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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATAD2B_chr2_23743664_23932123 | 23792962 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005a0001c0001t0004g0117 | 2 | 246 | 0.0081 | 11 | c.264 others(30): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 19/27 | chr2 | TogoVar | ||||||
ATAD2B_chr2_23743664_23932123 | 23805795 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01256.hp2 HG02257.hp1 others(1): Show |
a0001a0008 | a0001c0001a0008c0012 | a0001c0001t0001a0008c0012t0001 | a0001c0001t0001g0144a0001c0001t0001g0154a0001c0001t0001g0205others(1): Show | 4 | 246 | 0.0163 | 11 | c.245 others(30): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 18/27 | chr2 | TogoVar | ||||||
ATAD2_chr8_123314850_123401447 | 123329981 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0008 | a0002c0008t0004 | a0002c0008t0004g0015 | 1 | 278 | 0.0036 | 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 | a0003 | a0003c0002 | a0003c0002t0006 | a0003c0002t0006g0016 | 1 | 278 | 0.0036 | 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 |
a0001a0002a0003others(1): Show | a0001c0001a0002c0008a0003c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0008t0004others(2): Show | a0001c0001t0001g0209a0001c0001t0001g0211a0001c0001t0001g0218others(7): Show | 10 | 278 | 0.0360 | 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 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0132 | 1 | 278 | 0.0036 | 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 | a0001c0001t0002g0044 | 1 | 278 | 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 | a0001c0001t0001g0159 | 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 | a0008 | a0008c0012 | a0008c0012t0011 | a0008c0012t0011g0188 | 1 | 276 | 0.0036 | 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 | a0001c0001t0036g0315a0001c0004t0017g0037a0001c0004t0017g0040others(3): Show | 6 | 410 | 0.0146 | 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 | a0001c0001t0156g0229a0002c0002t0009g0048 | 2 | 410 | 0.0049 | 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 | a0001c0004t0052g0143a0001c0004t0052g0158a0001c0019t0098g0063others(1): Show | 4 | 410 | 0.0098 | 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 |
a0003a0007 | a0003c0003a0007c0008 | a0003c0003t0004a0007c0008t0001 | a0003c0003t0004g0088a0003c0003t0004g0091a0003c0003t0004g0094others(3): Show | 6 | 286 | 0.0210 | 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 | a0001c0001t0003g0180a0001c0001t0003g0194 | 2 | 286 | 0.0070 | 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 | a0001c0001t0003g0235 | 1 | 286 | 0.0035 | 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 | a0001c0001t0003g0225a0001c0001t0003g0226a0001c0001t0005g0254 | 3 | 286 | 0.0105 | 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 | 224 | 0.0045 | 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 | a0001c0001t0001g0140a0001c0001t0002g0191a0001c0001t0002g0192 | 3 | 224 | 0.0134 | 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 | 439 | 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 | 439 | 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 | a0002c0003t0002g0241a0002c0003t0002g0252a0002c0003t0002g0272others(6): Show | 9 | 332 | 0.0271 | 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 | a0001c0001t0028g0324 | 1 | 332 | 0.0030 | 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(23): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0001c0002t0016a0001c0002t0017others(8): Show | a0001c0002t0001g0166a0001c0002t0001g0175a0001c0002t0001g0179others(23): Show | 26 | 332 | 0.0783 | 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 | 346 | 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 | a0003c0014t0013g0164 | 1 | 346 | 0.0029 | 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(188): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0020a0002c0002others(14): Show | a0001c0001t0019a0001c0020t0036a0002c0002t0001others(27): Show | a0001c0001t0019g0062a0001c0020t0036g0131a0002c0002t0001g0004others(185): Show | 191 | 346 | 0.5520 | 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 | a0001c0001t0001g0029a0001c0001t0001g0044a0001c0001t0001g0045others(12): Show | 15 | 330 | 0.0455 | 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 | a0001c0001t0001g0149a0001c0001t0001g0158a0001c0001t0001g0193others(92): Show | 95 | 330 | 0.2879 | 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 | a0001c0001t0002g0122a0001c0001t0002g0128a0001c0001t0002g0131 | 3 | 330 | 0.0091 | 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 | 330 | 0.0030 | 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 | a0001c0001t0001g0244a0001c0001t0001g0246a0001c0001t0001g0259others(11): Show | 14 | 330 | 0.0424 | 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 | 330 | 0.0030 | 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(100): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0033a0001c0001t0001g0036a0001c0001t0001g0037others(100): Show | 103 | 330 | 0.3121 | 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(71): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(6): Show | a0001c0001t0001g0056a0001c0001t0001g0237a0001c0001t0001g0238others(71): Show | 74 | 330 | 0.2242 | 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 | a0001c0001t0009g0216a0001c0001t0009g0218a0002c0002t0002g0125others(3): Show | 6 | 226 | 0.0266 | 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 | a0002c0002t0033g0057 | 1 | 226 | 0.0044 | 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 | a0001c0001t0016g0031a0001c0001t0016g0032 | 2 | 226 | 0.0089 | 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 | a0001c0001t0042g0014 | 1 | 226 | 0.0044 | 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 | 226 | 0.0044 | 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 | a0002c0002t0004g0094a0002c0002t0008g0122a0003c0003t0001g0176 | 3 | 226 | 0.0133 | 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 | 226 | 0.0044 | 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 | a0001c0001t0002g0003a0001c0001t0002g0029a0001c0001t0002g0033others(154): Show | 164 | 366 | 0.4481 | 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 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0003a0003c0005t0003 | a0001c0001t0003g0180a0001c0001t0003g0212a0001c0001t0003g0220others(3): Show | 6 | 366 | 0.0164 | 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 | a0001c0002t0002g0094 | 1 | 366 | 0.0027 | 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 | a0001c0002t0002g0088a0002c0007t0002g0024 | 2 | 366 | 0.0055 | 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 | a0029 | a0029c0045 | a0029c0045t0001 | a0029c0045t0001g0183 | 1 | 372 | 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 | a0002c0001t0002g0137a0002c0001t0004g0117a0002c0001t0006g0163 | 3 | 356 | 0.0084 | 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 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0028others(4): Show | 18 | 376 | 0.0479 | 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 | a0001c0002t0005 | a0001c0002t0005g0075 | 1 | 410 | 0.0024 | 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 | a0001c0005t0005a0003c0004t0007a0003c0004t0010 | a0001c0005t0005g0180a0001c0005t0005g0198a0003c0004t0007g0196others(1): Show | 4 | 410 | 0.0098 | 11 | c.10+ others(26): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 1/12 | chr2 | TogoVar |