view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KYAT1_chr9_128827942_128886950 | 128865355 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 | 1 | 326 | 0.0031 | 18 | c.-7+ others(35): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
KYAT1_chr9_128827942_128886950 | 128865359 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 326 | 0.0031 | 18 | c.-7+ others(35): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
KYAT1_chr9_128827942_128886950 | 128865359 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202a0001c0001t0002g0203 | 2 | 326 | 0.0061 | 18 | c.-7+ others(35): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
KYAT1_chr9_128827942_128886950 | 128865359 | A | ATATATTT others(11): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 326 | 0.0031 | 18 | c.-7+ others(35): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
KYAT1_chr9_128827942_128886950 | 128865359 | A | ATATTTTT others(11): Show |
intron_variant | MODIFIER | HG02622.hp2 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198a0001c0001t0002g0208 | 2 | 326 | 0.0061 | 18 | c.-7+ others(35): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
KYAT1_chr9_128827942_128886950 | 128865359 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010a0001c0001t0002g0231 | 2 | 326 | 0.0061 | 18 | c.-7+ others(35): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
KYNU_chr2_142872664_143060833 | 142977372 | G | GAGTTATA others(11): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02615.hp1 HG02630.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0023a0001c0001t0035a0001c0001t0036others(10): Show | a0001c0001t0023g0078a0001c0001t0023g0081a0001c0001t0023g0091others(13): Show | 16 | 332 | 0.0482 | 18 | c.730 others(35): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KYNU_chr2_142872664_143060833 | 143013298 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02970.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0086a0001c0003t0119 | a0001c0001t0086g0073a0001c0003t0119g0097 | 2 | 332 | 0.0060 | 18 | c.903 others(37): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KYNU_chr2_142872664_143060833 | 143013298 | C | CTCTCTGT others(11): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03579.hp2 NA20300.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0085a0001c0001t0199a0002c0002t0060 | a0001c0001t0085g0077a0001c0001t0199g0094a0002c0002t0060g0095 | 3 | 332 | 0.0090 | 18 | c.903 others(37): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KYNU_chr2_142872664_143060833 | 143013298 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG00741.hp1 others(46): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0006a0001c0001t0007a0001c0001t0011others(34): Show | a0001c0001t0006g0027a0001c0001t0006g0064a0001c0001t0006g0119others(46): Show | 49 | 332 | 0.1476 | 18 | c.903 others(37): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KYNU_chr2_142872664_143060833 | 143032711 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG01069.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0019others(37): Show | 40 | 332 | 0.1205 | 18 | c.956 others(33): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
L1TD1_chr1_62189849_62217328 | 62197397 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(6): Show |
a0001a0006 | a0001c0001a0001c0004a0006c0010 | a0001c0001t0001a0001c0004t0005a0006c0010t0001 | a0001c0001t0001g0346a0001c0001t0001g0347a0001c0004t0005g0292others(6): Show | 9 | 414 | 0.0217 | 18 | c.-11 others(35): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
L1TD1_chr1_62189849_62217328 | 62205389 | T | TTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 414 | 0.0024 | 18 | c.-11 others(37): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
L1TD1_chr1_62189849_62217328 | 62205441 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02273.hp1 HG02723.hp2 |
a0002a0005 | a0002c0002a0005c0006 | a0002c0002t0003a0005c0006t0008 | a0002c0002t0003g0187a0005c0006t0008g0223a0005c0006t0008g0230 | 3 | 414 | 0.0073 | 18 | c.-11 others(37): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
L1TD1_chr1_62189849_62217328 | 62205443 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0005 | a0005c0014 | a0005c0014t0033 | a0005c0014t0033g0350 | 1 | 414 | 0.0024 | 18 | c.-11 others(37): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
L1TD1_chr1_62189849_62217328 | 62205443 | A | ATATTTTT others(11): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0184 | 1 | 414 | 0.0024 | 18 | c.-11 others(37): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
L1TD1_chr1_62189849_62217328 | 62205443 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02809.hp2 HG03471.hp1 others(2): Show |
a0002a0003a0005 | a0002c0002a0003c0026a0005c0006 | a0002c0002t0003a0003c0026t0025a0005c0006t0008 | a0002c0002t0003g0039a0002c0002t0003g0040a0002c0002t0003g0180others(2): Show | 5 | 414 | 0.0121 | 18 | c.-11 others(37): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
L3MBTL1_chr20_43502697_43546895 | 43522457 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01358.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 2 | 422 | 0.0047 | 18 | c.863 others(35): Show |
L3MBTL1 | ENSG00000185513.18 | transcript | ENST00000418998.7 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
L3MBTL3_chr6_130013581_130146438 | 130048941 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02293.hp1 HG02818.hp2 others(7): Show |
a0001a0003 | a0001c0003a0003c0005 | a0001c0003t0001a0001c0003t0007a0003c0005t0001 | a0001c0003t0001g0010a0001c0003t0001g0016a0001c0003t0001g0017others(6): Show | 10 | 298 | 0.0336 | 18 | c.103 others(33): Show |
L3MBTL3 | ENSG00000198945.8 | transcript | ENST00000361794.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
L3MBTL3_chr6_130013581_130146438 | 130066286 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02155.hp1 HG02523.hp2 others(6): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0013 | a0002c0001t0001g0003a0002c0001t0001g0094a0002c0001t0001g0098others(5): Show | 9 | 298 | 0.0302 | 18 | c.865 others(31): Show |
L3MBTL3 | ENSG00000198945.8 | transcript | ENST00000361794.7 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 5981974 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0054 | 1 | 94 | 0.0106 | 18 | c.144 others(39): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 16/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6072865 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0066 | 1 | 94 | 0.0106 | 18 | c.144 others(37): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 16/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6072881 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 | 1 | 94 | 0.0106 | 18 | c.144 others(37): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 16/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6118208 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02809.hp2 HG02922.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0002g0037a0001c0001t0005g0046a0001c0001t0007g0043others(2): Show | 5 | 94 | 0.0532 | 18 | c.119 others(39): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 14/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6133333 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0087 | 1 | 94 | 0.0106 | 18 | c.119 others(37): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 14/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6285809 | A | ATATTATT others(11): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0057 | 1 | 94 | 0.0106 | 18 | c.127 others(37): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 4/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6391752 | A | AACAACTA others(11): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0077 | 1 | 94 | 0.0106 | 18 | c.-91 others(37): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 1/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6391752 | A | AACTACTA others(11): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02818.hp2 HG02976.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0002g0052a0001c0001t0005g0040a0001c0001t0007g0016others(1): Show | 4 | 94 | 0.0426 | 18 | c.-91 others(37): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 1/18 | chr18 | TogoVar | |||||||
LACC1_chr13_43874904_43898932 | 43882564 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02738.hp2 HG03669.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0005a0001c0003t0016 | a0001c0001t0001g0027a0001c0003t0005g0087a0001c0003t0016g0086 | 6 | 456 | 0.0132 | 18 | c.741 others(33): Show |
LACC1 | ENSG00000179630.11 | transcript | ENST00000325686.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
LACRT_chr12_54625811_54639895 | 54638097 | G | GCTACCAA others(11): Show |
upstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | 18 | c.-32 others(29): Show |
LACRT | ENSG00000135413.9 | transcript | ENST00000257867.5 | protein_coding | 3203 | chr12 | TogoVar | |||||||
LACTB2_chr8_70632266_70674185 | 70668748 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01255.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0051a0001c0002t0003g0052 | 2 | 352 | 0.0057 | 18 | c.122 others(33): Show |
LACTB2 | ENSG00000147592.9 | transcript | ENST00000276590.5 | protein_coding | 1/6 | chr8 | TogoVar | |||||||
LACTBL1_chr1_22948043_22977866 | 22950371 | T | TTTATTAT others(11): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00609.hp2 others(74): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0004others(10): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0011others(60): Show | 77 | 450 | 0.1711 | 18 | c.*26 others(29): Show |
LACTBL1 | ENSG00000215906.9 | transcript | ENST00000426928.7 | protein_coding | 2671 | chr1 | TogoVar | |||||||
LACTBL1_chr1_22948043_22977866 | 22950371 | T | TTTTTTAT others(11): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01069.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0085a0002c0004t0001g0223 | 2 | 450 | 0.0044 | 18 | c.*26 others(29): Show |
LACTBL1 | ENSG00000215906.9 | transcript | ENST00000426928.7 | protein_coding | 2671 | chr1 | TogoVar | |||||||
LAMA1_chr18_6936742_7122797 | 7007913 | T | TTATTTAT others(11): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0040 | a0040c0207 | a0040c0207t0002 | a0040c0207t0002g0013 | 1 | 278 | 0.0036 | 18 | c.412 others(35): Show |
LAMA1 | ENSG00000101680.16 | transcript | ENST00000389658.4 | protein_coding | 28/62 | chr18 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 128879455 | A | ATATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG02647.hp2 |
a0002a0008 | a0002c0056a0008c0034 | a0002c0056t0003a0008c0034t0002 | a0002c0056t0003g0077a0008c0034t0002g0036 | 2 | 88 | 0.0227 | 18 | c.-37 others(29): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 3682 | chr6 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 128879457 | A | ATATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0031 | a0031c0037 | a0031c0037t0001 | a0031c0037t0001g0063 | 1 | 88 | 0.0114 | 18 | c.-37 others(29): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 3680 | chr6 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 128890542 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02970.hp2 HG03041.hp1 others(2): Show |
a0002a0003a0006others(1): Show | a0002c0004a0002c0035a0003c0020others(2): Show | a0002c0004t0007a0002c0035t0006a0003c0020t0008others(2): Show | a0002c0004t0007g0024a0002c0035t0006g0028a0003c0020t0008g0027others(2): Show | 5 | 88 | 0.0568 | 18 | c.112 others(35): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 128962185 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0022 | a0022c0019 | a0022c0019t0002 | a0022c0019t0002g0012 | 1 | 88 | 0.0114 | 18 | c.112 others(37): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 128962185 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0011 | a0011c0028 | a0011c0028t0003 | a0011c0028t0003g0011 | 1 | 88 | 0.0114 | 18 | c.112 others(37): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129048553 | C | CTTTCTTT others(11): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0083 | 1 | 88 | 0.0114 | 18 | c.113 others(35): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129066038 | G | GTATGTCT others(11): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0025 | a0025c0032 | a0025c0032t0005 | a0025c0032t0005g0048 | 1 | 88 | 0.0114 | 18 | c.396 others(35): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 3/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129066038 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0007 | a0007c0047 | a0007c0047t0006 | a0007c0047t0006g0026 | 1 | 88 | 0.0114 | 18 | c.396 others(35): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 3/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129205478 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG02895.hp1 NA19043.hp2 |
a0004a0028 | a0004c0051a0028c0053 | a0004c0051t0001a0028c0053t0003 | a0004c0051t0001g0008a0028c0053t0003g0079 | 2 | 88 | 0.0227 | 18 | c.178 others(39): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 12/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129205493 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0007 | a0007c0047 | a0007c0047t0006 | a0007c0047t0006g0026 | 1 | 88 | 0.0114 | 18 | c.178 others(39): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 12/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129210024 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0003 | a0003c0063 | a0003c0063t0001 | a0003c0063t0001g0075 | 1 | 88 | 0.0114 | 18 | c.178 others(39): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 12/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129439825 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0009 | a0009c0064 | a0009c0064t0004 | a0009c0064t0004g0076 | 1 | 88 | 0.0114 | 18 | c.608 others(35): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 42/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA3_chr18_23684453_23960066 | 23687746 | T | TTGTGTGT others(11): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG01884.hp2 HG01891.hp1 others(17): Show |
a0001a0013a0014others(2): Show | a0001c0001a0001c0005a0001c0010others(6): Show | a0001c0001t0002a0001c0005t0001a0001c0010t0001others(6): Show | a0001c0001t0002g0155a0001c0001t0002g0178a0001c0001t0002g0194others(17): Show | 20 | 280 | 0.0714 | 18 | c.-19 others(29): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 1706 | chr18 | TogoVar | |||||||
LAMA3_chr18_23684453_23960066 | 23837570 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01071.hp1 HG01123.hp2 others(21): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(4): Show | a0001c0001t0002g0029a0001c0001t0002g0074a0001c0001t0002g0168others(21): Show | 24 | 280 | 0.0857 | 18 | c.309 others(35): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 25/74 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318318 | G | GGGGGGAG others(11): Show |
intron_variant | MODIFIER | HG02257.hp1 NA18522.hp1 |
a0074a0091 | a0074c0049a0091c0029 | a0074c0049t0001a0091c0029t0001 | a0074c0049t0001g0061a0091c0029t0001g0180 | 2 | 186 | 0.0108 | 18 | c.723 others(35): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62334753 | C | CAGGGCGA others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0101 | 1 | 186 | 0.0054 | 18 | c.248 others(35): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 20/79 | chr20 | TogoVar |