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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FREM2_chr13_38682077_38892131 | 38813493 | TCTCTCTC others(18): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01346.hp2 HG01993.hp2 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0008others(5): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0004others(6): Show | a0001c0001t0001g0178 a0001c0002t0003g0138 a0001c0002t0004g0233 others(6): Show |
9 | 260 | 0.0346 | -25 | c.601 others(46): Show |
FREM2 | ENSG00000150893.11 | transcript | ENST00000280481.9 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FRMD1_chr6_168048095_168084212 | 168061318 | GGAGACCA others(18): Show |
G | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 400 | 0.0025 | -25 | c.104 others(42): Show |
FRMD1 | ENSG00000153303.18 | transcript | ENST00000283309.11 | protein_coding | 8/10 | chr6 | TogoVar | |||||||
FRMD4A_chr10_13638706_14335924 | 13713835 | TGTAATAT others(18): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(93): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0027 others(93): Show |
96 | 134 | 0.7164 | -25 | c.760 others(42): Show |
FRMD4A | ENSG00000151474.23 | transcript | ENST00000357447.7 | protein_coding | 12/24 | chr10 | TogoVar | |||||||
FRMD4A_chr10_13638706_14335924 | 13996986 | GCAAAACA others(18): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00738.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0028 others(41): Show |
44 | 53 | 0.8302 | -25 | c.46- others(44): Show |
FRMD4A | ENSG00000151474.23 | transcript | ENST00000357447.7 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
FRMD4A_chr10_13638706_14335924 | 14048807 | AAATAAAA others(18): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02809.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0012 | a0001c0001t0003g0127 a0001c0001t0005g0124 a0001c0001t0012g0069 |
3 | 124 | 0.0242 | -25 | c.46- others(44): Show |
FRMD4A | ENSG00000151474.23 | transcript | ENST00000357447.7 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
FRMD4A_chr10_13638706_14335924 | 14048824 | TTAGAATA others(18): Show |
T | intron_variant | MODIFIER | HG02148.hp2 HG03041.hp2 HG03540.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0007 | a0001c0001t0002g0054 a0001c0001t0003g0079 a0001c0002t0007g0048 |
3 | 27 | 0.1111 | -25 | c.46- others(44): Show |
FRMD4A | ENSG00000151474.23 | transcript | ENST00000357447.7 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
FRMD4A_chr10_13638706_14335924 | 14048882 | GAATAGAA others(18): Show |
G | intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0035 | 1 | 134 | 0.0075 | -25 | c.46- others(44): Show |
FRMD4A | ENSG00000151474.23 | transcript | ENST00000357447.7 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
FRMD4A_chr10_13638706_14335924 | 14218955 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG01069.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0115 others(25): Show |
28 | 35 | 0.8000 | -25 | c.45+ others(44): Show |
FRMD4A | ENSG00000151474.23 | transcript | ENST00000357447.7 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
FRMD5_chr15_43865764_44200271 | 43999924 | TATATATA others(18): Show |
T | intron_variant | MODIFIER | HG01981.hp1 HG02258.hp2 NA20300.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0005 | a0001c0001t0001g0112 a0001c0003t0005g0142 a0001c0003t0005g0146 |
3 | 141 | 0.0213 | -25 | c.103 others(44): Show |
FRMD5 | ENSG00000171877.21 | transcript | ENST00000417257.6 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
FRMPD4_chrX_12133473_12729523 | 12560742 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0017 | 1 | 18 | 0.0556 | -25 | c.159 others(44): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FRY_chr13_32026774_32304125 | 32286747 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(29): Show | a0001c0001t0001g0048 a0001c0001t0002g0018 a0001c0001t0002g0189 others(38): Show |
41 | 75 | 0.5467 | -25 | c.847 others(44): Show |
FRY | ENSG00000073910.23 | transcript | ENST00000542859.6 | protein_coding | 58/60 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FSHR_chr2_48957157_49159515 | 49127873 | TCTTCTTC others(18): Show |
T | intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0276 | 1 | 348 | 0.0029 | -25 | c.152 others(44): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 161686324 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG01169.hp1 HG01346.hp2 HG01361.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0003a0002c0004t0002 | a0001c0001t0001g0048 a0001c0001t0001g0063 a0001c0002t0003g0110 others(1): Show |
4 | 139 | 0.0288 | -25 | c.728 others(44): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 6/15 | chr4 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 161686326 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01123.hp1 HG01243.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0037 a0001c0001t0002g0016 a0001c0001t0004g0122 others(3): Show |
6 | 137 | 0.0438 | -25 | c.728 others(44): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 6/15 | chr4 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 161779753 | GTAAAGTT others(18): Show |
G | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0052 | 1 | 86 | 0.0116 | -25 | c.410 others(42): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 4/15 | chr4 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 162146661 | GTCCCTTC others(18): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 others(24): Show |
27 | 76 | 0.3553 | -25 | c.-17 others(44): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 1/15 | chr4 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46135434 | AAATGTCC others(18): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02559.hp2 HG02886.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0006 | a0001c0001t0006g0082 a0001c0001t0006g0083 a0001c0001t0006g0111 others(4): Show |
7 | 228 | 0.0307 | -25 | c.*15 others(36): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 1344 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46135590 | GGTCCCAA others(18): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01517.hp1 |
a0004 | a0004c0007 | a0004c0007t0007 | a0004c0007t0007g0017 a0004c0007t0007g0063 a0004c0007t0007g0079 |
3 | 174 | 0.0172 | -25 | c.*13 others(36): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 1188 | chr21 | TogoVar | |||||||
FTO_chr16_53699156_54126941 | 53760227 | TGTGTGTG others(18): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG02257.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0017others(6): Show | a0001c0001t0005g0015 a0001c0001t0006g0142 a0001c0001t0017g0022 others(6): Show |
9 | 137 | 0.0657 | -25 | c.46- others(42): Show |
FTO | ENSG00000140718.22 | transcript | ENST00000471389.6 | protein_coding | 1/8 | chr16 | TogoVar | |||||||
FTO_chr16_53699156_54126941 | 53760229 | TGTGTGTG others(18): Show |
T | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0019 | 1 | 146 | 0.0068 | -25 | c.46- others(42): Show |
FTO | ENSG00000140718.22 | transcript | ENST00000471389.6 | protein_coding | 1/8 | chr16 | TogoVar | |||||||
FTO_chr16_53699156_54126941 | 53760231 | TGTGTGTG others(18): Show |
T | intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 188 | 0.0053 | -25 | c.46- others(42): Show |
FTO | ENSG00000140718.22 | transcript | ENST00000471389.6 | protein_coding | 1/8 | chr16 | TogoVar | |||||||
FTO_chr16_53699156_54126941 | 53760235 | TGTGTGTG others(18): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0044 | 1 | 186 | 0.0054 | -25 | c.46- others(42): Show |
FTO | ENSG00000140718.22 | transcript | ENST00000471389.6 | protein_coding | 1/8 | chr16 | TogoVar | |||||||
FTO_chr16_53699156_54126941 | 54065098 | CATTTTAT others(18): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG00735.hp2 others(19): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(13): Show | a0001c0001t0001g0031 a0001c0001t0001g0115 a0001c0001t0001g0116 others(19): Show |
22 | 56 | 0.3929 | -25 | c.136 others(46): Show |
FTO | ENSG00000140718.22 | transcript | ENST00000471389.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FUBP3_chr9_130574577_130643352 | 130589687 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0322 | 1 | 376 | 0.0027 | -25 | c.85- others(40): Show |
FUBP3 | ENSG00000107164.17 | transcript | ENST00000319725.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FUT10_chr8_33365824_33478146 | 33431547 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02647.hp1 HG02717.hp2 others(6): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0005t0001others(2): Show | a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 others(6): Show |
9 | 10 | 0.9000 | -25 | c.376 others(44): Show |
FUT10 | ENSG00000172728.16 | transcript | ENST00000327671.10 | protein_coding | 3/4 | chr8 | TogoVar | |||||||
FUT8_chr14_65407730_65749121 | 65576696 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp1 HG01106.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104 a0001c0002t0001g0290 a0001c0002t0001g0310 others(9): Show |
12 | 16 | 0.7500 | -25 | c.203 others(44): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FUT9_chr6_96010974_96220612 | 96159264 | TGAATCAA others(18): Show |
T | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0126 | 1 | 318 | 0.0031 | -25 | c.-8- others(42): Show |
FUT9 | ENSG00000172461.11 | transcript | ENST00000302103.6 | protein_coding | 2/2 | chr6 | TogoVar | |||||||
FUZ_chr19_49801866_49818292 | 49801909 | CCCTGCCA others(18): Show |
C | downstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | -25 | c.*52 others(36): Show |
FUZ | ENSG00000010361.14 | transcript | ENST00000313777.9 | protein_coding | 4956 | chr19 | TogoVar | |||||||
FXYD4_chr10_43366636_43381335 | 43380694 | TAAAACAA others(18): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 424 | 0.0024 | -25 | c.*45 others(36): Show |
FXYD4 | ENSG00000150201.15 | transcript | ENST00000476166.6 | protein_coding | 4360 | chr10 | TogoVar | |||||||
FYB2_chr1_56713789_56824404 | 56757730 | CTTTCATT others(18): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG02129.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0265 a0003c0005t0001g0293 |
2 | 378 | 0.0053 | -25 | c.109 others(42): Show |
FYB2 | ENSG00000187889.13 | transcript | ENST00000343433.7 | protein_coding | 6/19 | chr1 | TogoVar | |||||||
FYN_chr6_111655332_111878452 | 111728429 | ATTTCCAT others(18): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG00733.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0111 a0001c0001t0001g0173 a0001c0001t0001g0177 others(21): Show |
24 | 232 | 0.1034 | -25 | c.-11 others(42): Show |
FYN | ENSG00000010810.18 | transcript | ENST00000354650.7 | protein_coding | 3/13 | chr6 | TogoVar | |||||||
GAA_chr17_80096581_80124881 | 80097900 | AAAAAGAA others(18): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01070.hp1 HG01071.hp2 others(3): Show |
a0001a0003 | a0001c0002a0001c0004a0003c0003 | a0001c0002t0007a0001c0004t0003a0003c0003t0004 | a0001c0002t0007g0002 a0001c0002t0007g0062 a0001c0004t0003g0112 others(1): Show |
6 | 44 | 0.1364 | -25 | c.-40 others(36): Show |
GAA | ENSG00000171298.14 | transcript | ENST00000302262.8 | protein_coding | 3680 | chr17 | TogoVar | |||||||
GAB1_chr4_143331876_143479565 | 143334221 | ATTTCTTT others(18): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00673.hp2 HG01106.hp1 others(28): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0186 others(28): Show |
31 | 58 | 0.5345 | -25 | c.-29 others(36): Show |
GAB1 | ENSG00000109458.10 | transcript | ENST00000262994.9 | protein_coding | 2654 | chr4 | TogoVar | |||||||
GAB2_chr11_78210293_78422820 | 78402286 | AAGGAAGC others(18): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG02055.hp1 HG02055.hp2 others(24): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0046a0001c0002t0009a0001c0002t0055others(10): Show | a0001c0001t0046g0116 a0001c0002t0009g0135 a0001c0002t0009g0136 others(24): Show |
27 | 286 | 0.0944 | -25 | c.75+ others(42): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
GABARAP_chr17_7235008_7247449 | 7243193 | GCAGCGCC others(18): Show |
G | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02630.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 386 | 0.0155 | -25 | c.-88 others(34): Show |
GABARAP | ENSG00000170296.10 | transcript | ENST00000302386.10 | protein_coding | 745 | chr17 | TogoVar | |||||||
GABPB1_chr15_50270389_50360198 | 50337104 | TATATATA others(18): Show |
T | intron_variant | MODIFIER | HG03831.hp1 NA18972.hp1 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0130 a0001c0001t0001g0157 |
3 | 366 | 0.0082 | -25 | c.-1+ others(42): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
GABPB2_chr1_151065761_151130542 | 151114927 | TTGAACCT others(18): Show |
T | intron_variant | MODIFIER | HG02602.hp2 HG04184.hp1 |
a0002 | a0002c0002 | a0002c0002t0035a0002c0002t0036 | a0002c0002t0035g0085 a0002c0002t0036g0081 |
2 | 262 | 0.0076 | -25 | c.923 others(42): Show |
GABPB2 | ENSG00000143458.12 | transcript | ENST00000368918.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GABRB1_chr4_47026567_47431447 | 47283356 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG03654.hp1 NA19082.hp2 |
a0001a0003 | a0001c0001a0003c0012 | a0001c0001t0001a0003c0012t0001 | a0001c0001t0001g0046 a0003c0012t0001g0044 |
2 | 10 | 0.2000 | -25 | c.462 others(44): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GABRB2_chr5_161283436_161551725 | 161393299 | TAAAAAAA others(18): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0049a0001c0006t0029 | a0001c0001t0049g0251 a0001c0006t0029g0256 |
2 | 6 | 0.3333 | -25 | c.541 others(44): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 5/9 | chr5 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26764172 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 196 | 0.0051 | -25 | c.240 others(42): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26764174 | AAAAAAAT others(18): Show |
A | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0062 | 1 | 199 | 0.0050 | -25 | c.240 others(42): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26764176 | AAAAATAT others(18): Show |
A | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0058 | 1 | 193 | 0.0052 | -25 | c.240 others(42): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26764180 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 195 | 0.0051 | -25 | c.240 others(42): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRP_chr5_170778725_170819047 | 170783593 | AACTCAGG others(18): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(131): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(82): Show |
134 | 360 | 0.3722 | -25 | c.-32 others(34): Show |
GABRP | ENSG00000094755.17 | transcript | ENST00000265294.9 | protein_coding | 131 | chr5 | TogoVar | |||||||
GALK2_chr15_49165247_49336882 | 49181026 | TCCTTCCT others(18): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG01243.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0002g0020 others(25): Show |
28 | 346 | 0.0809 | -25 | c.53+ others(42): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49277137 | ATTTTTTT others(18): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00741.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0009a0001c0002t0003others(1): Show | a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0102 others(28): Show |
31 | 32 | 0.9688 | -25 | c.505 others(42): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49299710 | CTTTCTTT others(18): Show |
C | intron_variant | MODIFIER | HG02922.hp1 NA20300.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0074 a0001c0001t0015g0077 a0001c0001t0015g0080 |
3 | 346 | 0.0087 | -25 | c.967 others(42): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38686244 | CTTTCTTT others(18): Show |
C | intron_variant | MODIFIER | NA18991.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0294 | 1 | 324 | 0.0031 | -25 | c.553 others(42): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38703068 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 312 | 0.0032 | -25 | c.634 others(44): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38703070 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0011 | a0001c0001t0003g0302 a0001c0001t0003g0305 a0001c0001t0006g0206 others(1): Show |
4 | 313 | 0.0128 | -25 | c.634 others(44): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |