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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KRTAP9-3_chr17_41227449_41238454 | 41236040 | A | AAAAGAAA others(17): Show |
downstream_gene_variant | MODIFIER | NA19058.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 439 | 0.0023 | 24 | c.*30 others(35): Show |
KRTAP9-3 | ENSG00000204873.5 | transcript | ENST00000411528.4 | protein_coding | 2587 | chr17 | TogoVar | ||||||
KRTAP9-6_chr17_41260378_41270860 | 41263222 | T | TGAAGGAA others(17): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG00735.hp2 others(36): Show |
a0000 | a0000c0001a0000c0006a0000c0007 | a0000c0001t0000a0000c0006t0000a0000c0007t0000 | a0000c0001t0000g0000a0000c0006t0000g0000a0000c0007t0000g0000 | 39 | 248 | 0.1573 | 24 | c.-21 others(35): Show |
KRTAP9-6 | ENSG00000212659.2 | transcript | ENST00000391355.2 | protein_coding | 2155 | chr17 | TogoVar | ||||||
KRTAP9-8_chr17_41232999_41244004 | 41236040 | A | AAAAGAAA others(17): Show |
upstream_gene_variant | MODIFIER | NA19058.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 435 | 0.0023 | 24 | c.-20 others(35): Show |
KRTAP9-8 | ENSG00000187272.7 | transcript | ENST00000254072.7 | protein_coding | 1958 | chr17 | TogoVar | ||||||
KSR1_chr17_27451448_27631435 | 27526094 | T | TTCTTTCT others(17): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0240 | 1 | 246 | 0.0041 | 24 | c.232 others(43): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KSR1_chr17_27451448_27631435 | 27563981 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 246 | 0.0041 | 24 | c.372 others(43): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KSR2_chr12_117448012_117973990 | 117586629 | A | AAAAGAAA others(17): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02818.hp2 HG02886.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0008a0001c0001t0024a0001c0001t0047others(6): Show | a0001c0001t0008g0103a0001c0001t0024g0178a0001c0001t0047g0007others(6): Show | 9 | 196 | 0.0459 | 24 | c.117 others(43): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117595422 | T | TGGCGCAA others(17): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00544.hp2 others(22): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0022a0001c0001t0048a0001c0001t0133others(21): Show | a0001c0001t0022g0088a0001c0001t0048g0039a0001c0001t0133g0154others(22): Show | 25 | 196 | 0.1276 | 24 | c.117 others(45): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117611445 | G | GACACACA others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00597.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(22): Show | a0001c0001t0001g0153a0001c0001t0003g0016a0001c0001t0008g0103others(22): Show | 25 | 196 | 0.1276 | 24 | c.117 others(45): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117656940 | G | GGAGATAT others(17): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0025 | 1 | 196 | 0.0051 | 24 | c.117 others(45): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117734745 | C | CATGGATG others(17): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0002 | a0001c0002t0113 | a0001c0002t0113g0156 | 1 | 196 | 0.0051 | 24 | c.986 others(43): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117777088 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0068 | a0001c0003t0068g0046 | 1 | 196 | 0.0051 | 24 | c.473 others(43): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 3/19 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117777175 | C | CTATATAT others(17): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0014 | a0001c0014t0072 | a0001c0014t0072g0064 | 1 | 196 | 0.0051 | 24 | c.473 others(43): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 3/19 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117949094 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0003 | a0001c0003t0025 | a0001c0003t0025g0187 | 1 | 196 | 0.0051 | 24 | c.180 others(43): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117971094 | C | CAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 HG02897.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0019a0001c0001t0104a0001c0003t0094 | a0001c0001t0019g0144a0001c0001t0104g0176a0001c0003t0094g0169 | 3 | 196 | 0.0153 | 24 | c.-28 others(35): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 2105 | chr12 | TogoVar | ||||||
KTN1_chr14_55575207_55689579 | 55631341 | G | GATTGATA others(17): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 314 | 0.0032 | 24 | c.122 others(43): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 7/43 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KTN1_chr14_55575207_55689579 | 55646436 | C | CTTTCCTT others(17): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 314 | 0.0032 | 24 | c.217 others(41): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 18/43 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KYAT1_chr9_128827942_128886950 | 128865359 | A | ATATATTT others(17): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0320a0001c0001t0002g0163 | 2 | 326 | 0.0061 | 24 | c.-7+ others(41): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
KYNU_chr2_142872664_143060833 | 142977372 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02896.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0181a0001c0001t0184a0001c0001t0195others(2): Show | a0001c0001t0181g0116a0001c0001t0184g0268a0001c0001t0195g0096others(2): Show | 5 | 332 | 0.0151 | 24 | c.730 others(41): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KYNU_chr2_142872664_143060833 | 143013298 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02280.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0126 | a0001c0001t0008g0180a0001c0001t0008g0185a0001c0001t0008g0186others(2): Show | 5 | 332 | 0.0151 | 24 | c.903 others(43): 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(17): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01496.hp2 NA18986.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0039others(2): Show | a0001c0001t0002g0241a0001c0001t0004g0232a0001c0001t0039g0126others(2): Show | 5 | 332 | 0.0151 | 24 | c.956 others(39): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
L1CAM_chrX_153856516_153891173 | 153859456 | A | AAAGGAAG others(17): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 283 | 0.0035 | 24 | c.*32 others(35): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 2059 | chrX | TogoVar | ||||||
L1CAM_chrX_153856516_153891173 | 153860529 | T | TTCTTTCT others(17): Show |
downstream_gene_variant | MODIFIER | NA18985.hp1 | a0013 | a0013c0023 | a0013c0023t0006 | a0013c0023t0006g0082 | 1 | 283 | 0.0035 | 24 | c.*21 others(35): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 986 | chrX | TogoVar | ||||||
L1TD1_chr1_62189849_62217328 | 62205393 | C | CTCTCTCT others(17): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0257 | 1 | 414 | 0.0024 | 24 | c.-11 others(43): 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(17): Show |
intron_variant | MODIFIER | NA18975.hp1 NA19002.hp2 NA19055.hp2 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0007a0003c0003t0004g0050a0003c0003t0004g0077others(1): Show | 5 | 414 | 0.0121 | 24 | c.-11 others(43): 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(17): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03669.hp2 NA20300.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0185a0002c0002t0003g0193a0002c0002t0003g0198 | 3 | 414 | 0.0073 | 24 | c.-11 others(43): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
L1TD1_chr1_62189849_62217328 | 62215590 | T | TTTTATTT others(17): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0010 | a0010c0011 | a0010c0011t0011 | a0010c0011t0011g0355 | 1 | 414 | 0.0024 | 24 | c.*42 others(35): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 3263 | chr1 | TogoVar | ||||||
L3MBTL1_chr20_43502697_43546895 | 43522457 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 422 | 0.0024 | 24 | c.863 others(41): Show |
L3MBTL1 | ENSG00000185513.18 | transcript | ENST00000418998.7 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
L3MBTL3_chr6_130013581_130146438 | 130055467 | C | CCTCCCTC others(17): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01099.hp2 HG01109.hp1 others(6): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0004a0002c0001t0014 | a0002c0001t0001g0047a0002c0001t0001g0048a0002c0001t0001g0049others(6): Show | 9 | 298 | 0.0302 | 24 | c.667 others(39): Show |
L3MBTL3 | ENSG00000198945.8 | transcript | ENST00000361794.7 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
L3MBTL4_chr18_5949717_6419911 | 6099585 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 94 | 0.0106 | 24 | c.120 others(43): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 14/18 | chr18 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 6118208 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02897.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0029a0002c0002t0001g0053 | 2 | 94 | 0.0213 | 24 | c.119 others(45): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 14/18 | chr18 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 6295346 | C | CTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0078 | 1 | 94 | 0.0106 | 24 | c.127 others(41): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 4/18 | chr18 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 6391752 | A | AACAACTA others(17): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02970.hp1 |
a0001a0002 | a0001c0007a0002c0002 | a0001c0007t0002a0002c0002t0001 | a0001c0007t0002g0081a0002c0002t0001g0050 | 2 | 94 | 0.0213 | 24 | c.-91 others(43): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 1/18 | chr18 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 6391752 | A | AACTACTA others(17): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01952.hp2 HG02257.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0029a0001c0001t0003g0030a0001c0001t0003g0031others(4): Show | 7 | 94 | 0.0745 | 24 | c.-91 others(43): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 1/18 | chr18 | TogoVar | ||||||
LACC1_chr13_43874904_43898932 | 43879740 | T | TGAGGTGA others(17): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 HG03490.hp1 HG03492.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0038 | 3 | 456 | 0.0066 | 24 | c.-41 others(33): Show |
LACC1 | ENSG00000179630.11 | transcript | ENST00000325686.7 | protein_coding | 163 | chr13 | TogoVar | ||||||
LAIR2_chr19_54497831_54515687 | 54499439 | G | GTGGTTTC others(17): Show |
upstream_gene_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 475 | 0.0021 | 24 | c.-34 others(35): Show |
LAIR2 | ENSG00000167618.10 | transcript | ENST00000301202.7 | protein_coding | 3391 | chr19 | TogoVar | ||||||
LAMA1_chr18_6936742_7122797 | 7031680 | C | CAAATAAA others(17): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01106.hp1 HG01175.hp2 others(31): Show |
a0001a0003a0006others(21): Show | a0001c0165a0003c0133a0003c0151others(29): Show | a0001c0165t0001a0003c0133t0003a0003c0151t0001others(31): Show | a0001c0165t0001g0137a0003c0133t0003g0129a0003c0151t0001g0191others(31): Show | 34 | 278 | 0.1223 | 24 | c.227 others(41): Show |
LAMA1 | ENSG00000101680.16 | transcript | ENST00000389658.4 | protein_coding | 16/62 | chr18 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129048540 | C | CCTTCCTT others(17): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0031 | a0031c0037 | a0031c0037t0001 | a0031c0037t0001g0063 | 1 | 88 | 0.0114 | 24 | c.113 others(41): 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(17): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0029 | a0029c0045 | a0029c0045t0002 | a0029c0045t0002g0006 | 1 | 88 | 0.0114 | 24 | c.396 others(41): 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(17): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0065 | 1 | 88 | 0.0114 | 24 | c.178 others(45): 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(17): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0035 | a0002c0035t0006 | a0002c0035t0006g0028 | 1 | 88 | 0.0114 | 24 | c.178 others(45): 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(17): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0074 | 1 | 88 | 0.0114 | 24 | c.178 others(45): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 12/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LAMA2_chr6_128878138_129521566 | 129314398 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02717.hp1 NA18946.hp2 |
a0009a0019 | a0009c0024a0019c0033 | a0009c0024t0004a0019c0033t0001 | a0009c0024t0004g0055a0019c0033t0001g0015 | 2 | 88 | 0.0227 | 24 | c.341 others(41): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 23/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LAMA3_chr18_23684453_23960066 | 23687744 | C | CTGTGTGT others(17): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0259 | 1 | 280 | 0.0036 | 24 | c.-19 others(35): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 1708 | chr18 | TogoVar | ||||||
LAMA3_chr18_23684453_23960066 | 23687746 | T | TTGTGTGT others(17): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01258.hp1 HG01496.hp2 others(4): Show |
a0002a0003a0036 | a0002c0003a0003c0004a0036c0025 | a0002c0003t0001a0003c0004t0001a0036c0025t0001 | a0002c0003t0001g0258a0003c0004t0001g0247a0003c0004t0001g0253others(4): Show | 7 | 280 | 0.0250 | 24 | c.-19 others(35): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 1706 | chr18 | TogoVar | ||||||
LAMA3_chr18_23684453_23960066 | 23837570 | G | GATAGATA others(17): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0032 | a0032c0026 | a0032c0026t0001 | a0032c0026t0001g0152 | 1 | 280 | 0.0036 | 24 | c.309 others(41): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 25/74 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
LAMA3_chr18_23684453_23960066 | 23837570 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01934.hp2 others(8): Show |
a0001a0003a0035 | a0001c0001a0001c0023a0003c0004others(1): Show | a0001c0001t0002a0001c0023t0001a0003c0004t0001others(1): Show | a0001c0001t0002g0006a0001c0001t0002g0162a0001c0001t0002g0163others(8): Show | 11 | 280 | 0.0393 | 24 | c.309 others(41): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 25/74 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
LAMA4_chr6_112102931_112259567 | 112130298 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0052 | a0001c0052t0002 | a0001c0052t0002g0295 | 1 | 314 | 0.0032 | 24 | c.396 others(41): Show |
LAMA4 | ENSG00000112769.20 | transcript | ENST00000230538.12 | protein_coding | 29/38 | chr6 | TogoVar | ||||||
LAMA4_chr6_112102931_112259567 | 112207518 | A | AAACCAAC others(17): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG02572.hp1 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0011a0001c0020others(3): Show | a0001c0002t0001a0001c0011t0003a0001c0020t0005others(3): Show | a0001c0002t0001g0076a0001c0002t0001g0197a0001c0011t0003g0156others(5): Show | 8 | 314 | 0.0255 | 24 | c.298 others(39): Show |
LAMA4 | ENSG00000112769.20 | transcript | ENST00000230538.12 | protein_coding | 3/38 | chr6 | TogoVar | ||||||
LAMA4_chr6_112102931_112259567 | 112241162 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0023 | a0001c0023t0003 | a0001c0023t0003g0306 | 1 | 314 | 0.0032 | 24 | c.195 others(43): Show |
LAMA4 | ENSG00000112769.20 | transcript | ENST00000230538.12 | protein_coding | 2/38 | chr6 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62309603 | T | TGGGAGGA others(17): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0047 | a0047c0124 | a0047c0124t0001 | a0047c0124t0001g0083 | 1 | 186 | 0.0054 | 24 | c.109 others(43): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 79/79 | chr20 | TogoVar |