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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS7_chr15_78754206_78816464 | 78774616 | G | A | splice_region_variant others(1): Show |
LOW | HG02559.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0054 | 1 | 378 | 0.0026 | 0 | c.187 others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 12/23 | chr15 | TogoVar | |||||||
ADAMTS7_chr15_78754206_78816464 | 78774796 | G | A | splice_region_variant others(1): Show |
LOW | NA18990.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0294 | 1 | 378 | 0.0026 | 0 | c.170 others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 11/23 | chr15 | TogoVar | |||||||
ADAMTS7_chr15_78754206_78816464 | 78776190 | A | G | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG02922.hp1 NA19240.hp2 |
a0004a0007 | a0004c0050a0007c0049a0007c0081 | a0004c0050t0001a0007c0049t0001a0007c0081t0001 | a0004c0050t0001g0229 a0007c0049t0001g0228 a0007c0081t0001g0315 |
3 | 378 | 0.0079 | 0 | c.170 others(4): Show |
p.Pro others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 11/24 | 1948/5520 | 1704/5061 | 568/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78776845 | C | T | splice_region_variant others(1): Show |
LOW | HG00741.hp2 HG01261.hp2 HG01496.hp1 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0013 a0003c0003t0003g0014 a0003c0003t0003g0016 others(3): Show |
9 | 378 | 0.0238 | 0 | c.146 others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 9/23 | chr15 | TogoVar | |||||||
ADAMTS7_chr15_78754206_78816464 | 78776846 | G | A | splice_region_variant others(1): Show |
LOW | NA18906.hp1 NA20129.hp2 |
a0033 | a0033c0046 | a0033c0046t0001 | a0033c0046t0001g0153 a0033c0046t0001g0161 |
2 | 378 | 0.0053 | 0 | c.146 others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 9/23 | chr15 | TogoVar | |||||||
ADAMTS7_chr15_78754206_78816464 | 78789690 | T | G | missense_variant others(1): Show |
MODERATE | NA19077.hp2 | a0072 | a0072c0063 | a0072c0063t0001 | a0072c0063t0001g0213 | 1 | 378 | 0.0026 | 0 | c.117 others(4): Show |
p.Ser others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 7/24 | 1421/5520 | 1177/5061 | 393/1686 | chr15 | TogoVar | |||
ADAMTS8_chr11_130399923_130433609 | 130408646 | C | T | splice_region_variant others(1): Show |
LOW | HG02451.hp2 | a0005 | a0005c0016 | a0005c0016t0006 | a0005c0016t0006g0080 | 1 | 422 | 0.0024 | 0 | c.192 others(6): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 7/8 | chr11 | TogoVar | |||||||
ADAMTS8_chr11_130399923_130433609 | 130411412 | A | G | splice_region_variant others(1): Show |
LOW | HG00642.hp1 | a0002 | a0002c0042 | a0002c0042t0003 | a0002c0042t0003g0246 | 1 | 422 | 0.0024 | 0 | c.175 others(6): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 6/8 | chr11 | TogoVar | |||||||
ADAMTS8_chr11_130399923_130433609 | 130416932 | A | T | splice_region_variant others(1): Show |
LOW | NA18957.hp2 NA19011.hp2 |
a0002a0020 | a0002c0004a0020c0044 | a0002c0004t0003a0020c0044t0003 | a0002c0004t0003g0206 a0020c0044t0003g0187 |
2 | 422 | 0.0047 | 0 | c.109 others(6): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 3/8 | chr11 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64539299 | G | A | splice_region_variant others(1): Show |
LOW | HG02273.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0149 | 1 | 284 | 0.0035 | 0 | c.552 others(6): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 36/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64551066 | T | A | splice_region_variant others(1): Show |
LOW | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 284 | 0.0035 | 0 | c.469 others(6): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 30/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64613337 | C | A | splice_region_variant others(1): Show |
LOW | HG02486.hp1 HG02622.hp2 HG02922.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0236 a0001c0004t0001g0238 a0001c0004t0001g0239 others(2): Show |
5 | 284 | 0.0176 | 0 | c.335 others(6): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 22/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64649783 | G | A | splice_region_variant others(1): Show |
LOW | HG02071.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0153 | 1 | 284 | 0.0035 | 0 | c.146 others(6): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 9/39 | chr3 | TogoVar | |||||||
ADAMTSL2_chr9_133529704_133580519 | 133536800 | A | G | missense_variant others(1): Show |
MODERATE | HG02647.hp2 HG02723.hp2 |
a0004 | a0004c0036a0004c0037 | a0004c0036t0001a0004c0037t0001 | a0004c0036t0001g0113 a0004c0037t0001g0114 |
2 | 150 | 0.0133 | 0 | c.88A others(2): Show |
p.Thr others(5): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 2/19 | 452/3875 | 88/2856 | 30/951 | chr9 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 83773520 | T | C | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00423.hp2 HG00438.hp1 others(31): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(31): Show |
34 | 272 | 0.1250 | 0 | c.190 others(5): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3/29 | chr15 | TogoVar | |||||||
ADAMTSL3_chr15_83649123_84044842 | 83924031 | C | T | splice_region_variant others(1): Show |
LOW | HG03579.hp2 | a0013 | a0013c0035 | a0013c0035t0001 | a0013c0035t0001g0175 | 1 | 272 | 0.0037 | 0 | c.211 others(4): Show |
p.Pro others(6): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 17/30 | 2302/7299 | 2115/5076 | 705/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 84016366 | C | CT | splice_region_variant others(1): Show |
LOW | HG02109.hp2 HG02257.hp1 HG02258.hp1 others(10): Show |
a0007a0033a0037 | a0007c0007a0007c0025a0007c0064others(2): Show | a0007c0007t0001a0007c0007t0013a0007c0025t0014others(3): Show | a0007c0007t0001g0001 a0007c0007t0001g0059 a0007c0007t0001g0060 others(10): Show |
13 | 270 | 0.0481 | 1 | c.415 others(7): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 84036991 | C | G | splice_region_variant others(1): Show |
LOW | HG02970.hp2 | a0035 | a0035c0065 | a0035c0065t0008 | a0035c0065t0008g0036 | 1 | 272 | 0.0037 | 0 | c.496 others(6): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 29/29 | chr15 | TogoVar | |||||||
ADAMTSL5_chr19_1500022_1518019 | 1507403 | G | T | missense_variant others(1): Show |
MODERATE | HG01109.hp1 | a0004 | a0004c0016 | a0004c0016t0005 | a0004c0016t0005g0144 | 1 | 350 | 0.0029 | 0 | c.691 others(3): Show |
p.Leu others(6): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 9/12 | 965/2683 | 691/1416 | 231/471 | chr19 | TogoVar | |||
ADAMTSL5_chr19_1500022_1518019 | 1510639 | C | T | missense_variant others(1): Show |
MODERATE | HG02630.hp1 | a0007 | a0007c0009 | a0007c0009t0036 | a0007c0009t0036g0205 | 1 | 350 | 0.0029 | 0 | c.191 others(3): Show |
p.Arg others(5): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 3/12 | 465/2683 | 191/1416 | 64/471 | chr19 | TogoVar | |||
ADAMTSL5_chr19_1500022_1518019 | 1512964 | G | A | splice_region_variant | LOW | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(23): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0006a0001c0001t0009a0001c0001t0015others(7): Show | a0001c0001t0006g0009 a0001c0001t0006g0041 a0001c0001t0006g0207 others(14): Show |
26 | 350 | 0.0743 | 0 | c.-21 others(4): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 1/12 | chr19 | TogoVar | |||||||
ADAP1_chr7_892900_959680 | 900620 | G | GGGGCAAA others(3): Show |
splice_region_variant others(1): Show |
LOW | HG01346.hp2 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 |
2 | 12 | 0.1667 | 10 | c.649 others(21): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 6/10 | chr7 | TogoVar | |||||||
ADAP1_chr7_892900_959680 | 900621 | G | GGGCAAAG others(3): Show |
splice_region_variant others(1): Show |
LOW | HG01346.hp1 HG01993.hp1 HG01993.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(5): Show |
8 | 12 | 0.6667 | 10 | c.649 others(21): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 6/10 | chr7 | TogoVar | |||||||
ADAP1_chr7_892900_959680 | 920055 | G | A | splice_region_variant others(1): Show |
LOW | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 12 | 0.0833 | 0 | c.306 others(5): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 3/10 | chr7 | TogoVar | |||||||
ADAP2_chr17_30916945_30964322 | 30949282 | C | T | splice_region_variant others(1): Show |
LOW | HG02257.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0174 a0001c0001t0010g0238 |
2 | 280 | 0.0071 | 0 | c.658 others(5): Show |
ADAP2 | ENSG00000184060.11 | transcript | ENST00000330889.8 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1183377 | C | T | splice_region_variant others(1): Show |
LOW | HG02683.hp2 | a0002 | a0002c0002 | a0002c0002t0042 | a0002c0002t0042g0061 | 1 | 106 | 0.0094 | 0 | c.204 others(6): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 9/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1185046 | G | A | splice_region_variant others(1): Show |
LOW | NA20805.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0067 | 1 | 106 | 0.0094 | 0 | c.186 others(6): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 8/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1242125 | G | A | splice_region_variant others(1): Show |
LOW | HG02602.hp2 HG02683.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0004 | a0001c0001t0009g0055 a0002c0002t0004g0101 |
2 | 106 | 0.0189 | 0 | c.136 others(6): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADAR_chr1_154577057_154613186 | 154585209 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(163): Show |
a0001a0007a0009 | a0001c0001a0001c0014a0001c0015others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(11): Show | a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0019 others(84): Show |
166 | 414 | 0.4010 | 0 | c.344 others(6): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 14/14 | chr1 | TogoVar | |||||||
ADAR_chr1_154577057_154613186 | 154598397 | C | T | splice_region_variant others(1): Show |
LOW | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 | 1 | 414 | 0.0024 | 0 | c.178 others(6): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75608217 | G | A | splice_region_variant others(1): Show |
LOW | HG01884.hp2 | a0004 | a0004c0005 | a0004c0005t0050 | a0004c0005t0050g0105 | 1 | 346 | 0.0029 | 0 | c.128 others(6): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 8/9 | chr16 | TogoVar | |||||||
ADAT2_chr6_143417832_143455695 | 143433985 | A | T | splice_region_variant others(1): Show |
LOW | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0162 | 1 | 320 | 0.0031 | 0 | c.202 others(5): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 2/5 | chr6 | TogoVar | |||||||
ADAT3_chr19_1900399_1918447 | 1905447 | C | G | splice_region_variant others(1): Show |
LOW | HG01978.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0149 | 1 | 440 | 0.0023 | 0 | c.-15 others(6): Show |
ADAT3 | ENSG00000213638.6 | transcript | ENST00000329478.4 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
ADA_chr20_44614522_44656699 | 44636286 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(315): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(255): Show |
318 | 326 | 0.9755 | 0 | c.36G others(2): Show |
p.Val others(5): Show |
ADA | ENSG00000196839.14 | transcript | ENST00000372874.9 | protein_coding | 2/12 | 128/1496 | 36/1092 | 12/363 | chr20 | TogoVar | |||
ADCK1_chr14_77795109_77940014 | 77859285 | C | T | splice_region_variant others(1): Show |
LOW | NA18951.hp1 NA18960.hp1 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0097 |
3 | 284 | 0.0106 | 0 | c.423 others(5): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 4/10 | chr14 | TogoVar | |||||||
ADCK2_chr7_140667945_140700110 | 140674611 | G | A | missense_variant others(1): Show |
MODERATE | NA20129.hp1 | a0014 | a0014c0012 | a0014c0012t0001 | a0014c0012t0001g0048 | 1 | 288 | 0.0035 | 0 | c.934 others(3): Show |
p.Val others(6): Show |
ADCK2 | ENSG00000133597.11 | transcript | ENST00000072869.9 | protein_coding | 2/8 | 1320/2574 | 934/1881 | 312/626 | chr7 | TogoVar | |||
ADCK5_chr8_144369047_144398242 | 144392334 | T | TGGGGGTG others(8): Show |
splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(122): Show |
a0002a0004a0010 | a0002c0002a0002c0009a0004c0005others(1): Show | a0002c0002t0001a0002c0002t0007a0002c0009t0001others(2): Show | a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0005 others(70): Show |
125 | 343 | 0.3644 | 15 | c.126 others(26): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144392334 | T | TGGGGGTG others(9): Show |
splice_region_variant others(1): Show |
LOW | HG01255.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0055 | 1 | 219 | 0.0046 | 16 | c.125 others(27): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144392353 | C | G | splice_region_variant others(1): Show |
LOW | NA20905.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0122 | 1 | 344 | 0.0029 | 0 | c.126 others(6): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 12/14 | chr8 | TogoVar | |||||||
ADCK5_chr8_144369047_144398242 | 144392414 | C | CCCCT | splice_region_variant others(1): Show |
LOW | HG01192.hp1 HG01981.hp2 HG02145.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0194 a0001c0001t0002g0160 a0001c0001t0002g0173 others(4): Show |
10 | 312 | 0.0321 | 4 | c.126 others(17): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144392414 | C | CCCCTCCC others(5): Show |
splice_region_variant others(1): Show |
LOW | HG02300.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0070 a0001c0001t0002g0135 |
2 | 304 | 0.0066 | 12 | c.126 others(26): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144392414 | CCCCT | C | splice_region_variant others(1): Show |
LOW | HG00438.hp2 HG01175.hp1 HG01361.hp2 others(22): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0024 a0001c0001t0001g0053 a0001c0001t0001g0063 others(16): Show |
25 | 327 | 0.0765 | -4 | c.126 others(17): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144392695 | A | G | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00741.hp2 HG01070.hp1 others(47): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0006 | a0001c0003t0001g0007 a0001c0003t0001g0009 a0001c0003t0001g0010 others(25): Show |
50 | 344 | 0.1453 | 0 | c.151 others(4): Show |
p.Lys others(6): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 13/15 | 1567/1960 | 1518/1743 | 506/580 | chr8 | TogoVar | |||
ADCY10_chr1_167804386_167919134 | 167818069 | C | T | splice_region_variant others(1): Show |
LOW | HG02717.hp1 HG02895.hp2 HG03041.hp2 |
a0001a0004a0012 | a0001c0004a0004c0011a0012c0034 | a0001c0004t0001a0004c0011t0002a0012c0034t0002 | a0001c0004t0001g0181 a0004c0011t0002g0288 a0012c0034t0002g0197 |
3 | 324 | 0.0093 | 0 | c.448 others(6): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 31/32 | chr1 | TogoVar | |||||||
ADCY10_chr1_167804386_167919134 | 167829259 | T | A | splice_region_variant others(1): Show |
LOW | HG00735.hp1 | a0008 | a0008c0036 | a0008c0036t0001 | a0008c0036t0001g0168 | 1 | 323 | 0.0031 | 0 | c.375 others(6): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 26/32 | chr1 | TogoVar | |||||||
ADCY10_chr1_167804386_167919134 | 167902059 | G | GA | splice_region_variant others(1): Show |
LOW | HG01109.hp2 HG02486.hp1 HG02559.hp1 others(8): Show |
a0001a0002a0004others(2): Show | a0001c0004a0001c0038a0002c0001others(5): Show | a0001c0004t0003a0001c0038t0001a0002c0001t0002others(6): Show | a0001c0004t0003g0286 a0001c0038t0001g0284 a0002c0001t0002g0315 others(8): Show |
11 | 274 | 0.0401 | 1 | c.254 others(6): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 3/32 | chr1 | TogoVar | |||||||
ADCY10_chr1_167804386_167919134 | 167902059 | GA | G | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00642.hp2 HG01070.hp2 others(47): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0001c0004others(17): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(24): Show | a0001c0002t0001g0003 a0001c0002t0001g0115 a0001c0002t0001g0205 others(45): Show |
50 | 313 | 0.1597 | -1 | c.254 others(6): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 3/32 | chr1 | TogoVar | |||||||
ADCY1_chr7_45569368_45728116 | 45648665 | T | C | splice_region_variant others(1): Show |
LOW | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0131 | 1 | 276 | 0.0036 | 0 | c.102 others(6): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 4/19 | chr7 | TogoVar | |||||||
ADCY1_chr7_45569368_45728116 | 45660191 | C | T | splice_region_variant others(1): Show |
LOW | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0065 | 1 | 276 | 0.0036 | 0 | c.144 others(6): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 7/19 | chr7 | TogoVar | |||||||
ADCY1_chr7_45569368_45728116 | 45662054 | G | T | splice_region_variant others(1): Show |
LOW | HG01106.hp1 HG01109.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0027 | a0001c0001t0001g0031 a0001c0002t0027g0006 |
2 | 276 | 0.0072 | 0 | c.145 others(6): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 7/19 | chr7 | TogoVar |