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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LHFPL4_chr3_9493361_9558822 | 9557420 | G | GGAAGAAA others(20): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0345 | 1 | 360 | 0.0028 | 27 | c.-39 others(38): Show |
LHFPL4 | ENSG00000156959.9 | transcript | ENST00000287585.8 | protein_coding | 3599 | chr3 | TogoVar | ||||||
LHFPL7_chr22_24930098_24951694 | 24939924 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 420 | 0.0024 | 27 | c.-17 others(42): Show |
LHFPL7 | ENSG00000206069.7 | transcript | ENST00000640159.2 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507279 | T | TGGGGGGG others(20): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 260 | 0.0039 | 27 | c.624 others(44): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124610449 | A | AGGGTGCG others(20): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 260 | 0.0039 | 27 | c.717 others(44): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124610576 | G | GGGCGAGG others(20): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 260 | 0.0039 | 27 | c.717 others(44): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124610684 | T | TGAGGGTG others(20): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 260 | 0.0039 | 27 | c.717 others(44): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124610696 | T | TGAGGGTG others(20): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG03041.hp2 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0099a0001c0001t0001g0193a0005c0006t0001g0245 | 3 | 260 | 0.0115 | 27 | c.717 others(44): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124610714 | T | TGGAGCGG others(20): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 260 | 0.0039 | 27 | c.717 others(44): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LHX3_chr9_136191250_136210128 | 136208291 | T | TGGAGGGT others(20): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00735.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(18): Show | 42 | 438 | 0.0959 | 27 | c.-32 others(38): Show |
LHX3 | ENSG00000107187.17 | transcript | ENST00000371748.10 | protein_coding | 3164 | chr9 | TogoVar | ||||||
LIG1_chr19_48110445_48175344 | 48110531 | T | TGCTCCGG others(20): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 HG03453.hp2 NA20129.hp1 others(1): Show |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0135a0001c0007t0001g0136a0001c0007t0001g0137others(1): Show | 4 | 330 | 0.0121 | 27 | c.*51 others(38): Show |
LIG1 | ENSG00000105486.15 | transcript | ENST00000263274.12 | protein_coding | 4913 | chr19 | TogoVar | ||||||
LIG1_chr19_48110445_48175344 | 48110531 | T | TGCTCCGG others(20): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(134): Show |
a0001a0004a0005others(4): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0095others(134): Show | 137 | 330 | 0.4152 | 27 | c.*50 others(38): Show |
LIG1 | ENSG00000105486.15 | transcript | ENST00000263274.12 | protein_coding | 4913 | chr19 | TogoVar | ||||||
LIG1_chr19_48110445_48175344 | 48110556 | T | TGGGCTCC others(20): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG02280.hp2 HG03130.hp2 others(2): Show |
a0001a0003 | a0001c0004a0003c0006 | a0001c0004t0004a0003c0006t0001 | a0001c0004t0004g0327a0003c0006t0001g0009a0003c0006t0001g0010others(2): Show | 5 | 330 | 0.0152 | 27 | c.*50 others(38): Show |
LIG1 | ENSG00000105486.15 | transcript | ENST00000263274.12 | protein_coding | 4888 | chr19 | TogoVar | ||||||
LIMA1_chr12_50170788_50288520 | 50175363 | C | CAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 HG02559.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0115a0001c0001t0004g0131a0001c0001t0004g0166 | 3 | 294 | 0.0102 | 27 | c.*17 others(38): Show |
LIMA1 | ENSG00000050405.14 | transcript | ENST00000341247.9 | protein_coding | 424 | chr12 | TogoVar | ||||||
LIMA1_chr12_50170788_50288520 | 50247604 | A | AATTATTA others(20): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 294 | 0.0034 | 27 | c.119 others(44): Show |
LIMA1 | ENSG00000050405.14 | transcript | ENST00000341247.9 | protein_coding | 2/10 | chr12 | TogoVar | ||||||
LIMD1_chr3_45589751_45691341 | 45594791 | A | ACACACAC others(20): Show |
5_prime_UTR_variant | MODIFIER | NA18960.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0164a0001c0001t0165 | a0001c0001t0164g0274a0001c0001t0165g0280 | 2 | 358 | 0.0056 | 27 | c.-88 others(34): Show |
LIMD1 | ENSG00000144791.10 | transcript | ENST00000273317.5 | protein_coding | 1/8 | 61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
LIMD1_chr3_45589751_45691341 | 45594793 | A | ACACACAC others(20): Show |
5_prime_UTR_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0150 | a0001c0001t0150g0285 | 1 | 358 | 0.0028 | 27 | c.-86 others(34): Show |
LIMD1 | ENSG00000144791.10 | transcript | ENST00000273317.5 | protein_coding | 1/8 | 59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
LIMD1_chr3_45589751_45691341 | 45594801 | A | ACACACAC others(20): Show |
5_prime_UTR_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0129 | a0001c0001t0129g0288 | 1 | 358 | 0.0028 | 27 | c.-78 others(34): Show |
LIMD1 | ENSG00000144791.10 | transcript | ENST00000273317.5 | protein_coding | 1/8 | 51 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
LIMD1_chr3_45589751_45691341 | 45663868 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0044 | 1 | 358 | 0.0028 | 27 | c.151 others(46): Show |
LIMD1 | ENSG00000144791.10 | transcript | ENST00000273317.5 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LIMD1_chr3_45589751_45691341 | 45686663 | A | ATATATAT others(20): Show |
downstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0348 | 1 | 358 | 0.0028 | 27 | c.*96 others(38): Show |
LIMD1 | ENSG00000144791.10 | transcript | ENST00000273317.5 | protein_coding | 323 | chr3 | TogoVar | ||||||
LIMD1_chr3_45589751_45691341 | 45686663 | A | ATATATAT others(20): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 HG02897.hp1 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0021a0001c0002t0108 | a0001c0002t0021g0011a0001c0002t0021g0012a0001c0002t0108g0014 | 3 | 358 | 0.0084 | 27 | c.*96 others(38): Show |
LIMD1 | ENSG00000144791.10 | transcript | ENST00000273317.5 | protein_coding | 323 | chr3 | TogoVar | ||||||
LIMD1_chr3_45589751_45691341 | 45686663 | A | ATATATAT others(20): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG02109.hp2 HG02300.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0065a0001c0002t0110others(2): Show | a0001c0002t0011g0291a0001c0002t0065g0341a0001c0002t0110g0342others(2): Show | 5 | 358 | 0.0140 | 27 | c.*96 others(38): Show |
LIMD1 | ENSG00000144791.10 | transcript | ENST00000273317.5 | protein_coding | 323 | chr3 | TogoVar | ||||||
LIMD1_chr3_45589751_45691341 | 45686663 | A | ATATATAT others(20): Show |
downstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0098 | 1 | 358 | 0.0028 | 27 | c.*96 others(38): Show |
LIMD1 | ENSG00000144791.10 | transcript | ENST00000273317.5 | protein_coding | 323 | chr3 | TogoVar | ||||||
LIMD1_chr3_45589751_45691341 | 45686663 | A | ATATATAT others(20): Show |
downstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0173 | a0001c0001t0173g0244 | 1 | 358 | 0.0028 | 27 | c.*96 others(38): Show |
LIMD1 | ENSG00000144791.10 | transcript | ENST00000273317.5 | protein_coding | 323 | chr3 | TogoVar | ||||||
LIMD1_chr3_45589751_45691341 | 45686663 | A | ATATATAT others(20): Show |
downstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0243 | 1 | 358 | 0.0028 | 27 | c.*96 others(38): Show |
LIMD1 | ENSG00000144791.10 | transcript | ENST00000273317.5 | protein_coding | 323 | chr3 | TogoVar | ||||||
LIMK1_chr7_74078804_74127525 | 74102484 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02015.hp1 HG02074.hp2 others(11): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0001g0047a0001c0001t0001g0096a0001c0001t0001g0122others(11): Show | 14 | 302 | 0.0464 | 27 | c.608 others(44): Show |
LIMK1 | ENSG00000106683.15 | transcript | ENST00000336180.7 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
LIMK2_chr22_31207298_31285080 | 31257040 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0195 | 1 | 358 | 0.0028 | 27 | c.117 others(44): Show |
LIMK2 | ENSG00000182541.18 | transcript | ENST00000331728.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
LIMS1_chr2_108529470_108692246 | 108569764 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0226 | 1 | 246 | 0.0041 | 27 | c.32+ others(44): Show |
LIMS1 | ENSG00000169756.17 | transcript | ENST00000544547.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LIN28B_chr6_104952107_105088332 | 105023533 | T | TATAATAT others(20): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0005 | 1 | 278 | 0.0036 | 27 | c.199 others(44): Show |
LIN28B | ENSG00000187772.8 | transcript | ENST00000345080.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LIN28B_chr6_104952107_105088332 | 105023621 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02965.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007 | a0001c0001t0002g0242a0001c0001t0004g0254a0001c0001t0007g0255 | 3 | 278 | 0.0108 | 27 | c.199 others(44): Show |
LIN28B | ENSG00000187772.8 | transcript | ENST00000345080.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LIN7A_chr12_80787520_80942934 | 80807063 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 292 | 0.0034 | 27 | c.702 others(44): Show |
LIN7A | ENSG00000111052.8 | transcript | ENST00000552864.6 | protein_coding | 5/5 | chr12 | TogoVar | ||||||
LIN7A_chr12_80787520_80942934 | 80882287 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01891.hp2 HG02056.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0021 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0009others(6): Show | 9 | 292 | 0.0308 | 27 | c.201 others(44): Show |
LIN7A | ENSG00000111052.8 | transcript | ENST00000552864.6 | protein_coding | 2/5 | chr12 | TogoVar | ||||||
LIN7A_chr12_80787520_80942934 | 80882302 | T | TTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 292 | 0.0034 | 27 | c.201 others(44): Show |
LIN7A | ENSG00000111052.8 | transcript | ENST00000552864.6 | protein_coding | 2/5 | chr12 | TogoVar | ||||||
LIPG_chr18_49557057_49604185 | 49558439 | C | CTCTCTCT others(20): Show |
upstream_gene_variant | MODIFIER | NA18939.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0355 | 1 | 384 | 0.0026 | 27 | c.-38 others(38): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 3617 | chr18 | TogoVar | ||||||
LIPG_chr18_49557057_49604185 | 49597515 | G | GGAGGGCG others(20): Show |
3_prime_UTR_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0002 | a0002c0002t0071 | a0002c0002t0071g0362 | 1 | 384 | 0.0026 | 27 | c.*69 others(38): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 10/10 | 6994 | chr18 | TogoVar | |||||
LIPH_chr3_185501262_185557588 | 185522640 | G | GAAAGAAA others(20): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0134 | 1 | 358 | 0.0028 | 27 | c.718 others(44): Show |
LIPH | ENSG00000163898.10 | transcript | ENST00000296252.9 | protein_coding | 5/9 | chr3 | TogoVar | ||||||
LIPH_chr3_185501262_185557588 | 185528351 | A | AAAAGAAA others(20): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0255 | 1 | 358 | 0.0028 | 27 | c.527 others(42): Show |
LIPH | ENSG00000163898.10 | transcript | ENST00000296252.9 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
LIPM_chr10_88797730_88825546 | 88822544 | C | CTTTTTTT others(20): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01074.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0028others(3): Show | 9 | 462 | 0.0195 | 27 | c.*20 others(38): Show |
LIPM | ENSG00000173239.14 | transcript | ENST00000404743.9 | protein_coding | 1999 | chr10 | TogoVar | ||||||
LIX1_chr5_97086867_97147611 | 97103103 | G | GTTTTTTA others(20): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0188a0001c0002t0002g0235a0001c0002t0002g0236others(1): Show | 4 | 356 | 0.0112 | 27 | c.483 others(44): Show |
LIX1 | ENSG00000145721.12 | transcript | ENST00000274382.9 | protein_coding | 4/5 | chr5 | TogoVar | ||||||
LMNB1_chr5_126772136_126842020 | 126787546 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0228 | 1 | 374 | 0.0027 | 27 | c.359 others(44): Show |
LMNB1 | ENSG00000113368.12 | transcript | ENST00000261366.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
LMNB1_chr5_126772136_126842020 | 126787546 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 374 | 0.0027 | 27 | c.359 others(44): Show |
LMNB1 | ENSG00000113368.12 | transcript | ENST00000261366.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
LMNB1_chr5_126772136_126842020 | 126787546 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 374 | 0.0027 | 27 | c.359 others(44): Show |
LMNB1 | ENSG00000113368.12 | transcript | ENST00000261366.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
LMNB1_chr5_126772136_126842020 | 126795933 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 374 | 0.0027 | 27 | c.360 others(44): Show |
LMNB1 | ENSG00000113368.12 | transcript | ENST00000261366.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
LMNB1_chr5_126772136_126842020 | 126800981 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0216a0001c0001t0003g0251 | 2 | 374 | 0.0054 | 27 | c.360 others(44): Show |
LMNB1 | ENSG00000113368.12 | transcript | ENST00000261366.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
LMO7_chr13_75631330_75864866 | 75776162 | G | GATATATA others(20): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02523.hp2 NA18747.hp2 others(2): Show |
a0002a0005 | a0002c0003a0005c0005 | a0002c0003t0001a0005c0005t0003 | a0002c0003t0001g0146a0002c0003t0001g0255a0002c0003t0001g0258others(2): Show | 5 | 272 | 0.0184 | 27 | c.317 others(46): Show |
LMO7 | ENSG00000136153.20 | transcript | ENST00000377534.8 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
LMOD1_chr1_201891456_201951548 | 201947181 | G | GAGAGAGA others(20): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 400 | 0.0025 | 27 | c.-84 others(36): Show |
LMOD1 | ENSG00000163431.14 | transcript | ENST00000367288.5 | protein_coding | 634 | chr1 | TogoVar | ||||||
LMOD1_chr1_201891456_201951548 | 201948342 | A | AAAGAAAG others(20): Show |
upstream_gene_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 400 | 0.0025 | 27 | c.-20 others(38): Show |
LMOD1 | ENSG00000163431.14 | transcript | ENST00000367288.5 | protein_coding | 1795 | chr1 | TogoVar | ||||||
LMOD3_chr3_69101065_69127595 | 69110853 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03098.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0132 | a0001c0001t0003g0064a0001c0003t0132g0053 | 2 | 428 | 0.0047 | 27 | c.165 others(46): Show |
LMOD3 | ENSG00000163380.16 | transcript | ENST00000420581.7 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
LMOD3_chr3_69101065_69127595 | 69110853 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0353 | 1 | 428 | 0.0023 | 27 | c.165 others(46): Show |
LMOD3 | ENSG00000163380.16 | transcript | ENST00000420581.7 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
LMOD3_chr3_69101065_69127595 | 69110853 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02965.hp2 HG03209.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0014a0001c0001t0136a0004c0009t0060 | a0001c0001t0014g0079a0001c0001t0014g0080a0001c0001t0014g0230others(3): Show | 6 | 428 | 0.0140 | 27 | c.165 others(46): Show |
LMOD3 | ENSG00000163380.16 | transcript | ENST00000420581.7 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
LMOD3_chr3_69101065_69127595 | 69118799 | T | TGAGCGTT others(20): Show |
conservative_inframe_insertion | MODERATE | NA18986.hp1 | a0000 | a0000c0019 | a0000c0019t0015 | a0000c0019t0015g0120 | 1 | 428 | 0.0023 | 27 | c.155 others(36): Show |
p.Lys others(39): Show |
LMOD3 | ENSG00000163380.16 | transcript | ENST00000420581.7 | protein_coding | 2/3 | 1764/4922 | 1555/1683 | 519/560 | chr3 | TogoVar |