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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EVPLL_chr17_18372778_18394647 | 18373800 | C | CAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 NA19080.hp2 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0005 | a0001c0003t0002g0003 a0001c0003t0005g0014 |
2 | 408 | 0.0049 | 24 | c.-42 others(35): Show |
EVPLL | ENSG00000214860.5 | transcript | ENST00000399134.5 | protein_coding | 3977 | chr17 | TogoVar | |||||||
EVX1_chr7_27237802_27252830 | 27252583 | G | GGTGTGTG others(17): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0005g0002 |
2 | 398 | 0.0050 | 24 | c.*61 others(35): Show |
EVX1 | ENSG00000106038.13 | transcript | ENST00000496902.7 | protein_coding | 4754 | chr7 | TogoVar | |||||||
EVX2_chr2_176072472_176088962 | 176084421 | G | GTTTTGTT others(17): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 430 | 0.0023 | 24 | c.-64 others(33): Show |
EVX2 | ENSG00000174279.5 | transcript | ENST00000308618.5 | protein_coding | 460 | chr2 | TogoVar | |||||||
EVX2_chr2_176072472_176088962 | 176084421 | G | GTTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 HG03688.hp2 HG03942.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0009a0001c0003t0005 | a0001c0002t0009g0015 a0001c0003t0005g0026 |
3 | 430 | 0.0070 | 24 | c.-64 others(33): Show |
EVX2 | ENSG00000174279.5 | transcript | ENST00000308618.5 | protein_coding | 460 | chr2 | TogoVar | |||||||
EVX2_chr2_176072472_176088962 | 176084733 | A | AAGAGAGA others(17): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02717.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0005 | a0001c0002t0001g0002 a0001c0003t0005g0008 |
2 | 430 | 0.0047 | 24 | c.-95 others(33): Show |
EVX2 | ENSG00000174279.5 | transcript | ENST00000308618.5 | protein_coding | 772 | chr2 | TogoVar | |||||||
EXD1_chr15_41177728_41235757 | 41179536 | A | AAAGAAAG others(17): Show |
downstream_gene_variant | MODIFIER | NA19055.hp1 | a0012 | a0012c0015 | a0012c0015t0009 | a0012c0015t0009g0188 | 1 | 318 | 0.0031 | 24 | c.*43 others(35): Show |
EXD1 | ENSG00000178997.12 | transcript | ENST00000458580.7 | protein_coding | 3191 | chr15 | TogoVar | |||||||
EXD1_chr15_41177728_41235757 | 41179536 | A | AAAGGAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0203 a0001c0002t0001g0204 |
2 | 318 | 0.0063 | 24 | c.*43 others(35): Show |
EXD1 | ENSG00000178997.12 | transcript | ENST00000458580.7 | protein_coding | 3191 | chr15 | TogoVar | |||||||
EXD1_chr15_41177728_41235757 | 41179536 | A | AAAGGAAG others(17): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00544.hp2 others(85): Show |
a0001a0005a0006 | a0001c0002a0001c0006a0001c0008others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0010others(6): Show | a0001c0002t0001g0041 a0001c0002t0001g0112 a0001c0002t0001g0113 others(85): Show |
88 | 318 | 0.2767 | 24 | c.*43 others(35): Show |
EXD1 | ENSG00000178997.12 | transcript | ENST00000458580.7 | protein_coding | 3191 | chr15 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137346238 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00280.hp2 HG03669.hp2 |
a0003a0011 | a0003c0003a0011c0010 | a0003c0003t0001a0011c0010t0001 | a0003c0003t0001g0068 a0011c0010t0001g0020 |
2 | 82 | 0.0244 | 24 | c.199 others(43): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137408546 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0039 | 1 | 82 | 0.0122 | 24 | c.-47 others(43): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 1/21 | chr9 | TogoVar | |||||||
EXO1_chr1_241843204_241894939 | 241869752 | T | TTCCTTCC others(17): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0013 | a0013c0014 | a0013c0014t0013 | a0013c0014t0013g0046 | 1 | 416 | 0.0024 | 24 | c.126 others(43): Show |
EXO1 | ENSG00000174371.17 | transcript | ENST00000366548.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 501121 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA18948.hp2 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 a0001c0001t0001g0102 |
2 | 272 | 0.0074 | 24 | c.238 others(43): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 501159 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0127 | 1 | 272 | 0.0037 | 24 | c.238 others(43): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 501443 | A | ATATATTA others(17): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG01081.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0063 a0001c0001t0002g0174 a0001c0001t0002g0188 others(4): Show |
7 | 272 | 0.0257 | 24 | c.238 others(43): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 501498 | A | ATATATTA others(17): Show |
intron_variant | MODIFIER | HG02965.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0199 a0001c0001t0006g0033 |
2 | 272 | 0.0074 | 24 | c.238 others(43): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 501533 | T | TATATATT others(17): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0083 | 1 | 272 | 0.0037 | 24 | c.238 others(43): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 501534 | A | ATATATTA others(17): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 a0001c0001t0002g0166 |
2 | 272 | 0.0074 | 24 | c.238 others(43): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC3L2_chr19_45207370_45250407 | 45245739 | C | CGGGGGGG others(17): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0326 | 1 | 356 | 0.0028 | 24 | c.-41 others(33): Show |
EXOC3L2 | ENSG00000283632.4 | transcript | ENST00000413988.3 | protein_coding | 333 | chr19 | TogoVar | |||||||
EXOC4_chr7_133248078_134070761 | 133823843 | T | TATTATAT others(17): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0013 | 1 | 102 | 0.0098 | 24 | c.173 others(43): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | chr7 | TogoVar | |||||||
EXOC4_chr7_133248078_134070761 | 133941821 | T | TTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG03516.hp1 HG04184.hp2 NA19009.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0002t0002g0079 a0001c0003t0001g0006 a0001c0003t0002g0036 others(1): Show |
4 | 102 | 0.0392 | 24 | c.220 others(43): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72307161 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03041.hp1 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0002a0002c0004t0008 | a0001c0002t0002g0065 a0002c0004t0008g0002 |
2 | 104 | 0.0192 | 24 | c.219 others(45): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 20/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72397625 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0004 | a0002c0004t0008 | a0002c0004t0008g0004 | 1 | 104 | 0.0096 | 24 | c.198 others(45): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 18/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72697105 | C | CAGATATA others(17): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0065 | 1 | 104 | 0.0096 | 24 | c.669 others(43): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 6/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72700237 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 104 | 0.0096 | 24 | c.669 others(43): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 6/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72773120 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02280.hp1 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0017 | a0001c0002t0005g0075 a0001c0002t0017g0077 |
2 | 104 | 0.0192 | 24 | c.114 others(43): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 1/21 | chr2 | TogoVar | |||||||
EXOC8_chr1_231327753_231342852 | 231341880 | G | GGAGCTCC others(17): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 388 | 0.0026 | 24 | c.-41 others(35): Show |
EXOC8 | ENSG00000116903.7 | transcript | ENST00000366645.1 | protein_coding | 4029 | chr1 | TogoVar | |||||||
EXOSC10_chr1_11061618_11104869 | 11064537 | C | CAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 284 | 0.0035 | 24 | c.*21 others(35): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 2080 | chr1 | TogoVar | |||||||
EXOSC10_chr1_11061618_11104869 | 11083562 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0210 | 1 | 284 | 0.0035 | 24 | c.109 others(41): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 9/24 | chr1 | TogoVar | |||||||
EXOSC1_chr10_97430909_97451006 | 97449861 | C | CTTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 430 | 0.0023 | 24 | c.-38 others(35): Show |
EXOSC1 | ENSG00000171311.13 | transcript | ENST00000370902.8 | protein_coding | 3856 | chr10 | TogoVar | |||||||
EXPH5_chr11_108500435_108598768 | 108597151 | G | GATCACAT others(17): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0041 | 1 | 314 | 0.0032 | 24 | c.-36 others(35): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3384 | chr11 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117809209 | G | GTATAAAT others(17): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02523.hp1 |
a0001 | a0001c0002 | a0001c0002t0042a0001c0002t0066 | a0001c0002t0042g0124 a0001c0002t0066g0179 |
2 | 190 | 0.0105 | 24 | c.172 others(43): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 8/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117809218 | A | AACATATA others(17): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0013a0001c0004t0015a0001c0004t0060 | a0001c0004t0013g0004 a0001c0004t0013g0005 a0001c0004t0015g0158 others(1): Show |
4 | 190 | 0.0211 | 24 | c.172 others(43): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 8/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117844137 | C | CTATTATT others(17): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0078 | 1 | 190 | 0.0053 | 24 | c.963 others(41): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117858766 | A | AAGGCAGG others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0135 | 1 | 190 | 0.0053 | 24 | c.963 others(43): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117858810 | C | CAGGAAGG others(17): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 190 | 0.0053 | 24 | c.963 others(43): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117858844 | G | GGAAGGAA others(17): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0127 | 1 | 190 | 0.0053 | 24 | c.963 others(43): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117867260 | G | GAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0010 | 1 | 190 | 0.0053 | 24 | c.963 others(43): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117870823 | T | TCTCACAC others(17): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0086 | 1 | 190 | 0.0053 | 24 | c.963 others(43): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117874575 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01952.hp2 HG02165.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0051a0001c0002t0002others(2): Show | a0001c0001t0005g0071 a0001c0001t0051g0134 a0001c0002t0002g0098 others(2): Show |
5 | 190 | 0.0263 | 24 | c.963 others(43): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117973930 | C | CAAGGAAG others(17): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02109.hp1 HG02615.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(3): Show | a0001c0001t0001g0066 a0001c0001t0006g0091 a0001c0001t0006g0094 others(4): Show |
7 | 190 | 0.0368 | 24 | c.962 others(45): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117985004 | A | AAGGTCTT others(17): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0007 | a0001c0007t0013 | a0001c0007t0013g0014 | 1 | 190 | 0.0053 | 24 | c.962 others(45): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118019246 | T | TGAAAGAA others(17): Show |
intron_variant | MODIFIER | HG04199.hp2 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0020 a0001c0001t0007g0142 |
2 | 190 | 0.0105 | 24 | c.962 others(43): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118073632 | A | AAGAAGAG others(17): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0129 | 1 | 190 | 0.0053 | 24 | c.962 others(43): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118113695 | C | CTATATAT others(17): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG03017.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0010a0001c0004t0001 | a0001c0002t0010g0149 a0001c0004t0001g0101 |
2 | 190 | 0.0105 | 24 | c.-26 others(35): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1870 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118113695 | C | CTCTATAT others(17): Show |
upstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0148 | 1 | 190 | 0.0053 | 24 | c.-26 others(35): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1870 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118113695 | C | CTCTCTCT others(17): Show |
upstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0122 | 1 | 190 | 0.0053 | 24 | c.-26 others(35): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1870 | chr8 | TogoVar | |||||||
EXT2_chr11_44090678_44256962 | 44119124 | T | TTTTATAT others(17): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0005 | a0002c0005t0019 | a0002c0005t0019g0238 | 1 | 334 | 0.0030 | 24 | c.743 others(41): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EXT2_chr11_44090678_44256962 | 44119139 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA18999.hp2 NA19004.hp2 NA19007.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0032others(1): Show | a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0008g0217 others(2): Show |
5 | 334 | 0.0150 | 24 | c.743 others(41): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EXT2_chr11_44090678_44256962 | 44119169 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0042 | 1 | 334 | 0.0030 | 24 | c.743 others(41): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EXT2_chr11_44090678_44256962 | 44119169 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01993.hp2 NA18973.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0001t0009g0003 a0001c0001t0009g0283 a0001c0002t0002g0019 others(4): Show |
8 | 334 | 0.0240 | 24 | c.743 others(41): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |