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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAK_chr6_10757723_10843539 | 10833606 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01168.hp1 HG01169.hp1 |
a0001a0003 | a0001c0002a0003c0012 | a0001c0002t0003a0003c0012t0002 | a0001c0002t0003g0091 a0001c0002t0003g0092 a0003c0012t0002g0087 |
3 | 272 | 0.0110 | 9 | c.-22 others(28): Show |
MAK | ENSG00000111837.12 | transcript | ENST00000354489.7 | protein_coding | 1/14 | chr6 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19176366 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01081.hp2 HG01123.hp1 others(7): Show |
a0003a0005a0012others(6): Show | a0003c0028a0005c0004a0005c0024others(7): Show | a0003c0028t0001a0005c0004t0001a0005c0024t0001others(7): Show | a0003c0028t0001g0101 a0005c0004t0001g0026 a0005c0024t0001g0127 others(7): Show |
10 | 152 | 0.0658 | 9 | c.195 others(28): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 14/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19238532 | C | CATAATGT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01081.hp2 HG01256.hp2 others(10): Show |
a0002a0011a0026others(7): Show | a0002c0002a0011c0006a0026c0098others(7): Show | a0002c0002t0001a0011c0006t0001a0026c0098t0001others(7): Show | a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0119 others(10): Show |
13 | 152 | 0.0855 | 9 | c.299 others(30): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 18/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19238532 | C | CATTATGT others(2): Show |
intron_variant | MODIFIER | HG03209.hp2 NA18960.hp1 |
a0022a0026 | a0022c0041a0026c0097 | a0022c0041t0004a0026c0097t0001 | a0022c0041t0004g0063 a0026c0097t0001g0104 |
2 | 152 | 0.0132 | 9 | c.299 others(30): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 18/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19355858 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02055.hp1 HG02622.hp2 others(9): Show |
a0001a0024a0031others(8): Show | a0001c0052a0001c0076a0024c0115others(9): Show | a0001c0052t0001a0001c0076t0002a0024c0115t0001others(9): Show | a0001c0052t0001g0116 a0001c0076t0002g0075 a0024c0115t0001g0021 others(9): Show |
12 | 152 | 0.0790 | 9 | c.444 others(28): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 26/39 | chr10 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19509940 | A | ACGGAGGA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG01081.hp1 others(13): Show |
a0008a0014a0023others(9): Show | a0008c0005a0014c0013a0023c0016others(9): Show | a0008c0005t0001a0014c0013t0001a0014c0013t0002others(11): Show | a0008c0005t0001g0033 a0008c0005t0001g0034 a0008c0005t0001g0094 others(13): Show |
16 | 152 | 0.1053 | 9 | c.532 others(30): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 31/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19526365 | A | ATACATAT others(2): Show |
intron_variant | MODIFIER | NA18522.hp1 NA18988.hp1 NA19088.hp1 others(1): Show |
a0001a0017a0097 | a0001c0003a0017c0017a0097c0087 | a0001c0003t0001a0017c0017t0001a0097c0087t0003 | a0001c0003t0001g0114 a0001c0003t0001g0115 a0017c0017t0001g0107 others(1): Show |
4 | 152 | 0.0263 | 9 | c.532 others(28): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 31/39 | chr10 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19547819 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01975.hp2 NA18522.hp2 others(2): Show |
a0027a0037a0044others(2): Show | a0027c0011a0037c0106a0044c0099others(2): Show | a0027c0011t0001a0037c0106t0001a0044c0099t0001others(2): Show | a0027c0011t0001g0102 a0037c0106t0001g0047 a0044c0099t0001g0048 others(2): Show |
5 | 152 | 0.0329 | 9 | c.547 others(30): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 32/39 | chr10 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19568366 | G | GTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG00642.hp2 others(25): Show |
a0009a0015a0020others(22): Show | a0009c0040a0009c0071a0015c0010others(24): Show | a0009c0040t0002a0009c0071t0001a0015c0010t0001others(24): Show | a0009c0040t0002g0067 a0009c0071t0001g0001 a0015c0010t0001g0138 others(25): Show |
28 | 152 | 0.1842 | 9 | c.568 others(26): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 33/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19699203 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01884.hp1 HG02280.hp1 others(11): Show |
a0007a0009a0010others(10): Show | a0007c0014a0009c0040a0009c0071others(11): Show | a0007c0014t0001a0009c0040t0002a0009c0071t0001others(11): Show | a0007c0014t0001g0135 a0009c0040t0002g0067 a0009c0071t0001g0001 others(11): Show |
14 | 152 | 0.0921 | 9 | c.631 others(28): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 38/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19699277 | A | AGAAAGGA others(2): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01168.hp1 HG01192.hp2 others(3): Show |
a0006a0009a0010others(3): Show | a0006c0058a0009c0073a0010c0018others(3): Show | a0006c0058t0001a0009c0073t0001a0010c0018t0002others(3): Show | a0006c0058t0001g0110 a0009c0073t0001g0032 a0010c0018t0002g0062 others(3): Show |
6 | 152 | 0.0395 | 9 | c.631 others(28): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 38/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19705804 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00741.hp2 HG01192.hp2 others(6): Show |
a0006a0007a0023others(4): Show | a0006c0012a0006c0058a0006c0111others(6): Show | a0006c0012t0001a0006c0058t0001a0006c0111t0002others(6): Show | a0006c0012t0001g0039 a0006c0058t0001g0110 a0006c0111t0002g0090 others(6): Show |
9 | 152 | 0.0592 | 9 | c.631 others(30): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 38/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAMDC2_chr9_70038848_70231972 | 70188762 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0016a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0016t0001others(4): Show | a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 others(21): Show |
25 | 340 | 0.0735 | 9 | c.165 others(30): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAMDC2_chr9_70038848_70231972 | 70215264 | T | TTACTGAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(274): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0006a0001c0014others(22): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(27): Show | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(273): Show |
277 | 340 | 0.8147 | 9 | c.165 others(28): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAML1_chr5_179727822_179782283 | 179747808 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0017 | a0001c0001t0001a0002c0002t0002a0002c0002t0011others(2): Show | a0001c0001t0001g0074 a0002c0002t0002g0005 a0002c0002t0002g0006 others(43): Show |
48 | 360 | 0.1333 | 9 | c.315 others(28): Show |
MAML1 | ENSG00000161021.13 | transcript | ENST00000292599.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MAML2_chr11_95971598_96348195 | 96106980 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00741.hp1 others(55): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0119 others(55): Show |
58 | 230 | 0.2522 | 9 | c.514 others(28): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
MAML2_chr11_95971598_96348195 | 96159407 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(26): Show |
a0001a0003a0015others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0154 a0001c0001t0002g0049 a0001c0001t0002g0082 others(26): Show |
29 | 230 | 0.1261 | 9 | c.514 others(28): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
MAML2_chr11_95971598_96348195 | 96169659 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01175.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0019 | a0001c0001t0001a0001c0001t0039a0001c0002t0001others(5): Show | a0001c0001t0001g0105 a0001c0001t0039g0179 a0001c0002t0001g0135 others(6): Show |
9 | 230 | 0.0391 | 9 | c.514 others(28): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
MAML2_chr11_95971598_96348195 | 96299058 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02922.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0019others(1): Show | a0001c0001t0001g0172 a0001c0001t0004g0171 a0001c0001t0019g0091 others(1): Show |
4 | 230 | 0.0174 | 9 | c.513 others(28): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
MAML3_chr4_139711753_140159184 | 139863832 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(8): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0001g0018 a0001c0001t0001g0109 a0001c0001t0003g0050 others(8): Show |
11 | 152 | 0.0724 | 9 | c.207 others(30): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
MAML3_chr4_139711753_140159184 | 139905491 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01243.hp2 HG01891.hp2 others(6): Show |
a0001a0003a0004others(2): Show | a0001c0011a0001c0028a0003c0006others(4): Show | a0001c0011t0001a0001c0011t0005a0001c0028t0001others(6): Show | a0001c0011t0001g0103 a0001c0011t0005g0019 a0001c0028t0001g0065 others(6): Show |
9 | 152 | 0.0592 | 9 | c.469 others(28): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
MAML3_chr4_139711753_140159184 | 139912943 | A | ATATAGCC others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02630.hp2 HG02809.hp1 others(2): Show |
a0004a0006 | a0004c0005a0006c0007 | a0004c0005t0040a0006c0007t0006a0006c0007t0013others(2): Show | a0004c0005t0040g0118 a0006c0007t0006g0122 a0006c0007t0013g0146 others(2): Show |
5 | 152 | 0.0329 | 9 | c.469 others(28): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
MAMLD1_chrX_150358317_150519173 | 150394129 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0134 | 1 | 226 | 0.0044 | 9 | c.-64 others(28): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MAMLD1_chrX_150358317_150519173 | 150398246 | G | GAGAAAGA others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0060 | 1 | 226 | 0.0044 | 9 | c.-64 others(28): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MAMLD1_chrX_150358317_150519173 | 150398252 | G | GAGAAGAA others(2): Show |
intron_variant | MODIFIER | HG02132.hp1 HG03139.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0002g0120 |
3 | 226 | 0.0133 | 9 | c.-64 others(28): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MAMLD1_chrX_150358317_150519173 | 150398337 | A | AGAGGAAG others(2): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 a0001c0001t0002g0182 |
2 | 226 | 0.0089 | 9 | c.-64 others(28): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MAMLD1_chrX_150358317_150519173 | 150403940 | A | ACAGAGAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00741.hp1 HG01070.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0005a0004c0004t0001others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0105 a0001c0001t0005g0197 others(3): Show |
6 | 226 | 0.0266 | 9 | c.-64 others(28): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 1/7 | chrX | TogoVar | |||||||
MAMLD1_chrX_150358317_150519173 | 150414028 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(64): Show |
a0001a0003a0010 | a0001c0001a0003c0003a0010c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0006 a0001c0001t0001g0052 a0001c0001t0001g0067 others(64): Show |
67 | 226 | 0.2965 | 9 | c.-63 others(28): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MAMLD1_chrX_150358317_150519173 | 150481964 | A | AGAAAGAA others(2): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 226 | 0.0044 | 9 | c.204 others(28): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 5/7 | chrX | TogoVar | |||||||
MAN1A1_chr6_119172205_119354761 | 119225425 | G | GAGGAGGA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(286): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0134 others(284): Show |
289 | 350 | 0.8257 | 9 | c.993 others(28): Show |
MAN1A1 | ENSG00000111885.7 | transcript | ENST00000368468.4 | protein_coding | 6/12 | chr6 | TogoVar | |||||||
MAN1A1_chr6_119172205_119354761 | 119260976 | G | GCTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01168.hp2 HG01192.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0005a0001c0001t0009a0001c0001t0010others(6): Show | a0001c0001t0005g0001 a0001c0001t0005g0079 a0001c0001t0005g0081 others(20): Show |
24 | 350 | 0.0686 | 9 | c.898 others(28): Show |
MAN1A1 | ENSG00000111885.7 | transcript | ENST00000368468.4 | protein_coding | 5/12 | chr6 | TogoVar | |||||||
MAN1A2_chr1_117362449_117533872 | 117464356 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00438.hp1 others(108): Show |
a0001a0004a0005 | a0001c0001a0001c0010a0004c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(50): Show | a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0145 others(107): Show |
111 | 370 | 0.3000 | 9 | c.107 others(28): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAN1C1_chr1_25611791_25789450 | 25644519 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02145.hp1 HG03041.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0018 a0001c0001t0001g0069 a0001c0005t0001g0193 |
3 | 250 | 0.0120 | 9 | c.540 others(28): Show |
MAN1C1 | ENSG00000117643.16 | transcript | ENST00000374332.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
MAN1C1_chr1_25611791_25789450 | 25719051 | C | CTTATTAT others(2): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02135.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0041 a0001c0002t0001g0188 |
2 | 250 | 0.0080 | 9 | c.638 others(28): Show |
MAN1C1 | ENSG00000117643.16 | transcript | ENST00000374332.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAN2B1_chr19_12641512_12671742 | 12649477 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01361.hp1 HG01496.hp2 others(27): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0010a0001c0015others(5): Show | a0001c0001t0001a0001c0010t0001a0001c0015t0001others(5): Show | a0001c0001t0001g0008 a0001c0001t0001g0052 a0001c0001t0001g0088 others(23): Show |
30 | 380 | 0.0790 | 9 | c.226 others(24): Show |
MAN2B1 | ENSG00000104774.13 | transcript | ENST00000456935.7 | protein_coding | 18/23 | chr19 | TogoVar | |||||||
MAN2B2_chr4_6570189_6628362 | 6579310 | C | CCACCACC others(2): Show |
intron_variant | MODIFIER | HG02300.hp2 HG02486.hp1 NA18954.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0002a0002c0002t0001 | a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0004t0002g0058 others(1): Show |
4 | 362 | 0.0111 | 9 | c.391 others(24): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAN2B2_chr4_6570189_6628362 | 6579319 | T | TCACCATC others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02071.hp1 HG02074.hp1 others(14): Show |
a0001a0002a0039 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(2): Show | a0001c0001t0001g0115 a0002c0002t0001g0013 a0002c0002t0001g0014 others(12): Show |
17 | 362 | 0.0470 | 9 | c.391 others(24): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MANF_chr3_51380291_51394397 | 51385326 | G | GGAGGAGG others(2): Show |
conservative_inframe_insertion | MODERATE | NA18979.hp2 NA18982.hp2 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0001 a0001c0001t0008g0002 |
3 | 384 | 0.0078 | 9 | c.4_1 others(13): Show |
p.Arg others(9): Show |
MANF | ENSG00000145050.19 | transcript | ENST00000528157.7 | protein_coding | 1/4 | 65/909 | 13/549 | 5/182 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
MAOA_chrX_43651299_43751817 | 43679193 | A | AAATTTTA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01069.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 others(11): Show |
14 | 283 | 0.0495 | 9 | c.74- others(24): Show |
MAOA | ENSG00000189221.11 | transcript | ENST00000338702.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MAOB_chrX_43761610_43887450 | 43795395 | G | GCAGATAT others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00735.hp1 HG02683.hp1 others(25): Show |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0002a0004c0006t0002 | a0001c0002t0002g0115 a0001c0002t0002g0123 a0001c0002t0002g0189 others(25): Show |
28 | 234 | 0.1197 | 9 | c.768 others(24): Show |
MAOB | ENSG00000069535.14 | transcript | ENST00000378069.5 | protein_coding | 7/14 | chrX | TogoVar | |||||||
MAP1LC3C_chr1_241990490_242004098 | 241998021 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 others(2): Show |
30 | 452 | 0.0664 | 9 | c.221 others(24): Show |
MAP1LC3C | ENSG00000197769.6 | transcript | ENST00000357246.4 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
MAP2K1_chr15_66381912_66496544 | 66472075 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG01515.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0004 others(4): Show |
7 | 372 | 0.0188 | 9 | c.569 others(26): Show |
MAP2K1 | ENSG00000169032.11 | transcript | ENST00000307102.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MAP2K4_chr17_12015877_12148828 | 12065258 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00639.hp1 others(94): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0018 others(94): Show |
97 | 322 | 0.3012 | 9 | c.218 others(28): Show |
MAP2K4 | ENSG00000065559.15 | transcript | ENST00000353533.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MAP2K5_chr15_67537703_67812114 | 67547110 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG02886.hp2 HG06807.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0144 others(1): Show |
4 | 278 | 0.0144 | 9 | c.136 others(26): Show |
MAP2K5 | ENSG00000137764.20 | transcript | ENST00000178640.10 | protein_coding | 1/21 | chr15 | TogoVar | |||||||
MAP2K6_chr17_69409697_69558865 | 69491730 | G | GTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(84): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003 a0001c0001t0001g0034 a0001c0001t0001g0038 others(84): Show |
87 | 260 | 0.3346 | 9 | c.17- others(26): Show |
MAP2K6 | ENSG00000108984.16 | transcript | ENST00000590474.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MAP2K6_chr17_69409697_69558865 | 69512328 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02486.hp1 HG04228.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(2): Show | a0001c0002t0001g0036 a0001c0002t0001g0098 a0001c0002t0001g0220 others(6): Show |
9 | 260 | 0.0346 | 9 | c.84- others(24): Show |
MAP2K6 | ENSG00000108984.16 | transcript | ENST00000590474.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MAP2K6_chr17_69409697_69558865 | 69557707 | G | GTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00558.hp1 others(75): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(23): Show | a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0034 others(75): Show |
78 | 260 | 0.3000 | 9 | c.*15 others(22): Show |
MAP2K6 | ENSG00000108984.16 | transcript | ENST00000590474.7 | protein_coding | 3843 | chr17 | TogoVar | |||||||
MAP2_chr2_209419047_209739112 | 209535558 | C | CAAAGTGT others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03098.hp1 HG03195.hp2 |
a0002 | a0002c0005 | a0002c0005t0011a0002c0005t0027 | a0002c0005t0011g0071 a0002c0005t0011g0072 a0002c0005t0027g0070 |
3 | 148 | 0.0203 | 9 | c.-17 others(30): Show |
MAP2 | ENSG00000078018.22 | transcript | ENST00000682079.1 | protein_coding | 2/15 | chr2 | TogoVar | |||||||
MAP2_chr2_209419047_209739112 | 209540660 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02080.hp1 HG02886.hp2 others(8): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0008others(1): Show | a0001c0001t0007a0002c0002t0005a0002c0002t0012others(5): Show | a0001c0001t0007g0049 a0002c0002t0005g0033 a0002c0002t0005g0039 others(8): Show |
11 | 148 | 0.0743 | 9 | c.-17 others(30): Show |
MAP2 | ENSG00000078018.22 | transcript | ENST00000682079.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MAP2_chr2_209419047_209739112 | 209621257 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02559.hp1 HG02647.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0002a0001c0001t0034a0001c0003t0018others(1): Show | a0001c0001t0002g0029 a0001c0001t0002g0085 a0001c0001t0002g0086 others(5): Show |
8 | 148 | 0.0541 | 9 | c.-10 others(28): Show |
MAP2 | ENSG00000078018.22 | transcript | ENST00000682079.1 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |