view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KSR2_chr12_117448012_117973990 | 117956249 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0102 | a0001c0001t0019g0117 a0001c0001t0102g0116 |
2 | 196 | 0.0102 | -13 | c.180 others(32): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117968029 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA19000.hp2 NA19011.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0076a0001c0002t0062 | a0001c0001t0076g0073 a0001c0002t0062g0056 |
2 | 196 | 0.0102 | -13 | c.180 others(26): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
KTN1_chr14_55575207_55689579 | 55583403 | TGTAGAAG others(6): Show |
T | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 314 | 0.0032 | -13 | c.-31 others(30): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 1/43 | chr14 | TogoVar | |||||||
KTN1_chr14_55575207_55689579 | 55591577 | CTTTCTTT others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01081.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0178 others(9): Show |
12 | 314 | 0.0382 | -13 | c.-31 others(32): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KTN1_chr14_55575207_55689579 | 55646467 | TTCCTTTC others(6): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG01433.hp1 HG02145.hp2 others(7): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0002a0005c0006t0002 | a0001c0001t0002g0012 a0001c0001t0002g0041 a0001c0001t0002g0042 others(7): Show |
10 | 314 | 0.0319 | -13 | c.217 others(30): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 18/43 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KYAT1_chr9_128827942_128886950 | 128830632 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 326 | 0.0031 | -13 | c.*29 others(24): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 2309 | chr9 | TogoVar | |||||||
KYAT1_chr9_128827942_128886950 | 128865336 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 326 | 0.0031 | -13 | c.-7+ others(30): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
KYAT1_chr9_128827942_128886950 | 128865338 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 326 | 0.0031 | -13 | c.-7+ others(30): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
KYAT1_chr9_128827942_128886950 | 128865342 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 326 | 0.0031 | -13 | c.-7+ others(30): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
KYAT3_chr1_88930779_88997629 | 88984204 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 312 | 0.0032 | -13 | c.99+ others(28): Show |
KYAT3 | ENSG00000137944.18 | transcript | ENST00000260508.9 | protein_coding | 2/13 | chr1 | TogoVar | |||||||
KYNU_chr2_142872664_143060833 | 142942162 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0197 | a0001c0001t0197g0252 | 1 | 332 | 0.0030 | -13 | c.374 others(32): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KYNU_chr2_142872664_143060833 | 142999007 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0007 | 1 | 332 | 0.0030 | -13 | c.902 others(32): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KYNU_chr2_142872664_143060833 | 143017145 | CCACCATT others(6): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00597.hp2 others(135): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0006a0001c0001t0007a0001c0001t0008others(87): Show | a0001c0001t0006g0004 a0001c0001t0006g0027 a0001c0001t0006g0039 others(135): Show |
138 | 332 | 0.4157 | -13 | c.903 others(32): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
L1CAM_chrX_153856516_153891173 | 153877287 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 283 | 0.0035 | -13 | c.-10 others(32): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 1/28 | chrX | TogoVar | |||||||
L1CAM_chrX_153856516_153891173 | 153880303 | GGTGCCCT others(6): Show |
G | intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 283 | 0.0035 | -13 | c.-10 others(32): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 1/28 | chrX | TogoVar | |||||||
L2HGDH_chr14_50237434_50317229 | 50249882 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01099.hp2 HG02559.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0020a0002c0002t0002a0002c0002t0005others(2): Show | a0001c0001t0020g0009 a0001c0001t0020g0011 a0002c0002t0002g0340 others(3): Show |
6 | 360 | 0.0167 | -13 | c.119 others(32): Show |
L2HGDH | ENSG00000087299.12 | transcript | ENST00000267436.9 | protein_coding | 9/9 | chr14 | TogoVar | |||||||
L3MBTL1_chr20_43502697_43546895 | 43522457 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 422 | 0.0024 | -13 | c.863 others(30): Show |
L3MBTL1 | ENSG00000185513.18 | transcript | ENST00000418998.7 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
L3MBTL3_chr6_130013581_130146438 | 130030665 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01099.hp2 HG01109.hp1 others(6): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0004a0002c0001t0014 | a0002c0001t0001g0047 a0002c0001t0001g0048 a0002c0001t0001g0049 others(6): Show |
9 | 298 | 0.0302 | -13 | c.-16 others(30): Show |
L3MBTL3 | ENSG00000198945.8 | transcript | ENST00000361794.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 6072882 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021 | 1 | 94 | 0.0106 | -13 | c.144 others(32): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 16/18 | chr18 | TogoVar | |||||||
LAIR2_chr19_54497831_54515687 | 54514555 | GTTTTTTT others(6): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02896.hp2 HG02965.hp1 others(10): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(9): Show |
13 | 475 | 0.0274 | -13 | c.*39 others(24): Show |
LAIR2 | ENSG00000167618.10 | transcript | ENST00000301202.7 | protein_coding | 3869 | chr19 | TogoVar | |||||||
LAMA1_chr18_6936742_7122797 | 7021820 | TATTATAT others(6): Show |
T | intron_variant | MODIFIER | NA18906.hp1 NA19030.hp2 |
a0009a0080 | a0009c0130a0080c0156 | a0009c0130t0001a0080c0156t0001 | a0009c0130t0001g0240 a0080c0156t0001g0259 |
2 | 278 | 0.0072 | -13 | c.270 others(32): Show |
LAMA1 | ENSG00000101680.16 | transcript | ENST00000389658.4 | protein_coding | 19/62 | chr18 | TogoVar | |||||||
LAMA1_chr18_6936742_7122797 | 7074967 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG01891.hp1 HG01952.hp2 others(21): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0002c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(21): Show | a0001c0001t0001g0141 a0001c0001t0002g0038 a0001c0002t0001g0187 others(21): Show |
24 | 278 | 0.0863 | -13 | c.345 others(30): Show |
LAMA1 | ENSG00000101680.16 | transcript | ENST00000389658.4 | protein_coding | 3/62 | chr18 | TogoVar | |||||||
LAMA1_chr18_6936742_7122797 | 7108640 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG01891.hp1 HG02258.hp2 others(2): Show |
a0030a0037a0043others(2): Show | a0030c0199a0037c0213a0043c0053others(2): Show | a0030c0199t0001a0037c0213t0001a0043c0053t0001others(2): Show | a0030c0199t0001g0258 a0037c0213t0001g0256 a0043c0053t0001g0257 others(2): Show |
5 | 278 | 0.0180 | -13 | c.61+ others(28): Show |
LAMA1 | ENSG00000101680.16 | transcript | ENST00000389658.4 | protein_coding | 1/62 | chr18 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 128967835 | CCTCAGAT others(6): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0065 | 1 | 88 | 0.0114 | -13 | c.113 others(32): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129431624 | ATAAACTT others(6): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02717.hp1 others(10): Show |
a0002a0004a0006others(8): Show | a0002c0026a0004c0051a0006c0017others(9): Show | a0002c0026t0002a0004c0051t0001a0006c0017t0007others(9): Show | a0002c0026t0002g0016 a0004c0051t0001g0008 a0006c0017t0007g0025 others(10): Show |
13 | 88 | 0.1477 | -13 | c.596 others(32): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 41/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129520373 | TAAAAAAA others(6): Show |
T | downstream_gene_variant | MODIFIER | HG00609.hp1 HG01261.hp1 HG02647.hp1 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0004a0003c0002others(4): Show | a0001c0001t0001a0002c0004t0001a0003c0002t0001others(4): Show | a0001c0001t0001g0056 a0002c0004t0001g0033 a0003c0002t0001g0065 others(4): Show |
7 | 88 | 0.0796 | -13 | c.*40 others(24): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 3808 | chr6 | TogoVar | |||||||
LAMA3_chr18_23684453_23960066 | 23695796 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA18951.hp2 NA19012.hp1 |
a0002a0005 | a0002c0003a0005c0006 | a0002c0003t0001a0005c0006t0001 | a0002c0003t0001g0110 a0005c0006t0001g0136 |
2 | 280 | 0.0071 | -13 | c.294 others(30): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 1/74 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LAMA3_chr18_23684453_23960066 | 23949413 | TCCATCTG others(6): Show |
T | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0027 | a0001c0027t0001 | a0001c0027t0001g0159 | 1 | 280 | 0.0036 | -13 | c.935 others(30): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 70/74 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LAMA3_chr18_23684453_23960066 | 23953320 | ATTTTGTT others(6): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0224 | 1 | 280 | 0.0036 | -13 | c.985 others(30): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 74/74 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LAMA3_chr18_23868020_23960066 | 23949413 | TCCATCTG others(6): Show |
T | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 334 | 0.0030 | -13 | c.452 others(30): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000269217.11 | protein_coding | 33/37 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LAMA3_chr18_23868020_23960066 | 23953320 | ATTTTGTT others(6): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0253 | 1 | 334 | 0.0030 | -13 | c.502 others(30): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000269217.11 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LAMA4_chr6_112102931_112259567 | 112190934 | TCTTTCTT others(6): Show |
T | intron_variant | MODIFIER | HG02523.hp1 HG02523.hp2 |
a0001a0021 | a0001c0022a0021c0042 | a0001c0022t0002a0021c0042t0001 | a0001c0022t0002g0122 a0021c0042t0001g0296 |
2 | 314 | 0.0064 | -13 | c.718 others(28): Show |
LAMA4 | ENSG00000112769.20 | transcript | ENST00000230538.12 | protein_coding | 6/38 | chr6 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62321522 | GTCAGTGA others(6): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG01256.hp2 HG01496.hp2 others(21): Show |
a0000a0003a0010others(12): Show | a0000c0065a0000c0068a0003c0002others(17): Show | a0000c0065t0001a0000c0068t0001a0003c0002t0001others(17): Show | a0000c0065t0001g0041 a0000c0068t0001g0031 a0003c0002t0001g0028 others(21): Show |
24 | 186 | 0.1290 | -13 | c.649 others(30): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 48/79 | chr20 | TogoVar | |||||||
LAMB1_chr7_107918799_108008161 | 107935347 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(100): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(18): Show | a0001c0001t0001g0263 a0001c0002t0001g0014 a0001c0002t0001g0049 others(100): Show |
103 | 364 | 0.2830 | -13 | c.418 others(28): Show |
LAMB1 | ENSG00000091136.15 | transcript | ENST00000222399.11 | protein_coding | 27/33 | chr7 | TogoVar | |||||||
LAMB4_chr7_108018553_108135361 | 108043545 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG01978.hp1 HG02056.hp2 HG03927.hp1 others(5): Show |
a0001a0002a0015others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(3): Show | a0001c0001t0001g0167 a0001c0001t0001g0202 a0001c0001t0001g0275 others(5): Show |
8 | 292 | 0.0274 | -13 | c.447 others(30): Show |
LAMB4 | ENSG00000091128.13 | transcript | ENST00000388781.8 | protein_coding | 29/33 | chr7 | TogoVar | |||||||
LAMB4_chr7_108018553_108135361 | 108096939 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01981.hp2 HG02040.hp2 HG02055.hp1 others(8): Show |
a0001a0005a0018 | a0001c0001a0001c0066a0005c0008others(1): Show | a0001c0001t0001a0001c0066t0001a0005c0008t0002others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0104 others(8): Show |
11 | 292 | 0.0377 | -13 | c.136 others(32): Show |
LAMB4 | ENSG00000091128.13 | transcript | ENST00000388781.8 | protein_coding | 11/33 | chr7 | TogoVar | |||||||
LAMB4_chr7_108018553_108135361 | 108131241 | CTTTTTCA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02922.hp1 HG03486.hp1 |
a0007a0040 | a0007c0019a0040c0031 | a0007c0019t0002a0040c0031t0002 | a0007c0019t0002g0005 a0040c0031t0002g0006 |
2 | 292 | 0.0069 | -13 | c.-98 others(22): Show |
LAMB4 | ENSG00000091128.13 | transcript | ENST00000388781.8 | protein_coding | 881 | chr7 | TogoVar | |||||||
LAMC1_chr1_183018420_183150592 | 183023140 | TCCCCTCC others(6): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00597.hp2 others(57): Show |
a0001a0016a0019 | a0001c0003a0001c0005a0001c0040others(4): Show | a0001c0003t0002a0001c0003t0003a0001c0003t0006others(11): Show | a0001c0003t0002g0255 a0001c0003t0002g0256 a0001c0003t0002g0265 others(55): Show |
60 | 308 | 0.1948 | -13 | c.-57 others(22): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 279 | chr1 | TogoVar | |||||||
LAMC1_chr1_183018420_183150592 | 183079232 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0004 | a0004c0007 | a0004c0007t0005 | a0004c0007t0005g0219 | 1 | 308 | 0.0033 | -13 | c.419 others(32): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LAMC3_chr9_131004174_131099473 | 131077676 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG02647.hp2 |
a0005a0025 | a0005c0001a0025c0223 | a0005c0001t0001a0025c0223t0002 | a0005c0001t0001g0249 a0025c0223t0002g0026 |
2 | 360 | 0.0056 | -13 | c.377 others(30): Show |
LAMC3 | ENSG00000050555.19 | transcript | ENST00000361069.9 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LAMP3_chr3_183117215_183167734 | 183140410 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG01074.hp1 others(60): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0123 a0001c0001t0001g0146 others(55): Show |
63 | 372 | 0.1694 | -13 | c.946 others(28): Show |
LAMP3 | ENSG00000078081.8 | transcript | ENST00000265598.8 | protein_coding | 4/5 | chr3 | TogoVar | |||||||
LAMP3_chr3_183117215_183167734 | 183149573 | AAATATAT others(6): Show |
A | intron_variant | MODIFIER | NA18965.hp1 NA18967.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0113 a0001c0003t0001g0114 |
2 | 372 | 0.0054 | -13 | c.888 others(30): Show |
LAMP3 | ENSG00000078081.8 | transcript | ENST00000265598.8 | protein_coding | 3/5 | chr3 | TogoVar | |||||||
LAMP5_chr20_9509590_9535524 | 9509994 | AAACAAAA others(6): Show |
A | upstream_gene_variant | MODIFIER | HG02976.hp1 NA18987.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0249 a0002c0002t0002g0363 |
2 | 448 | 0.0045 | -13 | c.-48 others(24): Show |
LAMP5 | ENSG00000125869.10 | transcript | ENST00000246070.3 | protein_coding | 4595 | chr20 | TogoVar | |||||||
LANCL1_chr2_210426251_210481759 | 210478931 | CCCCTCCC others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0261 | 1 | 358 | 0.0028 | -13 | c.-23 others(24): Show |
LANCL1 | ENSG00000115365.13 | transcript | ENST00000450366.7 | protein_coding | 2173 | chr2 | TogoVar | |||||||
LANCL2_chr7_55360337_55438737 | 55401515 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02647.hp1 HG03041.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0026 | a0001c0001t0005g0017 a0001c0001t0005g0292 a0001c0001t0005g0293 others(4): Show |
7 | 352 | 0.0199 | -13 | c.825 others(28): Show |
LANCL2 | ENSG00000132434.10 | transcript | ENST00000254770.3 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LAPTM4B_chr8_97770788_97858013 | 97795837 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | NA18949.hp1 NA18954.hp2 NA19087.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0273 a0001c0001t0001g0291 a0001c0001t0001g0298 others(1): Show |
4 | 380 | 0.0105 | -13 | c.100 others(30): Show |
LAPTM4B | ENSG00000104341.17 | transcript | ENST00000521545.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LARGE1_chr22_33267509_33925476 | 33282346 | AAAAACAA others(6): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG02486.hp1 others(6): Show |
a0001 | a0001c0003a0001c0008a0001c0009others(1): Show | a0001c0003t0003a0001c0003t0009a0001c0003t0011others(6): Show | a0001c0003t0003g0062 a0001c0003t0009g0016 a0001c0003t0011g0063 others(6): Show |
9 | 110 | 0.0818 | -13 | c.187 others(30): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 13/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33324268 | ACAAAAAC others(6): Show |
A | intron_variant | MODIFIER | HG02683.hp1 HG02970.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0013a0001c0008t0012 | a0001c0001t0013g0095 a0001c0008t0012g0094 |
2 | 110 | 0.0182 | -13 | c.128 others(32): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 10/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33457293 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG01099.hp2 others(16): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0057 others(16): Show |
19 | 110 | 0.1727 | -13 | c.788 others(32): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 6/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33611068 | GCAGAAGC others(6): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG01243.hp1 HG02257.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0020 | a0001c0001t0004a0001c0001t0005a0001c0001t0015others(3): Show | a0001c0001t0004g0017 a0001c0001t0005g0076 a0001c0001t0015g0004 others(3): Show |
6 | 110 | 0.0546 | -13 | c.492 others(30): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 4/14 | chr22 | TogoVar |