| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EIF4A2_chr3_186778577_186794897 | 186790846 | TAAAGAGG others(63): Show |
T | downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 456 | 0.0022 | -70 | c.*15 others(81): Show |
EIF4A2 | ENSG00000156976.17 | transcript | ENST00000323963.10 | protein_coding | 950 | chr3 | TogoVar | ||||||
| EIPR1_chr2_3183970_3382818 | 3331105 | GCACACAC others(63): Show |
G | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 250 | 0.0040 | -70 | c.259 others(87): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
| EIPR1_chr2_3183970_3382818 | 3352173 | GGACACCT others(63): Show |
G | intron_variant | MODIFIER | NA18950.hp2 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0230a0001c0001t0003g0241 | 2 | 250 | 0.0080 | -70 | c.126 others(87): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 2/8 | chr2 | TogoVar | ||||||
| EIPR1_chr2_3183970_3382818 | 3352366 | TCCACACT others(63): Show |
T | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 250 | 0.0040 | -70 | c.126 others(87): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 2/8 | chr2 | TogoVar | ||||||
| ELL2_chr5_95880098_95966851 | 95927450 | TACACACA others(63): Show |
T | intron_variant | MODIFIER | HG03041.hp1 HG03139.hp1 NA18965.hp2 |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0001a0002c0002t0001 | a0001c0004t0001g0232a0002c0002t0001g0138a0002c0002t0001g0147 | 3 | 314 | 0.0096 | -70 | c.196 others(87): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
| ELOVL7_chr5_60746791_60849269 | 60819054 | GGGAGGGG others(63): Show |
G | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 258 | 0.0039 | -70 | c.-85 others(89): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | ||||||
| ELOVL7_chr5_60746791_60849269 | 60819064 | GGGAGGGG others(63): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01358.hp2 HG01884.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0067a0001c0001t0001g0068a0001c0001t0001g0094others(20): Show | 23 | 258 | 0.0892 | -70 | c.-85 others(89): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | ||||||
| EML5_chr14_88607431_88797953 | 88796329 | ATATATAT others(63): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00609.hp2 others(56): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0022a0001c0001t0024others(8): Show | a0001c0001t0001g0280a0001c0001t0022g0203a0001c0001t0022g0204others(56): Show | 59 | 332 | 0.1777 | -70 | c.-38 others(81): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3377 | chr14 | TogoVar | ||||||
| EPHA3_chr3_89102621_89487134 | 89485157 | ACTCTCAT others(63): Show |
A | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01175.hp1 HG01243.hp1 others(15): Show |
a0002a0004a0006 | a0002c0002a0002c0005a0002c0013others(2): Show | a0002c0002t0002a0002c0005t0005a0002c0005t0018others(3): Show | a0002c0002t0002g0089a0002c0005t0005g0070a0002c0005t0005g0071others(15): Show | 18 | 200 | 0.0900 | -70 | c.*56 others(81): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 3024 | chr3 | TogoVar | ||||||
| EPHA8_chr1_22558489_22608595 | 22599648 | AAGGAAGG others(63): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02818.hp2 others(7): Show |
a0002 | a0002c0004 | a0002c0004t0011a0002c0004t0014a0002c0004t0032others(1): Show | a0002c0004t0011g0061a0002c0004t0011g0177a0002c0004t0011g0178others(5): Show | 10 | 342 | 0.0292 | -70 | c.238 others(87): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | chr1 | TogoVar | ||||||
| ERC1_chr12_986223_1500931 | 1196865 | TCTCTCTC others(63): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0089 | a0002c0002t0089g0037 | 1 | 162 | 0.0062 | -70 | c.235 others(89): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | chr12 | TogoVar | ||||||
| ERGIC1_chr5_172829251_172957683 | 172893868 | GATATATA others(63): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG03195.hp1 HG03516.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0291a0001c0001t0003g0015a0001c0001t0003g0321others(3): Show | 6 | 334 | 0.0180 | -70 | c.83- others(85): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ERICH1_chr8_659200_736224 | 699727 | TCACAGGC others(63): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00621.hp2 others(17): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0136others(16): Show | 20 | 378 | 0.0529 | -70 | c.170 others(87): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
| ERICH5_chr8_98059568_98098609 | 98073432 | CTATATAT others(63): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0353 | 1 | 442 | 0.0023 | -70 | c.58+ others(85): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ESPNL_chr2_238095340_238138287 | 238098568 | TGCCCACA others(63): Show |
T | upstream_gene_variant | MODIFIER | NA18977.hp1 | a0003 | a0003c0041 | a0003c0041t0006 | a0003c0041t0006g0300 | 1 | 408 | 0.0025 | -70 | c.-18 others(81): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 1771 | chr2 | TogoVar | ||||||
| ESYT2_chr7_158725997_158834509 | 158803880 | GGAGAAGG others(63): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0192 | 1 | 370 | 0.0027 | -70 | c.331 others(87): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1/22 | chr7 | TogoVar | ||||||
| ESYT2_chr7_158725997_158834509 | 158803985 | CGAGAAGG others(63): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02723.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0009a0001c0006t0011 | a0001c0006t0009g0190a0001c0006t0011g0188a0001c0006t0011g0189others(1): Show | 4 | 370 | 0.0108 | -70 | c.331 others(87): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1/22 | chr7 | TogoVar | ||||||
| ETS1_chr11_128453765_128592558 | 128584962 | GAAAGAAA others(63): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG02698.hp2 others(2): Show |
a0001 | a0001c0002a0001c0006a0001c0008 | a0001c0002t0001a0001c0002t0004a0001c0002t0012others(2): Show | a0001c0002t0001g0131a0001c0002t0004g0120a0001c0002t0012g0143others(2): Show | 5 | 286 | 0.0175 | -70 | c.-15 others(87): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
| ETS1_chr11_128453765_128592558 | 128585061 | AAAGAAAG others(63): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG03130.hp1 HG04228.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0002t0006 | a0001c0001t0004g0165a0001c0001t0005g0153a0001c0002t0006g0167 | 3 | 286 | 0.0105 | -70 | c.-15 others(87): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
| EWSR1_chr22_29263268_29305521 | 29299960 | GTTGGGAG others(63): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(266): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(210): Show | 269 | 390 | 0.6897 | -70 | c.193 others(85): Show |
EWSR1 | ENSG00000182944.18 | transcript | ENST00000397938.7 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| EZR_chr6_158760748_158824368 | 158803536 | TATATATA others(63): Show |
T | intron_variant | MODIFIER | NA18975.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | 312 | 0.0064 | -70 | c.13- others(87): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar | ||||||
| EZR_chr6_158760748_158824368 | 158803566 | TATATATA others(63): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02630.hp1 NA18978.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215a0001c0001t0002g0216a0001c0001t0002g0258 | 3 | 312 | 0.0096 | -70 | c.13- others(87): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar | ||||||
| FAM174B_chr15_92612448_92660775 | 92630855 | GTTACATA others(63): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG02622.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0047others(1): Show | a0001c0001t0004g0347a0001c0001t0010g0362a0001c0001t0047g0364others(1): Show | 4 | 394 | 0.0102 | -70 | c.345 others(85): Show |
FAM174B | ENSG00000185442.13 | transcript | ENST00000327355.6 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
| FAM9B_chrX_9019232_9039127 | 9021313 | TATATATT others(63): Show |
T | downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 258 | 0.0039 | -70 | c.*40 others(81): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2918 | chrX | TogoVar | ||||||
| FARP1_chr13_98138094_98460176 | 98153458 | CATTATAT others(63): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0173 | 1 | 218 | 0.0046 | -70 | c.-24 others(88): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| FARP1_chr13_98138094_98460176 | 98378907 | ATAATATA others(63): Show |
A | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0030 | 1 | 218 | 0.0046 | -70 | c.496 others(86): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| FBLN1_chr22_45497883_45606135 | 45568733 | CCTGTAGG others(63): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(137): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0009a0001c0001t0001g0018a0001c0001t0001g0020others(137): Show | 140 | 346 | 0.4046 | -70 | c.169 others(89): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| FBN1_chr15_48403313_48650709 | 48591701 | AGTCTTTA others(63): Show |
A | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 288 | 0.0035 | -70 | c.538 others(87): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar | ||||||
| FBXO25_chr8_401958_482967 | 402605 | CCCCCCAG others(63): Show |
C | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01928.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0015a0002c0002t0013 | a0001c0001t0015g0037a0001c0001t0015g0355a0001c0001t0015g0356others(1): Show | 5 | 412 | 0.0121 | -70 | c.-44 others(81): Show |
FBXO25 | ENSG00000147364.17 | transcript | ENST00000350302.8 | protein_coding | 4352 | chr8 | TogoVar | ||||||
| FBXO34_chr14_55266421_55358611 | 55331675 | ATATATAT others(63): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG02056.hp1 HG02080.hp1 others(5): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0002 | a0002c0002t0002g0014a0003c0003t0002g0002a0003c0003t0002g0048others(5): Show | 8 | 334 | 0.0240 | -70 | c.-10 others(89): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| FER_chr5_108742897_109201841 | 108844988 | GTGTGTGT others(63): Show |
G | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0008 | a0001c0008t0012 | a0001c0008t0012g0094 | 1 | 138 | 0.0073 | -70 | c.481 others(87): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| FMN1_chr15_32760544_33199714 | 32949964 | TACACACA others(63): Show |
T | intron_variant | MODIFIER | HG01109.hp2 | a0046 | a0046c0068 | a0046c0068t0056 | a0046c0068t0056g0177 | 1 | 196 | 0.0051 | -70 | c.313 others(91): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 9/20 | chr15 | TogoVar | ||||||
| FNIP1_chr5_131636714_131802017 | 131785009 | TATATATA others(63): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG03139.hp1 NA19043.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0066a0001c0005t0001g0067a0001c0005t0001g0068 | 3 | 328 | 0.0092 | -70 | c.92+ others(87): Show |
FNIP1 | ENSG00000217128.13 | transcript | ENST00000510461.6 | protein_coding | 1/17 | chr5 | TogoVar | ||||||
| FOXK2_chr17_82514732_82609602 | 82579466 | GCCCATGA others(63): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01361.hp1 HG01433.hp1 others(1): Show |
a0002a0009 | a0002c0002a0009c0011 | a0002c0002t0002a0009c0011t0004 | a0002c0002t0002g0107a0002c0002t0002g0111a0002c0002t0002g0113others(1): Show | 4 | 308 | 0.0130 | -70 | c.910 others(87): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| FOXK2_chr17_82514732_82609602 | 82580201 | CTCCCACA others(63): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0017 | a0017c0018 | a0017c0018t0006 | a0017c0018t0006g0230 | 1 | 308 | 0.0033 | -70 | c.910 others(87): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| FOXK2_chr17_82514732_82609602 | 82580498 | GCCCTCCT others(63): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0016 | a0016c0015 | a0016c0015t0005 | a0016c0015t0005g0188 | 1 | 308 | 0.0033 | -70 | c.910 others(87): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| FOXN3_chr14_89151177_89422233 | 89361399 | GCACCACC others(63): Show |
G | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0097 | 1 | 230 | 0.0044 | -70 | c.544 others(89): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
| FRAS1_chr4_78052323_78549269 | 78129505 | TTGAATTA others(63): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG01884.hp2 HG01891.hp2 others(28): Show |
a0001a0004a0005others(22): Show | a0001c0001a0004c0005a0004c0017others(24): Show | a0001c0001t0010a0004c0005t0007a0004c0017t0007others(27): Show | a0001c0001t0010g0146a0004c0005t0007g0138a0004c0017t0007g0139others(28): Show | 31 | 178 | 0.1742 | -70 | c.108 others(89): Show |
FRAS1 | ENSG00000138759.20 | transcript | ENST00000512123.4 | protein_coding | 2/73 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| FRK_chr6_115926149_116065891 | 115958696 | GAAAGAAA others(63): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02896.hp1 HG03225.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0023others(3): Show | a0001c0001t0001g0104a0001c0001t0001g0124a0001c0001t0001g0125others(6): Show | 9 | 274 | 0.0329 | -70 | c.800 others(87): Show |
FRK | ENSG00000111816.8 | transcript | ENST00000606080.2 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
| FRMD8_chr11_65381637_65418525 | 65417760 | GGGAGGCA others(63): Show |
G | downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 366 | 0.0027 | -70 | c.*64 others(81): Show |
FRMD8 | ENSG00000126391.14 | transcript | ENST00000317568.10 | protein_coding | 4236 | chr11 | TogoVar | ||||||
| FSHR_chr2_48957157_49159515 | 49127829 | CCTCTTCT others(63): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG03130.hp1 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0003 | a0003c0003t0001g0149a0003c0003t0001g0161a0003c0003t0003g0159 | 3 | 350 | 0.0086 | -70 | c.152 others(89): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
| FUT8_chr14_65407730_65749121 | 65611181 | TCATACAC others(63): Show |
T | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 374 | 0.0027 | -70 | c.204 others(87): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| GAL3ST2_chr2_241771822_241809287 | 241805486 | TCCCCCCT others(63): Show |
T | downstream_gene_variant | MODIFIER | HG02523.hp2 HG03710.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0173a0002c0002t0002g0129 | 2 | 314 | 0.0064 | -70 | c.*13 others(81): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1200 | chr2 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805676 | CCCCTCAG others(63): Show |
C | downstream_gene_variant | MODIFIER | HG02717.hp1 NA18950.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0187a0002c0002t0001g0018 | 2 | 314 | 0.0064 | -70 | c.*15 others(81): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1390 | chr2 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805712 | TCCCCCCT others(63): Show |
T | downstream_gene_variant | MODIFIER | NA18969.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 | 1 | 314 | 0.0032 | -70 | c.*15 others(81): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1426 | chr2 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241806192 | CTCCCCCC others(63): Show |
C | downstream_gene_variant | MODIFIER | NA19063.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0003 | 1 | 314 | 0.0032 | -70 | c.*20 others(81): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1906 | chr2 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241806462 | TCCCCCCT others(63): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG03195.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0194a0002c0002t0002g0152 | 2 | 314 | 0.0064 | -70 | c.*22 others(81): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2176 | chr2 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241806688 | TCCCCCCT others(63): Show |
T | downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 314 | 0.0032 | -70 | c.*25 others(81): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2402 | chr2 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241806765 | CCCCTCAG others(63): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp2 | a0003 | a0003c0011 | a0003c0011t0001 | a0003c0011t0001g0118 | 1 | 314 | 0.0032 | -70 | c.*26 others(81): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2479 | chr2 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241806918 | TCCCCCCT others(63): Show |
T | downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 314 | 0.0032 | -70 | c.*27 others(81): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2632 | chr2 | TogoVar |