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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAGI2_chr7_78012055_79458667 | 78645047 | AAGCATGT others(6): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG03041.hp1 HG03130.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0003t0002a0001c0003t0003others(3): Show | a0001c0002t0001g0010 a0001c0002t0001g0024 a0001c0003t0002g0012 others(4): Show |
7 | 40 | 0.1750 | -13 | c.419 others(32): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 78728540 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02897.hp1 HG03041.hp1 HG03486.hp1 others(2): Show |
a0001 | a0001c0002a0001c0004a0001c0005others(1): Show | a0001c0002t0001a0001c0004t0001a0001c0005t0001others(1): Show | a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0004t0001g0034 others(2): Show |
5 | 40 | 0.1250 | -13 | c.419 others(34): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 78925567 | ATTGCCTT others(6): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 40 | 0.0250 | -13 | c.418 others(32): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 79292770 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG02897.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0011a0001c0012 | a0001c0001t0001a0001c0011t0001a0001c0012t0001 | a0001c0001t0001g0015 a0001c0011t0001g0023 a0001c0012t0001g0022 |
3 | 40 | 0.0750 | -13 | c.301 others(34): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 79368847 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG03041.hp2 HG03486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0001 | a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0002g0006 others(2): Show |
5 | 40 | 0.1250 | -13 | c.301 others(32): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
MAGI3_chr1_113385515_113690923 | 113416271 | AATTAATT others(6): Show |
A | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0057 | 1 | 236 | 0.0042 | -13 | c.316 others(32): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAGI3_chr1_113385515_113690923 | 113470130 | TTTATCTG others(6): Show |
T | intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0071 | 1 | 236 | 0.0042 | -13 | c.316 others(32): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAGI3_chr1_113385515_113690923 | 113503219 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01070.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0018 others(34): Show |
37 | 236 | 0.1568 | -13 | c.317 others(32): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAGI3_chr1_113385515_113690923 | 113503309 | GAAAAAAA others(6): Show |
G | intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015 | 1 | 236 | 0.0042 | -13 | c.317 others(32): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAGT1_chrX_77820747_77900435 | 77878289 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0009 |
2 | 260 | 0.0077 | -13 | c.103 others(30): Show |
MAGT1 | ENSG00000102158.22 | transcript | ENST00000618282.5 | protein_coding | 1/9 | chrX | TogoVar | |||||||
MAJIN_chr11_64933230_64977108 | 64939235 | GGTATCAC others(6): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01071.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0368 a0001c0001t0001g0369 others(11): Show |
15 | 384 | 0.0391 | -13 | c.*1+ others(26): Show |
MAJIN | ENSG00000168070.12 | transcript | ENST00000301896.6 | protein_coding | 10/10 | chr11 | TogoVar | |||||||
MAJIN_chr11_64933230_64977108 | 64948626 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 384 | 0.0026 | -13 | c.350 others(28): Show |
MAJIN | ENSG00000168070.12 | transcript | ENST00000301896.6 | protein_coding | 6/10 | chr11 | TogoVar | |||||||
MAJIN_chr11_64933230_64977108 | 64948627 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02129.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0128 |
2 | 384 | 0.0052 | -13 | c.350 others(28): Show |
MAJIN | ENSG00000168070.12 | transcript | ENST00000301896.6 | protein_coding | 6/10 | chr11 | TogoVar | |||||||
MAJIN_chr11_64933230_64977108 | 64948629 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 384 | 0.0026 | -13 | c.350 others(28): Show |
MAJIN | ENSG00000168070.12 | transcript | ENST00000301896.6 | protein_coding | 6/10 | chr11 | TogoVar | |||||||
MAJIN_chr11_64933230_64977108 | 64948633 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 384 | 0.0026 | -13 | c.350 others(28): Show |
MAJIN | ENSG00000168070.12 | transcript | ENST00000301896.6 | protein_coding | 6/10 | chr11 | TogoVar | |||||||
MAJIN_chr11_64933230_64977108 | 64967406 | CAAAAAAG others(6): Show |
C | intron_variant | MODIFIER | NA18973.hp2 NA18983.hp2 NA18986.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 a0001c0001t0001g0350 a0001c0001t0001g0351 others(2): Show |
5 | 384 | 0.0130 | -13 | c.-65 others(30): Show |
MAJIN | ENSG00000168070.12 | transcript | ENST00000301896.6 | protein_coding | 1/10 | chr11 | TogoVar | |||||||
MAK_chr6_10757723_10843539 | 10813123 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 272 | 0.0037 | -13 | c.358 others(28): Show |
MAK | ENSG00000111837.12 | transcript | ENST00000354489.7 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19070836 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG02976.hp2 NA19030.hp2 others(1): Show |
a0023a0061a0070others(1): Show | a0023c0016a0061c0056a0070c0066others(1): Show | a0023c0016t0001a0061c0056t0002a0070c0066t0001others(1): Show | a0023c0016t0001g0096 a0061c0056t0002g0147 a0070c0066t0001g0012 others(1): Show |
4 | 152 | 0.0263 | -13 | c.340 others(30): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19264450 | CTTTTTCT others(6): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG01123.hp1 HG01192.hp2 others(19): Show |
a0001a0003a0004others(15): Show | a0001c0003a0001c0052a0003c0028others(17): Show | a0001c0003t0001a0001c0052t0001a0003c0028t0001others(17): Show | a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0052t0001g0116 others(19): Show |
22 | 152 | 0.1447 | -13 | c.307 others(32): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 19/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19547803 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG00544.hp1 | a0030 | a0030c0104 | a0030c0104t0001 | a0030c0104t0001g0016 | 1 | 152 | 0.0066 | -13 | c.547 others(34): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 32/39 | chr10 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19547806 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02602.hp1 | a0058 | a0058c0080 | a0058c0080t0001 | a0058c0080t0001g0058 | 1 | 152 | 0.0066 | -13 | c.547 others(34): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 32/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19547812 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0063 | a0063c0069 | a0063c0069t0002 | a0063c0069t0002g0089 | 1 | 152 | 0.0066 | -13 | c.547 others(34): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 32/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19620006 | CAATAATA others(6): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00642.hp1 others(42): Show |
a0003a0008a0009others(24): Show | a0003c0020a0003c0027a0003c0028others(34): Show | a0003c0020t0001a0003c0020t0002a0003c0027t0001others(37): Show | a0003c0020t0001g0053 a0003c0020t0002g0086 a0003c0027t0001g0060 others(42): Show |
45 | 152 | 0.2961 | -13 | c.613 others(32): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 36/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19722590 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG02071.hp2 HG02132.hp2 NA18957.hp2 others(2): Show |
a0001a0026a0046others(1): Show | a0001c0003a0026c0098a0046c0057others(1): Show | a0001c0003t0001a0026c0098t0001a0046c0057t0001others(1): Show | a0001c0003t0001g0114 a0001c0003t0001g0115 a0026c0098t0001g0040 others(2): Show |
5 | 152 | 0.0329 | -13 | c.631 others(32): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 38/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALSU1_chr7_23294339_23316729 | 23315116 | TTTTTATT others(6): Show |
T | downstream_gene_variant | MODIFIER | HG02523.hp1 HG02523.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0012 |
3 | 434 | 0.0069 | -13 | c.*55 others(24): Show |
MALSU1 | ENSG00000156928.5 | transcript | ENST00000466681.2 | protein_coding | 3388 | chr7 | TogoVar | |||||||
MALT1_chr18_58666465_58759477 | 58738083 | CCTACATC others(6): Show |
C | intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0290 | 1 | 406 | 0.0025 | -13 | c.160 others(32): Show |
MALT1 | ENSG00000172175.16 | transcript | ENST00000649217.2 | protein_coding | 13/16 | chr18 | TogoVar | |||||||
MAMDC2_chr9_70038848_70231972 | 70078030 | ATAATTTT others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(177): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0002c0008others(17): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(25): Show | a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0033 others(175): Show |
180 | 340 | 0.5294 | -13 | c.149 others(32): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 2/13 | chr9 | TogoVar | |||||||
MAML2_chr11_95971598_96348195 | 95981526 | GATACGTA others(6): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG03130.hp1 |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0048 | a0001c0002t0001g0097 a0003c0005t0048g0230 |
2 | 230 | 0.0087 | -13 | c.245 others(32): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 4/4 | chr11 | TogoVar | |||||||
MAML2_chr11_95971598_96348195 | 95983143 | TGTTATTG others(6): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0006 | a0006c0011 | a0006c0011t0008 | a0006c0011t0008g0129 | 1 | 230 | 0.0044 | -13 | c.245 others(32): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 4/4 | chr11 | TogoVar | |||||||
MAML2_chr11_95971598_96348195 | 96025843 | AAGCCACC others(6): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG02630.hp2 HG02922.hp1 others(3): Show |
a0001a0006 | a0001c0001a0001c0020a0006c0011 | a0001c0001t0001a0001c0001t0004a0001c0001t0019others(2): Show | a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0004g0171 others(3): Show |
6 | 230 | 0.0261 | -13 | c.214 others(34): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
MAML2_chr11_95971598_96348195 | 96100734 | GCTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG02965.hp1 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0024 | a0001c0001t0009g0080 a0001c0001t0024g0026 |
2 | 230 | 0.0087 | -13 | c.514 others(30): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
MAML2_chr11_95971598_96348195 | 96121950 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00642.hp1 others(33): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0119 others(33): Show |
36 | 230 | 0.1565 | -13 | c.514 others(32): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
MAML2_chr11_95971598_96348195 | 96202177 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01109.hp2 others(8): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(7): Show | a0001c0001t0002g0012 a0001c0001t0003g0136 a0001c0001t0013g0057 others(8): Show |
11 | 230 | 0.0478 | -13 | c.514 others(34): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
MAML2_chr11_95971598_96348195 | 96240557 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0026 | 1 | 230 | 0.0044 | -13 | c.513 others(34): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
MAML2_chr11_95971598_96348195 | 96243619 | GCTGAAAG others(6): Show |
G | intron_variant | MODIFIER | HG03209.hp2 HG03516.hp2 |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0039a0005c0009t0005 | a0001c0001t0039g0179 a0005c0009t0005g0076 |
2 | 230 | 0.0087 | -13 | c.513 others(32): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
MAML3_chr4_139711753_140159184 | 139729156 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG03195.hp2 HG03579.hp2 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0014a0001c0002t0026a0001c0010t0002 | a0001c0002t0014g0148 a0001c0002t0026g0002 a0001c0010t0002g0092 |
3 | 152 | 0.0197 | -13 | c.233 others(32): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
MAML3_chr4_139711753_140159184 | 139819828 | GACAAAAG others(6): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(31): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0020others(20): Show | a0001c0001t0001g0034 a0001c0001t0001g0052 a0001c0001t0006g0129 others(31): Show |
34 | 152 | 0.2237 | -13 | c.207 others(34): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
MAML3_chr4_139711753_140159184 | 139842762 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0003 | a0002c0003t0046 | a0002c0003t0046g0149 | 1 | 152 | 0.0066 | -13 | c.207 others(34): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
MAML3_chr4_139711753_140159184 | 139965468 | TGCCTTTG others(6): Show |
T | intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0003 | a0002c0003t0022 | a0002c0003t0022g0150 | 1 | 152 | 0.0066 | -13 | c.469 others(32): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
MAMLD1_chrX_150358317_150519173 | 150396149 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 226 | 0.0044 | -13 | c.-64 others(32): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MAMLD1_chrX_150358317_150519173 | 150427564 | ACCTGTCT others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(126): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0016 others(126): Show |
129 | 226 | 0.5708 | -13 | c.-63 others(32): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MAN1A1_chr6_119172205_119354761 | 119182097 | ACTGTGGT others(6): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 350 | 0.0029 | -13 | c.172 others(32): Show |
MAN1A1 | ENSG00000111885.7 | transcript | ENST00000368468.4 | protein_coding | 11/12 | chr6 | TogoVar | |||||||
MAN1A1_chr6_119172205_119354761 | 119275277 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00642.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0157 a0001c0001t0001g0292 a0001c0001t0001g0303 others(32): Show |
35 | 350 | 0.1000 | -13 | c.897 others(32): Show |
MAN1A1 | ENSG00000111885.7 | transcript | ENST00000368468.4 | protein_coding | 5/12 | chr6 | TogoVar | |||||||
MAN1A2_chr1_117362449_117533872 | 117401808 | CTTATTTT others(6): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0110 | a0001c0001t0110g0029 | 1 | 370 | 0.0027 | -13 | c.303 others(28): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAN1A2_chr1_117362449_117533872 | 117482708 | GTAGTTTC others(6): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG01256.hp2 HG01358.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0056a0001c0001t0057others(19): Show | a0001c0001t0017g0232 a0001c0001t0017g0246 a0001c0001t0056g0255 others(22): Show |
25 | 370 | 0.0676 | -13 | c.116 others(34): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 8/12 | chr1 | TogoVar | |||||||
MAN1C1_chr1_25611791_25789450 | 25616730 | TGGGCGTG others(6): Show |
T | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01071.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0029 a0001c0002t0001g0228 a0001c0002t0001g0230 others(5): Show |
8 | 250 | 0.0320 | -13 | c.-10 others(24): Show |
MAN1C1 | ENSG00000117643.16 | transcript | ENST00000374332.9 | protein_coding | 60 | chr1 | TogoVar | |||||||
MAN2A1_chr5_109684927_109874625 | 109769132 | AACCTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0241 | 1 | 296 | 0.0034 | -13 | c.101 others(32): Show |
MAN2A1 | ENSG00000112893.10 | transcript | ENST00000261483.5 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MANBA_chr4_102625770_102765968 | 102709390 | GAAAGAAA others(6): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0011a0002c0002t0022 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(11): Show |
14 | 280 | 0.0500 | -13 | c.673 others(30): Show |
MANBA | ENSG00000109323.11 | transcript | ENST00000647097.2 | protein_coding | 5/16 | chr4 | TogoVar | |||||||
MANBA_chr4_102625770_102765968 | 102761830 | CTTATTTC others(6): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0101 | 1 | 280 | 0.0036 | -13 | c.-94 others(22): Show |
MANBA | ENSG00000109323.11 | transcript | ENST00000647097.2 | protein_coding | 863 | chr4 | TogoVar | |||||||
MANEAL_chr1_37788847_37806133 | 37791611 | CATCCCAG others(6): Show |
C | upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 438 | 0.0023 | -13 | c.-25 others(24): Show |
MANEAL | ENSG00000185090.15 | transcript | ENST00000373045.11 | protein_coding | 2235 | chr1 | TogoVar |