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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAD1L1_chr7_1810795_2237945 | 1861477 | T | TGGTTGGA others(23): Show |
intron_variant | MODIFIER | HG03831.hp1 HG03927.hp1 HG04199.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0001g0100 |
3 | 264 | 0.0114 | 30 | c.199 others(51): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 18/18 | chr7 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1930281 | T | TCCCCTAC others(23): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0092 | 1 | 264 | 0.0038 | 30 | c.180 others(49): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 2067175 | G | GGGGTCAT others(23): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00735.hp2 others(10): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0003 | a0001c0004t0001g0092 a0001c0004t0001g0093 a0001c0004t0001g0094 others(10): Show |
13 | 264 | 0.0492 | 30 | c.121 others(49): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 12/18 | chr7 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 2067293 | C | CCGGGGTC others(23): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 264 | 0.0038 | 30 | c.121 others(49): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 12/18 | chr7 | TogoVar | |||||||
MAEA_chr4_1284891_1345137 | 1297454 | C | CGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02647.hp1 HG02886.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0005others(1): Show | a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0003t0001g0175 others(5): Show |
8 | 388 | 0.0206 | 30 | c.69+ others(45): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAGEA12_chrX_152728757_152742669 | 152730009 | T | TATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 HG03195.hp1 HG03471.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0026 |
8 | 322 | 0.0248 | 30 | c.-40 others(41): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3747 | chrX | TogoVar | |||||||
MAGED4B_chrX_52056827_52074183 | 52060535 | T | TTGTGTGT others(23): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG02027.hp1 HG02129.hp1 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(2): Show |
9 | 216 | 0.0417 | 30 | c.*14 others(41): Show |
MAGED4B | ENSG00000187243.17 | transcript | ENST00000335504.10 | protein_coding | 1291 | chrX | TogoVar | |||||||
MAGED4_chrX_52179888_52197268 | 52193536 | A | AACACACA others(23): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG01257.hp1 HG02027.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(1): Show |
7 | 220 | 0.0318 | 30 | c.*14 others(41): Show |
MAGED4 | ENSG00000154545.17 | transcript | ENST00000471932.6 | protein_coding | 1269 | chrX | TogoVar | |||||||
MAGI1_chr3_65348526_66043918 | 65395636 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01261.hp1 HG03225.hp1 |
a0002a0005 | a0002c0002a0005c0006 | a0002c0002t0001a0005c0006t0001 | a0002c0002t0001g0011 a0005c0006t0001g0100 |
2 | 104 | 0.0192 | 30 | c.220 others(49): Show |
MAGI1 | ENSG00000151276.24 | transcript | ENST00000402939.7 | protein_coding | 13/22 | chr3 | TogoVar | |||||||
MAGI1_chr3_65348526_66043918 | 65880908 | C | CGTGTGTG others(23): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0078 | 1 | 104 | 0.0096 | 30 | c.313 others(51): Show |
MAGI1 | ENSG00000151276.24 | transcript | ENST00000402939.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 78057999 | A | ATGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02897.hp2 HG02965.hp2 NA19240.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0017 a0001c0002t0001g0010 a0001c0004t0001g0016 others(1): Show |
4 | 40 | 0.1000 | 30 | c.370 others(51): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 21/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 78169478 | G | GCATGTCT others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(15): Show | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(33): Show |
36 | 40 | 0.9000 | 30 | c.240 others(49): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 14/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 78328530 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG00738.hp1 HG03486.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0015 a0001c0002t0001g0010 a0001c0005t0001g0005 |
3 | 40 | 0.0750 | 30 | c.140 others(51): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 9/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 79228354 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 40 | 0.0250 | 30 | c.302 others(51): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 79367858 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG03486.hp2 HG03579.hp2 NA18522.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 a0001c0002t0001g0026 a0001c0002t0001g0028 |
3 | 40 | 0.0750 | 30 | c.301 others(49): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 79449877 | C | CATATACA others(23): Show |
intron_variant | MODIFIER | HG00639.hp1 HG03486.hp2 |
a0001 | a0001c0002a0001c0015 | a0001c0002t0001a0001c0015t0001 | a0001c0002t0001g0028 a0001c0015t0001g0027 |
2 | 40 | 0.0500 | 30 | c.301 others(47): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 79449877 | C | CATATACA others(23): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0004 | 1 | 40 | 0.0250 | 30 | c.301 others(47): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 79449877 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 40 | 0.0250 | 30 | c.301 others(47): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
MAGI3_chr1_113385515_113690923 | 113437870 | T | TTCTTCTT others(23): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 236 | 0.0042 | 30 | c.316 others(49): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAGI3_chr1_113385515_113690923 | 113437876 | T | TTCTTCTT others(23): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0025 | 1 | 236 | 0.0042 | 30 | c.316 others(49): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAGI3_chr1_113385515_113690923 | 113437882 | T | TTCTTCTT others(23): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0026 | 1 | 236 | 0.0042 | 30 | c.316 others(49): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAGI3_chr1_113385515_113690923 | 113484713 | C | CTCCCTTC others(23): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02897.hp1 HG04204.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 a0001c0001t0001g0182 a0001c0001t0001g0188 others(1): Show |
4 | 236 | 0.0170 | 30 | c.317 others(49): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAGT1_chrX_77820747_77900435 | 77834291 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG04115.hp1 NA18969.hp1 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0121 a0001c0001t0001g0125 |
3 | 260 | 0.0115 | 30 | c.902 others(47): Show |
MAGT1 | ENSG00000102158.22 | transcript | ENST00000618282.5 | protein_coding | 8/9 | chrX | TogoVar | |||||||
MAK_chr6_10757723_10843539 | 10815912 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 | 1 | 272 | 0.0037 | 30 | c.278 others(47): Show |
MAK | ENSG00000111837.12 | transcript | ENST00000354489.7 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19165242 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02109.hp2 HG02896.hp1 others(2): Show |
a0014a0019a0025others(2): Show | a0014c0013a0019c0009a0025c0007others(2): Show | a0014c0013t0001a0019c0009t0002a0025c0007t0001others(2): Show | a0014c0013t0001g0118 a0019c0009t0002g0070 a0025c0007t0001g0130 others(2): Show |
5 | 152 | 0.0329 | 30 | c.165 others(47): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 12/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19165265 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0031 | a0031c0085 | a0031c0085t0001 | a0031c0085t0001g0052 | 1 | 152 | 0.0066 | 30 | c.165 others(47): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 12/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19175463 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0012 | a0012c0062 | a0012c0062t0001 | a0012c0062t0001g0111 | 1 | 152 | 0.0066 | 30 | c.195 others(47): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 14/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19176366 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02109.hp1 HG03139.hp1 others(3): Show |
a0031a0048a0075others(3): Show | a0031c0085a0048c0042a0075c0084others(3): Show | a0031c0085t0001a0048c0042t0001a0075c0084t0001others(3): Show | a0031c0085t0001g0052 a0048c0042t0001g0023 a0075c0084t0001g0044 others(3): Show |
6 | 152 | 0.0395 | 30 | c.195 others(49): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 14/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19238208 | T | TATGTAAT others(23): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0060 | a0060c0055 | a0060c0055t0001 | a0060c0055t0001g0108 | 1 | 152 | 0.0066 | 30 | c.299 others(51): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 18/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19238522 | A | ATATAATA others(23): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0072 | a0072c0088 | a0072c0088t0001 | a0072c0088t0001g0013 | 1 | 152 | 0.0066 | 30 | c.299 others(51): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 18/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19341442 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0090 | a0090c0100 | a0090c0100t0001 | a0090c0100t0001g0143 | 1 | 152 | 0.0066 | 30 | c.390 others(49): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 24/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19530382 | T | TATAATAT others(23): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01074.hp1 HG01109.hp1 others(23): Show |
a0003a0008a0010others(14): Show | a0003c0020a0003c0027a0003c0039others(19): Show | a0003c0020t0001a0003c0020t0002a0003c0027t0001others(21): Show | a0003c0020t0001g0053 a0003c0020t0002g0086 a0003c0027t0001g0060 others(23): Show |
26 | 152 | 0.1711 | 30 | c.532 others(47): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 31/39 | chr10 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19692867 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03098.hp2 |
a0017a0073 | a0017c0017a0073c0044 | a0017c0017t0001a0073c0044t0002 | a0017c0017t0001g0137 a0073c0044t0002g0084 |
2 | 152 | 0.0132 | 30 | c.631 others(47): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 38/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALT1_chr18_58666465_58759477 | 58749124 | C | CTAATATA others(23): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0003 | 1 | 406 | 0.0025 | 30 | c.*12 others(41): Show |
MALT1 | ENSG00000172175.16 | transcript | ENST00000649217.2 | protein_coding | 17/17 | 1317 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
MAMDC2_chr9_70038848_70231972 | 70158806 | C | CTACACAC others(23): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0148 | 1 | 340 | 0.0029 | 30 | c.140 others(49): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 9/13 | chr9 | TogoVar | |||||||
MAMDC2_chr9_70038848_70231972 | 70221380 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02083.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0105 others(1): Show |
4 | 340 | 0.0118 | 30 | c.191 others(49): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAMDC2_chr9_70038848_70231972 | 70221380 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18946.hp2 NA18961.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0257 a0001c0001t0001g0326 others(1): Show |
4 | 340 | 0.0118 | 30 | c.191 others(49): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAMDC2_chr9_70038848_70231972 | 70221380 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 340 | 0.0029 | 30 | c.191 others(49): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAMDC2_chr9_70038848_70231972 | 70221380 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 a0001c0001t0001g0232 |
2 | 340 | 0.0059 | 30 | c.191 others(49): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAML2_chr11_95971598_96348195 | 96121780 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01169.hp2 HG01257.hp1 |
a0001a0007a0008 | a0001c0002a0007c0014a0008c0015 | a0001c0002t0001a0007c0014t0010a0008c0015t0002 | a0001c0002t0001g0147 a0007c0014t0010g0030 a0008c0015t0002g0047 |
3 | 230 | 0.0130 | 30 | c.514 others(49): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
MAML2_chr11_95971598_96348195 | 96299060 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0186 | 1 | 230 | 0.0044 | 30 | c.513 others(49): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
MAML3_chr4_139711753_140159184 | 139781508 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG04199.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0039 | a0001c0001t0001g0052 a0001c0001t0039g0116 |
2 | 152 | 0.0132 | 30 | c.208 others(51): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
MAMLD1_chrX_150358317_150519173 | 150403960 | G | GAAAGAAA others(23): Show |
intron_variant | MODIFIER | NA18944.hp1 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 a0001c0001t0002g0160 |
2 | 226 | 0.0089 | 30 | c.-64 others(49): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MAMLD1_chrX_150358317_150519173 | 150403964 | G | GAAAGAAA others(23): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 226 | 0.0044 | 30 | c.-64 others(49): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MAMLD1_chrX_150358317_150519173 | 150403968 | G | GAAAGAAA others(23): Show |
intron_variant | MODIFIER | HG00735.hp2 NA20300.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0109 a0002c0002t0002g0022 |
2 | 226 | 0.0089 | 30 | c.-64 others(49): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MAN1A2_chr1_117362449_117533872 | 117386725 | T | TCCCTGTC others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00597.hp1 others(130): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0012a0001c0001t0016a0001c0001t0017others(100): Show | a0001c0001t0012g0047 a0001c0001t0012g0049 a0001c0001t0012g0050 others(130): Show |
133 | 370 | 0.3595 | 30 | c.303 others(49): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAN1A2_chr1_117362449_117533872 | 117417534 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG00741.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0050a0001c0001t0137 | a0001c0001t0050g0092 a0001c0001t0137g0103 |
2 | 370 | 0.0054 | 30 | c.774 others(47): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAN1A2_chr1_117362449_117533872 | 117431194 | A | AGGGAGGG others(23): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0118 | 1 | 370 | 0.0027 | 30 | c.855 others(49): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAN1A2_chr1_117362449_117533872 | 117526880 | C | CTCTCTCT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0168 | a0001c0001t0168g0243 | 1 | 370 | 0.0027 | 30 | c.*39 others(41): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 13/13 | 3925 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAN1A2_chr1_117362449_117533872 | 117526880 | C | CTCTCTCT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0004 | a0001c0004t0176 | a0001c0004t0176g0228 | 1 | 370 | 0.0027 | 30 | c.*39 others(41): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 13/13 | 3925 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |