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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IL1RL1_chr2_102306563_102357037 | 102352893 | A | AATATTAT others(100): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(91): Show |
a0001a0004a0007 | a0001c0001a0004c0004a0007c0009 | a0001c0001t0001a0001c0001t0005a0004c0004t0002others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(52): Show |
94 | 348 | 0.2701 | 107 | c.*97 others(116): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 857 | chr2 | TogoVar | |||||||
IL1RL1_chr2_102306563_102357037 | 102352893 | A | AATATTAT others(100): Show |
downstream_gene_variant | MODIFIER | NA19000.hp2 NA19081.hp2 NA19089.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0010 |
3 | 348 | 0.0086 | 107 | c.*97 others(116): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 857 | chr2 | TogoVar | |||||||
ILRUN_chr6_34582288_34701767 | 34686896 | C | CAGTGAGC others(100): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG01884.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0109 a0001c0001t0001g0175 a0001c0001t0001g0183 others(9): Show |
12 | 316 | 0.0380 | 107 | c.158 others(124): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
IQGAP2_chr5_76398285_76713132 | 76699719 | T | TCTCTCTC others(100): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0213 | 1 | 222 | 0.0045 | 107 | c.436 others(126): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 33/35 | chr5 | TogoVar | |||||||
ISYNA1_chr19_18429388_18443133 | 18442136 | A | ACACCCCC others(100): Show |
upstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 308 | 0.0033 | 107 | c.-40 others(118): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4004 | chr19 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68400634 | T | TTATATTA others(100): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0006 | a0006c0017 | a0006c0017t0012 | a0006c0017t0012g0120 | 1 | 242 | 0.0041 | 107 | c.164 others(124): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68400917 | T | TATTATAA others(100): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01168.hp1 HG01169.hp1 others(5): Show |
a0001a0002 | a0001c0036a0001c0037a0002c0016others(1): Show | a0001c0036t0114a0001c0037t0004a0001c0037t0031others(3): Show | a0001c0036t0114g0211 a0001c0037t0004g0191 a0001c0037t0031g0174 others(5): Show |
8 | 242 | 0.0331 | 107 | c.164 others(124): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6067710 | C | CCCCCCTG others(100): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 233 | 0.0043 | 107 | c.130 others(126): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 8/20 | chr4 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147764926 | G | GAAAGAAA others(100): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0005 | a0001c0005t0027 | a0001c0005t0027g0193 | 1 | 250 | 0.0040 | 107 | c.-14 others(128): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147764930 | G | GAAAGAAA others(100): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0004 | a0001c0004t0021 | a0001c0004t0021g0160 | 1 | 250 | 0.0040 | 107 | c.-14 others(128): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132149571 | T | TCTCCGCC others(100): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0017 | a0001c0017t0027 | a0001c0017t0027g0012 | 1 | 158 | 0.0063 | 107 | c.194 others(122): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160706 | T | TGGGGAGC others(100): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0135 | 1 | 158 | 0.0063 | 107 | c.222 others(126): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15469354 | T | TCCTCCCC others(100): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 284 | 0.0035 | 107 | c.670 others(122): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KBTBD11_chr8_1968677_2011936 | 1969305 | C | CTATATTT others(100): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG02055.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0016 a0001c0001t0001g0349 a0001c0001t0002g0112 |
4 | 389 | 0.0103 | 107 | c.-55 others(118): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 4371 | chr8 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37712558 | T | TCCCCTTC others(100): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02257.hp2 HG02486.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0028a0001c0001t0125a0001c0001t0181others(5): Show | a0001c0001t0028g0142 a0001c0001t0125g0026 a0001c0001t0181g0093 others(5): Show |
8 | 198 | 0.0404 | 107 | c.946 others(124): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759993 | T | TATATATC others(100): Show |
intron_variant | MODIFIER | NA18968.hp2 NA18971.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032 a0001c0002t0001g0033 |
2 | 232 | 0.0086 | 107 | c.-67 others(126): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135733433 | T | TGCCCCCA others(100): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0025 | 1 | 272 | 0.0037 | 107 | c.255 others(126): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135733433 | T | TGCCCCCA others(100): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0127 | 1 | 272 | 0.0037 | 107 | c.255 others(126): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135733433 | T | TGCCCCCA others(100): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0004 | a0001c0004t0020 | a0001c0004t0020g0215 | 1 | 272 | 0.0037 | 107 | c.255 others(126): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KLHL1_chr13_69695597_70113452 | 69721065 | A | ATATATAT others(100): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 182 | 0.0055 | 107 | c.180 others(126): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 8/10 | chr13 | TogoVar | |||||||
LCN15_chr9_136754634_136769518 | 136769324 | C | CCACCCCC others(100): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 356 | 0.0028 | 107 | c.-48 others(118): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4807 | chr9 | TogoVar | |||||||
LCN15_chr9_136754634_136769518 | 136769383 | C | CCCCGCCA others(100): Show |
upstream_gene_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 356 | 0.0028 | 107 | c.-48 others(118): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4866 | chr9 | TogoVar | |||||||
LEP_chr7_128236278_128262629 | 128258734 | T | TTTCTTTC others(100): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0103 | 1 | 395 | 0.0025 | 107 | c.*39 others(118): Show |
LEP | ENSG00000174697.5 | transcript | ENST00000308868.5 | protein_coding | 1106 | chr7 | TogoVar | |||||||
LGR6_chr1_202188799_202324761 | 202204526 | C | CACACACA others(100): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0173 | 1 | 262 | 0.0038 | 107 | c.212 others(126): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471465 | T | TTATATAT others(100): Show |
intron_variant | MODIFIER | HG02970.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 a0001c0001t0001g0242 |
2 | 260 | 0.0077 | 107 | c.125 others(124): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471465 | T | TTTATATA others(100): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 260 | 0.0039 | 107 | c.125 others(124): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LIN28B_chr6_104952107_105088332 | 105023557 | A | ATATATTA others(100): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00642.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0223 a0001c0001t0002g0199 a0001c0001t0002g0211 others(11): Show |
14 | 278 | 0.0504 | 107 | c.199 others(124): Show |
LIN28B | ENSG00000187772.8 | transcript | ENST00000345080.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LOC114841035_chr11_64236095_64249132 | 64237123 | G | GAGAGAGA others(100): Show |
upstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 330 | 0.0030 | 107 | c.-41 others(118): Show |
LOC114841035 | ENSG00000286264.2 | transcript | ENST00000652762.2 | protein_coding | 3971 | chr11 | TogoVar | |||||||
LOC114841035_chr11_64236095_64249132 | 64237123 | G | GAGAGAGA others(100): Show |
upstream_gene_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 330 | 0.0030 | 107 | c.-41 others(118): Show |
LOC114841035 | ENSG00000286264.2 | transcript | ENST00000652762.2 | protein_coding | 3971 | chr11 | TogoVar | |||||||
LOC114841035_chr11_64236095_64249132 | 64237123 | G | GAGAGAGA others(100): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 330 | 0.0030 | 107 | c.-41 others(118): Show |
LOC114841035 | ENSG00000286264.2 | transcript | ENST00000652762.2 | protein_coding | 3971 | chr11 | TogoVar | |||||||
LOC128125818_chr4_6059977_6075162 | 6067710 | C | CCCCCCTG others(100): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 462 | 0.0022 | 107 | c.106 others(124): Show |
LOC128125818 | ENSG00000284684.1 | transcript | ENST00000636216.1 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
LRRC20_chr10_70293975_70387625 | 70367958 | C | CTATGTTA others(100): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0216 | 1 | 378 | 0.0027 | 107 | c.82+ others(122): Show |
LRRC20 | ENSG00000172731.15 | transcript | ENST00000446961.4 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
LRRC20_chr10_70293975_70387625 | 70367958 | C | CTATGTTA others(100): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0258 | 1 | 378 | 0.0027 | 107 | c.82+ others(122): Show |
LRRC20 | ENSG00000172731.15 | transcript | ENST00000446961.4 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
LRRC20_chr10_70293975_70387625 | 70367958 | C | CTATGTTA others(100): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0238 | 1 | 378 | 0.0027 | 107 | c.82+ others(122): Show |
LRRC20 | ENSG00000172731.15 | transcript | ENST00000446961.4 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
LRRC20_chr10_70293975_70387625 | 70367958 | C | CTATGTTA others(100): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0189 | 1 | 378 | 0.0027 | 107 | c.82+ others(122): Show |
LRRC20 | ENSG00000172731.15 | transcript | ENST00000446961.4 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132352654 | C | CCTCCGTG others(100): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0041 | a0001c0001t0011g0219 a0001c0001t0041g0218 |
2 | 290 | 0.0069 | 107 | c.107 others(124): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132358647 | C | CAGTGTGG others(100): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0004 | a0002c0004t0016 | a0002c0004t0016g0018 | 1 | 290 | 0.0035 | 107 | c.117 others(126): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132358722 | A | AAGGTGAT others(100): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02717.hp2 HG03486.hp1 |
a0001 | a0001c0006 | a0001c0006t0017a0001c0006t0026a0001c0006t0027 | a0001c0006t0017g0105 a0001c0006t0026g0106 a0001c0006t0027g0107 |
3 | 290 | 0.0103 | 107 | c.117 others(126): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132359154 | C | CAGCGTGG others(100): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18959.hp2 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0170 |
3 | 290 | 0.0103 | 107 | c.117 others(126): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364602 | C | CCACACTT others(100): Show |
intron_variant | MODIFIER | HG00735.hp2 HG03130.hp1 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0095 a0001c0003t0006g0097 |
2 | 290 | 0.0069 | 107 | c.129 others(124): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | chr10 | TogoVar | |||||||
LRRTM4_chr2_76742685_77527376 | 77307997 | T | TCTATATA others(100): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 128 | 0.0078 | 107 | c.155 others(130): Show |
LRRTM4 | ENSG00000176204.14 | transcript | ENST00000409884.6 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186042 | G | GACACGGG others(100): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 350 | 0.0029 | 107 | c.*31 others(118): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2947 | chr16 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186042 | G | GACACGGG others(100): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 350 | 0.0029 | 107 | c.*31 others(118): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2947 | chr16 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186170 | G | GGAGGAAC others(100): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 350 | 0.0029 | 107 | c.*30 others(118): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2819 | chr16 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186339 | G | GGGAGGAA others(100): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 350 | 0.0029 | 107 | c.*28 others(118): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2650 | chr16 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186353 | C | CGGAGGGA others(100): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 350 | 0.0029 | 107 | c.*28 others(118): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2636 | chr16 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186646 | G | GGGAACAG others(100): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 350 | 0.0029 | 107 | c.*25 others(118): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2343 | chr16 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1930522 | T | TGCCACGT others(100): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 264 | 0.0038 | 107 | c.180 others(126): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1940964 | G | GCAGGCCT others(100): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 264 | 0.0038 | 107 | c.159 others(126): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 16/18 | chr7 | TogoVar | |||||||
MAEA_chr4_1284891_1345137 | 1316984 | T | TAGACTCA others(100): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 388 | 0.0026 | 107 | c.456 others(124): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |