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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXOC2_chr6_480154_698139 | 501202 | T | TCTATATA others(11): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0149 | 1 | 272 | 0.0037 | 18 | c.238 others(37): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 501297 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0001 | 1 | 272 | 0.0037 | 18 | c.238 others(37): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 501566 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 a0001c0001t0002g0166 |
2 | 272 | 0.0074 | 18 | c.238 others(37): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 658645 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0004 | a0004c0009 | a0004c0009t0009 | a0004c0009t0009g0148 | 1 | 272 | 0.0037 | 18 | c.-43 others(37): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 687171 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0226 | 1 | 272 | 0.0037 | 18 | c.-44 others(35): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | |||||||
EXOC3L2_chr19_45207370_45250407 | 45226747 | C | CTTCTTTT others(11): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0094 | 1 | 356 | 0.0028 | 18 | c.158 others(35): Show |
EXOC3L2 | ENSG00000283632.4 | transcript | ENST00000413988.3 | protein_coding | 7/11 | chr19 | TogoVar | |||||||
EXOC3L2_chr19_45207370_45250407 | 45226747 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03669.hp1 NA18747.hp2 others(2): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0002t0001g0217 a0001c0002t0002g0008 a0001c0002t0004g0119 others(2): Show |
5 | 356 | 0.0140 | 18 | c.158 others(35): Show |
EXOC3L2 | ENSG00000283632.4 | transcript | ENST00000413988.3 | protein_coding | 7/11 | chr19 | TogoVar | |||||||
EXOC3L2_chr19_45207370_45250407 | 45245738 | A | ACGGGGGG others(11): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0323 | 1 | 356 | 0.0028 | 18 | c.-41 others(27): Show |
EXOC3L2 | ENSG00000283632.4 | transcript | ENST00000413988.3 | protein_coding | 332 | chr19 | TogoVar | |||||||
EXOC3L2_chr19_45207370_45250407 | 45245739 | C | CGGGGGGG others(11): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG02698.hp1 |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0003 | a0003c0004t0001g0325 a0003c0004t0003g0329 a0003c0004t0003g0330 |
3 | 356 | 0.0084 | 18 | c.-41 others(27): Show |
EXOC3L2 | ENSG00000283632.4 | transcript | ENST00000413988.3 | protein_coding | 333 | chr19 | TogoVar | |||||||
EXOC3_chr5_438176_472290 | 441497 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG02056.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0134 a0001c0001t0001g0147 |
3 | 418 | 0.0072 | 18 | c.-18 others(29): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 1678 | chr5 | TogoVar | |||||||
EXOC3_chr5_438176_472290 | 455043 | G | GTGGCTCT others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(226): Show |
a0001a0003a0005 | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(124): Show |
229 | 418 | 0.5479 | 18 | c.104 others(35): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133516758 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01099.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0038 a0001c0001t0001g0068 a0001c0001t0002g0100 others(17): Show |
20 | 102 | 0.1961 | 18 | c.141 others(39): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133773464 | T | TTTATTAT others(11): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0071 | 1 | 102 | 0.0098 | 18 | c.151 others(39): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133855118 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0082 | 1 | 102 | 0.0098 | 18 | c.173 others(39): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133855130 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | NA18906.hp2 NA18945.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0038 a0001c0001t0005g0040 |
2 | 102 | 0.0196 | 18 | c.173 others(39): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133857325 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0017 | a0001c0001t0009g0001 a0001c0001t0017g0094 |
2 | 102 | 0.0196 | 18 | c.173 others(39): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133884581 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0071 | 1 | 102 | 0.0098 | 18 | c.173 others(39): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133941821 | T | TTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02559.hp2 |
a0001 | a0001c0003a0001c0008 | a0001c0003t0002a0001c0008t0015 | a0001c0003t0002g0021 a0001c0008t0015g0078 |
2 | 102 | 0.0196 | 18 | c.220 others(37): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133971361 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 NA19056.hp2 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0002a0001c0005t0011 | a0001c0004t0002g0029 a0001c0005t0011g0043 |
2 | 102 | 0.0196 | 18 | c.220 others(39): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72194569 | T | TTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02717.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0003 | a0001c0001t0003g0046 a0001c0003t0003g0096 |
2 | 104 | 0.0192 | 18 | c.219 others(39): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 20/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72209243 | A | AAAGAAAA others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03041.hp1 |
a0002 | a0002c0004 | a0002c0004t0008 | a0002c0004t0008g0002 a0002c0004t0008g0004 |
2 | 104 | 0.0192 | 18 | c.219 others(39): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 20/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72224992 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0006 | a0001c0006t0020 | a0001c0006t0020g0069 | 1 | 104 | 0.0096 | 18 | c.219 others(39): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 20/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72235642 | A | AATAGGTG others(11): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0006 | a0001c0006t0020 | a0001c0006t0020g0069 | 1 | 104 | 0.0096 | 18 | c.219 others(39): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 20/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72305322 | G | GTGTATAT others(11): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01169.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0006others(1): Show | a0001c0002t0006a0001c0003t0001a0001c0003t0022others(2): Show | a0001c0002t0006g0010 a0001c0003t0001g0088 a0001c0003t0022g0083 others(2): Show |
5 | 104 | 0.0481 | 18 | c.219 others(39): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 20/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72307161 | G | GTTTTTGT others(11): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0074 | 1 | 104 | 0.0096 | 18 | c.219 others(39): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 20/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72338910 | C | CACACATA others(11): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02109.hp1 HG02109.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0002g0034 a0001c0001t0003g0049 a0001c0002t0002g0064 others(4): Show |
7 | 104 | 0.0673 | 18 | c.212 others(37): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 19/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72338966 | C | CACATACA others(11): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0021 | 1 | 104 | 0.0096 | 18 | c.212 others(37): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 19/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72671783 | G | GAAAGAAA others(11): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 104 | 0.0096 | 18 | c.669 others(37): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 6/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72697105 | C | CAGATATA others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01123.hp1 HG01884.hp2 others(9): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0005others(7): Show | a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0003g0071 others(9): Show |
12 | 104 | 0.1154 | 18 | c.669 others(37): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 6/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72700237 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG01515.hp1 HG02258.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0054 a0001c0001t0002g0032 a0001c0001t0002g0037 others(4): Show |
7 | 104 | 0.0673 | 18 | c.669 others(37): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 6/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72767808 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG01981.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003a0001c0003t0022 | a0001c0003t0001g0001 a0001c0003t0001g0091 a0001c0003t0003g0097 others(1): Show |
4 | 104 | 0.0385 | 18 | c.114 others(37): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 1/21 | chr2 | TogoVar | |||||||
EXOC6_chr10_92843520_93064490 | 92858022 | T | TCCCCCCC others(11): Show |
intron_variant | MODIFIER | NA18971.hp1 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | 288 | 0.0069 | 18 | c.101 others(35): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92948573 | C | CACTACTA others(11): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223 | 1 | 288 | 0.0035 | 18 | c.141 others(35): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92988800 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0165 a0001c0001t0004g0158 |
2 | 288 | 0.0069 | 18 | c.195 others(37): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 93050759 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01978.hp1 HG02015.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0023 others(13): Show |
16 | 288 | 0.0556 | 18 | c.217 others(37): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC7_chr17_76076016_76108787 | 76077966 | C | CGGGGGGG others(11): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0052 | 1 | 366 | 0.0027 | 18 | c.*56 others(29): Show |
EXOC7 | ENSG00000182473.22 | transcript | ENST00000589210.6 | protein_coding | 3049 | chr17 | TogoVar | |||||||
EXOSC10_chr1_11061618_11104869 | 11078264 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG02004.hp1 others(22): Show |
a0001a0008 | a0001c0003a0001c0023a0008c0024 | a0001c0003t0001a0001c0003t0002a0001c0023t0002others(1): Show | a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0227 others(21): Show |
25 | 284 | 0.0880 | 18 | c.175 others(35): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 14/24 | chr1 | TogoVar | |||||||
EXOSC10_chr1_11061618_11104869 | 11083562 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02602.hp2 HG02717.hp2 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0017t0001 | a0001c0001t0001g0209 a0001c0017t0001g0190 |
2 | 284 | 0.0070 | 18 | c.109 others(35): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 9/24 | chr1 | TogoVar | |||||||
EXOSC1_chr10_97430909_97451006 | 97449861 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 430 | 0.0023 | 18 | c.-38 others(29): Show |
EXOSC1 | ENSG00000171311.13 | transcript | ENST00000370902.8 | protein_coding | 3856 | chr10 | TogoVar | |||||||
EXOSC2_chr9_130688780_130709892 | 130691020 | C | CTTTCTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 a0001c0001t0003g0044 |
2 | 426 | 0.0047 | 18 | c.-27 others(29): Show |
EXOSC2 | ENSG00000130713.17 | transcript | ENST00000372358.10 | protein_coding | 2759 | chr9 | TogoVar | |||||||
EXPH5_chr11_108500435_108598768 | 108532339 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG01175.hp2 HG03098.hp2 HG04199.hp2 |
a0001a0022a0025 | a0001c0001a0022c0020a0025c0032 | a0001c0001t0002a0022c0020t0001a0025c0032t0001 | a0001c0001t0002g0144 a0022c0020t0001g0200 a0025c0032t0001g0024 |
3 | 314 | 0.0096 | 18 | c.444 others(35): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | |||||||
EXPH5_chr11_108500435_108598768 | 108532366 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0034 | 1 | 314 | 0.0032 | 18 | c.444 others(35): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | |||||||
EXPH5_chr11_108500435_108598768 | 108532366 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0017 | a0017c0014 | a0017c0014t0004 | a0017c0014t0004g0095 | 1 | 314 | 0.0032 | 18 | c.444 others(35): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117809209 | G | GTATAAAT others(11): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0080 | 1 | 190 | 0.0053 | 18 | c.172 others(37): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 8/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117809218 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0149 | 1 | 190 | 0.0053 | 18 | c.172 others(37): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 8/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117827784 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0007 | a0001c0007t0013 | a0001c0007t0013g0014 | 1 | 190 | 0.0053 | 18 | c.128 others(37): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 4/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117844137 | C | CTATTATT others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01261.hp1 HG02074.hp2 others(13): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0006a0001c0001t0012a0001c0001t0021others(11): Show | a0001c0001t0006g0131 a0001c0001t0006g0156 a0001c0001t0012g0175 others(13): Show |
16 | 190 | 0.0842 | 18 | c.963 others(35): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117851616 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0052 | 1 | 190 | 0.0053 | 18 | c.963 others(37): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117867260 | G | GAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0152 | 1 | 190 | 0.0053 | 18 | c.963 others(37): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117870823 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0034a0001c0010t0056 | a0001c0001t0034g0016 a0001c0010t0056g0081 |
2 | 190 | 0.0105 | 18 | c.963 others(37): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar |