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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKR1D1_chr7_138071459_138123305 | 138097943 | G | C | missense_variant others(1): Show |
MODERATE | HG01257.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0029 | 1 | 424 | 0.0024 | 0 | c.456 others(3): Show |
p.Glu others(6): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 4/9 | 516/2684 | 456/981 | 152/326 | chr7 | TogoVar | |||
AKR1E2_chr10_4821207_4853062 | 4830845 | A | G | splice_region_variant others(1): Show |
LOW | HG02615.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0027 | 2 | 356 | 0.0056 | 0 | c.207 others(5): Show |
AKR1E2 | ENSG00000165568.18 | transcript | ENST00000298375.12 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
AKR1E2_chr10_4821207_4853062 | 4833472 | G | A | splice_region_variant others(1): Show |
LOW | HG00642.hp1 HG00741.hp2 HG01106.hp2 others(26): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0012a0002c0002t0014 | a0002c0002t0003g0008 a0002c0002t0003g0015 a0002c0002t0003g0016 others(14): Show |
29 | 356 | 0.0815 | 0 | c.324 others(5): Show |
AKR1E2 | ENSG00000165568.18 | transcript | ENST00000298375.12 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
AKR7A3_chr1_19277573_19293770 | 19282892 | C | T | missense_variant others(1): Show |
MODERATE | HG02965.hp1 | a0014 | a0014c0021 | a0014c0021t0005 | a0014c0021t0005g0042 | 1 | 430 | 0.0023 | 0 | c.835 others(3): Show |
p.Gly others(6): Show |
AKR7A3 | ENSG00000162482.5 | transcript | ENST00000361640.5 | protein_coding | 7/7 | 896/1215 | 835/996 | 279/331 | chr1 | TogoVar | |||
AKR7A3_chr1_19277573_19293770 | 19283989 | T | C | splice_region_variant others(1): Show |
LOW | HG02071.hp1 HG02132.hp2 HG04199.hp1 others(8): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0012 a0004c0005t0001g0023 a0004c0005t0001g0047 |
11 | 430 | 0.0256 | 0 | c.834 others(5): Show |
AKR7A3 | ENSG00000162482.5 | transcript | ENST00000361640.5 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
AKR7A3_chr1_19277573_19293770 | 19285999 | A | G | splice_region_variant others(1): Show |
LOW | HG01069.hp1 HG01099.hp1 HG01106.hp2 others(14): Show |
a0002a0004a0008others(1): Show | a0002c0004a0004c0005a0008c0012others(1): Show | a0002c0004t0001a0004c0005t0001a0008c0012t0001others(1): Show | a0002c0004t0001g0062 a0004c0005t0001g0009 a0008c0012t0001g0027 others(1): Show |
17 | 430 | 0.0395 | 0 | c.403 others(5): Show |
AKR7A3 | ENSG00000162482.5 | transcript | ENST00000361640.5 | protein_coding | 2/6 | chr1 | TogoVar | |||||||
AKT1S1_chr19_49864039_49882355 | 49871813 | A | G | splice_region_variant others(1): Show |
LOW | HG02523.hp1 NA19058.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0082 a0001c0003t0003g0084 |
2 | 418 | 0.0048 | 0 | c.456 others(3): Show |
p.Asp others(6): Show |
AKT1S1 | ENSG00000204673.11 | transcript | ENST00000344175.10 | protein_coding | 3/5 | 582/1775 | 456/771 | 152/256 | chr19 | TogoVar | |||
AKT1_chr14_104764349_104800748 | 104773098 | C | T | splice_region_variant others(1): Show |
LOW | NA19081.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0256 | 1 | 384 | 0.0026 | 0 | c.958 others(5): Show |
AKT1 | ENSG00000142208.18 | transcript | ENST00000649815.2 | protein_coding | 11/14 | chr14 | TogoVar | |||||||
AKT1_chr14_104764349_104800748 | 104773099 | G | A | splice_region_variant others(1): Show |
LOW | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 384 | 0.0026 | 0 | c.958 others(5): Show |
AKT1 | ENSG00000142208.18 | transcript | ENST00000649815.2 | protein_coding | 11/14 | chr14 | TogoVar | |||||||
AKTIP_chr16_53486040_53508209 | 53503148 | C | G | splice_region_variant | LOW | HG02109.hp1 NA21309.hp2 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0019 | 2 | 384 | 0.0052 | 0 | c.-72 others(3): Show |
AKTIP | ENSG00000166971.17 | transcript | ENST00000394657.12 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
ALAD_chr9_113381312_113406284 | 113390398 | C | A | splice_region_variant others(1): Show |
LOW | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 444 | 0.0023 | 0 | c.570 others(5): Show |
ALAD | ENSG00000148218.16 | transcript | ENST00000409155.8 | protein_coding | 7/11 | chr9 | TogoVar | |||||||
ALAS1_chr3_52193160_52219327 | 52203860 | C | T | splice_region_variant others(1): Show |
LOW | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 352 | 0.0028 | 0 | c.428 others(5): Show |
ALAS1 | ENSG00000023330.15 | transcript | ENST00000484952.6 | protein_coding | 4/11 | chr3 | TogoVar | |||||||
ALAS2_chrX_55004055_55035977 | 55015579 | A | C | splice_region_variant others(1): Show |
LOW | HG02647.hp1 HG03453.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0032 | 2 | 282 | 0.0071 | 0 | c.116 others(4): Show |
p.Leu others(6): Show |
ALAS2 | ENSG00000158578.21 | transcript | ENST00000650242.1 | protein_coding | 8/11 | 1218/1940 | 1167/1764 | 389/587 | chrX | TogoVar | |||
ALB_chr4_73399287_73426482 | 73408586 | C | T | splice_region_variant others(1): Show |
LOW | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 390 | 0.0026 | 0 | c.271 others(5): Show |
ALB | ENSG00000163631.19 | transcript | ENST00000295897.9 | protein_coding | 3/14 | chr4 | TogoVar | |||||||
ALB_chr4_73399287_73426482 | 73410309 | T | C | splice_region_variant others(1): Show |
LOW | HG01516.hp2 HG01517.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0039 | 2 | 390 | 0.0051 | 0 | c.616 others(5): Show |
ALB | ENSG00000163631.19 | transcript | ENST00000295897.9 | protein_coding | 5/14 | chr4 | TogoVar | |||||||
ALB_chr4_73399287_73426482 | 73416360 | A | T | splice_region_variant others(1): Show |
LOW | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 390 | 0.0026 | 0 | c.128 others(6): Show |
ALB | ENSG00000163631.19 | transcript | ENST00000295897.9 | protein_coding | 10/14 | chr4 | TogoVar | |||||||
ALB_chr4_73399287_73426482 | 73418311 | C | T | missense_variant others(1): Show |
MODERATE | NA18977.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0003 | 1 | 390 | 0.0026 | 0 | c.165 others(4): Show |
p.Thr others(6): Show |
ALB | ENSG00000163631.19 | transcript | ENST00000295897.9 | protein_coding | 12/15 | 1693/2285 | 1652/1830 | 551/609 | chr4 | TogoVar | |||
ALCAM_chr3_105361909_105581900 | 105540102 | A | G | splice_region_variant others(1): Show |
LOW | HG02922.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0337 | 1 | 376 | 0.0027 | 0 | c.858 others(3): Show |
p.Pro others(6): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 7/16 | 1358/4701 | 858/1752 | 286/583 | chr3 | TogoVar | |||
ALCAM_chr3_105361909_105581900 | 105547150 | A | G | missense_variant others(1): Show |
MODERATE | HG04204.hp2 | a0005 | a0005c0014 | a0005c0014t0002 | a0005c0014t0002g0083 | 1 | 376 | 0.0027 | 0 | c.110 others(4): Show |
p.Asp others(6): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 10/16 | 1606/4701 | 1106/1752 | 369/583 | chr3 | TogoVar | |||
ALDH16A1_chr19_49448225_49476050 | 49453425 | A | G | splice_region_variant others(1): Show |
LOW | HG02559.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0187 | 1 | 340 | 0.0029 | 0 | c.90+ others(4): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 1/16 | chr19 | TogoVar | |||||||
ALDH16A1_chr19_49448225_49476050 | 49464527 | G | A | splice_region_variant others(1): Show |
LOW | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 340 | 0.0029 | 0 | c.143 others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 11/16 | chr19 | TogoVar | |||||||
ALDH16A1_chr19_49448225_49476050 | 49465911 | G | A | splice_region_variant others(1): Show |
LOW | HG02451.hp1 HG02615.hp2 HG02630.hp2 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0031 a0003c0004t0002g0123 a0003c0004t0002g0124 others(1): Show |
5 | 340 | 0.0147 | 0 | c.173 others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 13/16 | chr19 | TogoVar | |||||||
ALDH16A1_chr19_49448225_49476050 | 49468373 | C | T | splice_region_variant others(1): Show |
LOW | HG00733.hp2 HG02486.hp2 NA18906.hp1 |
a0005 | a0005c0011 | a0005c0011t0009 | a0005c0011t0009g0027 a0005c0011t0009g0081 |
3 | 340 | 0.0088 | 0 | c.193 others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 14/16 | chr19 | TogoVar | |||||||
ALDH18A1_chr10_95600941_95661711 | 95613967 | T | C | splice_region_variant others(1): Show |
LOW | HG00140.hp1 | a0002 | a0002c0014 | a0002c0014t0003 | a0002c0014t0003g0058 | 1 | 370 | 0.0027 | 0 | c.180 others(4): Show |
p.Leu others(6): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 14/18 | 1943/3352 | 1800/2388 | 600/795 | chr10 | TogoVar | |||
ALDH18A1_chr10_95600941_95661711 | 95653292 | G | A | missense_variant others(1): Show |
MODERATE | NA18970.hp2 | a0005 | a0005c0017 | a0005c0017t0012 | a0005c0017t0012g0250 | 1 | 370 | 0.0027 | 0 | c.86C others(2): Show |
p.Ser others(5): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 2/18 | 229/3352 | 86/2388 | 29/795 | chr10 | TogoVar | |||
ALDH1A1_chr9_72895671_72958053 | 72925477 | G | T | splice_region_variant others(1): Show |
LOW | HG02451.hp1 HG02486.hp2 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0152 others(1): Show |
4 | 304 | 0.0132 | 0 | c.633 others(5): Show |
ALDH1A1 | ENSG00000165092.13 | transcript | ENST00000297785.8 | protein_coding | 6/12 | chr9 | TogoVar | |||||||
ALDH1A2_chr15_57948429_58070711 | 57961292 | G | T | splice_region_variant others(1): Show |
LOW | HG02258.hp2 HG02895.hp1 HG02897.hp1 others(17): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0013 a0002c0003t0003g0017 a0002c0003t0003g0018 others(17): Show |
20 | 324 | 0.0617 | 0 | c.125 others(4): Show |
p.Ile others(6): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 11/13 | 1315/3386 | 1254/1557 | 418/518 | chr15 | TogoVar | |||
ALDH1A3_chr15_100874831_100921626 | 100885376 | A | C | splice_region_variant others(1): Show |
LOW | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0062 | 1 | 412 | 0.0024 | 0 | c.204 others(5): Show |
ALDH1A3 | ENSG00000184254.17 | transcript | ENST00000329841.10 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
ALDH1A3_chr15_100874831_100921626 | 100893011 | G | A | splice_region_variant others(1): Show |
LOW | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0144 | 1 | 412 | 0.0024 | 0 | c.537 others(5): Show |
ALDH1A3 | ENSG00000184254.17 | transcript | ENST00000329841.10 | protein_coding | 5/12 | chr15 | TogoVar | |||||||
ALDH1A3_chr15_100874831_100921626 | 100900569 | C | A | splice_region_variant others(1): Show |
LOW | NA18941.hp2 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 a0001c0001t0001g0178 |
2 | 412 | 0.0049 | 0 | c.884 others(5): Show |
ALDH1A3 | ENSG00000184254.17 | transcript | ENST00000329841.10 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
ALDH1A3_chr15_100874831_100921626 | 100905695 | G | A | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(124): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0012 others(74): Show |
127 | 412 | 0.3083 | 0 | c.123 others(6): Show |
ALDH1A3 | ENSG00000184254.17 | transcript | ENST00000329841.10 | protein_coding | 10/12 | chr15 | TogoVar | |||||||
ALDH1L1_chr3_126098570_126185586 | 126131538 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(247): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0007a0001c0028others(34): Show | a0001c0001t0001a0001c0007t0001a0001c0028t0001others(34): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0023 others(232): Show |
250 | 336 | 0.7440 | 0 | c.147 others(6): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 12/22 | chr3 | TogoVar | |||||||
ALDH1L1_chr3_126098570_126185586 | 126136756 | G | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(78): Show |
a0002a0006a0008others(5): Show | a0002c0002a0002c0013a0006c0006others(9): Show | a0002c0002t0001a0002c0013t0001a0006c0006t0001others(9): Show | a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0013 others(72): Show |
81 | 336 | 0.2411 | 0 | c.134 others(6): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 11/22 | chr3 | TogoVar | |||||||
ALDH1L1_chr3_126098570_126185586 | 126136883 | C | T | missense_variant others(1): Show |
MODERATE | HG02109.hp1 HG02145.hp1 HG02451.hp1 others(4): Show |
a0011a0023 | a0011c0011a0023c0035 | a0011c0011t0001a0023c0035t0001 | a0011c0011t0001g0022 a0011c0011t0001g0024 a0011c0011t0001g0129 others(4): Show |
7 | 336 | 0.0208 | 0 | c.122 others(4): Show |
p.Val others(6): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 11/23 | 1359/3064 | 1225/2709 | 409/902 | chr3 | TogoVar | |||
ALDH1L1_chr3_126098570_126185586 | 126154648 | G | A | splice_region_variant others(1): Show |
LOW | HG03669.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 a0001c0001t0001g0281 |
2 | 336 | 0.0060 | 0 | c.631 others(5): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 5/22 | chr3 | TogoVar | |||||||
ALDH1L1_chr3_126098570_126185586 | 126155402 | C | A | missense_variant others(1): Show |
MODERATE | NA18995.hp1 | a0026 | a0026c0025 | a0026c0025t0001 | a0026c0025t0001g0151 | 1 | 336 | 0.0030 | 0 | c.630 others(3): Show |
p.Lys others(6): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 5/23 | 764/3064 | 630/2709 | 210/902 | chr3 | TogoVar | |||
ALDH2_chr12_111761933_111822532 | 111792790 | A | T | splice_region_variant others(1): Show |
LOW | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0099 | a0001c0001t0099g0078 | 1 | 340 | 0.0029 | 0 | c.108 others(6): Show |
ALDH2 | ENSG00000111275.13 | transcript | ENST00000261733.7 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
ALDH3A2_chr17_19643751_19682596 | 19652541 | A | G | splice_region_variant others(1): Show |
LOW | HG00642.hp1 HG01516.hp1 HG01517.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0004a0001c0003t0004a0001c0005t0019 | a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0045 others(9): Show |
15 | 364 | 0.0412 | 0 | c.386 others(5): Show |
ALDH3A2 | ENSG00000072210.19 | transcript | ENST00000176643.11 | protein_coding | 2/9 | chr17 | TogoVar | |||||||
ALDH3A2_chr17_19643751_19682596 | 19675560 | A | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(288): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(126): Show |
291 | 364 | 0.7995 | 0 | c.144 others(4): Show |
p.Ala others(6): Show |
ALDH3A2 | ENSG00000072210.19 | transcript | ENST00000176643.11 | protein_coding | 10/10 | 1667/3703 | 1446/1458 | 482/485 | chr17 | TogoVar | |||
ALDH3B1_chr11_68005327_68034276 | 68010396 | G | C | splice_region_variant others(1): Show |
LOW | HG04184.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0046 | 1 | 372 | 0.0027 | 0 | c.-2+ others(4): Show |
ALDH3B1 | ENSG00000006534.17 | transcript | ENST00000342456.11 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
ALDH3B1_chr11_68005327_68034276 | 68018644 | C | T | splice_region_variant others(1): Show |
LOW | HG00438.hp2 HG02040.hp2 HG02080.hp1 others(10): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0005 | a0001c0003t0002g0006 a0001c0003t0005g0006 a0001c0003t0005g0106 others(2): Show |
13 | 372 | 0.0349 | 0 | c.273 others(5): Show |
ALDH3B1 | ENSG00000006534.17 | transcript | ENST00000342456.11 | protein_coding | 3/9 | chr11 | TogoVar | |||||||
ALDH3B1_chr11_68005327_68034276 | 68019258 | G | A | splice_region_variant others(1): Show |
LOW | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 372 | 0.0027 | 0 | c.480 others(5): Show |
ALDH3B1 | ENSG00000006534.17 | transcript | ENST00000342456.11 | protein_coding | 5/9 | chr11 | TogoVar | |||||||
ALDH3B1_chr11_68005327_68034276 | 68019804 | C | T | splice_region_variant others(1): Show |
LOW | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 372 | 0.0027 | 0 | c.562 others(5): Show |
ALDH3B1 | ENSG00000006534.17 | transcript | ENST00000342456.11 | protein_coding | 6/9 | chr11 | TogoVar | |||||||
ALDH3B2_chr11_67657155_67679623 | 67665677 | C | T | splice_region_variant others(1): Show |
LOW | HG02622.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0165 | 1 | 388 | 0.0026 | 0 | c.320 others(5): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 6/9 | chr11 | TogoVar | |||||||
ALDH3B2_chr11_67657155_67679623 | 67667022 | G | A | splice_region_variant others(1): Show |
LOW | HG02145.hp2 HG02257.hp2 HG02809.hp2 |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0181 a0003c0004t0003g0182 a0003c0004t0003g0183 |
3 | 388 | 0.0077 | 0 | c.-81 others(5): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 2/9 | chr11 | TogoVar | |||||||
ALDH3B2_chr11_67657155_67679623 | 67667465 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(152): Show |
a0001a0009a0016 | a0001c0001a0001c0022a0001c0023others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0015others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(38): Show |
155 | 388 | 0.3995 | 0 | c.-82 others(5): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 2/9 | chr11 | TogoVar | |||||||
ALDH5A1_chr6_24489969_24542207 | 24504864 | C | T | splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG01943.hp2 HG02258.hp2 others(9): Show |
a0002a0013 | a0002c0002a0013c0017 | a0002c0002t0002a0002c0002t0005a0002c0002t0018others(2): Show | a0002c0002t0002g0060 a0002c0002t0002g0063 a0002c0002t0002g0064 others(9): Show |
12 | 366 | 0.0328 | 0 | c.610 others(5): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 3/9 | chr6 | TogoVar | |||||||
ALDH5A1_chr6_24489969_24542207 | 24504988 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG01346.hp2 |
a0002a0008 | a0002c0002a0008c0012 | a0002c0002t0012a0008c0012t0012 | a0002c0002t0012g0025 a0008c0012t0012g0026 |
2 | 366 | 0.0055 | 0 | c.726 others(5): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 4/9 | chr6 | TogoVar | |||||||
ALDH5A1_chr6_24489969_24542207 | 24504993 | G | A | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00438.hp1 HG00544.hp1 others(59): Show |
a0002a0004a0012others(1): Show | a0002c0002a0002c0015a0004c0007others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(11): Show | a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0082 others(57): Show |
62 | 366 | 0.1694 | 0 | c.726 others(5): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 4/9 | chr6 | TogoVar | |||||||
ALDH5A1_chr6_24489969_24542207 | 24532184 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG01070.hp2 HG01071.hp2 others(7): Show |
a0001a0002a0008others(1): Show | a0001c0009a0001c0016a0002c0002others(2): Show | a0001c0009t0023a0001c0016t0006a0002c0002t0006others(3): Show | a0001c0009t0023g0240 a0001c0016t0006g0200 a0002c0002t0006g0102 others(7): Show |
10 | 366 | 0.0273 | 0 | c.140 others(6): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 9/9 | chr6 | TogoVar |