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 | 43436496 | G | GATC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(287): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(287): Show | 290 | 306 | 0.9477 | 3 | c.259 others(22): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 18/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460982 | A | ATTT | intron_variant | MODIFIER | HG00642.hp1 HG01358.hp2 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0081 | 3 | 306 | 0.0098 | 3 | c.161 others(22): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460984 | A | ATTT | intron_variant | MODIFIER | HG01255.hp1 HG01256.hp1 HG01981.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051a0001c0002t0001g0052a0001c0002t0001g0053 | 3 | 306 | 0.0098 | 3 | c.161 others(22): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43485112 | G | GCAA | intron_variant | MODIFIER | HG00558.hp1 HG02630.hp2 HG02738.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0084a0001c0001t0001g0166a0001c0001t0001g0178others(6): Show | 9 | 306 | 0.0294 | 3 | c.111 others(22): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 7/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501055 | C | CTTT | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02451.hp1 others(3): Show |
a0003a0010a0011 | a0003c0007a0010c0030a0011c0029 | a0003c0007t0001a0010c0030t0001a0011c0029t0002 | a0003c0007t0001g0076a0003c0007t0001g0152a0003c0007t0001g0153others(3): Show | 6 | 306 | 0.0196 | 3 | c.867 others(20): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43506137 | A | AAAC | intron_variant | MODIFIER | HG00323.hp2 HG01106.hp1 HG01192.hp1 others(17): Show |
a0001a0010a0011others(1): Show | a0001c0003a0010c0030a0011c0029others(1): Show | a0001c0003t0001a0001c0003t0004a0010c0030t0001others(2): Show | a0001c0003t0001g0008a0001c0003t0001g0010a0001c0003t0001g0151others(17): Show | 20 | 306 | 0.0654 | 3 | c.614 others(20): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43524562 | C | CAAG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(250): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(30): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(250): Show | 253 | 306 | 0.8268 | 3 | c.613 others(20): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43528348 | C | CAAA | intron_variant | MODIFIER | HG00673.hp1 HG01169.hp2 HG01255.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0049a0001c0001t0001g0088a0001c0002t0001g0051others(3): Show | 6 | 306 | 0.0196 | 3 | c.613 others(20): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43532555 | G | GTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(93): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(5): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(93): Show | 96 | 306 | 0.3137 | 3 | c.454 others(18): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 2/38 | chr12 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179173212 | T | TTAA | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG01074.hp1 others(11): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0018others(9): Show | a0001c0001t0001a0001c0004t0004a0001c0018t0002others(9): Show | a0001c0001t0001g0100a0001c0004t0004g0196a0001c0018t0002g0161others(11): Show | 14 | 276 | 0.0507 | 3 | c.975 others(20): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 5/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179185671 | A | AGCC | intron_variant | MODIFIER | HG01934.hp2 HG02109.hp1 HG02451.hp1 others(6): Show |
a0001a0002a0004others(2): Show | a0001c0014a0001c0065a0002c0012others(4): Show | a0001c0014t0008a0001c0014t0013a0001c0065t0002others(6): Show | a0001c0014t0008g0065a0001c0014t0013g0112a0001c0065t0002g0118others(6): Show | 9 | 276 | 0.0326 | 3 | c.892 others(20): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179189510 | G | GCTT | intron_variant | MODIFIER | HG02723.hp2 HG03579.hp1 NA19084.hp2 |
a0001a0002 | a0001c0070a0002c0012a0002c0017 | a0001c0070t0001a0002c0012t0013a0002c0017t0004 | a0001c0070t0001g0084a0002c0012t0013g0071a0002c0017t0004g0158 | 3 | 276 | 0.0109 | 3 | c.892 others(20): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179200244 | C | CTTT | intron_variant | MODIFIER | HG01069.hp1 HG01243.hp2 HG01884.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0048others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(4): Show | a0001c0001t0001g0066a0001c0001t0001g0115a0001c0001t0004g0064others(5): Show | 8 | 276 | 0.0290 | 3 | c.891 others(20): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179201631 | C | CAAA | intron_variant | MODIFIER | HG00673.hp1 HG00735.hp1 HG01069.hp1 others(33): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0069others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(28): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0115others(33): Show | 36 | 276 | 0.1304 | 3 | c.891 others(20): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179205757 | G | GTTA | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01891.hp1 others(6): Show |
a0002a0003a0004others(5): Show | a0002c0002a0003c0003a0004c0039others(5): Show | a0002c0002t0002a0003c0003t0001a0004c0039t0007others(5): Show | a0002c0002t0002g0143a0003c0003t0001g0224a0004c0039t0007g0208others(6): Show | 9 | 276 | 0.0326 | 3 | c.891 others(20): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179214535 | T | TAAG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(48): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0014others(35): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(41): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0004g0122others(48): Show | 51 | 276 | 0.1848 | 3 | c.689 others(20): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179245286 | C | CGGA | intron_variant | MODIFIER | HG01069.hp1 HG01243.hp1 HG01884.hp2 others(17): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0052others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(16): Show | a0001c0001t0001g0066a0001c0001t0001g0115a0001c0001t0004g0064others(17): Show | 20 | 276 | 0.0725 | 3 | c.688 others(22): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179245765 | C | CAAA | intron_variant | MODIFIER | HG01258.hp1 HG02809.hp1 HG02976.hp2 others(4): Show |
a0001a0002a0006others(2): Show | a0001c0004a0001c0069a0002c0002others(3): Show | a0001c0004t0004a0001c0069t0002a0002c0002t0001others(3): Show | a0001c0004t0004g0144a0001c0069t0002g0046a0002c0002t0001g0052others(4): Show | 7 | 276 | 0.0254 | 3 | c.688 others(22): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179245778 | A | AAAC | intron_variant | MODIFIER | HG02300.hp2 HG02630.hp1 HG02895.hp1 others(5): Show |
a0001a0002a0003 | a0001c0004a0001c0014a0001c0048others(5): Show | a0001c0004t0004a0001c0014t0002a0001c0048t0004others(5): Show | a0001c0004t0004g0157a0001c0014t0002g0073a0001c0048t0004g0195others(5): Show | 8 | 276 | 0.0290 | 3 | c.688 others(22): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179245787 | A | AAAC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01071.hp2 others(27): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0004a0001c0018others(19): Show | a0001c0001t0004a0001c0004t0002a0001c0004t0026others(22): Show | a0001c0001t0004g0026a0001c0004t0002g0162a0001c0004t0026g0172others(27): Show | 30 | 276 | 0.1087 | 3 | c.688 others(22): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179277718 | A | ACCC | intron_variant | MODIFIER | HG02683.hp1 HG04115.hp1 NA18947.hp2 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0004a0002c0059a0003c0095others(3): Show | a0001c0004t0026a0002c0059t0001a0003c0095t0001others(3): Show | a0001c0004t0026g0172a0002c0059t0001g0002a0003c0095t0001g0239others(3): Show | 6 | 276 | 0.0217 | 3 | c.535 others(20): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179283549 | C | CAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(78): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0004a0001c0018others(45): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(60): Show | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0067others(78): Show | 81 | 276 | 0.2935 | 3 | c.535 others(22): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179283942 | G | GATT | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00609.hp2 others(59): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0018others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(40): Show | a0001c0001t0001g0009a0001c0001t0001g0049a0001c0001t0001g0054others(59): Show | 62 | 276 | 0.2246 | 3 | c.535 others(22): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179283945 | G | GATT | intron_variant | MODIFIER | HG00609.hp1 HG02280.hp2 HG02615.hp2 others(3): Show |
a0001a0002a0004others(3): Show | a0001c0074a0002c0002a0004c0006others(3): Show | a0001c0074t0004a0002c0002t0001a0004c0006t0001others(3): Show | a0001c0074t0004g0062a0002c0002t0001g0008a0004c0006t0001g0265others(3): Show | 6 | 276 | 0.0217 | 3 | c.535 others(22): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179300094 | C | CAAA | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02027.hp2 others(9): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0014others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(8): Show | a0001c0001t0001g0069a0001c0001t0004g0122a0001c0004t0001g0146others(9): Show | 12 | 276 | 0.0435 | 3 | c.535 others(22): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179324393 | C | CTTT | intron_variant | MODIFIER | HG00408.hp1 HG01167.hp2 HG01243.hp2 others(19): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0035others(16): Show | a0001c0001t0004a0001c0001t0013a0001c0004t0004others(18): Show | a0001c0001t0004g0081a0001c0001t0013g0021a0001c0004t0004g0144others(19): Show | 22 | 276 | 0.0797 | 3 | c.534 others(22): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179333596 | G | GTTT | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG01978.hp1 others(5): Show |
a0001a0002a0013 | a0001c0001a0001c0004a0001c0075others(4): Show | a0001c0001t0001a0001c0004t0002a0001c0075t0020others(4): Show | a0001c0001t0001g0007a0001c0004t0002g0005a0001c0075t0020g0074others(5): Show | 8 | 276 | 0.0290 | 3 | c.534 others(22): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179341729 | A | AAAG | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00558.hp2 others(55): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0004a0001c0018others(26): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(35): Show | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0004t0001g0146others(55): Show | 58 | 276 | 0.2101 | 3 | c.534 others(20): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179345258 | G | GGCA | conservative_inframe_insertion | MODERATE | HG00408.hp1 HG00609.hp1 HG00621.hp1 others(70): Show |
a0003a0004a0007others(11): Show | a0003c0003a0003c0095a0003c0096others(29): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(37): Show | a0003c0003t0001g0224a0003c0003t0001g0225a0003c0003t0001g0231others(70): Show | 73 | 276 | 0.2645 | 3 | c.68_ others(8): Show |
p.Leu others(5): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 1/22 | 203/6783 | 70/3636 | 24/1211 | chr5 | TogoVar | ||
ADAMTS3_chr4_72275969_72574221 | 72285366 | C | CTCT | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02486.hp2 others(4): Show |
a0001a0003a0005 | a0001c0001a0003c0005a0003c0008others(1): Show | a0001c0001t0026a0003c0005t0006a0003c0005t0024others(3): Show | a0001c0001t0026g0162a0003c0005t0006g0076a0003c0005t0006g0151others(4): Show | 7 | 182 | 0.0385 | 3 | c.305 others(22): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 21/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72316692 | A | AAAT | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02965.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0005 | a0001c0001t0029a0001c0006t0001a0001c0006t0005others(1): Show | a0001c0001t0029g0160a0001c0006t0001g0157a0001c0006t0005g0007others(1): Show | 4 | 182 | 0.0220 | 3 | c.148 others(20): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 10/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72316705 | A | AATG | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG00741.hp1 others(50): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0089a0001c0001t0001g0092a0001c0001t0001g0093others(50): Show | 53 | 182 | 0.2912 | 3 | c.148 others(20): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 10/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72333848 | C | CTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(116): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0017others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0071a0001c0001t0001g0077a0001c0001t0001g0083others(116): Show | 119 | 182 | 0.6539 | 3 | c.861 others(20): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 5/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72401566 | C | CAAA | intron_variant | MODIFIER | HG02559.hp1 HG02615.hp2 HG03516.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0075a0001c0001t0001g0077a0001c0001t0002g0042others(5): Show | 8 | 182 | 0.0440 | 3 | c.661 others(22): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72457848 | T | TTTG | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00741.hp1 others(30): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0073a0001c0001t0001g0106a0001c0001t0001g0107others(30): Show | 33 | 182 | 0.1813 | 3 | c.505 others(22): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72523969 | A | ATTG | intron_variant | MODIFIER | HG01167.hp1 HG02559.hp2 HG03041.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0007a0001c0003t0007 | a0001c0001t0001g0083a0001c0001t0001g0093a0001c0001t0001g0171others(2): Show | 5 | 182 | 0.0275 | 3 | c.504 others(22): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72530773 | T | TATA | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00639.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0003g0021others(40): Show | 43 | 182 | 0.2363 | 3 | c.504 others(22): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72549962 | A | AAAG | intron_variant | MODIFIER | HG00639.hp2 HG01255.hp2 HG01496.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0002c0002t0001g0096a0002c0002t0001g0121a0002c0002t0001g0122others(6): Show | 9 | 182 | 0.0495 | 3 | c.98- others(18): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72550111 | A | AGAG | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0078a0002c0002t0001g0079 | 2 | 182 | 0.0110 | 3 | c.98- others(18): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
ADAMTS4_chr1_161179302_161204054 | 161183467 | A | ATTT | downstream_gene_variant | MODIFIER | HG00558.hp2 HG01891.hp1 HG01891.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(12): Show | a0001c0001t0005g0067a0001c0001t0006g0006a0001c0001t0007g0016others(13): Show | 21 | 374 | 0.0562 | 3 | c.*76 others(14): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 834 | chr1 | TogoVar | ||||||
ADAMTS5_chr21_26912922_26972088 | 26935107 | T | TTAA | intron_variant | MODIFIER | NA18955.hp2 NA18999.hp1 NA19081.hp1 |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0015a0002c0002t0061a0005c0007t0020 | a0002c0002t0015g0236a0002c0002t0061g0284a0005c0007t0020g0059 | 3 | 398 | 0.0075 | 3 | c.140 others(20): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 3/7 | chr21 | TogoVar | ||||||
ADAMTS5_chr21_26912922_26972088 | 26963641 | C | CAAA | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01071.hp2 others(5): Show |
a0001a0004a0012 | a0001c0001a0001c0006a0004c0004others(1): Show | a0001c0001t0056a0001c0006t0057a0004c0004t0005others(2): Show | a0001c0001t0056g0225a0001c0006t0057g0224a0004c0004t0005g0101others(5): Show | 8 | 398 | 0.0201 | 3 | c.110 others(22): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 1/7 | chr21 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65160653 | A | ATTT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00741.hp1 others(90): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0019others(90): Show | 93 | 204 | 0.4559 | 3 | c.324 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 24/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65196522 | C | CAAA | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp1 HG01071.hp1 others(24): Show |
a0001 | a0001c0001a0001c0008a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0035others(24): Show | 27 | 204 | 0.1324 | 3 | c.270 others(20): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 21/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65213260 | A | ATCT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00735.hp2 others(148): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(148): Show | 151 | 204 | 0.7402 | 3 | c.257 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 20/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65230620 | C | CATG | intron_variant | MODIFIER | HG00735.hp2 HG01071.hp2 HG01081.hp1 others(33): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0030a0001c0001t0001g0036a0001c0001t0001g0038others(33): Show | 36 | 204 | 0.1765 | 3 | c.193 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65230620 | C | CATT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG01074.hp1 others(80): Show |
a0001 | a0001c0001a0001c0008a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(80): Show | 83 | 204 | 0.4069 | 3 | c.193 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65230644 | C | CATG | intron_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG02280.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0168a0001c0001t0001g0169a0001c0001t0002g0123others(8): Show | 11 | 204 | 0.0539 | 3 | c.193 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65230644 | C | CATT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG01074.hp1 others(82): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(82): Show | 85 | 204 | 0.4167 | 3 | c.193 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65230668 | C | CATT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG01074.hp1 others(80): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(80): Show | 83 | 204 | 0.4069 | 3 | c.193 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar |