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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACVR1_chr2_157731446_157881330 | 157865821 | A | AAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG01168.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(7): Show | a0001c0001t0001g0047a0001c0001t0001g0052a0001c0001t0001g0093others(20): Show | 23 | 174 | 0.1322 | 8 | c.-18 others(27): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147845000 | G | GTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG01069.hp2 others(29): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0006 | a0001c0002t0001a0001c0002t0006a0001c0002t0027others(2): Show | a0001c0002t0001g0006a0001c0002t0001g0032a0001c0002t0001g0040others(29): Show | 32 | 338 | 0.0947 | 8 | c.-15 others(17): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 28 | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147890341 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(81): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0002g0009a0001c0001t0002g0013a0001c0001t0002g0154others(78): Show | 84 | 338 | 0.2485 | 8 | c.56- others(23): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACVRL1_chr12_51902504_51928361 | 51905666 | C | CAGAGAGA others(1): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG02647.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0026 | a0001c0001t0001g0033a0001c0001t0002g0023a0001c0001t0026g0104 | 4 | 438 | 0.0091 | 8 | c.-20 others(19): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 1837 | chr12 | TogoVar | ||||||
ACVRL1_chr12_51902504_51928361 | 51919363 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01978.hp1 HG03209.hp2 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0065a0001c0001t0002g0067a0001c0001t0012g0106 | 3 | 438 | 0.0069 | 8 | c.137 others(25): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
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 | a0001c0001t0001g0001a0001c0001t0001g0121a0001c0001t0007g0048others(1): Show | 5 | 396 | 0.0126 | 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 | a0001c0001t0001g0010a0001c0001t0001g0021a0001c0001t0001g0027others(10): Show | 19 | 322 | 0.0590 | 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 | a0001c0001t0001g0001a0001c0001t0001g0115a0001c0001t0001g0116others(26): Show | 29 | 272 | 0.1066 | 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 | a0001c0001t0001g0105a0001c0001t0001g0190a0001c0001t0001g0256others(5): Show | 8 | 272 | 0.0294 | 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(79): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(9): Show | a0001c0001t0001g0196a0001c0001t0001g0258a0001c0001t0004g0170others(79): Show | 82 | 272 | 0.3015 | 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 | a0001c0001t0001g0147a0001c0001t0001g0153a0001c0001t0001g0173others(14): Show | 17 | 272 | 0.0625 | 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(26): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(5): Show | a0001c0001t0001g0119a0001c0001t0001g0186a0001c0001t0001g0190others(26): Show | 29 | 272 | 0.1066 | 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 | a0001c0001t0001g0001a0001c0001t0001g0131a0001c0001t0001g0186others(35): Show | 38 | 272 | 0.1397 | 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 | a0001c0001t0001g0001a0001c0001t0001g0186a0001c0001t0001g0188others(56): Show | 59 | 272 | 0.2169 | 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 | a0001c0001t0001g0105a0001c0001t0001g0115a0001c0001t0001g0118others(48): Show | 51 | 272 | 0.1875 | 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 | a0001c0001t0001g0200a0001c0001t0001g0210a0001c0001t0010g0207others(1): Show | 4 | 272 | 0.0147 | 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 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0137others(3): Show | 6 | 272 | 0.0221 | 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(59): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0115a0001c0001t0001g0117others(59): Show | 62 | 272 | 0.2279 | 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 | a0001c0001t0001g0133a0001c0001t0001g0196a0001c0001t0001g0221others(16): Show | 19 | 272 | 0.0699 | 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 | a0001c0001t0001g0132a0001c0002t0001g0106a0001c0002t0002g0052others(4): Show | 7 | 272 | 0.0257 | 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 | a0001c0001t0001g0220a0001c0001t0004g0170a0001c0001t0004g0171others(2): Show | 5 | 272 | 0.0184 | 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 | a0001c0001a0001c0004 | a0001c0001t0015a0001c0004t0015 | a0001c0001t0015g0030a0001c0001t0015g0096a0001c0001t0015g0219others(2): Show | 5 | 408 | 0.0123 | 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 |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0075a0001c0001t0001g0084a0001c0001t0001g0153others(29): Show | 32 | 408 | 0.0784 | 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 |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(42): Show | a0001c0001t0001g0094a0001c0001t0001g0162a0001c0001t0001g0200others(81): Show | 85 | 408 | 0.2083 | 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 | a0001c0001t0001g0075a0001c0001t0001g0076a0001c0001t0001g0079others(15): Show | 18 | 376 | 0.0479 | 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 | a0001c0001t0004g0137a0001c0002t0001g0013a0001c0002t0001g0204 | 7 | 386 | 0.0181 | 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 | a0001c0001t0001a0001c0001t0010a0001c0001t0024others(2): Show | a0001c0001t0001g0124a0001c0001t0001g0161a0001c0001t0001g0164others(7): Show | 10 | 342 | 0.0292 | 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 | a0001c0001t0001g0057a0001c0001t0001g0062a0001c0001t0001g0069others(22): Show | 25 | 342 | 0.0731 | 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 | a0001c0001t0003g0188a0001c0001t0003g0239a0001c0001t0003g0249others(27): Show | 30 | 342 | 0.0877 | 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 | a0001c0001t0001g0142a0001c0001t0001g0155a0001c0001t0001g0157others(3): Show | 6 | 342 | 0.0175 | 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 | a0001c0001t0001a0001c0001t0002a0001c0001t0024others(2): Show | a0001c0001t0001g0100a0001c0001t0001g0121a0001c0001t0001g0159others(5): Show | 8 | 342 | 0.0234 | 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0071others(4): Show | 7 | 342 | 0.0205 | 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 | a0001c0001t0004g0235a0001c0001t0005g0212a0001c0001t0005g0213others(9): Show | 12 | 342 | 0.0351 | 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 | a0001c0001t0001g0111a0001c0001t0001g0149a0001c0001t0001g0151others(32): Show | 35 | 342 | 0.1023 | 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 | a0001c0001t0001g0142a0001c0001t0001g0149a0001c0001t0002g0125others(28): Show | 31 | 342 | 0.0906 | 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 | a0001c0003t0003a0001c0003t0012a0001c0014t0003others(1): Show | a0001c0003t0003g0041a0001c0003t0012g0089a0001c0014t0003g0090others(2): Show | 5 | 252 | 0.0198 | 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 | a0001c0004t0001a0002c0007t0002a0004c0047t0004 | a0001c0004t0001g0036a0002c0007t0002g0108a0004c0047t0004g0164 | 3 | 252 | 0.0119 | 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 | a0001c0002t0002a0001c0002t0019a0001c0004t0002others(5): Show | a0001c0002t0002g0038a0001c0002t0019g0150a0001c0004t0002g0193others(8): Show | 11 | 252 | 0.0437 | 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 | a0001c0002t0002a0001c0008t0040a0001c0021t0021others(1): Show | a0001c0002t0002g0186a0001c0008t0040g0012a0001c0021t0021g0076others(2): Show | 5 | 252 | 0.0198 | 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 | a0001c0002t0005a0001c0003t0003a0001c0003t0007others(2): Show | a0001c0002t0005g0210a0001c0003t0003g0030a0001c0003t0007g0028others(2): Show | 5 | 252 | 0.0198 | 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 | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(31): Show | a0001c0002t0001g0101a0001c0002t0001g0149a0001c0002t0001g0185others(45): Show | 48 | 252 | 0.1905 | 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 |
a0001a0008 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0001a0001c0002t0017a0001c0003t0016others(4): Show | a0001c0002t0001g0220a0001c0002t0017g0013a0001c0003t0016g0048others(4): Show | 7 | 252 | 0.0278 | 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 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(48): Show | 158 | 324 | 0.4877 | 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 | a0001c0001t0028a0001c0001t0037a0001c0002t0002others(7): Show | a0001c0001t0028g0066a0001c0001t0028g0067a0001c0001t0037g0040others(10): Show | 13 | 234 | 0.0556 | 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 | a0001c0001t0004a0001c0001t0019a0001c0001t0021others(4): Show | a0001c0001t0004g0071a0001c0001t0004g0072a0001c0001t0004g0074others(9): Show | 13 | 234 | 0.0556 | 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 | a0001c0002t0002a0001c0002t0072 | a0001c0002t0002g0226a0001c0002t0072g0176 | 2 | 234 | 0.0086 | 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 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(7): Show | a0001c0001t0001g0007a0001c0001t0004g0072a0001c0001t0007g0122others(9): Show | 12 | 234 | 0.0513 | 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 | a0001c0001t0001g0135a0001c0002t0001g0001a0001c0002t0001g0051others(9): Show | 13 | 347 | 0.0375 | 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 |
a0001a0003a0013 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0003c0004t0002others(1): Show | a0001c0001t0001g0252a0001c0002t0001g0157a0003c0004t0002g0008others(1): Show | 4 | 347 | 0.0115 | 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 |
a0001a0007a0012 | a0001c0001a0001c0002a0007c0009others(1): Show | a0001c0001t0001a0001c0002t0001a0007c0009t0001others(1): Show | a0001c0001t0001g0187a0001c0001t0001g0251a0001c0002t0001g0002others(11): Show | 15 | 347 | 0.0432 | 8 | c.523 others(23): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |