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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM12_chr10_126007391_126393477 | 126138823 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG01099.hp1 HG01109.hp2 others(64): Show |
a0001a0002a0006others(2): Show | a0001c0002a0001c0003a0001c0004others(17): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(43): Show | a0001c0002t0001g0042a0001c0002t0001g0217a0001c0002t0002g0022others(64): Show | 67 | 252 | 0.2659 | 5 | c.340 others(22): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 4/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126159307 | C | CAAAAA | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG01099.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0006a0001c0002t0008a0001c0002t0011others(13): Show | a0001c0002t0006g0016a0001c0002t0008g0201a0001c0002t0011g0178others(16): Show | 19 | 252 | 0.0754 | 5 | c.261 others(22): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126174008 | A | ATTTTT | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02559.hp2 others(8): Show |
a0001a0002 | a0001c0002a0001c0019a0001c0020others(4): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0008others(7): Show | a0001c0002t0002g0022a0001c0002t0002g0186a0001c0002t0006g0252others(8): Show | 11 | 252 | 0.0437 | 5 | c.261 others(24): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126187326 | T | TAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(97): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0003a0001c0004others(32): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(68): Show | a0001c0002t0001g0044a0001c0002t0001g0065a0001c0002t0001g0066others(97): Show | 100 | 252 | 0.3968 | 5 | c.261 others(24): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126193904 | G | GAAATA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(58): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0003a0001c0004others(20): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(42): Show | a0001c0002t0001g0044a0001c0002t0001g0065a0001c0002t0001g0066others(58): Show | 61 | 252 | 0.2421 | 5 | c.261 others(24): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126206854 | T | TGCGGG | intron_variant | MODIFIER | HG00673.hp1 HG01071.hp1 HG01175.hp2 others(11): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0001c0008others(8): Show | a0001c0002t0001a0001c0002t0005a0001c0003t0007others(10): Show | a0001c0002t0001g0220a0001c0002t0005g0251a0001c0003t0007g0087others(11): Show | 14 | 252 | 0.0556 | 5 | c.261 others(24): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126212546 | C | CTTTAT | intron_variant | MODIFIER | HG01346.hp1 HG01358.hp2 HG01517.hp2 others(8): Show |
a0001a0002a0005others(2): Show | a0001c0003a0001c0010a0002c0001others(3): Show | a0001c0003t0010a0001c0010t0001a0002c0001t0001others(7): Show | a0001c0003t0010g0137a0001c0010t0001g0218a0002c0001t0001g0223others(8): Show | 11 | 252 | 0.0437 | 5 | c.261 others(24): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126237331 | T | TTATTC | intron_variant | MODIFIER | HG02027.hp1 HG02886.hp2 NA18942.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0010others(1): Show | a0001c0002t0039a0001c0004t0011a0001c0010t0002others(1): Show | a0001c0002t0039g0160a0001c0004t0011g0177a0001c0010t0002g0128others(1): Show | 4 | 252 | 0.0159 | 5 | c.260 others(24): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126338246 | A | ATTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00597.hp1 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0008others(17): Show | a0001c0002t0001g0044a0001c0002t0001g0097a0001c0002t0002g0031others(25): Show | 28 | 252 | 0.1111 | 5 | c.89- others(20): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 1/22 | chr10 | TogoVar | ||||||
ADAM17_chr2_9483486_9560830 | 9520964 | C | CAAAAA | intron_variant | MODIFIER | HG01361.hp1 HG01361.hp2 HG01496.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028a0001c0001t0052 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0017others(2): Show | 5 | 234 | 0.0214 | 5 | c.957 others(20): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 8/18 | chr2 | TogoVar | ||||||
ADAM17_chr2_9483486_9560830 | 9521840 | T | TCTTCC | intron_variant | MODIFIER | HG00639.hp2 HG02622.hp2 HG02647.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0001t0033others(3): Show | a0001c0001t0001g0038a0001c0001t0012g0110a0001c0001t0012g0113others(6): Show | 9 | 234 | 0.0385 | 5 | c.844 others(20): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 7/18 | chr2 | TogoVar | ||||||
ADAM17_chr2_9483486_9560830 | 9527283 | C | CAAACA | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG02055.hp2 others(10): Show |
a0002a0005 | a0002c0003a0005c0010 | a0002c0003t0026a0002c0003t0039a0002c0003t0040others(9): Show | a0002c0003t0026g0061a0002c0003t0026g0063a0002c0003t0039g0056others(10): Show | 13 | 234 | 0.0556 | 5 | c.619 others(20): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 5/18 | chr2 | TogoVar | ||||||
ADAM17_chr2_9483486_9560830 | 9527283 | C | CAAAGA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(74): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(74): Show | 77 | 234 | 0.3291 | 5 | c.619 others(20): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 5/18 | chr2 | TogoVar | ||||||
ADAM17_chr2_9483486_9560830 | 9537876 | A | AGAGGG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(70): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(22): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(70): Show | 73 | 234 | 0.3120 | 5 | c.231 others(22): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 2/18 | chr2 | TogoVar | ||||||
ADAM18_chr8_39579568_39735065 | 39701117 | C | CAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00621.hp2 others(30): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0001a0003c0004t0001 | a0001c0001t0001g0163a0001c0001t0001g0165a0001c0001t0001g0168others(30): Show | 33 | 347 | 0.0951 | 5 | c.190 others(24): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM19_chr5_157472304_157580775 | 157504843 | A | AGCCGG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(138): Show |
a0001a0002a0004others(7): Show | a0001c0001a0002c0002a0002c0014others(9): Show | a0001c0001t0027a0002c0002t0001a0002c0002t0002others(36): Show | a0001c0001t0027g0102a0002c0002t0001g0086a0002c0002t0002g0047others(134): Show | 141 | 310 | 0.4548 | 5 | c.113 others(22): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 11/22 | chr5 | TogoVar | ||||||
ADAM19_chr5_157472304_157580775 | 157522308 | C | CTTTTA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(187): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0019a0002c0002others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0048a0001c0001t0001g0075a0001c0001t0001g0156others(181): Show | 190 | 310 | 0.6129 | 5 | c.408 others(22): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 5/22 | chr5 | TogoVar | ||||||
ADAM20_chr14_70517358_70540004 | 70520668 | T | TAACAC | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01433.hp2 HG01496.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0019a0001c0001t0001g0025others(2): Show | 19 | 400 | 0.0475 | 5 | c.*19 others(16): Show |
ADAM20 | ENSG00000134007.5 | transcript | ENST00000256389.5 | protein_coding | 1689 | chr14 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 87966721 | G | GTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG01071.hp2 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0012a0001c0001t0001g0025a0001c0001t0001g0026others(31): Show | 34 | 230 | 0.1478 | 5 | c.247 others(24): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADAM22_chr7_87929251_88207889 | 87967807 | C | CAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG00738.hp2 others(43): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0018a0001c0019others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0039a0001c0001t0001g0060others(43): Show | 46 | 230 | 0.2000 | 5 | c.247 others(24): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADAM22_chr7_87929251_88207889 | 88039464 | A | ATATAT | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02809.hp1 others(5): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002a0003c0003t0005others(2): Show | a0003c0003t0001g0046a0003c0003t0001g0051a0003c0003t0001g0142others(5): Show | 8 | 230 | 0.0348 | 5 | c.324 others(24): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | chr7 | TogoVar | ||||||
ADAM28_chr8_24289069_24364014 | 24297159 | G | GTTTTT | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02572.hp1 others(4): Show |
a0003 | a0003c0006 | a0003c0006t0001a0003c0006t0002a0003c0006t0013 | a0003c0006t0001g0279a0003c0006t0002g0275a0003c0006t0002g0276others(4): Show | 7 | 348 | 0.0201 | 5 | c.47- others(20): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM28_chr8_24289069_24364014 | 24305451 | C | CTTTTT | intron_variant | MODIFIER | HG02071.hp2 HG03491.hp1 HG03492.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0033 | a0001c0002t0001a0002c0003t0002a0002c0003t0003others(1): Show | a0001c0002t0001g0027a0002c0003t0002g0265a0002c0003t0003g0014others(2): Show | 6 | 348 | 0.0172 | 5 | c.151 others(22): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM28_chr8_24289069_24364014 | 24358935 | A | AAAACT | 3_prime_UTR_variant | MODIFIER | NA18971.hp2 NA18986.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0106a0001c0001t0011g0117a0001c0001t0011g0119 | 3 | 348 | 0.0086 | 5 | c.*45 others(16): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 23/23 | 4538 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
ADAM29_chr4_174913358_174983180 | 174928569 | T | TTAAAA | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp2 HG02630.hp2 others(13): Show |
a0001a0004a0005 | a0001c0001a0001c0009a0001c0016others(3): Show | a0001c0001t0002a0001c0009t0013a0001c0016t0002others(3): Show | a0001c0001t0002g0028a0001c0001t0002g0036a0001c0001t0002g0038others(11): Show | 16 | 330 | 0.0485 | 5 | c.-45 others(24): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
ADAM29_chr4_174913358_174983180 | 174955661 | C | CTTATT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(150): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0102a0001c0001t0001g0133a0001c0001t0001g0140others(122): Show | 153 | 330 | 0.4636 | 5 | c.-18 others(26): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADAM2_chr8_39738735_39843227 | 39834732 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00639.hp1 others(58): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0012others(50): Show | 61 | 329 | 0.1854 | 5 | c.133 others(20): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 2/20 | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39130956 | C | CTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0144a0001c0001t0001g0146a0001c0001t0001g0157others(40): Show | 43 | 257 | 0.1673 | 5 | c.139 others(22): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM32_chr8_39102734_39289917 | 39231379 | G | GGGATT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(254): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0002c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(252): Show | 257 | 257 | 1.0000 | 5 | c.152 others(22): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 14/24 | chr8 | TogoVar | ||||||
ADAM33_chr20_3662975_3687010 | 3679136 | C | CTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG01928.hp1 HG01952.hp2 others(16): Show |
a0000a0001a0002others(2): Show | a0000c0039a0000c0045a0001c0001others(7): Show | a0000c0039t0007a0000c0045t0034a0001c0001t0001others(11): Show | a0000c0039t0007g0303a0000c0045t0034g0348a0001c0001t0001g0057others(16): Show | 19 | 462 | 0.0411 | 5 | c.177 others(20): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 2/21 | chr20 | TogoVar | ||||||
ADAM7_chr8_24436026_24514565 | 24443939 | A | AAAAAT | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01361.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0010t0001others(1): Show | a0001c0001t0002g0032a0001c0001t0002g0046a0001c0001t0002g0048others(10): Show | 15 | 360 | 0.0417 | 5 | c.156 others(22): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM7_chr8_24436026_24514565 | 24479361 | T | TTTTTG | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02055.hp1 others(3): Show |
a0001a0002 | a0001c0002a0001c0028a0002c0003 | a0001c0002t0001a0001c0028t0001a0002c0003t0001 | a0001c0002t0001g0025a0001c0002t0001g0144a0001c0002t0001g0145others(2): Show | 6 | 360 | 0.0167 | 5 | c.706 others(22): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM7_chr8_24436026_24514565 | 24487369 | G | GGTGCA | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02055.hp1 others(2): Show |
a0001 | a0001c0002a0001c0028 | a0001c0002t0001a0001c0028t0001 | a0001c0002t0001g0025a0001c0002t0001g0144a0001c0002t0001g0145others(1): Show | 5 | 360 | 0.0139 | 5 | c.109 others(20): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM7_chr8_24436026_24514565 | 24504023 | A | AAAAAT | intron_variant | MODIFIER | HG02630.hp1 NA18612.hp1 NA18747.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0002t0001 | a0001c0001t0002g0023a0001c0001t0002g0075a0001c0001t0002g0185others(9): Show | 13 | 360 | 0.0361 | 5 | c.220 others(24): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM8_chr10_133257423_133281868 | 133261691 | T | TGGGGG | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(157): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0002a0001c0007others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(76): Show | 160 | 386 | 0.4145 | 5 | c.*14 others(16): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 731 | chr10 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 39009962 | A | AAAAAC | intron_variant | MODIFIER | HG01081.hp1 HG02647.hp2 NA18987.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0001 | a0001c0001t0001g0327a0001c0001t0004g0332a0001c0003t0001g0290 | 3 | 332 | 0.0090 | 5 | c.196 others(22): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM9_chr8_38991973_39110261 | 39014824 | C | CTTTAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(274): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(274): Show | 277 | 332 | 0.8343 | 5 | c.333 others(20): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM9_chr8_38991973_39110261 | 39037458 | G | GTGTGT | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG01257.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0013others(9): Show | 12 | 332 | 0.0361 | 5 | c.113 others(24): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAMTS10_chr19_8575240_8615715 | 8581130 | C | CTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG02055.hp2 HG02280.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0003g0090a0001c0001t0003g0123a0001c0001t0004g0329others(4): Show | 7 | 384 | 0.0182 | 5 | c.320 others(22): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 25/25 | chr19 | TogoVar | ||||||
ADAMTS10_chr19_8575240_8615715 | 8615692 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01106.hp2 others(16): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0186a0001c0001t0001g0200others(16): Show | 19 | 384 | 0.0495 | 5 | c.-52 others(16): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 4978 | chr19 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33607216 | C | CCAATG | intron_variant | MODIFIER | HG00323.hp2 HG01081.hp1 HG01123.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0008t0005others(4): Show | a0001c0001t0001g0135a0001c0001t0001g0155a0001c0001t0003g0136others(7): Show | 10 | 224 | 0.0446 | 5 | c.252 others(24): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 16/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33655628 | T | TATTTA | intron_variant | MODIFIER | HG01109.hp2 HG02257.hp2 HG02258.hp2 others(5): Show |
a0001a0008a0009others(3): Show | a0001c0001a0001c0025a0001c0028others(5): Show | a0001c0001t0001a0001c0025t0012a0001c0028t0001others(5): Show | a0001c0001t0001g0128a0001c0025t0012g0217a0001c0028t0001g0189others(5): Show | 8 | 224 | 0.0357 | 5 | c.119 others(24): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 7/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33705678 | T | TGGGCA | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02965.hp2 others(2): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0009a0003c0005others(2): Show | a0001c0001t0003a0002c0009t0001a0003c0005t0007others(2): Show | a0001c0001t0003g0104a0002c0009t0001g0211a0003c0005t0007g0040others(2): Show | 5 | 224 | 0.0223 | 5 | c.635 others(24): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33730289 | G | GTGTGT | intron_variant | MODIFIER | HG03239.hp2 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0186a0001c0001t0004g0055 | 2 | 224 | 0.0089 | 5 | c.634 others(24): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33832942 | T | TTTAAA | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp1 HG02809.hp2 others(2): Show |
a0001a0004 | a0001c0001a0001c0050a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0050t0005others(2): Show | a0001c0001t0001g0196a0001c0001t0004g0053a0001c0050t0005g0202others(2): Show | 5 | 224 | 0.0223 | 5 | c.489 others(24): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33872546 | G | GAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00621.hp1 others(29): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0003a0001c0036others(16): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(18): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0013others(29): Show | 32 | 224 | 0.1429 | 5 | c.489 others(22): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ADAMTS13_chr9_133417367_133464386 | 133438910 | C | CAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01928.hp1 HG01978.hp1 others(6): Show |
a0002 | a0002c0002a0002c0006a0002c0052 | a0002c0002t0001a0002c0006t0001a0002c0052t0001 | a0002c0002t0001g0076a0002c0002t0001g0080a0002c0002t0001g0088others(6): Show | 9 | 364 | 0.0247 | 5 | c.170 others(22): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTS13_chr9_133417367_133464386 | 133447294 | C | CTCTTT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp2 others(133): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0001c0010others(27): Show | a0001c0001t0001a0001c0005t0001a0001c0010t0001others(27): Show | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0026others(117): Show | 136 | 364 | 0.3736 | 5 | c.273 others(24): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTS13_chr9_133417367_133464386 | 133460238 | C | CGCCCT | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG04204.hp2 |
a0001a0002 | a0001c0001a0001c0011a0002c0040 | a0001c0001t0001a0001c0011t0001a0002c0040t0001 | a0001c0001t0001g0139a0001c0011t0001g0216a0002c0040t0001g0302 | 3 | 364 | 0.0082 | 5 | c.*10 others(16): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 853 | chr9 | TogoVar | ||||||
ADAMTS13_chr9_133417367_133464386 | 133460248 | T | TGCCCC | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02630.hp2 others(3): Show |
a0005a0010a0015 | a0005c0007a0010c0015a0015c0020 | a0005c0007t0001a0010c0015t0001a0015c0020t0001 | a0005c0007t0001g0282a0010c0015t0001g0022a0010c0015t0001g0067others(2): Show | 6 | 364 | 0.0165 | 5 | c.*10 others(16): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 863 | chr9 | TogoVar |