view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS2_chr5_179105853_179350461 | 179205757 | G | GTTA | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01891.hp1 others(6): Show |
a0002a0003a0005others(3): Show | a0002c0003a0002c0039a0002c0104others(5): Show | a0002c0003t0001a0002c0039t0007a0002c0104t0027others(5): Show | a0002c0003t0001g0224 a0002c0039t0007g0210 a0002c0104t0027g0221 others(6): Show |
9 | 78 | 0.1154 | 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(8): Show | a0001c0001a0001c0004a0001c0014others(35): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(41): Show | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0004g0122 others(48): Show |
51 | 274 | 0.1861 | 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(1): Show | a0001c0001a0001c0004a0001c0052others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(16): Show | a0001c0001t0001g0064 a0001c0001t0001g0115 a0001c0001t0004g0066 others(17): Show |
20 | 274 | 0.0730 | 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 |
a0001a0003a0005others(2): Show | a0001c0004a0001c0069a0003c0002others(3): Show | a0001c0004t0004a0001c0069t0002a0003c0002t0001others(3): Show | a0001c0004t0004g0144 a0001c0069t0002g0044 a0003c0002t0001g0049 others(4): Show |
7 | 152 | 0.0461 | 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 | a0001c0004t0004g0157 a0001c0014t0002g0072 a0001c0048t0004g0195 others(5): Show |
8 | 265 | 0.0302 | 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(26): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0018others(18): Show | a0001c0001t0004a0001c0004t0002a0001c0004t0026others(21): Show | a0001c0001t0004g0027 a0001c0004t0002g0162 a0001c0004t0026g0181 others(26): Show |
29 | 235 | 0.1234 | 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(1): Show | a0001c0004a0002c0016a0002c0095others(3): Show | a0001c0004t0026a0002c0016t0002a0002c0095t0001others(3): Show | a0001c0004t0026g0181 a0002c0016t0002g0263 a0002c0095t0001g0253 others(3): Show |
6 | 236 | 0.0254 | 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(12): Show | a0001c0001a0001c0004a0001c0018others(45): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(60): Show | a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0065 others(78): Show |
81 | 120 | 0.6750 | 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(9): Show | a0001c0001a0001c0004a0001c0018others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(40): Show | a0001c0001t0001g0009 a0001c0001t0001g0047 a0001c0001t0001g0052 others(59): Show |
62 | 174 | 0.3563 | 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 |
a0001a0002a0003others(3): Show | a0001c0074a0002c0006a0003c0002others(3): Show | a0001c0074t0004a0002c0006t0001a0003c0002t0001others(3): Show | a0001c0074t0004g0061 a0002c0006t0001g0264 a0003c0002t0001g0008 others(3): Show |
6 | 97 | 0.0619 | 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(2): Show | a0001c0001a0001c0004a0001c0014others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(8): Show | a0001c0001t0001g0068 a0001c0001t0004g0122 a0001c0004t0001g0146 others(9): Show |
12 | 99 | 0.1212 | 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(5): Show | a0001c0001a0001c0004a0001c0035others(16): Show | a0001c0001t0004a0001c0001t0013a0001c0004t0004others(18): Show | a0001c0001t0004g0091 a0001c0001t0013g0019 a0001c0004t0004g0144 others(19): Show |
22 | 129 | 0.1705 | 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 |
a0001a0003a0012 | a0001c0001a0001c0004a0001c0075others(4): Show | a0001c0001t0001a0001c0004t0002a0001c0075t0020others(4): Show | a0001c0001t0001g0007 a0001c0004t0002g0005 a0001c0075t0020g0073 others(5): Show |
8 | 137 | 0.0584 | 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 |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0018others(26): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(35): Show | a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0004t0001g0146 others(55): Show |
58 | 153 | 0.3791 | 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(69): Show |
a0002a0006a0021 | a0002c0003a0002c0005a0002c0006others(28): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(36): Show | a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0230 others(69): Show |
72 | 271 | 0.2657 | 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 |
a0001a0003a0009 | a0001c0001a0003c0005a0003c0008others(1): Show | a0001c0001t0006a0003c0005t0003a0003c0005t0023others(2): Show | a0001c0001t0006g0109 a0003c0005t0003g0014 a0003c0005t0003g0099 others(4): Show |
7 | 180 | 0.0389 | 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 | a0001c0001t0017a0001c0006t0001a0003c0005t0023 | a0001c0001t0017g0108 a0001c0006t0001g0030 a0001c0006t0001g0098 others(1): Show |
4 | 180 | 0.0222 | 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(49): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0038 others(49): Show |
52 | 180 | 0.2889 | 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 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0021 others(116): Show |
119 | 122 | 0.9754 | 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 | a0001c0001t0001a0001c0001t0008a0001c0001t0019others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0142 others(5): Show |
8 | 45 | 0.1778 | 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 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0028 others(30): Show |
33 | 180 | 0.1833 | 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 | a0001c0001t0001a0001c0001t0004a0001c0003t0004 | a0001c0001t0001g0021 a0001c0001t0001g0041 a0001c0001t0001g0114 others(2): Show |
5 | 180 | 0.0278 | 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 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0056 others(40): Show |
43 | 180 | 0.2389 | 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 | a0002c0002t0001a0002c0002t0002a0002c0002t0024 | a0002c0002t0001g0043 a0002c0002t0001g0066 a0002c0002t0001g0067 others(6): Show |
9 | 122 | 0.0738 | 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 | a0002c0002t0001g0016 a0002c0002t0001g0017 |
2 | 145 | 0.0138 | 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 | a0001c0001t0005g0067 a0001c0001t0006g0006 a0001c0001t0007g0017 others(13): Show |
21 | 107 | 0.1963 | 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 | a0002c0002t0004a0005c0007t0021 | a0002c0002t0004g0122 a0002c0002t0004g0123 a0005c0007t0021g0073 |
3 | 396 | 0.0076 | 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 |
a0001a0004a0013 | a0001c0001a0001c0006a0004c0004others(1): Show | a0001c0001t0005a0001c0006t0008a0004c0004t0005others(2): Show | a0001c0001t0005g0272 a0001c0006t0008g0271 a0004c0004t0005g0110 others(5): Show |
8 | 17 | 0.4706 | 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(89): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0019 others(89): Show |
92 | 155 | 0.5935 | 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 | a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0044 others(24): Show |
27 | 63 | 0.4286 | 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 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(148): Show |
151 | 202 | 0.7475 | 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 |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0038 others(33): Show |
36 | 111 | 0.3243 | 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 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(80): Show |
83 | 158 | 0.5253 | 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 | a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0002g0123 others(8): Show |
11 | 117 | 0.0940 | 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 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(82): Show |
85 | 191 | 0.4450 | 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 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(80): Show |
83 | 199 | 0.4171 | 3 | c.193 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65230692 | C | CATG | intron_variant | MODIFIER | HG02818.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0117 a0001c0001t0002g0124 |
2 | 120 | 0.0167 | 3 | c.193 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65230692 | C | CATT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG01074.hp2 others(50): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0018 others(50): Show |
53 | 171 | 0.3099 | 3 | c.193 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65230716 | C | CATT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG01074.hp2 others(44): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0018 others(44): Show |
47 | 198 | 0.2374 | 3 | c.193 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65239263 | T | TAAA | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01071.hp2 others(72): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 others(72): Show |
75 | 130 | 0.5769 | 3 | c.193 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65256986 | T | TCTC | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0141 a0001c0001t0003g0143 |
2 | 195 | 0.0103 | 3 | c.183 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 14/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65333997 | T | TAAA | intron_variant | MODIFIER | HG01256.hp1 HG01261.hp2 HG01884.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0102 others(6): Show |
9 | 109 | 0.0826 | 3 | c.111 others(18): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 8/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65339455 | C | CAAA | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG02486.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0019 a0001c0001t0001g0084 a0001c0001t0001g0167 others(6): Show |
9 | 149 | 0.0604 | 3 | c.107 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65381529 | A | ATTT | intron_variant | MODIFIER | HG01884.hp2 HG02080.hp1 HG02083.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 others(14): Show |
17 | 94 | 0.1809 | 3 | c.107 others(24): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65397487 | C | CATA | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00735.hp1 others(70): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0025 others(70): Show |
73 | 202 | 0.3614 | 3 | c.107 others(24): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65443622 | C | CAAA | intron_variant | MODIFIER | HG01081.hp2 HG01261.hp2 HG02280.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0100 a0001c0001t0001g0184 a0001c0001t0002g0171 others(2): Show |
5 | 58 | 0.0862 | 3 | c.107 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65452462 | T | TAAA | intron_variant | MODIFIER | HG00621.hp2 HG01081.hp2 HG01109.hp1 others(31): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0068 others(31): Show |
34 | 149 | 0.2282 | 3 | c.843 others(18): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 5/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65477763 | A | ATTT | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG02630.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0022 a0001c0001t0001g0117 a0001c0001t0001g0119 others(6): Show |
9 | 160 | 0.0563 | 3 | c.-28 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 1/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65486122 | C | CTTT | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG01106.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0016 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0073 others(10): Show |
13 | 99 | 0.1313 | 3 | c.-50 others(14): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 4203 | chr5 | TogoVar | |||||||
ADAMTS7_chr15_78754206_78816464 | 78806091 | A | ACAC | intron_variant | MODIFIER | HG01167.hp1 HG03486.hp2 HG03927.hp1 others(1): Show |
a0003a0004a0019 | a0003c0082a0004c0004a0019c0025 | a0003c0082t0001a0004c0004t0001a0019c0025t0001 | a0003c0082t0001g0312 a0004c0004t0001g0310 a0019c0025t0001g0055 others(1): Show |
4 | 326 | 0.0123 | 3 | c.100 others(20): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 1/23 | chr15 | TogoVar |