| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LRRC45_chr17_82018305_82036151 | 82021217 | GGTCCAGC others(10): Show |
G | upstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 2 | 408 | 0.0049 | -17 | c.-24 others(28): Show |
LRRC45 | ENSG00000169683.8 | transcript | ENST00000306688.8 | protein_coding | 2087 | chr17 | TogoVar | ||||||
| LRRC4B_chr19_50511892_50573435 | 50520234 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG01081.hp1 HG01433.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0060a0001c0001t0001g0066a0001c0001t0001g0084others(19): Show | 22 | 360 | 0.0611 | -17 | c.298 others(32): Show |
LRRC4B | ENSG00000131409.13 | transcript | ENST00000652263.1 | protein_coding | 2/2 | chr19 | TogoVar | ||||||
| LRRC4C_chr11_40109209_41464652 | 40495813 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01261.hp1 HG01261.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0013others(13): Show | 16 | 48 | 0.3333 | -17 | c.-27 others(40): Show |
LRRC4C | ENSG00000148948.8 | transcript | ENST00000528697.6 | protein_coding | 3/6 | chr11 | TogoVar | ||||||
| LRRC4C_chr11_40109209_41464652 | 40665322 | AAAAATAT others(10): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 | 1 | 48 | 0.0208 | -17 | c.-40 others(38): Show |
LRRC4C | ENSG00000148948.8 | transcript | ENST00000528697.6 | protein_coding | 2/6 | chr11 | TogoVar | ||||||
| LRRC4C_chr11_40109209_41464652 | 40987664 | GAGATATA others(10): Show |
G | intron_variant | MODIFIER | HG02970.hp2 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0037a0001c0001t0002g0009 | 2 | 48 | 0.0417 | -17 | c.-49 others(38): Show |
LRRC4C | ENSG00000148948.8 | transcript | ENST00000528697.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
| LRRC53_chr1_74464376_74517611 | 74500603 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02083.hp2 HG02129.hp2 HG02809.hp1 others(5): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0003c0005others(1): Show | a0001c0001t0001a0003c0004t0001a0003c0005t0001others(1): Show | a0001c0001t0001g0195a0001c0001t0001g0321a0003c0004t0001g0315others(5): Show | 8 | 342 | 0.0234 | -17 | c.-27 others(36): Show |
LRRC53 | ENSG00000162621.7 | transcript | ENST00000294635.5 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
| LRRC69_chr8_91097619_91224257 | 91118351 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02004.hp1 NA18944.hp2 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255a0001c0001t0001g0256a0001c0001t0001g0257 | 3 | 318 | 0.0094 | -17 | c.184 others(34): Show |
LRRC69 | ENSG00000214954.9 | transcript | ENST00000448384.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| LRRC69_chr8_91097619_91224257 | 91222311 | AAACAGAA others(10): Show |
A | downstream_gene_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0275 | 1 | 318 | 0.0031 | -17 | c.*33 others(28): Show |
LRRC69 | ENSG00000214954.9 | transcript | ENST00000448384.3 | protein_coding | 3055 | chr8 | TogoVar | ||||||
| LRRC72_chr7_16521825_16586568 | 16540823 | CTGAGGCC others(10): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 410 | 0.0024 | -17 | c.234 others(34): Show |
LRRC72 | ENSG00000205858.10 | transcript | ENST00000401542.3 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| LRRC74A_chr14_76821408_76875304 | 76838470 | TTTATCTA others(10): Show |
T | intron_variant | MODIFIER | HG02293.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0075a0001c0001t0003g0076 | 2 | 408 | 0.0049 | -17 | c.544 others(32): Show |
LRRC74A | ENSG00000100565.16 | transcript | ENST00000689127.1 | protein_coding | 5/13 | chr14 | TogoVar | ||||||
| LRRC7_chr1_69562922_70149364 | 69871065 | AATGTTAT others(10): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01515.hp2 HG02055.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(12): Show | a0001c0001t0001g0079a0001c0001t0001g0087a0001c0001t0003g0022others(14): Show | 17 | 108 | 0.1574 | -17 | c.647 others(36): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| LRRC7_chr1_69562922_70149364 | 69919955 | AGGGGGCC others(10): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0029 | 1 | 108 | 0.0093 | -17 | c.648 others(36): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| LRRC8B_chr1_89519829_89602861 | 89541710 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 324 | 0.0031 | -17 | c.-24 others(38): Show |
LRRC8B | ENSG00000197147.15 | transcript | ENST00000330947.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| LRRC8D_chr1_89816032_89941611 | 89900417 | TTTTCTTA others(10): Show |
T | intron_variant | MODIFIER | HG03195.hp2 HG03453.hp2 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0150a0001c0001t0001g0203a0001c0001t0009g0139 | 3 | 210 | 0.0143 | -17 | c.-2- others(34): Show |
LRRC8D | ENSG00000171492.14 | transcript | ENST00000337338.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| LRRC9_chr14_59915144_60071817 | 59965882 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0116 | 1 | 322 | 0.0031 | -17 | c.121 others(34): Show |
LRRC9 | ENSG00000131951.12 | transcript | ENST00000570145.2 | protein_coding | 10/32 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| LRRC9_chr14_59915144_60071817 | 59979536 | CGGGAGGC others(10): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00735.hp1 others(7): Show |
a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0209a0001c0004t0009g0210a0001c0004t0009g0302others(7): Show | 10 | 322 | 0.0311 | -17 | c.187 others(36): Show |
LRRC9 | ENSG00000131951.12 | transcript | ENST00000570145.2 | protein_coding | 15/32 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| LRRIQ3_chr1_74021015_74203176 | 74022362 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG02080.hp2 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059a0001c0001t0002g0066 | 2 | 274 | 0.0073 | -17 | c.*44 others(28): Show |
LRRIQ3 | ENSG00000162620.16 | transcript | ENST00000354431.9 | protein_coding | 3652 | chr1 | TogoVar | ||||||
| LRRK1_chr15_100914357_101083257 | 100933821 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01167.hp1 | a0006 | a0006c0027 | a0006c0027t0021 | a0006c0027t0021g0114 | 1 | 338 | 0.0030 | -17 | c.97+ others(32): Show |
LRRK1 | ENSG00000154237.13 | transcript | ENST00000388948.8 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| LRRK1_chr15_100914357_101083257 | 100968707 | CTTCCTTC others(10): Show |
C | intron_variant | MODIFIER | HG03471.hp2 HG03540.hp2 |
a0001a0014 | a0001c0008a0014c0053 | a0001c0008t0051a0014c0053t0009 | a0001c0008t0051g0271a0014c0053t0009g0106 | 2 | 338 | 0.0059 | -17 | c.98- others(32): Show |
LRRK1 | ENSG00000154237.13 | transcript | ENST00000388948.8 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| LRRK1_chr15_100914357_101083257 | 101047686 | CCAGCCCG others(10): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02818.hp1 NA19030.hp1 others(2): Show |
a0001 | a0001c0002a0001c0025a0001c0067others(1): Show | a0001c0002t0223a0001c0025t0221a0001c0025t0263others(2): Show | a0001c0002t0223g0085a0001c0025t0221g0108a0001c0025t0263g0137others(2): Show | 5 | 338 | 0.0148 | -17 | c.313 others(34): Show |
LRRK1 | ENSG00000154237.13 | transcript | ENST00000388948.8 | protein_coding | 21/33 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| LRRN2_chr1_204612170_204690738 | 204631262 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02257.hp1 NA20805.hp1 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0016t0001 | a0001c0001t0001g0222a0001c0016t0001g0032 | 2 | 328 | 0.0061 | -17 | c.-22 others(38): Show |
LRRN2 | ENSG00000170382.12 | transcript | ENST00000367177.4 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
| LRRN4_chr20_6035546_6059060 | 6039260 | TTTGTGTG others(10): Show |
T | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01361.hp1 HG01515.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0028 | 5 | 402 | 0.0124 | -17 | c.*17 others(28): Show |
LRRN4 | ENSG00000125872.9 | transcript | ENST00000378858.5 | protein_coding | 1285 | chr20 | TogoVar | ||||||
| LRRTM1_chr2_80296878_80309752 | 80306395 | TTTTCTTT others(10): Show |
T | upstream_gene_variant | MODIFIER | HG03017.hp1 NA19086.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006 | a0002c0002t0001g0002a0002c0002t0006g0013 | 2 | 418 | 0.0048 | -17 | c.-23 others(28): Show |
LRRTM1 | ENSG00000162951.11 | transcript | ENST00000295057.4 | protein_coding | 1644 | chr2 | TogoVar | ||||||
| LRRTM3_chr10_66921036_67106551 | 67100260 | GGAACCAC others(10): Show |
G | 3_prime_UTR_variant | MODIFIER | NA18970.hp2 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0096 | 1 | 294 | 0.0034 | -17 | c.*24 others(28): Show |
LRRTM3 | ENSG00000198739.11 | transcript | ENST00000361320.5 | protein_coding | 3/3 | 2465 | chr10 | TogoVar | |||||
| LRRTM4_chr2_76742685_77527376 | 76816819 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp2 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(71): Show | 74 | 128 | 0.5781 | -17 | c.155 others(38): Show |
LRRTM4 | ENSG00000176204.14 | transcript | ENST00000409884.6 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
| LRRTM4_chr2_76742685_77527376 | 77289372 | ATTGTACC others(10): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 128 | 0.0078 | -17 | c.155 others(40): Show |
LRRTM4 | ENSG00000176204.14 | transcript | ENST00000409884.6 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
| LRRTM4_chr2_76742685_77527376 | 77469703 | CTGTATAG others(10): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 128 | 0.0078 | -17 | c.155 others(38): Show |
LRRTM4 | ENSG00000176204.14 | transcript | ENST00000409884.6 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
| LRSAM1_chr9_127446510_127508499 | 127466494 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 340 | 0.0029 | -17 | c.529 others(34): Show |
LRSAM1 | ENSG00000148356.15 | transcript | ENST00000300417.11 | protein_coding | 9/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| LRTM2_chr12_1815565_1841753 | 1816437 | TTCCTGCC others(10): Show |
T | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG01952.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0002g0186a0001c0001t0002g0380a0001c0001t0003g0036others(16): Show | 20 | 462 | 0.0433 | -17 | c.-46 others(28): Show |
LRTM2 | ENSG00000166159.11 | transcript | ENST00000299194.6 | protein_coding | 4127 | chr12 | TogoVar | ||||||
| LRWD1_chr7_102459984_102478168 | 102461358 | TGTTTGTT others(10): Show |
T | upstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 428 | 0.0023 | -17 | c.-37 others(28): Show |
LRWD1 | ENSG00000161036.13 | transcript | ENST00000292616.10 | protein_coding | 3625 | chr7 | TogoVar | ||||||
| LRWD1_chr7_102459984_102478168 | 102465488 | GCTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02148.hp1 others(2): Show |
a0001a0002a0007 | a0001c0005a0002c0004a0007c0011 | a0001c0005t0001a0002c0004t0002a0007c0011t0001 | a0001c0005t0001g0101a0001c0005t0001g0104a0002c0004t0002g0100others(2): Show | 5 | 428 | 0.0117 | -17 | c.81- others(30): Show |
LRWD1 | ENSG00000161036.13 | transcript | ENST00000292616.10 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
| LRWD1_chr7_102459984_102478168 | 102466760 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG00738.hp2 others(31): Show |
a0001a0003 | a0001c0003a0003c0017 | a0001c0003t0001a0001c0003t0002a0003c0017t0001 | a0001c0003t0001g0004a0001c0003t0001g0008a0001c0003t0001g0016others(16): Show | 34 | 428 | 0.0794 | -17 | c.432 others(32): Show |
LRWD1 | ENSG00000161036.13 | transcript | ENST00000292616.10 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| LSM12_chr17_44029328_44071671 | 44039365 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0029 | 1 | 298 | 0.0034 | -17 | c.368 others(32): Show |
LSM12 | ENSG00000161654.10 | transcript | ENST00000293406.8 | protein_coding | 3/4 | chr17 | TogoVar | ||||||
| LSM12_chr17_44029328_44071671 | 44041279 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 298 | 0.0034 | -17 | c.259 others(34): Show |
LSM12 | ENSG00000161654.10 | transcript | ENST00000293406.8 | protein_coding | 2/4 | chr17 | TogoVar | ||||||
| LSM12_chr17_44029328_44071671 | 44041283 | AAAAACAA others(10): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0279 | 1 | 298 | 0.0034 | -17 | c.259 others(34): Show |
LSM12 | ENSG00000161654.10 | transcript | ENST00000293406.8 | protein_coding | 2/4 | chr17 | TogoVar | ||||||
| LSM14A_chr19_34167504_34234288 | 34192632 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01981.hp2 HG02056.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(5): Show | a0001c0001t0002g0014a0001c0001t0004g0013a0001c0001t0009g0042others(6): Show | 9 | 315 | 0.0286 | -17 | c.122 others(34): Show |
LSM14A | ENSG00000257103.9 | transcript | ENST00000544216.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| LSM3_chr3_14173817_14206122 | 14194775 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0159 | 1 | 396 | 0.0025 | -17 | c.229 others(34): Show |
LSM3 | ENSG00000170860.4 | transcript | ENST00000306024.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| LSP1_chr11_1848084_1897263 | 1873813 | AGCAGAGG others(10): Show |
A | intron_variant | MODIFIER | HG00438.hp2 NA18946.hp2 NA19085.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0018a0002c0001t0001g0076 | 3 | 360 | 0.0083 | -17 | c.54- others(32): Show |
LSP1 | ENSG00000130592.17 | transcript | ENST00000311604.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| LSP1_chr11_1848084_1897263 | 1873871 | GAGGGAGG others(10): Show |
G | intron_variant | MODIFIER | NA18948.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0142 | 1 | 360 | 0.0028 | -17 | c.54- others(32): Show |
LSP1 | ENSG00000130592.17 | transcript | ENST00000311604.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| LSR_chr19_35244002_35272964 | 35250167 | CACTGGTC others(10): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG02083.hp1 HG02129.hp2 others(8): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0055a0002c0001t0001g0056a0002c0001t0001g0206others(6): Show | 11 | 438 | 0.0251 | -17 | c.110 others(32): Show |
LSR | ENSG00000105699.17 | transcript | ENST00000605618.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| LSS_chr21_46183446_46233774 | 46183499 | AGGGGAGA others(10): Show |
A | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01243.hp1 others(5): Show |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0026 | a0001c0004t0003g0003a0001c0004t0003g0007a0001c0004t0003g0142others(1): Show | 8 | 358 | 0.0224 | -17 | c.*75 others(28): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 4946 | chr21 | TogoVar | ||||||
| LSS_chr21_46183446_46233774 | 46183956 | GGAGGAGA others(10): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00544.hp2 others(84): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0001a0001c0004t0003a0001c0005t0006others(14): Show | a0001c0001t0001g0027a0001c0004t0003g0025a0001c0005t0006g0261others(65): Show | 87 | 358 | 0.2430 | -17 | c.*71 others(28): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 4489 | chr21 | TogoVar | ||||||
| LTBP1_chr2_32941953_33404509 | 33277759 | CCCTTTCT others(10): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00741.hp2 others(16): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0009a0001c0002t0006a0001c0004t0004others(12): Show | a0001c0001t0009g0050a0001c0002t0006g0125a0001c0004t0004g0119others(16): Show | 19 | 164 | 0.1159 | -17 | c.299 others(36): Show |
LTBP1 | ENSG00000049323.16 | transcript | ENST00000404816.7 | protein_coding | 18/33 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| LTBP1_chr2_32941953_33404509 | 33382074 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01258.hp1 others(5): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0007a0001c0002t0001a0001c0004t0015others(3): Show | a0001c0001t0007g0001a0001c0002t0001g0059a0001c0004t0015g0010others(5): Show | 8 | 164 | 0.0488 | -17 | c.471 others(36): Show |
LTBP1 | ENSG00000049323.16 | transcript | ENST00000404816.7 | protein_coding | 31/33 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| LTBP1_chr2_32941953_33404509 | 33400916 | AAAAAAAA others(10): Show |
A | downstream_gene_variant | MODIFIER | HG02451.hp1 HG03139.hp2 HG03471.hp2 others(1): Show |
a0001a0002a0012 | a0001c0048a0002c0009a0012c0041 | a0001c0048t0010a0002c0009t0001a0012c0041t0008 | a0001c0048t0010g0092a0002c0009t0001g0157a0002c0009t0001g0158others(1): Show | 4 | 164 | 0.0244 | -17 | c.*23 others(28): Show |
LTBP1 | ENSG00000049323.16 | transcript | ENST00000404816.7 | protein_coding | 1408 | chr2 | TogoVar | ||||||
| LTBP4_chr19_40596369_40634818 | 40625275 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG03654.hp1 NA18943.hp2 |
a0002 | a0002c0039a0002c0042 | a0002c0039t0001a0002c0042t0001 | a0002c0039t0001g0035a0002c0042t0001g0281 | 2 | 338 | 0.0059 | -17 | c.383 others(34): Show |
LTBP4 | ENSG00000090006.18 | transcript | ENST00000396819.8 | protein_coding | 26/29 | chr19 | TogoVar | ||||||
| LTBP4_chr19_40596369_40634818 | 40625277 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01993.hp1 HG02970.hp1 others(1): Show |
a0002a0016 | a0002c0002a0016c0044 | a0002c0002t0001a0016c0044t0001 | a0002c0002t0001g0034a0002c0002t0001g0232a0002c0002t0001g0279others(1): Show | 4 | 338 | 0.0118 | -17 | c.383 others(34): Show |
LTBP4 | ENSG00000090006.18 | transcript | ENST00000396819.8 | protein_coding | 26/29 | chr19 | TogoVar | ||||||
| LTBP4_chr19_40596369_40634818 | 40625279 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0043 | a0002c0043t0001 | a0002c0043t0001g0237 | 1 | 338 | 0.0030 | -17 | c.383 others(34): Show |
LTBP4 | ENSG00000090006.18 | transcript | ENST00000396819.8 | protein_coding | 26/29 | chr19 | TogoVar | ||||||
| LTBP4_chr19_40596369_40634818 | 40625281 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02717.hp1 HG02809.hp1 others(4): Show |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0003a0002c0002t0001 | a0001c0006t0003g0014a0001c0006t0003g0124a0001c0006t0003g0291others(3): Show | 7 | 338 | 0.0207 | -17 | c.383 others(34): Show |
LTBP4 | ENSG00000090006.18 | transcript | ENST00000396819.8 | protein_coding | 26/29 | chr19 | TogoVar | ||||||
| LTBP4_chr19_40596369_40634818 | 40625283 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0278 | 1 | 338 | 0.0030 | -17 | c.383 others(34): Show |
LTBP4 | ENSG00000090006.18 | transcript | ENST00000396819.8 | protein_coding | 26/29 | chr19 | TogoVar |