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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACY3_chr11_67637555_67655730 | 67638210 | A | AAAATAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 NA18970.hp1 NA18970.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0002c0002t0003 | a0001c0001t0001g0001 a0001c0001t0001g0120 a0001c0001t0007g0048 others(1): Show |
5 | 313 | 0.0160 | 8 | c.*45 others(19): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 4344 | chr11 | TogoVar | |||||||
ACYP1_chr14_75048243_75069024 | 75057964 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01192.hp2 HG01943.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(6): Show |
19 | 30 | 0.6333 | 8 | c.85- others(23): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 53967649 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00621.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0113 a0001c0001t0001g0114 others(26): Show |
29 | 85 | 0.3412 | 8 | c.-37 others(19): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 3463 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 53982828 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01109.hp2 HG01346.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0014others(1): Show | a0001c0001t0001g0105 a0001c0001t0001g0212 a0001c0001t0001g0258 others(5): Show |
8 | 58 | 0.1379 | 8 | c.62+ others(23): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 53995488 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(78): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(9): Show | a0001c0001t0001g0148 a0001c0001t0001g0259 a0001c0001t0004g0126 others(78): Show |
81 | 233 | 0.3476 | 8 | c.62+ others(25): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54039819 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG01358.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002 | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 others(14): Show |
17 | 49 | 0.3469 | 8 | c.63- others(25): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54052046 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(25): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(5): Show | a0001c0001t0001g0114 a0001c0001t0001g0135 a0001c0001t0001g0203 others(25): Show |
28 | 95 | 0.2947 | 8 | c.155 others(25): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54091489 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00621.hp2 others(35): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0135 a0001c0001t0001g0143 others(35): Show |
38 | 168 | 0.2262 | 8 | c.277 others(27): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54095030 | G | GCGGCCTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(56): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0135 a0001c0001t0001g0137 others(56): Show |
59 | 270 | 0.2185 | 8 | c.277 others(27): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54195794 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(48): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(8): Show | a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0001g0114 others(48): Show |
51 | 141 | 0.3617 | 8 | c.404 others(27): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54201594 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02572.hp1 NA18522.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0002 | a0001c0001t0001g0133 a0001c0001t0001g0230 a0001c0001t0010g0220 others(1): Show |
4 | 183 | 0.0219 | 8 | c.404 others(27): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54201636 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG01517.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0144 others(3): Show |
6 | 133 | 0.0451 | 8 | c.404 others(27): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54219821 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp1 others(58): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0113 a0001c0001t0001g0114 others(58): Show |
61 | 231 | 0.2641 | 8 | c.404 others(27): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54219881 | G | GTGTGTAT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00621.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0001t0001g0130 a0001c0001t0001g0148 a0001c0001t0001g0156 others(16): Show |
19 | 196 | 0.0969 | 8 | c.404 others(27): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54219881 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02735.hp1 HG02886.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0129 a0001c0002t0001g0106 a0001c0002t0002g0011 others(4): Show |
7 | 184 | 0.0380 | 8 | c.404 others(27): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54276619 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03490.hp1 NA18969.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0003others(1): Show | a0001c0001t0001g0155 a0001c0001t0004g0126 a0001c0001t0004g0127 others(2): Show |
5 | 47 | 0.1064 | 8 | c.405 others(27): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17184983 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02630.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0015a0001c0003t0015 | a0001c0001t0015g0034 a0001c0001t0015g0098 a0001c0001t0015g0217 others(2): Show |
5 | 205 | 0.0244 | 8 | c.108 others(27): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 7/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17200210 | A | AAACAAAC others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG01070.hp2 others(29): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0005 a0001c0001t0001g0079 a0001c0001t0001g0086 others(28): Show |
32 | 404 | 0.0792 | 8 | c.753 others(25): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17222578 | G | GTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(82): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0096 others(80): Show |
85 | 406 | 0.2094 | 8 | c.-32 others(19): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 3144 | chr22 | TogoVar | |||||||
ADAD1_chr4_122374011_122434784 | 122413851 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00673.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0033 a0001c0001t0001g0075 a0001c0001t0001g0076 others(14): Show |
18 | 36 | 0.5000 | 8 | c.124 others(27): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAL_chr15_43325672_43359569 | 43334633 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG02027.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001 | a0001c0001t0004g0133 a0001c0002t0001g0013 a0001c0002t0001g0199 |
7 | 21 | 0.3333 | 8 | c.-16 others(25): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58586912 | A | AGAGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG03239.hp1 NA18747.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0025others(2): Show | a0001c0001t0001g0128 a0001c0001t0001g0160 a0001c0001t0001g0165 others(7): Show |
10 | 237 | 0.0422 | 8 | c.*10 others(21): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1896 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58586912 | A | AGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00735.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0069 others(22): Show |
25 | 252 | 0.0992 | 8 | c.*10 others(21): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1896 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58586916 | A | AGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG01167.hp2 HG01169.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(15): Show | a0001c0001t0003g0188 a0001c0001t0003g0239 a0001c0001t0003g0249 others(27): Show |
30 | 53 | 0.5660 | 8 | c.*10 others(21): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1892 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58647248 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02027.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0129 a0001c0001t0001g0157 a0001c0001t0001g0158 others(3): Show |
6 | 13 | 0.4615 | 8 | c.586 others(25): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 5/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58655696 | G | GTGTGTAT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01891.hp2 HG02071.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0025others(2): Show | a0001c0001t0001g0100 a0001c0001t0001g0123 a0001c0001t0001g0164 others(5): Show |
8 | 202 | 0.0396 | 8 | c.585 others(25): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 5/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58685545 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00735.hp2 HG01952.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(2): Show | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0071 others(4): Show |
7 | 22 | 0.3182 | 8 | c.207 others(25): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58714292 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01515.hp1 HG01884.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(6): Show | a0001c0001t0004g0235 a0001c0001t0005g0212 a0001c0001t0005g0213 others(9): Show |
12 | 24 | 0.5000 | 8 | c.206 others(25): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58726567 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(9): Show | a0001c0001t0001g0111 a0001c0001t0001g0146 a0001c0001t0001g0149 others(32): Show |
35 | 43 | 0.8140 | 8 | c.56- others(23): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58750792 | A | AGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG02083.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0129 a0001c0001t0001g0146 a0001c0001t0002g0130 others(28): Show |
31 | 114 | 0.2719 | 8 | c.-12 others(19): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1086 | chr15 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126051572 | T | TCCAGCCA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01099.hp2 NA18989.hp1 others(2): Show |
a0001a0002 | a0001c0003a0001c0014a0002c0005 | a0001c0003t0004a0001c0003t0005a0001c0014t0004others(1): Show | a0001c0003t0004g0244 a0001c0003t0005g0227 a0001c0014t0004g0229 others(2): Show |
5 | 249 | 0.0201 | 8 | c.161 others(27): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 14/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126051576 | T | TCCAGCCA others(1): Show |
intron_variant | MODIFIER | HG01071.hp1 NA18962.hp2 NA18966.hp2 |
a0001a0002a0004 | a0001c0004a0002c0007a0004c0047 | a0001c0004t0001a0002c0007t0002a0004c0047t0006 | a0001c0004t0001g0237 a0002c0007t0002g0048 a0004c0047t0006g0165 |
3 | 229 | 0.0131 | 8 | c.161 others(27): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 14/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126051580 | T | TCCAGCCA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01255.hp1 HG02071.hp1 others(8): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0001c0008others(4): Show | a0001c0002t0002a0001c0002t0015a0001c0004t0002others(5): Show | a0001c0002t0002g0222 a0001c0002t0015g0088 a0001c0004t0002g0023 others(8): Show |
11 | 209 | 0.0526 | 8 | c.161 others(27): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 14/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126051588 | T | TCCAGCCA others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02717.hp1 HG02895.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0008a0001c0021others(1): Show | a0001c0002t0002a0001c0008t0034a0001c0021t0017others(1): Show | a0001c0002t0002g0203 a0001c0008t0034g0015 a0001c0021t0017g0109 others(2): Show |
5 | 34 | 0.1471 | 8 | c.161 others(27): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 14/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126159307 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01934.hp1 HG04228.hp2 NA18612.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0007a0001c0003t0003a0001c0003t0004others(2): Show | a0001c0002t0007g0137 a0001c0003t0003g0221 a0001c0003t0004g0225 others(2): Show |
5 | 48 | 0.1042 | 8 | c.261 others(25): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126243489 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00673.hp1 others(45): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0004others(19): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0009others(31): Show | a0001c0002t0001g0031 a0001c0002t0001g0085 a0001c0002t0001g0147 others(45): Show |
48 | 60 | 0.8000 | 8 | c.260 others(27): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126311094 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01975.hp2 HG03017.hp1 others(4): Show |
a0001a0013 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0001a0001c0002t0014a0001c0003t0004others(4): Show | a0001c0002t0001g0147 a0001c0002t0014g0016 a0001c0003t0004g0029 others(4): Show |
7 | 32 | 0.2188 | 8 | c.186 others(27): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 2/22 | chr10 | TogoVar | |||||||
ADAM15_chr1_155046316_155067775 | 155046600 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(155): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(48): Show |
158 | 179 | 0.8827 | 8 | c.-47 others(19): Show |
ADAM15 | ENSG00000143537.14 | transcript | ENST00000356955.7 | protein_coding | 4715 | chr1 | TogoVar | |||||||
ADAM17_chr2_9483486_9560830 | 9514518 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01256.hp2 HG01928.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0026a0001c0001t0036a0001c0002t0002others(7): Show | a0001c0001t0026g0066 a0001c0001t0026g0067 a0001c0001t0036g0040 others(10): Show |
13 | 21 | 0.6190 | 8 | c.119 others(27): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 10/18 | chr2 | TogoVar | |||||||
ADAM17_chr2_9483486_9560830 | 9520964 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01069.hp1 HG01071.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0018a0001c0001t0020others(4): Show | a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0074 others(9): Show |
13 | 106 | 0.1226 | 8 | c.957 others(23): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 8/18 | chr2 | TogoVar | |||||||
ADAM17_chr2_9483486_9560830 | 9521840 | T | TCTTCCTG others(1): Show |
intron_variant | MODIFIER | HG01952.hp1 NA19068.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0071 | a0001c0002t0002g0226 a0001c0002t0071g0176 |
2 | 129 | 0.0155 | 8 | c.844 others(23): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 7/18 | chr2 | TogoVar | |||||||
ADAM17_chr2_9483486_9560830 | 9546715 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01884.hp2 HG02055.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(7): Show | a0001c0001t0001g0007 a0001c0001t0004g0072 a0001c0001t0008g0122 others(9): Show |
12 | 101 | 0.1188 | 8 | c.98- others(23): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 1/18 | chr2 | TogoVar | |||||||
ADAM18_chr8_39579568_39735065 | 39581479 | G | GACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01069.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0001a0001c0008t0003 | a0001c0001t0001g0139 a0001c0002t0001g0003 a0001c0002t0001g0094 others(9): Show |
13 | 110 | 0.1182 | 8 | c.-31 others(19): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 3088 | chr8 | TogoVar | |||||||
ADAM18_chr8_39579568_39735065 | 39586755 | A | ACTATCTA others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02257.hp2 HG02523.hp2 others(1): Show |
a0001a0003a0014 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0003c0004t0002others(1): Show | a0001c0001t0001g0254 a0001c0002t0001g0157 a0003c0004t0002g0010 others(1): Show |
4 | 142 | 0.0282 | 8 | c.132 others(25): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM18_chr8_39579568_39735065 | 39628416 | A | AATAGATA others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 HG02615.hp1 others(12): Show |
a0001a0007a0013 | a0001c0001a0001c0002a0007c0009others(1): Show | a0001c0001t0001a0001c0002t0001a0007c0009t0001others(1): Show | a0001c0001t0001g0189 a0001c0001t0001g0253 a0001c0002t0001g0001 others(11): Show |
15 | 128 | 0.1172 | 8 | c.523 others(23): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM18_chr8_39579568_39735065 | 39730838 | G | GGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 HG02895.hp2 HG03139.hp2 others(5): Show |
a0001a0004 | a0001c0001a0001c0007a0004c0005others(1): Show | a0001c0001t0001a0001c0007t0001a0004c0005t0001others(1): Show | a0001c0001t0001g0197 a0001c0001t0001g0218 a0001c0001t0001g0221 others(5): Show |
8 | 89 | 0.0899 | 8 | c.*89 others(17): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 774 | chr8 | TogoVar | |||||||
ADAM18_chr8_39579568_39735065 | 39733195 | C | CCACACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00597.hp2 others(84): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0010others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(7): Show | a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0166 others(82): Show |
87 | 112 | 0.7768 | 8 | c.*32 others(19): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 3131 | chr8 | TogoVar | |||||||
ADAM19_chr5_157472304_157580775 | 157489029 | C | CAAAAAGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(137): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0019a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(36): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0029 others(134): Show |
140 | 308 | 0.4545 | 8 | c.232 others(23): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 20/22 | chr5 | TogoVar | |||||||
ADAM19_chr5_157472304_157580775 | 157494263 | A | AGATGGAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01168.hp1 HG01934.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007 | a0002c0002t0002g0056 a0002c0002t0007g0254 a0002c0002t0007g0267 |
3 | 228 | 0.0132 | 8 | c.170 others(25): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 15/22 | chr5 | TogoVar | |||||||
ADAM19_chr5_157472304_157580775 | 157498688 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(37): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0035 others(36): Show |
40 | 130 | 0.3077 | 8 | c.139 others(25): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 13/22 | chr5 | TogoVar |