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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACOXL_chr2_110727573_111123548 | 110768513 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0014 | a0014c0020 | a0014c0020t0001 | a0014c0020t0001g0002 | 1 | 150 | 0.0067 | 14 | c.75+ others(25): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 110811730 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01255.hp1 HG01255.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0044a0001c0001t0001g0085a0001c0001t0001g0117others(8): Show | 11 | 150 | 0.0733 | 14 | c.753 others(31): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 110818419 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 150 | 0.0067 | 14 | c.753 others(33): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 110846641 | G | GCACACAC others(7): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01257.hp2 HG02027.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0002others(5): Show | a0001c0001t0001g0038a0001c0001t0001g0077a0001c0001t0006g0017others(6): Show | 9 | 150 | 0.0600 | 14 | c.788 others(31): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 110846641 | G | GCGCACAC others(7): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 150 | 0.0067 | 14 | c.788 others(31): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 110915334 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG02615.hp1 NA18906.hp2 |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0002a0005c0007t0001 | a0002c0002t0002g0119a0005c0007t0001g0062 | 2 | 150 | 0.0133 | 14 | c.905 others(31): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 110943063 | A | AGGAAGAA others(7): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02451.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0005a0004c0005t0002 | a0001c0001t0001g0012a0001c0001t0001g0018a0001c0001t0001g0021others(5): Show | 8 | 150 | 0.0533 | 14 | c.105 others(33): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 110950810 | G | GGAGAGAG others(7): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01257.hp2 HG01258.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0002c0002t0002a0003c0004t0004others(1): Show | a0001c0001t0001g0067a0001c0001t0001g0080a0001c0001t0001g0113others(6): Show | 9 | 150 | 0.0600 | 14 | c.105 others(35): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 110988857 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02897.hp2 HG03471.hp2 |
a0002a0006 | a0002c0002a0006c0006 | a0002c0002t0001a0006c0006t0001 | a0002c0002t0001g0135a0006c0006t0001g0001 | 2 | 150 | 0.0133 | 14 | c.116 others(33): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 111003550 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03831.hp1 HG03831.hp2 NA18956.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0080a0001c0001t0001g0113 | 3 | 150 | 0.0200 | 14 | c.128 others(33): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACP2_chr11_47234302_47253814 | 47245857 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02572.hp1 HG02723.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(2): Show | 7 | 358 | 0.0196 | 14 | c.298 others(27): Show |
ACP2 | ENSG00000134575.13 | transcript | ENST00000672073.1 | protein_coding | 3/10 | chr11 | TogoVar | ||||||
ACP3_chr3_132312407_132363841 | 132325595 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01346.hp1 HG01516.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(6): Show | a0001c0001t0001g0286a0001c0001t0008g0162a0001c0001t0010g0287others(7): Show | 11 | 368 | 0.0299 | 14 | c.121 others(31): Show |
ACP3 | ENSG00000014257.17 | transcript | ENST00000336375.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACP3_chr3_132312407_132363841 | 132347844 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03195.hp1 HG03579.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0002t0004a0001c0002t0011others(1): Show | a0001c0002t0003g0054a0001c0002t0003g0121a0001c0002t0004g0038others(3): Show | 6 | 368 | 0.0163 | 14 | c.782 others(31): Show |
ACP3 | ENSG00000014257.17 | transcript | ENST00000336375.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACP6_chr1_147637230_147675524 | 147673342 | C | CAAAAAAA others(7): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG02647.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0011a0001c0001t0001g0169a0001c0001t0016g0181 | 4 | 404 | 0.0099 | 14 | c.-32 others(25): Show |
ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 2819 | chr1 | TogoVar | ||||||
ACP7_chr19_39079368_39116493 | 39102765 | T | TTCTTTCT others(7): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0008 | a0001c0008t0009 | a0001c0008t0009g0141 | 1 | 402 | 0.0025 | 14 | c.111 others(33): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACP7_chr19_39079368_39116493 | 39102767 | C | CTTTCTTT others(7): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01123.hp1 HG01192.hp2 others(9): Show |
a0001 | a0001c0004a0001c0006a0001c0008 | a0001c0004t0002a0001c0004t0004a0001c0004t0012others(3): Show | a0001c0004t0002g0203a0001c0004t0004g0033a0001c0004t0004g0046others(9): Show | 12 | 402 | 0.0299 | 14 | c.111 others(33): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACRV1_chr11_125666522_125685847 | 125678978 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 426 | 0.0024 | 14 | c.53- others(27): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
ACSBG1_chr15_78162468_78239565 | 78235958 | A | AACACACA others(7): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 HG03486.hp2 HG03654.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0010a0003c0004others(1): Show | a0001c0001t0001a0002c0010t0019a0003c0004t0003others(1): Show | a0001c0001t0001g0111a0001c0001t0001g0268a0002c0010t0019g0189others(2): Show | 5 | 350 | 0.0143 | 14 | c.-14 others(25): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1394 | chr15 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6136149 | A | AGGCTGGA others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(178): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0017a0001c0020others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0017t0001others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(177): Show | 181 | 262 | 0.6908 | 14 | c.-32 others(29): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACSBG2_chr19_6130667_6198091 | 6136149 | A | AGGCTGGA others(7): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02965.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041 | 3 | 262 | 0.0115 | 14 | c.-32 others(29): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACSBG2_chr19_6130667_6198091 | 6138099 | G | GGTAGTTT others(7): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 262 | 0.0038 | 14 | c.-32 others(31): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACSBG2_chr19_6130667_6198091 | 6166280 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02976.hp1 HG03041.hp2 others(7): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0002others(3): Show | a0001c0001t0001g0039a0002c0002t0001g0019a0002c0002t0001g0030others(7): Show | 10 | 262 | 0.0382 | 14 | c.738 others(29): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACSBG2_chr19_6130667_6198091 | 6180103 | C | CCTCTCTG others(7): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01433.hp1 others(39): Show |
a0003a0004a0007others(4): Show | a0003c0004a0003c0005a0003c0011others(8): Show | a0003c0004t0002a0003c0005t0001a0003c0011t0001others(9): Show | a0003c0004t0002g0006a0003c0004t0002g0007a0003c0004t0002g0008others(38): Show | 42 | 262 | 0.1603 | 14 | c.907 others(31): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACSBG2_chr19_6130667_6198091 | 6190812 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0131 | 1 | 262 | 0.0038 | 14 | c.*35 others(29): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACSBG2_chr19_6130667_6198091 | 6192071 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0009 | a0009c0010 | a0009c0010t0002 | a0009c0010t0002g0052 | 1 | 262 | 0.0038 | 14 | c.*36 others(29): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACSF2_chr17_50421218_50479837 | 50461927 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0187 | 1 | 320 | 0.0031 | 14 | c.508 others(29): Show |
ACSF2 | ENSG00000167107.13 | transcript | ENST00000300441.9 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ACSF3_chr16_89088852_89161233 | 89147524 | C | CGGGGGGG others(7): Show |
intron_variant | MODIFIER | HG03942.hp1 NA19085.hp2 NA20129.hp1 |
a0002a0006 | a0002c0002a0006c0012 | a0002c0002t0004a0006c0012t0006 | a0002c0002t0004g0123a0002c0002t0004g0226a0006c0012t0006g0205 | 3 | 368 | 0.0082 | 14 | c.161 others(33): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSL1_chr4_184750595_184830968 | 184769070 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 392 | 0.0026 | 14 | c.994 others(29): Show |
ACSL1 | ENSG00000151726.16 | transcript | ENST00000281455.7 | protein_coding | 11/20 | chr4 | TogoVar | ||||||
ACSL3_chr2_222856036_222949639 | 222901964 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02738.hp2 HG04115.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157a0001c0001t0002g0185a0001c0001t0002g0196others(1): Show | 4 | 252 | 0.0159 | 14 | c.-41 others(31): Show |
ACSL3 | ENSG00000123983.15 | transcript | ENST00000357430.8 | protein_coding | 3/16 | chr2 | TogoVar | ||||||
ACSL3_chr2_222856036_222949639 | 222947284 | C | CTTTTTTT others(7): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0015a0001c0001t0003g0139 | 2 | 252 | 0.0079 | 14 | c.*56 others(25): Show |
ACSL3 | ENSG00000123983.15 | transcript | ENST00000357430.8 | protein_coding | 2646 | chr2 | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112423219 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 364 | 0.0028 | 14 | c.159 others(31): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSM1_chr16_20618235_20702680 | 20627869 | C | CATACATA others(7): Show |
intron_variant | MODIFIER | HG03831.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063a0001c0001t0002g0203 | 2 | 318 | 0.0063 | 14 | c.130 others(31): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20669441 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 318 | 0.0031 | 14 | c.912 others(29): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 6/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20671440 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0101 | 1 | 318 | 0.0031 | 14 | c.752 others(27): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 5/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20672471 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0126 | 1 | 318 | 0.0031 | 14 | c.612 others(29): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20672471 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02027.hp1 NA18940.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0114a0001c0003t0001g0121a0001c0003t0001g0284 | 3 | 318 | 0.0094 | 14 | c.612 others(29): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20672471 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 HG02074.hp1 others(11): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0017a0001c0003t0001g0103a0001c0003t0001g0105others(11): Show | 14 | 318 | 0.0440 | 14 | c.612 others(29): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20672471 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00733.hp1 others(8): Show |
a0001a0003 | a0001c0003a0003c0006 | a0001c0003t0001a0003c0006t0001 | a0001c0003t0001g0034a0001c0003t0001g0118a0001c0003t0001g0128others(8): Show | 11 | 318 | 0.0346 | 14 | c.612 others(29): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20672471 | A | AAAAAATA others(7): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01496.hp2 NA19080.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0106a0001c0003t0001g0180a0001c0003t0001g0304 | 3 | 318 | 0.0094 | 14 | c.612 others(29): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20672471 | A | AAAATATA others(7): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0032 | 1 | 318 | 0.0031 | 14 | c.612 others(29): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20488494 | C | CAGAGAGA others(7): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 | a0003 | a0003c0026 | a0003c0026t0007 | a0003c0026t0007g0170 | 1 | 436 | 0.0023 | 14 | c.*18 others(25): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 826 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20535485 | C | CTGTGTGT others(7): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02897.hp2 HG02922.hp2 others(4): Show |
a0001a0002a0006 | a0001c0002a0002c0003a0006c0010 | a0001c0002t0004a0002c0003t0013a0006c0010t0003others(1): Show | a0001c0002t0004g0030a0001c0002t0004g0270a0001c0002t0004g0298others(4): Show | 7 | 388 | 0.0180 | 14 | c.*17 others(25): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 740 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20566247 | T | TTTTATAT others(7): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03491.hp2 |
a0002 | a0002c0003 | a0002c0003t0010a0002c0003t0013 | a0002c0003t0010g0053a0002c0003t0013g0049 | 2 | 388 | 0.0052 | 14 | c.-8- others(29): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20436100 | C | CTTTCTTT others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(187): Show |
a0001a0004a0007others(11): Show | a0001c0001a0001c0021a0001c0036others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(160): Show | 190 | 434 | 0.4378 | 14 | c.130 others(31): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSS2_chr20_34871612_34932959 | 34899423 | T | TTTCTCTT others(7): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02015.hp1 HG02622.hp2 others(16): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0007a0001c0001t0001g0165a0001c0001t0001g0167others(15): Show | 19 | 312 | 0.0609 | 14 | c.375 others(33): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81107511 | C | CACACATA others(7): Show |
intron_variant | MODIFIER | HG04115.hp2 NA18968.hp1 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0030 | a0001c0001t0003g0218a0001c0001t0003g0220a0001c0001t0030g0228 | 3 | 290 | 0.0103 | 14 | c.312 others(31): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81251668 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01074.hp2 HG01081.hp1 others(39): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(2): Show | a0001c0001t0003g0094a0001c0001t0003g0181a0001c0001t0003g0206others(39): Show | 42 | 290 | 0.1448 | 14 | c.172 others(33): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACTA1_chr1_229426245_229439094 | 229435461 | C | CCTCTCTC others(7): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 450 | 0.0022 | 14 | c.-14 others(25): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 1368 | chr1 | TogoVar | ||||||
ACTA2_chr10_88930074_88957773 | 88934612 | T | TACACACA others(7): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 402 | 0.0025 | 14 | c.*59 others(23): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 461 | chr10 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73902039 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 416 | 0.0024 | 14 | c.127 others(29): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |