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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATG4C_chr1_62779132_62870516 | 62850854 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG03225.hp1 NA18747.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0253 a0001c0001t0001g0254 others(1): Show |
4 | 202 | 0.0198 | -10 | c.120 others(29): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATG4C_chr1_62779132_62870516 | 62850893 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG02258.hp1 HG02818.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0004a0002c0005t0001 | a0001c0001t0002g0134 a0001c0001t0004g0008 a0002c0005t0001g0298 |
3 | 320 | 0.0094 | -10 | c.120 others(29): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATG4C_chr1_62779132_62870516 | 62861576 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG02886.hp2 HG02922.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0010a0002c0005t0001 | a0001c0001t0002g0015 a0001c0001t0002g0241 a0001c0001t0002g0289 others(9): Show |
13 | 226 | 0.0575 | -10 | c.121 others(29): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATG4C_chr1_62779132_62870516 | 62861618 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG02559.hp1 HG03225.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 a0001c0001t0001g0234 a0001c0001t0001g0237 others(3): Show |
6 | 320 | 0.0188 | -10 | c.121 others(29): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATG5_chr6_106179476_106330760 | 106246390 | TCTCACAC others(3): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG01952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0054 |
2 | 251 | 0.0080 | -10 | c.573 others(27): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106246392 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0013 | 1 | 179 | 0.0056 | -10 | c.573 others(27): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106278954 | TTAATATA others(3): Show |
T | intron_variant | MODIFIER | NA19003.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0055 | 1 | 356 | 0.0028 | -10 | c.478 others(25): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106290259 | ATTTATTT others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG01071.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0006 a0001c0001t0001g0077 a0001c0001t0001g0093 others(21): Show |
25 | 352 | 0.0710 | -10 | c.315 others(27): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106297717 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG02155.hp2 HG02630.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 a0001c0001t0001g0154 a0001c0001t0001g0155 others(2): Show |
5 | 133 | 0.0376 | -10 | c.237 others(27): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106297757 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG02040.hp2 HG02135.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0023 others(16): Show |
20 | 356 | 0.0562 | -10 | c.237 others(27): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106312623 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02922.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0332 a0001c0001t0005g0333 |
2 | 113 | 0.0177 | -10 | c.108 others(27): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11269003 | TGAGGATG others(3): Show |
T | upstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 290 | 0.0034 | -10 | c.-37 others(21): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 3393 | chr3 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11285139 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01496.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0043 | a0001c0001t0001g0084 a0001c0001t0043g0054 |
2 | 121 | 0.0165 | -10 | c.-11 others(27): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11366971 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG01978.hp2 HG02109.hp1 HG02145.hp1 |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0004a0005c0008t0004 | a0001c0001t0001g0115 a0001c0001t0004g0273 a0005c0008t0004g0258 |
3 | 43 | 0.0698 | -10 | c.187 others(29): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11374892 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18951.hp2 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0019 a0001c0001t0003g0043 |
2 | 24 | 0.0833 | -10 | c.187 others(29): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11411619 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG01081.hp2 HG02155.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0226 a0001c0001t0002g0206 a0001c0001t0002g0250 others(6): Show |
9 | 39 | 0.2308 | -10 | c.195 others(31): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11442739 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 49 | 0.0204 | -10 | c.207 others(31): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11470888 | TTCAGTCT others(3): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp1 HG03195.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0013 | a0001c0001t0002g0193 a0001c0001t0002g0197 a0001c0001t0002g0260 others(4): Show |
7 | 290 | 0.0241 | -10 | c.207 others(31): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11476418 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0039 | a0001c0002t0039g0007 | 1 | 165 | 0.0061 | -10 | c.207 others(31): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11497357 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG02896.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0007 | a0001c0001t0001g0076 a0001c0002t0007g0186 |
2 | 41 | 0.0488 | -10 | c.208 others(31): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11506575 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00609.hp2 others(78): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0040 others(78): Show |
81 | 290 | 0.2793 | -10 | c.208 others(31): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | chr3 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11506576 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 280 | 0.0036 | -10 | c.208 others(31): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | chr3 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11519539 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0254 a0001c0001t0004g0273 |
2 | 66 | 0.0303 | -10 | c.208 others(31): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11527041 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01099.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0020a0001c0001t0044others(3): Show | a0001c0001t0003g0008 a0001c0001t0003g0025 a0001c0001t0003g0043 others(16): Show |
19 | 257 | 0.0739 | -10 | c.208 others(31): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11527063 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0118 | 1 | 290 | 0.0034 | -10 | c.208 others(31): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11527065 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0254 | 1 | 287 | 0.0035 | -10 | c.208 others(31): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11527067 | GTGTGTAT others(3): Show |
G | intron_variant | MODIFIER | NA18950.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001 | a0001c0001t0004g0256 a0001c0002t0001g0066 |
2 | 288 | 0.0069 | -10 | c.208 others(31): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11527069 | GTGTATAT others(3): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG01168.hp2 HG01175.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0147 |
3 | 215 | 0.0140 | -10 | c.208 others(31): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11550548 | ACTATGCC others(3): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp1 HG02818.hp1 others(4): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0008a0002c0004t0025 | a0002c0003t0008g0275 a0002c0003t0008g0276 a0002c0003t0008g0277 others(4): Show |
7 | 290 | 0.0241 | -10 | c.208 others(29): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG9B_chr7_151010151_151029494 | 151029478 | TTTTTCTT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0026 | 1 | 423 | 0.0024 | -10 | c.-50 others(21): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 4985 | chr7 | TogoVar | |||||||
ATIC_chr2_215307059_215354764 | 215332131 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(95): Show |
a0001a0012 | a0001c0001a0012c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(52): Show |
98 | 111 | 0.8829 | -10 | c.689 others(25): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATL1_chr14_50555145_50638045 | 50555262 | TTTTTGTT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(170): Show |
a0001 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(160): Show |
173 | 318 | 0.5440 | -10 | c.-50 others(21): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 4882 | chr14 | TogoVar | |||||||
ATL1_chr14_50555145_50638045 | 50574929 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 316 | 0.0032 | -10 | c.35- others(27): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ATL1_chr14_50555145_50638045 | 50574931 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00673.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0090 others(23): Show |
28 | 283 | 0.0989 | -10 | c.35- others(27): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ATL1_chr14_50555145_50638045 | 50574933 | GTGTGTAT others(3): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01069.hp2 HG02056.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0129 a0001c0001t0001g0130 others(5): Show |
8 | 247 | 0.0324 | -10 | c.35- others(27): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ATL1_chr14_50555145_50638045 | 50574937 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 141 | 0.0071 | -10 | c.35- others(27): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ATL1_chr14_50555145_50638045 | 50610005 | CCTCTGCC others(3): Show |
C | intron_variant | MODIFIER | HG00438.hp2 NA18998.hp1 NA18999.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0115 others(2): Show |
5 | 318 | 0.0157 | -10 | c.631 others(27): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38325627 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01516.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0156 | 1 | 170 | 0.0059 | -10 | c.364 others(27): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38325661 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | NA18998.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0206 | 1 | 134 | 0.0075 | -10 | c.364 others(27): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38325689 | CACACACC others(3): Show |
C | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0121 | 1 | 229 | 0.0044 | -10 | c.364 others(27): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38325699 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0221 | 1 | 150 | 0.0067 | -10 | c.364 others(27): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38325901 | TTGTTTAA others(3): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02622.hp1 HG03516.hp1 |
a0001a0006 | a0001c0001a0001c0003a0006c0009 | a0001c0001t0013a0001c0003t0006a0006c0009t0014 | a0001c0001t0013g0099 a0001c0003t0006g0095 a0006c0009t0014g0005 |
3 | 220 | 0.0136 | -10 | c.364 others(27): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38325902 | TGTTTAAA others(3): Show |
T | intron_variant | MODIFIER | HG02809.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0003a0003c0004t0011a0003c0004t0016 | a0003c0004t0003g0029 a0003c0004t0011g0030 a0003c0004t0011g0031 others(1): Show |
4 | 215 | 0.0186 | -10 | c.364 others(27): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38370162 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG03831.hp2 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0006 | a0001c0003t0002g0131 a0001c0003t0006g0003 |
2 | 234 | 0.0085 | -10 | c.118 others(27): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATL3_chr11_63619087_63676376 | 63661578 | AAAGAGAA others(3): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02258.hp2 HG02723.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0007 a0001c0002t0010g0016 a0001c0002t0010g0018 |
4 | 235 | 0.0170 | -10 | c.47- others(25): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 1/12 | chr11 | TogoVar | |||||||
ATM_chr11_108218067_108374102 | 108282465 | GTTGGAAA others(3): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG02257.hp2 HG02922.hp1 others(1): Show |
a0008a0018 | a0008c0013a0018c0033 | a0008c0013t0012a0018c0033t0012 | a0008c0013t0012g0118 a0008c0013t0012g0120 a0008c0013t0012g0121 others(1): Show |
4 | 302 | 0.0132 | -10 | c.357 others(27): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 24/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108317644 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02622.hp1 |
a0001 | a0001c0010 | a0001c0010t0002a0001c0010t0031 | a0001c0010t0002g0054 a0001c0010t0031g0032 |
2 | 294 | 0.0068 | -10 | c.634 others(27): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108317646 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0012 | a0001c0012t0024 | a0001c0012t0024g0299 | 1 | 282 | 0.0035 | -10 | c.634 others(27): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108317648 | TATATACA others(3): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02647.hp2 HG03225.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0002a0002c0002t0003a0002c0005t0008 | a0001c0001t0002g0089 a0001c0001t0002g0090 a0002c0002t0003g0137 others(1): Show |
4 | 198 | 0.0202 | -10 | c.634 others(27): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108354060 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG02602.hp1 | a0005 | a0005c0006 | a0005c0006t0005 | a0005c0006t0005g0174 | 1 | 302 | 0.0033 | -10 | c.878 others(27): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 60/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |