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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACOXL_chr2_110727573_111123548 | 110811730 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01081.hp1 HG01346.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0096 others(6): Show |
9 | 25 | 0.3600 | 16 | 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 | 110839971 | G | GGTTTGTT others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(91): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0010others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(28): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(91): Show |
94 | 148 | 0.6351 | 16 | c.754 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(9): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01175.hp2 HG01258.hp2 others(2): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0001a0002c0002t0002a0005c0007t0002others(1): Show | a0001c0001t0001g0137 a0001c0001t0001g0150 a0002c0002t0002g0147 others(2): Show |
5 | 27 | 0.1852 | 16 | c.788 others(33): 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(9): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0081 |
2 | 24 | 0.0833 | 16 | c.788 others(33): 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(9): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0060 | 1 | 145 | 0.0069 | 16 | c.905 others(33): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 110950810 | G | GGAGAGAG others(9): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03195.hp2 NA18993.hp1 others(1): Show |
a0001a0002a0004 | a0001c0003a0002c0002a0004c0005 | a0001c0003t0001a0002c0002t0001a0004c0005t0002 | a0001c0003t0001g0035 a0002c0002t0001g0113 a0002c0002t0001g0132 others(1): Show |
4 | 71 | 0.0563 | 16 | c.105 others(37): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 111022421 | T | TCACACAC others(9): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0008 | 1 | 59 | 0.0169 | 16 | c.128 others(35): 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(9): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 others(17): Show |
89 | 214 | 0.4159 | 16 | c.298 others(29): Show |
ACP2 | ENSG00000134575.13 | transcript | ENST00000672073.1 | protein_coding | 3/10 | chr11 | TogoVar | |||||||
ACP3_chr3_132312407_132363841 | 132325595 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(92): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(17): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 others(79): Show |
95 | 228 | 0.4167 | 16 | c.121 others(33): Show |
ACP3 | ENSG00000014257.17 | transcript | ENST00000336375.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACP3_chr3_132312407_132363841 | 132325603 | C | CACACACA others(9): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 366 | 0.0027 | 16 | c.121 others(33): 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(9): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00609.hp1 others(43): Show |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0003a0001c0002t0004a0001c0002t0011others(5): Show | a0001c0002t0003g0010 a0001c0002t0003g0059 a0001c0002t0003g0065 others(41): Show |
46 | 187 | 0.2460 | 16 | c.782 others(33): Show |
ACP3 | ENSG00000014257.17 | transcript | ENST00000336375.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACP5_chr19_11569660_11582645 | 11576006 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01952.hp1 HG02055.hp1 others(8): Show |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0005 | 11 | 228 | 0.0482 | 16 | c.735 others(31): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
ACP5_chr19_11569660_11582645 | 11579604 | A | AGGGGGGG others(9): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0006 | a0006c0017 | a0006c0017t0001 | a0006c0017t0001g0075 | 1 | 442 | 0.0023 | 16 | c.-20 others(27): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 1960 | chr19 | TogoVar | |||||||
ACP7_chr19_39079368_39116493 | 39102715 | T | TTTTCTTT others(9): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01255.hp1 HG01361.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0006a0001c0003t0003a0001c0003t0006others(3): Show | a0001c0001t0006g0103 a0001c0001t0006g0204 a0001c0003t0003g0003 others(12): Show |
15 | 136 | 0.1103 | 16 | c.111 others(35): 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(9): Show |
intron_variant | MODIFIER | HG04199.hp1 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008 a0001c0001t0002g0001 |
2 | 61 | 0.0328 | 16 | c.53- others(29): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
ACRV1_chr11_125666522_125685847 | 125679228 | T | TTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 6 | 424 | 0.0142 | 16 | c.53- others(29): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78215724 | G | GAGAAAGA others(9): Show |
intron_variant | MODIFIER | HG04184.hp1 NA18944.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0151 |
2 | 106 | 0.0189 | 16 | c.132 others(33): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78215727 | A | AAAGAAAG others(9): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01361.hp2 HG01943.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0004others(6): Show | a0001c0001t0001g0226 a0001c0001t0001g0251 a0001c0001t0001g0281 others(14): Show |
17 | 342 | 0.0497 | 16 | c.132 others(33): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78225401 | C | CAATAAAT others(9): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01515.hp2 HG02723.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0005 | a0001c0001t0001g0314 a0001c0001t0001g0315 a0002c0005t0005g0313 others(1): Show |
4 | 112 | 0.0357 | 16 | c.131 others(33): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78235958 | A | AACACACA others(9): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02723.hp2 NA18951.hp1 |
a0002 | a0002c0002a0002c0005 | a0002c0002t0004a0002c0005t0034 | a0002c0002t0004g0055 a0002c0002t0004g0056 a0002c0005t0034g0225 |
3 | 19 | 0.1579 | 16 | c.-14 others(27): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1394 | chr15 | TogoVar | |||||||
ACSBG2_chr19_6130667_6198091 | 6153878 | G | GGAAAAGA others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(108): Show |
a0001a0003a0014others(1): Show | a0001c0001a0001c0017a0001c0024others(3): Show | a0001c0001t0001a0001c0017t0001a0001c0024t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(108): Show |
111 | 260 | 0.4269 | 16 | c.386 others(33): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 4/14 | chr19 | TogoVar | |||||||
ACSBG2_chr19_6130667_6198091 | 6166280 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02886.hp2 HG02965.hp1 others(3): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0003a0002c0002t0001a0006c0006t0001 | a0001c0001t0003g0141 a0001c0001t0003g0142 a0002c0002t0001g0024 others(3): Show |
6 | 42 | 0.1429 | 16 | c.738 others(31): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6166280 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19030.hp2 |
a0003a0004 | a0003c0011a0004c0003 | a0003c0011t0001a0004c0003t0002 | a0003c0011t0001g0160 a0004c0003t0002g0136 |
2 | 38 | 0.0526 | 16 | c.738 others(31): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6166280 | T | TTTTGTGT others(9): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0243 | 1 | 37 | 0.0270 | 16 | c.738 others(31): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6192071 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02258.hp1 others(5): Show |
a0003 | a0003c0004a0003c0012 | a0003c0004t0002a0003c0012t0002 | a0003c0004t0002g0006 a0003c0004t0002g0007 a0003c0004t0002g0008 others(5): Show |
8 | 105 | 0.0762 | 16 | c.*36 others(31): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSL1_chr4_184750595_184830968 | 184786418 | G | GCACGCAC others(9): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03540.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0156 a0001c0002t0002g0220 |
2 | 85 | 0.0235 | 16 | c.310 others(33): Show |
ACSL1 | ENSG00000151726.16 | transcript | ENST00000281455.7 | protein_coding | 3/20 | chr4 | TogoVar | |||||||
ACSL1_chr4_184750595_184830968 | 184826087 | C | CCGGCCCC others(9): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00544.hp1 others(132): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(117): Show |
135 | 386 | 0.3497 | 16 | c.-22 others(25): Show |
ACSL1 | ENSG00000151726.16 | transcript | ENST00000281455.7 | protein_coding | 120 | chr4 | TogoVar | |||||||
ACSL5_chr10_112369116_112433376 | 112401839 | T | TCTTTCTT others(9): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 234 | 0.0043 | 16 | c.266 others(33): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112423219 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 a0001c0001t0001g0210 |
2 | 149 | 0.0134 | 16 | c.159 others(33): 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(9): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 66 | 0.0152 | 16 | c.130 others(33): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20664147 | G | GTATTTAT others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(224): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(10): Show | a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0024 others(218): Show |
227 | 238 | 0.9538 | 16 | c.913 others(33): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 6/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20664171 | T | TTATTTAT others(9): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0133 | 1 | 316 | 0.0032 | 16 | c.913 others(33): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 6/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20672471 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0254 | 1 | 170 | 0.0059 | 16 | c.612 others(31): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20672471 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18947.hp1 NA18967.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0005 | a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0171 others(1): Show |
4 | 173 | 0.0231 | 16 | c.612 others(31): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20672471 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02735.hp1 NA18972.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0047 a0001c0003t0001g0108 a0001c0003t0001g0138 others(4): Show |
7 | 176 | 0.0398 | 16 | c.612 others(31): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20678011 | A | AAAATAAA others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00621.hp1 others(80): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(7): Show | a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0025 others(79): Show |
83 | 151 | 0.5497 | 16 | c.611 others(33): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20697556 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0311 | 1 | 25 | 0.0400 | 16 | c.-52 others(29): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2A_chr16_20446521_20492669 | 20458905 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | NA18955.hp1 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024 | a0001c0001t0001g0156 a0001c0001t0024g0157 |
2 | 345 | 0.0058 | 16 | c.-8- others(31): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20488494 | C | CAGAGAGA others(9): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0227 | 1 | 298 | 0.0034 | 16 | c.*18 others(27): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 826 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20535485 | C | CTGTGTGT others(9): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02895.hp1 others(1): Show |
a0001a0006 | a0001c0002a0006c0010 | a0001c0002t0004a0006c0010t0003a0006c0010t0017 | a0001c0002t0004g0226 a0006c0010t0003g0012 a0006c0010t0003g0119 others(1): Show |
4 | 74 | 0.0541 | 16 | c.*17 others(27): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 740 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20566758 | A | AGTATATA others(9): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0129 | 1 | 386 | 0.0026 | 16 | c.-8- others(31): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM5_chr16_20404534_20446336 | 20409863 | A | AGGAGAGG others(9): Show |
intron_variant | MODIFIER | HG03516.hp1 NA18944.hp1 NA18948.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(2): Show |
5 | 307 | 0.0163 | 16 | c.-16 others(31): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20443452 | T | TTGAATGA others(9): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 HG02148.hp2 NA20752.hp1 |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0005 | a0001c0001t0001a0003c0003t0003a0006c0005t0009 | a0001c0001t0001g0066 a0003c0003t0003g0030 a0006c0005t0009g0304 |
3 | 165 | 0.0182 | 16 | c.*30 others(27): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 2117 | chr16 | TogoVar | |||||||
ACSS1_chr20_25001237_25063139 | 25037001 | A | AAAGGAAG others(9): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03195.hp2 HG03453.hp2 others(1): Show |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0030 a0004c0008t0001g0031 a0004c0008t0001g0033 others(1): Show |
4 | 199 | 0.0201 | 16 | c.432 others(33): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 2/13 | chr20 | TogoVar | |||||||
ACSS2_chr20_34871612_34932959 | 34877909 | C | CAGATAGA others(9): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00642.hp2 others(51): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0002t0002a0002c0004t0001others(3): Show | a0001c0001t0001g0010 a0001c0001t0001g0162 a0001c0001t0001g0163 others(50): Show |
54 | 139 | 0.3885 | 16 | c.178 others(33): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACSS2_chr20_34871612_34932959 | 34899423 | T | TTTCCTTC others(9): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01069.hp1 HG01070.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 a0001c0002t0001g0038 a0001c0002t0001g0042 others(7): Show |
10 | 166 | 0.0602 | 16 | c.375 others(35): 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(9): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 81 | 0.0123 | 16 | c.312 others(33): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213896 | T | TTTTCCTT others(9): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02145.hp1 HG03831.hp1 others(13): Show |
a0001 | a0001c0002a0001c0016 | a0001c0002t0002a0001c0002t0009a0001c0002t0024others(1): Show | a0001c0002t0002g0024 a0001c0002t0002g0138 a0001c0002t0002g0158 others(13): Show |
16 | 260 | 0.0615 | 16 | c.135 others(35): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | chr12 | TogoVar | |||||||
ACSS3_chr12_81073079_81266210 | 81213953 | C | CTCTTTCT others(9): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01361.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0226 |
2 | 281 | 0.0071 | 16 | c.135 others(35): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213957 | C | CTCTTTCT others(9): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01884.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0035 others(13): Show |
16 | 75 | 0.2133 | 16 | c.135 others(35): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |