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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTN2_chr1_236681499_236769631 | 236721015 | G | GGTTTTTT others(27): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02738.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0253a0001c0001t0001g0321a0001c0001t0003g0339 | 3 | 344 | 0.0087 | 34 | c.448 others(49): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236737297 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG01496.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0001g0219a0001c0001t0001g0258a0001c0001t0001g0304others(6): Show | 9 | 344 | 0.0262 | 34 | c.876 others(47): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 9/20 | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236737297 | G | GTATGTAT others(27): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18967.hp2 NA18984.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0146a0001c0001t0001g0154a0001c0001t0003g0147others(1): Show | 4 | 344 | 0.0116 | 34 | c.876 others(47): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 9/20 | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236737315 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0005 | a0001c0001t0004g0059a0001c0004t0005g0060 | 2 | 344 | 0.0058 | 34 | c.876 others(49): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38735962 | G | GGGGGCGG others(27): Show |
downstream_gene_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0103 | 1 | 314 | 0.0032 | 34 | c.*65 others(45): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4374 | chr19 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152785470 | G | GGGAGAGG others(27): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 310 | 0.0032 | 34 | c.100 others(51): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACVR1_chr2_157731446_157881330 | 157845590 | T | TGTGGTAA others(27): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02895.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0049a0001c0001t0002g0070a0001c0002t0001g0149others(1): Show | 4 | 174 | 0.0230 | 34 | c.-18 others(55): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACY3_chr11_67637555_67655730 | 67644840 | C | CTTCCATC others(27): Show |
frameshift_variant others(1): Show |
HIGH | HG02083.hp1 | a0004 | a0004c0010 | a0004c0010t0012 | a0004c0010t0012g0080 | 1 | 396 | 0.0025 | 34 | c.635 others(43): Show |
p.Ala others(5): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 7/8 | 905/1371 | 663/960 | 221/319 | chr11 | TogoVar | ||
ACYP2_chr2_53966113_54310300 | 54201582 | T | TTTTCTTT others(27): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 272 | 0.0037 | 34 | c.404 others(53): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54201632 | C | CTTTCTTT others(27): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 272 | 0.0037 | 34 | c.404 others(53): 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(27): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01934.hp2 HG02280.hp2 others(5): Show |
a0001a0002 | a0001c0005a0001c0008a0001c0010others(2): Show | a0001c0005t0004a0001c0008t0006a0001c0008t0047others(3): Show | a0001c0005t0004g0354a0001c0008t0006g0388a0001c0008t0047g0351others(5): Show | 8 | 408 | 0.0196 | 34 | c.108 others(53): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 7/9 | chr22 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17188868 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0006 | a0002c0006t0050 | a0002c0006t0050g0345 | 1 | 408 | 0.0025 | 34 | c.973 others(49): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 6/9 | chr22 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17188868 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0002 | a0002c0002 | a0002c0002t0041 | a0002c0002t0041g0332 | 1 | 408 | 0.0025 | 34 | c.973 others(49): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 6/9 | chr22 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126121113 | A | ATATATAG others(27): Show |
intron_variant | MODIFIER | HG02970.hp2 NA18946.hp1 NA18959.hp1 others(5): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0005others(1): Show | a0001c0003t0007a0001c0003t0012a0001c0003t0043others(5): Show | a0001c0003t0007g0028a0001c0003t0012g0089a0001c0003t0043g0068others(5): Show | 8 | 252 | 0.0318 | 34 | c.417 others(51): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 5/22 | chr10 | TogoVar | ||||||
ADAM17_chr2_9483486_9560830 | 9489259 | A | ATTTTTTT others(27): Show |
3_prime_UTR_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0003 | a0002c0003t0040 | a0002c0003t0040g0054 | 1 | 234 | 0.0043 | 34 | c.*91 others(43): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 19/19 | 917 | chr2 | TogoVar | |||||
ADAM17_chr2_9483486_9560830 | 9520964 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0021 | 1 | 234 | 0.0043 | 34 | c.957 others(49): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 8/18 | chr2 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 87966721 | G | GTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG02257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0060a0001c0001t0001g0117a0001c0001t0001g0150others(3): Show | 6 | 230 | 0.0261 | 34 | c.247 others(53): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADAM22_chr7_87929251_88207889 | 88039464 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0170 | 1 | 230 | 0.0044 | 34 | c.324 others(53): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADAM9_chr8_38991973_39110261 | 39045078 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02451.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(15): Show | 18 | 332 | 0.0542 | 34 | c.130 others(53): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM9_chr8_38991973_39110261 | 39045120 | G | GTGTATAT others(27): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18945.hp2 NA18965.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0005c0009t0001 | a0001c0001t0001g0162a0001c0001t0001g0174a0001c0001t0001g0178others(1): Show | 4 | 332 | 0.0121 | 34 | c.130 others(53): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM9_chr8_38991973_39110261 | 39045122 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | NA18522.hp2 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157a0001c0001t0001g0182 | 2 | 332 | 0.0060 | 34 | c.130 others(53): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM9_chr8_38991973_39110261 | 39045163 | C | CATATGTG others(27): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 332 | 0.0030 | 34 | c.130 others(53): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAMTS13_chr9_133417367_133464386 | 133460459 | A | AGGGCGGG others(27): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG01070.hp2 others(5): Show |
a0001a0002 | a0001c0011a0002c0002 | a0001c0011t0001a0002c0002t0001 | a0001c0011t0001g0158a0002c0002t0001g0007a0002c0002t0001g0038others(4): Show | 8 | 364 | 0.0220 | 34 | c.*12 others(45): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 1074 | chr9 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70759132 | T | TTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02055.hp1 HG02559.hp1 others(5): Show |
a0001a0014 | a0001c0005a0001c0025a0001c0055others(1): Show | a0001c0005t0010a0001c0005t0026a0001c0025t0010others(2): Show | a0001c0005t0010g0104a0001c0005t0010g0105a0001c0005t0010g0106others(5): Show | 8 | 354 | 0.0226 | 34 | c.317 others(51): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADAMTS15_chr11_130443645_130481645 | 130470154 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0254 | 1 | 398 | 0.0025 | 34 | c.172 others(51): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ADAMTS15_chr11_130443645_130481645 | 130470160 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 398 | 0.0025 | 34 | c.172 others(51): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ADAMTS15_chr11_130443645_130481645 | 130470184 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0162 | 1 | 398 | 0.0025 | 34 | c.172 others(51): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ADAMTS17_chr15_99966437_100346975 | 100119043 | T | TACACACA others(27): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0197 | 1 | 228 | 0.0044 | 34 | c.172 others(53): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 12/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100225448 | C | CCTCTGTG others(27): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0003 | a0003c0019 | a0003c0019t0001 | a0003c0019t0001g0152 | 1 | 228 | 0.0044 | 34 | c.107 others(55): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 7/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100255617 | A | AACACACA others(27): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03516.hp1 NA18983.hp2 |
a0001a0002a0006 | a0001c0033a0002c0001a0006c0016 | a0001c0033t0015a0002c0001t0002a0006c0016t0024 | a0001c0033t0015g0178a0002c0001t0002g0058a0006c0016t0024g0200 | 3 | 228 | 0.0132 | 34 | c.103 others(53): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 6/21 | chr15 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77314753 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01891.hp2 HG02083.hp2 others(5): Show |
a0001a0003a0007others(3): Show | a0001c0001a0003c0002a0007c0021others(3): Show | a0001c0001t0002a0003c0002t0023a0007c0021t0002others(3): Show | a0001c0001t0002g0096a0001c0001t0002g0194a0001c0001t0002g0232others(5): Show | 8 | 326 | 0.0245 | 34 | c.253 others(53): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77314753 | C | CTTATATA others(27): Show |
intron_variant | MODIFIER | HG00544.hp2 HG03516.hp1 NA18986.hp1 |
a0002a0004a0034 | a0002c0007a0004c0003a0034c0048 | a0002c0007t0004a0004c0003t0034a0034c0048t0002 | a0002c0007t0004g0268a0004c0003t0034g0089a0034c0048t0002g0078 | 3 | 326 | 0.0092 | 34 | c.253 others(53): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/22 | chr16 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129658351 | A | AAGAAAGA others(27): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0057 | 1 | 226 | 0.0044 | 34 | c.230 others(51): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0076 | 1 | 306 | 0.0033 | 34 | c.161 others(53): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG03669.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041a0001c0001t0001g0060 | 2 | 306 | 0.0065 | 34 | c.161 others(53): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179227122 | C | CATATGTG others(27): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03490.hp2 HG03654.hp2 |
a0002a0005a0006 | a0002c0007a0005c0013a0006c0062 | a0002c0007t0002a0005c0013t0003a0006c0062t0003 | a0002c0007t0002g0031a0005c0013t0003g0087a0006c0062t0003g0104 | 3 | 276 | 0.0109 | 34 | c.689 others(53): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
ADAMTS4_chr1_161179302_161204054 | 161188883 | A | AATATATA others(27): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG02071.hp1 HG02165.hp1 others(7): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0040a0001c0001t0041a0001c0001t0111others(6): Show | a0001c0001t0040g0025a0001c0001t0041g0076a0001c0001t0111g0077others(6): Show | 10 | 374 | 0.0267 | 34 | c.*22 others(45): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 9/9 | 2254 | chr1 | TogoVar | |||||
ADAMTS9_chr3_64510654_64693000 | 64663453 | A | AAGGGGAA others(27): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0007 | a0007c0011 | a0007c0011t0004 | a0007c0011t0004g0086 | 1 | 286 | 0.0035 | 34 | c.680 others(51): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 3/39 | chr3 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18503421 | G | GTGTATAT others(27): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0014 | a0014c0046 | a0014c0046t0002 | a0014c0046t0002g0202 | 1 | 218 | 0.0046 | 34 | c.64- others(49): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18588867 | C | CCATATAT others(27): Show |
intron_variant | MODIFIER | HG03710.hp2 HG03831.hp1 |
a0002 | a0002c0004a0002c0037 | a0002c0004t0008a0002c0037t0004 | a0002c0004t0008g0091a0002c0037t0004g0168 | 2 | 218 | 0.0092 | 34 | c.474 others(53): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAAAAATA others(27): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0190 | 1 | 218 | 0.0046 | 34 | c.157 others(53): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18866116 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0007 | a0007c0050 | a0007c0050t0002 | a0007c0050t0002g0198 | 1 | 218 | 0.0046 | 34 | c.425 others(55): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL2_chr9_133529704_133580519 | 133563872 | A | AGAGAGAG others(27): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0039 | 1 | 152 | 0.0066 | 34 | c.174 others(53): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83674766 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02698.hp1 HG02970.hp1 others(2): Show |
a0003a0006a0008others(1): Show | a0003c0003a0006c0006a0008c0010others(1): Show | a0003c0003t0001a0006c0006t0001a0008c0010t0001others(1): Show | a0003c0003t0001g0083a0006c0006t0001g0082a0006c0006t0001g0106others(2): Show | 5 | 274 | 0.0183 | 34 | c.69+ others(51): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83903922 | A | AGGAAGGA others(27): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 NA18940.hp2 others(6): Show |
a0001a0002a0041 | a0001c0001a0002c0008a0041c0041 | a0001c0001t0001a0002c0008t0001a0041c0041t0001 | a0001c0001t0001g0174a0001c0001t0001g0189a0001c0001t0001g0191others(6): Show | 9 | 274 | 0.0329 | 34 | c.170 others(53): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 15/29 | chr15 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 897651 | A | AGGGGGCA others(27): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 14 | 0.0714 | 34 | c.*12 others(45): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 248 | chr7 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 909124 | T | TCCTCCCG others(27): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 14 | 0.0714 | 34 | c.389 others(51): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 942692 | G | GGAGTGAG others(27): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 14 | 0.0714 | 34 | c.83- others(49): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 1/10 | chr7 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1459911 | G | GCAAACCT others(27): Show |
intron_variant | MODIFIER | HG02602.hp2 HG03669.hp2 HG04184.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0031a0001c0001t0054a0002c0002t0002others(1): Show | a0001c0001t0031g0059a0001c0001t0054g0083a0002c0002t0002g0075others(1): Show | 4 | 106 | 0.0377 | 34 | c.101 others(53): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1460015 | A | AAACCTGC others(27): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03098.hp1 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0026a0002c0004t0047 | a0002c0002t0026g0032a0002c0004t0047g0063 | 2 | 106 | 0.0189 | 34 | c.101 others(53): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar |