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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FTCD_chr21_46131779_46160579 | 46140819 | AGCCTTCA others(43): Show |
A | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 | 1 | 201 | 0.0050 | -50 | c.126 others(69): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
FTHL17_chrX_31066233_31077041 | 31067393 | CATATGCA others(43): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 324 | 0.0031 | -50 | c.*39 others(61): Show |
FTHL17 | ENSG00000132446.7 | transcript | ENST00000359202.5 | protein_coding | 3839 | chrX | TogoVar | |||||||
FUNDC1_chrX_44518639_44547859 | 44531265 | CACACACA others(43): Show |
C | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 311 | 0.0032 | -50 | c.262 others(67): Show |
FUNDC1 | ENSG00000069509.6 | transcript | ENST00000378045.5 | protein_coding | 3/4 | chrX | TogoVar | |||||||
FUT10_chr8_33365824_33478146 | 33380076 | CACTATAT others(43): Show |
C | intron_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0179 | 1 | 253 | 0.0040 | -50 | c.121 others(69): Show |
FUT10 | ENSG00000172728.16 | transcript | ENST00000327671.10 | protein_coding | 4/4 | chr8 | TogoVar | |||||||
FUT5_chr19_5860826_5875540 | 5861153 | ACCATCTT others(43): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0006a0001c0012others(19): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0015 others(95): Show |
307 | 450 | 0.6822 | -50 | c.*53 others(61): Show |
FUT5 | ENSG00000130383.7 | transcript | ENST00000588525.1 | protein_coding | 4672 | chr19 | TogoVar | |||||||
FUT8_chr14_65407730_65749121 | 65611184 | TACACACA others(43): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG02027.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026 | a0001c0001t0002g0038 a0001c0001t0002g0078 a0001c0001t0026g0112 |
3 | 289 | 0.0104 | -50 | c.204 others(67): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FUT8_chr14_65407730_65749121 | 65611207 | GCGCGCGC others(43): Show |
G | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 357 | 0.0028 | -50 | c.204 others(67): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FUT8_chr14_65407730_65749121 | 65611211 | GCGCGCGC others(43): Show |
G | intron_variant | MODIFIER | HG01928.hp2 HG02572.hp2 HG02809.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0010a0001c0002t0007a0002c0004t0001others(1): Show | a0001c0001t0010g0089 a0001c0001t0010g0090 a0001c0002t0007g0307 others(2): Show |
5 | 301 | 0.0166 | -50 | c.204 others(67): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FUT8_chr14_65407730_65749121 | 65611213 | GCGCGCGC others(43): Show |
G | intron_variant | MODIFIER | NA18954.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0252 | 1 | 342 | 0.0029 | -50 | c.204 others(67): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FUT8_chr14_65407730_65749121 | 65692417 | CACCTCCC others(43): Show |
C | intron_variant | MODIFIER | HG02040.hp1 HG02155.hp2 NA18939.hp2 others(12): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0004a0001c0010t0004 | a0001c0001t0002g0195 a0001c0001t0004g0001 a0001c0001t0004g0007 others(12): Show |
15 | 367 | 0.0409 | -50 | c.835 others(69): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 7/10 | chr14 | TogoVar | |||||||
FUT8_chr14_65407730_65749121 | 65692459 | ACCCCCCC others(43): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(90): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0117 a0001c0001t0002g0021 a0001c0001t0002g0022 others(90): Show |
93 | 372 | 0.2500 | -50 | c.835 others(69): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FUT8_chr14_65407730_65749121 | 65692550 | AGGGGGGC others(43): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0004 | a0002c0004t0018 | a0002c0004t0018g0249 | 1 | 372 | 0.0027 | -50 | c.835 others(69): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FZD10_chr12_130157464_130170740 | 130157786 | CACACACA others(43): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01081.hp1 others(15): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(2): Show | a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0012g0000 others(2): Show |
18 | 448 | 0.0402 | -50 | c.-51 others(61): Show |
FZD10 | ENSG00000111432.5 | transcript | ENST00000229030.5 | protein_coding | 4677 | chr12 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26764163 | AAAAAAAA others(43): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 174 | 0.0057 | -50 | c.240 others(67): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27388112 | AGAAGGAA others(43): Show |
A | intron_variant | MODIFIER | HG03516.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0006 | a0001c0001t0001g0038 a0001c0003t0006g0034 |
2 | 84 | 0.0238 | -50 | c.574 others(69): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27388322 | AGAAGGAA others(43): Show |
A | intron_variant | MODIFIER | HG03492.hp2 HG03704.hp1 HG04115.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0015a0001c0002t0001 | a0001c0001t0001g0043 a0001c0001t0015g0013 a0001c0002t0001g0027 |
3 | 79 | 0.0380 | -50 | c.574 others(69): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27388353 | TAAGGAAG others(43): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0019 | 1 | 86 | 0.0116 | -50 | c.574 others(69): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 31103316 | CTCTACAT others(43): Show |
C | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 224 | 0.0045 | -50 | c.129 others(69): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
GALNT17_chr7_71127144_71718599 | 71316188 | GTCCTGAT others(43): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02896.hp2 HG02922.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0002t0010a0001c0002t0019 | a0001c0001t0017g0047 a0001c0002t0010g0074 a0001c0002t0019g0017 |
3 | 34 | 0.0882 | -50 | c.239 others(69): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71701808 | TATATATA others(43): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0053 | 1 | 75 | 0.0133 | -50 | c.150 others(69): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132233100 | AGAGGAGA others(43): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0030 | 1 | 181 | 0.0055 | -50 | c.107 others(71): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132233962 | CAGAGGAG others(43): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0030 | 1 | 182 | 0.0055 | -50 | c.107 others(71): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALP_chr19_56171008_56190775 | 56176048 | GCCAGCTG others(43): Show |
G | splice_donor_variant others(3): Show |
HIGH | NA18972.hp2 | a0001 | a0001c0002 | a0001c0002t0030 | a0001c0002t0030g0061 | 1 | 439 | 0.0023 | -50 | c.-44 others(60): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/6 | 1002 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GALP_chr19_56171008_56190775 | 56176092 | GCGGATCC others(43): Show |
G | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0316 | 1 | 442 | 0.0023 | -50 | c.-40 others(63): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176108 | CCGGGGTG others(43): Show |
C | intron_variant | MODIFIER | NA18954.hp2 NA19070.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0044 | 2 | 376 | 0.0053 | -50 | c.-40 others(64): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176146 | CTGCCAGC others(43): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023 a0001c0001t0003g0077 |
3 | 431 | 0.0070 | -50 | c.-40 others(65): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176187 | GAGGGGCG others(43): Show |
G | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0060 | 2 | 421 | 0.0048 | -50 | c.-40 others(65): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176248 | GCCAGCTG others(43): Show |
G | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0224 | 1 | 434 | 0.0023 | -50 | c.-40 others(65): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176258 | GCGGGGTG others(43): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG03942.hp2 NA18950.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0016 a0001c0001t0001g0037 a0001c0001t0001g0180 others(2): Show |
5 | 405 | 0.0123 | -50 | c.-40 others(65): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176459 | CGGGGTGA others(43): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00597.hp2 others(74): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0281 others(57): Show |
77 | 440 | 0.1750 | -50 | c.-40 others(65): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176543 | CGGATGCC others(43): Show |
C | intron_variant | MODIFIER | NA18994.hp1 NA19012.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 | 2 | 324 | 0.0062 | -50 | c.-40 others(65): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GAMT_chr19_1392026_1406542 | 1394634 | CCTCCCTC others(43): Show |
C | downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 400 | 0.0025 | -50 | c.*26 others(61): Show |
GAMT | ENSG00000130005.13 | transcript | ENST00000252288.8 | protein_coding | 2391 | chr19 | TogoVar | |||||||
GATAD1_chr7_92442482_92465075 | 92442868 | AGCAAAGG others(43): Show |
A | upstream_gene_variant | MODIFIER | HG01952.hp2 HG02717.hp1 HG02895.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0008 | a0001c0001t0004g0001 a0002c0002t0008g0018 a0002c0002t0008g0060 others(1): Show |
5 | 328 | 0.0152 | -50 | c.-48 others(61): Show |
GATAD1 | ENSG00000157259.8 | transcript | ENST00000287957.5 | protein_coding | 4613 | chr7 | TogoVar | |||||||
GATAD1_chr7_92442482_92465075 | 92442926 | GCAAAAGC others(43): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG01167.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0021a0002c0002t0003a0002c0002t0014others(1): Show | a0001c0001t0021g0049 a0002c0002t0003g0003 a0002c0002t0003g0053 others(2): Show |
23 | 326 | 0.0706 | -50 | c.-48 others(61): Show |
GATAD1 | ENSG00000157259.8 | transcript | ENST00000287957.5 | protein_coding | 4555 | chr7 | TogoVar | |||||||
GBE1_chr3_81484703_81766645 | 81737363 | ATATTTAT others(43): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(113): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0005a0001c0001t0018a0001c0004t0007others(11): Show | a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0005g0262 others(113): Show |
116 | 302 | 0.3841 | -50 | c.143 others(69): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GIGYF2_chr2_232692331_232865605 | 232836317 | TATATATA others(43): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0085 | 1 | 357 | 0.0028 | -50 | c.276 others(69): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GK2_chr4_79401361_79413228 | 79412367 | GCTGATCA others(43): Show |
G | upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 400 | 0.0025 | -50 | c.-42 others(61): Show |
GK2 | ENSG00000196475.6 | transcript | ENST00000358842.5 | protein_coding | 4140 | chr4 | TogoVar | |||||||
GLB1L3_chr11_134271379_134324564 | 134308450 | CACCACCA others(43): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00735.hp1 HG00735.hp2 others(61): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0168 a0001c0002t0001g0003 a0001c0002t0001g0010 others(52): Show |
64 | 420 | 0.1524 | -50 | c.962 others(67): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLCE_chr15_69155635_69277207 | 69171080 | GCAAATAA others(43): Show |
G | intron_variant | MODIFIER | HG03098.hp2 HG03209.hp1 |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0016 | a0001c0003t0006g0325 a0001c0003t0016g0326 |
2 | 340 | 0.0059 | -50 | c.-10 others(71): Show |
GLCE | ENSG00000138604.10 | transcript | ENST00000261858.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GLIS3_chr9_3819127_4305068 | 4276394 | AAGGGAAG others(43): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0009 | a0009c0009 | a0009c0009t0036 | a0009c0009t0036g0005 | 1 | 188 | 0.0053 | -50 | c.388 others(67): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4276421 | GGGGAGGG others(43): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG02055.hp1 HG03130.hp2 |
a0001a0003 | a0001c0001a0003c0025 | a0001c0001t0038a0001c0001t0039a0003c0025t0049 | a0001c0001t0038g0009 a0001c0001t0039g0008 a0003c0025t0049g0037 |
3 | 188 | 0.0160 | -50 | c.388 others(67): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
GLO1_chr6_38670925_38708145 | 38699842 | AGACCCTT others(43): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 408 | 0.0025 | -50 | c.84+ others(65): Show |
GLO1 | ENSG00000124767.7 | transcript | ENST00000373365.5 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
GLO1_chr6_38670925_38708145 | 38699902 | CAGTAGTT others(43): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0143 | 1 | 408 | 0.0025 | -50 | c.84+ others(65): Show |
GLO1 | ENSG00000124767.7 | transcript | ENST00000373365.5 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
GLRA2_chrX_14524536_14736812 | 14699820 | CCTTTGCA others(43): Show |
C | intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0229 | 1 | 230 | 0.0043 | -50 | c.108 others(69): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 8/8 | chrX | TogoVar | |||||||
GLT1D1_chr12_128848478_128989968 | 128879372 | TTTTCTTT others(43): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00609.hp1 others(30): Show |
a0001a0002 | a0001c0002a0001c0006a0001c0019others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(11): Show | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0066 others(30): Show |
33 | 279 | 0.1183 | -50 | c.217 others(67): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 1683913 | GATCGGTA others(43): Show |
G | intron_variant | MODIFIER | HG02886.hp1 NA20129.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0002t0001g0005 |
3 | 164 | 0.0183 | -50 | c.987 others(69): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 9/10 | chr6 | TogoVar | |||||||
GMPR_chr6_16233587_16300549 | 16266086 | CCTTTAAG others(43): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(220): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(206): Show |
223 | 228 | 0.9781 | -50 | c.466 others(67): Show |
GMPR | ENSG00000137198.10 | transcript | ENST00000259727.5 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GNG12_chr1_67696475_67838467 | 67710182 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 a0001c0001t0002g0159 |
2 | 271 | 0.0074 | -50 | c.-26 others(67): Show |
GNG12 | ENSG00000172380.6 | transcript | ENST00000370982.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2651333 | ACCTTCCC others(43): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG03453.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0032a0001c0001t0082 | a0001c0001t0018g0014 a0001c0001t0032g0001 a0001c0001t0082g0015 |
3 | 86 | 0.0349 | -50 | c.-13 others(69): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GON4L_chr1_155744659_155862214 | 155805673 | GTTGTAAT others(43): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 216 | 0.0046 | -50 | c.145 others(67): Show |
GON4L | ENSG00000116580.20 | transcript | ENST00000368331.6 | protein_coding | 10/31 | chr1 | TogoVar |