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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FTO_chr16_53699156_54126941 | 53984321 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG03139.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0067 | a0001c0002t0003g0150a0001c0002t0067g0151 | 2 | 194 | 0.0103 | -15 | c.136 others(36): Show |
FTO | ENSG00000140718.22 | transcript | ENST00000471389.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FTO_chr16_53699156_54126941 | 54008805 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02647.hp2 HG02809.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0099a0001c0001t0001g0165a0001c0001t0002g0105others(7): Show | 10 | 194 | 0.0516 | -15 | c.136 others(36): Show |
FTO | ENSG00000140718.22 | transcript | ENST00000471389.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FTO_chr16_53699156_54126941 | 54015504 | TCCATGGC others(8): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00609.hp1 others(122): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0031a0001c0001t0001g0052a0001c0001t0001g0060others(122): Show | 125 | 194 | 0.6443 | -15 | c.136 others(36): Show |
FTO | ENSG00000140718.22 | transcript | ENST00000471389.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FTO_chr16_53699156_54126941 | 54018371 | TTAGATAG others(8): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0067 | a0001c0002t0067g0151 | 1 | 194 | 0.0052 | -15 | c.136 others(36): Show |
FTO | ENSG00000140718.22 | transcript | ENST00000471389.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FTO_chr16_53699156_54126941 | 54065098 | CATTTTAT others(8): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0002 | 1 | 194 | 0.0052 | -15 | c.136 others(36): Show |
FTO | ENSG00000140718.22 | transcript | ENST00000471389.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FUBP1_chr1_77939055_77984072 | 77941229 | TAGAAACC others(8): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(95): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0010others(59): Show | 98 | 278 | 0.3525 | -15 | c.*75 others(26): Show |
FUBP1 | ENSG00000162613.18 | transcript | ENST00000370768.7 | protein_coding | 2825 | chr1 | TogoVar | ||||||
FUCA1_chr1_23840077_23873290 | 23846599 | CCTTGTTG others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(140): Show |
a0002a0003a0007others(2): Show | a0002c0002a0003c0003a0003c0006others(3): Show | a0002c0002t0001a0002c0002t0004a0003c0003t0001others(4): Show | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0008others(93): Show | 143 | 380 | 0.3763 | -15 | c.116 others(32): Show |
FUCA1 | ENSG00000179163.12 | transcript | ENST00000374479.4 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
FUCA1_chr1_23840077_23873290 | 23852448 | TCCCTCTC others(8): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02622.hp1 HG02809.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0056a0004c0005t0001g0012a0004c0005t0001g0057 | 5 | 380 | 0.0132 | -15 | c.969 others(32): Show |
FUCA1 | ENSG00000179163.12 | transcript | ENST00000374479.4 | protein_coding | 5/7 | chr1 | TogoVar | ||||||
FUNDC2_chrX_155021844_155065304 | 155042175 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 267 | 0.0038 | -15 | c.285 others(32): Show |
FUNDC2 | ENSG00000165775.18 | transcript | ENST00000369498.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FUS_chr16_31175139_31196605 | 31192564 | TATTTTTT others(8): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02615.hp1 HG02717.hp1 others(6): Show |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0005a0001c0004t0003g0050a0001c0004t0003g0051 | 9 | 346 | 0.0260 | -15 | c.*11 others(26): Show |
FUS | ENSG00000089280.19 | transcript | ENST00000254108.12 | protein_coding | 960 | chr16 | TogoVar | ||||||
FUT10_chr8_33365824_33478146 | 33380189 | CTATATAT others(8): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01993.hp1 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0107a0001c0001t0001g0116a0001c0001t0014g0094 | 3 | 268 | 0.0112 | -15 | c.121 others(34): Show |
FUT10 | ENSG00000172728.16 | transcript | ENST00000327671.10 | protein_coding | 4/4 | chr8 | TogoVar | ||||||
FUT10_chr8_33365824_33478146 | 33380202 | CTATATAT others(8): Show |
C | intron_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0259 | 1 | 268 | 0.0037 | -15 | c.121 others(34): Show |
FUT10 | ENSG00000172728.16 | transcript | ENST00000327671.10 | protein_coding | 4/4 | chr8 | TogoVar | ||||||
FUT10_chr8_33365824_33478146 | 33431547 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0119 | 1 | 268 | 0.0037 | -15 | c.376 others(34): Show |
FUT10 | ENSG00000172728.16 | transcript | ENST00000327671.10 | protein_coding | 3/4 | chr8 | TogoVar | ||||||
FUT10_chr8_33365824_33478146 | 33449278 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0134 | 1 | 268 | 0.0037 | -15 | c.376 others(32): Show |
FUT10 | ENSG00000172728.16 | transcript | ENST00000327671.10 | protein_coding | 3/4 | chr8 | TogoVar | ||||||
FUT11_chr10_73767276_73781219 | 73773118 | GGTGTCCA others(8): Show |
G | intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 394 | 0.0025 | -15 | c.709 others(28): Show |
FUT11 | ENSG00000196968.11 | transcript | ENST00000372841.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
FUT8_chr14_65407730_65749121 | 65508491 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG02723.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0369 | 1 | 374 | 0.0027 | -15 | c.-22 others(36): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FUT8_chr14_65407730_65749121 | 65575568 | TTTCCTTC others(8): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(42): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0002g0023a0001c0001t0002g0026a0001c0001t0002g0027others(42): Show | 45 | 374 | 0.1203 | -15 | c.203 others(34): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FUT8_chr14_65407730_65749121 | 65576696 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(4): Show | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0101others(44): Show | 47 | 374 | 0.1257 | -15 | c.203 others(34): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FUT9_chr6_96010974_96220612 | 96123060 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00621.hp1 others(50): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0295a0001c0001t0001g0305a0001c0001t0002g0033others(49): Show | 53 | 320 | 0.1656 | -15 | c.-9+ others(30): Show |
FUT9 | ENSG00000172461.11 | transcript | ENST00000302103.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FUT9_chr6_96010974_96220612 | 96129282 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp2 others(190): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0023others(187): Show | 193 | 320 | 0.6031 | -15 | c.-9+ others(32): Show |
FUT9 | ENSG00000172461.11 | transcript | ENST00000302103.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FXR1_chr3_180907670_180987753 | 180961355 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0296a0001c0001t0015g0297 | 2 | 320 | 0.0063 | -15 | c.991 others(29): Show |
FXR1 | ENSG00000114416.19 | transcript | ENST00000357559.9 | protein_coding | 10/16 | chr3 | TogoVar | ||||||
FXYD4_chr10_43366636_43381335 | 43380675 | CAACTAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 426 | 0.0024 | -15 | c.*45 others(26): Show |
FXYD4 | ENSG00000150201.15 | transcript | ENST00000476166.6 | protein_coding | 4341 | chr10 | TogoVar | ||||||
FXYD5_chr19_35149735_35174881 | 35172143 | TCAGTACT others(8): Show |
T | downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 462 | 0.0022 | -15 | c.*25 others(26): Show |
FXYD5 | ENSG00000089327.15 | transcript | ENST00000392219.7 | protein_coding | 2263 | chr19 | TogoVar | ||||||
FXYD6_chr11_117831981_117881658 | 117858652 | TTTCTTTC others(8): Show |
T | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0119 | 1 | 430 | 0.0023 | -15 | c.-5- others(32): Show |
FXYD6 | ENSG00000137726.17 | transcript | ENST00000526014.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
FXYD6_chr11_117831981_117881658 | 117858695 | CTTTCTTT others(8): Show |
C | intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 430 | 0.0023 | -15 | c.-5- others(32): Show |
FXYD6 | ENSG00000137726.17 | transcript | ENST00000526014.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
FYB1_chr5_39100252_39224563 | 39148381 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG01346.hp2 HG02055.hp1 HG02559.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(7): Show | a0001c0001t0002g0055a0001c0001t0002g0077a0001c0001t0006g0054others(9): Show | 12 | 326 | 0.0368 | -15 | c.129 others(34): Show |
FYB1 | ENSG00000082074.19 | transcript | ENST00000512982.4 | protein_coding | 3/18 | chr5 | TogoVar | ||||||
FYB1_chr5_39100252_39224563 | 39176137 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(101): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0004a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0306a0001c0001t0001g0315a0001c0001t0002g0026others(101): Show | 104 | 326 | 0.3190 | -15 | c.113 others(36): Show |
FYB1 | ENSG00000082074.19 | transcript | ENST00000512982.4 | protein_coding | 2/18 | chr5 | TogoVar | ||||||
FYCO1_chr3_45912903_46000824 | 45982605 | ATCCTGGA others(8): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0011 | a0011c0019 | a0011c0019t0003 | a0011c0019t0003g0132 | 1 | 336 | 0.0030 | -15 | c.56- others(28): Show |
FYCO1 | ENSG00000163820.16 | transcript | ENST00000296137.7 | protein_coding | 2/17 | chr3 | TogoVar | ||||||
FYN_chr6_111655332_111878452 | 111732281 | AATACAAT others(8): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02976.hp2 HG03225.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008 | a0001c0001t0005g0218a0001c0001t0008g0097a0001c0001t0008g0100others(3): Show | 6 | 234 | 0.0256 | -15 | c.-11 others(34): Show |
FYN | ENSG00000010810.18 | transcript | ENST00000354650.7 | protein_coding | 3/13 | chr6 | TogoVar | ||||||
FYN_chr6_111655332_111878452 | 111802233 | TCCTCTCC others(8): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 234 | 0.0043 | -15 | c.-81 others(34): Show |
FYN | ENSG00000010810.18 | transcript | ENST00000354650.7 | protein_coding | 2/13 | chr6 | TogoVar | ||||||
FYTTD1_chr3_197744883_197792596 | 197786116 | CTTTTTTT others(8): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0008a0001c0003t0023a0001c0003t0024 | a0001c0003t0008g0012a0001c0003t0008g0086a0001c0003t0008g0087others(2): Show | 6 | 256 | 0.0234 | -15 | c.*42 others(26): Show |
FYTTD1 | ENSG00000122068.13 | transcript | ENST00000241502.9 | protein_coding | 9/9 | 4209 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
FZD8_chr10_35633247_35647296 | 35640327 | CCCGCGCC others(8): Show |
C | disruptive_inframe_deletion | MODERATE | HG00673.hp2 | a0005 | a0005c0013 | a0005c0013t0004 | a0005c0013t0004g0000 | 1 | 404 | 0.0025 | -15 | c.108 others(24): Show |
p.Ala others(13): Show |
FZD8 | ENSG00000177283.8 | transcript | ENST00000374694.3 | protein_coding | 1/1 | 1969/4050 | 1088/2085 | 363/694 | chr10 | TogoVar | ||
FZR1_chr19_3501311_3543334 | 3528041 | ACCCTCCC others(8): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02965.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0035a0001c0001t0011g0036a0001c0001t0011g0037others(2): Show | 5 | 314 | 0.0159 | -15 | c.654 others(30): Show |
FZR1 | ENSG00000105325.15 | transcript | ENST00000441788.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
G3BP2_chr4_75637786_75678411 | 75652713 | ATAAATGT others(8): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0240 | 1 | 330 | 0.0030 | -15 | c.825 others(32): Show |
G3BP2 | ENSG00000138757.15 | transcript | ENST00000359707.9 | protein_coding | 8/11 | chr4 | TogoVar | ||||||
G3BP2_chr4_75637786_75678411 | 75674714 | ATATATTT others(8): Show |
A | upstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 330 | 0.0030 | -15 | c.-15 others(26): Show |
G3BP2 | ENSG00000138757.15 | transcript | ENST00000359707.9 | protein_coding | 1304 | chr4 | TogoVar | ||||||
G6PC1_chr17_42895799_42919438 | 42917121 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp2 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0095a0001c0001t0006g0114 | 2 | 366 | 0.0055 | -15 | c.*56 others(26): Show |
G6PC1 | ENSG00000131482.10 | transcript | ENST00000253801.7 | protein_coding | 2684 | chr17 | TogoVar | ||||||
G6PD_chrX_154526391_154551846 | 154526470 | CAACCCTG others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0037 | 1 | 285 | 0.0035 | -15 | c.*55 others(26): Show |
G6PD | ENSG00000160211.20 | transcript | ENST00000393562.10 | protein_coding | 4920 | chrX | TogoVar | ||||||
G6PD_chrX_154526391_154551846 | 154526497 | CTTGAACC others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02615.hp2 NA18942.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0011a0001c0001t0002g0040a0001c0001t0002g0093others(2): Show | 7 | 285 | 0.0246 | -15 | c.*54 others(26): Show |
G6PD | ENSG00000160211.20 | transcript | ENST00000393562.10 | protein_coding | 4893 | chrX | TogoVar | ||||||
GAA_chr17_80096581_80124881 | 80097900 | AAAAAGAA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00609.hp2 HG00735.hp2 HG00741.hp1 others(35): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0008a0001c0039others(7): Show | a0001c0002t0006a0001c0002t0007a0001c0008t0003others(8): Show | a0001c0002t0006g0002a0001c0002t0007g0002a0001c0008t0003g0004others(14): Show | 38 | 416 | 0.0914 | -15 | c.-40 others(26): Show |
GAA | ENSG00000171298.14 | transcript | ENST00000302262.8 | protein_coding | 3680 | chr17 | TogoVar | ||||||
GAA_chr17_80096581_80124881 | 80120007 | CTCAAGCC others(8): Show |
C | downstream_gene_variant | MODIFIER | NA19030.hp1 | a0006 | a0006c0009 | a0006c0009t0004 | a0006c0009t0004g0067 | 1 | 416 | 0.0024 | -15 | c.*67 others(24): Show |
GAA | ENSG00000171298.14 | transcript | ENST00000302262.8 | protein_coding | 127 | chr17 | TogoVar | ||||||
GAA_chr17_80096581_80124881 | 80120332 | TCCCCTCC others(8): Show |
T | downstream_gene_variant | MODIFIER | NA18965.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0024 | 1 | 416 | 0.0024 | -15 | c.*10 others(26): Show |
GAA | ENSG00000171298.14 | transcript | ENST00000302262.8 | protein_coding | 452 | chr17 | TogoVar | ||||||
GAA_chr17_80096581_80124881 | 80122270 | GGGTTAAG others(8): Show |
G | downstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0052 | 1 | 416 | 0.0024 | -15 | c.*29 others(26): Show |
GAA | ENSG00000171298.14 | transcript | ENST00000302262.8 | protein_coding | 2390 | chr17 | TogoVar | ||||||
GAB1_chr4_143331876_143479565 | 143334221 | ATTTCTTT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG02148.hp1 HG02976.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016a0001c0001t0027 | a0001c0001t0002g0174a0001c0001t0016g0164a0001c0001t0016g0165others(1): Show | 4 | 194 | 0.0206 | -15 | c.-29 others(26): Show |
GAB1 | ENSG00000109458.10 | transcript | ENST00000262994.9 | protein_coding | 2654 | chr4 | TogoVar | ||||||
GAB2_chr11_78210293_78422820 | 78291548 | CTTTTTTC others(8): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG03471.hp2 NA20300.hp1 |
a0002a0008 | a0002c0006a0008c0015 | a0002c0006t0007a0008c0015t0007 | a0002c0006t0007g0178a0002c0006t0007g0271a0008c0015t0007g0148 | 3 | 288 | 0.0104 | -15 | c.76- others(32): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
GAB2_chr11_78210293_78422820 | 78406882 | CAGTAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG02055.hp1 HG02055.hp2 others(24): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0046a0001c0002t0009a0001c0002t0055others(10): Show | a0001c0001t0046g0116a0001c0002t0009g0135a0001c0002t0009g0136others(24): Show | 27 | 288 | 0.0938 | -15 | c.75+ others(32): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
GAB3_chrX_154670249_154756077 | 154672242 | TTTCTTCT others(8): Show |
T | downstream_gene_variant | MODIFIER | HG01358.hp1 HG01433.hp1 HG01975.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0119a0001c0001t0002g0072a0001c0001t0003g0001others(9): Show | 12 | 257 | 0.0467 | -15 | c.*59 others(26): Show |
GAB3 | ENSG00000160219.12 | transcript | ENST00000424127.3 | protein_coding | 3006 | chrX | TogoVar | ||||||
GAB3_chrX_154670249_154756077 | 154672331 | CCTTCTTC others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01975.hp1 HG01981.hp2 others(7): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0092a0001c0001t0001g0095a0001c0001t0002g0012others(6): Show | 10 | 257 | 0.0389 | -15 | c.*58 others(26): Show |
GAB3 | ENSG00000160219.12 | transcript | ENST00000424127.3 | protein_coding | 2917 | chrX | TogoVar | ||||||
GABBR2_chr9_98283109_98713935 | 98349344 | GTTTTGTT others(8): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01081.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0015a0001c0001t0016a0001c0002t0001others(8): Show | a0001c0001t0015g0042a0001c0001t0016g0037a0001c0002t0001g0137others(9): Show | 12 | 164 | 0.0732 | -15 | c.189 others(36): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 13/18 | chr9 | TogoVar | ||||||
GABPA_chr21_25729972_25777460 | 25730736 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0023a0001c0001t0001g0024others(21): Show | 30 | 376 | 0.0798 | -15 | c.-48 others(26): Show |
GABPA | ENSG00000154727.11 | transcript | ENST00000400075.4 | protein_coding | 4235 | chr21 | TogoVar | ||||||
GABPB1_chr15_50270389_50360198 | 50277914 | TGACCTAC others(8): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0295 | 1 | 366 | 0.0027 | -15 | c.*70 others(24): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 9/9 | 703 | chr15 | TogoVar |