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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ELMO2_chr20_46361050_46411615 | 46411193 | G | GGGCGGGT others(6): Show |
upstream_gene_variant | MODIFIER | NA19084.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0102 |
2 | 312 | 0.0064 | 13 | c.-47 others(24): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | |||||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GGGGGCGG others(6): Show |
upstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 312 | 0.0032 | 13 | c.-47 others(24): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | |||||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GGGGGGGC others(6): Show |
upstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 312 | 0.0032 | 13 | c.-47 others(24): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | |||||||
ELMOD1_chr11_107586147_107671779 | 107599755 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0006 | 1 | 342 | 0.0029 | 13 | c.-86 others(30): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELMOD1_chr11_107586147_107671779 | 107599755 | A | AAAAAGAA others(6): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01123.hp1 HG01243.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(8): Show | a0001c0001t0002g0212 a0001c0001t0002g0253 a0001c0001t0003g0331 others(22): Show |
25 | 342 | 0.0731 | 13 | c.-86 others(30): 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(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00544.hp1 others(68): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 others(68): Show |
71 | 342 | 0.2076 | 13 | c.699 others(28): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELOA_chr1_23738471_23767059 | 23758247 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 400 | 0.0025 | 13 | c.225 others(32): Show |
ELOA | ENSG00000011007.13 | transcript | ENST00000613537.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELOA_chr1_23738471_23767059 | 23758251 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02027.hp2 NA18979.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0182 |
5 | 400 | 0.0125 | 13 | c.225 others(32): Show |
ELOA | ENSG00000011007.13 | transcript | ENST00000613537.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELOA_chr1_23738471_23767059 | 23758255 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 400 | 0.0025 | 13 | c.225 others(32): Show |
ELOA | ENSG00000011007.13 | transcript | ENST00000613537.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELOC_chr8_73940119_73977191 | 73975355 | G | GTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 HG02040.hp1 NA18941.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0130 others(5): Show |
9 | 404 | 0.0223 | 13 | c.-33 others(24): Show |
ELOC | ENSG00000154582.18 | transcript | ENST00000520242.6 | protein_coding | 3165 | chr8 | TogoVar | |||||||
ELOC_chr8_73940119_73977191 | 73975361 | T | TTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 404 | 0.0025 | 13 | c.-33 others(24): Show |
ELOC | ENSG00000154582.18 | transcript | ENST00000520242.6 | protein_coding | 3171 | chr8 | TogoVar | |||||||
ELOF1_chr19_11548046_11564230 | 11549193 | A | AAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02818.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0008 | 4 | 412 | 0.0097 | 13 | c.*45 others(24): Show |
ELOF1 | ENSG00000130165.11 | transcript | ENST00000252445.8 | protein_coding | 3852 | chr19 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 10978304 | T | TATATATA others(6): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 HG02027.hp2 NA18952.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0007a0003c0008t0001 | a0001c0001t0001g0073 a0001c0001t0001g0123 a0001c0001t0007g0079 others(1): Show |
4 | 380 | 0.0105 | 13 | c.*54 others(24): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 2454 | chr6 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 10978306 | T | TATATATA others(6): Show |
downstream_gene_variant | MODIFIER | NA18965.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0318 a0001c0001t0006g0211 |
2 | 380 | 0.0053 | 13 | c.*54 others(24): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 2452 | chr6 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 10985466 | G | GTTTTCTT others(6): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(290): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(25): Show | a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0031 others(264): Show |
293 | 380 | 0.7711 | 13 | c.766 others(30): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 11029223 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0307 | 1 | 380 | 0.0026 | 13 | c.3+1 others(28): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL4_chr6_79909814_79952553 | 79947538 | C | CGCTGCAC others(6): Show |
5_prime_UTR_variant | MODIFIER | HG02723.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0053 a0001c0001t0009g0054 |
2 | 354 | 0.0057 | 13 | c.-27 others(22): Show |
ELOVL4 | ENSG00000118402.6 | transcript | ENST00000369816.5 | protein_coding | 1/6 | 260 | chr6 | TogoVar | ||||||
ELOVL5_chr6_53262404_53353950 | 53306217 | G | GGGGAGAG others(6): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 320 | 0.0031 | 13 | c.-8- others(30): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL5_chr6_53262404_53353950 | 53306257 | A | AGGGAGAG others(6): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0235 | 1 | 320 | 0.0031 | 13 | c.-8- others(30): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL5_chr6_53262404_53353950 | 53306335 | G | GAGAGGGA others(6): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 320 | 0.0031 | 13 | c.-8- others(30): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL5_chr6_53262404_53353950 | 53324691 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 320 | 0.0031 | 13 | c.-9+ others(30): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110042850 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00609.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0036 a0001c0001t0001g0095 a0001c0001t0001g0183 others(50): Show |
53 | 338 | 0.1568 | 13 | c.*84 others(24): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2995 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110044270 | T | TAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0149 a0001c0001t0015g0227 |
2 | 338 | 0.0059 | 13 | c.*70 others(24): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1575 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110061549 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG01168.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0115 a0001c0001t0001g0147 a0001c0001t0001g0199 others(33): Show |
36 | 338 | 0.1065 | 13 | c.222 others(30): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110083995 | A | ATGATATA others(6): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 338 | 0.0030 | 13 | c.221 others(32): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084588 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0024 | 1 | 338 | 0.0030 | 13 | c.221 others(32): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084588 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 338 | 0.0030 | 13 | c.221 others(32): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084589 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG03017.hp1 NA18982.hp2 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0272 a0001c0001t0002g0302 a0001c0001t0003g0205 |
3 | 338 | 0.0089 | 13 | c.221 others(32): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110094443 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA18966.hp2 NA18969.hp1 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0053 | a0001c0001t0001g0161 a0001c0001t0002g0314 a0001c0001t0053g0237 |
3 | 338 | 0.0089 | 13 | c.221 others(32): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110097305 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00609.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0089 a0001c0001t0003g0259 a0001c0001t0004g0145 others(26): Show |
29 | 338 | 0.0858 | 13 | c.221 others(30): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117901 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA18978.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0051 | a0001c0001t0024g0154 a0001c0001t0051g0143 |
2 | 338 | 0.0059 | 13 | c.90- others(30): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117903 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 338 | 0.0030 | 13 | c.90- others(30): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117903 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 338 | 0.0030 | 13 | c.90- others(30): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110158657 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0025 | 1 | 338 | 0.0030 | 13 | c.89+ others(30): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110158657 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0016 | 1 | 338 | 0.0030 | 13 | c.89+ others(30): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110158657 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 338 | 0.0030 | 13 | c.89+ others(30): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110158657 | A | ATATATTT others(6): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0148 | 1 | 338 | 0.0030 | 13 | c.89+ others(30): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110158657 | A | ATATTTTT others(6): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01358.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0146 a0001c0001t0002g0164 |
2 | 338 | 0.0059 | 13 | c.89+ others(30): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELP3_chr8_28088139_28196153 | 28090478 | G | GTGTGTGT others(6): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0177 | 1 | 398 | 0.0025 | 13 | c.-27 others(24): Show |
ELP3 | ENSG00000134014.18 | transcript | ENST00000256398.13 | protein_coding | 2660 | chr8 | TogoVar | |||||||
ELP4_chr11_31504767_31795324 | 31533368 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00738.hp1 HG01433.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0032 others(13): Show |
16 | 270 | 0.0593 | 13 | c.260 others(30): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELP6_chr3_47490640_47518712 | 47503483 | A | ATGGTCTC others(6): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0006 | a0006c0003 | a0006c0003t0002 | a0006c0003t0002g0085 | 1 | 374 | 0.0027 | 13 | c.323 others(28): Show |
ELP6 | ENSG00000163832.16 | transcript | ENST00000296149.9 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
EMC10_chr19_50471507_50495871 | 50477101 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0027a0001c0002t0090a0001c0002t0091others(4): Show | a0001c0002t0027g0011 a0001c0002t0090g0010 a0001c0002t0091g0010 others(4): Show |
9 | 352 | 0.0256 | 13 | c.114 others(28): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EMC10_chr19_50471507_50495871 | 50484018 | C | CTTTTTTT others(6): Show |
3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG01928.hp1 HG02257.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0014a0001c0001t0108others(2): Show | a0001c0001t0010g0001 a0001c0001t0010g0026 a0001c0001t0010g0055 others(4): Show |
12 | 352 | 0.0341 | 13 | c.*17 others(24): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 7/7 | 1787 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EMC1_chr1_19210660_19256524 | 19216233 | C | CAAAAAAA others(6): Show |
3_prime_UTR_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01978.hp2 others(15): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0005others(2): Show | a0001c0001t0008a0001c0001t0015a0003c0003t0013others(4): Show | a0001c0001t0008g0056 a0001c0001t0008g0110 a0001c0001t0008g0125 others(13): Show |
18 | 350 | 0.0514 | 13 | c.*30 others(24): Show |
EMC1 | ENSG00000127463.16 | transcript | ENST00000477853.6 | protein_coding | 23/23 | 3069 | chr1 | TogoVar | ||||||
EMC1_chr1_19210660_19256524 | 19245627 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02109.hp1 HG02559.hp2 others(5): Show |
a0005a0006 | a0005c0008a0005c0011a0006c0010 | a0005c0008t0007a0005c0008t0011a0005c0011t0001others(1): Show | a0005c0008t0007g0220 a0005c0008t0011g0014 a0005c0008t0011g0041 others(3): Show |
8 | 350 | 0.0229 | 13 | c.96- others(26): Show |
EMC1 | ENSG00000127463.16 | transcript | ENST00000477853.6 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
EMC2_chr8_108438624_108494196 | 108456359 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0048 | 1 | 364 | 0.0028 | 13 | c.363 others(28): Show |
EMC2 | ENSG00000104412.8 | transcript | ENST00000220853.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EMC3_chr3_9957682_9991841 | 9978145 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 322 | 0.0031 | 13 | c.156 others(28): Show |
EMC3 | ENSG00000125037.13 | transcript | ENST00000245046.7 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
EMC7_chr15_34079017_34106862 | 34092293 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 410 | 0.0024 | 13 | c.357 others(30): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
EMC7_chr15_34079017_34106862 | 34097039 | C | CTTCTTTT others(6): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 410 | 0.0024 | 13 | c.237 others(30): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 1/4 | chr15 | TogoVar | |||||||
EMC7_chr15_34079017_34106862 | 34097039 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01069.hp2 HG01099.hp1 others(32): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0030 others(24): Show |
35 | 410 | 0.0854 | 13 | c.237 others(30): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 1/4 | chr15 | TogoVar |