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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MALRD1_chr10_19043801_19739478 | 19237889 | A | ATAATTAT others(24): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02109.hp1 HG03209.hp2 others(2): Show |
a0011a0020a0031others(1): Show | a0011c0007a0020c0041a0031c0087others(1): Show | a0011c0007t0001a0020c0041t0004a0031c0087t0002others(1): Show | a0011c0007t0001g0050 a0011c0007t0001g0051 a0020c0041t0004g0063 others(2): Show |
5 | 119 | 0.0420 | 31 | c.299 others(52): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 18/39 | chr10 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19315393 | A | ATATATAA others(24): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0022 | a0022c0064 | a0022c0064t0001 | a0022c0064t0001g0003 | 1 | 133 | 0.0075 | 31 | c.342 others(50): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 21/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19355858 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | HG01123.hp2 HG03471.hp2 HG03710.hp2 others(4): Show |
a0002a0006a0008others(2): Show | a0002c0004a0006c0027a0008c0006others(3): Show | a0002c0004t0001a0006c0027t0001a0008c0006t0001others(4): Show | a0002c0004t0001g0129 a0006c0027t0001g0060 a0008c0006t0001g0034 others(4): Show |
7 | 75 | 0.0933 | 31 | c.444 others(50): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 26/39 | chr10 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19439133 | T | TAATTTTA others(24): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02717.hp2 others(2): Show |
a0036a0051a0057others(2): Show | a0036c0049a0051c0055a0057c0035others(2): Show | a0036c0049t0001a0051c0055t0001a0057c0035t0001others(2): Show | a0036c0049t0001g0022 a0051c0055t0001g0108 a0057c0035t0001g0126 others(2): Show |
5 | 150 | 0.0333 | 31 | c.484 others(52): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 28/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19530334 | T | TAATATTT others(24): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02897.hp1 HG03209.hp2 others(2): Show |
a0018a0020a0026others(1): Show | a0018c0026a0018c0069a0020c0041others(2): Show | a0018c0026t0001a0018c0069t0002a0020c0041t0004others(2): Show | a0018c0026t0001g0055 a0018c0069t0002g0082 a0020c0041t0004g0063 others(2): Show |
5 | 150 | 0.0333 | 31 | c.532 others(48): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 31/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAML2_chr11_95971598_96348195 | 96121780 | A | ATTTTTTT others(24): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0008 | a0008c0015 | a0008c0015t0002 | a0008c0015t0002g0046 | 1 | 36 | 0.0278 | 31 | c.514 others(50): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
MAMLD1_chrX_150358317_150519173 | 150363443 | T | TGGCGGCC others(24): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0008 | a0001c0001t0006g0214 a0001c0001t0006g0215 a0001c0001t0006g0216 others(3): Show |
6 | 224 | 0.0268 | 31 | c.-14 others(40): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 1/8 | 82032 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
MAMLD1_chrX_150358317_150519173 | 150481964 | A | AAAAGAAA others(24): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0051 | 1 | 78 | 0.0128 | 31 | c.204 others(50): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MAN2B2_chr4_6570189_6628362 | 6586053 | G | GTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0037 | a0037c0040 | a0037c0040t0014 | a0037c0040t0014g0045 | 1 | 319 | 0.0031 | 31 | c.392 others(46): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAOB_chrX_43761610_43887450 | 43787659 | T | TATTTTTT others(24): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01891.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0017 a0001c0003t0004g0182 a0001c0003t0004g0183 others(2): Show |
5 | 232 | 0.0216 | 31 | c.928 others(48): Show |
MAOB | ENSG00000069535.14 | transcript | ENST00000378069.5 | protein_coding | 8/14 | chrX | TogoVar | |||||||
MAP2K2_chr19_4085321_4129122 | 4086007 | G | GAGTCTCG others(24): Show |
downstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 | 1 | 328 | 0.0030 | 31 | c.*45 others(42): Show |
MAP2K2 | ENSG00000126934.15 | transcript | ENST00000262948.10 | protein_coding | 4313 | chr19 | TogoVar | |||||||
MAP2K2_chr19_4085321_4129122 | 4122338 | A | ACCCTCCC others(24): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0072 | 1 | 303 | 0.0033 | 31 | c.92+ others(46): Show |
MAP2K2 | ENSG00000126934.15 | transcript | ENST00000262948.10 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
MAP2K5_chr15_67537703_67812114 | 67575917 | T | TTTCTTTC others(24): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0134 | 1 | 136 | 0.0074 | 31 | c.253 others(48): Show |
MAP2K5 | ENSG00000137764.20 | transcript | ENST00000178640.10 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MAP3K13_chr3_185358136_185494094 | 185454685 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18971.hp1 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0071 a0001c0001t0004g0073 a0001c0001t0004g0075 |
3 | 271 | 0.0111 | 31 | c.127 others(50): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MAP3K13_chr3_185358136_185494094 | 185483711 | C | CTTTTTTT others(24): Show |
3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG01256.hp2 HG01361.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0005a0001c0001t0014a0001c0001t0050others(2): Show | a0001c0001t0005g0014 a0001c0001t0005g0025 a0001c0001t0005g0054 others(10): Show |
13 | 23 | 0.5652 | 31 | c.*12 others(42): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 14/14 | 1271 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MAP3K13_chr3_185358136_185494094 | 185483711 | C | CTTTTTTT others(24): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(55): Show |
a0001a0004a0008 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0018others(9): Show | a0001c0001t0003g0001 a0001c0001t0003g0033 a0001c0001t0003g0035 others(55): Show |
58 | 68 | 0.8529 | 31 | c.*12 others(42): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 14/14 | 1272 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MAP3K19_chr2_134959491_135052447 | 134997817 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0268 | 1 | 250 | 0.0040 | 31 | c.574 others(46): Show |
MAP3K19 | ENSG00000176601.14 | transcript | ENST00000392915.7 | protein_coding | 8/12 | chr2 | TogoVar | |||||||
MAP3K20_chr2_173070846_173273015 | 173134428 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0007 | a0001c0007t0013 | a0001c0007t0013g0182 | 1 | 6 | 0.1667 | 31 | c.160 others(50): Show |
MAP3K20 | ENSG00000091436.17 | transcript | ENST00000375213.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MAP3K20_chr2_173070846_173273015 | 173134428 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0146 | 1 | 6 | 0.1667 | 31 | c.160 others(50): Show |
MAP3K20 | ENSG00000091436.17 | transcript | ENST00000375213.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MAP3K20_chr2_173070846_173273015 | 173134428 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0003 | a0003c0009 | a0003c0009t0005 | a0003c0009t0005g0067 | 1 | 6 | 0.1667 | 31 | c.160 others(50): Show |
MAP3K20 | ENSG00000091436.17 | transcript | ENST00000375213.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MAP3K20_chr2_173070846_173273015 | 173134428 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 6 | 0.1667 | 31 | c.160 others(50): Show |
MAP3K20 | ENSG00000091436.17 | transcript | ENST00000375213.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MAP3K20_chr2_173070846_173273015 | 173134428 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0057 | 1 | 6 | 0.1667 | 31 | c.160 others(50): Show |
MAP3K20 | ENSG00000091436.17 | transcript | ENST00000375213.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MAP3K4_chr6_160986769_161122380 | 161119371 | T | TCCACATT others(24): Show |
downstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 339 | 0.0029 | 31 | c.*25 others(42): Show |
MAP3K4 | ENSG00000085511.20 | transcript | ENST00000392142.9 | protein_coding | 1992 | chr6 | TogoVar | |||||||
MAP3K8_chr10_30429184_30466833 | 30432976 | G | GAGAGAGA others(24): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG01192.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0111 a0001c0002t0001g0031 others(4): Show |
7 | 246 | 0.0285 | 31 | c.-16 others(42): Show |
MAP3K8 | ENSG00000107968.10 | transcript | ENST00000263056.6 | protein_coding | 1207 | chr10 | TogoVar | |||||||
MAP4K1_chr19_38582641_38622953 | 38590394 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0273 | 1 | 180 | 0.0056 | 31 | c.239 others(50): Show |
MAP4K1 | ENSG00000104814.13 | transcript | ENST00000396857.7 | protein_coding | 30/30 | chr19 | TogoVar | |||||||
MAP4K3_chr2_39244266_39442285 | 39415980 | A | AAAAAAAT others(24): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0146 | 1 | 53 | 0.0189 | 31 | c.96+ others(48): Show |
MAP4K3 | ENSG00000011566.15 | transcript | ENST00000263881.8 | protein_coding | 1/33 | chr2 | TogoVar | |||||||
MAP4K3_chr2_39244266_39442285 | 39415980 | A | AAATATAT others(24): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0208 | 1 | 53 | 0.0189 | 31 | c.96+ others(48): Show |
MAP4K3 | ENSG00000011566.15 | transcript | ENST00000263881.8 | protein_coding | 1/33 | chr2 | TogoVar | |||||||
MAP4K4_chr2_101692707_101899690 | 101797889 | G | GTTTTTTT others(24): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0131 | 1 | 10 | 0.1000 | 31 | c.180 others(48): Show |
MAP4K4 | ENSG00000071054.17 | transcript | ENST00000324219.9 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MAPK1_chr22_21754657_21872645 | 21789880 | T | TAACATAA others(24): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01123.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0024 | a0001c0001t0002g0099 a0001c0001t0002g0112 a0001c0001t0024g0121 |
3 | 173 | 0.0173 | 31 | c.610 others(48): Show |
MAPK1 | ENSG00000100030.15 | transcript | ENST00000215832.11 | protein_coding | 4/8 | chr22 | TogoVar | |||||||
MAPK1_chr22_21754657_21872645 | 21813039 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0074 | 1 | 148 | 0.0068 | 31 | c.120 others(48): Show |
MAPK1 | ENSG00000100030.15 | transcript | ENST00000215832.11 | protein_coding | 1/8 | chr22 | TogoVar | |||||||
MAPKAP1_chr9_125432394_125712208 | 125459854 | G | GGAAAGAG others(24): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG02486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0002g0079 others(3): Show |
6 | 58 | 0.1034 | 31 | c.134 others(50): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 10/11 | chr9 | TogoVar | |||||||
MAPKBP1_chr15_41769484_41832855 | 41786777 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0071 | 1 | 113 | 0.0088 | 31 | c.114 others(50): Show |
MAPKBP1 | ENSG00000137802.14 | transcript | ENST00000457542.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MAPKBP1_chr15_41769484_41832855 | 41786777 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0252 | 1 | 113 | 0.0088 | 31 | c.114 others(50): Show |
MAPKBP1 | ENSG00000137802.14 | transcript | ENST00000457542.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MAPKBP1_chr15_41769484_41832855 | 41786777 | A | AAAAATAT others(24): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0133 | 1 | 113 | 0.0088 | 31 | c.114 others(50): Show |
MAPKBP1 | ENSG00000137802.14 | transcript | ENST00000457542.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MAPKBP1_chr15_41769484_41832855 | 41786777 | A | AAATATAT others(24): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0132 | 1 | 113 | 0.0088 | 31 | c.114 others(50): Show |
MAPKBP1 | ENSG00000137802.14 | transcript | ENST00000457542.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MAPKBP1_chr15_41769484_41832855 | 41786777 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0006 | a0006c0009 | a0006c0009t0023 | a0006c0009t0023g0076 | 1 | 113 | 0.0088 | 31 | c.114 others(50): Show |
MAPKBP1 | ENSG00000137802.14 | transcript | ENST00000457542.7 | protein_coding | 2/30 | chr15 | TogoVar | |||||||
MAPT_chr17_45889554_46033334 | 45903921 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp2 others(41): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0042 a0001c0001t0001g0133 a0001c0001t0001g0134 others(41): Show |
44 | 251 | 0.1753 | 31 | c.-18 others(48): Show |
MAPT | ENSG00000186868.18 | transcript | ENST00000262410.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MAPT_chr17_45889554_46033334 | 45904027 | T | TTTATATA others(24): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 252 | 0.0040 | 31 | c.-18 others(48): Show |
MAPT | ENSG00000186868.18 | transcript | ENST00000262410.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MAPT_chr17_45889554_46033334 | 45946615 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0018 | 1 | 204 | 0.0049 | 31 | c.-17 others(50): Show |
MAPT | ENSG00000186868.18 | transcript | ENST00000262410.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MARCHF10_chr17_62696314_62813314 | 62723559 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02896.hp1 HG03017.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 a0001c0001t0001g0172 a0001c0001t0001g0174 others(4): Show |
7 | 100 | 0.0700 | 31 | c.210 others(48): Show |
MARCHF10 | ENSG00000173838.12 | transcript | ENST00000311269.10 | protein_coding | 7/10 | chr17 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163894556 | C | CATGCATA others(24): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02165.hp2 HG02293.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0018a0001c0001t0020others(3): Show | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0024 others(8): Show |
11 | 76 | 0.1447 | 31 | c.-38 others(50): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
MARCHF3_chr5_126862714_127035558 | 126866880 | C | CAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 HG01517.hp2 HG03710.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0002g0172 a0001c0001t0005g0173 a0001c0001t0007g0103 others(2): Show |
5 | 48 | 0.1042 | 31 | c.*37 others(42): Show |
MARCHF3 | ENSG00000173926.6 | transcript | ENST00000308660.6 | protein_coding | 833 | chr5 | TogoVar | |||||||
MARCHF3_chr5_126862714_127035558 | 126866885 | A | AAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0056 | 1 | 290 | 0.0034 | 31 | c.*37 others(42): Show |
MARCHF3 | ENSG00000173926.6 | transcript | ENST00000308660.6 | protein_coding | 828 | chr5 | TogoVar | |||||||
MARCHF3_chr5_126862714_127035558 | 127022784 | T | TTAAACAT others(24): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0074 | 1 | 294 | 0.0034 | 31 | c.-57 others(48): Show |
MARCHF3 | ENSG00000173926.6 | transcript | ENST00000308660.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
MARK3_chr14_103380415_103508831 | 103382182 | A | AGAAGGAA others(24): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02723.hp1 others(7): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0014a0002c0002t0001 | a0001c0003t0014g0104 a0002c0002t0001g0195 a0002c0002t0001g0196 others(7): Show |
10 | 36 | 0.2778 | 31 | c.-38 others(42): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 3232 | chr14 | TogoVar | |||||||
MARK3_chr14_103380415_103508831 | 103467674 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | NA18612.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0050 a0001c0001t0003g0035 |
2 | 32 | 0.0625 | 31 | c.111 others(48): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MAST2_chr1_45798612_46041122 | 45888663 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 a0001c0001t0001g0187 |
2 | 3 | 0.6667 | 31 | c.500 others(48): Show |
MAST2 | ENSG00000086015.23 | transcript | ENST00000361297.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MATN2_chr8_97864064_98041724 | 97988165 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0017 | a0001c0017t0005 | a0001c0017t0005g0240 | 1 | 314 | 0.0032 | 31 | c.108 others(50): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 6/18 | chr8 | TogoVar | |||||||
MATN2_chr8_97864064_98041724 | 97988171 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00738.hp2 HG02572.hp1 others(1): Show |
a0001a0002 | a0001c0014a0002c0031 | a0001c0014t0002a0002c0031t0002 | a0001c0014t0002g0008 a0001c0014t0002g0015 a0001c0014t0002g0045 others(1): Show |
4 | 129 | 0.0310 | 31 | c.108 others(50): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MATN2_chr8_97864064_98041724 | 97988171 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03139.hp1 HG03540.hp2 |
a0001a0002 | a0001c0020a0002c0031 | a0001c0020t0002a0002c0031t0002 | a0001c0020t0002g0142 a0001c0020t0002g0144 a0002c0031t0002g0143 |
3 | 128 | 0.0234 | 31 | c.108 others(50): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |