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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADA2_chr22_17173790_17224435 | 17188868 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02976.hp1 HG03041.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0014 | a0001c0001t0003a0001c0001t0007a0001c0004t0002others(1): Show | a0001c0001t0003g0033 a0001c0001t0003g0042 a0001c0001t0003g0276 others(4): Show |
7 | 305 | 0.0230 | 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(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(66): Show | a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0025 others(239): Show |
245 | 406 | 0.6034 | 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 | a0001c0002t0001g0067 a0001c0002t0003g0066 |
2 | 374 | 0.0053 | 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 | a0001c0002t0001a0001c0002t0008a0001c0002t0009 | a0001c0002t0001g0245 a0001c0002t0008g0141 a0001c0002t0009g0140 |
3 | 67 | 0.0448 | 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 | a0001c0002t0008g0138 a0002c0001t0001g0152 |
2 | 66 | 0.0303 | 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 | a0001c0013t0001a0003c0029t0007 | a0001c0013t0001g0083 a0003c0029t0007g0241 |
2 | 66 | 0.0303 | 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 | 37 | 0.0541 | 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(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0019a0003c0003t0001others(1): Show | a0001c0001t0001g0026 a0001c0001t0001g0083 a0001c0001t0019g0167 others(3): Show |
6 | 105 | 0.0571 | 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 | 77 | 0.0130 | 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 | 77 | 0.0130 | 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 | a0001c0002t0001g0288 | 1 | 278 | 0.0036 | 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 | a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0000 | 1 | 386 | 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 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0060 | 1 | 331 | 0.0030 | 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 | 330 | 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 | a0001c0002t0001g0327 | 1 | 32 | 0.0313 | 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 | 221 | 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(11): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(8): Show | a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0177 others(11): Show |
14 | 98 | 0.1429 | 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 | 130 | 0.0077 | 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 | a0001c0016t0001g0208 a0001c0018t0008g0207 a0004c0017t0013g0209 |
3 | 125 | 0.0240 | 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 | a0001c0007t0014g0263 | 1 | 348 | 0.0029 | 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 | a0001c0023t0004a0010c0013t0006 | a0001c0023t0004g0173 a0010c0013t0006g0061 |
2 | 315 | 0.0063 | 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 | a0001c0001t0001g0147 a0001c0001t0007g0048 a0001c0003t0001g0216 |
3 | 43 | 0.0698 | 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 | a0001c0001t0001g0021 | 1 | 142 | 0.0070 | 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 | a0001c0001t0002g0224 a0001c0001t0002g0225 a0002c0002t0001g0105 |
3 | 144 | 0.0208 | 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 |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0163 a0001c0003t0001g0203 a0002c0002t0001g0108 others(1): Show |
4 | 145 | 0.0276 | 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 | 142 | 0.0070 | 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 | a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0301 |
3 | 19 | 0.1579 | 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 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0154 | 1 | 44 | 0.0227 | 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 | a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 |
3 | 46 | 0.0652 | 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 |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0005c0008t0001 | a0001c0001t0001g0017 a0001c0001t0001g0062 a0001c0001t0001g0097 others(2): Show |
5 | 48 | 0.1042 | 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 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0031 |
2 | 179 | 0.0112 | 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 | a0001c0004t0005 | a0001c0004t0005g0007 a0001c0004t0005g0008 |
2 | 180 | 0.0111 | 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 | a0002c0002t0001g0044 a0002c0002t0001g0084 |
2 | 136 | 0.0147 | 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 | a0002c0002t0001g0080 | 1 | 137 | 0.0073 | 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 | a0001c0001t0002g0103 a0001c0001t0002g0105 |
2 | 115 | 0.0174 | 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 | a0001c0001t0001g0047 a0001c0001t0009g0003 a0001c0001t0016g0186 |
3 | 61 | 0.0492 | 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 | a0001c0001t0001g0038 a0001c0001t0001g0133 a0001c0001t0001g0185 |
3 | 179 | 0.0168 | 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 | 64 | 0.0156 | 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 | a0003c0012t0001g0099 a0003c0012t0001g0179 |
2 | 53 | 0.0377 | 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 |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0005others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0002others(19): Show | a0001c0001t0001g0052 a0001c0001t0001g0130 a0001c0001t0001g0138 others(32): Show |
35 | 45 | 0.7778 | 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 | 11 | 0.0909 | 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 | a0001c0001t0001g0003 a0001c0001t0005g0031 a0001c0001t0009g0042 others(1): Show |
4 | 258 | 0.0155 | 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 | a0001c0001t0009g0042 | 1 | 255 | 0.0039 | 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 | 12 | 0.0833 | 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 | a0001c0001t0001g0004 | 1 | 12 | 0.0833 | 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 | 10 | 0.1000 | 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 | a0001c0001t0124 | a0001c0001t0124g0180 | 1 | 264 | 0.0038 | 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 | a0001c0001t0001g0045 a0001c0001t0001g0065 a0001c0001t0001g0069 others(38): Show |
41 | 52 | 0.7885 | 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 |
a0002a0007 | a0002c0002a0007c0013 | a0002c0002t0008a0007c0013t0020 | a0002c0002t0008g0047 a0007c0013t0020g0037 |
2 | 85 | 0.0235 | 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 | 91 | 0.0110 | 27 | c.136 others(46): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar |