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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADK_chr10_74146221_74714290 | 74274732 | G | GTGTGTAT others(27): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 77 | 0.0130 | 34 | c.195 others(53): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113449146 | T | TTCAGAGA others(27): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0222 | 1 | 254 | 0.0039 | 34 | c.214 others(51): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
ADPRH_chr3_119574492_119594945 | 119594241 | T | TCATTGCG others(27): Show |
downstream_gene_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 452 | 0.0022 | 34 | c.*63 others(45): Show |
ADPRH | ENSG00000144843.12 | transcript | ENST00000357003.8 | protein_coding | 4297 | chr3 | TogoVar | |||||||
ADRA1B_chr5_159911482_159978012 | 159963288 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 209 | 0.0048 | 34 | c.950 others(51): Show |
ADRA1B | ENSG00000170214.5 | transcript | ENST00000306675.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADRA1D_chr20_4215630_4254287 | 4231064 | T | TTCTTTCT others(27): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18964.hp1 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0009 a0001c0001t0001g0099 a0001c0001t0002g0109 |
3 | 325 | 0.0092 | 34 | c.111 others(53): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
ADSS1_chr14_104719229_104752310 | 104720891 | C | CCTCGTGT others(27): Show |
upstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 400 | 0.0025 | 34 | c.-33 others(45): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 3337 | chr14 | TogoVar | |||||||
AFAP1L1_chr5_149266859_149348637 | 149307818 | T | TTCTCTCT others(27): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 15 | 0.0667 | 34 | c.747 others(49): Show |
AFAP1L1 | ENSG00000157510.14 | transcript | ENST00000296721.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AFAP1L2_chr10_114289824_114409502 | 114327147 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01192.hp2 HG02895.hp1 others(7): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0076 a0001c0001t0001g0168 a0001c0001t0001g0177 others(7): Show |
10 | 48 | 0.2083 | 34 | c.316 others(51): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 4/18 | chr10 | TogoVar | |||||||
AFAP1L2_chr10_114289824_114409502 | 114327147 | T | TTTTATAT others(27): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0223 | 1 | 39 | 0.0256 | 34 | c.316 others(51): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 4/18 | chr10 | TogoVar | |||||||
AFF1_chr4_86930011_87146039 | 86969879 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02818.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005a0001c0002t0043 | a0001c0001t0003g0192 a0001c0002t0005g0193 a0001c0002t0005g0194 others(2): Show |
5 | 45 | 0.1111 | 34 | c.38+ others(51): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581036 | C | CACACATA others(27): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03139.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0023a0001c0004t0067 | a0001c0003t0023g0159 a0001c0004t0067g0160 |
2 | 154 | 0.0130 | 34 | c.48- others(51): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581272 | A | ATATACGT others(27): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0120 | 1 | 165 | 0.0061 | 34 | c.48- others(51): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148762409 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0021 | 1 | 147 | 0.0068 | 34 | c.104 others(55): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148983965 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0008 | 1 | 163 | 0.0061 | 34 | c.362 others(53): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFF3_chr2_99540419_100147590 | 99648917 | A | ACACACAC others(27): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 19 | 0.0526 | 34 | c.118 others(51): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 13/24 | chr2 | TogoVar | |||||||
AFF3_chr2_99540419_100147590 | 99648917 | A | ACACACAC others(27): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02976.hp2 HG04199.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003a0001c0003t0006 | a0001c0001t0001g0023 a0001c0003t0003g0026 a0001c0003t0006g0089 |
3 | 21 | 0.1429 | 34 | c.118 others(51): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 13/24 | chr2 | TogoVar | |||||||
AGAP1_chr2_235489043_236136793 | 235504337 | T | TTGCCTGT others(27): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03041.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0060 |
3 | 56 | 0.0536 | 34 | c.163 others(51): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235504337 | T | TTGCCTGT others(27): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01123.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(20): Show | a0001c0001t0002g0002 a0001c0001t0003g0034 a0001c0001t0003g0063 others(26): Show |
29 | 82 | 0.3537 | 34 | c.163 others(51): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235504473 | T | TTGCCTGT others(27): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01123.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(19): Show | a0001c0001t0002g0002 a0001c0001t0002g0046 a0001c0001t0002g0047 others(28): Show |
31 | 50 | 0.6200 | 34 | c.163 others(51): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235597691 | C | CTGTGTGG others(27): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02622.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0043a0001c0005t0004 | a0001c0002t0043g0064 a0001c0005t0004g0097 |
2 | 98 | 0.0204 | 34 | c.163 others(55): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP3_chr7_151081475_151149434 | 151136921 | G | GGGCAGCG others(27): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 352 | 0.0028 | 34 | c.149 others(53): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86262078 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00735.hp1 HG02738.hp1 others(1): Show |
a0001 | a0001c0003a0001c0006a0001c0008others(1): Show | a0001c0003t0025a0001c0006t0002a0001c0008t0053others(1): Show | a0001c0003t0025g0016 a0001c0006t0002g0051 a0001c0008t0053g0042 others(1): Show |
4 | 7 | 0.5714 | 34 | c.970 others(49): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86286735 | G | GTGTATAT others(27): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02615.hp2 HG02647.hp1 others(1): Show |
a0001a0002a0008 | a0001c0004a0002c0044a0008c0017 | a0001c0004t0052a0002c0044t0001a0008c0017t0012others(1): Show | a0001c0004t0052g0031 a0002c0044t0001g0081 a0008c0017t0012g0090 others(1): Show |
4 | 75 | 0.0533 | 34 | c.222 others(53): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86735653 | G | GATATATA others(27): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0006 | 1 | 90 | 0.0111 | 34 | c.315 others(55): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0030 | 1 | 8 | 0.1250 | 34 | c.848 others(49): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | |||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0034 | 1 | 8 | 0.1250 | 34 | c.848 others(49): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | |||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18994.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0072 a0002c0002t0002g0119 |
2 | 9 | 0.2222 | 34 | c.848 others(49): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | |||||||
AGBL3_chr7_134981508_135140778 | 135026244 | A | ATTATTTT others(27): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 142 | 0.0070 | 34 | c.419 others(51): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AGBL3_chr7_134981508_135140778 | 135026244 | A | ATTATTTT others(27): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02257.hp2 NA20805.hp1 |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0005a0002c0002t0001 | a0001c0006t0005g0198 a0002c0002t0001g0024 a0002c0002t0001g0025 |
3 | 144 | 0.0208 | 34 | c.419 others(51): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AGBL3_chr7_134981508_135140778 | 135026244 | A | ATTATTTT others(27): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0034 | 1 | 142 | 0.0070 | 34 | c.419 others(51): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AGBL3_chr7_134981508_135140778 | 135026248 | T | TTTTATTT others(27): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0274 | 1 | 246 | 0.0041 | 34 | c.419 others(51): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AGFG2_chr7_100534203_100573220 | 100551030 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 49 | 0.0204 | 34 | c.431 others(49): Show |
AGFG2 | ENSG00000106351.13 | transcript | ENST00000300176.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AGFG2_chr7_100534203_100573220 | 100551066 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0058 | 1 | 236 | 0.0042 | 34 | c.431 others(49): Show |
AGFG2 | ENSG00000106351.13 | transcript | ENST00000300176.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AGK_chr7_141546410_141660244 | 141602173 | T | TTGTGTGT others(27): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 100 | 0.0100 | 34 | c.297 others(49): Show |
AGK | ENSG00000006530.18 | transcript | ENST00000649286.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15198203 | G | GAGAGACA others(27): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0199 a0001c0001t0005g0200 |
2 | 234 | 0.0085 | 34 | c.*30 others(45): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 2113 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15432369 | C | CACACACA others(27): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0179 | 1 | 143 | 0.0070 | 34 | c.410 others(51): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15432379 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 125 | 0.0080 | 34 | c.410 others(51): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGPS_chr2_177387773_177548834 | 177450964 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0017 | 1 | 18 | 0.0556 | 34 | c.870 others(51): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGPS_chr2_177387773_177548834 | 177450964 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(11): Show | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 others(88): Show |
91 | 108 | 0.8426 | 34 | c.870 others(51): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGPS_chr2_177387773_177548834 | 177450964 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01168.hp2 HG01255.hp1 others(15): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0015a0001c0001t0026others(4): Show | a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 others(15): Show |
18 | 35 | 0.5143 | 34 | c.870 others(51): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGRN_chr1_1015120_1061116 | 1029942 | T | TGTGTGTG others(27): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0047 | a0001c0047t0001 | a0001c0047t0001g0063 | 1 | 208 | 0.0048 | 34 | c.464 others(51): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGRN_chr1_1015120_1061116 | 1049112 | G | GGGGCCGG others(27): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 208 | 0.0048 | 34 | c.429 others(49): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 24/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGTR1_chr3_148692903_148748003 | 148745791 | T | TTTTATTT others(27): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 348 | 0.0029 | 34 | c.*36 others(45): Show |
AGTR1 | ENSG00000144891.19 | transcript | ENST00000349243.8 | protein_coding | 2789 | chr3 | TogoVar | |||||||
AHCYL2_chr7_129220030_129435211 | 129365628 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02809.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0032 a0001c0001t0001g0069 a0001c0001t0001g0082 others(2): Show |
5 | 148 | 0.0338 | 34 | c.364 others(53): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHNAK2_chr14_104932253_104983374 | 104933706 | G | GGGGAGGG others(27): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00609.hp1 others(91): Show |
a0003a0005a0006others(38): Show | a0003c0004a0003c0119a0005c0011others(47): Show | a0003c0004t0002a0003c0004t0005a0003c0119t0002others(48): Show | a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0158 others(69): Show |
94 | 353 | 0.2663 | 34 | c.*43 others(45): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 3546 | chr14 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA18522.hp1 NA19085.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0024a0002c0002t0001 | a0001c0001t0024g0032 a0002c0002t0001g0200 |
2 | 104 | 0.0192 | 34 | c.-10 others(51): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02886.hp2 |
a0002a0004 | a0002c0002a0004c0003 | a0002c0002t0010a0004c0003t0007 | a0002c0002t0010g0015 a0004c0003t0007g0266 |
2 | 104 | 0.0192 | 34 | c.-10 others(51): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0009 | a0009c0020 | a0009c0020t0001 | a0009c0020t0001g0170 | 1 | 103 | 0.0097 | 34 | c.-10 others(51): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0197 | 1 | 103 | 0.0097 | 34 | c.-10 others(51): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 415342 | C | CGGGAGGC others(27): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0119 | 1 | 253 | 0.0040 | 34 | c.441 others(51): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |