regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAJIN_chr11_64933230_64977108 | 64948640 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG01943.hp1 HG01952.hp1 NA18951.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098a0001c0001t0001g0138a0001c0001t0001g0141others(1): Show | 4 | 384 | 0.0104 | 13 | c.350 others(28): Show |
MAJIN | ENSG00000168070.12 | transcript | ENST00000301896.6 | protein_coding | 6/10 | chr11 | TogoVar | ||||||
MAK_chr6_10757723_10843539 | 10806334 | T | TTTTTTTG others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(197): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(196): Show | 200 | 272 | 0.7353 | 13 | c.492 others(30): Show |
MAK | ENSG00000111837.12 | transcript | ENST00000354489.7 | protein_coding | 6/14 | chr6 | TogoVar | ||||||
MAK_chr6_10757723_10843539 | 10813136 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 272 | 0.0037 | 13 | c.358 others(28): Show |
MAK | ENSG00000111837.12 | transcript | ENST00000354489.7 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
MAK_chr6_10757723_10843539 | 10813137 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 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 | 19065287 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0040 | a0040c0093 | a0040c0093t0001 | a0040c0093t0001g0015 | 1 | 152 | 0.0066 | 13 | c.200 others(30): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MALRD1_chr10_19043801_19739478 | 19108387 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0083 | a0083c0054 | a0083c0054t0001 | a0083c0054t0001g0036 | 1 | 152 | 0.0066 | 13 | c.694 others(30): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 5/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MALRD1_chr10_19043801_19739478 | 19142171 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0085 | a0085c0048 | a0085c0048t0002 | a0085c0048t0002g0087 | 1 | 152 | 0.0066 | 13 | c.141 others(32): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 10/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MALRD1_chr10_19043801_19739478 | 19163137 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0060 | a0060c0065 | a0060c0065t0001 | a0060c0065t0001g0025 | 1 | 152 | 0.0066 | 13 | c.165 others(32): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 12/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MALRD1_chr10_19043801_19739478 | 19165266 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03540.hp2 |
a0019a0071 | a0019c0009a0071c0121 | a0019c0009t0002a0071c0121t0002 | a0019c0009t0002g0091a0071c0121t0002g0078 | 2 | 152 | 0.0132 | 13 | c.165 others(30): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 12/39 | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19176366 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01168.hp2 HG03209.hp2 |
a0012a0088 | a0012c0041a0088c0107 | a0012c0041t0004a0088c0107t0002 | a0012c0041t0004g0063a0088c0107t0002g0020 | 2 | 152 | 0.0132 | 13 | c.195 others(32): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 14/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MALRD1_chr10_19043801_19739478 | 19355858 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG01168.hp2 HG02132.hp2 HG02486.hp2 others(5): Show |
a0001a0012a0055others(5): Show | a0001c0120a0012c0041a0055c0074others(5): Show | a0001c0120t0001a0012c0041t0004a0055c0074t0001others(5): Show | a0001c0120t0001g0142a0012c0041t0004g0063a0055c0074t0001g0139others(5): Show | 8 | 152 | 0.0526 | 13 | c.444 others(32): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 26/39 | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19526365 | A | ATACATAT others(6): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02132.hp2 |
a0063a0086 | a0063c0057a0086c0103 | a0063c0057t0001a0086c0103t0001 | a0063c0057t0001g0150a0086c0103t0001g0007 | 2 | 152 | 0.0132 | 13 | c.532 others(32): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 31/39 | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19543433 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0056 | a0056c0070 | a0056c0070t0001 | a0056c0070t0001g0149 | 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 | 19547818 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0059 | a0059c0064 | a0059c0064t0001 | a0059c0064t0001g0152 | 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 | 19547819 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02976.hp2 HG03209.hp1 others(4): Show |
a0008a0014a0020others(3): Show | a0008c0006a0014c0068a0020c0007others(3): Show | a0008c0006t0001a0014c0068t0001a0020c0007t0001others(3): Show | a0008c0006t0001g0050a0008c0006t0001g0051a0014c0068t0001g0079others(4): Show | 7 | 152 | 0.0461 | 13 | c.547 others(34): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 32/39 | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19615516 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01081.hp1 others(6): Show |
a0001a0006a0035others(6): Show | a0001c0001a0006c0004a0035c0044others(6): Show | a0001c0001t0001a0006c0004t0001a0035c0044t0002others(6): Show | a0001c0001t0001g0005a0006c0004t0001g0026a0035c0044t0002g0084others(6): Show | 9 | 152 | 0.0592 | 13 | c.607 others(30): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 35/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MALRD1_chr10_19043801_19739478 | 19638101 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02132.hp2 NA19088.hp1 others(1): Show |
a0001a0023a0063others(1): Show | a0001c0003a0023c0112a0063c0057others(1): Show | a0001c0003t0001a0023c0112t0001a0063c0057t0001others(1): Show | a0001c0003t0001g0115a0023c0112t0001g0037a0063c0057t0001g0150others(1): Show | 4 | 152 | 0.0263 | 13 | 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 | 19705804 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02132.hp2 NA18957.hp2 NA18988.hp1 others(1): Show |
a0001a0028a0086 | a0001c0003a0028c0098a0086c0103 | a0001c0003t0001a0028c0098t0001a0086c0103t0001 | a0001c0003t0001g0114a0001c0003t0001g0115a0028c0098t0001g0040others(1): Show | 4 | 152 | 0.0263 | 13 | c.631 others(34): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 38/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MALRD1_chr10_19043801_19739478 | 19722590 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03453.hp1 NA18522.hp1 |
a0015a0018 | a0015c0016a0018c0017 | a0015c0016t0002a0018c0017t0001 | a0015c0016t0002g0083a0018c0017t0001g0107 | 2 | 152 | 0.0132 | 13 | c.631 others(32): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 38/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MALT1_chr18_58666465_58759477 | 58727616 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02818.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0012a0001c0001t0018a0001c0001t0028others(3): Show | a0001c0001t0012g0063a0001c0001t0018g0060a0001c0001t0018g0061others(4): Show | 7 | 406 | 0.0172 | 13 | c.122 others(32): Show |
MALT1 | ENSG00000172175.16 | transcript | ENST00000649217.2 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
MAMDC4_chr9_136847346_136865799 | 136848958 | G | GGAGGGGG others(6): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 NA18944.hp2 NA18945.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0001a0005c0005t0001g0009 | 6 | 350 | 0.0171 | 13 | c.-34 others(24): Show |
MAMDC4 | ENSG00000177943.14 | transcript | ENST00000317446.7 | protein_coding | 3387 | chr9 | TogoVar | ||||||
MAML1_chr5_179727822_179782283 | 179752342 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 360 | 0.0028 | 13 | c.316 others(32): Show |
MAML1 | ENSG00000161021.13 | transcript | ENST00000292599.4 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
MAML2_chr11_95971598_96348195 | 96034456 | A | AGAGAGAG others(6): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0068 | 1 | 230 | 0.0044 | 13 | c.214 others(34): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | ||||||
MAML2_chr11_95971598_96348195 | 96106980 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01257.hp1 HG01258.hp1 others(14): Show |
a0001a0002a0011others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0011others(8): Show | a0001c0001t0003g0137a0001c0001t0009g0078a0001c0001t0011g0183others(14): Show | 17 | 230 | 0.0739 | 13 | c.514 others(32): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | ||||||
MAML2_chr11_95971598_96348195 | 96121780 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG01884.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0010 | a0001c0002t0001a0001c0002t0011a0002c0003t0001others(1): Show | a0001c0002t0001g0158a0001c0002t0011g0182a0002c0003t0001g0221others(1): Show | 4 | 230 | 0.0174 | 13 | c.514 others(32): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | ||||||
MAML2_chr11_95971598_96348195 | 96159404 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00738.hp2 HG03209.hp2 NA20752.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0039a0001c0002t0002a0001c0002t0005 | a0001c0001t0039g0179a0001c0002t0002g0060a0001c0002t0005g0059 | 3 | 230 | 0.0130 | 13 | c.514 others(32): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | ||||||
MAML2_chr11_95971598_96348195 | 96299054 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0002t0001g0101 | 3 | 230 | 0.0130 | 13 | c.513 others(32): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | ||||||
MAML2_chr11_95971598_96348195 | 96299056 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02148.hp1 HG03017.hp2 others(2): Show |
a0001a0003a0010others(1): Show | a0001c0001a0003c0006a0010c0014others(1): Show | a0001c0001t0001a0001c0001t0016a0003c0006t0006others(2): Show | a0001c0001t0001g0176a0001c0001t0016g0074a0003c0006t0006g0112others(2): Show | 5 | 230 | 0.0217 | 13 | c.513 others(32): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | ||||||
MAML2_chr11_95971598_96348195 | 96299060 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0020 | a0020c0028 | a0020c0028t0014 | a0020c0028t0014g0009 | 1 | 230 | 0.0044 | 13 | c.513 others(32): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | ||||||
MAML2_chr11_95971598_96348195 | 96312219 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02258.hp2 HG04184.hp2 others(1): Show |
a0001a0017 | a0001c0001a0017c0019 | a0001c0001t0001a0001c0001t0004a0001c0001t0047others(1): Show | a0001c0001t0001g0213a0001c0001t0004g0184a0001c0001t0047g0228others(1): Show | 4 | 230 | 0.0174 | 13 | c.513 others(32): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | ||||||
MAML3_chr4_139711753_140159184 | 139832094 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01081.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0030a0001c0001t0045a0001c0002t0007others(3): Show | a0001c0001t0030g0022a0001c0001t0045g0147a0001c0002t0007g0076others(4): Show | 7 | 152 | 0.0461 | 13 | c.207 others(34): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
MAML3_chr4_139711753_140159184 | 139863832 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02148.hp2 NA18991.hp2 |
a0003a0004 | a0003c0005a0004c0020 | a0003c0005t0001a0004c0020t0035 | a0003c0005t0001g0066a0004c0020t0035g0047 | 2 | 152 | 0.0132 | 13 | c.207 others(34): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
MAML3_chr4_139711753_140159184 | 139905491 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00741.hp1 HG00741.hp2 others(12): Show |
a0001a0004 | a0001c0004a0004c0020a0004c0022 | a0001c0004t0001a0001c0004t0002a0001c0004t0003others(4): Show | a0001c0004t0001g0016a0001c0004t0001g0017a0001c0004t0001g0035others(12): Show | 15 | 152 | 0.0987 | 13 | c.469 others(32): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
MAML3_chr4_139711753_140159184 | 139978611 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01496.hp1 HG01884.hp1 others(3): Show |
a0001a0003a0005 | a0001c0002a0001c0010a0001c0011others(3): Show | a0001c0002t0002a0001c0010t0001a0001c0011t0002others(3): Show | a0001c0002t0002g0093a0001c0010t0001g0055a0001c0011t0002g0013others(3): Show | 6 | 152 | 0.0395 | 13 | c.469 others(32): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
MAML3_chr4_139711753_140159184 | 140060365 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02257.hp2 HG02280.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0020a0001c0002t0001a0001c0002t0016others(3): Show | a0001c0001t0020g0120a0001c0002t0001g0082a0001c0002t0016g0006others(3): Show | 6 | 152 | 0.0395 | 13 | c.468 others(32): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
MAN1A1_chr6_119172205_119354761 | 119285138 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01192.hp1 HG02071.hp2 others(20): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0011a0001c0001t0018others(3): Show | a0001c0001t0005g0001a0001c0001t0005g0079a0001c0001t0005g0081others(19): Show | 23 | 350 | 0.0657 | 13 | c.897 others(30): Show |
MAN1A1 | ENSG00000111885.7 | transcript | ENST00000368468.4 | protein_coding | 5/12 | chr6 | TogoVar | ||||||
MAN1A2_chr1_117362449_117533872 | 117431194 | A | AGGGAGGG others(6): Show |
intron_variant | MODIFIER | HG02056.hp1 NA18980.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0083 | a0001c0001t0002g0189a0001c0001t0007g0151a0001c0001t0083g0162 | 3 | 370 | 0.0081 | 13 | c.855 others(32): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAN1A2_chr1_117362449_117533872 | 117431194 | A | AGGGAGGG others(6): Show |
intron_variant | MODIFIER | HG01192.hp2 HG04184.hp1 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0041 | a0001c0001t0001g0128a0001c0001t0002g0150a0001c0001t0041g0148 | 3 | 370 | 0.0081 | 13 | c.855 others(32): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAN1A2_chr1_117362449_117533872 | 117431198 | A | AGGGGGAG others(6): Show |
intron_variant | MODIFIER | HG02559.hp2 NA18940.hp1 NA18960.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0037others(1): Show | a0001c0001t0001g0202a0001c0001t0007g0200a0001c0001t0037g0161others(1): Show | 4 | 370 | 0.0108 | 13 | c.855 others(32): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAN1A2_chr1_117362449_117533872 | 117431228 | A | AGGGGGAG others(6): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0197 | 1 | 370 | 0.0027 | 13 | c.855 others(32): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAN1A2_chr1_117362449_117533872 | 117458521 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG02559.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0070 | a0001c0001t0012g0047a0001c0001t0012g0049a0001c0001t0012g0050others(1): Show | 4 | 370 | 0.0108 | 13 | c.951 others(30): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAN1A2_chr1_117362449_117533872 | 117458523 | A | ATAGATAT others(6): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0124 | a0001c0001t0124g0102 | 1 | 370 | 0.0027 | 13 | c.951 others(30): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAN1A2_chr1_117362449_117533872 | 117458523 | A | ATATTTTT others(6): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0068 | a0001c0001t0020g0042a0001c0001t0068g0052 | 2 | 370 | 0.0054 | 13 | c.951 others(30): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAN1A2_chr1_117362449_117533872 | 117458523 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG02004.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0032a0001c0001t0067others(2): Show | a0001c0001t0031g0046a0001c0001t0032g0035a0001c0001t0067g0043others(2): Show | 5 | 370 | 0.0135 | 13 | c.951 others(30): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAN1C1_chr1_25611791_25789450 | 25643589 | A | ATTATTAT others(6): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0161 | 1 | 250 | 0.0040 | 13 | c.540 others(32): Show |
MAN1C1 | ENSG00000117643.16 | transcript | ENST00000374332.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAN1C1_chr1_25611791_25789450 | 25644518 | A | ATATTTTT others(6): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0234a0001c0002t0001g0235 | 2 | 250 | 0.0080 | 13 | c.540 others(32): Show |
MAN1C1 | ENSG00000117643.16 | transcript | ENST00000374332.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAN1C1_chr1_25611791_25789450 | 25656095 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18612.hp2 NA18998.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0053a0001c0001t0001g0077others(1): Show | 4 | 250 | 0.0160 | 13 | c.541 others(32): Show |
MAN1C1 | ENSG00000117643.16 | transcript | ENST00000374332.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAN1C1_chr1_25611791_25789450 | 25665855 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0191 | 1 | 250 | 0.0040 | 13 | c.541 others(32): Show |
MAN1C1 | ENSG00000117643.16 | transcript | ENST00000374332.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAN2A1_chr5_109684927_109874625 | 109842806 | G | GTTTTGTT others(6): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0212 | 1 | 296 | 0.0034 | 13 | c.270 others(30): Show |
MAN2A1 | ENSG00000112893.10 | transcript | ENST00000261483.5 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MAN2A1_chr5_109684927_109874625 | 109842806 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00642.hp1 others(41): Show |
a0001a0002a0004others(1): Show | a0001c0004a0001c0009a0002c0002others(2): Show | a0001c0004t0015a0001c0009t0001a0001c0009t0002others(7): Show | a0001c0004t0015g0040a0001c0009t0001g0208a0001c0009t0002g0227others(41): Show | 44 | 296 | 0.1487 | 13 | c.270 others(30): Show |
MAN2A1 | ENSG00000112893.10 | transcript | ENST00000261483.5 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |