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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FOXN3_chr14_89151177_89422233 | 89362701 | A | ACCACCAC others(41): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02135.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0131 a0001c0001t0004g0132 |
2 | 225 | 0.0089 | 48 | c.544 others(67): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXO1_chr13_40550667_40671641 | 40564945 | G | GAGTCGGG others(41): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00673.hp2 others(45): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0007others(2): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(6): Show | a0001c0001t0001g0219 a0001c0001t0003g0091 a0002c0002t0001g0018 others(44): Show |
48 | 301 | 0.1595 | 48 | c.631 others(65): Show |
FOXO1 | ENSG00000150907.10 | transcript | ENST00000379561.6 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71435685 | A | AAGGGACG others(41): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0069 | 1 | 81 | 0.0123 | 48 | c.-16 others(69): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71435887 | C | CGGAGGGA others(41): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0015 | 1 | 94 | 0.0106 | 48 | c.-16 others(69): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
FOXP2_chr7_114409815_114698765 | 114587879 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 97 | 0.0103 | 48 | c.259 others(67): Show |
FOXP2 | ENSG00000128573.28 | transcript | ENST00000350908.9 | protein_coding | 3/16 | chr7 | TogoVar | |||||||
FOXP2_chr7_114409815_114698765 | 114612426 | C | CACACACA others(41): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02717.hp1 HG02970.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0006 | a0001c0001t0002g0151 a0001c0003t0006g0149 a0001c0003t0006g0150 |
3 | 172 | 0.0174 | 48 | c.259 others(67): Show |
FOXP2 | ENSG00000128573.28 | transcript | ENST00000350908.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
FRA10AC1_chr10_93662883_93707592 | 93693673 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 | 1 | 228 | 0.0044 | 48 | c.297 others(63): Show |
FRA10AC1 | ENSG00000148690.12 | transcript | ENST00000359204.5 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
FREM1_chr9_14732152_14915428 | 14825561 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG03139.hp1 NA19240.hp2 |
a0030a0117 | a0030c0146a0117c0221 | a0030c0146t0001a0117c0221t0002 | a0030c0146t0001g0215 a0117c0221t0002g0006 |
2 | 264 | 0.0076 | 48 | c.188 others(65): Show |
FREM1 | ENSG00000164946.20 | transcript | ENST00000380880.4 | protein_coding | 10/36 | chr9 | TogoVar | |||||||
FREM1_chr9_14732152_14915428 | 14860891 | A | ATATACGT others(41): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0089 | a0089c0164 | a0089c0164t0004 | a0089c0164t0004g0091 | 1 | 334 | 0.0030 | 48 | c.330 others(65): Show |
FREM1 | ENSG00000164946.20 | transcript | ENST00000380880.4 | protein_coding | 3/36 | chr9 | TogoVar | |||||||
FRMD4A_chr10_13638706_14335924 | 13750081 | A | AAAGAAAG others(41): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0102 | 1 | 121 | 0.0083 | 48 | c.465 others(65): Show |
FRMD4A | ENSG00000151474.23 | transcript | ENST00000357447.7 | protein_coding | 8/24 | chr10 | TogoVar | |||||||
FRMD4A_chr10_13638706_14335924 | 13750089 | A | AAAGAAAG others(41): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0131 | 1 | 108 | 0.0093 | 48 | c.465 others(65): Show |
FRMD4A | ENSG00000151474.23 | transcript | ENST00000357447.7 | protein_coding | 8/24 | chr10 | TogoVar | |||||||
FRMD4A_chr10_13638706_14335924 | 13804523 | T | TTTTCTTT others(41): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0052 a0001c0001t0005g0123 |
2 | 76 | 0.0263 | 48 | c.206 others(65): Show |
FRMD4A | ENSG00000151474.23 | transcript | ENST00000357447.7 | protein_coding | 4/24 | chr10 | TogoVar | |||||||
FRMD6_chr14_51646910_51735727 | 51721745 | A | AGGAGGGA others(41): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02723.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0004a0001c0013 | a0001c0004t0001a0001c0013t0001 | a0001c0004t0001g0141 a0001c0004t0001g0142 a0001c0004t0001g0203 others(1): Show |
4 | 376 | 0.0106 | 48 | c.136 others(65): Show |
FRMD6 | ENSG00000139926.16 | transcript | ENST00000344768.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FRMPD4_chrX_12133473_12729523 | 12193771 | A | AAAGAAAG others(41): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0155 | 1 | 82 | 0.0122 | 48 | c.41+ others(65): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FRS2_chr12_69465388_69584793 | 69485097 | A | ACACACAC others(41): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0206 | 1 | 324 | 0.0031 | 48 | c.-26 others(69): Show |
FRS2 | ENSG00000166225.9 | transcript | ENST00000549921.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FRYL_chr4_48492357_48785279 | 48645124 | T | TTATATAT others(41): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0020 | a0020c0028 | a0020c0028t0001 | a0020c0028t0001g0192 | 1 | 10 | 0.1000 | 48 | c.-80 others(67): Show |
FRYL | ENSG00000075539.15 | transcript | ENST00000358350.9 | protein_coding | 3/63 | chr4 | TogoVar | |||||||
FRY_chr13_32026774_32304125 | 32171918 | G | GTGTGGAT others(41): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01074.hp2 others(15): Show |
a0001a0002a0005others(1): Show | a0001c0009a0001c0023a0002c0012others(3): Show | a0001c0009t0003a0001c0009t0004a0001c0009t0005others(14): Show | a0001c0009t0003g0152 a0001c0009t0004g0182 a0001c0009t0005g0093 others(15): Show |
18 | 234 | 0.0769 | 48 | c.215 others(65): Show |
FRY | ENSG00000073910.23 | transcript | ENST00000542859.6 | protein_coding | 18/60 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FSCN2_chr17_81523377_81542130 | 81531318 | A | ATGATGGT others(41): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01074.hp2 HG01934.hp1 others(30): Show |
a0001a0007 | a0001c0002a0001c0010a0001c0011others(1): Show | a0001c0002t0002a0001c0010t0002a0001c0011t0002others(1): Show | a0001c0002t0002g0005 a0001c0002t0002g0012 a0001c0002t0002g0036 others(14): Show |
33 | 371 | 0.0889 | 48 | c.826 others(65): Show |
FSCN2 | ENSG00000186765.12 | transcript | ENST00000417245.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FSHR_chr2_48957157_49159515 | 49021863 | C | CTCTCTCT others(41): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 166 | 0.0060 | 48 | c.225 others(65): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 2/9 | chr2 | TogoVar | |||||||
FSTL1_chr3_120387293_120455992 | 120413800 | C | CCCTCCCC others(41): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 252 | 0.0040 | 48 | c.169 others(65): Show |
FSTL1 | ENSG00000163430.13 | transcript | ENST00000295633.8 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
FSTL1_chr3_120387293_120455992 | 120413800 | C | CCTCCCCC others(41): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 252 | 0.0040 | 48 | c.169 others(65): Show |
FSTL1 | ENSG00000163430.13 | transcript | ENST00000295633.8 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
FSTL4_chr5_133191455_133617541 | 133375291 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0097 | 1 | 66 | 0.0152 | 48 | c.409 others(67): Show |
FSTL4 | ENSG00000053108.18 | transcript | ENST00000265342.12 | protein_coding | 4/15 | chr5 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 161640766 | C | CCCAATTT others(41): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02257.hp2 HG02280.hp1 others(12): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0047 a0001c0001t0001g0084 a0001c0001t0001g0091 others(12): Show |
15 | 140 | 0.1071 | 48 | c.894 others(67): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 161779821 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0061 | 1 | 101 | 0.0099 | 48 | c.410 others(65): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 4/15 | chr4 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46134395 | T | TAGGGTCA others(41): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
a0001 | a0001c0002a0001c0026 | a0001c0002t0001a0001c0026t0001 | a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0190 others(1): Show |
4 | 147 | 0.0272 | 48 | c.*25 others(59): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 2383 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46134491 | C | CAGGGTGA others(41): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 a0001c0001t0002g0128 |
2 | 211 | 0.0095 | 48 | c.*24 others(59): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 2287 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46134545 | G | GAGGGTCA others(41): Show |
downstream_gene_variant | MODIFIER | NA18984.hp1 NA18990.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0004a0002c0005t0001 | a0001c0001t0004g0205 a0002c0005t0001g0030 |
2 | 111 | 0.0180 | 48 | c.*24 others(59): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 2233 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46134633 | G | GTCAGGTT others(41): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 HG03453.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0175 a0001c0002t0001g0133 |
2 | 198 | 0.0101 | 48 | c.*23 others(59): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 2145 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46134665 | T | TAGGGTCA others(41): Show |
downstream_gene_variant | MODIFIER | HG04115.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 a0001c0001t0002g0147 |
2 | 120 | 0.0167 | 48 | c.*23 others(59): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 2113 | chr21 | TogoVar | |||||||
FTO_chr16_53699156_54126941 | 54122086 | G | GGAGCCCC others(41): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0013 a0001c0001t0022g0145 |
2 | 127 | 0.0157 | 48 | c.*10 others(61): Show |
FTO | ENSG00000140718.22 | transcript | ENST00000471389.6 | protein_coding | 146 | chr16 | TogoVar | |||||||
FUT8_chr14_65407730_65749121 | 65692467 | A | ACCTCCCT others(41): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 362 | 0.0028 | 48 | c.835 others(67): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FYB2_chr1_56713789_56824404 | 56757687 | C | CTTCCTTC others(41): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 218 | 0.0046 | 48 | c.109 others(67): Show |
FYB2 | ENSG00000187889.13 | transcript | ENST00000343433.7 | protein_coding | 6/19 | chr1 | TogoVar | |||||||
FYB2_chr1_56713789_56824404 | 56757687 | C | CTTCCTTC others(41): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 218 | 0.0046 | 48 | c.109 others(67): Show |
FYB2 | ENSG00000187889.13 | transcript | ENST00000343433.7 | protein_coding | 6/19 | chr1 | TogoVar | |||||||
FYB2_chr1_56713789_56824404 | 56757687 | C | CTTCCTTC others(41): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00741.hp1 others(4): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0095 a0001c0001t0001g0132 a0001c0001t0002g0097 others(4): Show |
7 | 224 | 0.0313 | 48 | c.109 others(67): Show |
FYB2 | ENSG00000187889.13 | transcript | ENST00000343433.7 | protein_coding | 6/19 | chr1 | TogoVar | |||||||
FYB2_chr1_56713789_56824404 | 56757687 | C | CTTCCTTC others(41): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01358.hp1 HG02040.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0091 others(5): Show |
8 | 225 | 0.0356 | 48 | c.109 others(67): Show |
FYB2 | ENSG00000187889.13 | transcript | ENST00000343433.7 | protein_coding | 6/19 | chr1 | TogoVar | |||||||
FYB2_chr1_56713789_56824404 | 56757687 | C | CTTCCTTC others(41): Show |
intron_variant | MODIFIER | HG00438.hp1 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0200 a0001c0001t0002g0056 |
2 | 219 | 0.0091 | 48 | c.109 others(67): Show |
FYB2 | ENSG00000187889.13 | transcript | ENST00000343433.7 | protein_coding | 6/19 | chr1 | TogoVar | |||||||
FYB2_chr1_56713789_56824404 | 56757687 | C | CTTCCTTC others(41): Show |
intron_variant | MODIFIER | HG02155.hp1 NA18747.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0205 a0001c0002t0001g0230 |
2 | 219 | 0.0091 | 48 | c.109 others(67): Show |
FYB2 | ENSG00000187889.13 | transcript | ENST00000343433.7 | protein_coding | 6/19 | chr1 | TogoVar | |||||||
FYN_chr6_111655332_111878452 | 111773476 | C | CCAGAGGG others(41): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG00733.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 others(18): Show |
21 | 230 | 0.0913 | 48 | c.-12 others(65): Show |
FYN | ENSG00000010810.18 | transcript | ENST00000354650.7 | protein_coding | 3/13 | chr6 | TogoVar | |||||||
FZD6_chr8_103293898_103337866 | 103298773 | C | CCCGCCGC others(41): Show |
upstream_gene_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0169 | 1 | 23 | 0.0435 | 48 | c.-37 others(57): Show |
FZD6 | ENSG00000164930.12 | transcript | ENST00000358755.5 | protein_coding | 124 | chr8 | TogoVar | |||||||
G3BP2_chr4_75637786_75678411 | 75643295 | T | TTATATAT others(41): Show |
3_prime_UTR_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0230 | 1 | 133 | 0.0075 | 48 | c.*21 others(59): Show |
G3BP2 | ENSG00000138757.15 | transcript | ENST00000359707.9 | protein_coding | 12/12 | 2134 | chr4 | TogoVar | ||||||
GAB1_chr4_143331876_143479565 | 143373864 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 138 | 0.0072 | 48 | c.72+ others(65): Show |
GAB1 | ENSG00000109458.10 | transcript | ENST00000262994.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GABBR2_chr9_98283109_98713935 | 98463609 | C | CTCTCGCT others(41): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0008 | a0002c0008t0005 | a0002c0008t0005g0124 | 1 | 157 | 0.0064 | 48 | c.100 others(67): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 6/18 | chr9 | TogoVar | |||||||
GABRA2_chr4_46238548_46395128 | 46273468 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0012 | 1 | 122 | 0.0082 | 48 | c.857 others(67): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 8/9 | chr4 | TogoVar | |||||||
GABRA2_chr4_46238548_46395128 | 46273508 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0069 | 1 | 256 | 0.0039 | 48 | c.857 others(67): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 8/9 | chr4 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2035754 | C | CGGGACCC others(41): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0091 | 1 | 361 | 0.0028 | 48 | c.*54 others(59): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 4997 | chr1 | TogoVar | |||||||
GADL1_chr3_30721197_30899661 | 30740957 | T | TTATTATA others(41): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 253 | 0.0040 | 48 | c.139 others(69): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 14/14 | chr3 | TogoVar | |||||||
GAK_chr4_844277_937316 | 926055 | A | AAGGGGGT others(41): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 a0001c0001t0002g0056 |
2 | 388 | 0.0052 | 48 | c.145 others(65): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 926118 | G | GGACAGTG others(41): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0023 | 1 | 387 | 0.0026 | 48 | c.145 others(65): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GALK2_chr15_49165247_49336882 | 49299735 | T | TTTCTTTC others(41): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0189 | 1 | 230 | 0.0043 | 48 | c.967 others(65): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38686258 | T | TTCTTTCT others(41): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01167.hp1 HG01516.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0036 a0001c0001t0002g0022 a0001c0001t0002g0027 others(6): Show |
9 | 287 | 0.0314 | 48 | c.553 others(65): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |