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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LMTK2_chr7_98101862_98214638 | 98129355 | A | AGTTTTGT others(8): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0009 | a0001c0009t0012 | a0001c0009t0012g0047 | 1 | 390 | 0.0026 | 15 | c.104 others(32): Show |
LMTK2 | ENSG00000164715.6 | transcript | ENST00000297293.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LMTK2_chr7_98101862_98214638 | 98201599 | G | GTGTTTTG others(8): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0273 | 1 | 390 | 0.0026 | 15 | c.410 others(34): Show |
LMTK2 | ENSG00000164715.6 | transcript | ENST00000297293.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LMX1A_chr1_165196867_165361715 | 165247054 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02258.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0004g0019 a0001c0002t0001g0024 a0001c0002t0002g0227 others(2): Show |
5 | 288 | 0.0174 | 15 | c.496 others(32): Show |
LMX1A | ENSG00000162761.14 | transcript | ENST00000342310.7 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
LMX1B_chr9_126608928_126706032 | 126668443 | T | TTTATTAT others(8): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01884.hp2 others(8): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0188a0001c0002t0191a0001c0003t0049others(6): Show | a0001c0002t0188g0131 a0001c0002t0191g0149 a0001c0003t0049g0147 others(8): Show |
11 | 342 | 0.0322 | 15 | c.327 others(34): Show |
LMX1B | ENSG00000136944.19 | transcript | ENST00000373474.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LMX1B_chr9_126608928_126706032 | 126682108 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0004 | a0001c0004t0187 | a0001c0004t0187g0083 | 1 | 342 | 0.0029 | 15 | c.327 others(32): Show |
LMX1B | ENSG00000136944.19 | transcript | ENST00000373474.9 | protein_coding | 2/7 | chr9 | TogoVar | |||||||
LMX1B_chr9_126608928_126706032 | 126697837 | C | CTGTTTTG others(8): Show |
3_prime_UTR_variant | MODIFIER | HG03239.hp1 HG03453.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0149a0001c0004t0146 | a0001c0001t0149g0335 a0001c0004t0146g0213 |
2 | 342 | 0.0059 | 15 | c.*14 others(26): Show |
LMX1B | ENSG00000136944.19 | transcript | ENST00000373474.9 | protein_coding | 8/8 | 1442 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
LNP1_chr3_100396539_100461319 | 100397496 | T | TTTTTTTA others(8): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 HG02895.hp2 HG02897.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0074 a0001c0001t0005g0295 a0001c0001t0005g0296 others(4): Show |
7 | 398 | 0.0176 | 15 | c.-49 others(26): Show |
LNP1 | ENSG00000206535.8 | transcript | ENST00000383693.8 | protein_coding | 4042 | chr3 | TogoVar | |||||||
LNX1_chr4_53454301_53596486 | 53506856 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp2 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0005others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0005t0001others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0044 others(32): Show |
36 | 356 | 0.1011 | 15 | c.775 others(30): Show |
LNX1 | ENSG00000072201.14 | transcript | ENST00000263925.8 | protein_coding | 4/10 | chr4 | TogoVar | |||||||
LNX1_chr4_53454301_53596486 | 53568580 | C | CGGGCACA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(242): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0014others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 others(238): Show |
245 | 356 | 0.6882 | 15 | c.380 others(32): Show |
LNX1 | ENSG00000072201.14 | transcript | ENST00000263925.8 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
LNX2_chr13_27540913_27625529 | 27588021 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0346 | 1 | 358 | 0.0028 | 15 | c.-10 others(34): Show |
LNX2 | ENSG00000139517.9 | transcript | ENST00000316334.5 | protein_coding | 1/9 | chr13 | TogoVar | |||||||
LNX2_chr13_27540913_27625529 | 27608797 | T | TTTTTGTT others(8): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG01168.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0005a0001c0001t0013a0001c0001t0024others(5): Show | a0001c0001t0005g0027 a0001c0001t0005g0031 a0001c0001t0005g0032 others(31): Show |
34 | 358 | 0.0950 | 15 | c.-10 others(36): Show |
LNX2 | ENSG00000139517.9 | transcript | ENST00000316334.5 | protein_coding | 1/9 | chr13 | TogoVar | |||||||
LOC102723971_chr9_135609183_135624893 | 135617804 | C | CCAGACTG others(8): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0082 | 1 | 450 | 0.0022 | 15 | c.431 others(30): Show |
LOC102723971 | ENSG00000236543.3 | transcript | ENST00000430816.3 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LOC122319436_chr2_222309148_222325155 | 222323430 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 440 | 0.0023 | 15 | c.-33 others(26): Show |
LOC122319436 | ENSG00000288658.2 | transcript | ENST00000678139.2 | protein_coding | 3276 | chr2 | TogoVar | |||||||
LOC122319436_chr2_222309148_222325155 | 222323432 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 440 | 0.0023 | 15 | c.-33 others(26): Show |
LOC122319436 | ENSG00000288658.2 | transcript | ENST00000678139.2 | protein_coding | 3278 | chr2 | TogoVar | |||||||
LOC122319436_chr2_222309148_222325155 | 222323434 | A | AAAAATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 1 | 440 | 0.0023 | 15 | c.-33 others(26): Show |
LOC122319436 | ENSG00000288658.2 | transcript | ENST00000678139.2 | protein_coding | 3280 | chr2 | TogoVar | |||||||
LOC122319436_chr2_222309148_222325155 | 222323434 | A | AAATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0000 | 1 | 440 | 0.0023 | 15 | c.-33 others(26): Show |
LOC122319436 | ENSG00000288658.2 | transcript | ENST00000678139.2 | protein_coding | 3280 | chr2 | TogoVar | |||||||
LOC122319436_chr2_222309148_222325155 | 222323434 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG01081.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0018others(1): Show | a0001c0001t0001g0000 a0001c0001t0012g0000 a0001c0001t0018g0000 others(1): Show |
7 | 440 | 0.0159 | 15 | c.-33 others(26): Show |
LOC122319436 | ENSG00000288658.2 | transcript | ENST00000678139.2 | protein_coding | 3280 | chr2 | TogoVar | |||||||
LOC127898563_chr6_68630890_68640967 | 68640131 | G | GTGACTCC others(8): Show |
downstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 398 | 0.0025 | 15 | c.*41 others(26): Show |
LOC127898563 | ENSG00000288712.1 | transcript | ENST00000683102.1 | protein_coding | 4165 | chr6 | TogoVar | |||||||
LOC127903862_chr6_16323342_16333431 | 16327633 | G | GTGCTGCT others(8): Show |
downstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 430 | 0.0023 | 15 | c.*69 others(24): Show |
LOC127903862 | ENSG00000288708.1 | transcript | ENST00000683730.1 | protein_coding | 708 | chr6 | TogoVar | |||||||
LOC127903862_chr6_16323342_16333431 | 16327684 | A | ATGCTGAT others(8): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 430 | 0.0023 | 15 | c.*65 others(24): Show |
LOC127903862 | ENSG00000288708.1 | transcript | ENST00000683730.1 | protein_coding | 657 | chr6 | TogoVar | |||||||
LOC127903862_chr6_16323342_16333431 | 16327684 | A | ATGCTGCT others(8): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG01978.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 16 | 430 | 0.0372 | 15 | c.*64 others(24): Show |
LOC127903862 | ENSG00000288708.1 | transcript | ENST00000683730.1 | protein_coding | 657 | chr6 | TogoVar | |||||||
LOC128092252_chr15_50643802_50691717 | 50679538 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 388 | 0.0026 | 15 | c.187 others(32): Show |
LOC128092252 | ENSG00000288645.1 | transcript | ENST00000676296.1 | protein_coding | 1/3 | chr15 | TogoVar | |||||||
LOC128092252_chr15_50643802_50691717 | 50682173 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01081.hp2 HG01175.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 others(18): Show |
21 | 388 | 0.0541 | 15 | c.187 others(32): Show |
LOC128092252 | ENSG00000288645.1 | transcript | ENST00000676296.1 | protein_coding | 1/3 | chr15 | TogoVar | |||||||
LOC128092252_chr15_50643802_50691717 | 50682173 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19058.hp2 NA19089.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 a0001c0001t0001g0349 |
2 | 388 | 0.0052 | 15 | c.187 others(32): Show |
LOC128092252 | ENSG00000288645.1 | transcript | ENST00000676296.1 | protein_coding | 1/3 | chr15 | TogoVar | |||||||
LOC128125814_chr12_57512712_57525480 | 57522759 | A | ACGGCGGC others(8): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG02895.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 |
4 | 326 | 0.0123 | 15 | c.-22 others(26): Show |
LOC128125814 | ENSG00000285133.1 | transcript | ENST00000642841.1 | protein_coding | 2280 | chr12 | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89327005 | G | GGGGGAAT others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 366 | 0.0027 | 15 | c.10- others(30): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89327039 | G | GAATGCAG others(8): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 366 | 0.0027 | 15 | c.10- others(30): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89327081 | T | TGGAAATG others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp2 others(223): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(223): Show |
226 | 366 | 0.6175 | 15 | c.10- others(32): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89329995 | A | AAAAATAA others(8): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02965.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0045 a0001c0001t0001g0048 |
3 | 366 | 0.0082 | 15 | c.10- others(32): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89337429 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 366 | 0.0027 | 15 | c.10- others(32): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89384538 | C | CTGGGATG others(8): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 366 | 0.0027 | 15 | c.9+3 others(30): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89384879 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01943.hp1 HG02809.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0245 a0001c0001t0001g0260 others(5): Show |
8 | 366 | 0.0219 | 15 | c.9+3 others(30): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89388293 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03579.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0024 |
2 | 366 | 0.0055 | 15 | c.9+2 others(30): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89415829 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 366 | 0.0027 | 15 | c.9+2 others(28): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LOC128706665_chr20_10408708_10439222 | 10427021 | A | ACTGACAC others(8): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0288 a0001c0001t0002g0294 |
2 | 408 | 0.0049 | 15 | c.-21 others(32): Show |
LOC128706665 | ENSG00000285723.2 | transcript | ENST00000649912.2 | protein_coding | 1/2 | chr20 | TogoVar | |||||||
LOC128706666_chr20_10408708_10439222 | 10427021 | A | ACTGACAC others(8): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0288 a0001c0001t0002g0294 |
2 | 408 | 0.0049 | 15 | c.-27 others(34): Show |
LOC128706666 | ENSG00000285508.2 | transcript | ENST00000713549.1 | protein_coding | 1/2 | chr20 | TogoVar | |||||||
LOC128854680_chr10_75100669_75114157 | 75109811 | G | GTGTTTTG others(8): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG03195.hp2 HG03225.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 a0002c0002t0001g0015 a0002c0002t0001g0016 others(1): Show |
6 | 402 | 0.0149 | 15 | c.-65 others(24): Show |
LOC128854680 | ENSG00000293543.1 | transcript | ENST00000713560.1 | protein_coding | 655 | chr10 | TogoVar | |||||||
LOC128854680_chr10_75100669_75114157 | 75109818 | T | TTTTTGTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(136): Show |
a0002a0005a0008others(1): Show | a0002c0002a0005c0008a0008c0009others(1): Show | a0002c0002t0001a0005c0008t0001a0008c0009t0001others(1): Show | a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0009 others(10): Show |
139 | 402 | 0.3458 | 15 | c.-67 others(24): Show |
LOC128854680 | ENSG00000293543.1 | transcript | ENST00000713560.1 | protein_coding | 662 | chr10 | TogoVar | |||||||
LOC400499_chr16_11367015_11532247 | 11369967 | A | ATATGTGT others(8): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0160 | a0160c0234 | a0160c0234t0004 | a0160c0234t0004g0195 | 1 | 310 | 0.0032 | 15 | c.*27 others(26): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 2047 | chr16 | TogoVar | |||||||
LOC400499_chr16_11367015_11532247 | 11369969 | A | ATATATAT others(8): Show |
downstream_gene_variant | MODIFIER | NA19088.hp1 | a0005 | a0005c0271 | a0005c0271t0003 | a0005c0271t0003g0267 | 1 | 310 | 0.0032 | 15 | c.*27 others(26): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 2045 | chr16 | TogoVar | |||||||
LOC400499_chr16_11367015_11532247 | 11443491 | A | AAAGAGAG others(8): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01346.hp1 HG01358.hp2 others(6): Show |
a0008a0010a0020others(6): Show | a0008c0006a0010c0007a0020c0009others(6): Show | a0008c0006t0005a0010c0007t0004a0020c0009t0002others(6): Show | a0008c0006t0005g0053 a0010c0007t0004g0022 a0020c0009t0002g0052 others(6): Show |
9 | 310 | 0.0290 | 15 | c.483 others(34): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 33/66 | chr16 | TogoVar | |||||||
LOC400499_chr16_11367015_11532247 | 11443491 | A | AGAGAGAG others(8): Show |
intron_variant | MODIFIER | HG01255.hp1 homoSapiens_chm13v2.hp1 |
a0008a0018 | a0008c0006a0018c0016 | a0008c0006t0003a0018c0016t0004 | a0008c0006t0003g0104 a0018c0016t0004g0019 |
2 | 310 | 0.0065 | 15 | c.483 others(34): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 33/66 | chr16 | TogoVar | |||||||
LOC400499_chr16_11367015_11532247 | 11495780 | G | GCAGGAAG others(8): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0149 | a0149c0042 | a0149c0042t0006 | a0149c0042t0006g0034 | 1 | 310 | 0.0032 | 15 | c.124 others(34): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 10/66 | chr16 | TogoVar | |||||||
LOC400499_chr16_11367015_11532247 | 11500511 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02738.hp2 HG02970.hp2 others(6): Show |
a0022a0061a0134others(6): Show | a0022c0095a0061c0225a0134c0263others(6): Show | a0022c0095t0003a0061c0225t0002a0134c0263t0003others(6): Show | a0022c0095t0003g0169 a0061c0225t0002g0018 a0134c0263t0003g0282 others(6): Show |
9 | 310 | 0.0290 | 15 | c.124 others(32): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 10/66 | chr16 | TogoVar | |||||||
LOC400499_chr16_11367015_11532247 | 11530848 | G | GAAGGGTC others(8): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG01891.hp1 HG01891.hp2 others(9): Show |
a0025a0038a0080others(9): Show | a0025c0184a0038c0170a0080c0075others(9): Show | a0025c0184t0004a0038c0170t0003a0080c0075t0002others(9): Show | a0025c0184t0004g0288 a0038c0170t0003g0161 a0080c0075t0002g0015 others(9): Show |
12 | 310 | 0.0387 | 15 | c.-36 others(26): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 3602 | chr16 | TogoVar | |||||||
LOC647264_chr13_63827361_63838053 | 63832049 | A | AAATAATA others(8): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0000 | 1 | 442 | 0.0023 | 15 | c.*61 others(24): Show |
LOC647264 | ENSG00000285566.2 | transcript | ENST00000648713.2 | protein_coding | 311 | chr13 | TogoVar | |||||||
LOC728392_chr17_5494427_5506006 | 5504627 | T | TTAGAATA others(8): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG02622.hp1 HG03225.hp1 others(2): Show |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0007 | 5 | 430 | 0.0116 | 15 | c.-36 others(26): Show |
LOC728392 | ENSG00000286190.2 | transcript | ENST00000568641.2 | protein_coding | 3622 | chr17 | TogoVar | |||||||
LOC93622_chr4_6669075_6681047 | 6673927 | G | GTACGCGT others(8): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG03041.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0000 | 4 | 462 | 0.0087 | 15 | c.-28 others(24): Show |
LOC93622 | ENSG00000170846.17 | transcript | ENST00000635031.2 | protein_coding | 147 | chr4 | TogoVar | |||||||
LONP1_chr19_5686834_5725146 | 5709907 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0343 | 1 | 386 | 0.0026 | 15 | c.871 others(32): Show |
LONP1 | ENSG00000196365.12 | transcript | ENST00000360614.8 | protein_coding | 4/17 | chr19 | TogoVar | |||||||
LONP1_chr19_5686834_5725146 | 5715643 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 386 | 0.0026 | 15 | c.430 others(32): Show |
LONP1 | ENSG00000196365.12 | transcript | ENST00000360614.8 | protein_coding | 1/17 | chr19 | TogoVar |