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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGMO_chr7_15195317_15567015 | 15480941 | C | CACATTAA others(40): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0045 |
2 | 234 | 0.0085 | 47 | c.410 others(66): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGPAT1_chr6_32163212_32181084 | 32163897 | T | TAAGCTCA others(40): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0013 | 1 | 444 | 0.0023 | 47 | c.*53 others(58): Show |
AGPAT1 | ENSG00000204310.13 | transcript | ENST00000375107.8 | protein_coding | 4314 | chr6 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 391767 | G | GACGCAGG others(40): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01517.hp1 others(2): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0019a0003c0004t0004a0003c0004t0016 | a0002c0002t0019g0009 a0003c0004t0004g0004 a0003c0004t0004g0008 others(2): Show |
5 | 265 | 0.0189 | 47 | c.351 others(66): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
AIRE_chr21_44280876_44303648 | 44296718 | A | AACAAGAG others(40): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0005 | a0005c0040 | a0005c0040t0001 | a0005c0040t0001g0157 | 1 | 424 | 0.0024 | 47 | c.156 others(64): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
AKAP10_chr17_19899302_19982828 | 19951143 | G | GCAGCCCC others(40): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02055.hp1 HG02109.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0001 a0001c0001t0007g0052 a0001c0001t0007g0053 others(1): Show |
6 | 270 | 0.0222 | 47 | c.878 others(64): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 4/14 | chr17 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19951143 | G | GCAGCCCC others(40): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03540.hp2 NA19240.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0009a0001c0001t0013a0005c0005t0009 | a0001c0001t0009g0008 a0001c0001t0013g0007 a0005c0005t0009g0003 |
4 | 268 | 0.0149 | 47 | c.878 others(64): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 4/14 | chr17 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19951169 | A | ATCTGGGA others(40): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00639.hp1 others(84): Show |
a0002a0004a0006 | a0002c0002a0002c0009a0004c0004others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0012others(7): Show | a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0058 others(82): Show |
87 | 251 | 0.3466 | 47 | c.878 others(64): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 4/14 | chr17 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19951172 | T | TGGGAGGG others(40): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG01081.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0066 a0002c0002t0001g0071 a0002c0002t0001g0078 others(10): Show |
13 | 233 | 0.0558 | 47 | c.878 others(64): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 4/14 | chr17 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19951181 | G | GGTGGGGG others(40): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02132.hp1 HG02257.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0018 | a0001c0001t0004g0002 a0001c0001t0004g0250 a0001c0001t0004g0251 others(16): Show |
20 | 276 | 0.0725 | 47 | c.878 others(64): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 4/14 | chr17 | TogoVar | |||||||
AKAP17A_chrX_1586604_1607520 | 1588443 | C | CCTCCTCC others(40): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 15 | 0.0667 | 47 | c.-33 others(58): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3160 | chrX | TogoVar | |||||||
AKAP17A_chrX_1586604_1607520 | 1596453 | C | CCTCCCAC others(40): Show |
intron_variant | MODIFIER | HG01358.hp1 HG03688.hp1 NA18947.hp2 |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0006 | a0001c0001t0002a0002c0003t0002a0003c0006t0003 | a0001c0001t0002g0088 a0002c0003t0002g0059 a0003c0006t0003g0087 |
3 | 149 | 0.0201 | 47 | c.911 others(62): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AKAP17A_chrX_1586604_1607520 | 1596855 | T | TCCTCCTA others(40): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(31): Show |
a0001a0002a0007others(1): Show | a0001c0004a0002c0002a0002c0012others(2): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0010others(5): Show | a0001c0004t0001g0010 a0001c0004t0001g0018 a0001c0004t0002g0030 others(21): Show |
34 | 142 | 0.2394 | 47 | c.911 others(64): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AKIRIN2_chr6_87669860_87707233 | 87674643 | T | TTTATAAA others(40): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 HG03130.hp2 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0060 a0001c0002t0007g0061 |
2 | 390 | 0.0051 | 47 | c.*95 others(56): Show |
AKIRIN2 | ENSG00000135334.9 | transcript | ENST00000257787.6 | protein_coding | 216 | chr6 | TogoVar | |||||||
ALG10B_chr12_38311774_38334721 | 38330369 | G | GCCCCCCA others(40): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG02056.hp2 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0025 | a0001c0001t0004g0002 a0001c0001t0005g0002 a0001c0001t0025g0002 |
3 | 447 | 0.0067 | 47 | c.*91 others(58): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 649 | chr12 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3690306 | T | TCCCCCTC others(40): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 235 | 0.0043 | 47 | c.512 others(64): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45391077 | G | GTCTCCCT others(40): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 130 | 0.0077 | 47 | c.350 others(64): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ALPP_chr2_232373751_232387889 | 232385115 | A | AAGAAGAA others(40): Show |
downstream_gene_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 220 | 0.0045 | 47 | c.*33 others(58): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2227 | chr2 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38441790 | C | CATATATA others(40): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0240 | 1 | 249 | 0.0040 | 47 | c.101 others(66): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 11/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38441801 | T | TATATATC others(40): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01358.hp2 HG01496.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0001t0003g0249 a0001c0002t0002g0243 a0001c0003t0001g0284 others(4): Show |
7 | 286 | 0.0245 | 47 | c.101 others(66): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 11/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38610327 | A | AGAGAGAG others(40): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 228 | 0.0044 | 47 | c.69+ others(64): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
ANGPTL5_chr11_101885674_101921522 | 101889419 | G | GAAAGAGA others(40): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 1 | 398 | 0.0025 | 47 | c.*18 others(58): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 1254 | chr11 | TogoVar | |||||||
ANGPTL5_chr11_101885674_101921522 | 101889419 | G | GAAAGAGA others(40): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 398 | 0.0025 | 47 | c.*18 others(58): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 1254 | chr11 | TogoVar | |||||||
ANKDD1A_chr15_64906902_64963691 | 64951561 | T | TTCTTCTG others(40): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0231 | 1 | 326 | 0.0031 | 47 | c.148 others(66): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ANKDD1B_chr5_75606453_75676846 | 75612350 | T | TCCGCCCC others(40): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG02622.hp1 others(1): Show |
a0008a0010a0022 | a0008c0008a0010c0011a0022c0030 | a0008c0008t0004a0010c0011t0001a0022c0030t0007 | a0008c0008t0004g0160 a0008c0008t0004g0161 a0010c0011t0001g0163 others(1): Show |
4 | 354 | 0.0113 | 47 | c.193 others(62): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140485397 | A | ACACACAC others(40): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0314 | 1 | 57 | 0.0175 | 47 | c.199 others(64): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 12/33 | chr5 | TogoVar | |||||||
ANKIB1_chr7_92240974_92406383 | 92309942 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG01261.hp2 NA19002.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0043 a0001c0003t0002g0255 |
2 | 122 | 0.0164 | 47 | c.486 others(64): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ANKIB1_chr7_92240974_92406383 | 92309942 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | NA18973.hp1 NA18979.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0278 a0001c0003t0002g0296 |
2 | 122 | 0.0164 | 47 | c.486 others(64): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ANKIB1_chr7_92240974_92406383 | 92309942 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0297 | 1 | 121 | 0.0083 | 47 | c.486 others(64): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ANKRA2_chr5_73547190_73570639 | 73563675 | G | GTATTTTG others(40): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 390 | 0.0026 | 47 | c.-10 others(64): Show |
ANKRA2 | ENSG00000164331.10 | transcript | ENST00000296785.8 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
ANKRD10_chr13_110873540_110920069 | 110892416 | C | CAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG02074.hp1 HG03491.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 a0001c0001t0001g0245 |
2 | 7 | 0.2857 | 47 | c.691 others(62): Show |
ANKRD10 | ENSG00000088448.14 | transcript | ENST00000267339.6 | protein_coding | 4/5 | chr13 | TogoVar | |||||||
ANKRD11_chr16_89262630_89495561 | 89390139 | C | CAGAGAAG others(40): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02896.hp2 HG03130.hp1 others(2): Show |
a0001a0002a0012 | a0001c0022a0002c0002a0012c0029others(1): Show | a0001c0022t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0022t0001g0263 a0002c0002t0001g0220 a0002c0002t0002g0221 others(2): Show |
5 | 307 | 0.0163 | 47 | c.-60 others(66): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
ANKRD12_chr18_9131781_9290985 | 9196122 | C | CACACACA others(40): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0060 | 1 | 285 | 0.0035 | 47 | c.235 others(62): Show |
ANKRD12 | ENSG00000101745.17 | transcript | ENST00000262126.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ANKRD27_chr19_32592006_32680180 | 32656103 | G | GAAAGAAA others(40): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0167 | 1 | 256 | 0.0039 | 47 | c.102 others(64): Show |
ANKRD27 | ENSG00000105186.16 | transcript | ENST00000306065.9 | protein_coding | 2/28 | chr19 | TogoVar | |||||||
ANKRD27_chr19_32592006_32680180 | 32656103 | G | GAAAGAAA others(40): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0033 | a0001c0033t0002 | a0001c0033t0002g0007 | 1 | 256 | 0.0039 | 47 | c.102 others(64): Show |
ANKRD27 | ENSG00000105186.16 | transcript | ENST00000306065.9 | protein_coding | 2/28 | chr19 | TogoVar | |||||||
ANKRD45_chr1_173603336_173674851 | 173613465 | G | GCAGCCCC others(40): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0302 | 1 | 338 | 0.0030 | 47 | c.731 others(64): Show |
ANKRD45 | ENSG00000183831.7 | transcript | ENST00000333279.3 | protein_coding | 5/5 | chr1 | TogoVar | |||||||
ANKRD45_chr1_173603336_173674851 | 173613465 | G | GCAGCCCC others(40): Show |
intron_variant | MODIFIER | HG03098.hp2 NA19030.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0042 a0002c0002t0002g0051 |
2 | 339 | 0.0059 | 47 | c.731 others(64): Show |
ANKRD45 | ENSG00000183831.7 | transcript | ENST00000333279.3 | protein_coding | 5/5 | chr1 | TogoVar | |||||||
ANKRD45_chr1_173603336_173674851 | 173613490 | C | CGTCCGGG others(40): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0027 | 1 | 327 | 0.0031 | 47 | c.731 others(64): Show |
ANKRD45 | ENSG00000183831.7 | transcript | ENST00000333279.3 | protein_coding | 5/5 | chr1 | TogoVar | |||||||
ANKS1B_chr12_98738974_99989936 | 99139440 | T | TTTCTTTC others(40): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0035 | 1 | 2 | 0.5000 | 47 | c.252 others(68): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 15/26 | chr12 | TogoVar | |||||||
API5_chr11_43306996_43349529 | 43311165 | A | ATATATAT others(40): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(102): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(61): Show |
105 | 376 | 0.2793 | 47 | c.-96 others(56): Show |
API5 | ENSG00000166181.13 | transcript | ENST00000531273.6 | protein_coding | 830 | chr11 | TogoVar | |||||||
APOBEC1_chr12_7644400_7670908 | 7660375 | G | GGAAGGAA others(40): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0132 | 1 | 98 | 0.0102 | 47 | c.16+ others(62): Show |
APOBEC1 | ENSG00000111701.7 | transcript | ENST00000229304.5 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
APOBEC3B_chr22_38977347_38997779 | 38988683 | C | CTCTCTCT others(40): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0137 | 1 | 82 | 0.0122 | 47 | c.570 others(62): Show |
APOBEC3B | ENSG00000179750.16 | transcript | ENST00000333467.4 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ARFGEF2_chr20_48916711_49041693 | 48936217 | A | ACCTCCCG others(40): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01891.hp1 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0001 a0001c0002t0005g0015 a0001c0002t0005g0016 others(10): Show |
14 | 350 | 0.0400 | 47 | c.122 others(64): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARFIP1_chr4_152774954_152917357 | 152804297 | A | ATTATATA others(40): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02818.hp2 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0335 a0001c0002t0002g0336 a0001c0002t0002g0337 |
3 | 337 | 0.0089 | 47 | c.-10 others(66): Show |
ARFIP1 | ENSG00000164144.16 | transcript | ENST00000353617.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARHGAP1_chr11_46672080_46705619 | 46700858 | C | CGGGGGGG others(40): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 342 | 0.0029 | 47 | c.-35 others(56): Show |
ARHGAP1 | ENSG00000175220.12 | transcript | ENST00000311956.9 | protein_coding | 240 | chr11 | TogoVar | |||||||
ARHGAP24_chr4_85470150_86007666 | 85521405 | A | AAAAGTAA others(40): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG01070.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0016 others(19): Show |
22 | 108 | 0.2037 | 47 | c.-21 others(66): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARHGAP26_chr5_142765377_143234007 | 142949232 | G | GAGAGAGA others(40): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 100 | 0.0100 | 47 | c.110 others(68): Show |
ARHGAP26 | ENSG00000145819.18 | transcript | ENST00000645722.2 | protein_coding | 11/22 | chr5 | TogoVar | |||||||
ARHGAP28_chr18_6724716_6920716 | 6841210 | T | TCTCTCTC others(40): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 241 | 0.0041 | 47 | c.543 others(64): Show |
ARHGAP28 | ENSG00000088756.13 | transcript | ENST00000383472.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ARHGAP6_chrX_11132544_11670920 | 11567566 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0016 | 1 | 112 | 0.0089 | 47 | c.588 others(66): Show |
ARHGAP6 | ENSG00000047648.23 | transcript | ENST00000337414.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
ARHGAP6_chrX_11132544_11670920 | 11590866 | G | GAAAAGAA others(40): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 141 | 0.0071 | 47 | c.588 others(66): Show |
ARHGAP6 | ENSG00000047648.23 | transcript | ENST00000337414.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
ARHGDIG_chr16_275591_288010 | 285925 | T | TCCCAACC others(40): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0007 a0001c0001t0014g0007 |
3 | 411 | 0.0073 | 47 | c.*31 others(58): Show |
ARHGDIG | ENSG00000242173.10 | transcript | ENST00000219409.8 | protein_coding | 2916 | chr16 | TogoVar |