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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATAD2_chr8_123314850_123401447 | 123329981 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0015 | 1 | 17 | 0.0588 | 11 | c.347 others(30): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 24/27 | chr8 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123354864 | A | AAAAATAT others(4): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0016 | 1 | 135 | 0.0074 | 11 | c.164 others(30): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 13/27 | chr8 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123377091 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01346.hp1 HG01346.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0208 others(7): Show |
10 | 56 | 0.1786 | 11 | c.320 others(28): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 2/27 | chr8 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123378701 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0132 | 1 | 13 | 0.0769 | 11 | c.320 others(28): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 2/27 | chr8 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123385185 | T | TGAGCATG others(4): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 276 | 0.0036 | 11 | c.172 others(28): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 1/27 | chr8 | TogoVar | |||||||
ATAD3A_chr1_1507162_1539685 | 1524189 | G | GCCTCCAC others(4): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 420 | 0.0024 | 11 | c.109 others(26): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATAD3B_chr1_1466765_1502848 | 1469099 | T | TAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0009 | a0009c0012 | a0009c0012t0006 | a0009c0012t0006g0185 | 1 | 43 | 0.0233 | 11 | c.-27 others(22): Show |
ATAD3B | ENSG00000160072.20 | transcript | ENST00000673477.1 | protein_coding | 2665 | chr1 | TogoVar | |||||||
ATAD3C_chr1_1444689_1475163 | 1448118 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG02451.hp2 HG03098.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0036a0001c0004t0017a0001c0005t0072others(1): Show | a0001c0001t0036g0287 a0001c0004t0017g0040 a0001c0004t0017g0043 others(3): Show |
6 | 358 | 0.0168 | 11 | c.-25 others(22): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 1570 | chr1 | TogoVar | |||||||
ATAD3C_chr1_1444689_1475163 | 1457595 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03516.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0156a0002c0002t0009 | a0001c0001t0156g0213 a0002c0002t0009g0051 |
2 | 336 | 0.0060 | 11 | c.741 others(26): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATAD3C_chr1_1444689_1475163 | 1469099 | T | TAAAAAAA others(4): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG02015.hp2 HG02572.hp1 others(1): Show |
a0001a0002 | a0001c0004a0001c0019a0002c0002 | a0001c0004t0052a0001c0019t0098a0002c0002t0097 | a0001c0004t0052g0140 a0001c0004t0052g0151 a0001c0019t0098g0065 others(1): Show |
4 | 51 | 0.0784 | 11 | c.*59 others(20): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 12/12 | 607 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATAD5_chr17_30826966_30900869 | 30827140 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02886.hp2 others(3): Show |
a0004a0007 | a0004c0003a0007c0008 | a0004c0003t0004a0007c0008t0001 | a0004c0003t0004g0086 a0004c0003t0004g0089 a0004c0003t0004g0092 others(3): Show |
6 | 121 | 0.0496 | 11 | c.-52 others(22): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 4825 | chr17 | TogoVar | |||||||
ATAD5_chr17_30826966_30900869 | 30850869 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03669.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0175 a0001c0001t0003g0189 |
2 | 201 | 0.0100 | 11 | c.245 others(30): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATAD5_chr17_30826966_30900869 | 30850869 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0232 | 1 | 200 | 0.0050 | 11 | c.245 others(30): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATAD5_chr17_30826966_30900869 | 30850870 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01192.hp1 NA19006.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0226 a0001c0001t0003g0235 a0001c0001t0005g0249 |
3 | 262 | 0.0115 | 11 | c.245 others(30): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
ATF2_chr2_175067259_175173203 | 175141022 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 160 | 0.0063 | 11 | c.-43 others(28): Show |
ATF2 | ENSG00000115966.18 | transcript | ENST00000264110.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
ATF2_chr2_175067259_175173203 | 175163918 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03688.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0140 a0001c0001t0002g0191 a0001c0001t0002g0192 |
3 | 27 | 0.1111 | 11 | c.-14 others(30): Show |
ATF2 | ENSG00000115966.18 | transcript | ENST00000264110.7 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
ATF6B_chr6_32110264_32133246 | 32128355 | C | CAGATGCG others(4): Show |
upstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 438 | 0.0023 | 11 | c.-14 others(20): Show |
ATF6B | ENSG00000213676.13 | transcript | ENST00000375203.8 | protein_coding | 110 | chr6 | TogoVar | |||||||
ATF6B_chr6_32110264_32133246 | 32128780 | T | TCCTGTGT others(4): Show |
upstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 438 | 0.0023 | 11 | c.-57 others(20): Show |
ATF6B | ENSG00000213676.13 | transcript | ENST00000375203.8 | protein_coding | 535 | chr6 | TogoVar | |||||||
ATF6_chr1_161761320_161969070 | 161829189 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02572.hp1 NA18939.hp2 others(6): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0008a0002c0003t0022 | a0002c0003t0002g0238 a0002c0003t0002g0250 a0002c0003t0002g0269 others(6): Show |
9 | 189 | 0.0476 | 11 | c.118 others(30): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATF6_chr1_161761320_161969070 | 161920294 | C | CTCTTTTT others(4): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0321 | 1 | 2 | 0.5000 | 11 | c.180 others(30): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATF6_chr1_161761320_161969070 | 161920294 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG01358.hp1 others(22): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0001c0002t0016a0001c0002t0017others(8): Show | a0001c0002t0001g0165 a0001c0002t0001g0174 a0001c0002t0001g0178 others(22): Show |
25 | 26 | 0.9615 | 11 | c.180 others(30): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATF7IP_chr12_14360682_14507930 | 14363971 | A | ATTTCTTT others(4): Show |
upstream_gene_variant | MODIFIER | NA18981.hp2 | a0002 | a0002c0006 | a0002c0006t0008 | a0002c0006t0008g0224 | 1 | 344 | 0.0029 | 11 | c.-18 others(22): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 1710 | chr12 | TogoVar | |||||||
ATF7IP_chr12_14360682_14507930 | 14426823 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0003 | a0003c0014 | a0003c0014t0013 | a0003c0014t0013g0167 | 1 | 337 | 0.0030 | 11 | c.155 others(30): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATF7IP_chr12_14360682_14507930 | 14481923 | C | CATATGTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(187): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0020a0002c0002others(14): Show | a0001c0001t0019a0001c0020t0036a0002c0002t0001others(27): Show | a0001c0001t0019g0065 a0001c0020t0036g0134 a0002c0002t0001g0007 others(182): Show |
190 | 344 | 0.5523 | 11 | c.328 others(28): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATF7_chr12_53507054_53631382 | 53535328 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02055.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0045 a0001c0001t0001g0046 others(12): Show |
15 | 264 | 0.0568 | 11 | c.403 others(26): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 5/11 | chr12 | TogoVar | |||||||
ATF7_chr12_53507054_53631382 | 53542107 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(92): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(10): Show | a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0193 others(92): Show |
95 | 257 | 0.3697 | 11 | c.264 others(28): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 4/11 | chr12 | TogoVar | |||||||
ATF7_chr12_53507054_53631382 | 53575574 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01433.hp1 NA18993.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122 a0001c0001t0002g0129 a0001c0001t0002g0132 |
3 | 267 | 0.0112 | 11 | c.49- others(28): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
ATF7_chr12_53507054_53631382 | 53587843 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 205 | 0.0049 | 11 | c.48+ others(28): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
ATF7_chr12_53507054_53631382 | 53587844 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02293.hp1 HG02602.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(2): Show | a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0259 others(11): Show |
14 | 254 | 0.0551 | 11 | c.48+ others(28): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
ATF7_chr12_53507054_53631382 | 53609821 | C | CTTTGTTT others(4): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0030 | 1 | 71 | 0.0141 | 11 | c.-21 others(28): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 1/11 | chr12 | TogoVar | |||||||
ATF7_chr12_53507054_53631382 | 53609821 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(99): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 others(99): Show |
102 | 172 | 0.5930 | 11 | c.-21 others(28): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 1/11 | chr12 | TogoVar | |||||||
ATF7_chr12_53507054_53631382 | 53628150 | A | AAATAAAT others(4): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00544.hp1 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(6): Show | a0001c0001t0001g0057 a0001c0001t0001g0237 a0001c0001t0001g0238 others(70): Show |
73 | 316 | 0.2310 | 11 | c.-18 others(22): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 1769 | chr12 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 81993310 | C | CTTTCTTT others(4): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02109.hp2 HG02723.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0002a0002c0002t0013others(1): Show | a0001c0001t0009g0216 a0001c0001t0009g0218 a0002c0002t0002g0125 others(3): Show |
6 | 215 | 0.0279 | 11 | c.108 others(28): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 81993332 | C | CTTCTTCT others(4): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0002 | a0002c0002t0033 | a0002c0002t0033g0070 | 1 | 124 | 0.0081 | 11 | c.108 others(28): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 81993365 | T | TTCTTTCT others(4): Show |
intron_variant | MODIFIER | HG02280.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0031 a0001c0001t0016g0032 |
2 | 219 | 0.0091 | 11 | c.108 others(28): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82118400 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0018 | 1 | 186 | 0.0054 | 11 | c.217 others(30): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82138851 | C | CCCCCTCC others(4): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 224 | 0.0045 | 11 | c.217 others(30): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82161696 | A | ACACACAC others(4): Show |
intron_variant | MODIFIER | HG01433.hp2 NA19083.hp1 NA19083.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0004a0002c0002t0008a0003c0003t0001 | a0002c0002t0004g0094 a0002c0002t0008g0122 a0003c0003t0001g0176 |
3 | 30 | 0.1000 | 11 | c.217 others(28): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | chr5 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 82254928 | G | GTGTGTGT others(4): Show |
3_prime_UTR_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0002 | a0002c0002t0032 | a0002c0002t0032g0120 | 1 | 223 | 0.0045 | 11 | c.*86 others(20): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 8/8 | 1504 | chr5 | TogoVar | ||||||
ATG14_chr14_55361391_55416830 | 55373010 | G | GAGGGTCC others(4): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(161): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(21): Show | a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0017 others(137): Show |
164 | 364 | 0.4505 | 11 | c.117 others(30): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 9/9 | chr14 | TogoVar | |||||||
ATG14_chr14_55361391_55416830 | 55380876 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03225.hp1 HG03579.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0003a0004c0005t0003 | a0001c0001t0003g0171 a0001c0001t0003g0200 a0001c0001t0003g0204 others(3): Show |
6 | 202 | 0.0297 | 11 | c.878 others(26): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 6/9 | chr14 | TogoVar | |||||||
ATG14_chr14_55361391_55416830 | 55402922 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0076 | 1 | 323 | 0.0031 | 11 | c.222 others(28): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ATG14_chr14_55361391_55416830 | 55402926 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG00639.hp2 NA20905.hp1 |
a0001a0002 | a0001c0002a0002c0007 | a0001c0002t0002a0002c0007t0002 | a0001c0002t0002g0097 a0002c0007t0002g0039 |
2 | 191 | 0.0105 | 11 | c.222 others(28): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ATG2A_chr11_64889546_64922209 | 64898769 | T | TCCCCATA others(4): Show |
frameshift_variant | HIGH | NA19058.hp1 | a0032 | a0032c0045 | a0032c0045t0001 | a0032c0045t0001g0143 | 1 | 370 | 0.0027 | 11 | c.453 others(20): Show |
p.Glu others(6): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 32/41 | 4611/6318 | 4537/5817 | 1513/1938 | chr11 | TogoVar | |||
ATG2B_chr14_96274195_96368341 | 96308283 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG02723.hp2 NA18963.hp1 NA18986.hp2 |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0004a0002c0001t0006 | a0002c0001t0002g0139 a0002c0001t0004g0119 a0002c0001t0006g0159 |
3 | 329 | 0.0091 | 11 | c.430 others(30): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | |||||||
ATG3_chr3_112527510_112566962 | 112544658 | G | GAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01071.hp1 HG01123.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0028 others(4): Show |
18 | 36 | 0.5000 | 11 | c.344 others(26): Show |
ATG3 | ENSG00000144848.11 | transcript | ENST00000283290.10 | protein_coding | 5/11 | chr3 | TogoVar | |||||||
ATG4B_chr2_241632693_241678857 | 241642871 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0146 | 1 | 63 | 0.0159 | 11 | c.10+ others(26): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATG4B_chr2_241632693_241678857 | 241643692 | T | TCCCCCCC others(4): Show |
intron_variant | MODIFIER | HG06807.hp1 NA18955.hp2 NA18966.hp1 others(1): Show |
a0001a0003 | a0001c0005a0003c0004 | a0001c0005t0002a0003c0004t0006a0003c0004t0009 | a0001c0005t0002g0064 a0001c0005t0002g0090 a0003c0004t0006g0088 others(1): Show |
4 | 383 | 0.0104 | 11 | c.10+ others(26): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATG4D_chr19_10538904_10558418 | 10548003 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00423.hp1 HG03654.hp2 NA18612.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0001a0004c0010t0001 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0084 others(4): Show |
8 | 14 | 0.5714 | 11 | c.835 others(26): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ATG5_chr6_106179476_106330760 | 106294845 | G | GAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01516.hp2 HG02129.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0001a0001c0001t0012a0001c0004t0002others(1): Show | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0270 others(6): Show |
9 | 310 | 0.0290 | 11 | c.237 others(28): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 3/7 | chr6 | TogoVar |