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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGMO_chr7_15195317_15567015 | 15529638 | A | ATATAGTA others(784): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0215 | 1 | 236 | 0.0042 | 791 | c.409 others(810): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(784): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0297 | 1 | 298 | 0.0034 | 791 | c.955 others(808): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CDC34_chr19_526760_547087 | 540678 | G | GTGGCCAG others(784): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 328 | 0.0031 | 791 | c.498 others(806): Show |
CDC34 | ENSG00000099804.9 | transcript | ENST00000215574.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CFAP20DC_chr3_58737008_59055025 | 58786706 | T | TAAGATAT others(784): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18949.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0053a0001c0002t0002g0090 | 2 | 204 | 0.0098 | 791 | c.223 others(812): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | ||||||
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(784): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0111 | 1 | 410 | 0.0024 | 791 | c.138 others(810): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | ||||||
CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(784): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0075 | 1 | 382 | 0.0026 | 791 | c.*65 others(802): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(784): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0170a0001c0001t0003g0181 | 2 | 320 | 0.0063 | 791 | c.937 others(806): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45500581 | G | GGTGTGTT others(784): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01192.hp2 others(5): Show |
a0001a0029a0033others(2): Show | a0001c0013a0029c0071a0033c0077others(2): Show | a0001c0013t0002a0001c0013t0014a0029c0071t0002others(3): Show | a0001c0013t0002g0122a0001c0013t0002g0206a0001c0013t0002g0207others(5): Show | 8 | 292 | 0.0274 | 791 | c.268 others(810): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45500615 | G | GGTGTGTG others(784): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0017 | 1 | 292 | 0.0034 | 791 | c.268 others(810): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COX6A1_chr12_120433113_120445730 | 120437284 | T | TTCAGGAG others(784): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 HG02896.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0036a0001c0001t0002g0001 | 3 | 426 | 0.0070 | 791 | c.-84 others(800): Show |
COX6A1 | ENSG00000111775.3 | transcript | ENST00000229379.3 | protein_coding | 828 | chr12 | TogoVar | ||||||
COX6A1_chr12_120433113_120445730 | 120437284 | T | TTCAGGAG others(784): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 HG03490.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0002g0001a0001c0001t0002g0015 | 3 | 426 | 0.0070 | 791 | c.-84 others(800): Show |
COX6A1 | ENSG00000111775.3 | transcript | ENST00000229379.3 | protein_coding | 828 | chr12 | TogoVar | ||||||
COX6A1_chr12_120433113_120445730 | 120437284 | T | TTCAGGAG others(784): Show |
upstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 426 | 0.0024 | 791 | c.-84 others(800): Show |
COX6A1 | ENSG00000111775.3 | transcript | ENST00000229379.3 | protein_coding | 828 | chr12 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647358 | A | ACCCCTCC others(784): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0218 | 1 | 276 | 0.0036 | 791 | c.*52 others(802): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2014 | chr15 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647358 | A | ACCCCTCC others(784): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0098 | 1 | 276 | 0.0036 | 791 | c.*52 others(802): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2014 | chr15 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232265 | C | CGCCCACC others(784): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 396 | 0.0025 | 791 | c.513 others(806): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DCDC2C_chr2_3698575_3853008 | 3725467 | C | CGGTGGAT others(784): Show |
intron_variant | MODIFIER | NA18966.hp2 NA18978.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0139a0001c0002t0003g0155 | 2 | 324 | 0.0062 | 791 | c.340 others(808): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DCDC2C_chr2_3698575_3853008 | 3725531 | C | CGAGCAGA others(784): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0005 | a0005c0014 | a0005c0014t0013 | a0005c0014t0013g0241 | 1 | 324 | 0.0031 | 791 | c.340 others(808): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DCDC2C_chr2_3698575_3853008 | 3725566 | A | AGAGGAAG others(784): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0205a0002c0003t0001g0206 | 2 | 324 | 0.0062 | 791 | c.340 others(808): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(784): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 230 | 0.0044 | 791 | c.724 others(810): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DECR2_chr16_396885_417482 | 397709 | T | TGAGGGAG others(784): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0079 | 1 | 367 | 0.0027 | 791 | c.-42 others(802): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4175 | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619032 | G | GCCCCCCC others(784): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0133 | 1 | 250 | 0.0040 | 791 | c.-10 others(810): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FBXO47_chr17_38931432_38972403 | 38946697 | T | TAAAAATA others(784): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 344 | 0.0029 | 791 | c.617 others(808): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATAAA others(784): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 344 | 0.0029 | 791 | c.617 others(808): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATAAA others(784): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02135.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0051 | 2 | 344 | 0.0058 | 791 | c.617 others(808): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185119 | C | CCCCTTCT others(784): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0091 | 1 | 174 | 0.0058 | 791 | c.193 others(810): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
FOXP1_chr3_70949708_71588728 | 71435438 | A | AGGGAGGG others(784): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 96 | 0.0104 | 791 | c.-16 others(812): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGTCTC others(784): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 400 | 0.0025 | 791 | c.-5+ others(804): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GZMM_chr19_539053_554922 | 540678 | G | GTGGCCAG others(784): Show |
upstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0025 | 1 | 398 | 0.0025 | 791 | c.-33 others(802): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 3374 | chr19 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925853 | T | TGGATTGG others(784): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0123 | 1 | 376 | 0.0027 | 791 | c.666 others(808): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925857 | T | TTGGATGG others(784): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0219 | 1 | 376 | 0.0027 | 791 | c.666 others(808): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IL17REL_chr22_49986811_50017765 | 50009894 | T | TGGCGGCA others(784): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 440 | 0.0023 | 791 | c.103 others(808): Show |
IL17REL | ENSG00000188263.11 | transcript | ENST00000695950.1 | protein_coding | 1/14 | chr22 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997134 | T | TTGGGGGC others(784): Show |
upstream_gene_variant | MODIFIER | NA18994.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0349 | 1 | 375 | 0.0027 | 791 | c.-23 others(802): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 536 | chr6 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(784): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0133 | 1 | 186 | 0.0054 | 791 | c.956 others(808): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(784): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0010 | a0010c0016 | a0010c0016t0017 | a0010c0016t0017g0181 | 1 | 292 | 0.0034 | 791 | c.218 others(806): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767711 | G | GGCGTGGA others(784): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 388 | 0.0026 | 791 | c.159 others(808): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(784): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 330 | 0.0030 | 791 | c.-5+ others(806): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(784): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 330 | 0.0030 | 791 | c.-5+ others(806): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(784): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0247a0001c0001t0013g0305 | 2 | 330 | 0.0061 | 791 | c.-5+ others(806): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
NME4_chr16_392199_405754 | 397709 | T | TGAGGGAG others(784): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 356 | 0.0028 | 791 | c.91+ others(804): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132150624 | G | GCTCAACC others(784): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0232 | 1 | 294 | 0.0034 | 791 | c.902 others(806): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NOTCH1_chr9_136489433_136551048 | 136535607 | G | GGTGCAGG others(784): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0077 | 1 | 324 | 0.0031 | 791 | c.140 others(808): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(784): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 456 | 0.0022 | 791 | c.*31 others(802): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGAGGGG others(784): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02109.hp2 HG03041.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0025 | a0001c0001t0022a0001c0002t0005a0001c0002t0032others(1): Show | a0001c0001t0022g0078a0001c0002t0005g0044a0001c0002t0005g0165others(3): Show | 6 | 326 | 0.0184 | 791 | c.162 others(810): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45909792 | C | CCCCCCCA others(784): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 292 | 0.0034 | 791 | c.471 others(806): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
RPA3_chr7_7631518_7723607 | 7679098 | C | CATATATT others(784): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 308 | 0.0033 | 791 | c.-75 others(810): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 340766 | T | TCCCACCC others(784): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0032 | 1 | 133 | 0.0075 | 791 | c.-21 others(810): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495159 | T | TTTTATAT others(784): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0199 | 1 | 322 | 0.0031 | 791 | c.-93 others(808): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918972 | A | AGAAGGAG others(784): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18979.hp1 NA19004.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0003 | a0001c0001t0001g0239a0001c0001t0001g0242a0001c0009t0003g0240 | 3 | 314 | 0.0096 | 791 | c.916 others(808): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(784): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0129 | 1 | 370 | 0.0027 | 791 | c.284 others(810): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
SGSM2_chr17_2332501_2386054 | 2354939 | T | TGGGGAAG others(784): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02809.hp1 NA19043.hp1 |
a0001a0007a0027 | a0001c0001a0007c0007a0027c0015 | a0001c0001t0022a0007c0007t0001a0027c0015t0005 | a0001c0001t0022g0130a0007c0007t0001g0135a0027c0015t0005g0079 | 3 | 422 | 0.0071 | 791 | c.134 others(808): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |