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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS20_chr12_43348866_43557203 | 43453721 | AT | A | intron_variant | MODIFIER | HG00323.hp2 HG01106.hp1 HG01192.hp1 others(16): Show |
a0001a0012 | a0001c0001a0001c0003a0012c0024 | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(1): Show | a0001c0001t0001g0226a0001c0003t0001g0008a0001c0003t0001g0010others(16): Show | 19 | 306 | 0.0621 | -1 | c.176 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 12/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43455711 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(133): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(133): Show | 136 | 306 | 0.4444 | -1 | c.161 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460985 | TA | T | intron_variant | MODIFIER | HG00140.hp2 NA19030.hp1 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0138a0001c0002t0002g0277a0001c0002t0002g0289 | 3 | 306 | 0.0098 | -1 | c.161 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460987 | TA | T | intron_variant | MODIFIER | HG01106.hp2 HG01169.hp2 HG02132.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0002t0001g0139a0001c0002t0001g0140a0001c0003t0001g0208others(3): Show | 6 | 306 | 0.0196 | -1 | c.161 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | AT | A | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01081.hp2 others(21): Show |
a0001a0004a0009 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(2): Show | a0001c0002t0001g0141a0001c0002t0001g0142a0001c0002t0001g0143others(21): Show | 24 | 306 | 0.0784 | -1 | c.161 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43466406 | AT | A | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG01891.hp2 others(19): Show |
a0002a0016 | a0002c0004a0002c0026a0002c0027others(1): Show | a0002c0004t0001a0002c0004t0002a0002c0026t0001others(2): Show | a0002c0004t0001g0015a0002c0004t0001g0251a0002c0004t0001g0252others(19): Show | 22 | 306 | 0.0719 | -1 | c.136 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 9/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43467009 | TG | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(130): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0009a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(130): Show | 133 | 306 | 0.4346 | -1 | c.122 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 8/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43468118 | TG | T | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG00673.hp2 others(48): Show |
a0001a0005a0015 | a0001c0002a0001c0011a0005c0010others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(3): Show | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0051others(48): Show | 51 | 306 | 0.1667 | -1 | c.122 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 8/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43476992 | TA | T | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG00673.hp2 others(67): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(11): Show | a0001c0001t0001g0164a0001c0001t0001g0250a0001c0002t0001g0011others(67): Show | 70 | 306 | 0.2288 | -1 | c.111 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 7/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43477053 | TA | T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00558.hp2 others(89): Show |
a0001a0002a0004others(6): Show | a0001c0002a0001c0003a0001c0005others(11): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(14): Show | a0001c0002t0001g0196a0001c0002t0001g0198a0001c0002t0001g0199others(89): Show | 92 | 306 | 0.3007 | -1 | c.111 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 7/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43484483 | AC | A | intron_variant | MODIFIER | HG02080.hp2 NA18952.hp1 NA18971.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077a0001c0001t0001g0219a0001c0001t0001g0220others(4): Show | 7 | 306 | 0.0229 | -1 | c.111 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 7/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43485094 | CA | C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00597.hp1 others(95): Show |
a0001a0002a0004others(5): Show | a0001c0002a0001c0003a0001c0011others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(13): Show | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0051others(95): Show | 98 | 306 | 0.3203 | -1 | c.111 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 7/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43487581 | TA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(130): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0009a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(130): Show | 133 | 306 | 0.4346 | -1 | c.111 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 7/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43498413 | TC | T | intron_variant | MODIFIER | HG00738.hp1 HG02055.hp2 HG02071.hp1 others(21): Show |
a0001a0002a0013 | a0001c0001a0002c0020a0013c0018 | a0001c0001t0001a0002c0020t0001a0013c0018t0001 | a0001c0001t0001g0077a0001c0001t0001g0219a0001c0001t0001g0220others(21): Show | 24 | 306 | 0.0784 | -1 | c.867 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43499486 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(144): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(144): Show | 147 | 306 | 0.4804 | -1 | c.867 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43500034 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(241): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(25): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(241): Show | 244 | 306 | 0.7974 | -1 | c.867 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43503144 | GA | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(290): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(290): Show | 293 | 306 | 0.9575 | -1 | c.614 others(8): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43506481 | CT | C | intron_variant | MODIFIER | HG01192.hp2 HG02055.hp1 HG02257.hp2 others(5): Show |
a0001 | a0001c0003a0001c0025 | a0001c0003t0001a0001c0025t0003 | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0131others(5): Show | 8 | 306 | 0.0261 | -1 | c.614 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43506780 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(173): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0025others(173): Show | 176 | 306 | 0.5752 | -1 | c.614 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43514086 | TA | T | intron_variant | MODIFIER | HG00738.hp2 HG02615.hp2 HG02922.hp1 others(6): Show |
a0001a0004 | a0001c0002a0001c0003a0001c0011others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(4): Show | a0001c0002t0001g0075a0001c0002t0001g0121a0001c0002t0001g0128others(6): Show | 9 | 306 | 0.0294 | -1 | c.614 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43514560 | CA | C | intron_variant | MODIFIER | HG02647.hp2 HG02970.hp2 HG03130.hp2 others(3): Show |
a0001a0008 | a0001c0002a0008c0015 | a0001c0002t0002a0008c0015t0002 | a0001c0002t0002g0283a0001c0002t0002g0287a0001c0002t0002g0295others(3): Show | 6 | 306 | 0.0196 | -1 | c.614 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43516242 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00639.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0135a0001c0002t0001g0138a0001c0002t0001g0139others(9): Show | 12 | 306 | 0.0392 | -1 | c.614 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43518817 | GA | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(161): Show |
a0001a0002a0006others(6): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(161): Show | 164 | 306 | 0.5360 | -1 | c.613 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43521605 | AT | A | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 HG02896.hp1 others(2): Show |
a0001a0014 | a0001c0001a0014c0019 | a0001c0001t0003a0014c0019t0003 | a0001c0001t0003g0002a0001c0001t0003g0003a0001c0001t0003g0004others(2): Show | 5 | 306 | 0.0163 | -1 | c.613 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43525076 | TC | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00639.hp1 others(12): Show |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0001a0004c0006t0001 | a0001c0002t0001g0135a0001c0002t0001g0138a0001c0002t0001g0139others(12): Show | 15 | 306 | 0.0490 | -1 | c.613 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43528348 | CA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(47): Show |
a0001a0005a0012others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0002g0275a0001c0002t0001g0011a0001c0002t0001g0089others(47): Show | 50 | 306 | 0.1634 | -1 | c.613 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43529867 | GA | G | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp2 HG02257.hp1 others(10): Show |
a0001a0016 | a0001c0002a0016c0028 | a0001c0002t0001a0001c0002t0002a0016c0028t0001 | a0001c0002t0001g0198a0001c0002t0001g0199a0001c0002t0002g0292others(10): Show | 13 | 306 | 0.0425 | -1 | c.613 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43530581 | CA | C | intron_variant | MODIFIER | HG02683.hp1 HG03017.hp1 HG03834.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0089a0001c0002t0001g0100a0001c0002t0001g0101others(2): Show | 5 | 306 | 0.0163 | -1 | c.613 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43532540 | CT | C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00597.hp1 others(22): Show |
a0001a0002a0016 | a0001c0001a0001c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0002t0002a0002c0004t0001others(4): Show | a0001c0001t0001g0265a0001c0001t0001g0266a0001c0002t0002g0274others(22): Show | 25 | 306 | 0.0817 | -1 | c.454 others(8): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 2/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43537216 | GT | G | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG00673.hp2 others(40): Show |
a0001a0005a0015 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0098others(40): Show | 43 | 306 | 0.1405 | -1 | c.454 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 2/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43538953 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(120): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(20): Show | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0072others(120): Show | 123 | 306 | 0.4020 | -1 | c.454 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 2/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43539886 | AT | A | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00639.hp2 others(44): Show |
a0001a0005a0015 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(4): Show | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0098others(44): Show | 47 | 306 | 0.1536 | -1 | c.454 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 2/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43540639 | TA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(273): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(30): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(273): Show | 276 | 306 | 0.9020 | -1 | c.454 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 2/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43541765 | TG | T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00597.hp1 others(62): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0011others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(8): Show | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0098others(62): Show | 65 | 306 | 0.2124 | -1 | c.453 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 2/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43542515 | GT | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(271): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(30): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(271): Show | 274 | 306 | 0.8954 | -1 | c.453 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 2/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43547701 | AG | A | intron_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG00741.hp2 others(56): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(10): Show | a0001c0001t0001g0219a0001c0001t0001g0220a0001c0001t0001g0222others(56): Show | 59 | 306 | 0.1928 | -1 | c.453 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 2/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43551825 | CT | C | splice_region_variant others(1): Show |
LOW | HG00438.hp2 HG00558.hp2 HG00597.hp1 others(20): Show |
a0001a0002a0016 | a0001c0001a0002c0004a0002c0026others(2): Show | a0001c0001t0001a0002c0004t0001a0002c0004t0002others(3): Show | a0001c0001t0001g0265a0001c0001t0001g0266a0002c0004t0001g0251others(20): Show | 23 | 306 | 0.0752 | -1 | c.91+ others(5): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 1/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43553983 | CT | C | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02647.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0238a0001c0002t0002g0285a0001c0002t0002g0293others(7): Show | 10 | 306 | 0.0327 | -1 | c.-20 others(6): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 1781 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43554850 | TA | T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00597.hp1 others(65): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(12): Show | a0001c0001t0001g0069a0001c0001t0001g0070a0001c0001t0001g0071others(65): Show | 68 | 306 | 0.2222 | -1 | c.-29 others(6): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 2648 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43554875 | AT | A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00741.hp2 HG01169.hp2 others(26): Show |
a0001a0004a0008others(2): Show | a0001c0002a0001c0003a0001c0005others(5): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(5): Show | a0001c0002t0001g0196a0001c0002t0001g0198a0001c0002t0001g0199others(26): Show | 29 | 306 | 0.0948 | -1 | c.-29 others(6): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 2673 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43555029 | AT | A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG01928.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0046others(6): Show | 9 | 306 | 0.0294 | -1 | c.-31 others(6): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 2827 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43555155 | CA | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00639.hp1 others(11): Show |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0001a0004c0006t0001 | a0001c0002t0001g0135a0001c0002t0001g0138a0001c0002t0001g0139others(11): Show | 14 | 306 | 0.0458 | -1 | c.-32 others(6): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 2953 | chr12 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179116260 | AC | A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(153): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0004a0001c0014others(61): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(85): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0011others(153): Show | 156 | 276 | 0.5652 | -1 | c.317 others(10): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 21/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179117553 | AT | A | intron_variant | MODIFIER | HG01167.hp2 HG01346.hp2 HG01891.hp2 others(10): Show |
a0001a0002a0004others(4): Show | a0001c0014a0001c0048a0002c0012others(7): Show | a0001c0014t0002a0001c0048t0004a0002c0012t0007others(9): Show | a0001c0014t0002g0073a0001c0014t0002g0131a0001c0048t0004g0195others(10): Show | 13 | 276 | 0.0471 | -1 | c.317 others(10): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 21/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179131306 | CA | C | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00673.hp2 others(21): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0014others(18): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(21): Show | a0001c0001t0001g0115a0001c0004t0001g0146a0001c0004t0002g0167others(21): Show | 24 | 276 | 0.0870 | -1 | c.229 others(9): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 15/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179134858 | TC | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(46): Show |
a0001a0002a0003others(7): Show | a0001c0014a0001c0018a0001c0022others(22): Show | a0001c0014t0002a0001c0014t0008a0001c0014t0013others(30): Show | a0001c0014t0002g0073a0001c0014t0002g0131a0001c0014t0008g0065others(46): Show | 49 | 276 | 0.1775 | -1 | c.208 others(10): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179135057 | TC | T | intron_variant | MODIFIER | HG02559.hp1 HG02717.hp1 HG02818.hp1 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0014a0002c0007a0002c0012others(4): Show | a0001c0014t0013a0002c0007t0002a0002c0012t0001others(5): Show | a0001c0014t0013g0112a0002c0007t0002g0029a0002c0012t0001g0056others(5): Show | 8 | 276 | 0.0290 | -1 | c.208 others(9): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179135088 | GC | G | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02129.hp2 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0014a0001c0068others(11): Show | a0001c0001t0013a0001c0014t0002a0001c0014t0008others(12): Show | a0001c0001t0013g0021a0001c0014t0002g0131a0001c0014t0008g0065others(14): Show | 17 | 276 | 0.0616 | -1 | c.208 others(9): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179135108 | GC | G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(19): Show |
a0001a0002a0004others(4): Show | a0001c0018a0001c0022a0001c0048others(8): Show | a0001c0018t0002a0001c0022t0002a0001c0048t0004others(9): Show | a0001c0018t0002g0161a0001c0018t0002g0178a0001c0018t0002g0181others(19): Show | 22 | 276 | 0.0797 | -1 | c.208 others(9): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179137472 | TC | T | intron_variant | MODIFIER | HG00735.hp1 HG01192.hp2 NA20752.hp1 |
a0005 | a0005c0013a0005c0047 | a0005c0013t0010a0005c0047t0010 | a0005c0013t0010g0075a0005c0013t0010g0077a0005c0047t0010g0175 | 3 | 276 | 0.0109 | -1 | c.195 others(9): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 12/21 | chr5 | TogoVar |