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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ELMO1_chr7_36847906_37453864 | 37092366 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0072 | 1 | 92 | 0.0109 | 15 | c.130 others(34): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 15/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37321716 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02886.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0005 a0001c0001t0004g0036 a0001c0001t0006g0004 others(2): Show |
5 | 92 | 0.0544 | 15 | c.79- others(30): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37437979 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0053 | 1 | 92 | 0.0109 | 15 | c.-74 others(34): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GCGGGTGT others(8): Show |
upstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 312 | 0.0032 | 15 | c.-47 others(26): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | |||||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GGGGGCGG others(8): Show |
upstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 312 | 0.0032 | 15 | c.-47 others(26): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | |||||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GGGGGCGT others(8): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 312 | 0.0032 | 15 | c.-47 others(26): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | |||||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GGGGGGGG others(8): Show |
upstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 312 | 0.0032 | 15 | c.-47 others(26): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | |||||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GGGGGGGG others(8): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 312 | 0.0032 | 15 | c.-47 others(26): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | |||||||
ELMOD1_chr11_107586147_107671779 | 107599755 | A | AAAAAAAG others(8): Show |
intron_variant | MODIFIER | HG01934.hp1 NA18949.hp1 NA18989.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0007 | a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0002t0007g0217 |
3 | 342 | 0.0088 | 15 | c.-86 others(32): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELMOD1_chr11_107586147_107671779 | 107655573 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0237 |
2 | 342 | 0.0059 | 15 | c.699 others(30): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELMOD3_chr2_85349769_85396748 | 85364825 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 386 | 0.0026 | 15 | c.199 others(32): Show |
ELMOD3 | ENSG00000115459.18 | transcript | ENST00000409013.8 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ELN_chr7_74023173_74074907 | 74058179 | C | CCTCCTCC others(8): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0107 | 1 | 366 | 0.0027 | 15 | c.141 others(32): Show |
ELN | ENSG00000049540.19 | transcript | ENST00000252034.12 | protein_coding | 22/32 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ELOA_chr1_23738471_23767059 | 23758251 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 400 | 0.0025 | 15 | c.225 others(34): Show |
ELOA | ENSG00000011007.13 | transcript | ENST00000613537.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELOC_chr8_73940119_73977191 | 73971032 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 404 | 0.0025 | 15 | c.-51 others(32): Show |
ELOC | ENSG00000154582.18 | transcript | ENST00000520242.6 | protein_coding | 1/3 | chr8 | TogoVar | |||||||
ELOC_chr8_73940119_73977191 | 73975355 | G | GTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | NA18949.hp2 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0246 a0001c0001t0004g0248 |
2 | 404 | 0.0050 | 15 | c.-33 others(26): Show |
ELOC | ENSG00000154582.18 | transcript | ENST00000520242.6 | protein_coding | 3165 | chr8 | TogoVar | |||||||
ELOC_chr8_73940119_73977191 | 73976656 | C | CGGGGCGA others(8): Show |
upstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 404 | 0.0025 | 15 | c.-46 others(26): Show |
ELOC | ENSG00000154582.18 | transcript | ENST00000520242.6 | protein_coding | 4466 | chr8 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 10978304 | T | TATATATA others(8): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 380 | 0.0026 | 15 | c.*54 others(26): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 2454 | chr6 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 10978306 | T | TATATATA others(8): Show |
downstream_gene_variant | MODIFIER | NA18987.hp1 NA19001.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0033 a0001c0001t0003g0316 |
2 | 380 | 0.0053 | 15 | c.*54 others(26): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 2452 | chr6 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 11029223 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0006 | a0006c0006 | a0006c0006t0024 | a0006c0006t0024g0310 | 1 | 380 | 0.0026 | 15 | c.3+1 others(30): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL5_chr6_53262404_53353950 | 53304436 | C | CTTTTATT others(8): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0305 a0001c0001t0009g0306 |
2 | 320 | 0.0063 | 15 | c.-8- others(30): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL5_chr6_53262404_53353950 | 53306312 | A | AGGGGAGA others(8): Show |
intron_variant | MODIFIER | HG01952.hp1 HG01975.hp2 HG02738.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0217 others(2): Show |
5 | 320 | 0.0156 | 15 | c.-8- others(32): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110042850 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG00735.hp2 HG01255.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0115 a0001c0001t0002g0065 a0001c0001t0002g0189 others(24): Show |
27 | 338 | 0.0799 | 15 | c.*84 others(26): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2995 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110044270 | T | TAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG01975.hp2 HG02258.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0021others(4): Show | a0001c0001t0007g0079 a0001c0001t0007g0158 a0001c0001t0007g0171 others(9): Show |
12 | 338 | 0.0355 | 15 | c.*70 others(26): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1575 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110061549 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02257.hp2 HG02280.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0159 others(18): Show |
21 | 338 | 0.0621 | 15 | c.222 others(32): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084588 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0017 | 1 | 338 | 0.0030 | 15 | c.221 others(34): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084589 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG03831.hp1 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0213 a0001c0001t0002g0308 |
2 | 338 | 0.0059 | 15 | c.221 others(34): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110097305 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01361.hp2 NA18941.hp1 NA18999.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0031 | a0001c0001t0001g0125 a0001c0001t0001g0276 a0001c0001t0005g0092 others(1): Show |
4 | 338 | 0.0118 | 15 | c.221 others(32): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117899 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01361.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0008 |
2 | 338 | 0.0059 | 15 | c.90- others(32): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117903 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0331 | 1 | 338 | 0.0030 | 15 | c.90- others(32): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117903 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0063 | 1 | 338 | 0.0030 | 15 | c.90- others(32): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117903 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0317 | 1 | 338 | 0.0030 | 15 | c.90- others(32): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL7_chr5_60746791_60849269 | 60819020 | A | AGAGGGGA others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01074.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0246 a0001c0001t0010g0247 a0001c0001t0010g0248 |
3 | 258 | 0.0116 | 15 | c.-85 others(34): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
ELOVL7_chr5_60746791_60849269 | 60819099 | G | GGGAGAGG others(8): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 | 1 | 258 | 0.0039 | 15 | c.-85 others(34): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
ELP1_chr9_108862517_108939124 | 108900843 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02129.hp2 HG02809.hp2 others(9): Show |
a0002a0016a0022 | a0002c0003a0016c0024a0022c0044 | a0002c0003t0001a0002c0003t0007a0002c0003t0013others(2): Show | a0002c0003t0001g0030 a0002c0003t0001g0034 a0002c0003t0001g0035 others(8): Show |
12 | 416 | 0.0289 | 15 | c.201 others(32): Show |
ELP1 | ENSG00000070061.16 | transcript | ENST00000374647.10 | protein_coding | 18/36 | chr9 | TogoVar | |||||||
ELP4_chr11_31504767_31795324 | 31533368 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01928.hp2 HG02148.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0042 others(6): Show |
9 | 270 | 0.0333 | 15 | c.260 others(32): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELP4_chr11_31504767_31795324 | 31593227 | C | CTGTTGTT others(8): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18942.hp2 NA18954.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0018others(1): Show | a0001c0001t0001g0041 a0001c0001t0005g0028 a0001c0001t0018g0031 others(1): Show |
4 | 270 | 0.0148 | 15 | c.382 others(32): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELP6_chr3_47490640_47518712 | 47514055 | T | TTTATTAT others(8): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG02630.hp2 NA18980.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0054 others(2): Show |
6 | 374 | 0.0160 | 15 | c.-46 others(24): Show |
ELP6 | ENSG00000163832.16 | transcript | ENST00000296149.9 | protein_coding | 344 | chr3 | TogoVar | |||||||
ELSPBP1_chr19_47989632_48030154 | 48003886 | C | CTTCTATT others(8): Show |
intron_variant | MODIFIER | HG02738.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 a0001c0001t0001g0364 |
2 | 388 | 0.0052 | 15 | c.-17 others(32): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ELSPBP1_chr19_47989632_48030154 | 48028493 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 388 | 0.0026 | 15 | c.*35 others(26): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 3340 | chr19 | TogoVar | |||||||
EMC10_chr19_50471507_50495871 | 50484018 | C | CTTTTTTT others(8): Show |
3_prime_UTR_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0112 | a0001c0001t0112g0001 | 1 | 352 | 0.0028 | 15 | c.*17 others(26): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 7/7 | 1787 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EMC3_chr3_9957682_9991841 | 9978145 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0211 | 1 | 322 | 0.0031 | 15 | c.156 others(30): Show |
EMC3 | ENSG00000125037.13 | transcript | ENST00000245046.7 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
EMC7_chr15_34079017_34106862 | 34092293 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 410 | 0.0024 | 15 | c.357 others(32): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
EMD_chrX_154374295_154386523 | 154375871 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001 a0001c0001t0006g0004 |
2 | 284 | 0.0070 | 15 | c.-36 others(26): Show |
EMD | ENSG00000102119.12 | transcript | ENST00000369842.9 | protein_coding | 3423 | chrX | TogoVar | |||||||
EMILIN2_chr18_2842006_2921003 | 2889128 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG02976.hp1 NA19240.hp2 |
a0003a0026 | a0003c0046a0026c0045 | a0003c0046t0051a0026c0045t0002 | a0003c0046t0051g0005 a0026c0045t0002g0272 |
2 | 452 | 0.0044 | 15 | c.434 others(32): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99790865 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02109.hp2 others(3): Show |
a0001a0003 | a0001c0003a0001c0004a0003c0002 | a0001c0003t0001a0001c0004t0001a0001c0004t0013others(1): Show | a0001c0003t0001g0163 a0001c0003t0001g0232 a0001c0003t0001g0233 others(3): Show |
6 | 288 | 0.0208 | 15 | c.-26 others(26): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 2547 | chr14 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99927853 | T | TGGGGGTG others(8): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0050 | 1 | 288 | 0.0035 | 15 | c.190 others(34): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99927975 | G | GTGGTGGT others(8): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0242 | 1 | 288 | 0.0035 | 15 | c.190 others(34): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928116 | G | GTGGTGAT others(8): Show |
intron_variant | MODIFIER | HG03579.hp2 NA18906.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0008 a0001c0003t0001g0010 |
2 | 288 | 0.0069 | 15 | c.190 others(34): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99935781 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0017 | 1 | 288 | 0.0035 | 15 | c.191 others(32): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML4_chr2_42164353_42337548 | 42245094 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01975.hp2 HG01978.hp1 HG02109.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002a0003c0003t0004 | a0001c0001t0002g0189 a0003c0003t0002g0260 a0003c0003t0002g0294 others(1): Show |
4 | 358 | 0.0112 | 15 | c.26- others(28): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |