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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP6V1E1_chr22_17587136_17633749 | 17631670 | GTATATAT others(13): Show |
G | upstream_gene_variant | MODIFIER | HG02015.hp1 NA18967.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 a0001c0001t0001g0091 |
2 | 215 | 0.0093 | -20 | c.-30 others(31): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2922 | chr22 | TogoVar | |||||||
ATP6V1G3_chr1_198518222_198545680 | 198529198 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 404 | 0.0025 | -20 | c.83- others(31): Show |
ATP6V1G3 | ENSG00000151418.12 | transcript | ENST00000367382.6 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
ATP6V1G3_chr1_198518222_198545680 | 198538287 | AAGATTGC others(13): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG03139.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 others(3): Show |
6 | 404 | 0.0149 | -20 | c.82+ others(35): Show |
ATP6V1G3 | ENSG00000151418.12 | transcript | ENST00000367382.6 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53739130 | TTAATTTA others(13): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | 284 | 0.0070 | -20 | c.139 others(39): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53755685 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG03486.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0276 |
3 | 184 | 0.0163 | -20 | c.127 others(37): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53755726 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 281 | 0.0036 | -20 | c.127 others(37): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53765454 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 124 | 0.0081 | -20 | c.117 others(39): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42500365 | AAAAACAA others(13): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0011 | 1 | 145 | 0.0069 | -20 | c.215 others(39): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 24/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42555085 | GTATCTAT others(13): Show |
G | intron_variant | MODIFIER | HG04184.hp2 NA19064.hp2 NA19077.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0008a0003c0006t0001 | a0001c0001t0001g0058 a0001c0001t0008g0084 a0003c0006t0001g0153 |
3 | 201 | 0.0149 | -20 | c.141 others(37): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42555127 | ATCTATCT others(13): Show |
A | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0271 | 1 | 303 | 0.0033 | -20 | c.141 others(37): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42555134 | TATCTAAT others(13): Show |
T | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 291 | 0.0034 | -20 | c.141 others(37): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42555139 | AATCTATC others(13): Show |
A | intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 169 | 0.0059 | -20 | c.141 others(37): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635776 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0032a0001c0002t0003a0001c0002t0004others(1): Show | a0001c0001t0032g0279 a0001c0002t0003g0188 a0001c0002t0004g0029 others(1): Show |
4 | 303 | 0.0132 | -20 | c.50- others(35): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25507245 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01071.hp1 others(10): Show |
a0001 | a0001c0003a0001c0004a0001c0006others(1): Show | a0001c0003t0007a0001c0004t0002a0001c0004t0003others(9): Show | a0001c0003t0007g0109 a0001c0004t0002g0049 a0001c0004t0002g0080 others(10): Show |
13 | 120 | 0.1083 | -20 | c.222 others(39): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25524886 | ACTTCCTT others(13): Show |
A | intron_variant | MODIFIER | HG02280.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0008a0001c0009t0037 | a0001c0001t0008g0073 a0001c0009t0037g0008 |
2 | 22 | 0.0909 | -20 | c.222 others(37): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25713791 | GAGCTAGC others(13): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01070.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0004a0001c0001t0015a0001c0001t0018others(6): Show | a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0001t0015g0016 others(8): Show |
11 | 120 | 0.0917 | -20 | c.238 others(41): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25829668 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02273.hp1 HG03139.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0015a0001c0001t0030a0001c0002t0071others(3): Show | a0001c0001t0015g0082 a0001c0001t0030g0091 a0001c0002t0071g0096 others(3): Show |
6 | 16 | 0.3750 | -20 | c.275 others(39): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57717547 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG02132.hp2 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0081 a0001c0001t0009g0199 |
2 | 8 | 0.2500 | -20 | c.182 others(39): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57731308 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0011 | a0011c0010 | a0011c0010t0033 | a0011c0010t0033g0080 | 1 | 143 | 0.0070 | -20 | c.181 others(35): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57761112 | TATAAAAT others(13): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0312 | 1 | 77 | 0.0130 | -20 | c.-25 others(39): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1787728 | TAAAAAAA others(13): Show |
T | intron_variant | MODIFIER | NA18949.hp1 | a0003 | a0003c0002 | a0003c0002t0004 | a0003c0002t0004g0001 | 1 | 20 | 0.0500 | -20 | c.307 others(37): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 24/28 | chr19 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1790300 | CCCCCTCC others(13): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG03453.hp1 |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0005a0002c0003t0005 | a0001c0004t0005g0371 a0002c0003t0005g0367 |
2 | 388 | 0.0052 | -20 | c.237 others(37): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 21/28 | chr19 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1795784 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG01070.hp2 HG01975.hp1 others(13): Show |
a0001a0003a0004others(2): Show | a0001c0004a0001c0011a0001c0062others(8): Show | a0001c0004t0003a0001c0011t0001a0001c0062t0002others(9): Show | a0001c0004t0003g0098 a0001c0011t0001g0227 a0001c0062t0002g0111 others(12): Show |
16 | 54 | 0.2963 | -20 | c.205 others(35): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 18/28 | chr19 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1797468 | TTTTATTT others(13): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02451.hp1 others(9): Show |
a0001a0002a0006others(2): Show | a0001c0004a0001c0030a0002c0003others(6): Show | a0001c0004t0003a0001c0030t0002a0002c0003t0005others(6): Show | a0001c0004t0003g0012 a0001c0030t0002g0046 a0002c0003t0005g0260 others(8): Show |
12 | 126 | 0.0952 | -20 | c.155 others(37): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 14/28 | chr19 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 49978739 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG03516.hp1 NA20905.hp2 |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0007a0004c0004t0005 | a0003c0003t0007g0048 a0004c0004t0005g0250 |
2 | 39 | 0.0513 | -20 | c.103 others(37): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 12/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50021118 | TGATAGAT others(13): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02809.hp1 others(1): Show |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0031a0008c0007t0001 | a0001c0001t0031g0242 a0008c0007t0001g0241 a0008c0007t0001g0243 others(1): Show |
4 | 121 | 0.0331 | -20 | c.363 others(39): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 6/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50054790 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02818.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 |
3 | 252 | 0.0119 | -20 | c.88- others(35): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50072966 | CTCTCTCT others(13): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG02809.hp2 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0014a0004c0004t0011 | a0002c0002t0014g0054 a0004c0004t0011g0018 |
2 | 241 | 0.0083 | -20 | c.87+ others(35): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50072968 | CTCTCTCT others(13): Show |
C | intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0123 | 1 | 239 | 0.0042 | -20 | c.87+ others(35): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50072970 | CTCTCTCT others(13): Show |
C | intron_variant | MODIFIER | HG01099.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0081 | 1 | 240 | 0.0042 | -20 | c.87+ others(35): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50098266 | ATTTTTTT others(13): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0092 | 1 | 8 | 0.1250 | -20 | c.28+ others(35): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51638069 | TTTTATAT others(13): Show |
T | intron_variant | MODIFIER | NA18952.hp2 NA19005.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0195 a0001c0001t0003g0012 a0001c0001t0003g0013 |
3 | 137 | 0.0219 | -20 | c.166 others(39): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51638071 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02647.hp1 others(5): Show |
a0001 | a0001c0002a0001c0003a0001c0018 | a0001c0002t0013a0001c0002t0016a0001c0003t0007others(3): Show | a0001c0002t0013g0055 a0001c0002t0016g0049 a0001c0003t0007g0132 others(5): Show |
8 | 172 | 0.0465 | -20 | c.166 others(39): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51642726 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0054 | a0001c0002t0054g0110 | 1 | 222 | 0.0045 | -20 | c.150 others(39): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 14/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51765261 | ATGTTGCT others(13): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0306 | 1 | 310 | 0.0032 | -20 | c.68+ others(35): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79163626 | CTTTCTTG others(13): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01884.hp1 HG02572.hp2 others(1): Show |
a0001 | a0001c0004a0001c0037 | a0001c0004t0003a0001c0037t0003 | a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 others(1): Show |
4 | 296 | 0.0135 | -20 | c.778 others(37): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79256257 | CTATATAT others(13): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG03041.hp1 others(1): Show |
a0001a0002 | a0001c0004a0001c0013a0002c0002 | a0001c0004t0003a0001c0013t0004a0002c0002t0004 | a0001c0004t0003g0113 a0001c0013t0004g0108 a0001c0013t0004g0111 others(1): Show |
4 | 99 | 0.0404 | -20 | c.126 others(39): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115230870 | TGAGAGAG others(13): Show |
T | intron_variant | MODIFIER | HG01258.hp1 HG01515.hp2 HG01943.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0074 a0001c0001t0002g0078 a0001c0001t0002g0080 others(8): Show |
11 | 38 | 0.2895 | -20 | c.153 others(41): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115528053 | CCTTCCTT others(13): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0003 | a0001c0003t0038 | a0001c0003t0038g0122 | 1 | 126 | 0.0079 | -20 | c.371 others(39): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115529487 | TTTATTAA others(13): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG01515.hp2 HG02055.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0074 a0001c0001t0001g0100 a0001c0001t0001g0104 others(8): Show |
11 | 126 | 0.0873 | -20 | c.371 others(41): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115630827 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0032 | 1 | 30 | 0.0333 | -20 | c.379 others(41): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115740835 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG02818.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0007t0030 | a0001c0001t0003g0059 a0001c0007t0030g0008 |
2 | 126 | 0.0159 | -20 | c.390 others(41): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115837466 | CCACACAC others(13): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01952.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0016 | a0001c0002t0001a0001c0002t0005a0001c0002t0006others(2): Show | a0001c0002t0001g0050 a0001c0002t0005g0042 a0001c0002t0006g0060 others(2): Show |
5 | 9 | 0.5556 | -20 | c.390 others(41): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3620219 | AGTTTTGT others(13): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(68): Show |
a0001a0011a0015others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(68): Show |
71 | 131 | 0.5420 | -20 | c.380 others(39): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 24/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77626028 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01496.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0003t0001 | a0001c0001t0001g0159 a0001c0001t0009g0001 a0001c0003t0001g0103 others(2): Show |
5 | 26 | 0.1923 | -20 | c.513 others(39): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 19/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77716126 | TTTTTTTT others(13): Show |
T | intron_variant | MODIFIER | NA18992.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0037 | 1 | 216 | 0.0046 | -20 | c.133 others(36): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77735598 | CTAAATAA others(13): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0218 | 1 | 103 | 0.0097 | -20 | c.21- others(37): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77757082 | GACCTATA others(13): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02451.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0005g0068 a0001c0001t0005g0072 a0001c0001t0005g0073 others(16): Show |
19 | 216 | 0.0880 | -20 | c.20+ others(37): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142496278 | CTATATAT others(13): Show |
C | intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0292 | 1 | 22 | 0.0455 | -20 | c.589 others(35): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | |||||||
ATXN10_chr22_45666834_45850307 | 45753377 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00544.hp1 others(101): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0082 a0001c0001t0001g0088 others(100): Show |
104 | 108 | 0.9630 | -20 | c.117 others(41): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |