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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALG14_chr1_94969405_95077951 | 95059397 | C | CAA | intron_variant | MODIFIER | HG00597.hp1 HG01074.hp1 HG01167.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0018a0001c0001t0036others(4): Show | a0001c0001t0008g0101a0001c0001t0018g0118a0001c0001t0018g0119others(7): Show | 10 | 388 | 0.0258 | 2 | c.288 others(19): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 95060552 | T | TAA | intron_variant | MODIFIER | HG00735.hp1 HG02145.hp1 HG02572.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0025a0001c0001t0029others(9): Show | a0001c0001t0023g0029a0001c0001t0023g0030a0001c0001t0025g0026others(13): Show | 16 | 388 | 0.0412 | 2 | c.288 others(19): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 95061480 | T | TGA | intron_variant | MODIFIER | HG00597.hp1 HG01074.hp1 HG01167.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016a0001c0001t0018others(2): Show | a0001c0001t0005g0268a0001c0001t0016g0267a0001c0001t0018g0118others(5): Show | 8 | 388 | 0.0206 | 2 | c.288 others(19): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 95067576 | T | TAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(113): Show | a0001c0001t0001g0276a0001c0001t0001g0278a0001c0001t0001g0282others(216): Show | 220 | 388 | 0.5670 | 2 | c.137 others(19): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 95069588 | T | TAG | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01243.hp2 others(63): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013a0001c0001t0014others(33): Show | a0001c0001t0006g0001a0001c0001t0006g0035a0001c0001t0006g0038others(62): Show | 66 | 388 | 0.1701 | 2 | c.136 others(19): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 95074346 | C | CTT | upstream_gene_variant | MODIFIER | HG03041.hp2 HG03490.hp2 HG03540.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0054a0001c0001t0055others(3): Show | a0001c0001t0025g0384a0001c0001t0054g0021a0001c0001t0055g0156others(3): Show | 6 | 388 | 0.0155 | 2 | c.-14 others(13): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 1396 | chr1 | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 95074506 | C | CTT | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01978.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0171a0001c0001t0175a0001c0001t0194 | a0001c0001t0171g0369a0001c0001t0175g0371a0001c0001t0194g0373 | 3 | 388 | 0.0077 | 2 | c.-16 others(13): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 1556 | chr1 | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 95076748 | C | CAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG01074.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0023a0001c0001t0025others(13): Show | a0001c0001t0018g0118a0001c0001t0018g0119a0001c0001t0018g0120others(20): Show | 23 | 388 | 0.0593 | 2 | c.-38 others(13): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 3798 | chr1 | TogoVar | ||||||
ALG1L2_chr3_130076831_130103390 | 130079049 | C | CAA | upstream_gene_variant | MODIFIER | HG01346.hp1 HG02074.hp2 HG02257.hp2 others(13): Show |
a0001a0008 | a0001c0001a0008c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0017a0001c0001t0001g0056others(9): Show | 16 | 261 | 0.0613 | 2 | c.-29 others(13): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 2781 | chr3 | TogoVar | ||||||
ALG1L2_chr3_130076831_130103390 | 130079671 | C | CTT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(43): Show |
a0001a0002a0003 | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(7): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(30): Show | 46 | 261 | 0.1763 | 2 | c.-23 others(13): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 2159 | chr3 | TogoVar | ||||||
ALG1L2_chr3_130076831_130103390 | 130084948 | T | TTA | intron_variant | MODIFIER | HG02559.hp2 HG02895.hp2 HG03225.hp1 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0039a0003c0005t0001g0040a0003c0005t0001g0041others(1): Show | 4 | 261 | 0.0153 | 2 | c.20+ others(17): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALG1L2_chr3_130076831_130103390 | 130087782 | A | AGT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(32): Show | 48 | 261 | 0.1839 | 2 | c.21- others(17): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALG1L2_chr3_130076831_130103390 | 130092394 | T | TTC | intron_variant | MODIFIER | HG01255.hp1 HG02559.hp2 HG02886.hp1 others(6): Show |
a0003a0005 | a0003c0005a0003c0011a0005c0009 | a0003c0005t0001a0003c0011t0001a0005c0009t0001others(1): Show | a0003c0005t0001g0039a0003c0005t0001g0040a0003c0005t0001g0041others(6): Show | 9 | 261 | 0.0345 | 2 | c.253 others(17): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALG1L2_chr3_130076831_130103390 | 130099980 | A | AAC | downstream_gene_variant | MODIFIER | HG01069.hp2 HG03239.hp1 NA18906.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0023a0002c0002t0001g0005a0002c0002t0001g0084 | 3 | 261 | 0.0115 | 2 | c.*17 others(13): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1591 | chr3 | TogoVar | ||||||
ALG1_chr16_5066843_5092379 | 5067337 | G | GGA | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(134): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(58): Show | 137 | 444 | 0.3086 | 2 | c.-45 others(13): Show |
ALG1 | ENSG00000033011.14 | transcript | ENST00000262374.10 | protein_coding | 4505 | chr16 | TogoVar | ||||||
ALG1_chr16_5066843_5092379 | 5084897 | C | CTA | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(125): Show |
a0001a0003 | a0001c0002a0001c0006a0001c0009others(3): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0017others(12): Show | a0001c0002t0002g0002a0001c0002t0002g0015a0001c0002t0002g0060others(46): Show | 128 | 444 | 0.2883 | 2 | c.*17 others(9): Show |
ALG1 | ENSG00000033011.14 | transcript | ENST00000262374.10 | protein_coding | 13/13 | 19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
ALG2_chr9_99211425_99226942 | 99222176 | C | CTG | upstream_gene_variant | MODIFIER | NA18971.hp2 NA19012.hp1 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 376 | 0.0080 | 2 | c.-28 others(11): Show |
ALG2 | ENSG00000119523.10 | transcript | ENST00000476832.2 | protein_coding | 235 | chr9 | TogoVar | ||||||
ALG2_chr9_99211425_99226942 | 99223334 | A | AAC | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02145.hp2 HG02717.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0002g0007a0003c0004t0001g0012others(2): Show | 6 | 376 | 0.0160 | 2 | c.-14 others(13): Show |
ALG2 | ENSG00000119523.10 | transcript | ENST00000476832.2 | protein_coding | 1393 | chr9 | TogoVar | ||||||
ALG3_chr3_184237301_184253962 | 184247302 | A | ATT | intron_variant | MODIFIER | HG00639.hp2 HG01175.hp2 HG01433.hp2 others(14): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0030a0001c0001t0002g0020a0001c0001t0002g0022others(3): Show | 17 | 340 | 0.0500 | 2 | c.196 others(19): Show |
ALG3 | ENSG00000214160.10 | transcript | ENST00000397676.8 | protein_coding | 1/8 | chr3 | TogoVar | ||||||
ALG3_chr3_184237301_184253962 | 184251102 | A | AAG | upstream_gene_variant | MODIFIER | HG00558.hp2 HG01070.hp2 HG01168.hp2 others(6): Show |
a0001a0005a0007 | a0001c0001a0005c0005a0007c0009 | a0001c0001t0001a0001c0001t0002a0005c0005t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0038a0001c0001t0002g0002others(3): Show | 9 | 340 | 0.0265 | 2 | c.-21 others(13): Show |
ALG3 | ENSG00000214160.10 | transcript | ENST00000397676.8 | protein_coding | 2141 | chr3 | TogoVar | ||||||
ALG5_chr13_36944738_37004340 | 36969342 | G | GTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(227): Show | 257 | 276 | 0.9312 | 2 | c.621 others(19): Show |
ALG5 | ENSG00000120697.10 | transcript | ENST00000239891.4 | protein_coding | 7/9 | chr13 | TogoVar | ||||||
ALG5_chr13_36944738_37004340 | 36971649 | C | CAA | intron_variant | MODIFIER | HG01109.hp2 HG01981.hp2 HG02055.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007a0001c0001t0001g0029a0001c0001t0001g0030others(18): Show | 22 | 276 | 0.0797 | 2 | c.621 others(17): Show |
ALG5 | ENSG00000120697.10 | transcript | ENST00000239891.4 | protein_coding | 7/9 | chr13 | TogoVar | ||||||
ALG5_chr13_36944738_37004340 | 36972991 | C | CAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(131): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(113): Show | 134 | 276 | 0.4855 | 2 | c.562 others(17): Show |
ALG5 | ENSG00000120697.10 | transcript | ENST00000239891.4 | protein_coding | 6/9 | chr13 | TogoVar | ||||||
ALG5_chr13_36944738_37004340 | 36978189 | G | GTT | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG01261.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0135a0001c0001t0001g0136others(8): Show | 11 | 276 | 0.0399 | 2 | c.562 others(19): Show |
ALG5 | ENSG00000120697.10 | transcript | ENST00000239891.4 | protein_coding | 6/9 | chr13 | TogoVar | ||||||
ALG5_chr13_36944738_37004340 | 36990604 | C | CAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(256): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(228): Show | 259 | 276 | 0.9384 | 2 | c.355 others(19): Show |
ALG5 | ENSG00000120697.10 | transcript | ENST00000239891.4 | protein_coding | 4/9 | chr13 | TogoVar | ||||||
ALG5_chr13_36944738_37004340 | 36999820 | T | TAA | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01981.hp2 others(27): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0007a0001c0001t0001g0028a0001c0001t0001g0029others(26): Show | 30 | 276 | 0.1087 | 2 | c.-52 others(11): Show |
ALG5 | ENSG00000120697.10 | transcript | ENST00000239891.4 | protein_coding | 481 | chr13 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63363723 | C | CTT | upstream_gene_variant | MODIFIER | HG02572.hp2 HG02886.hp2 HG03130.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0001 | a0001c0001t0008g0234a0001c0001t0008g0235a0001c0001t0008g0236others(3): Show | 6 | 388 | 0.0155 | 2 | c.-41 others(13): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3903 | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63373658 | A | ATT | intron_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02895.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0002g0331a0001c0001t0004g0326a0001c0001t0004g0327others(7): Show | 10 | 388 | 0.0258 | 2 | c.82+ others(17): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63375410 | A | ATT | intron_variant | MODIFIER | HG01106.hp1 HG01175.hp2 HG01934.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0377a0001c0001t0001g0378a0001c0001t0002g0241others(7): Show | 11 | 388 | 0.0284 | 2 | c.82+ others(17): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63400223 | G | GTA | intron_variant | MODIFIER | HG01243.hp2 HG02132.hp2 NA18941.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0075a0002c0002t0001g0166a0002c0002t0001g0173others(3): Show | 6 | 388 | 0.0155 | 2 | c.168 others(19): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63400255 | G | GTA | intron_variant | MODIFIER | HG01192.hp2 HG02683.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0362 | 3 | 388 | 0.0077 | 2 | c.168 others(19): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63400269 | G | GTA | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01258.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0157a0002c0002t0001g0158a0002c0002t0001g0159others(4): Show | 7 | 388 | 0.0180 | 2 | c.168 others(19): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63400285 | A | ACG | intron_variant | MODIFIER | NA18985.hp2 NA18988.hp1 NA18995.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0354a0002c0002t0001g0355a0002c0002t0001g0356 | 3 | 388 | 0.0077 | 2 | c.168 others(19): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63400321 | G | GTA | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG00741.hp1 others(38): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005a0002c0002t0016 | a0002c0002t0001g0009a0002c0002t0001g0053a0002c0002t0001g0054others(38): Show | 41 | 388 | 0.1057 | 2 | c.168 others(19): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63400361 | G | GTA | intron_variant | MODIFIER | HG01167.hp2 HG02145.hp2 HG02572.hp2 others(19): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0331a0001c0001t0003g0196a0001c0001t0003g0204others(19): Show | 22 | 388 | 0.0567 | 2 | c.168 others(19): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63400370 | T | TAC | intron_variant | MODIFIER | HG02622.hp1 HG03209.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0189a0001c0001t0011g0190a0001c0001t0011g0191 | 3 | 388 | 0.0077 | 2 | c.168 others(19): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63402460 | A | ATT | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02056.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(1): Show | a0001c0001t0001g0085a0001c0001t0001g0088a0001c0001t0001g0360others(10): Show | 13 | 388 | 0.0335 | 2 | c.257 others(17): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63402515 | G | GGA | intron_variant | MODIFIER | NA18947.hp1 NA18981.hp2 NA19059.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0099a0001c0001t0003g0125a0001c0001t0003g0131others(1): Show | 4 | 388 | 0.0103 | 2 | c.257 others(17): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63422344 | A | AAT | intron_variant | MODIFIER | HG01192.hp1 HG01891.hp2 HG02280.hp2 others(11): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0009a0001c0003t0012a0001c0003t0014others(2): Show | a0001c0003t0009g0192a0001c0003t0009g0193a0001c0003t0009g0194others(11): Show | 14 | 388 | 0.0361 | 2 | c.105 others(21): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63422391 | A | ATG | intron_variant | MODIFIER | HG01192.hp1 HG01891.hp2 HG02280.hp2 others(11): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0009a0001c0003t0012a0001c0003t0014others(2): Show | a0001c0003t0009g0192a0001c0003t0009g0193a0001c0003t0009g0194others(11): Show | 14 | 388 | 0.0361 | 2 | c.105 others(21): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63423024 | A | ATT | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG01981.hp2 others(6): Show |
a0001a0006 | a0001c0001a0001c0007a0006c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0064a0001c0001t0001g0297a0001c0001t0002g0178others(6): Show | 9 | 388 | 0.0232 | 2 | c.105 others(21): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63424774 | A | ATT | intron_variant | MODIFIER | HG02572.hp2 HG02886.hp2 HG03130.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0008a0002c0002t0001 | a0001c0001t0003g0115a0001c0001t0008g0234a0001c0001t0008g0235others(4): Show | 7 | 388 | 0.0180 | 2 | c.105 others(21): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63427787 | C | CTT | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02809.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0004a0001c0004t0006 | a0001c0001t0002g0241a0001c0004t0004g0200a0001c0004t0006g0156others(4): Show | 7 | 388 | 0.0180 | 2 | c.105 others(19): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63429850 | A | AGT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(81): Show |
a0001a0002a0006 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0050a0001c0001t0001g0055others(80): Show | 84 | 388 | 0.2165 | 2 | c.132 others(19): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63432258 | G | GTT | intron_variant | MODIFIER | HG01884.hp1 HG02015.hp2 NA19043.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0246a0001c0001t0003g0122a0001c0001t0003g0133others(3): Show | 6 | 388 | 0.0155 | 2 | c.132 others(21): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG8_chr11_78095946_78144626 | 78098579 | C | CTT | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00609.hp1 others(36): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0008 | a0001c0001t0001a0002c0002t0001a0007c0008t0001 | a0001c0001t0001g0045a0001c0001t0001g0047a0001c0001t0001g0072others(33): Show | 39 | 402 | 0.0970 | 2 | c.*23 others(13): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 2366 | chr11 | TogoVar | ||||||
ALG8_chr11_78095946_78144626 | 78105648 | T | TAA | intron_variant | MODIFIER | HG01081.hp2 HG02647.hp2 HG02922.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0044a0001c0003t0001g0104a0001c0003t0001g0105others(4): Show | 7 | 402 | 0.0174 | 2 | c.117 others(21): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 10/12 | chr11 | TogoVar | ||||||
ALG8_chr11_78095946_78144626 | 78107198 | A | AAT | intron_variant | MODIFIER | HG01081.hp2 HG01975.hp1 HG02080.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0009a0001c0001t0001g0017a0001c0001t0001g0037others(13): Show | 19 | 402 | 0.0473 | 2 | c.103 others(19): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 9/12 | chr11 | TogoVar | ||||||
ALG8_chr11_78095946_78144626 | 78111779 | T | TTC | intron_variant | MODIFIER | HG02622.hp1 HG02717.hp1 HG03471.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0015a0001c0003t0001g0034 | 3 | 402 | 0.0075 | 2 | c.898 others(17): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 8/12 | chr11 | TogoVar | ||||||
ALG8_chr11_78095946_78144626 | 78113371 | G | GTA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00597.hp2 others(88): Show |
a0001a0006a0008 | a0001c0001a0006c0007a0008c0010 | a0001c0001t0001a0006c0007t0001a0008c0010t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(76): Show | 91 | 402 | 0.2264 | 2 | c.777 others(17): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 7/12 | chr11 | TogoVar |