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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACP7_chr19_39079368_39116493 | 39102118 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02027.hp1 HG02145.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0028a0001c0002t0002a0001c0002t0005others(6): Show | a0001c0001t0028g0217 a0001c0002t0002g0124 a0001c0002t0002g0157 others(11): Show |
15 | 220 | 0.0682 | 8 | c.111 others(25): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACP7_chr19_39079368_39116493 | 39102715 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01515.hp2 HG01934.hp2 others(19): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0006a0001c0003t0003a0001c0003t0006others(2): Show | a0001c0001t0006g0137 a0001c0003t0003g0001 a0001c0003t0003g0003 others(18): Show |
22 | 143 | 0.1538 | 8 | c.111 others(27): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACP7_chr19_39079368_39116493 | 39107578 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01081.hp1 HG01175.hp1 others(6): Show |
a0001 | a0001c0004a0001c0010 | a0001c0004t0004a0001c0004t0017a0001c0010t0004 | a0001c0004t0004g0048 a0001c0004t0004g0050 a0001c0004t0004g0071 others(6): Show |
9 | 187 | 0.0481 | 8 | c.125 others(25): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACRV1_chr11_125666522_125685847 | 125678978 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00741.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0009 |
6 | 65 | 0.0923 | 8 | c.53- others(21): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78165681 | C | CTTTATTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(171): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(10): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(24): Show | a0001c0001t0001g0212 a0001c0001t0001g0213 a0002c0002t0001g0185 others(168): Show |
174 | 341 | 0.5103 | 8 | c.*57 others(19): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1786 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78215724 | G | GAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00738.hp2 HG01192.hp1 others(38): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0006a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0016others(10): Show | a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0022 others(38): Show |
41 | 145 | 0.2828 | 8 | c.132 others(25): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78215735 | A | AAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG01934.hp1 HG01952.hp1 NA19057.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0005 a0002c0003t0001g0101 a0002c0003t0001g0297 |
4 | 348 | 0.0115 | 8 | c.132 others(25): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78225401 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01074.hp2 HG01099.hp1 others(28): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0021others(3): Show | a0001c0001t0001a0001c0006t0010a0001c0021t0023others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0149 a0001c0001t0001g0150 others(27): Show |
31 | 139 | 0.2230 | 8 | c.131 others(25): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78235958 | A | AACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG01081.hp1 HG01934.hp2 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0016a0001c0006t0010others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0071 a0001c0001t0001g0085 others(26): Show |
30 | 46 | 0.6522 | 8 | c.-14 others(19): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1394 | chr15 | TogoVar | |||||||
ACSBG2_chr19_6130667_6198091 | 6138602 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(122): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0020a0001c0024others(9): Show | a0001c0001t0001a0001c0020t0001a0001c0024t0001others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(122): Show |
125 | 233 | 0.5365 | 8 | c.-32 others(25): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6154402 | A | AAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00642.hp1 others(53): Show |
a0002a0005a0006others(3): Show | a0002c0002a0005c0007a0006c0006others(3): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0005others(6): Show | a0002c0002t0001g0005 a0002c0002t0001g0042 a0002c0002t0001g0062 others(53): Show |
56 | 191 | 0.2932 | 8 | c.387 others(25): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6166280 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01074.hp2 HG01496.hp2 others(11): Show |
a0002a0011a0012 | a0002c0002a0011c0014a0012c0025 | a0002c0002t0001a0002c0002t0004a0002c0002t0006others(2): Show | a0002c0002t0001g0020 a0002c0002t0001g0022 a0002c0002t0001g0067 others(11): Show |
14 | 50 | 0.2800 | 8 | c.738 others(23): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6181221 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02080.hp1 HG02486.hp2 others(3): Show |
a0003a0004a0007others(2): Show | a0003c0011a0004c0003a0007c0008others(2): Show | a0003c0011t0001a0004c0003t0001a0007c0008t0002others(2): Show | a0003c0011t0001g0160 a0004c0003t0001g0044 a0007c0008t0002g0162 others(3): Show |
6 | 213 | 0.0282 | 8 | c.907 others(25): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6192071 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02622.hp1 others(5): Show |
a0001a0006a0014 | a0001c0001a0006c0006a0014c0023 | a0001c0001t0001a0001c0001t0003a0006c0006t0001others(1): Show | a0001c0001t0001g0015 a0001c0001t0003g0142 a0001c0001t0003g0163 others(5): Show |
8 | 105 | 0.0762 | 8 | c.*36 others(23): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSF2_chr17_50421218_50479837 | 50448129 | A | AGATGGTA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG02109.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0002a0001c0009t0001 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(5): Show |
8 | 318 | 0.0252 | 8 | c.129 others(27): Show |
ACSF2 | ENSG00000167107.13 | transcript | ENST00000300441.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ACSF2_chr17_50421218_50479837 | 50461927 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01099.hp1 others(22): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0001c0002t0002a0003c0005t0002 | a0001c0002t0001g0027 a0001c0002t0001g0239 a0001c0002t0001g0246 others(20): Show |
25 | 152 | 0.1645 | 8 | c.508 others(23): Show |
ACSF2 | ENSG00000167107.13 | transcript | ENST00000300441.9 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ACSF3_chr16_89088852_89161233 | 89125698 | A | AAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(65): Show |
a0001a0003a0009others(1): Show | a0001c0001a0001c0005a0001c0018others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(14): Show | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0112 others(63): Show |
68 | 145 | 0.4690 | 8 | c.123 others(27): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSL1_chr4_184750595_184830968 | 184769070 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00738.hp2 others(7): Show |
a0001 | a0001c0002a0001c0009 | a0001c0002t0002a0001c0002t0004a0001c0009t0002 | a0001c0002t0002g0036 a0001c0002t0002g0057 a0001c0002t0002g0064 others(7): Show |
10 | 16 | 0.6250 | 8 | c.994 others(23): Show |
ACSL1 | ENSG00000151726.16 | transcript | ENST00000281455.7 | protein_coding | 11/20 | chr4 | TogoVar | |||||||
ACSL3_chr2_222856036_222949639 | 222901964 | A | AAAAAAAT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01081.hp2 HG02109.hp1 others(28): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0032 a0001c0001t0001g0047 a0001c0001t0001g0048 others(27): Show |
31 | 48 | 0.6458 | 8 | c.-41 others(25): Show |
ACSL3 | ENSG00000123983.15 | transcript | ENST00000357430.8 | protein_coding | 3/16 | chr2 | TogoVar | |||||||
ACSL3_chr2_222856036_222949639 | 222923789 | A | AGTAGTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(223): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(217): Show |
226 | 250 | 0.9040 | 8 | c.115 others(25): Show |
ACSL3 | ENSG00000123983.15 | transcript | ENST00000357430.8 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112390655 | A | AATAGATA others(1): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG02080.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 others(5): Show |
8 | 98 | 0.0816 | 8 | c.-29 others(25): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112401786 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG03130.hp2 NA18994.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0178 a0001c0001t0001g0251 a0001c0001t0002g0269 others(1): Show |
4 | 308 | 0.0130 | 8 | c.266 others(25): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112401839 | T | TCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01175.hp1 HG02602.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0195 a0001c0001t0001g0347 |
4 | 237 | 0.0169 | 8 | c.266 others(25): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112417201 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(106): Show |
a0001a0007 | a0001c0001a0001c0005a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 others(99): Show |
109 | 121 | 0.9008 | 8 | c.121 others(25): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112419102 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(64): Show |
a0001 | a0001c0001a0001c0005a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(60): Show |
67 | 131 | 0.5115 | 8 | c.131 others(27): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20627869 | C | CATACATA others(1): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02074.hp2 HG02486.hp2 others(13): Show |
a0001a0009a0010 | a0001c0001a0009c0011a0010c0015 | a0001c0001t0002a0009c0011t0002a0010c0015t0002 | a0001c0001t0002g0026 a0001c0001t0002g0064 a0001c0001t0002g0103 others(13): Show |
16 | 81 | 0.1975 | 8 | c.130 others(25): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20664147 | G | GTATTTAT others(1): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03209.hp2 NA18961.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0002g0073 a0001c0002t0001g0056 a0001c0003t0001g0171 others(1): Show |
4 | 15 | 0.2667 | 8 | c.913 others(25): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 6/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20669441 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03098.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0001 | a0001c0001t0002g0074 a0001c0001t0002g0099 a0001c0005t0001g0223 |
3 | 96 | 0.0313 | 8 | c.912 others(23): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 6/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20672471 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG02027.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 a0001c0001t0002g0034 a0001c0001t0002g0144 others(6): Show |
9 | 178 | 0.0506 | 8 | c.612 others(23): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20683715 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(52): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0006others(4): Show | a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0043 others(49): Show |
55 | 90 | 0.6111 | 8 | c.404 others(25): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 3/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20691751 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01081.hp2 HG01975.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001a0001c0003t0004 | a0001c0001t0002g0088 a0001c0001t0002g0154 a0001c0001t0002g0155 others(7): Show |
10 | 54 | 0.1852 | 8 | c.-51 others(23): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20697556 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02015.hp2 HG02155.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0003t0001 | a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0002t0001g0305 others(1): Show |
4 | 28 | 0.1429 | 8 | c.-52 others(21): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2A_chr16_20446521_20492669 | 20458905 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02056.hp1 others(5): Show |
a0001a0015 | a0001c0001a0015c0028 | a0001c0001t0001a0015c0028t0001 | a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0090 others(2): Show |
8 | 351 | 0.0228 | 8 | c.-8- others(23): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20535485 | C | CTGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG01109.hp1 others(32): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(10): Show | a0001c0001t0001g0001 a0001c0002t0002g0029 a0001c0002t0002g0228 others(30): Show |
35 | 105 | 0.3333 | 8 | c.*17 others(19): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 740 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20566247 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 NA20300.hp2 |
a0001a0005 | a0001c0002a0005c0011 | a0001c0002t0002a0001c0002t0003a0005c0011t0008 | a0001c0002t0002g0252 a0001c0002t0003g0253 a0005c0011t0008g0321 |
3 | 36 | 0.0833 | 8 | c.-8- others(23): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20566247 | T | TTTTATAT others(1): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02809.hp2 HG03195.hp1 others(12): Show |
a0002 | a0002c0003a0002c0009 | a0002c0003t0005a0002c0003t0013a0002c0009t0009 | a0002c0003t0005g0009 a0002c0003t0005g0051 a0002c0003t0005g0052 others(11): Show |
15 | 48 | 0.3125 | 8 | c.-8- others(23): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20566658 | A | ACTATATA others(1): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG02647.hp1 others(3): Show |
a0001a0003a0014others(1): Show | a0001c0002a0003c0007a0014c0028others(1): Show | a0001c0002t0003a0003c0007t0003a0014c0028t0003others(1): Show | a0001c0002t0003g0013 a0003c0007t0003g0014 a0014c0028t0003g0123 others(1): Show |
6 | 221 | 0.0271 | 8 | c.-8- others(23): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM5_chr16_20404534_20446336 | 20409274 | A | AAAACAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02109.hp2 others(8): Show |
a0002a0005 | a0002c0002a0005c0008a0005c0009others(1): Show | a0002c0002t0012a0005c0008t0006a0005c0009t0006others(1): Show | a0002c0002t0012g0298 a0005c0008t0006g0312 a0005c0008t0006g0313 others(6): Show |
11 | 428 | 0.0257 | 8 | c.-40 others(17): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 259 | chr16 | TogoVar | |||||||
ACSM5_chr16_20404534_20446336 | 20432847 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01515.hp2 HG02040.hp1 others(40): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0038a0001c0039others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(9): Show | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0014 others(29): Show |
43 | 160 | 0.2688 | 8 | c.130 others(27): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20443452 | T | TTGAATGA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00609.hp1 others(28): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0004others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0052 others(23): Show |
31 | 193 | 0.1606 | 8 | c.*30 others(19): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 2117 | chr16 | TogoVar | |||||||
ACSS1_chr20_25001237_25063139 | 25037005 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00673.hp2 HG01074.hp1 others(14): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0009others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0189 others(14): Show |
17 | 74 | 0.2297 | 8 | c.432 others(25): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 2/13 | chr20 | TogoVar | |||||||
ACSS2_chr20_34871612_34932959 | 34877909 | C | CAGATAGA others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01261.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 others(14): Show |
17 | 102 | 0.1667 | 8 | c.178 others(25): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACSS2_chr20_34871612_34932959 | 34879496 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01891.hp1 HG02109.hp1 others(12): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 others(11): Show |
15 | 41 | 0.3659 | 8 | c.178 others(25): 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(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01106.hp1 others(27): Show |
a0001a0006 | a0001c0002a0006c0009 | a0001c0002t0001a0006c0009t0001 | a0001c0002t0001g0002 a0001c0002t0001g0018 a0001c0002t0001g0028 others(27): Show |
30 | 186 | 0.1613 | 8 | c.375 others(27): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81094180 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02965.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 |
3 | 238 | 0.0126 | 8 | c.312 others(27): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81098151 | A | AGAGTGTG others(1): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01981.hp2 HG02027.hp1 others(1): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0006a0001c0011t0006 | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0006g0110 others(1): Show |
4 | 162 | 0.0247 | 8 | c.312 others(27): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81107511 | C | CACACATA others(1): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02965.hp1 HG04204.hp2 |
a0001a0002 | a0001c0001a0001c0005a0002c0014 | a0001c0001t0003a0001c0005t0007a0002c0014t0003 | a0001c0001t0003g0216 a0001c0005t0007g0289 a0002c0014t0003g0233 |
3 | 83 | 0.0361 | 8 | c.312 others(25): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81108264 | A | ATTATTAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG00738.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0022others(6): Show | a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0242 others(31): Show |
34 | 249 | 0.1365 | 8 | c.312 others(25): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | chr12 | TogoVar | |||||||
ACSS3_chr12_81073079_81266210 | 81137321 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 NA18957.hp2 NA18989.hp2 others(2): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0005a0002c0004t0003 | a0002c0003t0005g0271 a0002c0003t0005g0275 a0002c0003t0005g0278 others(2): Show |
5 | 121 | 0.0413 | 8 | c.646 others(25): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81157931 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG02486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0028a0001c0002t0032 | a0001c0001t0004g0096 a0001c0001t0004g0196 a0001c0001t0004g0197 others(2): Show |
5 | 142 | 0.0352 | 8 | c.109 others(27): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |