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 | 117971094 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02717.hp1 |
a0001 | a0001c0008a0001c0014 | a0001c0008t0088a0001c0014t0072 | a0001c0008t0088g0175 a0001c0014t0072g0064 |
2 | 196 | 0.0102 | 15 | c.-28 others(26): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 2105 | chr12 | TogoVar | |||||||
KTN1_chr14_55575207_55689579 | 55646460 | T | TTTTCCTT others(8): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG01081.hp2 others(21): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0094 a0001c0001t0001g0107 a0001c0001t0001g0127 others(21): Show |
24 | 314 | 0.0764 | 15 | c.217 others(32): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 18/43 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KTN1_chr14_55575207_55689579 | 55657397 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0086 | 1 | 314 | 0.0032 | 15 | c.289 others(34): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 29/43 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KYAT1_chr9_128827942_128886950 | 128832897 | A | AAACAACA others(8): Show |
downstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0241 | 1 | 326 | 0.0031 | 15 | c.*68 others(24): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 44 | chr9 | TogoVar | |||||||
KYAT1_chr9_128827942_128886950 | 128865351 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 | 1 | 326 | 0.0031 | 15 | c.-7+ others(32): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
KYAT1_chr9_128827942_128886950 | 128865355 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 326 | 0.0031 | 15 | c.-7+ others(32): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
KYAT1_chr9_128827942_128886950 | 128865357 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 326 | 0.0031 | 15 | c.-7+ others(32): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
KYAT1_chr9_128827942_128886950 | 128865359 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 326 | 0.0031 | 15 | c.-7+ others(32): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
KYAT1_chr9_128827942_128886950 | 128865359 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0179 a0001c0001t0004g0180 |
2 | 326 | 0.0061 | 15 | c.-7+ others(32): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
KYAT1_chr9_128827942_128886950 | 128865359 | A | ATATATTT others(8): Show |
intron_variant | MODIFIER | HG02273.hp1 NA19004.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0016 a0001c0001t0001g0146 a0001c0001t0002g0225 |
3 | 326 | 0.0092 | 15 | c.-7+ others(32): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
KYAT1_chr9_128827942_128886950 | 128865359 | A | ATATTTTT others(8): Show |
intron_variant | MODIFIER | HG02897.hp2 NA18962.hp1 NA18984.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 a0001c0001t0002g0218 a0001c0001t0002g0219 others(1): Show |
4 | 326 | 0.0123 | 15 | c.-7+ others(32): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
KYAT1_chr9_128827942_128886950 | 128865359 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0002g0164 others(1): Show |
4 | 326 | 0.0123 | 15 | c.-7+ others(32): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
KYAT3_chr1_88930779_88997629 | 88948091 | C | CAAACAAA others(8): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00741.hp2 HG01168.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0086 a0001c0002t0002g0089 a0001c0002t0002g0090 others(4): Show |
7 | 312 | 0.0224 | 15 | c.114 others(32): Show |
KYAT3 | ENSG00000137944.18 | transcript | ENST00000260508.9 | protein_coding | 11/13 | chr1 | TogoVar | |||||||
KYNU_chr2_142872664_143060833 | 143028848 | C | CAAACAAA others(8): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0065 | a0002c0002t0065g0278 | 1 | 332 | 0.0030 | 15 | c.903 others(30): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KYNU_chr2_142872664_143060833 | 143032741 | G | GTGTGTGT others(8): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0006 | a0006c0006 | a0006c0006t0020 | a0006c0006t0020g0061 | 1 | 332 | 0.0030 | 15 | c.956 others(30): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KY_chr3_134594923_134656022 | 134612795 | G | GTGTGTGT others(8): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 294 | 0.0034 | 15 | c.711 others(32): Show |
KY | ENSG00000174611.12 | transcript | ENST00000423778.7 | protein_coding | 8/10 | chr3 | TogoVar | |||||||
L1CAM_chrX_153856516_153891173 | 153859490 | A | AGGAAGGA others(8): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0172 | 1 | 283 | 0.0035 | 15 | c.*31 others(26): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 2025 | chrX | TogoVar | |||||||
L1CAM_chrX_153856516_153891173 | 153875429 | G | GTGGGGCG others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02886.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0004t0001 | a0001c0001t0001g0155 a0001c0001t0005g0154 a0001c0001t0005g0158 others(1): Show |
4 | 283 | 0.0141 | 15 | c.76+ others(28): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 2/28 | chrX | TogoVar | |||||||
L1TD1_chr1_62189849_62217328 | 62197397 | T | TTTATATA others(8): Show |
intron_variant | MODIFIER | NA18960.hp1 NA19082.hp1 |
a0002 | a0002c0007 | a0002c0007t0009 | a0002c0007t0009g0360 a0002c0007t0009g0361 |
2 | 414 | 0.0048 | 15 | c.-11 others(32): 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(8): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01891.hp2 HG03098.hp2 others(1): Show |
a0002a0005 | a0002c0002a0005c0006 | a0002c0002t0003a0005c0006t0008 | a0002c0002t0003g0169 a0002c0002t0003g0172 a0002c0002t0003g0191 others(1): Show |
4 | 414 | 0.0097 | 15 | c.-11 others(34): 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(8): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0177 | 1 | 414 | 0.0024 | 15 | c.-11 others(34): 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(8): Show |
intron_variant | MODIFIER | NA18974.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 a0001c0001t0001g0262 |
2 | 422 | 0.0047 | 15 | c.863 others(32): Show |
L3MBTL1 | ENSG00000185513.18 | transcript | ENST00000418998.7 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
L3MBTL2_chr22_41200312_41236271 | 41211557 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00741.hp1 HG01361.hp1 others(23): Show |
a0001a0003 | a0001c0002a0001c0009a0003c0005 | a0001c0002t0002a0001c0002t0004a0001c0009t0002others(2): Show | a0001c0002t0002g0049 a0001c0002t0002g0080 a0001c0002t0002g0103 others(20): Show |
26 | 370 | 0.0703 | 15 | c.262 others(32): Show |
L3MBTL2 | ENSG00000100395.15 | transcript | ENST00000216237.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 5968697 | T | TAAATAAA others(8): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0082 | 1 | 94 | 0.0106 | 15 | c.161 others(32): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 17/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6005345 | C | CAAAAACA others(8): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01081.hp2 others(42): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0002g0027 others(42): Show |
45 | 94 | 0.4787 | 15 | c.144 others(36): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 16/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6072865 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03516.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0001 | a0001c0001t0005g0075 a0002c0002t0001g0079 |
2 | 94 | 0.0213 | 15 | c.144 others(34): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 16/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6185960 | C | CTTTATTT others(8): Show |
intron_variant | MODIFIER | HG03471.hp1 HG03834.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0069 a0002c0002t0001g0042 |
2 | 94 | 0.0213 | 15 | c.982 others(34): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 12/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6222949 | T | TTATAATA others(8): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01081.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006 | a0001c0001t0004g0007 a0001c0001t0005g0075 a0001c0001t0006g0093 |
3 | 94 | 0.0319 | 15 | c.785 others(32): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 10/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6285809 | A | ATATTATT others(8): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0091 | 1 | 94 | 0.0106 | 15 | c.127 others(34): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 4/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6391752 | A | AACTACTA others(8): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0093 | 1 | 94 | 0.0106 | 15 | c.-91 others(34): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 1/18 | chr18 | TogoVar | |||||||
LACTBL1_chr1_22948043_22977866 | 22950371 | T | TTTATTAT others(8): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(184): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0002c0004others(12): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 others(133): Show |
187 | 450 | 0.4156 | 15 | c.*26 others(26): Show |
LACTBL1 | ENSG00000215906.9 | transcript | ENST00000426928.7 | protein_coding | 2671 | chr1 | TogoVar | |||||||
LAIR1_chr19_54346384_54369931 | 54350727 | A | ATTATTTA others(8): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG01167.hp1 HG01516.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 a0001c0001t0006g0098 a0001c0001t0006g0099 others(1): Show |
7 | 462 | 0.0152 | 15 | c.*45 others(26): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 656 | chr19 | TogoVar | |||||||
LAMA1_chr18_6936742_7122797 | 7115814 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19002.hp1 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 a0001c0001t0001g0166 |
2 | 278 | 0.0072 | 15 | c.61+ others(30): Show |
LAMA1 | ENSG00000101680.16 | transcript | ENST00000389658.4 | protein_coding | 1/62 | chr18 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 128921697 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0003 | a0003c0051 | a0003c0051t0001 | a0003c0051t0001g0008 | 1 | 88 | 0.0114 | 15 | c.112 others(34): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129066038 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0004 | a0002c0004t0007 | a0002c0004t0007g0024 | 1 | 88 | 0.0114 | 15 | c.396 others(32): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 3/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129210003 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02451.hp1 |
a0003a0011 | a0003c0048a0011c0008 | a0003c0048t0003a0011c0008t0002 | a0003c0048t0003g0013 a0011c0008t0002g0084 |
2 | 88 | 0.0227 | 15 | c.178 others(36): 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(8): Show |
intron_variant | MODIFIER | HG02809.hp1 NA18946.hp1 NA18946.hp2 others(1): Show |
a0001a0016a0024 | a0001c0067a0001c0068a0016c0024others(1): Show | a0001c0067t0001a0001c0068t0003a0016c0024t0004others(1): Show | a0001c0067t0001g0073 a0001c0068t0003g0069 a0016c0024t0004g0055 others(1): Show |
4 | 88 | 0.0455 | 15 | c.178 others(36): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 12/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129446514 | A | AGAGGGGA others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02559.hp1 others(11): Show |
a0002a0003a0004others(9): Show | a0002c0026a0003c0051a0004c0002others(10): Show | a0002c0026t0002a0003c0051t0001a0004c0002t0002others(10): Show | a0002c0026t0002g0016 a0003c0051t0001g0008 a0004c0002t0002g0083 others(11): Show |
14 | 88 | 0.1591 | 15 | c.642 others(32): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 45/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA3_chr18_23684453_23960066 | 23687746 | T | TGTGTGTG others(8): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 280 | 0.0036 | 15 | c.-19 others(26): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 1706 | chr18 | TogoVar | |||||||
LAMA3_chr18_23684453_23960066 | 23704848 | A | AAAGTATT others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(71): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(15): Show | a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0155 others(71): Show |
74 | 280 | 0.2643 | 15 | c.295 others(32): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 1/74 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LAMA4_chr6_112102931_112259567 | 112162965 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02055.hp1 HG03453.hp2 others(1): Show |
a0001a0002a0015 | a0001c0011a0002c0006a0015c0049 | a0001c0011t0003a0002c0006t0002a0015c0049t0002 | a0001c0011t0003g0009 a0002c0006t0002g0023 a0002c0006t0002g0199 others(1): Show |
4 | 314 | 0.0127 | 15 | c.166 others(34): Show |
LAMA4 | ENSG00000112769.20 | transcript | ENST00000230538.12 | protein_coding | 13/38 | chr6 | TogoVar | |||||||
LAMA4_chr6_112102931_112259567 | 112190947 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0161 | 1 | 314 | 0.0032 | 15 | c.718 others(30): Show |
LAMA4 | ENSG00000112769.20 | transcript | ENST00000230538.12 | protein_coding | 6/38 | chr6 | TogoVar | |||||||
LAMA4_chr6_112102931_112259567 | 112190985 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0062 | 1 | 314 | 0.0032 | 15 | c.718 others(30): Show |
LAMA4 | ENSG00000112769.20 | transcript | ENST00000230538.12 | protein_coding | 6/38 | chr6 | TogoVar | |||||||
LAMA4_chr6_112102931_112259567 | 112206948 | A | AAAACAAA others(8): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0023 | a0001c0023t0003 | a0001c0023t0003g0302 | 1 | 314 | 0.0032 | 15 | c.422 others(28): Show |
LAMA4 | ENSG00000112769.20 | transcript | ENST00000230538.12 | protein_coding | 4/38 | chr6 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62308755 | G | GGACTGAG others(8): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0022 | a0022c0022 | a0022c0022t0001 | a0022c0022t0001g0155 | 1 | 186 | 0.0054 | 15 | c.*56 others(24): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 309 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62320836 | A | AGGGCGCC others(8): Show |
conservative_inframe_insertion | MODERATE | HG02040.hp2 | a0053 | a0053c0076 | a0053c0076t0001 | a0053c0076t0001g0160 | 1 | 186 | 0.0054 | 15 | c.653 others(24): Show |
p.Ala others(30): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 49/80 | 6617/11426 | 6550/11088 | 2184/3695 | chr20 | TogoVar | |||
LAMA5_chr20_62304065_62372312 | 62321705 | A | AGGCCAGC others(8): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0132 | 1 | 186 | 0.0054 | 15 | c.649 others(32): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 48/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62325115 | G | GGATGAGG others(8): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 186 | 0.0054 | 15 | c.552 others(32): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 41/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62325115 | G | GGATGAGG others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(113): Show |
a0001a0002a0003others(60): Show | a0001c0001a0001c0005a0001c0007others(83): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(83): Show | a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0105 others(113): Show |
116 | 186 | 0.6237 | 15 | c.552 others(32): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 41/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62343774 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02572.hp2 |
a0045a0067 | a0045c0121a0067c0133 | a0045c0121t0006a0067c0133t0001 | a0045c0121t0006g0076 a0067c0133t0001g0057 |
2 | 186 | 0.0108 | 15 | c.147 others(34): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 11/79 | chr20 | TogoVar |