TAAATATA others(8): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG02572.hp1 HG03041.hp2 others(1): Show |
a0021a0032a0056others(1): Show | a0021c0116a0032c0037a0056c0117others(1): Show | a0021c0116t0002a0032c0037t0001a0056c0117t0002others(1): Show | a0021c0116t0002g0085 a0032c0037t0001g0121 a0056c0117t0002g0088 others(1): Show |
4 | 152 | 0.0263 | -15 | c.342 others(34): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 21/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19365659 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00642.hp1 others(71): Show |
a0001a0003a0004others(44): Show | a0001c0001a0001c0003a0001c0052others(59): Show | a0001c0001t0001a0001c0003t0001a0001c0052t0001others(61): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0054 others(71): Show |
74 | 152 | 0.4868 | -15 | c.444 others(36): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 26/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19547801 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG03453.hp2 NA21309.hp1 |
a0042a0077a0096 | a0042c0049a0077c0083a0096c0087 | a0042c0049t0001a0077c0083t0001a0096c0087t0003 | a0042c0049t0001g0022 a0077c0083t0001g0043 a0096c0087t0003g0106 |
3 | 152 | 0.0197 | -15 | c.547 others(36): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 32/39 | chr10 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19547803 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG04228.hp1 | a0086 | a0086c0034 | a0086c0034t0003 | a0086c0034t0003g0112 | 1 | 152 | 0.0066 | -15 | c.547 others(36): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 32/39 | chr10 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19687910 | AATGTTAT others(8): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01109.hp1 HG01256.hp1 others(45): Show |
a0001a0003a0004others(37): Show | a0001c0003a0001c0052a0001c0076others(41): Show | a0001c0003t0001a0001c0052t0001a0001c0076t0002others(41): Show | a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0052t0001g0116 others(45): Show |
48 | 152 | 0.3158 | -15 | c.613 others(34): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 36/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19718122 | AGAAGAGG others(8): Show |
A | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0011 | a0011c0006 | a0011c0006t0001 | a0011c0006t0001g0050 a0011c0006t0001g0051 |
2 | 152 | 0.0132 | -15 | c.631 others(36): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 38/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAL_chr2_95020708_95058992 | 95039712 | GGACTGAG others(8): Show |
G | intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 324 | 0.0031 | -15 | c.94- others(30): Show |
MAL | ENSG00000172005.11 | transcript | ENST00000309988.9 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
MAML1_chr5_179727822_179782283 | 179752339 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02630.hp1 HG02922.hp2 others(6): Show |
a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0003 a0002c0003t0006g0023 a0002c0003t0006g0024 others(4): Show |
9 | 360 | 0.0250 | -15 | c.316 others(34): Show |
MAML1 | ENSG00000161021.13 | transcript | ENST00000292599.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MAML2_chr11_95971598_96348195 | 96019671 | CTGATAAT others(8): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01123.hp1 HG01123.hp2 others(23): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0128 a0001c0001t0001g0172 a0001c0001t0001g0176 others(23): Show |
26 | 230 | 0.1130 | -15 | c.214 others(36): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
MAML2_chr11_95971598_96348195 | 96066619 | TAAAGAGT others(8): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0221 | 1 | 230 | 0.0044 | -15 | c.213 others(36): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
MAML2_chr11_95971598_96348195 | 96121950 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02895.hp2 HG02897.hp2 |
a0006 | a0006c0011 | a0006c0011t0003a0006c0011t0008 | a0006c0011t0003g0092 a0006c0011t0003g0093 a0006c0011t0008g0129 |
3 | 230 | 0.0130 | -15 | c.514 others(34): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
MAML3_chr4_139711753_140159184 | 139889909 | TTGCTGCT others(8): Show |
T | disruptive_inframe_deletion | MODERATE | HG02258.hp1 | a0009 | a0009c0028 | a0009c0028t0001 | a0009c0028t0001g0059 | 1 | 152 | 0.0066 | -15 | c.151 others(24): Show |
p.Gln others(13): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 2/5 | 2383/6844 | 1512/3417 | 504/1138 | chr4 | TogoVar | |||
MAML3_chr4_139711753_140159184 | 140069348 | GAGAAGGA others(8): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01192.hp2 HG03017.hp2 others(5): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0006others(2): Show | a0001c0001t0007a0001c0001t0018a0001c0001t0020others(4): Show | a0001c0001t0007g0091 a0001c0001t0018g0111 a0001c0001t0018g0114 others(5): Show |
8 | 152 | 0.0526 | -15 | c.468 others(34): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
MAML3_chr4_139711753_140159184 | 140069408 | GAGGAGGA others(8): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG02280.hp1 others(7): Show |
a0001a0002a0005others(1): Show | a0001c0002a0002c0003a0005c0008others(1): Show | a0001c0002t0001a0001c0002t0016a0001c0002t0026others(4): Show | a0001c0002t0001g0082 a0001c0002t0016g0006 a0001c0002t0016g0007 others(7): Show |
10 | 152 | 0.0658 | -15 | c.468 others(34): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
MAML3_chr4_139711753_140159184 | 140073267 | AGCTGGGA others(8): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0083 | 1 | 152 | 0.0066 | -15 | c.468 others(34): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
MAMLD1_chrX_150358317_150519173 | 150398252 | GAGAAGAA others(8): Show |
G | intron_variant | MODIFIER | NA18977.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0139 a0001c0001t0008g0226 |
2 | 226 | 0.0089 | -15 | c.-64 others(34): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar |