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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LARP4_chr12_50395885_50485004 | 50446429 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 318 | 0.0031 | 26 | c.804 others(43): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LARS2_chr3_45383576_45554407 | 45484624 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 242 | 0.0041 | 26 | c.101 others(45): Show |
LARS2 | ENSG00000011376.12 | transcript | ENST00000645846.2 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LARS2_chr3_45383576_45554407 | 45484628 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG02071.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0034 a0001c0001t0004g0180 |
2 | 242 | 0.0083 | 26 | c.101 others(45): Show |
LARS2 | ENSG00000011376.12 | transcript | ENST00000645846.2 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LARS2_chr3_45383576_45554407 | 45484630 | A | AAAAAATA others(19): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0087 | 1 | 242 | 0.0041 | 26 | c.101 others(45): Show |
LARS2 | ENSG00000011376.12 | transcript | ENST00000645846.2 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LARS2_chr3_45383576_45554407 | 45484630 | A | AAAATATA others(19): Show |
intron_variant | MODIFIER | HG02896.hp1 NA19068.hp1 NA19074.hp2 |
a0001a0007 | a0001c0001a0001c0003a0007c0013 | a0001c0001t0003a0001c0003t0002a0007c0013t0004 | a0001c0001t0003g0149 a0001c0003t0002g0086 a0007c0013t0004g0171 |
3 | 242 | 0.0124 | 26 | c.101 others(45): Show |
LARS2 | ENSG00000011376.12 | transcript | ENST00000645846.2 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LARS2_chr3_45383576_45554407 | 45484630 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG02040.hp2 HG03688.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0117 a0001c0001t0004g0181 a0001c0001t0004g0182 |
3 | 242 | 0.0124 | 26 | c.101 others(45): Show |
LARS2 | ENSG00000011376.12 | transcript | ENST00000645846.2 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LARS2_chr3_45383576_45554407 | 45484631 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0188 | 1 | 242 | 0.0041 | 26 | c.101 others(45): Show |
LARS2 | ENSG00000011376.12 | transcript | ENST00000645846.2 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LAS1L_chrX_65507582_65539787 | 65514534 | G | GCACACAC others(19): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 203 | 0.0049 | 26 | c.207 others(43): Show |
LAS1L | ENSG00000001497.18 | transcript | ENST00000374811.8 | protein_coding | 13/13 | chrX | TogoVar | |||||||
LAS1L_chrX_65507582_65539787 | 65525765 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 203 | 0.0049 | 26 | c.957 others(41): Show |
LAS1L | ENSG00000001497.18 | transcript | ENST00000374811.8 | protein_coding | 7/13 | chrX | TogoVar | |||||||
LAT2_chr7_74205006_74234834 | 74214150 | A | AAATATAT others(19): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 344 | 0.0029 | 26 | c.-21 others(43): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LAT2_chr7_74205006_74234834 | 74214150 | A | ATGAAAAT others(19): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 344 | 0.0029 | 26 | c.-21 others(43): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
LAT2_chr7_74205006_74234834 | 74214165 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0023 | 1 | 344 | 0.0029 | 26 | c.-21 others(43): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LATS2_chr13_20968036_21066586 | 21007681 | T | TGTGTATA others(19): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 316 | 0.0032 | 26 | c.343 others(45): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 21007682 | A | ATGTGTAT others(19): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 316 | 0.0032 | 26 | c.343 others(45): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
LAX1_chr1_203760183_203781372 | 203770429 | A | AAGAGAGA others(19): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0379 | 1 | 422 | 0.0024 | 26 | c.90- others(39): Show |
LAX1 | ENSG00000122188.13 | transcript | ENST00000442561.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LAX1_chr1_203760183_203781372 | 203770433 | A | AAGAGAGA others(19): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01255.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0134 a0001c0001t0001g0152 a0001c0001t0001g0207 others(9): Show |
12 | 422 | 0.0284 | 26 | c.90- others(39): Show |
LAX1 | ENSG00000122188.13 | transcript | ENST00000442561.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LAX1_chr1_203760183_203781372 | 203770454 | A | AGAGAGAG others(19): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 422 | 0.0024 | 26 | c.90- others(39): Show |
LAX1 | ENSG00000122188.13 | transcript | ENST00000442561.7 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
LAYN_chr11_111535720_111566745 | 111563485 | A | ACAAGCAT others(19): Show |
downstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 298 | 0.0034 | 26 | c.*30 others(37): Show |
LAYN | ENSG00000204381.12 | transcript | ENST00000375614.7 | protein_coding | 1741 | chr11 | TogoVar | |||||||
LCA5L_chr21_39400728_39450778 | 39428578 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00558.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0019 a0001c0001t0001g0045 a0001c0001t0001g0068 others(9): Show |
12 | 340 | 0.0353 | 26 | c.-10 others(39): Show |
LCA5L | ENSG00000157578.14 | transcript | ENST00000288350.8 | protein_coding | 4/10 | chr21 | TogoVar | |||||||
LCA5L_chr21_39400728_39450778 | 39428598 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0094 |
2 | 340 | 0.0059 | 26 | c.-10 others(39): Show |
LCA5L | ENSG00000157578.14 | transcript | ENST00000288350.8 | protein_coding | 4/10 | chr21 | TogoVar | |||||||
LCA5L_chr21_39400728_39450778 | 39428598 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02155.hp1 HG03492.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0058 others(4): Show |
7 | 340 | 0.0206 | 26 | c.-10 others(39): Show |
LCA5L | ENSG00000157578.14 | transcript | ENST00000288350.8 | protein_coding | 4/10 | chr21 | TogoVar | |||||||
LCA5L_chr21_39400728_39450778 | 39428598 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 340 | 0.0029 | 26 | c.-10 others(39): Show |
LCA5L | ENSG00000157578.14 | transcript | ENST00000288350.8 | protein_coding | 4/10 | chr21 | TogoVar | |||||||
LCK_chr1_32246265_32291165 | 32272623 | A | AAGAGAGA others(19): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 274 | 0.0037 | 26 | c.-5- others(41): Show |
LCK | ENSG00000182866.18 | transcript | ENST00000336890.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LCLAT1_chr2_30442246_30649225 | 30461770 | C | CCTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02004.hp2 |
a0002 | a0002c0002 | a0002c0002t0015a0002c0002t0034 | a0002c0002t0015g0063 a0002c0002t0015g0082 a0002c0002t0034g0062 |
3 | 366 | 0.0082 | 26 | c.-5+ others(43): Show |
LCLAT1 | ENSG00000172954.14 | transcript | ENST00000379509.8 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
LCLAT1_chr2_30442246_30649225 | 30601671 | T | TGTAGAAA others(19): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01934.hp2 HG02257.hp2 others(12): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0012a0001c0001t0018a0001c0001t0030others(5): Show | a0001c0001t0012g0336 a0001c0001t0012g0337 a0001c0001t0012g0338 others(12): Show |
15 | 366 | 0.0410 | 26 | c.628 others(45): Show |
LCLAT1 | ENSG00000172954.14 | transcript | ENST00000379509.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LCLAT1_chr2_30442246_30649225 | 30604090 | T | TTCTTCTC others(19): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00597.hp1 others(63): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0002a0002c0002t0009a0002c0002t0010others(16): Show | a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 others(62): Show |
66 | 366 | 0.1803 | 26 | c.628 others(45): Show |
LCLAT1 | ENSG00000172954.14 | transcript | ENST00000379509.8 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
LCMT1_chr16_25106742_25183228 | 25179975 | C | CAAAAAAA others(19): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 348 | 0.0029 | 26 | c.*19 others(37): Show |
LCMT1 | ENSG00000205629.12 | transcript | ENST00000399069.8 | protein_coding | 1748 | chr16 | TogoVar | |||||||
LCMT2_chr15_43318649_43335573 | 43334633 | T | TTATATAT others(19): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01257.hp1 HG01258.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(10): Show |
16 | 410 | 0.0390 | 26 | c.-41 others(37): Show |
LCMT2 | ENSG00000168806.8 | transcript | ENST00000305641.7 | protein_coding | 4061 | chr15 | TogoVar | |||||||
LCN15_chr9_136754634_136769518 | 136767047 | T | TGACTCAC others(19): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0008 | 1 | 356 | 0.0028 | 26 | c.-25 others(37): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 2530 | chr9 | TogoVar | |||||||
LCN15_chr9_136754634_136769518 | 136769256 | A | ACCCCCGC others(19): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 356 | 0.0028 | 26 | c.-47 others(37): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4739 | chr9 | TogoVar | |||||||
LCN15_chr9_136754634_136769518 | 136769269 | T | TCCATGCA others(19): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG02083.hp2 HG02132.hp1 others(9): Show |
a0002a0004a0005 | a0002c0002a0002c0004a0004c0007others(1): Show | a0002c0002t0001a0002c0004t0001a0004c0007t0001others(1): Show | a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0014 others(3): Show |
12 | 356 | 0.0337 | 26 | c.-47 others(37): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4752 | chr9 | TogoVar | |||||||
LCN15_chr9_136754634_136769518 | 136769451 | A | ACCCCCCC others(19): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 356 | 0.0028 | 26 | c.-49 others(37): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4934 | chr9 | TogoVar | |||||||
LCN15_chr9_136754634_136769518 | 136769451 | A | ACCCCTCC others(19): Show |
upstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 356 | 0.0028 | 26 | c.-49 others(37): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4934 | chr9 | TogoVar | |||||||
LCORL_chr4_17836187_18026755 | 17939879 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0021 | a0021c0017 | a0021c0017t0006 | a0021c0017t0006g0273 | 1 | 292 | 0.0034 | 26 | c.430 others(45): Show |
LCORL | ENSG00000178177.17 | transcript | ENST00000635767.2 | protein_coding | 4/7 | chr4 | TogoVar | |||||||
LCOR_chr10_96827298_97000956 | 96916587 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0048 | 1 | 288 | 0.0035 | 26 | c.-18 others(45): Show |
LCOR | ENSG00000196233.14 | transcript | ENST00000421806.4 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LDAF1_chr16_21153674_21185616 | 21156996 | A | AACACACA others(19): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 390 | 0.0026 | 26 | c.-18 others(37): Show |
LDAF1 | ENSG00000011638.11 | transcript | ENST00000233047.9 | protein_coding | 1677 | chr16 | TogoVar | |||||||
LDAH_chr2_20679031_20828101 | 20716720 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG02135.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0111 a0001c0001t0001g0233 a0001c0001t0002g0037 others(5): Show |
8 | 258 | 0.0310 | 26 | c.704 others(45): Show |
LDAH | ENSG00000118961.15 | transcript | ENST00000237822.8 | protein_coding | 5/6 | chr2 | TogoVar | |||||||
LDB2_chr4_16496541_16903645 | 16538430 | A | AAAAACAA others(19): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 162 | 0.0062 | 26 | c.616 others(45): Show |
LDB2 | ENSG00000169744.13 | transcript | ENST00000304523.10 | protein_coding | 5/7 | chr4 | TogoVar | |||||||
LDB2_chr4_16496541_16903645 | 16659671 | G | GTGTGTAT others(19): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03225.hp2 HG03486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0031 others(2): Show |
5 | 162 | 0.0309 | 26 | c.236 others(45): Show |
LDB2 | ENSG00000169744.13 | transcript | ENST00000304523.10 | protein_coding | 2/7 | chr4 | TogoVar | |||||||
LDB2_chr4_16496541_16903645 | 16739622 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02647.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0048 a0002c0004t0001g0108 |
2 | 162 | 0.0124 | 26 | c.235 others(45): Show |
LDB2 | ENSG00000169744.13 | transcript | ENST00000304523.10 | protein_coding | 2/7 | chr4 | TogoVar | |||||||
LDHAL6A_chr11_18450856_18484601 | 18467904 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0318 | 1 | 420 | 0.0024 | 26 | c.418 others(43): Show |
LDHAL6A | ENSG00000166800.11 | transcript | ENST00000280706.3 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LDHAL6A_chr11_18450856_18484601 | 18467926 | C | CACATATA others(19): Show |
intron_variant | MODIFIER | HG02965.hp1 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0305 a0001c0002t0013g0306 |
2 | 420 | 0.0048 | 26 | c.418 others(43): Show |
LDHAL6A | ENSG00000166800.11 | transcript | ENST00000280706.3 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36128117 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02055.hp2 HG02056.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0021others(1): Show | a0001c0001t0001g0065 a0001c0001t0004g0189 a0001c0001t0021g0170 others(4): Show |
7 | 236 | 0.0297 | 26 | c.454 others(45): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36140992 | T | TTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0072 | 1 | 236 | 0.0042 | 26 | c.454 others(45): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LDLRAD4_chr18_13213760_13657751 | 13578827 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03927.hp1 HG03927.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0024others(1): Show | a0001c0001t0002g0056 a0001c0001t0011g0105 a0001c0001t0024g0161 others(1): Show |
4 | 178 | 0.0225 | 26 | c.182 others(45): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LEF1_chr4_108042548_108173932 | 108086829 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01099.hp2 HG01516.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0002g0070 a0001c0001t0002g0077 a0001c0001t0002g0078 others(9): Show |
12 | 264 | 0.0455 | 26 | c.547 others(43): Show |
LEF1 | ENSG00000138795.10 | transcript | ENST00000265165.6 | protein_coding | 4/11 | chr4 | TogoVar | |||||||
LEMD3_chr12_65164583_65253355 | 65193732 | C | CTGTGTGT others(19): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0279 | 1 | 398 | 0.0025 | 26 | c.152 others(47): Show |
LEMD3 | ENSG00000174106.3 | transcript | ENST00000308330.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LEMD3_chr12_65164583_65253355 | 65194817 | C | CTTTAGAT others(19): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18955.hp1 NA18966.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 a0001c0002t0001g0292 a0001c0002t0001g0293 others(5): Show |
9 | 398 | 0.0226 | 26 | c.152 others(47): Show |
LEMD3 | ENSG00000174106.3 | transcript | ENST00000308330.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LEPROT_chr1_65415668_65441007 | 65417065 | C | CATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00621.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(19): Show |
35 | 402 | 0.0871 | 26 | c.-36 others(37): Show |
LEPROT | ENSG00000213625.9 | transcript | ENST00000371065.9 | protein_coding | 3602 | chr1 | TogoVar | |||||||
LEPR_chr1_65415668_65646559 | 65417065 | C | CATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG02040.hp2 HG02129.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0003a0001c0008t0006a0002c0002t0001others(3): Show | a0001c0001t0003g0001 a0001c0008t0006g0078 a0002c0002t0001g0031 others(7): Show |
10 | 216 | 0.0463 | 26 | c.-37 others(37): Show |
LEPR | ENSG00000116678.20 | transcript | ENST00000349533.11 | protein_coding | 3602 | chr1 | TogoVar |