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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AHI1_chr6_135278532_135502740 | 135429884 | C | T | splice_region_variant others(1): Show |
LOW | HG03225.hp1 | a0001 | a0001c0015 | a0001c0015t0010 | a0001c0015t0010g0104 | 1 | 218 | 0.0046 | 0 | c.249 others(4): Show |
p.Arg others(6): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 18/29 | 2849/6063 | 2490/3591 | 830/1196 | chr6 | TogoVar | |||
AHSA1_chr14_77453093_77474472 | 77465674 | A | C | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00544.hp1 HG00544.hp2 others(129): Show |
a0001 | a0001c0001a0001c0008a0001c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(42): Show |
132 | 306 | 0.4314 | 0 | c.690 others(5): Show |
AHSA1 | ENSG00000100591.8 | transcript | ENST00000216479.8 | protein_coding | 6/8 | chr14 | TogoVar | |||||||
AHSA1_chr14_77453093_77474472 | 77468051 | C | CT | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(58): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(3): Show | a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0026 others(38): Show |
61 | 148 | 0.4122 | 1 | c.691 others(6): Show |
AHSA1 | ENSG00000100591.8 | transcript | ENST00000216479.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AHSA1_chr14_77453093_77474472 | 77468051 | C | CTT | splice_region_variant others(1): Show |
LOW | HG01099.hp2 HG01109.hp2 HG01891.hp1 others(5): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001a0001c0003t0003 | a0001c0002t0002g0029 a0001c0002t0002g0107 a0001c0002t0002g0113 others(5): Show |
8 | 95 | 0.0842 | 2 | c.691 others(14): Show |
AHSA1 | ENSG00000100591.8 | transcript | ENST00000216479.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AICDA_chr12_8597170_8617859 | 8604926 | C | CA | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(388): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(182): Show |
391 | 443 | 0.8826 | 1 | c.428 others(6): Show |
AICDA | ENSG00000111732.12 | transcript | ENST00000229335.11 | protein_coding | 3/4 | chr12 | TogoVar | |||||||
AICDA_chr12_8597170_8617859 | 8604926 | C | CAA | splice_region_variant others(1): Show |
LOW | HG01168.hp2 HG01978.hp1 HG01978.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0028a0001c0002t0001others(2): Show | a0001c0001t0001g0183 a0001c0001t0028g0211 a0001c0002t0001g0048 others(6): Show |
11 | 63 | 0.1746 | 2 | c.428 others(13): Show |
AICDA | ENSG00000111732.12 | transcript | ENST00000229335.11 | protein_coding | 3/4 | chr12 | TogoVar | |||||||
AICDA_chr12_8597170_8617859 | 8605211 | G | A | splice_region_variant others(1): Show |
LOW | HG02055.hp2 HG02615.hp2 |
a0002a0004 | a0002c0010a0004c0011 | a0002c0010t0003a0004c0011t0003 | a0002c0010t0003g0135 a0004c0011t0003g0137 |
2 | 456 | 0.0044 | 0 | c.427 others(5): Show |
AICDA | ENSG00000111732.12 | transcript | ENST00000229335.11 | protein_coding | 3/4 | chr12 | TogoVar | |||||||
AIF1L_chr9_131091531_131128144 | 131117748 | C | G | splice_region_variant others(1): Show |
LOW | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0134 | 1 | 422 | 0.0024 | 0 | c.203 others(5): Show |
AIF1L | ENSG00000126878.13 | transcript | ENST00000247291.8 | protein_coding | 4/5 | chr9 | TogoVar | |||||||
AIFM3_chr22_20962255_20986358 | 20973300 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(137): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0012others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(63): Show |
140 | 454 | 0.3084 | 0 | c.32- others(4): Show |
AIFM3 | ENSG00000183773.16 | transcript | ENST00000440238.4 | protein_coding | 2/20 | chr22 | TogoVar | |||||||
AIG1_chr6_143055889_143346058 | 143165074 | C | T | splice_region_variant others(1): Show |
LOW | HG01257.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0128 a0001c0001t0002g0133 |
2 | 202 | 0.0099 | 0 | c.298 others(5): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | chr6 | TogoVar | |||||||
AIM2_chr1_159057484_159081766 | 159068562 | T | A | splice_region_variant others(1): Show |
LOW | HG03225.hp2 HG03453.hp2 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0147 a0001c0004t0003g0149 |
2 | 392 | 0.0051 | 0 | c.396 others(5): Show |
AIM2 | ENSG00000163568.16 | transcript | ENST00000368130.9 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
AIMP1_chr4_106311550_106354456 | 106324979 | C | A | splice_region_variant others(1): Show |
LOW | HG00558.hp2 HG00735.hp1 HG00738.hp2 others(100): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0179 others(62): Show |
103 | 382 | 0.2696 | 0 | c.-25 others(5): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
AIMP2_chr7_6004272_6028834 | 6015356 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00423.hp2 HG00621.hp1 others(91): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0002g0007 others(78): Show |
94 | 440 | 0.2136 | 0 | c.342 others(5): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
AIMP2_chr7_6004272_6028834 | 6023833 | T | G | splice_region_variant | LOW | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0042 | 1 | 440 | 0.0023 | 0 | c.*14 others(4): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 4/4 | chr7 | TogoVar | |||||||
AIRE_chr21_44280876_44303648 | 44288340 | C | T | splice_region_variant others(1): Show |
LOW | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 424 | 0.0024 | 0 | c.539 others(5): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 4/13 | chr21 | TogoVar | |||||||
AIRE_chr21_44280876_44303648 | 44292407 | G | A | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(78): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0002c0007others(11): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(14): Show | a0001c0001t0001g0018 a0001c0001t0001g0109 a0001c0001t0001g0148 others(44): Show |
81 | 424 | 0.1910 | 0 | c.109 others(6): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 9/13 | chr21 | TogoVar | |||||||
AJAP1_chr1_4649609_4797534 | 4711892 | C | G | splice_region_variant others(1): Show |
LOW | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0292 | 1 | 332 | 0.0030 | 0 | c.30- others(4): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
AK4_chr1_65143203_65237145 | 65148560 | G | C | splice_region_variant others(1): Show |
LOW | HG02615.hp2 HG03195.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0015a0001c0001t0057 | a0001c0001t0009g0009 a0001c0001t0015g0007 a0001c0001t0057g0008 |
3 | 298 | 0.0101 | 0 | c.145 others(5): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
AK4_chr1_65143203_65237145 | 65224748 | G | T | splice_region_variant others(1): Show |
LOW | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 298 | 0.0034 | 0 | c.439 others(5): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 3/4 | chr1 | TogoVar | |||||||
AK4_chr1_65143203_65237145 | 65224873 | G | A | splice_region_variant others(1): Show |
LOW | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 298 | 0.0034 | 0 | c.557 others(5): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
AK5_chr1_77277019_77564966 | 77286937 | T | C | splice_region_variant others(1): Show |
LOW | HG00735.hp1 HG02280.hp1 HG02622.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0007a0002c0002t0002others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 others(8): Show |
11 | 282 | 0.0390 | 0 | c.61- others(4): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
AK5_chr1_77277019_77564966 | 77558599 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(190): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(190): Show |
193 | 282 | 0.6844 | 0 | c.162 others(6): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 13/13 | chr1 | TogoVar | |||||||
AK6_chr5_69345984_69374520 | 69355641 | T | A | splice_region_variant others(1): Show |
LOW | HG00438.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 a0001c0001t0001g0129 |
2 | 420 | 0.0048 | 0 | c.326 others(5): Show |
AK6 | ENSG00000085231.14 | transcript | ENST00000380822.9 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
AK7_chr14_96387128_96494427 | 96420814 | T | C | splice_region_variant others(1): Show |
LOW | HG02451.hp2 | a0009 | a0009c0011 | a0009c0011t0002 | a0009c0011t0002g0007 | 1 | 314 | 0.0032 | 0 | c.499 others(5): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 4/17 | chr14 | TogoVar | |||||||
AK7_chr14_96387128_96494427 | 96471471 | T | C | splice_region_variant others(1): Show |
LOW | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 314 | 0.0032 | 0 | c.135 others(6): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 12/17 | chr14 | TogoVar | |||||||
AK8_chr9_132720578_132883284 | 132792779 | C | A | splice_region_variant others(1): Show |
LOW | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 264 | 0.0038 | 0 | c.980 others(5): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 10/12 | chr9 | TogoVar | |||||||
AK8_chr9_132720578_132883284 | 132828088 | G | A | splice_region_variant others(1): Show |
LOW | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 264 | 0.0038 | 0 | c.485 others(5): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 6/12 | chr9 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109514443 | AC | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(85): Show |
a0003a0007a0012others(1): Show | a0003c0001a0003c0016a0003c0025others(5): Show | a0003c0001t0001a0003c0001t0002a0003c0016t0002others(6): Show | a0003c0001t0001g0289 a0003c0001t0001g0290 a0003c0001t0002g0002 others(83): Show |
88 | 376 | 0.2340 | -1 | c.406 others(7): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 31/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109573596 | T | TA | splice_region_variant others(1): Show |
LOW | HG02809.hp2 HG03130.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0171 others(1): Show |
4 | 376 | 0.0106 | 1 | c.219 others(7): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 20/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109610517 | A | G | splice_region_variant others(1): Show |
LOW | HG02809.hp2 HG03130.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0171 others(1): Show |
4 | 376 | 0.0106 | 0 | c.169 others(6): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 16/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109619086 | T | C | splice_region_variant others(1): Show |
LOW | HG02280.hp1 HG02559.hp1 HG03453.hp2 others(2): Show |
a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0083 a0005c0009t0001g0084 a0005c0009t0001g0085 others(2): Show |
5 | 376 | 0.0133 | 0 | c.139 others(6): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 13/40 | chr6 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19931799 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00438.hp1 HG01070.hp1 others(37): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0007a0001c0001t0014others(2): Show | a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 others(37): Show |
40 | 276 | 0.1449 | 0 | c.164 others(6): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 10/14 | chr17 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19968465 | G | C | splice_region_variant others(1): Show |
LOW | HG03579.hp2 | a0001 | a0001c0006 | a0001c0006t0022 | a0001c0006t0022g0055 | 1 | 276 | 0.0036 | 0 | c.89- others(4): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
AKAP11_chr13_42267152_42328261 | 42286038 | A | G | splice_region_variant others(1): Show |
LOW | HG03098.hp2 | a0005 | a0005c0007 | a0005c0007t0034 | a0005c0007t0034g0142 | 1 | 376 | 0.0027 | 0 | c.-50 others(5): Show |
AKAP11 | ENSG00000023516.9 | transcript | ENST00000025301.4 | protein_coding | 2/12 | chr13 | TogoVar | |||||||
AKAP12_chr6_151234967_151363559 | 151305910 | C | T | splice_region_variant others(1): Show |
LOW | HG01516.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0069 | 1 | 314 | 0.0032 | 0 | c.319 others(5): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
AKAP12_chr6_151234967_151363559 | 151353752 | G | A | splice_region_variant | LOW | NA21309.hp2 | a0004 | a0004c0006 | a0004c0006t0027 | a0004c0006t0027g0117 | 1 | 314 | 0.0032 | 0 | c.*12 others(3): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 4/5 | chr6 | TogoVar | |||||||
AKAP12_chr6_151234967_151363559 | 151358559 | A | G | splice_region_variant | LOW | NA21309.hp2 | a0004 | a0004c0006 | a0004c0006t0027 | a0004c0006t0027g0117 | 1 | 314 | 0.0032 | 0 | c.*28 others(5): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 5/5 | chr6 | TogoVar | |||||||
AKAP13_chr15_85375603_85754355 | 85730514 | A | C | missense_variant others(1): Show |
MODERATE | HG03704.hp2 | a0030 | a0030c0058 | a0030c0058t0006 | a0030c0058t0006g0010 | 1 | 312 | 0.0032 | 0 | c.708 others(4): Show |
p.Glu others(7): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 30/37 | 7296/13327 | 7089/8442 | 2363/2813 | chr15 | TogoVar | |||
AKAP14_chrX_119890893_119925716 | 119896266 | C | T | splice_region_variant | LOW | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0205 | 1 | 302 | 0.0033 | 0 | c.-12 others(3): Show |
AKAP14 | ENSG00000186471.13 | transcript | ENST00000371431.8 | protein_coding | 2/7 | chrX | TogoVar | |||||||
AKAP14_chrX_119890893_119925716 | 119914877 | C | T | missense_variant others(1): Show |
MODERATE | HG00639.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0259 | 1 | 302 | 0.0033 | 0 | c.440 others(3): Show |
p.Pro others(6): Show |
AKAP14 | ENSG00000186471.13 | transcript | ENST00000371431.8 | protein_coding | 5/7 | 658/921 | 440/594 | 147/197 | chrX | TogoVar | |||
AKAP14_chrX_119890893_119925716 | 119919904 | T | G | splice_region_variant others(1): Show |
LOW | HG01928.hp1 HG01978.hp2 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0120 a0001c0001t0001g0176 |
3 | 302 | 0.0099 | 0 | c.442 others(5): Show |
AKAP14 | ENSG00000186471.13 | transcript | ENST00000371431.8 | protein_coding | 5/6 | chrX | TogoVar | |||||||
AKAP17A_chrX_1586604_1607520 | 1600655 | G | T | splice_region_variant others(1): Show |
LOW | HG01069.hp1 HG01884.hp2 HG02630.hp1 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0003a0002c0003t0003a0002c0003t0009 | a0002c0002t0003g0058 a0002c0003t0003g0103 a0002c0003t0009g0102 |
3 | 149 | 0.0201 | 0 | c.115 others(6): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 4/4 | chrX | TogoVar | |||||||
AKAP1_chr17_57080246_57126344 | 57112485 | A | G | splice_region_variant others(1): Show |
LOW | HG02280.hp1 | a0003 | a0003c0008 | a0003c0008t0007 | a0003c0008t0007g0051 | 1 | 394 | 0.0025 | 0 | c.197 others(6): Show |
AKAP1 | ENSG00000121057.13 | transcript | ENST00000337714.8 | protein_coding | 4/10 | chr17 | TogoVar | |||||||
AKAP1_chr17_57080246_57126344 | 57112625 | G | C | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG01167.hp1 HG01169.hp1 others(2): Show |
a0001 | a0001c0006 | a0001c0006t0012 | a0001c0006t0012g0024 a0001c0006t0012g0199 a0001c0006t0012g0200 others(1): Show |
5 | 394 | 0.0127 | 0 | c.210 others(6): Show |
AKAP1 | ENSG00000121057.13 | transcript | ENST00000337714.8 | protein_coding | 5/10 | chr17 | TogoVar | |||||||
AKAP4_chrX_50185777_50206007 | 50197540 | G | A | splice_region_variant others(1): Show |
LOW | HG03453.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0037 | 1 | 285 | 0.0035 | 0 | c.174 others(5): Show |
AKAP4 | ENSG00000147081.15 | transcript | ENST00000358526.7 | protein_coding | 3/5 | chrX | TogoVar | |||||||
AKAP6_chr14_32324298_32842684 | 32599402 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG01175.hp1 HG01346.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0019others(5): Show | a0001c0001t0008a0001c0006t0007a0001c0019t0001others(6): Show | a0001c0001t0008g0129 a0001c0006t0007g0099 a0001c0019t0001g0002 others(6): Show |
9 | 152 | 0.0592 | 0 | c.247 others(6): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 5/13 | chr14 | TogoVar | |||||||
AKAP8_chr19_15348385_15384787 | 15368227 | C | T | splice_region_variant others(1): Show |
LOW | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0033 | 1 | 284 | 0.0035 | 0 | c.116 others(6): Show |
AKAP8 | ENSG00000105127.10 | transcript | ENST00000269701.7 | protein_coding | 9/13 | chr19 | TogoVar | |||||||
AKAP8_chr19_15348385_15384787 | 15370139 | T | G | splice_region_variant others(1): Show |
LOW | HG00544.hp1 HG02155.hp1 HG02523.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0043 a0001c0001t0002g0032 a0001c0001t0002g0044 others(1): Show |
4 | 284 | 0.0141 | 0 | c.107 others(6): Show |
AKAP8 | ENSG00000105127.10 | transcript | ENST00000269701.7 | protein_coding | 8/13 | chr19 | TogoVar | |||||||
AKAP9_chr7_91935862_92115673 | 92070022 | T | C | splice_region_variant others(1): Show |
LOW | HG03453.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0296 | 1 | 304 | 0.0033 | 0 | c.633 others(6): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 26/49 | chr7 | TogoVar | |||||||
AKAP9_chr7_91935862_92115673 | 92077883 | C | T | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00639.hp2 HG00642.hp1 others(94): Show |
a0001a0002a0003others(2): Show | a0001c0023a0002c0002a0002c0003others(10): Show | a0001c0023t0001a0002c0002t0002a0002c0002t0003others(11): Show | a0001c0023t0001g0131 a0002c0002t0002g0213 a0002c0002t0002g0214 others(94): Show |
97 | 304 | 0.3191 | 0 | c.694 others(6): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 30/49 | chr7 | TogoVar |