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 | 62850891 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01934.hp2 HG02886.hp2 HG02895.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0010 | a0001c0001t0002g0015 a0001c0001t0002g0241 a0001c0001t0002g0284 others(15): Show |
20 | 320 | 0.0625 | -12 | c.120 others(31): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATG4C_chr1_62779132_62870516 | 62853285 | TGTGTACC others(5): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 320 | 0.0031 | -12 | c.121 others(33): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATG4C_chr1_62779132_62870516 | 62861576 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0242 | 1 | 214 | 0.0047 | -12 | c.121 others(31): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATG4C_chr1_62779132_62870516 | 62861616 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG01109.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 others(24): Show |
27 | 320 | 0.0844 | -12 | c.121 others(31): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATG4D_chr19_10538904_10558418 | 10548003 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG03710.hp1 NA18949.hp2 NA19055.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0181 |
4 | 10 | 0.4000 | -12 | c.835 others(27): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ATG5_chr6_106179476_106330760 | 106246386 | TCTCTCTC others(5): Show |
T | intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 356 | 0.0028 | -12 | c.573 others(29): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106246392 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG01891.hp1 others(2): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0011 a0001c0003t0002g0012 a0001c0003t0002g0014 others(2): Show |
5 | 183 | 0.0273 | -12 | c.573 others(29): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106251691 | CAGAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0330 a0001c0001t0001g0331 |
2 | 356 | 0.0056 | -12 | c.479 others(29): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106269783 | TCTCCCTC others(5): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0322 | 1 | 356 | 0.0028 | -12 | c.478 others(29): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106297717 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG01943.hp2 HG02145.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0008 | a0001c0001t0001g0217 a0001c0001t0001g0263 a0001c0001t0001g0264 others(2): Show |
5 | 133 | 0.0376 | -12 | c.237 others(29): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106297755 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG01074.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0022 others(27): Show |
33 | 356 | 0.0927 | -12 | c.237 others(29): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106312623 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp2 others(85): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 others(81): Show |
88 | 199 | 0.4422 | -12 | c.108 others(29): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11304453 | GCATGACC others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(270): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0015 others(270): Show |
273 | 290 | 0.9414 | -12 | c.216 others(29): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11334969 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0127 |
2 | 290 | 0.0069 | -12 | c.889 others(29): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 11/20 | chr3 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11366971 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01168.hp1 HG01169.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0039a0002c0003t0008others(6): Show | a0001c0001t0001g0042 a0001c0002t0039g0007 a0002c0003t0008g0275 others(12): Show |
15 | 55 | 0.2727 | -12 | c.187 others(31): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11395939 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01943.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0104 a0001c0001t0002g0069 a0001c0001t0003g0068 others(5): Show |
8 | 226 | 0.0354 | -12 | c.195 others(33): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11411619 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01891.hp2 HG02055.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0002g0217 a0001c0001t0003g0170 a0001c0001t0003g0172 others(14): Show |
17 | 47 | 0.3617 | -12 | c.195 others(33): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11422740 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA18974.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068 a0001c0001t0003g0135 |
2 | 41 | 0.0488 | -12 | 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 | 11462841 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00642.hp2 others(35): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0034 others(35): Show |
38 | 55 | 0.6909 | -12 | c.207 others(33): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11478989 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0181 | 1 | 213 | 0.0047 | -12 | c.207 others(33): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11497357 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01070.hp2 others(26): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(12): Show | a0001c0001t0001g0093 a0001c0001t0001g0157 a0001c0001t0001g0159 others(26): Show |
29 | 68 | 0.4265 | -12 | c.208 others(33): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11506573 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG03225.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0084 a0001c0001t0002g0193 a0001c0001t0002g0199 |
3 | 290 | 0.0103 | -12 | c.208 others(33): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | chr3 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11519539 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 65 | 0.0154 | -12 | c.208 others(33): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11527061 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG02630.hp1 HG02895.hp2 |
a0001 | a0001c0002 | a0001c0002t0039a0001c0002t0042 | a0001c0002t0039g0007 a0001c0002t0042g0180 |
2 | 290 | 0.0069 | -12 | c.208 others(33): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11557775 | CCTCAGCT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0160 | 1 | 290 | 0.0034 | -12 | c.*29 others(23): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 111 | chr3 | TogoVar | |||||||
ATIC_chr2_215307059_215354764 | 215332131 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00642.hp1 others(33): Show |
a0001a0002a0007 | a0001c0001a0001c0007a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(6): Show | a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0030 others(26): Show |
36 | 49 | 0.7347 | -12 | c.689 others(27): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATL1_chr14_50555145_50638045 | 50564647 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01069.hp1 others(18): Show |
a0001a0002 | a0001c0003a0002c0013 | a0001c0003t0001a0002c0013t0001 | a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0008 others(15): Show |
21 | 95 | 0.2211 | -12 | c.34+ 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(5): Show |
G | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 256 | 0.0039 | -12 | c.35- others(29): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ATL1_chr14_50555145_50638045 | 50574937 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0055 |
3 | 143 | 0.0210 | -12 | c.35- others(29): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ATL1_chr14_50555145_50638045 | 50616455 | GTTATTTA others(5): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 54 | 0.0185 | -12 | c.862 others(29): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38325649 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 234 | 0.0043 | -12 | c.364 others(29): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38325661 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG02056.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0024a0002c0002t0001 | a0001c0001t0024g0055 a0002c0002t0001g0179 |
2 | 135 | 0.0148 | -12 | c.364 others(29): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38325699 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02723.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0087 |
3 | 152 | 0.0197 | -12 | c.364 others(29): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38337486 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 28 | 0.0357 | -12 | c.363 others(29): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38343149 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00642.hp2 others(64): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0079 a0001c0001t0001g0094 a0001c0001t0002g0050 others(64): Show |
67 | 151 | 0.4437 | -12 | c.363 others(27): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38370448 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0215 | 1 | 23 | 0.0435 | -12 | c.118 others(29): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATL3_chr11_63619087_63676376 | 63628834 | CAAAAAAA others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG03654.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0022 a0001c0001t0015g0024 |
2 | 192 | 0.0104 | -12 | c.*47 others(21): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 13/13 | 473 | chr11 | TogoVar | ||||||
ATL3_chr11_63619087_63676376 | 63640594 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02523.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 a0001c0001t0001g0200 |
2 | 171 | 0.0117 | -12 | c.850 others(29): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
ATL3_chr11_63619087_63676376 | 63654289 | GACGCCCG others(5): Show |
G | intron_variant | MODIFIER | HG03486.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0055 |
2 | 240 | 0.0083 | -12 | c.406 others(29): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 3/12 | chr11 | TogoVar | |||||||
ATM_chr11_108218067_108374102 | 108232527 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 30 | 0.0333 | -12 | c.332 others(29): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 4/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108317615 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0256 | 1 | 89 | 0.0112 | -12 | c.634 others(29): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108317646 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG02055.hp1 |
a0001a0002 | a0001c0012a0002c0005 | a0001c0012t0038a0002c0005t0008 | a0001c0012t0038g0301 a0002c0005t0008g0098 |
2 | 283 | 0.0071 | -12 | c.634 others(29): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108354070 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 |
a0002 | a0002c0009 | a0002c0009t0003 | a0002c0009t0003g0135 a0002c0009t0003g0136 |
2 | 141 | 0.0142 | -12 | c.878 others(29): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 60/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATN1_chr12_6922959_6947321 | 6936728 | ACAGCAGC others(5): Show |
A | disruptive_inframe_deletion | MODERATE | HG00738.hp1 HG01109.hp1 HG01358.hp2 others(14): Show |
a0001a0010 | a0001c0001a0010c0022 | a0001c0001t0001a0010c0022t0001 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0026 others(8): Show |
17 | 138 | 0.1232 | -12 | c.149 others(21): Show |
p.Gln others(13): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2085/4702 | 1497/3573 | 499/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ATOH1_chr4_93823753_93835964 | 93834598 | AACGGTTG others(5): Show |
A | downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 1 | 456 | 0.0022 | -12 | c.*46 others(23): Show |
ATOH1 | ENSG00000172238.6 | transcript | ENST00000306011.6 | protein_coding | 3635 | chr4 | TogoVar | |||||||
ATOH8_chr2_85748991_85796383 | 85783627 | CAGTAAGC others(5): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG03041.hp1 HG03471.hp1 others(1): Show |
a0002a0003a0004 | a0002c0002a0002c0004a0003c0003others(1): Show | a0002c0002t0008a0002c0004t0008a0003c0003t0008others(1): Show | a0002c0002t0008g0053 a0002c0004t0008g0099 a0003c0003t0008g0100 others(1): Show |
4 | 376 | 0.0106 | -12 | c.961 others(29): Show |
ATOH8 | ENSG00000168874.13 | transcript | ENST00000306279.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATOSA_chr15_52576321_52684388 | 52615360 | TCAATTTG others(5): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0339 | 1 | 360 | 0.0028 | -12 | c.17- others(27): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52622960 | TATAAATA others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(115): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0015a0001c0019others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0177 a0001c0001t0001g0206 a0001c0001t0001g0209 others(110): Show |
118 | 138 | 0.8551 | -12 | c.17- others(27): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52676390 | GAAATAGA others(5): Show |
G | intron_variant | MODIFIER | HG00597.hp2 NA18961.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 360 | 0.0056 | -12 | c.16+ others(27): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52679755 | TCTCCTCC others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00673.hp1 others(75): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0015a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(72): Show |
78 | 223 | 0.3498 | -12 | c.-10 others(23): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 368 | chr15 | TogoVar |