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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS2_chr5_179105853_179350461 | 179245792 | AAAAC | A | intron_variant | MODIFIER | HG00609.hp2 HG01099.hp1 HG01952.hp1 others(4): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0054a0001c0001t0002g0036a0001c0001t0004g0033others(4): Show | 7 | 276 | 0.0254 | -4 | c.688 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179254999 | TGATG | T | intron_variant | MODIFIER | HG00639.hp1 HG01891.hp2 HG02451.hp2 others(2): Show |
a0001a0003a0010others(1): Show | a0001c0014a0003c0107a0010c0036others(2): Show | a0001c0014t0002a0003c0107t0011a0010c0036t0004others(2): Show | a0001c0014t0002g0131a0003c0107t0011g0212a0010c0036t0004g0063others(2): Show | 5 | 276 | 0.0181 | -4 | c.688 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179256529 | TGAGA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp2 others(35): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0018others(25): Show | a0001c0001t0004a0001c0004t0002a0001c0004t0026others(28): Show | a0001c0001t0004g0026a0001c0004t0002g0162a0001c0004t0002g0163others(35): Show | 38 | 276 | 0.1377 | -4 | c.688 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179313714 | ACACT | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(36): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0014others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0100a0001c0001t0002g0036a0001c0001t0004g0026others(36): Show | 39 | 276 | 0.1413 | -4 | c.534 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179313792 | GCACA | G | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02622.hp2 others(3): Show |
a0001a0002a0004 | a0001c0014a0001c0065a0001c0074others(3): Show | a0001c0014t0002a0001c0065t0002a0001c0074t0004others(3): Show | a0001c0014t0002g0131a0001c0065t0002g0118a0001c0074t0004g0062others(3): Show | 6 | 276 | 0.0217 | -4 | c.534 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179313800 | ACACT | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp1 others(37): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0024others(24): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0006others(28): Show | a0001c0001t0001g0014a0001c0001t0001g0067a0001c0001t0001g0069others(37): Show | 40 | 276 | 0.1449 | -4 | c.534 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179313886 | ACACT | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(54): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0004a0001c0014others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(43): Show | a0001c0001t0001g0100a0001c0001t0002g0036a0001c0001t0004g0026others(54): Show | 57 | 276 | 0.2065 | -4 | c.534 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179313972 | ACACT | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(79): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0004a0001c0014others(41): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(55): Show | a0001c0001t0001g0014a0001c0001t0001g0069a0001c0001t0001g0083others(79): Show | 82 | 276 | 0.2971 | -4 | c.534 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179318597 | CAGTT | C | intron_variant | MODIFIER | HG00621.hp2 NA18970.hp2 NA20905.hp1 |
a0001a0004a0016 | a0001c0001a0004c0102a0016c0025 | a0001c0001t0001a0004c0102t0001a0016c0025t0001 | a0001c0001t0001g0014a0004c0102t0001g0251a0016c0025t0001g0127 | 3 | 276 | 0.0109 | -4 | c.534 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179326201 | CGTGT | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0014a0001c0046others(5): Show | a0001c0001t0001a0001c0014t0002a0001c0014t0008others(6): Show | a0001c0001t0001g0066a0001c0014t0002g0073a0001c0014t0008g0065others(6): Show | 9 | 276 | 0.0326 | -4 | c.534 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179330816 | CCTAT | C | intron_variant | MODIFIER | HG00408.hp1 HG02145.hp2 HG03130.hp1 others(11): Show |
a0001a0002a0014others(6): Show | a0001c0004a0001c0014a0001c0046others(9): Show | a0001c0004t0004a0001c0014t0002a0001c0046t0002others(10): Show | a0001c0004t0004g0144a0001c0004t0004g0196a0001c0014t0002g0073others(11): Show | 14 | 276 | 0.0507 | -4 | c.534 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179341339 | GGAAA | G | intron_variant | MODIFIER | HG00408.hp1 HG03669.hp1 NA18952.hp1 others(4): Show |
a0014a0021a0022others(3): Show | a0014c0038a0021c0088a0022c0089others(3): Show | a0014c0038t0002a0014c0038t0019a0021c0088t0003others(4): Show | a0014c0038t0002g0219a0014c0038t0019g0213a0021c0088t0003g0214others(4): Show | 7 | 276 | 0.0254 | -4 | c.534 others(21): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72288923 | TACAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00609.hp1 others(34): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0075a0001c0001t0001g0105a0001c0001t0002g0019others(34): Show | 37 | 182 | 0.2033 | -4 | c.293 others(19): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 20/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72299053 | CTGTG | C | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG01081.hp1 others(34): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0017others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0083a0001c0001t0001g0091a0001c0001t0001g0106others(34): Show | 37 | 182 | 0.2033 | -4 | c.242 others(21): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 17/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72340335 | GTGTA | G | intron_variant | MODIFIER | HG03453.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0008a0001c0001t0007g0082 | 2 | 182 | 0.0110 | -4 | c.662 others(19): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72397562 | TACAC | T | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02622.hp2 others(9): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(9): Show | a0001c0001t0001g0071a0001c0001t0002g0032a0001c0001t0019g0033others(9): Show | 12 | 182 | 0.0659 | -4 | c.661 others(23): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72400277 | CATGG | C | intron_variant | MODIFIER | HG02970.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0005a0001c0015t0009 | a0001c0001t0005g0008a0001c0015t0009g0086 | 2 | 182 | 0.0110 | -4 | c.661 others(23): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72404825 | AACAC | A | intron_variant | MODIFIER | HG01071.hp1 HG01081.hp2 HG01109.hp1 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0032others(7): Show | a0001c0001t0001g0163a0001c0001t0001g0164a0001c0001t0001g0166others(16): Show | 19 | 182 | 0.1044 | -4 | c.661 others(21): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72415129 | ATAAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00609.hp1 others(100): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0075a0001c0001t0001g0077a0001c0001t0001g0083others(100): Show | 103 | 182 | 0.5659 | -4 | c.505 others(19): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72432757 | ATGAG | A | intron_variant | MODIFIER | HG02486.hp1 HG02630.hp2 HG03139.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0073a0001c0001t0002g0019a0001c0001t0002g0020others(3): Show | 6 | 182 | 0.0330 | -4 | c.505 others(23): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456017 | CTATA | C | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0029others(1): Show | a0001c0001t0001g0091a0001c0001t0002g0032a0001c0001t0029g0160others(1): Show | 4 | 182 | 0.0220 | -4 | c.505 others(23): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456060 | TTTAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00639.hp2 others(33): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0020 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(7): Show | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0003g0036others(33): Show | 36 | 182 | 0.1978 | -4 | c.505 others(23): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456085 | ATATT | A | intron_variant | MODIFIER | HG02630.hp2 HG03139.hp1 |
a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0017a0001c0004t0008g0018 | 2 | 182 | 0.0110 | -4 | c.505 others(23): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72470376 | TACAC | T | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01891.hp1 others(5): Show |
a0001a0003a0006 | a0001c0001a0001c0003a0003c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0029others(3): Show | a0001c0001t0001g0091a0001c0001t0002g0027a0001c0001t0002g0030others(5): Show | 8 | 182 | 0.0440 | -4 | c.505 others(23): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72510819 | CAAAA | C | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02572.hp1 others(10): Show |
a0001a0003a0009 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0019a0001c0003t0001others(5): Show | a0001c0001t0001g0152a0001c0001t0001g0155a0001c0001t0001g0156others(10): Show | 13 | 182 | 0.0714 | -4 | c.504 others(23): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72526570 | ATGTG | A | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02572.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0152a0001c0001t0001g0153a0001c0001t0001g0155others(7): Show | 10 | 182 | 0.0550 | -4 | c.504 others(23): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72526725 | TATAC | T | intron_variant | MODIFIER | HG02055.hp1 HG02647.hp2 |
a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0084a0002c0009t0001g0085 | 2 | 182 | 0.0110 | -4 | c.504 others(23): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72526733 | CATAT | C | intron_variant | MODIFIER | HG00408.hp1 HG01070.hp2 HG01071.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0091a0001c0001t0001g0146a0001c0001t0002g0038others(19): Show | 22 | 182 | 0.1209 | -4 | c.504 others(23): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72529769 | TGTTA | T | intron_variant | MODIFIER | HG02055.hp1 HG02647.hp2 HG02809.hp1 |
a0002 | a0002c0002a0002c0009 | a0002c0002t0001a0002c0009t0001 | a0002c0002t0001g0087a0002c0009t0001g0084a0002c0009t0001g0085 | 3 | 182 | 0.0165 | -4 | c.504 others(23): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72530078 | ATATT | A | intron_variant | MODIFIER | HG00639.hp2 HG02165.hp2 NA18962.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0104a0002c0002t0001g0122a0002c0002t0001g0123others(1): Show | 4 | 182 | 0.0220 | -4 | c.504 others(23): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72530225 | TATTA | T | intron_variant | MODIFIER | HG02486.hp2 HG03516.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0006 | a0001c0001t0001g0075a0003c0005t0006g0076 | 2 | 182 | 0.0110 | -4 | c.504 others(23): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72532491 | GCACA | G | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG01081.hp1 others(56): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0071a0001c0001t0001g0105a0001c0001t0001g0106others(56): Show | 59 | 182 | 0.3242 | -4 | c.504 others(23): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72572566 | ATAGT | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(55): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0015a0001c0017others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(11): Show | a0001c0001t0001g0071a0001c0001t0001g0099a0001c0001t0001g0105others(55): Show | 58 | 182 | 0.3187 | -4 | c.-38 others(15): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3346 | chr4 | TogoVar | ||||||
ADAMTS4_chr1_161179302_161204054 | 161188591 | TTCCC | T | 3_prime_UTR_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01243.hp1 others(37): Show |
a0003a0013 | a0003c0004a0003c0007a0013c0011 | a0003c0004t0012a0003c0004t0016a0003c0004t0030others(26): Show | a0003c0004t0012g0009a0003c0004t0016g0022a0003c0004t0030g0044others(26): Show | 40 | 374 | 0.1070 | -4 | c.*25 others(15): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 9/9 | 2543 | chr1 | TogoVar | |||||
ADAMTS4_chr1_161179302_161204054 | 161188883 | AATAT | A | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01934.hp1 HG02602.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0050a0001c0001t0158a0001c0001t0159others(4): Show | a0001c0001t0050g0032a0001c0001t0158g0143a0001c0001t0159g0120others(4): Show | 8 | 374 | 0.0214 | -4 | c.*22 others(15): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 9/9 | 2251 | chr1 | TogoVar | |||||
ADAMTS4_chr1_161179302_161204054 | 161195934 | GACAC | G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(107): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0003a0003c0004others(2): Show | a0001c0002t0004a0001c0002t0008a0001c0002t0009others(67): Show | a0001c0002t0004g0004a0001c0002t0004g0203a0001c0002t0008g0008others(74): Show | 110 | 374 | 0.2941 | -4 | c.109 others(21): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
ADAMTS5_chr21_26912922_26972088 | 26920020 | TAAAG | T | 3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02809.hp2 HG02896.hp1 others(4): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0004a0006c0012others(1): Show | a0001c0001t0143a0004c0004t0094a0006c0012t0131others(1): Show | a0001c0001t0143g0354a0004c0004t0094g0094a0006c0012t0131g0280others(4): Show | 7 | 398 | 0.0176 | -4 | c.*40 others(15): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 8/8 | 4029 | chr21 | TogoVar | |||||
ADAMTS5_chr21_26912922_26972088 | 26928665 | CTCTT | C | intron_variant | MODIFIER | HG02109.hp1 HG03041.hp2 HG03098.hp2 others(2): Show |
a0002a0006a0009 | a0002c0002a0006c0012a0009c0013 | a0002c0002t0103a0006c0012t0131a0009c0013t0019 | a0002c0002t0103g0150a0006c0012t0131g0280a0009c0013t0019g0030others(2): Show | 5 | 398 | 0.0126 | -4 | c.222 others(23): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 7/7 | chr21 | TogoVar | ||||||
ADAMTS5_chr21_26912922_26972088 | 26928732 | CTCTT | C | intron_variant | MODIFIER | HG02055.hp1 HG03486.hp1 NA19240.hp1 |
a0001a0004 | a0001c0001a0001c0005a0004c0004 | a0001c0001t0091a0001c0005t0084a0004c0004t0064 | a0001c0001t0091g0106a0001c0005t0084g0077a0004c0004t0064g0028 | 3 | 398 | 0.0075 | -4 | c.222 others(23): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 7/7 | chr21 | TogoVar | ||||||
ADAMTS5_chr21_26912922_26972088 | 26957447 | TGATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(288): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0005a0001c0006others(28): Show | a0001c0001t0010a0001c0001t0018a0001c0001t0025others(133): Show | a0001c0001t0010g0015a0001c0001t0010g0145a0001c0001t0010g0146others(264): Show | 291 | 398 | 0.7312 | -4 | c.110 others(23): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 1/7 | chr21 | TogoVar | ||||||
ADAMTS5_chr21_26912922_26972088 | 26963641 | CAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp2 others(57): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0010a0001c0001t0025a0001c0001t0037others(26): Show | a0001c0001t0010g0151a0001c0001t0010g0152a0001c0001t0010g0153others(50): Show | 60 | 398 | 0.1508 | -4 | c.110 others(23): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 1/7 | chr21 | TogoVar | ||||||
ADAMTS5_chr21_26912922_26972088 | 26971661 | TCAAG | T | upstream_gene_variant | MODIFIER | HG02040.hp2 HG02080.hp1 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0326a0001c0001t0001g0327a0001c0001t0016g0315 | 3 | 398 | 0.0075 | -4 | c.-52 others(15): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 4574 | chr21 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65162620 | TACAC | T | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00741.hp1 others(36): Show |
a0001 | a0001c0001a0001c0008a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0007a0001c0001t0001g0026a0001c0001t0001g0035others(36): Show | 39 | 204 | 0.1912 | -4 | c.324 others(23): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 24/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65179954 | ACGCG | A | intron_variant | MODIFIER | HG01952.hp1 HG01981.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0071a0001c0001t0007g0011a0001c0001t0007g0032others(1): Show | 4 | 204 | 0.0196 | -4 | c.291 others(23): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 22/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65179956 | GCGCA | G | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00735.hp2 others(93): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0019others(93): Show | 96 | 204 | 0.4706 | -4 | c.291 others(23): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 22/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65179958 | GCACA | G | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp2 HG02970.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0005a0001c0001t0001g0020a0001c0001t0001g0022others(4): Show | 7 | 204 | 0.0343 | -4 | c.291 others(23): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 22/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65206838 | TCACA | T | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG01074.hp2 others(50): Show |
a0001a0005 | a0001c0001a0001c0008a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0018others(50): Show | 53 | 204 | 0.2598 | -4 | c.257 others(23): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 20/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65216116 | TCAAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG01074.hp2 others(47): Show |
a0001 | a0001c0001a0001c0008a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0007a0001c0001t0001g0018a0001c0001t0001g0026others(47): Show | 50 | 204 | 0.2451 | -4 | c.227 others(21): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 18/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65216782 | TACAC | T | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp2 HG01106.hp1 others(50): Show |
a0001a0005 | a0001c0001a0001c0008a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0018others(50): Show | 53 | 204 | 0.2598 | -4 | c.227 others(23): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 18/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65228241 | AGGCT | A | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01071.hp2 others(43): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0030a0001c0001t0001g0036a0001c0001t0001g0038others(43): Show | 46 | 204 | 0.2255 | -4 | c.193 others(23): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar |