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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LRRC4C_chr11_40109209_41464652 | 40984367 | GAAAGAAA others(12): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0015a0001c0001t0002g0043a0001c0002t0001g0010others(3): Show | 6 | 48 | 0.1250 | -19 | c.-49 others(40): Show |
LRRC4C | ENSG00000148948.8 | transcript | ENST00000528697.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
LRRC53_chr1_74464376_74517611 | 74500603 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG02055.hp2 HG02145.hp1 others(5): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0047a0001c0001t0001g0084a0001c0001t0001g0107others(5): Show | 8 | 342 | 0.0234 | -19 | c.-27 others(38): Show |
LRRC53 | ENSG00000162621.7 | transcript | ENST00000294635.5 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
LRRC69_chr8_91097619_91224257 | 91118351 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG03942.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124a0001c0001t0001g0308a0001c0001t0001g0309 | 3 | 318 | 0.0094 | -19 | c.184 others(36): Show |
LRRC69 | ENSG00000214954.9 | transcript | ENST00000448384.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
LRRC74A_chr14_76821408_76875304 | 76843287 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG04184.hp2 | a0007 | a0007c0025 | a0007c0025t0001 | a0007c0025t0001g0394 | 1 | 408 | 0.0025 | -19 | c.545 others(36): Show |
LRRC74A | ENSG00000100565.16 | transcript | ENST00000689127.1 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
LRRC74A_chr14_76821408_76875304 | 76869064 | TCCCTGTG others(12): Show |
T | intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 408 | 0.0025 | -19 | c.139 others(38): Show |
LRRC74A | ENSG00000100565.16 | transcript | ENST00000689127.1 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
LRRC74A_chr14_76821408_76875304 | 76869068 | TGTGCCTC others(12): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(148): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0007a0001c0008others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0010others(144): Show | 151 | 408 | 0.3701 | -19 | c.139 others(36): Show |
LRRC74A | ENSG00000100565.16 | transcript | ENST00000689127.1 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
LRRC7_chr1_69562922_70149364 | 69797557 | ACTCCTGC others(12): Show |
A | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0055 | 1 | 108 | 0.0093 | -19 | c.421 others(36): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRC8B_chr1_89519829_89602861 | 89541710 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | NA19063.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0192 | 1 | 324 | 0.0031 | -19 | c.-24 others(40): Show |
LRRC8B | ENSG00000197147.15 | transcript | ENST00000330947.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRC8C_chr1_89628120_89724533 | 89677164 | TAGGTAGA others(12): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02615.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0023a0001c0001t0033 | a0001c0001t0007g0026a0001c0001t0007g0027a0001c0001t0007g0028others(2): Show | 5 | 268 | 0.0187 | -19 | c.-4- others(34): Show |
LRRC8C | ENSG00000171488.15 | transcript | ENST00000370454.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRD1_chr7_92139842_92184142 | 92174493 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 360 | 0.0028 | -19 | c.-75 others(36): Show |
LRRD1 | ENSG00000240720.10 | transcript | ENST00000458448.6 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
LRRD1_chr7_92139842_92184142 | 92174495 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | NA18973.hp2 NA19070.hp2 NA19072.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0155 | 3 | 360 | 0.0083 | -19 | c.-75 others(36): Show |
LRRD1 | ENSG00000240720.10 | transcript | ENST00000458448.6 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
LRRIQ3_chr1_74021015_74203176 | 74022362 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp1 NA18992.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0068a0001c0001t0003g0149 | 2 | 274 | 0.0073 | -19 | c.*44 others(30): Show |
LRRIQ3 | ENSG00000162620.16 | transcript | ENST00000354431.9 | protein_coding | 3652 | chr1 | TogoVar | ||||||
LRRIQ3_chr1_74021015_74203176 | 74103081 | TAAAAACC others(12): Show |
T | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0203 | 1 | 274 | 0.0037 | -19 | c.867 others(36): Show |
LRRIQ3 | ENSG00000162620.16 | transcript | ENST00000354431.9 | protein_coding | 5/7 | chr1 | TogoVar | ||||||
LRRIQ3_chr1_74021015_74203176 | 74154240 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 274 | 0.0037 | -19 | c.707 others(36): Show |
LRRIQ3 | ENSG00000162620.16 | transcript | ENST00000354431.9 | protein_coding | 4/7 | chr1 | TogoVar | ||||||
LRRIQ4_chr3_169807870_169842773 | 169830377 | GAAAAAAA others(12): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02922.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0002 | 4 | 386 | 0.0104 | -19 | c.119 others(35): Show |
LRRIQ4 | ENSG00000188306.7 | transcript | ENST00000340806.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LRRK1_chr15_100914357_101083257 | 101008142 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02109.hp1 others(16): Show |
a0001a0002a0004others(2): Show | a0001c0010a0001c0011a0001c0013others(9): Show | a0001c0010t0260a0001c0011t0016a0001c0011t0090others(15): Show | a0001c0010t0260g0121a0001c0011t0016g0093a0001c0011t0016g0167others(16): Show | 19 | 338 | 0.0562 | -19 | c.763 others(34): Show |
LRRK1 | ENSG00000154237.13 | transcript | ENST00000388948.8 | protein_coding | 6/33 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
LRRTM1_chr2_80296878_80309752 | 80306405 | TTTCTTTC others(12): Show |
T | upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | -19 | c.-23 others(30): Show |
LRRTM1 | ENSG00000162951.11 | transcript | ENST00000295057.4 | protein_coding | 1654 | chr2 | TogoVar | ||||||
LSAMP_chr3_115797374_116450487 | 115837442 | CAAACGCT others(12): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01361.hp2 HG01433.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0003g0007a0001c0001t0003g0023a0001c0001t0003g0078others(19): Show | 22 | 104 | 0.2115 | -19 | c.919 others(36): Show |
LSAMP | ENSG00000185565.13 | transcript | ENST00000490035.7 | protein_coding | 6/6 | chr3 | TogoVar | ||||||
LSAMP_chr3_115797374_116450487 | 116031538 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 104 | 0.0096 | -19 | c.389 others(38): Show |
LSAMP | ENSG00000185565.13 | transcript | ENST00000490035.7 | protein_coding | 2/6 | chr3 | TogoVar | ||||||
LSAMP_chr3_115797374_116450487 | 116164684 | ATCCAAAT others(12): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0013 | 1 | 104 | 0.0096 | -19 | c.156 others(38): Show |
LSAMP | ENSG00000185565.13 | transcript | ENST00000490035.7 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
LSM3_chr3_14173817_14206122 | 14180821 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 396 | 0.0025 | -19 | c.22- others(32): Show |
LSM3 | ENSG00000170860.4 | transcript | ENST00000306024.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LSM3_chr3_14173817_14206122 | 14180839 | TTTTTTTT others(12): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02559.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0016a0001c0001t0015g0087 | 5 | 396 | 0.0126 | -19 | c.22- others(32): Show |
LSM3 | ENSG00000170860.4 | transcript | ENST00000306024.4 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
LSM8_chr7_118179164_118209035 | 118181584 | GTTAAAAA others(12): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0003 | 1 | 414 | 0.0024 | -19 | c.-26 others(30): Show |
LSM8 | ENSG00000128534.8 | transcript | ENST00000249299.7 | protein_coding | 2579 | chr7 | TogoVar | ||||||
LSM8_chr7_118179164_118209035 | 118183971 | GAGGCTTC others(12): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0114 | a0001c0001t0006g0003a0001c0001t0114g0003 | 2 | 414 | 0.0048 | -19 | c.-25 others(28): Show |
LSM8 | ENSG00000128534.8 | transcript | ENST00000249299.7 | protein_coding | 192 | chr7 | TogoVar | ||||||
LSM8_chr7_118179164_118209035 | 118203426 | CTGTAGAC others(12): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02630.hp2 HG02886.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0016a0001c0002t0044 | a0001c0002t0016g0009a0001c0002t0016g0037a0001c0002t0044g0009 | 8 | 414 | 0.0193 | -19 | c.*11 others(32): Show |
LSM8 | ENSG00000128534.8 | transcript | ENST00000249299.7 | protein_coding | 4/4 | 11425 | chr7 | TogoVar | |||||
LSP1_chr11_1848084_1897263 | 1862765 | GCCTCCCC others(12): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(240): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0018others(12): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0008others(16): Show | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0005others(183): Show | 243 | 360 | 0.6750 | -19 | c.53+ others(34): Show |
LSP1 | ENSG00000130592.17 | transcript | ENST00000311604.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LTBP1_chr2_32941953_33404509 | 33164352 | GAAAAAAA others(12): Show |
G | intron_variant | MODIFIER | HG03239.hp1 NA18942.hp2 NA18964.hp1 |
a0003 | a0003c0021a0003c0028 | a0003c0021t0002a0003c0021t0004a0003c0028t0038 | a0003c0021t0002g0101a0003c0021t0004g0018a0003c0028t0038g0036 | 3 | 164 | 0.0183 | -19 | c.120 others(40): Show |
LTBP1 | ENSG00000049323.16 | transcript | ENST00000404816.7 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LTBP4_chr19_40596369_40634818 | 40625275 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG01975.hp2 HG03710.hp2 HG03834.hp2 |
a0002a0015 | a0002c0002a0002c0030a0015c0046 | a0002c0002t0001a0002c0030t0001a0015c0046t0001 | a0002c0002t0001g0235a0002c0030t0001g0253a0015c0046t0001g0236 | 3 | 338 | 0.0089 | -19 | c.383 others(36): Show |
LTBP4 | ENSG00000090006.18 | transcript | ENST00000396819.8 | protein_coding | 26/29 | chr19 | TogoVar | ||||||
LTBP4_chr19_40596369_40634818 | 40625277 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG02280.hp1 HG02451.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0228a0002c0002t0001g0274a0002c0002t0001g0275others(4): Show | 7 | 338 | 0.0207 | -19 | c.383 others(36): Show |
LTBP4 | ENSG00000090006.18 | transcript | ENST00000396819.8 | protein_coding | 26/29 | chr19 | TogoVar | ||||||
LTBP4_chr19_40596369_40634818 | 40625279 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG01496.hp1 |
a0002a0009 | a0002c0002a0009c0021 | a0002c0002t0001a0009c0021t0001 | a0002c0002t0001g0298a0009c0021t0001g0181 | 2 | 338 | 0.0059 | -19 | c.383 others(36): Show |
LTBP4 | ENSG00000090006.18 | transcript | ENST00000396819.8 | protein_coding | 26/29 | chr19 | TogoVar | ||||||
LTC4S_chr5_179788986_179801647 | 179791100 | GTTTTTTT others(12): Show |
G | upstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | -19 | c.-29 others(30): Show |
LTC4S | ENSG00000213316.10 | transcript | ENST00000292596.15 | protein_coding | 2885 | chr5 | TogoVar | ||||||
LUC7L2_chr7_139354894_139428454 | 139399449 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 276 | 0.0036 | -19 | c.255 others(34): Show |
LUC7L2 | ENSG00000146963.18 | transcript | ENST00000354926.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
LUC7L_chr16_183990_234449 | 184351 | CTCCTCTC others(12): Show |
C | downstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 350 | 0.0029 | -19 | c.*48 others(30): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 4638 | chr16 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 185675 | CCAGGGGC others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 350 | 0.0029 | -19 | c.*35 others(30): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 3314 | chr16 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 197207 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 350 | 0.0029 | -19 | c.687 others(36): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 6/9 | chr16 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24922825 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01975.hp1 HG02129.hp1 HG02145.hp2 others(13): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0025a0001c0001t0002g0113a0001c0001t0003g0081others(13): Show | 16 | 116 | 0.1379 | -19 | c.522 others(36): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LY86_chr6_6583720_6659982 | 6600587 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 424 | 0.0024 | -19 | c.136 others(38): Show |
LY86 | ENSG00000112799.9 | transcript | ENST00000230568.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LYPD4_chr19_41832074_41849683 | 41843059 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG02723.hp1 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169a0001c0001t0001g0170a0001c0001t0001g0171 | 3 | 428 | 0.0070 | -19 | c.-12 others(36): Show |
LYPD4 | ENSG00000273111.6 | transcript | ENST00000609812.6 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
LYPD5_chr19_43790927_43807447 | 43796379 | TATGAAAG others(12): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00544.hp2 others(127): Show |
a0002a0006a0007others(1): Show | a0002c0001a0002c0005a0006c0012others(2): Show | a0002c0001t0002a0002c0001t0006a0002c0001t0007others(7): Show | a0002c0001t0002g0001a0002c0001t0002g0015a0002c0001t0002g0019others(28): Show | 130 | 428 | 0.3037 | -19 | c.*11 others(30): Show |
LYPD5 | ENSG00000159871.15 | transcript | ENST00000377950.8 | protein_coding | 5/5 | 1193 | chr19 | TogoVar | |||||
LYRM1_chr16_20895771_20930006 | 20901783 | CCTGTTAG others(12): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050a0001c0001t0001g0051 | 2 | 382 | 0.0052 | -19 | c.-1+ others(32): Show |
LYRM1 | ENSG00000102897.10 | transcript | ENST00000567954.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
LYRM4_chr6_5103419_5265950 | 5245108 | AAAAAAAT others(12): Show |
A | intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0193 | 1 | 286 | 0.0035 | -19 | c.86+ others(36): Show |
LYRM4 | ENSG00000214113.11 | transcript | ENST00000330636.9 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
LYRM4_chr6_5103419_5265950 | 5245114 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0108 | 1 | 286 | 0.0035 | -19 | c.86+ others(36): Show |
LYRM4 | ENSG00000214113.11 | transcript | ENST00000330636.9 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
LYST_chr1_235656041_235871906 | 235799928 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02818.hp1 NA20129.hp2 |
a0008 | a0008c0017a0008c0034 | a0008c0017t0001a0008c0034t0001 | a0008c0017t0001g0098a0008c0034t0001g0097 | 2 | 236 | 0.0085 | -19 | c.400 others(36): Show |
LYST | ENSG00000143669.16 | transcript | ENST00000389793.7 | protein_coding | 10/52 | chr1 | TogoVar | ||||||
LZTS1_chr8_20241165_20308963 | 20251112 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp2 others(119): Show |
a0001a0009 | a0001c0002a0001c0010a0009c0008 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(10): Show | a0001c0002t0001g0220a0001c0002t0002g0007a0001c0002t0002g0015others(118): Show | 122 | 406 | 0.3005 | -19 | c.115 others(36): Show |
LZTS1 | ENSG00000061337.16 | transcript | ENST00000381569.5 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
LZTS3_chr20_3157617_3178549 | 3174778 | GACAAATA others(12): Show |
G | upstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 446 | 0.0022 | -19 | c.-15 others(30): Show |
LZTS3 | ENSG00000088899.16 | transcript | ENST00000337576.7 | protein_coding | 1230 | chr20 | TogoVar | ||||||
MACC1_chr7_20129655_20222384 | 20203497 | TGCATCCA others(12): Show |
T | intron_variant | MODIFIER | NA18946.hp1 NA18998.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0007a0003c0003t0001 | a0002c0002t0007g0215a0003c0003t0001g0237 | 2 | 316 | 0.0063 | -19 | c.-21 others(40): Show |
MACC1 | ENSG00000183742.13 | transcript | ENST00000400331.10 | protein_coding | 1/6 | chr7 | TogoVar | ||||||
MACF1_chr1_39199695_39492138 | 39360007 | AAAAAAAT others(12): Show |
A | intron_variant | MODIFIER | NA18971.hp1 NA18987.hp2 |
a0001a0053 | a0001c0017a0053c0077 | a0001c0017t0001a0053c0077t0001 | a0001c0017t0001g0028a0053c0077t0001g0020 | 2 | 246 | 0.0081 | -19 | c.122 others(38): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 47/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MACF1_chr1_39199695_39492138 | 39360009 | AAAAATAT others(12): Show |
A | intron_variant | MODIFIER | HG02976.hp1 HG03471.hp1 HG03579.hp2 |
a0005 | a0005c0009 | a0005c0009t0003 | a0005c0009t0003g0215a0005c0009t0003g0216a0005c0009t0003g0217 | 3 | 246 | 0.0122 | -19 | c.122 others(38): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 47/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MACF1_chr1_39199695_39492138 | 39360011 | AAATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG03453.hp2 NA18522.hp2 others(1): Show |
a0013a0015a0026 | a0013c0023a0015c0022a0026c0049 | a0013c0023t0001a0015c0022t0001a0026c0049t0001 | a0013c0023t0001g0003a0013c0023t0001g0004a0015c0022t0001g0005others(1): Show | 4 | 246 | 0.0163 | -19 | c.122 others(38): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 47/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MACF1_chr1_39199695_39492138 | 39417713 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG01081.hp1 others(24): Show |
a0002a0016a0027others(4): Show | a0002c0003a0002c0015a0016c0026others(5): Show | a0002c0003t0001a0002c0003t0002a0002c0015t0002others(6): Show | a0002c0003t0001g0186a0002c0003t0001g0187a0002c0003t0002g0044others(24): Show | 27 | 246 | 0.1098 | -19 | c.158 others(40): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 58/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |