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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AMIGO1_chr1_109499178_109514727 | 109511254 | AAAAAGAA others(30): Show |
A | upstream_gene_variant | MODIFIER | HG02630.hp2 HG03098.hp2 HG03471.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0002a0001c0001t0004g0004a0001c0001t0005g0005 | 5 | 400 | 0.0125 | -37 | c.-19 others(48): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 1528 | chr1 | TogoVar | ||||||
ANGPTL1_chr1_178844535_178876077 | 178869106 | ATACTTAC others(30): Show |
A | splice_donor_variant others(3): Show |
HIGH | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0321 | 1 | 424 | 0.0024 | -37 | c.-56 others(46): Show |
ANGPTL1 | ENSG00000116194.13 | transcript | ENST00000234816.7 | protein_coding | 2/6 | 3331 | chr1 | TogoVar | |||||
ANKFY1_chr17_4158821_4268979 | 4245475 | ACCACAAG others(30): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG02922.hp1 others(6): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0031a0001c0004t0006 | a0001c0002t0031g0133a0001c0004t0006g0134a0001c0004t0006g0135others(6): Show | 9 | 300 | 0.0300 | -37 | c.11- others(52): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 1/24 | chr17 | TogoVar | ||||||
ANKRD30B_chr18_14743172_14859667 | 14855503 | TACTTCCC others(30): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02622.hp2 HG06807.hp2 |
a0005 | a0005c0005 | a0005c0005t0006 | a0005c0005t0006g0245a0005c0005t0006g0246a0005c0005t0006g0247 | 3 | 316 | 0.0095 | -37 | c.*13 others(48): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 837 | chr18 | TogoVar | ||||||
ANKRD30B_chr18_14743172_14859667 | 14857940 | AGGCAGAG others(30): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02615.hp1 HG02630.hp2 others(3): Show |
a0008a0023a0031 | a0008c0010a0023c0043a0031c0047 | a0008c0010t0001a0008c0010t0008a0023c0043t0001others(1): Show | a0008c0010t0001g0261a0008c0010t0001g0262a0008c0010t0008g0006others(3): Show | 6 | 316 | 0.0190 | -37 | c.*37 others(48): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 3274 | chr18 | TogoVar | ||||||
ANKRD44_chr2_196981662_197315780 | 197273971 | AAAAAAAA others(30): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02630.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0030a0001c0001t0001g0045a0001c0001t0004g0087others(8): Show | 11 | 114 | 0.0965 | -37 | c.27+ others(54): Show |
ANKRD44 | ENSG00000065413.20 | transcript | ENST00000282272.15 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ANKRD44_chr2_196981662_197315780 | 197273973 | AAAAAAAA others(30): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0065 | 1 | 114 | 0.0088 | -37 | c.27+ others(54): Show |
ANKRD44 | ENSG00000065413.20 | transcript | ENST00000282272.15 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ANKRD53_chr2_70973630_70990499 | 70990216 | CGCAGCAA others(30): Show |
C | downstream_gene_variant | MODIFIER | HG02886.hp1 HG03579.hp1 NA19030.hp1 |
a0001a0003 | a0001c0002a0001c0029a0003c0015 | a0001c0002t0001a0001c0029t0001a0003c0015t0001 | a0001c0002t0001g0043a0001c0029t0001g0042a0003c0015t0001g0052 | 3 | 450 | 0.0067 | -37 | c.*49 others(48): Show |
ANKRD53 | ENSG00000144031.12 | transcript | ENST00000360589.4 | protein_coding | 4718 | chr2 | TogoVar | ||||||
ANO3_chr11_26327130_26668289 | 26529367 | TAATAATT others(30): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00558.hp1 others(96): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(28): Show | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0040others(96): Show | 99 | 190 | 0.5211 | -37 | c.738 others(54): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 7/26 | chr11 | TogoVar | ||||||
ANO3_chr11_26327130_26668289 | 26658778 | GCTTTTAT others(30): Show |
G | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0006 | a0001c0006t0012 | a0001c0006t0012g0180 | 1 | 190 | 0.0053 | -37 | c.276 others(56): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANTXR2_chr4_79896146_80078229 | 80015886 | GAAAGGAA others(30): Show |
G | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0203 | 1 | 268 | 0.0037 | -37 | c.945 others(54): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 11/16 | chr4 | TogoVar | ||||||
ANXA10_chr4_168087537_168192736 | 168155482 | TATTATAT others(30): Show |
T | intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0195 | 1 | 284 | 0.0035 | -37 | c.196 others(54): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANXA2_chr15_60342151_60402986 | 60367710 | GCCAGCCG others(30): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0285 | 1 | 334 | 0.0030 | -37 | c.149 others(54): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40982364 | AAGGAAGG others(30): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0008 | a0002c0008t0046 | a0002c0008t0046g0090 | 1 | 192 | 0.0052 | -37 | c.835 others(56): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41049262 | TCTCTGCC others(30): Show |
T | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0043 | 1 | 192 | 0.0052 | -37 | c.-50 others(56): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 4/17 | chr4 | TogoVar | ||||||
APOC2_chr19_44941051_44954565 | 44948977 | CTCCTCCC others(30): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 398 | 0.0025 | -37 | c.216 others(52): Show |
APOC2 | ENSG00000234906.11 | transcript | ENST00000252490.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
APOC4_chr19_44937237_44950496 | 44948977 | CTCCTCCC others(30): Show |
C | downstream_gene_variant | MODIFIER | HG03486.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004 | 1 | 398 | 0.0025 | -37 | c.*36 others(48): Show |
APOC4 | ENSG00000267467.4 | transcript | ENST00000592954.2 | protein_coding | 3482 | chr19 | TogoVar | ||||||
APOO_chrX_23828353_23912938 | 23829554 | AAAAAAAA others(30): Show |
A | downstream_gene_variant | MODIFIER | HG03490.hp1 HG03491.hp1 HG03492.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0023a0001c0001t0001g0049a0001c0001t0003g0116others(3): Show | 6 | 269 | 0.0223 | -37 | c.*40 others(48): Show |
APOO | ENSG00000184831.14 | transcript | ENST00000379226.9 | protein_coding | 3798 | chrX | TogoVar | ||||||
ARHGAP10_chr4_147727088_148077776 | 147783924 | GTATTATA others(30): Show |
G | intron_variant | MODIFIER | HG02572.hp2 NA18906.hp1 NA21309.hp2 |
a0001a0004 | a0001c0001a0001c0004a0004c0010 | a0001c0001t0001a0001c0004t0001a0004c0010t0001 | a0001c0001t0001g0106a0001c0004t0001g0105a0004c0010t0001g0048 | 3 | 106 | 0.0283 | -37 | c.155 others(56): Show |
ARHGAP10 | ENSG00000071205.12 | transcript | ENST00000336498.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ARHGAP12_chr10_31800398_31933831 | 31803133 | TTCCAATC others(30): Show |
T | downstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0084 | 1 | 322 | 0.0031 | -37 | c.*44 others(48): Show |
ARHGAP12 | ENSG00000165322.18 | transcript | ENST00000344936.7 | protein_coding | 2264 | chr10 | TogoVar | ||||||
ARHGAP21_chr10_24578614_24728887 | 24657173 | GCCTCTGC others(30): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(99): Show |
a0002a0003a0004others(7): Show | a0002c0002a0002c0015a0002c0018others(11): Show | a0002c0002t0001a0002c0002t0004a0002c0015t0001others(12): Show | a0002c0002t0001g0010a0002c0002t0001g0018a0002c0002t0001g0020others(99): Show | 102 | 352 | 0.2898 | -37 | c.268 others(54): Show |
ARHGAP21 | ENSG00000107863.20 | transcript | ENST00000396432.7 | protein_coding | 4/25 | chr10 | TogoVar | ||||||
ARHGAP44_chr17_12784498_12996643 | 12926437 | ATGTATAT others(30): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp1 HG01255.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0101a0001c0001t0001g0117a0001c0001t0003g0048others(7): Show | 10 | 230 | 0.0435 | -37 | c.465 others(54): Show |
ARHGAP44 | ENSG00000006740.18 | transcript | ENST00000379672.10 | protein_coding | 6/20 | chr17 | TogoVar | ||||||
ARHGAP6_chrX_11132544_11670920 | 11469593 | TACCTCTT others(30): Show |
T | intron_variant | MODIFIER | HG02735.hp1 HG03098.hp1 NA19240.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0002c0002t0003a0002c0002t0006others(1): Show | a0001c0001t0001g0024a0002c0002t0003g0016a0002c0002t0006g0031others(1): Show | 4 | 144 | 0.0278 | -37 | c.588 others(58): Show |
ARHGAP6 | ENSG00000047648.23 | transcript | ENST00000337414.9 | protein_coding | 1/12 | chrX | TogoVar | ||||||
ARHGDIG_chr16_275591_288010 | 281284 | GGAGGGCC others(30): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02572.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0003g0005a0001c0001t0005g0005a0001c0001t0005g0044others(3): Show | 16 | 442 | 0.0362 | -37 | c.74- others(50): Show |
ARHGDIG | ENSG00000242173.10 | transcript | ENST00000219409.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ARHGDIG_chr16_275591_288010 | 281308 | CTTGGGGG others(30): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG01109.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(3): Show | a0001c0001t0001g0007a0001c0001t0006g0045a0001c0001t0009g0007others(3): Show | 17 | 442 | 0.0385 | -37 | c.74- others(50): Show |
ARHGDIG | ENSG00000242173.10 | transcript | ENST00000219409.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1888566 | CACTGAGT others(30): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01346.hp1 HG03017.hp2 others(1): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0040 | a0001c0001t0019a0001c0002t0001a0001c0002t0010others(1): Show | a0001c0001t0019g0278a0001c0002t0001g0037a0001c0002t0010g0212others(1): Show | 4 | 363 | 0.0110 | -37 | c.118 others(56): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF12_chr11_120331413_120494937 | 120351423 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG00738.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(6): Show | a0001c0001t0002g0019a0001c0001t0002g0021a0001c0001t0002g0091others(37): Show | 40 | 308 | 0.1299 | -37 | c.32+ others(54): Show |
ARHGEF12 | ENSG00000196914.9 | transcript | ENST00000397843.7 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ARHGEF12_chr11_120331413_120494937 | 120351425 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01123.hp1 HG01258.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0033a0001c0001t0036others(3): Show | a0001c0001t0002g0018a0001c0001t0002g0106a0001c0001t0002g0107others(8): Show | 11 | 308 | 0.0357 | -37 | c.32+ others(54): Show |
ARHGEF12 | ENSG00000196914.9 | transcript | ENST00000397843.7 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ARHGEF12_chr11_120331413_120494937 | 120351427 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG02083.hp2 HG02647.hp1 others(1): Show |
a0001a0002 | a0001c0007a0002c0003 | a0001c0007t0015a0002c0003t0030 | a0001c0007t0015g0125a0001c0007t0015g0126a0001c0007t0015g0127others(1): Show | 4 | 308 | 0.0130 | -37 | c.32+ others(54): Show |
ARHGEF12 | ENSG00000196914.9 | transcript | ENST00000397843.7 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ARHGEF18_chr19_7343937_7477478 | 7385870 | TCCCCCCT others(30): Show |
T | intron_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0023 | 1 | 298 | 0.0034 | -37 | c.967 others(54): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 10/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ARHGEF1_chr19_41878184_41912452 | 41893590 | GGGGGCCT others(30): Show |
G | intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 234 | 0.0043 | -37 | c.644 others(52): Show |
ARHGEF1 | ENSG00000076928.20 | transcript | ENST00000354532.8 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45886146 | GTGGGATA others(30): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02647.hp2 HG02886.hp1 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0006a0003c0004t0018 | a0003c0004t0006g0105a0003c0004t0006g0106a0003c0004t0006g0107others(2): Show | 5 | 318 | 0.0157 | -37 | c.492 others(56): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARMC9_chr2_231193631_231381848 | 231249801 | ACCCACCC others(30): Show |
A | intron_variant | MODIFIER | HG01981.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0020 | a0001c0001t0006g0057a0001c0001t0020g0092 | 2 | 200 | 0.0100 | -37 | c.880 others(54): Show |
ARMC9 | ENSG00000135931.19 | transcript | ENST00000611582.5 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ARRDC1_chr9_137600686_137620360 | 137601218 | TATATATA others(30): Show |
T | upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 338 | 0.0030 | -37 | c.-44 others(48): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4467 | chr9 | TogoVar | ||||||
ARRDC1_chr9_137600686_137620360 | 137601225 | ATATATAT others(30): Show |
A | upstream_gene_variant | MODIFIER | HG03516.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0040 | 1 | 338 | 0.0030 | -37 | c.-44 others(48): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4460 | chr9 | TogoVar | ||||||
ARRDC1_chr9_137600686_137620360 | 137601227 | ATATATAT others(30): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02922.hp1 NA18906.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0024a0003c0003t0002g0040 | 3 | 338 | 0.0089 | -37 | c.-44 others(48): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4458 | chr9 | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3080255 | CATGAGGT others(30): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(149): Show |
a0000a0001a0002others(4): Show | a0000c0018a0001c0001a0001c0002others(10): Show | a0000c0018t0002a0001c0001t0001a0001c0001t0004others(13): Show | a0000c0018t0002g0129a0001c0001t0001g0001a0001c0001t0001g0002others(145): Show | 152 | 193 | 0.7876 | -37 | c.284 others(52): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARSG_chr17_68286495_68425814 | 68331225 | CTTTCTTT others(30): Show |
C | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 304 | 0.0033 | -37 | c.219 others(56): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ASB18_chr2_236188459_236269406 | 236237355 | GCGGGGCG others(30): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0025 | a0001c0025t0003 | a0001c0025t0003g0222 | 1 | 250 | 0.0040 | -37 | c.596 others(52): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 3/5 | chr2 | TogoVar | ||||||
ASIC4_chr2_219509482_219543772 | 219535334 | TGTGTGTG others(30): Show |
T | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 372 | 0.0027 | -37 | c.122 others(52): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASPDH_chr19_50506603_50518913 | 50508003 | CCCTGACT others(30): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 372 | 0.0027 | -37 | c.*36 others(48): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 3599 | chr19 | TogoVar | ||||||
ATAD5_chr17_30826966_30900869 | 30850845 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0056a0002c0002t0002g0057 | 2 | 286 | 0.0070 | -37 | c.245 others(56): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ATAD5_chr17_30826966_30900869 | 30850847 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | NA18977.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0031 | 1 | 286 | 0.0035 | -37 | c.245 others(56): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ATAD5_chr17_30826966_30900869 | 30850849 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG01070.hp1 others(45): Show |
a0002 | a0002c0002a0002c0012a0002c0019 | a0002c0002t0002a0002c0002t0019a0002c0012t0002others(1): Show | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0003others(43): Show | 48 | 286 | 0.1678 | -37 | c.245 others(56): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ATAD5_chr17_30826966_30900869 | 30850851 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | HG02056.hp1 HG02809.hp1 NA18973.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0009 | a0002c0002t0002g0004a0002c0002t0002g0014a0002c0002t0002g0019others(5): Show | 8 | 286 | 0.0280 | -37 | c.245 others(56): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ATAD5_chr17_30826966_30900869 | 30850853 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0018 | 1 | 286 | 0.0035 | -37 | c.245 others(56): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82139562 | TGCCCGGC others(30): Show |
T | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0010 | 1 | 226 | 0.0044 | -37 | c.217 others(56): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG2B_chr14_96274195_96368341 | 96308243 | TATATATA others(30): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG03831.hp2 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0197a0001c0003t0005g0198 | 2 | 356 | 0.0056 | -37 | c.430 others(56): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | ||||||
ATG2B_chr14_96274195_96368341 | 96308245 | TATATATA others(30): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01168.hp2 HG03239.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0011 | a0001c0003t0005g0199a0001c0003t0011g0007a0001c0003t0011g0109others(2): Show | 6 | 356 | 0.0169 | -37 | c.430 others(56): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | ||||||
ATG2B_chr14_96274195_96368341 | 96308246 | ATATATAC others(30): Show |
A | intron_variant | MODIFIER | HG04115.hp1 NA18747.hp1 |
a0001 | a0001c0003a0001c0035 | a0001c0003t0037a0001c0035t0034 | a0001c0003t0037g0196a0001c0035t0034g0221 | 2 | 356 | 0.0056 | -37 | c.430 others(56): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar |