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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LHFPL5_chr6_35800352_35829070 | 35818333 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0054a0001c0001t0056 | a0001c0001t0054g0045 a0001c0001t0056g0069 |
2 | 161 | 0.0124 | -21 | c.650 others(38): Show |
LHFPL5 | ENSG00000197753.11 | transcript | ENST00000360215.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LHX5_chr12_113457033_113476871 | 113457910 | TTATTCAT others(14): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02109.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0004t0010 | a0001c0001t0005g0019 a0001c0001t0005g0027 a0001c0001t0005g0029 others(2): Show |
9 | 394 | 0.0228 | -21 | c.*52 others(32): Show |
LHX5 | ENSG00000089116.4 | transcript | ENST00000261731.4 | protein_coding | 4122 | chr12 | TogoVar | |||||||
LIAT1_chr17_405325_419666 | 409024 | AAAAAAGA others(14): Show |
A | upstream_gene_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 432 | 0.0023 | -21 | c.-13 others(32): Show |
LIAT1 | ENSG00000187624.9 | transcript | ENST00000360127.7 | protein_coding | 1300 | chr17 | TogoVar | |||||||
LILRB5_chr19_54244421_54262273 | 54261373 | CTGCAACC others(14): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0013 | 1 | 474 | 0.0021 | -21 | c.-42 others(32): Show |
LILRB5 | ENSG00000105609.17 | transcript | ENST00000449561.3 | protein_coding | 4101 | chr19 | TogoVar | |||||||
LIMA1_chr12_50170788_50288520 | 50193585 | GTATATAT others(14): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02897.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0181 a0001c0001t0001g0183 others(2): Show |
5 | 292 | 0.0171 | -21 | c.103 others(40): Show |
LIMA1 | ENSG00000050405.14 | transcript | ENST00000341247.9 | protein_coding | 8/10 | chr12 | TogoVar | |||||||
LIMD1_chr3_45589751_45691341 | 45594776 | TCAACACA others(14): Show |
T | 5_prime_UTR_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0094 | a0001c0001t0094g0254 | 1 | 356 | 0.0028 | -21 | c.-10 others(29): Show |
LIMD1 | ENSG00000144791.10 | transcript | ENST00000273317.5 | protein_coding | 1/8 | 81 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LIMD1_chr3_45589751_45691341 | 45611723 | TCTGAGGC others(14): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG01952.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(3): Show | a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 others(22): Show |
25 | 356 | 0.0702 | -21 | c.140 others(42): Show |
LIMD1 | ENSG00000144791.10 | transcript | ENST00000273317.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LIMS1_chr2_108529470_108692246 | 108549279 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG03239.hp2 HG03491.hp2 HG03834.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0227 a0001c0002t0004g0228 a0001c0002t0004g0245 |
3 | 23 | 0.1304 | -21 | c.32+ others(38): Show |
LIMS1 | ENSG00000169756.17 | transcript | ENST00000544547.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LIMS1_chr2_108529470_108692246 | 108551604 | ATATGTAT others(14): Show |
A | intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0240 | 1 | 244 | 0.0041 | -21 | c.32+ others(38): Show |
LIMS1 | ENSG00000169756.17 | transcript | ENST00000544547.6 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
LIMS1_chr2_108529470_108692246 | 108564956 | GCCCTAGC others(14): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(105): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0003others(2): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0007others(12): Show | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(105): Show |
108 | 244 | 0.4426 | -21 | c.32+ others(38): Show |
LIMS1 | ENSG00000169756.17 | transcript | ENST00000544547.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LIMS1_chr2_108529470_108692246 | 108642337 | TTTTTGTT others(14): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp1 HG01192.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0021 others(10): Show |
13 | 241 | 0.0539 | -21 | c.33- others(38): Show |
LIMS1 | ENSG00000169756.17 | transcript | ENST00000544547.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LIMS2_chr2_127633426_127680530 | 127668691 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0073 | 1 | 346 | 0.0029 | -21 | c.11+ others(36): Show |
LIMS2 | ENSG00000072163.20 | transcript | ENST00000355119.9 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
LIMS2_chr2_127633426_127680530 | 127668693 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG03041.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0035a0001c0002t0021 | a0001c0001t0035g0123 a0001c0002t0021g0070 |
2 | 343 | 0.0058 | -21 | c.11+ others(36): Show |
LIMS2 | ENSG00000072163.20 | transcript | ENST00000355119.9 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
LIN54_chr4_82919603_83015823 | 82922710 | CTTTTTTT others(14): Show |
C | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02630.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0288 a0001c0001t0008g0289 a0001c0001t0008g0290 others(1): Show |
4 | 5 | 0.8000 | -21 | c.*53 others(32): Show |
LIN54 | ENSG00000189308.11 | transcript | ENST00000340417.8 | protein_coding | 1892 | chr4 | TogoVar | |||||||
LINGO2_chr9_27932617_29218601 | 28769510 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0018 | a0001c0001t0010g0001 a0001c0001t0018g0014 |
2 | 62 | 0.0323 | -21 | c.-39 others(42): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
LINGO2_chr9_27932617_29218601 | 28769514 | ATATATTT others(14): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0027 | a0001c0001t0004g0039 a0001c0001t0027g0029 |
2 | 62 | 0.0323 | -21 | c.-39 others(42): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
LINGO2_chr9_27932617_29218601 | 28769516 | ATATTTTT others(14): Show |
A | intron_variant | MODIFIER | HG02922.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0028 | a0001c0001t0008g0040 a0001c0001t0028g0038 |
2 | 57 | 0.0351 | -21 | c.-39 others(42): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
LINGO3_chr19_2282164_2313154 | 2308142 | AGCCGCCG others(14): Show |
A | 5_prime_UTR_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0314 | 1 | 211 | 0.0047 | -21 | c.-13 others(30): Show |
LINGO3 | ENSG00000220008.4 | transcript | ENST00000698372.1 | protein_coding | 1/2 | 16367 | chr19 | TogoVar | ||||||
LIPA_chr10_89208572_89256775 | 89248439 | TTTATATT others(14): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0281 | 1 | 200 | 0.0050 | -21 | c.-1- others(34): Show |
LIPA | ENSG00000107798.18 | transcript | ENST00000336233.10 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
LIPF_chr10_88659442_88683814 | 88679260 | CTATTATT others(14): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(238): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0010a0003c0003others(2): Show | a0001c0001t0001a0002c0010t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(65): Show |
241 | 257 | 0.9377 | -21 | c.*58 others(30): Show |
LIPF | ENSG00000182333.15 | transcript | ENST00000238983.9 | protein_coding | 447 | chr10 | TogoVar | |||||||
LIPI_chr21_14103813_14215955 | 14106197 | AAAAAAAA others(14): Show |
A | downstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0295 | 1 | 328 | 0.0030 | -21 | c.*27 others(32): Show |
LIPI | ENSG00000188992.12 | transcript | ENST00000681601.1 | protein_coding | 2615 | chr21 | TogoVar | |||||||
LIPI_chr21_14103813_14215955 | 14125055 | TAACTTGA others(14): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02886.hp2 NA19030.hp2 |
a0002a0004 | a0002c0007a0004c0003 | a0002c0007t0002a0004c0003t0001 | a0002c0007t0002g0252 a0004c0003t0001g0030 a0004c0003t0001g0117 |
3 | 360 | 0.0083 | -21 | c.129 others(42): Show |
LIPI | ENSG00000188992.12 | transcript | ENST00000681601.1 | protein_coding | 9/9 | chr21 | TogoVar | |||||||
LIPT1_chr2_99149967_99168137 | 99161251 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 310 | 0.0032 | -21 | c.-1- others(34): Show |
LIPT1 | ENSG00000144182.17 | transcript | ENST00000651691.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LIPT1_chr2_99149967_99168137 | 99161272 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 391 | 0.0026 | -21 | c.-1- others(34): Show |
LIPT1 | ENSG00000144182.17 | transcript | ENST00000651691.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LIPT1_chr2_99149967_99168137 | 99161276 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 399 | 0.0025 | -21 | c.-1- others(34): Show |
LIPT1 | ENSG00000144182.17 | transcript | ENST00000651691.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LIPT1_chr2_99149967_99168137 | 99161278 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 372 | 0.0027 | -21 | c.-1- others(34): Show |
LIPT1 | ENSG00000144182.17 | transcript | ENST00000651691.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LIPT1_chr2_99149967_99168137 | 99161280 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 386 | 0.0026 | -21 | c.-1- others(34): Show |
LIPT1 | ENSG00000144182.17 | transcript | ENST00000651691.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LMAN1_chr18_59322823_59364265 | 59323561 | GGTAATAA others(14): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp2 HG03139.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 others(1): Show |
4 | 384 | 0.0104 | -21 | c.*75 others(32): Show |
LMAN1 | ENSG00000074695.6 | transcript | ENST00000251047.6 | protein_coding | 4261 | chr18 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 875974 | CACACCCC others(14): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02486.hp1 others(1): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0001a0001c0006t0001 | a0001c0004t0001g0072 a0001c0006t0001g0286 a0001c0006t0001g0289 others(1): Show |
4 | 292 | 0.0137 | -21 | c.897 others(38): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 6/10 | chr16 | TogoVar | |||||||
LMLN_chr3_197955217_198048720 | 198039034 | ACCAACCA others(14): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01175.hp1 HG01884.hp2 HG01934.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0015a0002c0002t0028a0002c0002t0029others(1): Show | a0002c0002t0015g0032 a0002c0002t0015g0036 a0002c0002t0015g0037 others(3): Show |
6 | 256 | 0.0234 | -21 | c.*38 others(30): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 17/17 | 383 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LMLN_chr3_197955217_198048720 | 198039080 | ACACCTTC others(14): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02572.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0031 | a0002c0002t0007g0020 a0002c0002t0007g0040 a0002c0002t0007g0041 others(5): Show |
8 | 256 | 0.0313 | -21 | c.*42 others(30): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 17/17 | 424 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LMNTD1_chr12_25471082_25558283 | 25517707 | GAATAATA others(14): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(295): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0004a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0016 others(278): Show |
298 | 300 | 0.9933 | -21 | c.118 others(40): Show |
LMNTD1 | ENSG00000152936.11 | transcript | ENST00000458174.7 | protein_coding | 8/9 | chr12 | TogoVar | |||||||
LMO1_chr11_8219309_8268878 | 8223028 | CTGGGCTG others(14): Show |
C | downstream_gene_variant | MODIFIER | HG01346.hp1 HG02559.hp1 HG02809.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0044 a0001c0001t0001g0061 a0001c0001t0001g0062 others(7): Show |
10 | 209 | 0.0478 | -21 | c.*15 others(32): Show |
LMO1 | ENSG00000166407.14 | transcript | ENST00000335790.8 | protein_coding | 1280 | chr11 | TogoVar | |||||||
LMX1B_chr9_126608928_126706032 | 126698088 | TGGTCTCC others(14): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG01934.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0042a0001c0001t0098others(3): Show | a0001c0001t0005g0221 a0001c0001t0005g0258 a0001c0001t0005g0275 others(9): Show |
12 | 340 | 0.0353 | -21 | c.*16 others(32): Show |
LMX1B | ENSG00000136944.19 | transcript | ENST00000373474.9 | protein_coding | 8/8 | 1641 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
LNPEP_chr5_96931080_97042513 | 96958460 | TCCACTAA others(14): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0050 | a0001c0003t0050g0187 | 1 | 350 | 0.0029 | -21 | c.20- others(38): Show |
LNPEP | ENSG00000113441.16 | transcript | ENST00000231368.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
LOC112694756_chr16_30048151_30075414 | 30065698 | AGGAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 330 | 0.0030 | -21 | c.*48 others(40): Show |
LOC112694756 | ENSG00000285043.3 | transcript | ENST00000338110.11 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
LOC127903862_chr6_16323342_16333431 | 16327633 | GTGCTGCT others(14): Show |
G | downstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 86 | 0.0116 | -21 | c.*68 others(30): Show |
LOC127903862 | ENSG00000288708.1 | transcript | ENST00000683730.1 | protein_coding | 708 | chr6 | TogoVar | |||||||
LOC127903862_chr6_16323342_16333431 | 16327663 | CTGCTGCT others(14): Show |
C | downstream_gene_variant | MODIFIER | HG01928.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 428 | 0.0047 | -21 | c.*65 others(30): Show |
LOC127903862 | ENSG00000288708.1 | transcript | ENST00000683730.1 | protein_coding | 678 | chr6 | TogoVar | |||||||
LOC128092252_chr15_50643802_50691717 | 50679501 | GTATATAT others(14): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01255.hp1 HG02145.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0183 others(4): Show |
7 | 381 | 0.0184 | -21 | c.187 others(38): Show |
LOC128092252 | ENSG00000288645.1 | transcript | ENST00000676296.1 | protein_coding | 1/3 | chr15 | TogoVar | |||||||
LOC400499_chr16_11367015_11532247 | 11382620 | AGTATTTT others(14): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00735.hp1 others(64): Show |
a0008a0012a0013others(60): Show | a0008c0006a0012c0028a0013c0116others(60): Show | a0008c0006t0005a0012c0028t0002a0013c0116t0005others(60): Show | a0008c0006t0005g0053 a0012c0028t0002g0043 a0012c0028t0002g0099 others(64): Show |
67 | 308 | 0.2175 | -21 | c.995 others(40): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 66/66 | chr16 | TogoVar | |||||||
LONP1_chr19_5686834_5725146 | 5687200 | CCTGGCCC others(14): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02486.hp1 HG02970.hp1 others(4): Show |
a0001a0019 | a0001c0002a0019c0029 | a0001c0002t0001a0019c0029t0001 | a0001c0002t0001g0106 a0001c0002t0001g0337 a0001c0002t0001g0338 others(4): Show |
7 | 383 | 0.0183 | -21 | c.*48 others(32): Show |
LONP1 | ENSG00000196365.12 | transcript | ENST00000360614.8 | protein_coding | 4633 | chr19 | TogoVar | |||||||
LONP1_chr19_5686834_5725146 | 5715643 | TAAAAAAA others(14): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG03688.hp1 NA18966.hp2 others(1): Show |
a0001 | a0001c0001a0001c0020 | a0001c0001t0001a0001c0020t0001 | a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 others(1): Show |
4 | 85 | 0.0471 | -21 | c.430 others(38): Show |
LONP1 | ENSG00000196365.12 | transcript | ENST00000360614.8 | protein_coding | 1/17 | chr19 | TogoVar | |||||||
LOXHD1_chr18_46472273_46662220 | 46653584 | CAGCACAA others(14): Show |
C | intron_variant | MODIFIER | NA19070.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0152 | 1 | 268 | 0.0037 | -21 | c.130 others(38): Show |
LOXHD1 | ENSG00000167210.17 | transcript | ENST00000642948.1 | protein_coding | 1/40 | chr18 | TogoVar | |||||||
LOXL2_chr8_23291897_23409120 | 23363728 | ACTTCCAT others(14): Show |
A | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0154 | 1 | 346 | 0.0029 | -21 | c.356 others(38): Show |
LOXL2 | ENSG00000134013.16 | transcript | ENST00000389131.8 | protein_coding | 2/13 | chr8 | TogoVar | |||||||
LOXL2_chr8_23291897_23409120 | 23371751 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG03491.hp2 HG03927.hp1 NA20752.hp2 |
a0001a0002 | a0001c0002a0001c0003a0002c0022 | a0001c0002t0001a0001c0003t0001a0002c0022t0003 | a0001c0002t0001g0163 a0001c0003t0001g0162 a0002c0022t0003g0300 |
3 | 41 | 0.0732 | -21 | c.-83 others(38): Show |
LOXL2 | ENSG00000134013.16 | transcript | ENST00000389131.8 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
LOXL4_chr10_98242690_98273194 | 98265371 | CTATTATT others(14): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0088 | 1 | 179 | 0.0056 | -21 | c.-32 others(38): Show |
LOXL4 | ENSG00000138131.4 | transcript | ENST00000260702.4 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
LPA_chr6_160526482_160669275 | 160584170 | TTTCTTCT others(14): Show |
T | intron_variant | MODIFIER | HG02165.hp2 HG03239.hp1 NA18906.hp1 others(2): Show |
a0002a0003a0030 | a0002c0002a0003c0003a0003c0008others(1): Show | a0002c0002t0002a0003c0003t0001a0003c0008t0001others(1): Show | a0002c0002t0002g0001 a0003c0003t0001g0074 a0003c0003t0001g0090 others(2): Show |
5 | 69 | 0.0725 | -21 | c.428 others(38): Show |
LPA | ENSG00000198670.13 | transcript | ENST00000316300.10 | protein_coding | 26/38 | chr6 | TogoVar | |||||||
LPA_chr6_160526482_160669275 | 160584219 | TTCTTCTT others(14): Show |
T | intron_variant | MODIFIER | HG02027.hp2 HG02132.hp2 HG02738.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0048 | a0001c0001t0002a0004c0048t0002 | a0001c0001t0002g0027 a0001c0001t0002g0035 a0001c0001t0002g0036 others(2): Show |
5 | 146 | 0.0342 | -21 | c.428 others(38): Show |
LPA | ENSG00000198670.13 | transcript | ENST00000316300.10 | protein_coding | 26/38 | chr6 | TogoVar | |||||||
LPP_chr3_188149157_188895671 | 188649555 | CTGAGCTA others(14): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG03195.hp2 HG03540.hp1 others(1): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0029a0002c0003t0051a0002c0004t0004others(1): Show | a0002c0003t0029g0064 a0002c0003t0051g0014 a0002c0004t0004g0038 others(1): Show |
4 | 74 | 0.0541 | -21 | c.111 others(42): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LPP_chr3_188149157_188895671 | 188755809 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0073 | 1 | 31 | 0.0323 | -21 | c.124 others(40): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |