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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADA2_chr22_17173790_17224435 | 17188868 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02976.hp1 HG03041.hp1 others(4): Show |
a0002a0003 | a0002c0002a0002c0009a0003c0019 | a0002c0002t0003a0002c0002t0007a0002c0009t0002others(1): Show | a0002c0002t0003g0029a0002c0002t0003g0038a0002c0002t0003g0278others(4): Show | 7 | 408 | 0.0172 | 27 | c.973 others(42): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 6/9 | chr22 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17199416 | T | TCCTCCCT others(20): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(242): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(78): Show | a0001c0001t0001g0016a0001c0001t0001g0043a0001c0001t0001g0055others(241): Show | 245 | 408 | 0.6005 | 27 | c.753 others(44): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | ||||||
ADAL_chr15_43325672_43359569 | 43334664 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01258.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0069a0001c0002t0003g0068 | 2 | 386 | 0.0052 | 27 | c.-16 others(44): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126086680 | A | AAAAAAAT others(20): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02970.hp1 HG03579.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006a0001c0002t0008 | a0001c0002t0001g0042a0001c0002t0006g0213a0001c0002t0008g0214 | 3 | 252 | 0.0119 | 27 | c.114 others(46): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126086680 | A | AAAAATAT others(20): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01928.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0008a0002c0001t0001 | a0001c0002t0008g0211a0002c0001t0001g0223 | 2 | 252 | 0.0079 | 27 | c.114 others(46): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126086680 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02165.hp1 |
a0001a0003 | a0001c0013a0003c0029 | a0001c0013t0001a0003c0029t0005 | a0001c0013t0001g0023a0003c0029t0005g0037 | 2 | 252 | 0.0079 | 27 | c.114 others(46): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | ||||||
ADAM20_chr14_70517358_70540004 | 70536465 | C | CAAAAAAA others(20): Show |
upstream_gene_variant | MODIFIER | NA19074.hp2 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 400 | 0.0050 | 27 | c.-18 others(38): Show |
ADAM20 | ENSG00000134007.5 | transcript | ENST00000256389.5 | protein_coding | 1462 | chr14 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 87982699 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01433.hp2 HG02145.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0019a0003c0003t0001others(1): Show | a0001c0001t0001g0026a0001c0001t0001g0083a0001c0001t0001g0163others(4): Show | 7 | 230 | 0.0304 | 27 | c.323 others(44): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | chr7 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 88039464 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 230 | 0.0044 | 27 | c.324 others(46): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADAM22_chr7_87929251_88207889 | 88039464 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 230 | 0.0044 | 27 | c.324 others(46): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | chr7 | TogoVar | ||||||
ADAM28_chr8_24289069_24364014 | 24306351 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0289 | 1 | 348 | 0.0029 | 27 | c.151 others(44): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 2/22 | chr8 | TogoVar | ||||||
ADAM30_chr1_119888533_119901515 | 119894015 | G | GTTTGCTT others(20): Show |
disruptive_inframe_insertion | MODERATE | HG02451.hp2 | a0007 | a0007c0008 | a0007c0008t0002 | a0007c0008t0002g0000 | 1 | 388 | 0.0026 | 27 | c.229 others(36): Show |
p.Lys others(13): Show |
ADAM30 | ENSG00000134249.7 | transcript | ENST00000369400.2 | protein_coding | 1/1 | 2500/2983 | 2321/2373 | 774/790 | chr1 | TogoVar | ||
ADAM7_chr8_24436026_24514565 | 24514043 | C | CAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0059 | 1 | 360 | 0.0028 | 27 | c.*54 others(38): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 4479 | chr8 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 39057344 | T | TAATATAT others(20): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 332 | 0.0030 | 27 | c.159 others(46): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAMTS10_chr19_8575240_8615715 | 8581130 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0331 | 1 | 384 | 0.0026 | 27 | c.320 others(44): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 25/25 | chr19 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33626374 | A | ATGGGGGT others(20): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 224 | 0.0045 | 27 | c.202 others(46): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 13/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33849080 | A | AATATATA others(20): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01069.hp1 HG01109.hp1 others(12): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(8): Show | a0001c0001t0001g0155a0001c0001t0001g0157a0001c0001t0001g0177others(12): Show | 15 | 224 | 0.0670 | 27 | c.489 others(46): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33849103 | A | AATATATA others(20): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0218 | 1 | 224 | 0.0045 | 27 | c.489 others(46): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33849562 | A | AATATATA others(20): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02559.hp1 NA18906.hp2 |
a0001a0004 | a0001c0016a0001c0018a0004c0017 | a0001c0016t0001a0001c0018t0008a0004c0017t0013 | a0001c0016t0001g0208a0001c0018t0008g0207a0004c0017t0013g0209 | 3 | 224 | 0.0134 | 27 | c.489 others(46): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70688882 | A | AGGGGGAG others(20): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0007 | a0001c0007t0014 | a0001c0007t0014g0261 | 1 | 354 | 0.0028 | 27 | c.523 others(46): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADAMTS18_chr16_77277128_77440034 | 77314786 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01496.hp2 NA18947.hp2 |
a0001a0010 | a0001c0023a0010c0013 | a0001c0023t0003a0010c0013t0006 | a0001c0023t0003g0172a0010c0013t0006g0062 | 2 | 326 | 0.0061 | 27 | c.253 others(46): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/22 | chr16 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129645885 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01257.hp1 HG02818.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0007a0001c0003t0001 | a0001c0001t0001g0147a0001c0001t0007g0051a0001c0003t0001g0216 | 3 | 226 | 0.0133 | 27 | c.187 others(46): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129702941 | A | AAAAAAAT others(20): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 226 | 0.0044 | 27 | c.316 others(46): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129702941 | A | AAAAATAT others(20): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 NA19082.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0224a0001c0001t0002g0225a0002c0002t0001g0106 | 3 | 226 | 0.0133 | 27 | c.316 others(46): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129702941 | A | AAATATAT others(20): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02071.hp2 NA18972.hp2 others(1): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0162a0001c0003t0001g0203a0002c0002t0001g0108others(1): Show | 4 | 226 | 0.0177 | 27 | c.316 others(46): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129702941 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 226 | 0.0044 | 27 | c.316 others(46): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | chr5 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43420800 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02723.hp1 NA20129.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0294a0001c0002t0002g0295a0001c0002t0002g0301 | 3 | 306 | 0.0098 | 27 | c.428 others(46): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0154 | 1 | 306 | 0.0033 | 27 | c.161 others(46): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA18990.hp1 NA19005.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234a0001c0001t0001g0235a0001c0001t0001g0236 | 3 | 306 | 0.0098 | 27 | c.161 others(46): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02132.hp2 NA18947.hp2 NA18952.hp1 others(2): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0017a0001c0001t0001g0062a0001c0001t0001g0098others(2): Show | 5 | 306 | 0.0163 | 27 | c.161 others(46): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72455972 | A | ATATATAG others(20): Show |
intron_variant | MODIFIER | HG03453.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0008a0001c0001t0005g0009 | 2 | 182 | 0.0110 | 27 | c.505 others(46): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72530030 | A | AATATATA others(20): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03139.hp1 |
a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0017a0001c0004t0008g0018 | 2 | 182 | 0.0110 | 27 | c.504 others(46): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72530036 | A | AATATATT others(20): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02523.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0097a0002c0002t0001g0134 | 2 | 182 | 0.0110 | 27 | c.504 others(46): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72550114 | A | AGAAGAAG others(20): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0130 | 1 | 182 | 0.0055 | 27 | c.98- others(42): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65230302 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01109.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103a0001c0001t0002g0105 | 2 | 204 | 0.0098 | 27 | c.193 others(46): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65230356 | T | TTATATAT others(20): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02602.hp2 NA18947.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0016 | a0001c0001t0001g0048a0001c0001t0009g0003a0001c0001t0016g0186 | 3 | 204 | 0.0147 | 27 | c.193 others(46): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65230421 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01081.hp1 HG01106.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0133a0001c0001t0001g0185 | 3 | 204 | 0.0147 | 27 | c.193 others(46): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18828660 | T | TTTATATA others(20): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0066 | 1 | 218 | 0.0046 | 27 | c.411 others(46): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18866116 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18984.hp1 NA18998.hp1 |
a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0100a0003c0012t0001g0180 | 2 | 218 | 0.0092 | 27 | c.425 others(48): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL2_chr9_133529704_133580519 | 133539653 | A | ACGGCTGT others(20): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp1 others(32): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0002others(19): Show | a0001c0001t0001g0052a0001c0001t0001g0130a0001c0001t0001g0138others(32): Show | 35 | 152 | 0.2303 | 27 | c.310 others(41): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL2_chr9_133529704_133580519 | 133539653 | A | ATGGCTGT others(20): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0016 | 1 | 152 | 0.0066 | 27 | c.310 others(42): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 4/18 | chr9 | TogoVar | ||||||
ADAMTSL5_chr19_1500022_1518019 | 1500696 | G | GAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG01169.hp1 HG02486.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0001g0099a0001c0001t0005g0029a0001c0001t0009g0041others(1): Show | 4 | 352 | 0.0114 | 27 | c.*53 others(38): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4325 | chr19 | TogoVar | ||||||
ADAMTSL5_chr19_1500022_1518019 | 1500696 | G | GAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0041 | 1 | 352 | 0.0028 | 27 | c.*53 others(38): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4325 | chr19 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 924484 | G | GCAGGTCC others(20): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 14 | 0.0714 | 27 | c.305 others(44): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 3/10 | chr7 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 937393 | G | GGCCTCTG others(20): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 14 | 0.0714 | 27 | c.83- others(42): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 1/10 | chr7 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 937475 | G | GCCTCTGG others(20): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 14 | 0.0714 | 27 | c.83- others(42): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 1/10 | chr7 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45074598 | T | TGGCGGCG others(20): Show |
5_prime_UTR_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0125 | a0001c0001t0125g0180 | 1 | 350 | 0.0029 | 27 | c.-39 others(36): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 1/11 | 97034 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ADARB2_chr10_1172313_1742525 | 1189729 | C | CCTACCTC others(20): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG01243.hp1 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(26): Show | a0001c0001t0001g0045a0001c0001t0001g0065a0001c0001t0001g0069others(38): Show | 41 | 106 | 0.3868 | 27 | c.186 others(46): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 8/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1238067 | C | CCCTCTCC others(20): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03540.hp1 |
a0002a0008 | a0002c0002a0008c0013 | a0002c0002t0008a0008c0013t0020 | a0002c0002t0008g0047a0008c0013t0020g0037 | 2 | 106 | 0.0189 | 27 | c.136 others(46): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1238373 | C | CCCCCTGT others(20): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0072 | 1 | 106 | 0.0094 | 27 | c.136 others(46): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar |