regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM19_chr5_157472304_157580775 | 157556209 | CTTTTTTT | C | intron_variant | MODIFIER | HG01943.hp1 HG01981.hp1 HG02109.hp2 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0019a0002c0002a0004c0004others(1): Show | a0001c0019t0017a0002c0002t0002a0002c0002t0004others(6): Show | a0001c0019t0017g0240a0002c0002t0002g0242a0002c0002t0004g0238others(7): Show | 10 | 310 | 0.0323 | -7 | c.251 others(24): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 3/22 | chr5 | TogoVar | ||||||
ADAM19_chr5_157472304_157580775 | 157576239 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00735.hp2 HG02602.hp1 HG03927.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0002c0002t0002others(2): Show | a0001c0001t0001g0071a0001c0001t0001g0087a0001c0001t0009g0045others(5): Show | 8 | 310 | 0.0258 | -7 | c.-55 others(16): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 465 | chr5 | TogoVar | ||||||
ADAM23_chr2_206438532_206626127 | 206563727 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(245): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(35): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(239): Show | 248 | 358 | 0.6927 | -7 | c.134 others(26): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADAM28_chr8_24289069_24364014 | 24291016 | TTTTTTTC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00558.hp2 others(45): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0034a0002c0003others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(12): Show | a0001c0002t0001g0281a0001c0002t0001g0283a0001c0002t0001g0285others(44): Show | 48 | 348 | 0.1379 | -7 | c.-31 others(18): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 3052 | chr8 | TogoVar | ||||||
ADAM2_chr8_39738735_39843227 | 39836204 | CATTTTTT | C | intron_variant | MODIFIER | NA19007.hp1 NA19058.hp2 NA19063.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0301 | 5 | 329 | 0.0152 | -7 | c.132 others(22): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 2/20 | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39160539 | CAAAAAAA | C | intron_variant | MODIFIER | HG02559.hp1 HG02723.hp2 HG02895.hp2 others(2): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0003a0006c0008others(1): Show | a0001c0001t0001a0002c0003t0001a0006c0008t0002others(1): Show | a0001c0001t0001g0007a0002c0003t0001g0150a0002c0003t0001g0156others(2): Show | 5 | 257 | 0.0195 | -7 | c.526 others(22): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAMTS12_chr5_33518535_33896990 | 33635081 | TAGTTTTA | T | intron_variant | MODIFIER | HG02809.hp1 NA18906.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0009a0003c0005t0010 | a0001c0001t0009g0199a0003c0005t0010g0193 | 2 | 224 | 0.0089 | -7 | c.188 others(26): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33771713 | ATATATTG | A | intron_variant | MODIFIER | HG00408.hp1 HG01361.hp2 HG01884.hp2 others(26): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0036others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0062others(26): Show | 29 | 224 | 0.1295 | -7 | c.490 others(26): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33777703 | GAGGCATC | G | intron_variant | MODIFIER | HG00438.hp1 HG02523.hp2 NA18988.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0002 | a0001c0001t0001g0009a0001c0001t0001g0014a0002c0004t0002g0037 | 3 | 224 | 0.0134 | -7 | c.490 others(26): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33857434 | AGAAAATG | A | intron_variant | MODIFIER | HG02280.hp1 NA20129.hp2 |
a0001a0004 | a0001c0050a0004c0049 | a0001c0050t0005a0004c0049t0014 | a0001c0050t0005g0202a0004c0049t0014g0190 | 2 | 224 | 0.0089 | -7 | c.489 others(26): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70684840 | GCCTGGGT | G | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00597.hp2 others(35): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0004a0001c0007others(19): Show | a0001c0002t0018a0001c0002t0020a0001c0002t0041others(25): Show | a0001c0002t0018g0090a0001c0002t0018g0095a0001c0002t0020g0068others(35): Show | 38 | 354 | 0.1073 | -7 | c.522 others(24): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADAMTS14_chr10_70667506_70767441 | 70709495 | GTTTTTTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(21): Show |
a0001a0002a0004others(6): Show | a0001c0002a0001c0007a0001c0017others(14): Show | a0001c0002t0034a0001c0007t0037a0001c0017t0004others(16): Show | a0001c0002t0034g0216a0001c0007t0037g0029a0001c0017t0004g0187others(21): Show | 24 | 354 | 0.0678 | -7 | c.870 others(22): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADAMTS17_chr15_99966437_100346975 | 99977393 | TATATATA | T | intron_variant | MODIFIER | HG02040.hp1 NA18988.hp2 |
a0003a0004 | a0003c0015a0004c0003 | a0003c0015t0046a0004c0003t0001 | a0003c0015t0046g0065a0004c0003t0001g0069 | 2 | 228 | 0.0088 | -7 | c.295 others(26): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100077283 | CAAAAAAA | C | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp2 HG02647.hp2 others(6): Show |
a0003a0004a0006others(1): Show | a0003c0009a0004c0003a0004c0030others(2): Show | a0003c0009t0001a0003c0009t0003a0004c0003t0001others(3): Show | a0003c0009t0001g0110a0003c0009t0001g0126a0003c0009t0001g0199others(6): Show | 9 | 228 | 0.0395 | -7 | c.213 others(28): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77334788 | AAATATAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(109): Show |
a0001a0003a0005others(10): Show | a0001c0001a0001c0016a0001c0023others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(41): Show | a0001c0001t0001g0119a0001c0001t0002g0001a0001c0001t0002g0025others(108): Show | 112 | 326 | 0.3436 | -7 | c.185 others(24): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 12/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77375890 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(46): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0007a0003c0002others(11): Show | a0001c0001t0001a0002c0007t0004a0003c0002t0006others(19): Show | a0001c0001t0001g0119a0002c0007t0004g0125a0003c0002t0006g0013others(46): Show | 49 | 326 | 0.1503 | -7 | c.496 others(24): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129633212 | AAAGTTTC | A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp1 others(66): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(66): Show | 69 | 226 | 0.3053 | -7 | c.177 others(26): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129713821 | GGGGTTCT | G | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(76): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(76): Show | 79 | 226 | 0.3496 | -7 | c.331 others(26): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS20_chr12_43348866_43557203 | 43405229 | CAAAAAAA | C | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG02280.hp1 others(17): Show |
a0001a0002a0016 | a0001c0009a0002c0004a0002c0020others(2): Show | a0001c0009t0001a0002c0004t0001a0002c0004t0002others(3): Show | a0001c0009t0001g0172a0002c0004t0001g0015a0002c0004t0001g0251others(17): Show | 20 | 306 | 0.0654 | -7 | c.428 others(26): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43409601 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(76): Show |
a0001a0006a0013others(1): Show | a0001c0001a0001c0002a0001c0021others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0023a0001c0001t0001g0025a0001c0001t0001g0027others(76): Show | 79 | 306 | 0.2582 | -7 | c.428 others(28): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43514560 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG01109.hp2 others(36): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(4): Show | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0039others(36): Show | 39 | 306 | 0.1275 | -7 | c.614 others(26): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43536503 | CAATAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(34): Show |
a0001a0004a0012others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0003g0002a0001c0001t0003g0003a0001c0001t0003g0004others(34): Show | 37 | 306 | 0.1209 | -7 | c.454 others(24): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 2/38 | chr12 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179112281 | TTTAAGAA | T | 3_prime_UTR_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02976.hp1 others(1): Show |
a0002a0004a0010 | a0002c0012a0004c0039a0010c0036others(1): Show | a0002c0012t0007a0004c0039t0007a0010c0036t0007others(1): Show | a0002c0012t0007g0120a0004c0039t0007g0208a0010c0036t0007g0035others(1): Show | 4 | 276 | 0.0145 | -7 | c.*15 others(18): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 22/22 | 1579 | chr5 | TogoVar | |||||
ADAMTS3_chr4_72275969_72574221 | 72316358 | TATCTCTG | T | intron_variant | MODIFIER | HG03453.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0008a0001c0001t0007g0082 | 2 | 182 | 0.0110 | -7 | c.148 others(24): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 10/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72530056 | AATATGTT | A | intron_variant | MODIFIER | HG00140.hp2 HG02258.hp2 HG06807.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0028others(1): Show | a0001c0001t0002g0034a0001c0001t0005g0011a0001c0001t0028g0145others(1): Show | 4 | 182 | 0.0220 | -7 | c.504 others(26): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72530829 | TATATATA | T | intron_variant | MODIFIER | HG02630.hp1 HG02723.hp1 HG03453.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0018 | a0001c0001t0002a0001c0001t0019a0001c0001t0030others(1): Show | a0001c0001t0002g0032a0001c0001t0019g0033a0001c0001t0030g0181others(1): Show | 4 | 182 | 0.0220 | -7 | c.504 others(26): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS5_chr21_26912922_26972088 | 26951679 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(18): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0025a0001c0001t0032a0001c0001t0037others(12): Show | a0001c0001t0025g0246a0001c0001t0032g0142a0001c0001t0037g0187others(17): Show | 21 | 398 | 0.0528 | -7 | c.123 others(26): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 2/7 | chr21 | TogoVar | ||||||
ADAMTS5_chr21_26912922_26972088 | 26963641 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(43): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0018others(6): Show | a0001c0001t0001a0001c0001t0016a0001c0001t0018others(23): Show | a0001c0001t0001g0007a0001c0001t0001g0325a0001c0001t0001g0326others(35): Show | 46 | 398 | 0.1156 | -7 | c.110 others(26): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 1/7 | chr21 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65256978 | TCTCTCTC | T | intron_variant | MODIFIER | HG02280.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0188a0001c0001t0005g0201 | 2 | 204 | 0.0098 | -7 | c.183 others(26): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 14/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65275213 | CAAAAAAA | C | intron_variant | MODIFIER | HG00741.hp2 HG02451.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0002others(1): Show | a0001c0001t0002g0009a0001c0001t0002g0013a0001c0001t0002g0014others(4): Show | 7 | 204 | 0.0343 | -7 | c.151 others(26): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 11/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65276825 | CTGAAGTA | C | intron_variant | MODIFIER | HG00741.hp2 HG02451.hp1 HG02486.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0084a0001c0001t0001g0167a0001c0001t0002g0009others(7): Show | 10 | 204 | 0.0490 | -7 | c.151 others(26): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 11/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65381529 | ATTTTTTT | A | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG02630.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0125a0001c0001t0001g0163a0001c0001t0002g0014others(8): Show | 11 | 204 | 0.0539 | -7 | c.107 others(28): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65398805 | AAAGAAAG | A | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp2 HG01168.hp2 others(6): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0073a0001c0001t0001g0110a0001c0001t0001g0126others(6): Show | 9 | 204 | 0.0441 | -7 | c.107 others(28): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64540975 | CCAATGTG | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(117): Show |
a0001a0003a0006others(7): Show | a0001c0001a0001c0004a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(115): Show | 120 | 286 | 0.4196 | -7 | c.552 others(24): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 36/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64593958 | ATGATGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01257.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(5): Show | a0001c0001t0001g0018a0001c0001t0002g0089a0001c0001t0002g0204others(14): Show | 17 | 286 | 0.0594 | -7 | c.435 others(24): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 28/39 | chr3 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18655806 | TAAAAAAA | T | intron_variant | MODIFIER | HG01975.hp1 HG01975.hp2 HG02976.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0042a0002c0001others(3): Show | a0001c0006t0011a0001c0042t0003a0002c0001t0001others(4): Show | a0001c0006t0011g0047a0001c0042t0003g0194a0002c0001t0001g0195others(4): Show | 7 | 218 | 0.0321 | -7 | c.835 others(24): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18711930 | TCCCTGAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(42): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0005a0001c0007others(24): Show | a0001c0002t0001a0001c0002t0004a0001c0005t0002others(32): Show | a0001c0002t0001g0125a0001c0002t0004g0085a0001c0005t0002g0149others(42): Show | 45 | 218 | 0.2064 | -7 | c.187 others(26): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18768546 | GGTAGGTA | G | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG00738.hp1 others(46): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0005others(21): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(35): Show | a0001c0002t0001g0076a0001c0002t0002g0061a0001c0002t0002g0064others(46): Show | 49 | 218 | 0.2248 | -7 | c.221 others(26): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18815711 | CAAAAAAA | C | intron_variant | MODIFIER | HG02109.hp2 HG02717.hp2 HG02818.hp1 others(4): Show |
a0001a0002a0005others(1): Show | a0001c0057a0001c0080a0002c0001others(4): Show | a0001c0057t0002a0001c0080t0002a0002c0001t0007others(4): Show | a0001c0057t0002g0001a0001c0080t0002g0004a0002c0001t0007g0208others(4): Show | 7 | 218 | 0.0321 | -7 | c.380 others(26): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 20/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18904633 | CAAAAAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG01257.hp1 others(4): Show |
a0001a0002a0020 | a0001c0002a0001c0005a0001c0010others(2): Show | a0001c0002t0002a0001c0005t0002a0001c0010t0002others(3): Show | a0001c0002t0002g0066a0001c0002t0002g0128a0001c0005t0002g0009others(4): Show | 7 | 218 | 0.0321 | -7 | c.485 others(26): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL2_chr9_133529704_133580519 | 133552332 | GTTGAATC | G | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00738.hp1 others(9): Show |
a0001a0002a0007 | a0001c0010a0001c0011a0001c0015others(4): Show | a0001c0010t0001a0001c0010t0002a0001c0011t0001others(5): Show | a0001c0010t0001g0084a0001c0010t0002g0075a0001c0010t0002g0088others(9): Show | 12 | 152 | 0.0790 | -7 | c.940 others(24): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL2_chr9_133529704_133580519 | 133563998 | AGAGAAGG | A | intron_variant | MODIFIER | HG01496.hp2 HG01943.hp2 HG02145.hp1 others(10): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(6): Show | a0001c0001t0001g0052a0001c0001t0001g0120a0001c0001t0001g0130others(10): Show | 13 | 152 | 0.0855 | -7 | c.174 others(26): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83678788 | TGTATATA | T | intron_variant | MODIFIER | HG01884.hp1 HG02896.hp2 HG02897.hp2 |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0008c0010t0001 | a0001c0001t0001g0073a0001c0001t0001g0075a0008c0010t0001g0074 | 3 | 274 | 0.0110 | -7 | c.69+ others(24): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 2/29 | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83994586 | GTTTTTTT | G | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(9): Show |
a0001a0007 | a0001c0001a0001c0057a0007c0007 | a0001c0001t0001a0001c0057t0001a0007c0007t0001 | a0001c0001t0001g0053a0001c0001t0001g0103a0001c0001t0001g0174others(9): Show | 12 | 274 | 0.0438 | -7 | c.397 others(26): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 23/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAP1_chr7_892900_959680 | 906755 | TGGACAGG | T | intron_variant | MODIFIER | HG03654.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0014 | 2 | 14 | 0.1429 | -7 | c.389 others(24): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45186885 | TATGTCTA | T | intron_variant | MODIFIER | HG02896.hp2 HG03225.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0210a0001c0001t0002g0213a0001c0001t0014g0209 | 3 | 350 | 0.0086 | -7 | c.156 others(26): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 8/10 | chr21 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1235764 | CCAAAGAG | C | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01934.hp2 others(6): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0010 | a0001c0001t0010a0001c0001t0031a0002c0002t0002others(5): Show | a0001c0001t0010g0013a0001c0001t0031g0059a0002c0002t0002g0043others(6): Show | 9 | 106 | 0.0849 | -7 | c.136 others(26): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1236141 | CTGTGAAG | C | intron_variant | MODIFIER | HG02040.hp1 HG02615.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0007 | a0001c0003t0001g0052a0002c0002t0007g0004 | 2 | 106 | 0.0189 | -7 | c.136 others(26): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1236513 | CTGTGAAG | C | intron_variant | MODIFIER | HG02040.hp1 NA18945.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0007 | a0001c0001t0003g0102a0002c0002t0007g0004 | 2 | 106 | 0.0189 | -7 | c.136 others(26): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1566063 | CAAAAAAA | C | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG02055.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0030others(2): Show | a0001c0001t0001g0065a0001c0001t0011g0026a0001c0001t0030g0034others(3): Show | 6 | 106 | 0.0566 | -7 | c.100 others(28): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar |