| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GLIS2_chr16_4311067_4344595 | 4344478 | C | CTGTGAGA others(227): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0177 | 1 | 395 | 0.0025 | 234 | c.*69 others(245): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4884 | chr16 | TogoVar | |||||||
| GPC5_chr13_91393621_92872237 | 92538793 | C | CATTCTTT others(227): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 42 | 0.0238 | 234 | c.156 others(257): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| GPHN_chr14_66503147_67186803 | 66683369 | T | TGTTCATA others(227): Show |
intron_variant | MODIFIER | HG01167.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152a0001c0001t0001g0223 | 2 | 234 | 0.0086 | 234 | c.143 others(251): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 2/22 | chr14 | TogoVar | |||||||
| GPR157_chr1_9095305_9134102 | 9116182 | A | ATATTATA others(227): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0270 | 1 | 404 | 0.0025 | 234 | c.384 others(251): Show |
GPR157 | ENSG00000180758.12 | transcript | ENST00000377411.5 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
| GPR157_chr1_9095305_9134102 | 9116318 | A | ATTATATA others(227): Show |
intron_variant | MODIFIER | HG01891.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0224a0001c0001t0008g0216 | 2 | 404 | 0.0050 | 234 | c.384 others(251): Show |
GPR157 | ENSG00000180758.12 | transcript | ENST00000377411.5 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
| GPR161_chr1_168074542_168141930 | 168119275 | T | TATATACA others(227): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0058 | a0001c0002t0058g0314 | 1 | 340 | 0.0029 | 234 | c.-44 others(253): Show |
GPR161 | ENSG00000143147.15 | transcript | ENST00000682931.1 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
| GPR35_chr2_240620480_240638159 | 240626003 | T | TGGGGGTC others(227): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00642.hp2 others(34): Show |
a0001a0011 | a0001c0001a0001c0015a0011c0014 | a0001c0001t0003a0001c0001t0015a0001c0001t0016others(3): Show | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0021others(21): Show | 37 | 400 | 0.0925 | 234 | c.-5+ others(247): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| GPR35_chr2_240620480_240638159 | 240626003 | T | TGGGGGTC others(227): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0076 | 1 | 400 | 0.0025 | 234 | c.-5+ others(247): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| GPR35_chr2_240620480_240638159 | 240626003 | T | TGGGGGTC others(227): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02071.hp1 NA18940.hp1 others(13): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0003a0001c0010t0003 | a0001c0001t0003g0007a0001c0001t0003g0030a0001c0001t0003g0036others(3): Show | 16 | 400 | 0.0400 | 234 | c.-5+ others(247): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| GRK5_chr10_119202571_119464745 | 119394382 | G | GTCTGTGT others(227): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02818.hp2 HG03540.hp1 |
a0004 | a0004c0006 | a0004c0006t0014a0004c0006t0067 | a0004c0006t0014g0061a0004c0006t0014g0069a0004c0006t0067g0146 | 3 | 202 | 0.0149 | 234 | c.262 others(251): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 323554 | G | GTGTGTGT others(227): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01109.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 155 | 0.0129 | 234 | c.-47 others(245): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4759 | chrX | TogoVar | |||||||
| HCN2_chr19_584881_622159 | 621020 | T | TGCCGGGA others(227): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00738.hp2 HG04204.hp2 |
a0001a0002 | a0001c0046a0002c0053a0002c0057 | a0001c0046t0002a0002c0053t0002a0002c0057t0002 | a0001c0046t0002g0037a0002c0053t0002g0300a0002c0057t0002g0260 | 3 | 408 | 0.0074 | 234 | c.*45 others(245): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 3862 | chr19 | TogoVar | |||||||
| HIVEP3_chr1_41501365_41923922 | 41544953 | T | TCTACCAC others(227): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0005 | a0005c0005 | a0005c0005t0017 | a0005c0005t0017g0012 | 1 | 134 | 0.0075 | 234 | c.520 others(255): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
| HSF1_chr8_144286604_144319720 | 144313660 | G | GCGCCTCC others(227): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0245 | 1 | 330 | 0.0030 | 234 | c.124 others(249): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1360876 | T | TCTCTGTC others(227): Show |
intron_variant | MODIFIER | HG02738.hp2 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0003g0014 | 2 | 115 | 0.0174 | 234 | c.759 others(251): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| IQCB1_chr3_121764761_121840060 | 121786167 | T | TAAGAAAA others(227): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0162 | 1 | 308 | 0.0033 | 234 | c.127 others(253): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 12/14 | chr3 | TogoVar | |||||||
| IQCB1_chr3_121764761_121840060 | 121786168 | C | CAGAAAAG others(227): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0155 | 1 | 308 | 0.0033 | 234 | c.127 others(253): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 12/14 | chr3 | TogoVar | |||||||
| IQCB1_chr3_121764761_121840060 | 121786168 | C | CAGAAAAG others(227): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0153 | 1 | 308 | 0.0033 | 234 | c.127 others(253): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 12/14 | chr3 | TogoVar | |||||||
| IQCB1_chr3_121764761_121840060 | 121786168 | C | CAGAAAAG others(227): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0164 | 1 | 308 | 0.0033 | 234 | c.127 others(253): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 12/14 | chr3 | TogoVar | |||||||
| IQCB1_chr3_121764761_121840060 | 121786168 | C | CAGAAAAG others(227): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0154 | 1 | 308 | 0.0033 | 234 | c.127 others(253): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 12/14 | chr3 | TogoVar | |||||||
| IQCJ_chr3_159064319_159268747 | 159229783 | C | CCCCCCTC others(227): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 252 | 0.0040 | 234 | c.10- others(251): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
| IQCJ_chr3_159064319_159268747 | 159229783 | C | CCCCCTCC others(227): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 252 | 0.0040 | 234 | c.10- others(251): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
| IQCJ_chr3_159064319_159268747 | 159229783 | C | CCCCCTCC others(227): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 252 | 0.0040 | 234 | c.10- others(251): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
| IRAG2_chr12_25047706_25113335 | 25106528 | T | TCAGACTC others(227): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0184 | 1 | 344 | 0.0029 | 234 | c.114 others(251): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 20/21 | chr12 | TogoVar | |||||||
| JAKMIP1_chr4_6021199_6205549 | 6067649 | A | ACAGGTCA others(227): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 233 | 0.0043 | 234 | c.130 others(253): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 8/20 | chr4 | TogoVar | |||||||
| JAKMIP3_chr10_132060946_132189858 | 132161230 | G | GGGGGGCC others(227): Show |
intron_variant | MODIFIER | HG02027.hp2 NA19081.hp2 |
a0003 | a0003c0003a0003c0021 | a0003c0003t0001a0003c0021t0001 | a0003c0003t0001g0077a0003c0021t0001g0032 | 2 | 158 | 0.0127 | 234 | c.222 others(253): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| JAZF1_chr7_27825577_28185795 | 28110504 | A | AAAGGAAA others(227): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 206 | 0.0049 | 234 | c.115 others(253): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
| JPH2_chr20_44101590_44192188 | 44134467 | T | TATAAATA others(227): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0014 | a0001c0014t0092 | a0001c0014t0092g0288 | 1 | 338 | 0.0030 | 234 | c.117 others(255): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
| KALRN_chr3_124028369_124731325 | 124109915 | T | TATATATA others(227): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0072 | a0001c0072t0001 | a0001c0072t0001g0060 | 1 | 116 | 0.0086 | 234 | c.73+ others(251): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| KATNIP_chr16_27545144_27785344 | 27713826 | A | ATGTGTGT others(227): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03098.hp1 HG03139.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0002 | a0001c0005t0001g0144a0001c0005t0001g0145a0001c0005t0001g0146others(3): Show | 6 | 152 | 0.0395 | 234 | c.160 others(253): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| KCNMB2_chr3_178531436_178849429 | 178758206 | A | ATATCCAA others(227): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115 | 1 | 232 | 0.0043 | 234 | c.-67 others(253): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| KCNQ2_chr20_63395208_63477655 | 63432458 | C | CTCCACCC others(227): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01256.hp1 HG01258.hp2 others(9): Show |
a0001 | a0001c0002a0001c0003a0001c0008 | a0001c0002t0043a0001c0003t0013a0001c0003t0015others(4): Show | a0001c0002t0043g0009a0001c0003t0013g0292a0001c0003t0013g0296others(9): Show | 12 | 330 | 0.0364 | 234 | c.111 others(253): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 8/16 | chr20 | TogoVar | |||||||
| KCNQ2_chr20_63395208_63477655 | 63442845 | T | TCACCACC others(227): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01175.hp1 HG01257.hp2 others(1): Show |
a0002 | a0002c0011 | a0002c0011t0018 | a0002c0011t0018g0005a0002c0011t0018g0215a0002c0011t0018g0216 | 4 | 330 | 0.0121 | 234 | c.691 others(249): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
| KDM4C_chr9_6752973_7180648 | 6978591 | T | TTTTTTCT others(227): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00609.hp1 others(13): Show |
a0003a0005a0007others(7): Show | a0003c0035a0005c0018a0005c0037others(9): Show | a0003c0035t0007a0005c0018t0001a0005c0037t0001others(10): Show | a0003c0035t0007g0028a0005c0018t0001g0114a0005c0018t0001g0116others(13): Show | 16 | 266 | 0.0602 | 234 | c.922 others(251): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| KIAA0930_chr22_45187244_45245894 | 45229292 | C | CCACTCAC others(227): Show |
intron_variant | MODIFIER | HG02132.hp2 HG03491.hp1 |
a0001 | a0001c0001 | a0001c0001t0083a0001c0001t0164 | a0001c0001t0083g0045a0001c0001t0164g0050 | 2 | 398 | 0.0050 | 234 | c.64+ others(251): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
| KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(227): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 308 | 0.0033 | 234 | c.-25 others(253): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
| KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(227): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0010 | a0003c0010t0058 | a0003c0010t0058g0034 | 1 | 308 | 0.0033 | 234 | c.-25 others(253): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
| KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(227): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0123 | 1 | 308 | 0.0033 | 234 | c.-25 others(253): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
| KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(227): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 308 | 0.0033 | 234 | c.-25 others(253): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
| KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(227): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0186 | 1 | 308 | 0.0033 | 234 | c.-25 others(253): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
| KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(227): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 308 | 0.0033 | 234 | c.-25 others(253): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
| KIF25_chr6_167992671_168050091 | 168035444 | A | AGGCGGGA others(227): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03225.hp2 |
a0001a0004 | a0001c0003a0004c0005 | a0001c0003t0004a0004c0005t0004 | a0001c0003t0004g0069a0004c0005t0004g0001 | 2 | 375 | 0.0053 | 234 | c.317 others(251): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(227): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 370 | 0.0027 | 234 | c.-27 others(245): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
| LAMA5_chr20_62304065_62372312 | 62349826 | T | TGGCGGTG others(227): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0038 | a0038c0088 | a0038c0088t0001 | a0038c0088t0001g0013 | 1 | 186 | 0.0054 | 234 | c.956 others(251): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
| LEMD3_chr12_65164583_65253355 | 65194817 | C | CTTTAGAT others(227): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0027a0001c0001t0005g0030a0001c0001t0005g0031others(4): Show | 7 | 398 | 0.0176 | 234 | c.152 others(255): Show |
LEMD3 | ENSG00000174106.3 | transcript | ENST00000308330.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| LHPP_chr10_124456823_124619141 | 124610989 | C | CGGGTGAG others(227): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0101 | 1 | 260 | 0.0039 | 234 | c.717 others(251): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 858775 | G | GAGTGGTG others(227): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0063 | 1 | 294 | 0.0034 | 234 | c.153 others(253): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCCCC others(227): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01516.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0163a0001c0007t0001g0164a0001c0007t0001g0165 | 3 | 414 | 0.0073 | 234 | c.171 others(251): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
| LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCCCC others(227): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02148.hp1 HG02148.hp2 others(4): Show |
a0001a0015 | a0001c0001a0015c0040 | a0001c0001t0001a0015c0040t0001 | a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0250others(2): Show | 7 | 414 | 0.0169 | 234 | c.171 others(251): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
| LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCCCC others(227): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 414 | 0.0024 | 234 | c.171 others(251): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar |