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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KRT40_chr17_40972715_40989326 | 40974458 | G | GTTTCTTT others(41): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0012 | a0012c0014 | a0012c0014t0005 | a0012c0014t0005g0027 | 1 | 393 | 0.0025 | 48 | c.*37 others(59): Show |
KRT40 | ENSG00000204889.11 | transcript | ENST00000377755.9 | protein_coding | 3256 | chr17 | TogoVar | |||||||
KRT40_chr17_40972715_40989326 | 40974458 | G | GTTTCTTT others(41): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG02818.hp2 others(1): Show |
a0004a0006 | a0004c0005a0006c0006 | a0004c0005t0002a0006c0006t0002 | a0004c0005t0002g0063 a0006c0006t0002g0006 a0006c0006t0002g0024 |
4 | 396 | 0.0101 | 48 | c.*37 others(59): Show |
KRT40 | ENSG00000204889.11 | transcript | ENST00000377755.9 | protein_coding | 3256 | chr17 | TogoVar | |||||||
KRT40_chr17_40972715_40989326 | 40974468 | C | CTCTCTCT others(41): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 HG02896.hp2 HG02922.hp2 |
a0004 | a0004c0005 | a0004c0005t0002a0004c0005t0004 | a0004c0005t0002g0015 a0004c0005t0004g0019 |
3 | 90 | 0.0333 | 48 | c.*37 others(59): Show |
KRT40 | ENSG00000204889.11 | transcript | ENST00000377755.9 | protein_coding | 3246 | chr17 | TogoVar | |||||||
KRT40_chr17_40972715_40989326 | 40974489 | T | TCTCTCTC others(41): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 HG02717.hp1 |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0070 a0004c0005t0002g0072 |
2 | 300 | 0.0067 | 48 | c.*37 others(59): Show |
KRT40 | ENSG00000204889.11 | transcript | ENST00000377755.9 | protein_coding | 3225 | chr17 | TogoVar | |||||||
KRTAP16-1_chr17_41302700_41314309 | 41310389 | G | GAAAGAAA others(41): Show |
upstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 254 | 0.0039 | 48 | c.-11 others(59): Show |
KRTAP16-1 | ENSG00000212657.2 | transcript | ENST00000391352.2 | protein_coding | 1081 | chr17 | TogoVar | |||||||
KRTAP16-1_chr17_41302700_41314309 | 41310389 | G | GAAAGAAA others(41): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 254 | 0.0039 | 48 | c.-11 others(59): Show |
KRTAP16-1 | ENSG00000212657.2 | transcript | ENST00000391352.2 | protein_coding | 1081 | chr17 | TogoVar | |||||||
KRTAP19-7_chr21_30555875_30566314 | 30562384 | T | TATATATA others(41): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 378 | 0.0053 | 48 | c.-10 others(59): Show |
KRTAP19-7 | ENSG00000244362.3 | transcript | ENST00000334849.2 | protein_coding | 1071 | chr21 | TogoVar | |||||||
KRTAP2-1_chr17_41041541_41052316 | 41051224 | A | ATAATATA others(41): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 399 | 0.0025 | 48 | c.-39 others(59): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 3909 | chr17 | TogoVar | |||||||
KRTAP2-1_chr17_41041541_41052316 | 41051224 | A | ATAATATA others(41): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 399 | 0.0025 | 48 | c.-39 others(59): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 3909 | chr17 | TogoVar | |||||||
KRTAP2-2_chr17_41049498_41060230 | 41051224 | A | ATAATATA others(41): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0000 a0001c0001t0004g0000 |
2 | 404 | 0.0050 | 48 | c.*36 others(59): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3273 | chr17 | TogoVar | |||||||
KRTAP2-2_chr17_41049498_41060230 | 41051224 | A | ATAATATA others(41): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 1 | 403 | 0.0025 | 48 | c.*36 others(59): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3273 | chr17 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62315904 | T | TCATGGTC others(41): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0018 | a0018c0020 | a0018c0020t0001 | a0018c0020t0001g0149 | 1 | 184 | 0.0054 | 48 | c.786 others(60): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 58/79 | chr20 | TogoVar | |||||||
LAMC1_chr1_183018420_183150592 | 183077776 | G | GTGTGTGT others(41): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0023 | 1 | 129 | 0.0078 | 48 | c.419 others(67): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LAMC1_chr1_183018420_183150592 | 183077776 | G | GTGTGTGT others(41): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0034 | 1 | 129 | 0.0078 | 48 | c.419 others(67): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LAMP1_chr13_113292239_113328672 | 113314186 | G | GTGTGGAG others(41): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02258.hp1 others(5): Show |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0020 a0004c0004t0004g0055 a0004c0004t0004g0056 others(4): Show |
8 | 352 | 0.0227 | 48 | c.562 others(65): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
LAP3_chr4_17572198_17612970 | 17577191 | C | CGCACGCG others(41): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 HG02074.hp2 HG02630.hp1 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0043 a0001c0002t0001g0089 a0001c0004t0001g0124 |
3 | 10 | 0.3000 | 48 | c.-27 others(57): Show |
LAP3 | ENSG00000002549.13 | transcript | ENST00000226299.9 | protein_coding | 6 | chr4 | TogoVar | |||||||
LAP3_chr4_17572198_17612970 | 17577191 | C | CGCACGCG others(41): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0034 | 1 | 8 | 0.1250 | 48 | c.-27 others(57): Show |
LAP3 | ENSG00000002549.13 | transcript | ENST00000226299.9 | protein_coding | 6 | chr4 | TogoVar | |||||||
LAP3_chr4_17572198_17612970 | 17577191 | C | CGCGGGCG others(41): Show |
upstream_gene_variant | MODIFIER | HG02683.hp1 HG03471.hp2 HG03490.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0147 others(1): Show |
6 | 13 | 0.4615 | 48 | c.-27 others(57): Show |
LAP3 | ENSG00000002549.13 | transcript | ENST00000226299.9 | protein_coding | 6 | chr4 | TogoVar | |||||||
LAPTM4B_chr8_97770788_97858013 | 97834144 | G | GAAAAAAA others(41): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 196 | 0.0051 | 48 | c.603 others(65): Show |
LAPTM4B | ENSG00000104341.17 | transcript | ENST00000521545.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LARGE1_chr22_33267509_33925476 | 33556560 | G | GAGGGAGG others(41): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01891.hp2 HG02258.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0002g0100 a0001c0001t0004g0010 a0001c0001t0006g0007 others(6): Show |
9 | 80 | 0.1125 | 48 | c.787 others(65): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 6/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33675292 | C | CAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 5 | 0.2000 | 48 | c.107 others(67): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 2/14 | chr22 | TogoVar | |||||||
LARP1B_chr4_128056312_128216988 | 128098747 | G | GTGTGTGT others(41): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 159 | 0.0063 | 48 | c.813 others(63): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LARP1B_chr4_128056312_128216988 | 128098747 | G | GTGTGTGT others(41): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 159 | 0.0063 | 48 | c.813 others(63): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LARP4_chr12_50395885_50485004 | 50446358 | T | TCTCTCTC others(41): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0273 | 1 | 303 | 0.0033 | 48 | c.804 others(65): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LARP4_chr12_50395885_50485004 | 50446364 | T | TCTCCCCC others(41): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0240 | 1 | 296 | 0.0034 | 48 | c.804 others(65): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LARP4_chr12_50395885_50485004 | 50446364 | T | TCTCTCCC others(41): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 1 | 296 | 0.0034 | 48 | c.804 others(65): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LARP4_chr12_50395885_50485004 | 50446366 | T | TCTCCCCC others(41): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028 | 1 | 282 | 0.0035 | 48 | c.804 others(65): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LARP4_chr12_50395885_50485004 | 50446366 | T | TCTCTCCC others(41): Show |
intron_variant | MODIFIER | HG02040.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0196 a0001c0001t0004g0210 |
2 | 283 | 0.0071 | 48 | c.804 others(65): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LARP4_chr12_50395885_50485004 | 50446368 | T | TCTCTCCC others(41): Show |
intron_variant | MODIFIER | HG01261.hp1 NA19066.hp1 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0206 a0001c0001t0001g0290 |
3 | 288 | 0.0104 | 48 | c.804 others(65): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LATS2_chr13_20968036_21066586 | 21050147 | G | GATAGATA others(41): Show |
intron_variant | MODIFIER | HG03017.hp1 NA18952.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0095 a0002c0002t0003g0125 |
2 | 56 | 0.0357 | 48 | c.-20 others(67): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 21050147 | G | GATAGATA others(41): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02074.hp2 NA18946.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0017a0002c0002t0003others(2): Show | a0001c0001t0001g0278 a0001c0001t0017g0130 a0001c0001t0017g0131 others(4): Show |
7 | 61 | 0.1148 | 48 | c.-20 others(67): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 21050147 | G | GATAGATA others(41): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01928.hp1 HG01934.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0010a0002c0002t0003others(3): Show | a0001c0001t0001g0271 a0001c0001t0010g0112 a0002c0002t0003g0094 others(12): Show |
15 | 69 | 0.2174 | 48 | c.-20 others(67): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 21050147 | G | GATAGATA others(41): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02965.hp1 HG02965.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0006others(4): Show | a0001c0001t0043a0002c0002t0011a0002c0006t0004others(4): Show | a0001c0001t0043g0139 a0002c0002t0011g0281 a0002c0006t0004g0217 others(4): Show |
7 | 61 | 0.1148 | 48 | c.-20 others(67): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 21050147 | G | GATAGATA others(41): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02148.hp1 HG02280.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0006a0003c0003others(1): Show | a0001c0001t0001a0002c0006t0004a0003c0003t0002others(1): Show | a0001c0001t0001g0209 a0001c0001t0001g0244 a0002c0006t0004g0014 others(9): Show |
12 | 66 | 0.1818 | 48 | c.-20 others(67): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 21050147 | G | GATAGATA others(41): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01109.hp2 HG01515.hp1 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0027others(5): Show | a0001c0001t0001g0090 a0001c0001t0001g0176 a0001c0001t0001g0180 others(11): Show |
14 | 68 | 0.2059 | 48 | c.-20 others(67): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 21050147 | G | GATAGATA others(41): Show |
intron_variant | MODIFIER | HG01074.hp2 HG03490.hp2 HG03492.hp1 others(1): Show |
a0002a0003 | a0002c0006a0003c0003 | a0002c0006t0004a0003c0003t0002 | a0002c0006t0004g0164 a0003c0003t0002g0011 a0003c0003t0002g0017 others(1): Show |
4 | 58 | 0.0690 | 48 | c.-20 others(67): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
LCN10_chr9_136733170_136747940 | 136736181 | G | GGGCCCAG others(41): Show |
downstream_gene_variant | MODIFIER | NA18973.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 341 | 0.0029 | 48 | c.*33 others(59): Show |
LCN10 | ENSG00000187922.14 | transcript | ENST00000497771.6 | protein_coding | 1988 | chr9 | TogoVar | |||||||
LCOR_chr10_96827298_97000956 | 96920434 | G | GTATATAT others(41): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0013 | 1 | 50 | 0.0200 | 48 | c.-18 others(69): Show |
LCOR | ENSG00000196233.14 | transcript | ENST00000421806.4 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LDHAL6A_chr11_18450856_18484601 | 18455865 | C | CTCACACC others(41): Show |
5_prime_UTR_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0263 | 1 | 29 | 0.0345 | 48 | c.-78 others(57): Show |
LDHAL6A | ENSG00000166800.11 | transcript | ENST00000280706.3 | protein_coding | 1/7 | 741 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LDHAL6A_chr11_18450856_18484601 | 18467902 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0181 | 1 | 411 | 0.0024 | 48 | c.418 others(65): Show |
LDHAL6A | ENSG00000166800.11 | transcript | ENST00000280706.3 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LDHB_chr12_21630342_21662842 | 21652654 | T | CAGTTACC others(41): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02572.hp1 others(5): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0013 a0001c0003t0002g0040 a0001c0003t0002g0041 others(1): Show |
8 | 324 | 0.0247 | 48 | c.129 others(65): Show |
LDHB | ENSG00000111716.14 | transcript | ENST00000350669.5 | protein_coding | 2/7 | chr12 | TogoVar | |||||||
LDHC_chr11_18407318_18457063 | 18455865 | C | CTCACACC others(41): Show |
downstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0243 | 1 | 28 | 0.0357 | 48 | c.*47 others(59): Show |
LDHC | ENSG00000166796.12 | transcript | ENST00000541669.6 | protein_coding | 3803 | chr11 | TogoVar | |||||||
LEMD3_chr12_65164583_65253355 | 65180989 | A | AACACACA others(41): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0039 a0001c0001t0008g0040 |
2 | 329 | 0.0061 | 48 | c.152 others(67): Show |
LEMD3 | ENSG00000174106.3 | transcript | ENST00000308330.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LEPROT_chr1_65415668_65441007 | 65417065 | C | CATATATA others(41): Show |
upstream_gene_variant | MODIFIER | HG02523.hp2 HG02965.hp2 HG03491.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0017 others(5): Show |
8 | 176 | 0.0455 | 48 | c.-36 others(59): Show |
LEPROT | ENSG00000213625.9 | transcript | ENST00000371065.9 | protein_coding | 3602 | chr1 | TogoVar | |||||||
LEPR_chr1_65415668_65646559 | 65417065 | C | CATATATA others(41): Show |
upstream_gene_variant | MODIFIER | HG02523.hp2 HG02965.hp2 HG03491.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0003a0001c0001t0034a0002c0002t0001others(1): Show | a0001c0001t0003g0014 a0001c0001t0003g0020 a0001c0001t0034g0004 others(3): Show |
6 | 109 | 0.0550 | 48 | c.-37 others(59): Show |
LEPR | ENSG00000116678.20 | transcript | ENST00000349533.11 | protein_coding | 3602 | chr1 | TogoVar | |||||||
LEP_chr7_128236278_128262629 | 128258721 | C | CTCTTTCT others(41): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 348 | 0.0029 | 48 | c.*39 others(59): Show |
LEP | ENSG00000174697.5 | transcript | ENST00000308868.5 | protein_coding | 1093 | chr7 | TogoVar | |||||||
LGR6_chr1_202188799_202324761 | 202204508 | C | CACACACA others(41): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0172 | 1 | 260 | 0.0038 | 48 | c.212 others(67): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LGR6_chr1_202188799_202324761 | 202205406 | A | ACACCTAA others(41): Show |
intron_variant | MODIFIER | HG02027.hp1 NA18612.hp1 NA18945.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0158 others(3): Show |
6 | 205 | 0.0293 | 48 | c.212 others(67): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LHFPL3_chr7_104323603_104913561 | 104430392 | A | ATACATGT others(41): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 81 | 0.0123 | 48 | c.445 others(69): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LHFPL6_chr13_39337892_39608193 | 39369597 | T | TCCTTCCC others(41): Show |
intron_variant | MODIFIER | NA19063.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0083 a0001c0001t0003g0071 |
2 | 79 | 0.0253 | 48 | c.484 others(65): Show |
LHFPL6 | ENSG00000183722.9 | transcript | ENST00000379589.4 | protein_coding | 3/3 | chr13 | TogoVar |