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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GAL3ST2_chr2_241771822_241809287 | 241807696 | CTCCCCCC others(28): Show |
C | downstream_gene_variant | MODIFIER | HG02027.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 a0001c0001t0001g0186 |
2 | 308 | 0.0065 | -35 | c.*35 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3410 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807735 | CTCCCCCC others(28): Show |
C | downstream_gene_variant | MODIFIER | HG03195.hp2 NA19063.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0009 a0002c0002t0002g0137 |
2 | 312 | 0.0064 | -35 | c.*35 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3449 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807768 | CCTTCCCT others(28): Show |
C | downstream_gene_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 1 | 307 | 0.0033 | -35 | c.*36 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3482 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807977 | CTCCCCCC others(28): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp2 HG03098.hp1 HG04115.hp2 others(3): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0020 a0002c0002t0001g0003 others(3): Show |
6 | 312 | 0.0192 | -35 | c.*38 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3691 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241808025 | CAGCCCAG others(28): Show |
C | downstream_gene_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0069 | 1 | 309 | 0.0032 | -35 | c.*38 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3739 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241808040 | TGCAGGCC others(28): Show |
T | downstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 274 | 0.0036 | -35 | c.*38 others(46): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3754 | chr2 | TogoVar | |||||||
GALNS_chr16_88808734_88861947 | 88831258 | CCGAGCAC others(28): Show |
C | intron_variant | MODIFIER | NA18991.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0308 | 1 | 402 | 0.0025 | -35 | c.100 others(52): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 9/13 | chr16 | TogoVar | |||||||
GALNS_chr16_88808734_88861947 | 88831599 | GGGGAGGA others(28): Show |
G | intron_variant | MODIFIER | NA18991.hp2 NA19068.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0001 | a0001c0002t0002g0119 a0002c0003t0001g0308 |
2 | 402 | 0.0050 | -35 | c.100 others(52): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 9/13 | chr16 | TogoVar | |||||||
GALNTL6_chr4_171808404_173046559 | 172206779 | TTTGTTTT others(28): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0038 | 1 | 40 | 0.0250 | -35 | c.139 others(54): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GARIN5B_chr19_55349908_55368260 | 55361647 | CCAGCCTC others(28): Show |
C | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 354 | 0.0028 | -35 | c.565 others(50): Show |
GARIN5B | ENSG00000180043.11 | transcript | ENST00000424985.3 | protein_coding | 3/10 | chr19 | TogoVar | |||||||
GAS8_chr16_90017680_90049960 | 90046481 | CTGGGCTT others(28): Show |
C | downstream_gene_variant | MODIFIER | HG01928.hp2 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0194 | 1 | 388 | 0.0026 | -35 | c.*31 others(46): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 1522 | chr16 | TogoVar | |||||||
GAS8_chr16_90017680_90049960 | 90049446 | CCCATGGG others(28): Show |
C | downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0016 | a0001c0016t0015 | a0001c0016t0015g0312 | 1 | 388 | 0.0026 | -35 | c.*61 others(46): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 4487 | chr16 | TogoVar | |||||||
GCFC2_chr2_75657705_75715915 | 75672177 | ATTTATAA others(28): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG00735.hp2 others(88): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0005others(6): Show | a0001c0001t0001a0001c0001t0012a0002c0002t0003others(13): Show | a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0012g0200 others(59): Show |
91 | 105 | 0.8667 | -35 | c.189 others(52): Show |
GCFC2 | ENSG00000005436.14 | transcript | ENST00000321027.8 | protein_coding | 13/16 | chr2 | TogoVar | |||||||
GCNT3_chr15_59606783_59627723 | 59611070 | TCCCCCTC others(28): Show |
T | upstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0001 | 1 | 423 | 0.0024 | -35 | c.-11 others(46): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 712 | chr15 | TogoVar | |||||||
GCNT4_chr5_75020346_75057558 | 75027226 | TTTTACTT others(28): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18972.hp1 | a0002 | a0002c0002 | a0002c0002t0062 | a0002c0002t0062g0259 | 1 | 380 | 0.0026 | -35 | c.*14 others(46): Show |
GCNT4 | ENSG00000176928.7 | transcript | ENST00000652361.2 | protein_coding | 4/4 | 1415 | chr5 | TogoVar | ||||||
GCNT4_chr5_75020346_75057558 | 75034898 | GCACCCCA others(28): Show |
G | intron_variant | MODIFIER | HG01515.hp1 HG01981.hp2 HG02280.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0009a0001c0001t0010others(1): Show | a0001c0001t0003g0009 a0001c0001t0003g0165 a0001c0001t0003g0173 others(3): Show |
10 | 333 | 0.0300 | -35 | c.-1- others(50): Show |
GCNT4 | ENSG00000176928.7 | transcript | ENST00000652361.2 | protein_coding | 3/3 | chr5 | TogoVar | |||||||
GCNT4_chr5_75020346_75057558 | 75035097 | CGCATTCA others(28): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01256.hp1 HG01261.hp2 others(13): Show |
a0002 | a0002c0002 | a0002c0002t0018a0002c0002t0021a0002c0002t0023others(4): Show | a0002c0002t0018g0068 a0002c0002t0018g0108 a0002c0002t0021g0054 others(10): Show |
16 | 380 | 0.0421 | -35 | c.-1- others(50): Show |
GCNT4 | ENSG00000176928.7 | transcript | ENST00000652361.2 | protein_coding | 3/3 | chr5 | TogoVar | |||||||
GCSAML_chr1_247544134_247582690 | 247578211 | ACTCAGAA others(28): Show |
A | downstream_gene_variant | MODIFIER | HG02809.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0034 | 2 | 410 | 0.0049 | -35 | c.*38 others(46): Show |
GCSAML | ENSG00000169224.13 | transcript | ENST00000366488.5 | protein_coding | 522 | chr1 | TogoVar | |||||||
GDI2_chr10_5760223_5818434 | 5794189 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0130 | 1 | 310 | 0.0032 | -35 | c.388 others(50): Show |
GDI2 | ENSG00000057608.17 | transcript | ENST00000380191.9 | protein_coding | 4/10 | chr10 | TogoVar | |||||||
GET4_chr7_871554_901436 | 893055 | TGGGCGTG others(28): Show |
T | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 382 | 0.0026 | -35 | c.746 others(50): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GET4_chr7_871554_901436 | 893198 | CGGTGGTG others(28): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01168.hp1 HG01169.hp2 others(5): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0002others(1): Show | a0001c0001t0001g0038 a0001c0001t0001g0166 a0001c0001t0002g0048 others(4): Show |
8 | 382 | 0.0209 | -35 | c.747 others(50): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GET4_chr7_871554_901436 | 893233 | TGGTGGTG others(28): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG02717.hp2 HG02735.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0011 | a0001c0002t0001a0001c0003t0006a0001c0011t0002 | a0001c0002t0001g0089 a0001c0003t0006g0044 a0001c0011t0002g0049 |
4 | 373 | 0.0107 | -35 | c.747 others(50): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GET4_chr7_871554_901436 | 893332 | CGGGCGTG others(28): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG01934.hp1 HG01975.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0213 a0001c0001t0001g0220 |
4 | 378 | 0.0106 | -35 | c.747 others(50): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GET4_chr7_871554_901436 | 893510 | TTGCAGGT others(28): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 382 | 0.0026 | -35 | c.747 others(50): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24611514 | CCTATCTA others(28): Show |
C | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 399 | 0.0025 | -35 | c.164 others(50): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GH2_chr17_63875215_63886944 | 63875565 | TTTCTTTC others(28): Show |
T | downstream_gene_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | -35 | c.*47 others(46): Show |
GH2 | ENSG00000136487.18 | transcript | ENST00000423893.7 | protein_coding | 4649 | chr17 | TogoVar | |||||||
GHR_chr5_42418439_42726878 | 42579120 | TAGATAGA others(28): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02145.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0005a0001c0008t0007a0002c0002t0006others(1): Show | a0001c0001t0005g0080 a0001c0001t0005g0082 a0001c0008t0007g0083 others(4): Show |
7 | 204 | 0.0343 | -35 | c.70+ others(52): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42579140 | TGATAGAT others(28): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0158 | 1 | 188 | 0.0053 | -35 | c.70+ others(52): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
GIMAP6_chr7_150620375_150637385 | 150634931 | ATGGTTTC others(28): Show |
A | upstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 | 1 | 444 | 0.0023 | -35 | c.-27 others(46): Show |
GIMAP6 | ENSG00000133561.15 | transcript | ENST00000328902.9 | protein_coding | 2547 | chr7 | TogoVar | |||||||
GLI3_chr7_41955949_42242209 | 41968686 | GAAGAAAG others(28): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0007 | a0007c0020 | a0007c0020t0042 | a0007c0020t0042g0073 | 1 | 141 | 0.0071 | -35 | c.210 others(52): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 13/14 | chr7 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3953763 | CTCTCTCT others(28): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp2 |
a0007a0012 | a0007c0007a0012c0028 | a0007c0007t0006a0012c0028t0006 | a0007c0007t0006g0019 a0012c0028t0006g0077 |
2 | 126 | 0.0159 | -35 | c.171 others(56): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4276401 | GGGGAGGG others(28): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(129): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0010a0001c0012others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(90): Show | a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0121 others(129): Show |
132 | 188 | 0.7021 | -35 | c.388 others(52): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
GLT1D1_chr12_128848478_128989968 | 128971776 | TCCTCCCT others(28): Show |
T | intron_variant | MODIFIER | HG02074.hp2 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0067 | 1 | 318 | 0.0031 | -35 | c.880 others(54): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 1652669 | TATAATAT others(28): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01952.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0010 a0001c0001t0001g0108 a0001c0001t0001g0120 others(7): Show |
10 | 129 | 0.0775 | -35 | c.988 others(54): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 9/10 | chr6 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63585132 | ACAGGAAC others(28): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(81): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0015others(1): Show | a0001c0002t0003a0001c0002t0014a0001c0003t0002others(6): Show | a0001c0002t0003g0018 a0001c0002t0014g0056 a0001c0002t0014g0075 others(75): Show |
84 | 328 | 0.2561 | -35 | c.*49 others(46): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2472 | chr20 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63607917 | TCACCTCC others(28): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00642.hp1 others(69): Show |
a0001 | a0001c0001a0001c0008a0001c0011 | a0001c0001t0001a0001c0001t0011a0001c0001t0016others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0025 others(61): Show |
72 | 187 | 0.3850 | -35 | c.132 others(52): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63607945 | CTGACCCA others(28): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG03130.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0015 | a0001c0001t0009g0205 a0001c0001t0009g0221 a0001c0001t0015g0222 |
3 | 326 | 0.0092 | -35 | c.132 others(52): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63608799 | CCACCTCC others(28): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00621.hp2 others(90): Show |
a0001 | a0001c0001a0001c0008a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0026 others(83): Show |
93 | 316 | 0.2943 | -35 | c.132 others(52): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63608992 | CCCCTCTG others(28): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0085 | 1 | 328 | 0.0030 | -35 | c.132 others(52): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63609752 | ACCCCACC others(28): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0085 | 1 | 328 | 0.0030 | -35 | c.132 others(52): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GML_chr8_142829801_142851851 | 142832427 | ATCCAGAG others(28): Show |
A | upstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 420 | 0.0024 | -35 | c.-24 others(46): Show |
GML | ENSG00000104499.7 | transcript | ENST00000220940.2 | protein_coding | 2373 | chr8 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77641100 | GGAAGGAA others(28): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 162 | 0.0062 | -35 | c.124 others(52): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
GNAL_chr18_11684264_11890685 | 11769054 | AATATATA others(28): Show |
A | intron_variant | MODIFIER | HG02738.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0085a0001c0001t0109 | a0001c0001t0085g0111 a0001c0001t0109g0090 |
2 | 246 | 0.0081 | -35 | c.624 others(54): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | chr18 | TogoVar | |||||||
GNAL_chr18_11747085_11890685 | 11769054 | AATATATA others(28): Show |
A | intron_variant | MODIFIER | HG02738.hp1 HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0064a0001c0001t0084 | a0001c0001t0012g0212 a0001c0001t0064g0211 a0001c0001t0084g0213 |
3 | 282 | 0.0106 | -35 | c.393 others(54): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | chr18 | TogoVar | |||||||
GNAT3_chr7_80453635_80517064 | 80493624 | TTCCTCCT others(28): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG01891.hp2 HG02145.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0187 a0001c0001t0001g0223 a0001c0001t0003g0031 others(6): Show |
9 | 332 | 0.0271 | -35 | c.161 others(50): Show |
GNAT3 | ENSG00000214415.4 | transcript | ENST00000398291.4 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
GNAT3_chr7_80453635_80517064 | 80493683 | CCTCTTTC others(28): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01167.hp2 HG01169.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0067 a0001c0001t0001g0145 others(5): Show |
9 | 332 | 0.0271 | -35 | c.161 others(50): Show |
GNAT3 | ENSG00000214415.4 | transcript | ENST00000398291.4 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
GNG11_chr7_93916735_93933610 | 93930205 | CCTTCCTT others(28): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(227): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(29): Show |
230 | 417 | 0.5516 | -35 | c.*39 others(46): Show |
GNG11 | ENSG00000127920.6 | transcript | ENST00000248564.6 | protein_coding | 1596 | chr7 | TogoVar | |||||||
GOLGA6L1_chr15_23122066_23141822 | 23136649 | GGGAGGTG others(28): Show |
G | frameshift_variant | HIGH | HG03130.hp2 | a0037 | a0037c0057 | a0037c0057t0009 | a0037c0057t0009g0121 | 1 | 204 | 0.0049 | -35 | c.48_ others(40): Show |
p.Thr others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 173/3822 | 48/2007 | 16/668 | chr15 | TogoVar | |||
GOLGA6L7_chr15_28836832_28853644 | 28850684 | GGGGAGAG others(28): Show |
G | upstream_gene_variant | MODIFIER | HG02486.hp2 HG02622.hp1 |
a0014 | a0014c0015 | a0014c0015t0002 | a0014c0015t0002g0057 a0014c0015t0002g0058 |
2 | 367 | 0.0054 | -35 | c.-21 others(46): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 2041 | chr15 | TogoVar | |||||||
GOLGA8A_chr15_34374068_34442808 | 34420824 | CCACAGAT others(28): Show |
C | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 244 | 0.0041 | -35 | c.-11 others(58): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 2/24 | chr15 | TogoVar |