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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS19_chr5_129455298_129743683 | 129731892 | T | TG | intron_variant | MODIFIER | HG02258.hp1 HG02630.hp2 HG02818.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0005a0001c0001t0007a0002c0004t0005 | a0001c0001t0005g0056a0001c0001t0005g0129a0001c0001t0005g0221others(4): Show | 7 | 226 | 0.0310 | 1 | c.331 others(20): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 21/22 | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129735279 | T | TA | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00735.hp2 others(15): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0002a0001c0003t0002a0001c0006t0002others(5): Show | a0001c0001t0002g0016a0001c0001t0002g0031a0001c0001t0002g0032others(15): Show | 18 | 226 | 0.0797 | 1 | c.349 others(9): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS1_chr21_26830755_26850409 | 26831826 | C | CA | downstream_gene_variant | MODIFIER | HG01192.hp2 HG01891.hp2 HG02109.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0024others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0047others(8): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0008g0120others(9): Show | 13 | 480 | 0.0271 | 1 | c.*57 others(12): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 3928 | chr21 | TogoVar | ||||||
ADAMTS1_chr21_26830755_26850409 | 26835201 | G | GC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(229): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(77): Show | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0018others(121): Show | 232 | 480 | 0.4833 | 1 | c.*23 others(12): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 553 | chr21 | TogoVar | ||||||
ADAMTS1_chr21_26830755_26850409 | 26841994 | C | CA | splice_region_variant others(1): Show |
LOW | HG01255.hp1 HG02257.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0019a0001c0005t0037a0001c0005t0038others(1): Show | a0001c0005t0019g0021a0001c0005t0037g0062a0001c0005t0038g0063others(1): Show | 6 | 480 | 0.0125 | 1 | c.107 others(7): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 2/8 | chr21 | TogoVar | ||||||
ADAMTS1_chr21_26830755_26850409 | 26847405 | C | CT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(143): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(46): Show | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0025others(62): Show | 146 | 480 | 0.3042 | 1 | c.-24 others(12): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 1997 | chr21 | TogoVar | ||||||
ADAMTS1_chr21_26830755_26850409 | 26849664 | G | GT | upstream_gene_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG01123.hp2 others(67): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(32): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0018others(46): Show | 70 | 480 | 0.1458 | 1 | c.-47 others(12): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 4256 | chr21 | TogoVar | ||||||
ADAMTS1_chr21_26830755_26850409 | 26849678 | T | TG | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02486.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0047a0001c0001t0051others(5): Show | a0001c0001t0001g0002a0001c0001t0047g0114a0001c0001t0051g0117others(5): Show | 9 | 480 | 0.0188 | 1 | c.-47 others(12): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 4270 | chr21 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43354723 | A | AT | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG01106.hp1 others(54): Show |
a0001a0004a0009others(3): Show | a0001c0003a0001c0005a0001c0009others(5): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(7): Show | a0001c0003t0001g0008a0001c0003t0001g0010a0001c0003t0001g0129others(54): Show | 57 | 306 | 0.1863 | 1 | c.564 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 38/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43358836 | C | CA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00741.hp2 others(51): Show |
a0001a0004a0009others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0016a0001c0001t0001g0071a0001c0001t0001g0173others(51): Show | 54 | 306 | 0.1765 | 1 | c.553 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 37/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43360087 | T | TA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG01106.hp1 others(54): Show |
a0001a0004a0009others(3): Show | a0001c0003a0001c0005a0001c0009others(5): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(7): Show | a0001c0003t0001g0008a0001c0003t0001g0010a0001c0003t0001g0129others(54): Show | 57 | 306 | 0.1863 | 1 | c.553 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 37/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43362830 | G | GA | intron_variant | MODIFIER | HG00597.hp1 HG00741.hp2 HG01167.hp2 others(33): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0001g0166a0001c0002t0001g0198a0001c0002t0001g0199others(33): Show | 36 | 306 | 0.1177 | 1 | c.553 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 37/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43373670 | C | CT | intron_variant | MODIFIER | HG00280.hp1 HG02293.hp2 NA18522.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0073a0001c0002t0001g0111a0001c0002t0001g0135others(4): Show | 7 | 306 | 0.0229 | 1 | c.544 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 36/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43375172 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp1 others(28): Show |
a0001a0012 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0072a0001c0001t0001g0085a0001c0002t0001g0052others(28): Show | 31 | 306 | 0.1013 | 1 | c.544 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 36/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43379986 | C | CA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG01106.hp1 others(54): Show |
a0001a0004a0009others(3): Show | a0001c0003a0001c0005a0001c0009others(5): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(7): Show | a0001c0003t0001g0008a0001c0003t0001g0010a0001c0003t0001g0129others(54): Show | 57 | 306 | 0.1863 | 1 | c.479 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 31/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43381618 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(211): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(211): Show | 214 | 306 | 0.6994 | 1 | c.479 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 31/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43381780 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(76): Show |
a0001a0003a0012 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0028others(76): Show | 79 | 306 | 0.2582 | 1 | c.479 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 31/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43389689 | G | GT | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG01106.hp1 others(54): Show |
a0001a0004a0009others(3): Show | a0001c0003a0001c0005a0001c0009others(5): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(7): Show | a0001c0003t0001g0008a0001c0003t0001g0010a0001c0003t0001g0129others(54): Show | 57 | 306 | 0.1863 | 1 | c.445 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 29/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43395677 | C | CT | intron_variant | MODIFIER | HG00323.hp2 HG02055.hp2 HG02257.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0001 | a0001c0001t0001g0242a0001c0002t0002g0289a0001c0002t0002g0298others(4): Show | 7 | 306 | 0.0229 | 1 | c.445 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 29/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43401741 | C | CT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(176): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(176): Show | 179 | 306 | 0.5850 | 1 | c.428 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43402874 | A | AT | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp2 HG01884.hp1 others(17): Show |
a0001a0003a0010others(1): Show | a0001c0002a0001c0005a0003c0007others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0005t0001others(3): Show | a0001c0002t0001g0198a0001c0002t0001g0199a0001c0002t0001g0212others(17): Show | 20 | 306 | 0.0654 | 1 | c.428 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43405228 | A | AC | intron_variant | MODIFIER | HG02451.hp2 HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0158a0001c0012t0001g0021a0001c0012t0001g0022 | 3 | 306 | 0.0098 | 1 | c.428 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43405229 | C | CA | intron_variant | MODIFIER | HG00323.hp2 HG00741.hp2 HG01106.hp1 others(19): Show |
a0001a0004 | a0001c0002a0001c0003a0004c0006 | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0002t0001g0145a0001c0002t0001g0146a0001c0002t0001g0147others(19): Show | 22 | 306 | 0.0719 | 1 | c.428 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43412802 | A | AT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(25): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0007others(4): Show | a0001c0001t0001g0023a0001c0001t0001g0059a0001c0001t0001g0078others(25): Show | 28 | 306 | 0.0915 | 1 | c.428 others(11): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43416349 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(124): Show |
a0001a0006a0013others(1): Show | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(124): Show | 127 | 306 | 0.4150 | 1 | c.428 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43416524 | C | CT | intron_variant | MODIFIER | HG02258.hp1 HG02895.hp1 HG02970.hp2 others(3): Show |
a0001a0008 | a0001c0002a0001c0003a0001c0022others(1): Show | a0001c0002t0001a0001c0003t0004a0001c0022t0001others(2): Show | a0001c0002t0001g0144a0001c0002t0001g0196a0001c0003t0004g0306others(3): Show | 6 | 306 | 0.0196 | 1 | c.428 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43418321 | G | GT | intron_variant | MODIFIER | HG01192.hp2 HG02055.hp1 HG02257.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0039a0001c0003t0001g0129a0001c0003t0001g0130others(4): Show | 7 | 306 | 0.0229 | 1 | c.428 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43424567 | T | TG | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG01891.hp2 others(20): Show |
a0002a0016 | a0002c0004a0002c0020a0002c0026others(2): Show | a0002c0004t0001a0002c0004t0002a0002c0020t0001others(3): Show | a0002c0004t0001g0015a0002c0004t0001g0251a0002c0004t0001g0252others(20): Show | 23 | 306 | 0.0752 | 1 | c.428 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43426362 | T | TA | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02451.hp1 others(4): Show |
a0003a0007a0010 | a0003c0007a0007c0013a0010c0030 | a0003c0007t0001a0007c0013t0001a0010c0030t0001 | a0003c0007t0001g0076a0003c0007t0001g0152a0003c0007t0001g0153others(4): Show | 7 | 306 | 0.0229 | 1 | c.410 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 27/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43427532 | T | TA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG01106.hp1 others(50): Show |
a0001a0004a0009others(3): Show | a0001c0002a0001c0003a0001c0005others(7): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(9): Show | a0001c0002t0001g0196a0001c0003t0001g0008a0001c0003t0001g0010others(50): Show | 53 | 306 | 0.1732 | 1 | c.394 others(8): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 26/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43430143 | T | TA | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp2 HG00741.hp1 others(51): Show |
a0001a0005a0015 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0169a0001c0001t0002g0275a0001c0002t0001g0020others(51): Show | 54 | 306 | 0.1765 | 1 | c.338 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 23/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43432474 | T | TA | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00423.hp1 HG00438.hp2 others(102): Show |
a0001a0006a0013others(1): Show | a0001c0001a0001c0003a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(102): Show | 105 | 306 | 0.3431 | 1 | c.293 others(7): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 20/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43434535 | C | CT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(264): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(264): Show | 267 | 306 | 0.8726 | 1 | c.259 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 18/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43435047 | A | AC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(288): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(288): Show | 291 | 306 | 0.9510 | 1 | c.259 others(18): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 18/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43435641 | T | TA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00597.hp2 others(94): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(17): Show | a0001c0001t0001g0169a0001c0002t0001g0011a0001c0002t0001g0020others(94): Show | 97 | 306 | 0.3170 | 1 | c.259 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 18/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43440139 | C | CT | intron_variant | MODIFIER | HG00140.hp2 HG01106.hp2 HG01884.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0012a0002c0004others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0012t0001others(4): Show | a0001c0002t0001g0138a0001c0002t0001g0140a0001c0002t0002g0287others(10): Show | 13 | 306 | 0.0425 | 1 | c.229 others(8): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 16/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43441065 | C | CA | intron_variant | MODIFIER | HG02071.hp1 HG02630.hp2 HG02922.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0002 | a0001c0001t0001g0163a0001c0001t0001g0164a0001c0001t0001g0178others(4): Show | 7 | 306 | 0.0229 | 1 | c.229 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 16/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43441078 | C | CA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG01106.hp1 others(44): Show |
a0001a0004a0009others(3): Show | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(8): Show | a0001c0001t0001g0158a0001c0003t0001g0008a0001c0003t0001g0010others(44): Show | 47 | 306 | 0.1536 | 1 | c.229 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 16/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43442259 | C | CT | intron_variant | MODIFIER | HG00323.hp2 HG01106.hp1 HG01192.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0151a0001c0003t0001g0183a0001c0003t0001g0185others(5): Show | 8 | 306 | 0.0261 | 1 | c.229 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 16/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43447183 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(129): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(129): Show | 132 | 306 | 0.4314 | 1 | c.208 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 14/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43448159 | C | CA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0009t0001others(1): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(33): Show | 36 | 306 | 0.1177 | 1 | c.208 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 14/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43455235 | A | AT | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02451.hp1 others(6): Show |
a0001a0003a0007others(1): Show | a0001c0009a0003c0007a0007c0013others(1): Show | a0001c0009t0001a0003c0007t0001a0007c0013t0001others(1): Show | a0001c0009t0001g0192a0001c0009t0001g0195a0003c0007t0001g0076others(6): Show | 9 | 306 | 0.0294 | 1 | c.161 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460898 | T | TA | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp2 others(56): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0005a0006c0008t0001 | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0025others(56): Show | 59 | 306 | 0.1928 | 1 | c.161 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460989 | T | TA | intron_variant | MODIFIER | HG03471.hp1 HG03688.hp2 NA18961.hp2 |
a0001 | a0001c0003a0001c0005a0001c0022 | a0001c0003t0001a0001c0005t0001a0001c0022t0001 | a0001c0003t0001g0149a0001c0005t0001g0247a0001c0022t0001g0215 | 3 | 306 | 0.0098 | 1 | c.161 others(20): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43469620 | C | CA | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp2 HG02145.hp1 others(20): Show |
a0001a0008a0011 | a0001c0002a0001c0003a0008c0015others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(4): Show | a0001c0002t0001g0198a0001c0002t0001g0199a0001c0002t0002g0277others(20): Show | 23 | 306 | 0.0752 | 1 | c.111 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 7/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43474534 | C | CA | 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.111 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 7/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43485094 | C | CA | intron_variant | MODIFIER | HG01346.hp2 HG01884.hp1 HG02258.hp2 others(5): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0007 | a0001c0002t0002a0001c0003t0001a0003c0007t0001 | a0001c0002t0002g0298a0001c0003t0001g0200a0001c0003t0001g0205others(5): Show | 8 | 306 | 0.0261 | 1 | c.111 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 7/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43485109 | A | AG | intron_variant | MODIFIER | HG01516.hp1 HG01928.hp1 HG01952.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0046others(3): Show | 6 | 306 | 0.0196 | 1 | c.111 others(20): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 7/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43486748 | T | TA | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp2 HG02257.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0198a0001c0002t0001g0199a0001c0002t0002g0292others(9): Show | 12 | 306 | 0.0392 | 1 | c.111 others(10): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 7/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43492379 | C | CA | intron_variant | MODIFIER | HG00323.hp2 HG01106.hp1 HG01192.hp1 others(16): Show |
a0001a0012 | a0001c0002a0001c0003a0012c0024 | a0001c0002t0002a0001c0003t0001a0001c0003t0004others(1): Show | a0001c0002t0002g0277a0001c0003t0001g0008a0001c0003t0001g0010others(16): Show | 19 | 306 | 0.0621 | 1 | c.107 others(9): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 6/38 | chr12 | TogoVar |