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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATG7_chr3_11267397_11562665 | 11374892 | CAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01891.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0104 a0001c0001t0002g0069 a0001c0001t0002g0217 others(12): Show |
15 | 37 | 0.4054 | -6 | c.187 others(25): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11469988 | CAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp2 others(76): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0104 a0001c0001t0001g0210 a0001c0001t0001g0219 others(76): Show |
79 | 111 | 0.7117 | -6 | c.207 others(27): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11475868 | GACACAC | G | intron_variant | MODIFIER | HG00639.hp2 HG02451.hp1 HG02622.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0010a0001c0002t0035 | a0001c0001t0010g0164 a0001c0002t0010g0163 a0001c0002t0010g0167 others(1): Show |
4 | 46 | 0.0870 | -6 | c.207 others(27): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11478989 | AACACAC | A | intron_variant | MODIFIER | HG01943.hp1 HG02559.hp1 HG03098.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0006a0001c0002t0013a0001c0002t0024others(1): Show | a0001c0001t0006g0152 a0001c0002t0013g0151 a0001c0002t0013g0270 others(2): Show |
5 | 217 | 0.0230 | -6 | c.207 others(27): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11506579 | AAAAAAC | A | intron_variant | MODIFIER | HG01081.hp2 HG01891.hp2 HG02055.hp1 others(4): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0008 | a0001c0001t0002a0001c0001t0004a0001c0002t0017others(1): Show | a0001c0001t0002g0217 a0001c0001t0004g0148 a0001c0001t0004g0254 others(4): Show |
7 | 290 | 0.0241 | -6 | c.208 others(27): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | chr3 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11515704 | TCATACA | T | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01168.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0006a0001c0002t0004a0001c0002t0040others(7): Show | a0001c0001t0006g0252 a0001c0001t0006g0257 a0001c0001t0006g0272 others(15): Show |
18 | 290 | 0.0621 | -6 | c.208 others(27): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11519539 | GTTTTTT | G | intron_variant | MODIFIER | HG02809.hp2 HG02818.hp1 HG02895.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0020a0001c0001t0036a0001c0002t0039others(2): Show | a0001c0001t0020g0061 a0001c0001t0036g0123 a0001c0002t0039g0007 others(3): Show |
6 | 70 | 0.0857 | -6 | c.208 others(27): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11524282 | GCCCATT | G | intron_variant | MODIFIER | NA18955.hp2 NA18981.hp1 NA19010.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0215 a0001c0002t0001g0204 a0001c0002t0001g0240 |
3 | 290 | 0.0103 | -6 | c.208 others(27): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11527069 | GTGTATA | G | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02809.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0004a0005c0008t0004 | a0001c0001t0004g0148 a0001c0001t0004g0253 a0001c0001t0004g0255 others(2): Show |
5 | 217 | 0.0230 | -6 | c.208 others(27): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11527071 | GTATATA | G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00673.hp2 others(63): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0210 a0001c0001t0001g0219 a0001c0001t0001g0220 others(63): Show |
66 | 142 | 0.4648 | -6 | c.208 others(27): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATIC_chr2_215307059_215354764 | 215311095 | AAAAAAG | A | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(50): Show |
a0001a0012 | a0001c0001a0012c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(27): Show |
53 | 380 | 0.1395 | -6 | c.-10 others(17): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 963 | chr2 | TogoVar | |||||||
ATIC_chr2_215307059_215354764 | 215332131 | CGTGTGT | C | intron_variant | MODIFIER | HG02145.hp1 HG02809.hp2 HG02895.hp1 others(8): Show |
a0001a0005a0010 | a0001c0001a0001c0005a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0216 a0001c0001t0002g0082 a0001c0001t0005g0024 others(5): Show |
11 | 24 | 0.4583 | -6 | c.689 others(21): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATIC_chr2_215307059_215354764 | 215334189 | CTTTTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02559.hp1 others(4): Show |
a0001a0011 | a0001c0001a0001c0007a0011c0018 | a0001c0001t0001a0001c0007t0001a0011c0018t0001 | a0001c0001t0001g0129 a0001c0001t0001g0164 a0001c0001t0001g0165 others(3): Show |
7 | 167 | 0.0419 | -6 | c.923 others(21): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATL1_chr14_50555145_50638045 | 50574908 | AGTGTGT | A | intron_variant | MODIFIER | HG00597.hp1 HG00738.hp1 HG01123.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0025 a0001c0001t0001g0088 a0001c0001t0001g0106 others(9): Show |
13 | 268 | 0.0485 | -6 | c.35- others(23): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ATL1_chr14_50555145_50638045 | 50574933 | GTGTGTA | G | intron_variant | MODIFIER | HG00423.hp1 HG01261.hp2 HG03041.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0210 others(5): Show |
10 | 249 | 0.0402 | -6 | c.35- others(23): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ATL1_chr14_50555145_50638045 | 50634534 | AGAGATG | A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG01257.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0087 others(20): Show |
25 | 318 | 0.0786 | -6 | c.*21 others(17): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1490 | chr14 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38325623 | TACATAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00642.hp2 others(46): Show |
a0001a0002a0007 | a0001c0001a0002c0006a0007c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0094 a0001c0001t0002g0050 a0001c0001t0002g0051 others(46): Show |
49 | 214 | 0.2290 | -6 | c.364 others(23): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38325627 | TACACAC | T | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02922.hp1 others(1): Show |
a0001a0003 | a0001c0003a0003c0005 | a0001c0003t0002a0003c0005t0001 | a0001c0003t0002g0131 a0003c0005t0001g0046 a0003c0005t0001g0047 others(1): Show |
4 | 173 | 0.0231 | -6 | c.364 others(23): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38325661 | TACACAC | T | intron_variant | MODIFIER | HG00558.hp1 HG02055.hp1 HG02258.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0005others(1): Show | a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 others(6): Show |
9 | 142 | 0.0634 | -6 | c.364 others(23): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38325699 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp2 HG01516.hp1 HG02056.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0156 a0002c0002t0001g0175 a0002c0002t0001g0179 others(5): Show |
8 | 157 | 0.0510 | -6 | c.364 others(23): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38325897 | TTGTTTG | T | intron_variant | MODIFIER | HG02132.hp2 NA18943.hp2 NA18950.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0132 a0001c0001t0004g0135 a0001c0001t0004g0136 others(8): Show |
11 | 234 | 0.0470 | -6 | c.364 others(23): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38340594 | AAAACTT | A | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01109.hp1 others(45): Show |
a0001a0003a0004 | a0001c0003a0003c0004a0003c0005others(2): Show | a0001c0003t0003a0001c0003t0006a0001c0003t0009others(13): Show | a0001c0003t0003g0008 a0001c0003t0003g0009 a0001c0003t0003g0011 others(45): Show |
48 | 234 | 0.2051 | -6 | c.363 others(23): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38365134 | TACACAC | T | intron_variant | MODIFIER | HG02040.hp2 HG02129.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0226 a0002c0002t0001g0227 |
2 | 187 | 0.0107 | -6 | c.118 others(25): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38365162 | CACAAAT | C | intron_variant | MODIFIER | HG00738.hp2 HG01243.hp1 HG01884.hp1 others(13): Show |
a0003 | a0003c0004a0003c0005 | a0003c0004t0003a0003c0005t0001a0003c0005t0003 | a0003c0004t0003g0033 a0003c0004t0003g0034 a0003c0004t0003g0035 others(13): Show |
16 | 234 | 0.0684 | -6 | c.118 others(25): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATM_chr11_108218067_108374102 | 108237899 | GTTTTTT | G | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01081.hp1 others(39): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0034others(7): Show | a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0160 others(38): Show |
42 | 156 | 0.2692 | -6 | c.496 others(23): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 5/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108241738 | CTTTCTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00733.hp2 others(13): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0026a0003c0003t0001 | a0001c0001t0001g0211 a0001c0001t0001g0222 a0001c0001t0001g0224 others(13): Show |
16 | 211 | 0.0758 | -6 | c.497 others(23): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 5/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108266485 | TGGGGTG | T | 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 | -6 | c.246 others(23): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 16/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108268379 | CTTAGTG | C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0155 a0001c0001t0011g0156 a0001c0001t0011g0195 others(1): Show |
4 | 302 | 0.0132 | -6 | c.263 others(21): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 17/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108317615 | TTATATA | T | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00639.hp1 others(18): Show |
a0001a0003a0010 | a0001c0001a0003c0003a0010c0014 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(2): Show | a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0200 others(18): Show |
21 | 109 | 0.1927 | -6 | c.634 others(23): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108317650 | TATACAC | T | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02717.hp1 others(1): Show |
a0002a0016 | a0002c0002a0002c0009a0016c0021 | a0002c0002t0003a0002c0009t0003a0016c0021t0036 | a0002c0002t0003g0145 a0002c0009t0003g0135 a0002c0009t0003g0136 others(1): Show |
4 | 175 | 0.0229 | -6 | c.634 others(23): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108354064 | CACACAA | C | intron_variant | MODIFIER | HG02615.hp1 HG03209.hp2 HG03942.hp2 others(10): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0017a0001c0001t0019others(5): Show | a0001c0001t0001g0284 a0001c0001t0017g0176 a0001c0001t0019g0244 others(10): Show |
13 | 302 | 0.0430 | -6 | c.878 others(23): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 60/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATN1_chr12_6922959_6947321 | 6925141 | TGAGAGA | T | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01891.hp1 HG02630.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0005a0002c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0100 a0001c0001t0001g0106 others(5): Show |
10 | 364 | 0.0275 | -6 | c.-34 others(17): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 2817 | chr12 | TogoVar | |||||||
ATN1_chr12_6922959_6947321 | 6936716 | CCAGCAA | C | disruptive_inframe_deletion | MODERATE | HG00741.hp1 HG01433.hp1 HG01891.hp1 others(16): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0003t0005a0002c0004t0001 | a0002c0003t0001g0012 a0002c0003t0001g0027 a0002c0003t0001g0031 others(10): Show |
19 | 412 | 0.0461 | -6 | c.146 others(15): Show |
p.Gln others(13): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2049/4702 | 1461/3573 | 487/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ATN1_chr12_6922959_6947321 | 6936728 | ACAGCAG | A | disruptive_inframe_deletion | MODERATE | HG00408.hp1 HG01261.hp2 HG01884.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(10): Show |
29 | 150 | 0.1933 | -6 | c.150 others(15): Show |
p.Gln others(13): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2091/4702 | 1503/3573 | 501/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ATOH8_chr2_85748991_85796383 | 85756178 | TGGGGTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(274): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(226): Show |
277 | 376 | 0.7367 | -6 | c.768 others(23): Show |
ATOH8 | ENSG00000168874.13 | transcript | ENST00000306279.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATOSA_chr15_52576321_52684388 | 52679755 | TCTCCTC | T | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01255.hp1 HG01884.hp1 others(28): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(7): Show | a0001c0001t0001g0192 a0001c0001t0002g0100 a0001c0001t0002g0101 others(27): Show |
31 | 176 | 0.1761 | -6 | c.-10 others(17): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 368 | chr15 | TogoVar | |||||||
ATOX1_chr5_151737822_151763631 | 151763522 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(89): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0024 others(26): Show |
92 | 251 | 0.3665 | -6 | c.-49 others(17): Show |
ATOX1 | ENSG00000177556.12 | transcript | ENST00000313115.11 | protein_coding | 4892 | chr5 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25676725 | ATATAAT | A | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01069.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0001a0001c0014t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0009 a0001c0001t0001g0136 a0001c0001t0001g0137 others(19): Show |
22 | 298 | 0.0738 | -6 | c.*26 others(17): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1986 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25714965 | TACACAC | T | intron_variant | MODIFIER | HG01123.hp1 HG01943.hp2 HG02055.hp1 others(8): Show |
a0002a0007a0016others(5): Show | a0002c0002a0007c0016a0016c0024others(5): Show | a0002c0002t0001a0007c0016t0001a0016c0024t0001others(5): Show | a0002c0002t0001g0059 a0002c0002t0001g0080 a0002c0002t0001g0184 others(8): Show |
11 | 130 | 0.0846 | -6 | c.177 others(23): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 9/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25721543 | CGTGTGT | C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG01074.hp2 others(13): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0138 a0001c0001t0001g0272 a0001c0001t0002g0290 others(13): Show |
16 | 107 | 0.1495 | -6 | c.136 others(23): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 7/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25750704 | TATGATG | T | intron_variant | MODIFIER | HG00733.hp2 NA19058.hp1 NA20905.hp1 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0004c0004t0001 | a0002c0002t0001g0032 a0002c0002t0001g0154 a0004c0004t0001g0226 |
3 | 6 | 0.5000 | -6 | c.655 others(25): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25773818 | CCACACA | C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(149): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0014a0001c0019others(40): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0001others(46): Show | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0039 others(149): Show |
152 | 227 | 0.6696 | -6 | c.654 others(23): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25779845 | AACACAC | A | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01516.hp1 others(11): Show |
a0001a0002a0006others(8): Show | a0001c0001a0002c0002a0006c0053others(8): Show | a0001c0001t0001a0002c0002t0001a0006c0053t0001others(9): Show | a0001c0001t0001g0061 a0001c0001t0001g0192 a0002c0002t0001g0118 others(11): Show |
14 | 42 | 0.3333 | -6 | c.654 others(23): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25845322 | TTGTGTG | T | intron_variant | MODIFIER | HG00735.hp2 HG02257.hp1 HG02258.hp2 others(12): Show |
a0002a0003a0004others(10): Show | a0002c0002a0003c0064a0004c0004others(11): Show | a0002c0002t0001a0003c0064t0001a0004c0004t0001others(11): Show | a0002c0002t0001g0217 a0003c0064t0001g0241 a0004c0004t0001g0213 others(12): Show |
15 | 210 | 0.0714 | -6 | c.449 others(25): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25847609 | CTTTTTT | C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00642.hp1 others(15): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(8): Show | a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0002g0290 others(15): Show |
18 | 26 | 0.6923 | -6 | c.449 others(25): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160577398 | GATAATA | G | intron_variant | MODIFIER | NA19004.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 a0001c0001t0001g0123 |
2 | 234 | 0.0085 | -6 | c.375 others(25): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 24/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160585974 | ATTTTAC | A | intron_variant | MODIFIER | HG01884.hp2 HG02809.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0008a0001c0011 | a0001c0008t0019a0001c0008t0037a0001c0011t0041 | a0001c0008t0019g0029 a0001c0008t0019g0087 a0001c0008t0037g0023 others(1): Show |
4 | 234 | 0.0171 | -6 | c.375 others(25): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 24/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160653775 | TATATAC | T | intron_variant | MODIFIER | HG01192.hp2 HG02280.hp2 HG02559.hp1 others(5): Show |
a0002a0016a0017 | a0002c0003a0002c0004a0002c0013others(2): Show | a0002c0003t0005a0002c0003t0006a0002c0004t0004others(4): Show | a0002c0003t0005g0192 a0002c0003t0005g0214 a0002c0003t0006g0220 others(5): Show |
8 | 223 | 0.0359 | -6 | c.676 others(23): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160659468 | TAAAAAC | T | intron_variant | MODIFIER | HG01099.hp1 HG01123.hp1 HG01243.hp2 others(21): Show |
a0001a0002a0003others(7): Show | a0001c0005a0001c0008a0001c0011others(10): Show | a0001c0005t0012a0001c0008t0045a0001c0011t0041others(12): Show | a0001c0005t0012g0002 a0001c0005t0012g0004 a0001c0008t0045g0026 others(21): Show |
24 | 231 | 0.1039 | -6 | c.676 others(25): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160693403 | AACACAC | A | intron_variant | MODIFIER | HG00099.hp2 HG01071.hp1 HG02486.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0003a0001c0002t0005a0001c0011t0035 | a0001c0001t0003g0099 a0001c0002t0005g0017 a0001c0002t0005g0021 others(2): Show |
5 | 42 | 0.1190 | -6 | c.-20 others(25): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar |