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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FRMD4A_chr10_13638706_14335924 | 13856013 | A | ACTATCTA others(20): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0055 | 1 | 134 | 0.0075 | 27 | c.111 others(44): Show |
FRMD4A | ENSG00000151474.23 | transcript | ENST00000357447.7 | protein_coding | 3/24 | chr10 | TogoVar | ||||||
FRMD4A_chr10_13638706_14335924 | 13921270 | C | CTCTTCTC others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01074.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0096a0001c0001t0002g0128a0001c0001t0005g0030others(5): Show | 8 | 134 | 0.0597 | 27 | c.46- others(44): Show |
FRMD4A | ENSG00000151474.23 | transcript | ENST00000357447.7 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
FRMD4B_chr3_69163782_69391088 | 69325077 | A | AAAGAAAG others(20): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0004 | a0004c0006 | a0004c0006t0009 | a0004c0006t0009g0041 | 1 | 224 | 0.0045 | 27 | c.163 others(46): Show |
FRMD4B | ENSG00000114541.15 | transcript | ENST00000398540.8 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
FRMD4B_chr3_69163782_69391088 | 69325085 | A | AAAGAAAG others(20): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02071.hp1 HG02129.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0014a0001c0001t0015others(4): Show | a0001c0001t0002g0114a0001c0001t0002g0169a0001c0001t0002g0221others(6): Show | 9 | 224 | 0.0402 | 27 | c.163 others(46): Show |
FRMD4B | ENSG00000114541.15 | transcript | ENST00000398540.8 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
FRMD5_chr15_43865764_44200271 | 43914723 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 146 | 0.0069 | 27 | c.329 others(44): Show |
FRMD5 | ENSG00000171877.21 | transcript | ENST00000417257.6 | protein_coding | 4/13 | chr15 | TogoVar | ||||||
FRMD6_chr14_51646910_51735727 | 51701372 | G | GAGTATAT others(20): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18994.hp2 NA19055.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0185a0001c0004t0005g0187a0001c0004t0005g0190others(1): Show | 4 | 390 | 0.0103 | 27 | c.294 others(42): Show |
FRMD6 | ENSG00000139926.16 | transcript | ENST00000344768.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FRMPD2_chr10_48151562_48279696 | 48183851 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0008 | a0008c0023 | a0008c0023t0004 | a0008c0023t0004g0010 | 1 | 250 | 0.0040 | 27 | c.258 others(44): Show |
FRMPD2 | ENSG00000170324.21 | transcript | ENST00000374201.8 | protein_coding | 20/28 | chr10 | TogoVar | ||||||
FRMPD4_chrX_12133473_12729523 | 12193774 | G | GAAAGAAA others(20): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 NA19007.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0045a0001c0001t0001g0104a0001c0001t0002g0089others(1): Show | 4 | 174 | 0.0230 | 27 | c.41+ others(44): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 1/16 | chrX | TogoVar | ||||||
FRMPD4_chrX_12133473_12729523 | 12331801 | T | TTATATAT others(20): Show |
intron_variant | MODIFIER | HG02818.hp2 NA19030.hp2 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0017t0002 | a0001c0001t0001g0173a0001c0017t0002g0026 | 2 | 174 | 0.0115 | 27 | c.42- others(46): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FRMPD4_chrX_12133473_12729523 | 12331808 | T | TATTTATA others(20): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03491.hp1 HG03492.hp1 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0008t0004 | a0001c0001t0001g0063a0001c0001t0002g0096a0001c0001t0002g0097others(1): Show | 4 | 174 | 0.0230 | 27 | c.42- others(46): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FRMPD4_chrX_12133473_12729523 | 12331857 | T | TTATATAT others(20): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02083.hp1 HG03471.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0002g0043a0001c0002t0001g0047a0001c0002t0001g0123others(4): Show | 7 | 174 | 0.0402 | 27 | c.42- others(46): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FRMPD4_chrX_12133473_12729523 | 12331859 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02257.hp1 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0012 | a0001c0001t0002g0024a0002c0003t0012g0117 | 2 | 174 | 0.0115 | 27 | c.42- others(46): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FRMPD4_chrX_12133473_12729523 | 12331996 | T | TTATATAT others(20): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00673.hp1 HG01169.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0082a0001c0001t0002g0064a0001c0001t0002g0068others(10): Show | 13 | 174 | 0.0747 | 27 | c.42- others(46): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FRMPD4_chrX_12133473_12729523 | 12481942 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0005 | a0005c0019 | a0005c0019t0001 | a0005c0019t0001g0130 | 1 | 174 | 0.0058 | 27 | c.42- others(44): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FSD1L_chr9_105443034_105557433 | 105533416 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0125a0001c0001t0004g0126 | 2 | 380 | 0.0053 | 27 | c.102 others(46): Show |
FSD1L | ENSG00000106701.13 | transcript | ENST00000481272.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FSD2_chr15_82750362_82811069 | 82778158 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02486.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0143a0001c0001t0008g0214a0001c0001t0008g0270 | 3 | 384 | 0.0078 | 27 | c.111 others(44): Show |
FSD2 | ENSG00000186628.12 | transcript | ENST00000334574.12 | protein_coding | 6/12 | chr15 | TogoVar | ||||||
FSTL4_chr5_133191455_133617541 | 133375312 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01978.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005 | a0002c0002t0002g0076a0002c0002t0002g0101a0002c0002t0005g0009 | 3 | 176 | 0.0171 | 27 | c.409 others(46): Show |
FSTL4 | ENSG00000053108.18 | transcript | ENST00000265342.12 | protein_coding | 4/15 | chr5 | TogoVar | ||||||
FSTL4_chr5_133191455_133617541 | 133517447 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00639.hp2 NA18963.hp1 NA18988.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0002 | a0001c0001t0001g0030a0001c0001t0004g0038a0002c0002t0002g0062 | 3 | 176 | 0.0171 | 27 | c.160 others(46): Show |
FSTL4 | ENSG00000053108.18 | transcript | ENST00000265342.12 | protein_coding | 3/15 | chr5 | TogoVar | ||||||
FSTL4_chr5_133191455_133617541 | 133517447 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01167.hp2 HG02602.hp2 others(3): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0013 | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(1): Show | a0001c0001t0001g0071a0001c0001t0004g0037a0002c0002t0002g0040others(3): Show | 6 | 176 | 0.0341 | 27 | c.160 others(46): Show |
FSTL4 | ENSG00000053108.18 | transcript | ENST00000265342.12 | protein_coding | 3/15 | chr5 | TogoVar | ||||||
FSTL4_chr5_133191455_133617541 | 133517447 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01884.hp1 HG01891.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0003c0004t0005 | a0001c0001t0001g0144a0001c0001t0003g0014a0003c0004t0005g0126 | 3 | 176 | 0.0171 | 27 | c.160 others(46): Show |
FSTL4 | ENSG00000053108.18 | transcript | ENST00000265342.12 | protein_coding | 3/15 | chr5 | TogoVar | ||||||
FSTL4_chr5_133191455_133617541 | 133517447 | A | AAAAATAT others(20): Show |
intron_variant | MODIFIER | HG03471.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0052a0001c0001t0003g0164 | 2 | 176 | 0.0114 | 27 | c.160 others(46): Show |
FSTL4 | ENSG00000053108.18 | transcript | ENST00000265342.12 | protein_coding | 3/15 | chr5 | TogoVar | ||||||
FSTL5_chr4_161378897_162169000 | 162153712 | G | GTATATAA others(20): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01123.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0004a0002c0004t0004 | a0001c0001t0004g0122a0002c0004t0004g0121 | 2 | 142 | 0.0141 | 27 | c.-17 others(44): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 1/15 | chr4 | TogoVar | ||||||
FST_chr5_53475629_53492134 | 53476035 | T | TATATATA others(20): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 462 | 0.0022 | 27 | c.-47 others(38): Show |
FST | ENSG00000134363.12 | transcript | ENST00000256759.8 | protein_coding | 4593 | chr5 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46135384 | C | CCCTCACA others(20): Show |
downstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0050 | 1 | 230 | 0.0044 | 27 | c.*16 others(38): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 1394 | chr21 | TogoVar | ||||||
FTO_chr16_53699156_54126941 | 53950155 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01261.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0156a0001c0001t0008g0106 | 2 | 194 | 0.0103 | 27 | c.136 others(48): Show |
FTO | ENSG00000140718.22 | transcript | ENST00000471389.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FUCA1_chr1_23840077_23873290 | 23869244 | A | AAGGAAGG others(20): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 380 | 0.0026 | 27 | c.-95 others(36): Show |
FUCA1 | ENSG00000179163.12 | transcript | ENST00000374479.4 | protein_coding | 955 | chr1 | TogoVar | ||||||
FUT8_chr14_65407730_65749121 | 65474441 | G | GAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 374 | 0.0027 | 27 | c.-22 others(48): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FUT8_chr14_65407730_65749121 | 65643663 | A | AAATACAC others(20): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0253 | 1 | 374 | 0.0027 | 27 | c.597 others(46): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FUT9_chr6_96010974_96220612 | 96110815 | C | CTATTTTT others(20): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01069.hp1 HG01123.hp1 others(23): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(9): Show | a0001c0001t0002g0072a0001c0001t0002g0131a0001c0001t0002g0146others(23): Show | 26 | 320 | 0.0813 | 27 | c.-97 others(44): Show |
FUT9 | ENSG00000172461.11 | transcript | ENST00000302103.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FUZ_chr19_49801866_49818292 | 49811708 | A | ATCATATA others(20): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0076 | 1 | 410 | 0.0024 | 27 | c.319 others(40): Show |
FUZ | ENSG00000010361.14 | transcript | ENST00000313777.9 | protein_coding | 3/10 | chr19 | TogoVar | ||||||
FXYD5_chr19_35149735_35174881 | 35161221 | A | ACACACAC others(20): Show |
intron_variant | MODIFIER | NA18956.hp2 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0184a0001c0001t0003g0236 | 2 | 462 | 0.0043 | 27 | c.292 others(42): Show |
FXYD5 | ENSG00000089327.15 | transcript | ENST00000392219.7 | protein_coding | 5/8 | chr19 | TogoVar | ||||||
FXYD5_chr19_35149735_35174881 | 35161248 | A | ACACACAC others(20): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01070.hp1 HG01261.hp2 others(11): Show |
a0001a0002 | a0001c0006a0002c0003 | a0001c0006t0002a0002c0003t0001a0002c0003t0002 | a0001c0006t0002g0100a0002c0003t0001g0014a0002c0003t0001g0101others(8): Show | 14 | 462 | 0.0303 | 27 | c.292 others(42): Show |
FXYD5 | ENSG00000089327.15 | transcript | ENST00000392219.7 | protein_coding | 5/8 | chr19 | TogoVar | ||||||
FYB2_chr1_56713789_56824404 | 56757686 | C | CCTTCCTT others(20): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 380 | 0.0026 | 27 | c.109 others(46): Show |
FYB2 | ENSG00000187889.13 | transcript | ENST00000343433.7 | protein_coding | 6/19 | chr1 | TogoVar | ||||||
FYN_chr6_111655332_111878452 | 111657969 | A | ATTTTTTT others(20): Show |
downstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 234 | 0.0043 | 27 | c.*37 others(38): Show |
FYN | ENSG00000010810.18 | transcript | ENST00000354650.7 | protein_coding | 2362 | chr6 | TogoVar | ||||||
FYN_chr6_111655332_111878452 | 111773596 | A | AAGGGAGA others(20): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 234 | 0.0043 | 27 | c.-12 others(44): Show |
FYN | ENSG00000010810.18 | transcript | ENST00000354650.7 | protein_coding | 3/13 | chr6 | TogoVar | ||||||
FYTTD1_chr3_197744883_197792596 | 197759904 | C | CTCAGTGG others(20): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02615.hp2 HG02647.hp1 others(3): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0002a0002c0002t0015a0002c0002t0029others(1): Show | a0002c0002t0002g0023a0002c0002t0002g0024a0002c0002t0002g0027others(3): Show | 6 | 256 | 0.0234 | 27 | c.235 others(44): Show |
FYTTD1 | ENSG00000122068.13 | transcript | ENST00000241502.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FYTTD1_chr3_197744883_197792596 | 197760199 | T | TTGTTCCT others(20): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01069.hp1 HG01071.hp1 others(35): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0006 | a0001c0003t0008a0001c0003t0023a0001c0003t0024others(13): Show | a0001c0003t0008g0012a0001c0003t0008g0086a0001c0003t0008g0087others(33): Show | 38 | 256 | 0.1484 | 27 | c.235 others(44): Show |
FYTTD1 | ENSG00000122068.13 | transcript | ENST00000241502.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FYTTD1_chr3_197744883_197792596 | 197766460 | T | TGTGTGTG others(20): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 256 | 0.0039 | 27 | c.236 others(44): Show |
FYTTD1 | ENSG00000122068.13 | transcript | ENST00000241502.9 | protein_coding | 2/8 | chr3 | TogoVar | ||||||
FYTTD1_chr3_197744883_197792596 | 197792575 | T | TATATATA others(20): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0103 | 1 | 256 | 0.0039 | 27 | c.*10 others(40): Show |
FYTTD1 | ENSG00000122068.13 | transcript | ENST00000241502.9 | protein_coding | 4980 | chr3 | TogoVar | ||||||
FZD7_chr2_202028855_202043441 | 202040052 | C | CTTTTTTT others(20): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 HG01258.hp1 HG01516.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 8 | 420 | 0.0191 | 27 | c.*36 others(38): Show |
FZD7 | ENSG00000155760.3 | transcript | ENST00000286201.3 | protein_coding | 1612 | chr2 | TogoVar | ||||||
G3BP2_chr4_75637786_75678411 | 75674718 | A | ATATATAT others(20): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0219 | 1 | 330 | 0.0030 | 27 | c.-15 others(38): Show |
G3BP2 | ENSG00000138757.15 | transcript | ENST00000359707.9 | protein_coding | 1308 | chr4 | TogoVar | ||||||
GAB2_chr11_78210293_78422820 | 78318369 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02300.hp2 NA18971.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0231a0001c0001t0001g0284a0001c0001t0004g0190 | 3 | 288 | 0.0104 | 27 | c.76- others(44): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
GAB3_chrX_154670249_154756077 | 154672242 | T | TTTCTTCC others(20): Show |
downstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 257 | 0.0039 | 27 | c.*59 others(38): Show |
GAB3 | ENSG00000160219.12 | transcript | ENST00000424127.3 | protein_coding | 3006 | chrX | TogoVar | ||||||
GAB3_chrX_154670249_154756077 | 154672298 | T | TCTTCTTC others(20): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0234 | 1 | 257 | 0.0039 | 27 | c.*58 others(38): Show |
GAB3 | ENSG00000160219.12 | transcript | ENST00000424127.3 | protein_coding | 2950 | chrX | TogoVar | ||||||
GABARAP_chr17_7235008_7247449 | 7243271 | A | AGGTTTCT others(20): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 388 | 0.0026 | 27 | c.-94 others(36): Show |
GABARAP | ENSG00000170296.10 | transcript | ENST00000302386.10 | protein_coding | 823 | chr17 | TogoVar | ||||||
GABBR2_chr9_98283109_98713935 | 98390375 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0014 | a0002c0014t0006 | a0002c0014t0006g0068 | 1 | 164 | 0.0061 | 27 | c.137 others(46): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 9/18 | chr9 | TogoVar | ||||||
GABBR2_chr9_98283109_98713935 | 98492349 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0057 | 1 | 164 | 0.0061 | 27 | c.732 others(44): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 4/18 | chr9 | TogoVar | ||||||
GABPB2_chr1_151065761_151130542 | 151104775 | C | CTCTTCTT others(20): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 264 | 0.0038 | 27 | c.736 others(44): Show |
GABPB2 | ENSG00000143458.12 | transcript | ENST00000368918.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GABPB2_chr1_151065761_151130542 | 151104802 | T | TTTCTTTC others(20): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01071.hp1 HG02027.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(3): Show | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0172others(8): Show | 11 | 264 | 0.0417 | 27 | c.736 others(44): Show |
GABPB2 | ENSG00000143458.12 | transcript | ENST00000368918.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GABRA3_chrX_152161234_152456315 | 152275181 | T | TTAATATT others(20): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0143a0001c0001t0002g0070 | 2 | 204 | 0.0098 | 27 | c.330 others(44): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 4/9 | chrX | TogoVar |