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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1089): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0196 | 1 | 360 | 0.0028 | 1096 | c.170 others(1117): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1089): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0355 | 1 | 360 | 0.0028 | 1096 | c.170 others(1117): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1089): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(108): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0005a0001c0064others(38): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(47): Show | a0001c0001t0001g0054a0001c0001t0001g0138a0001c0001t0001g0182others(108): Show | 111 | 360 | 0.3083 | 1096 | c.170 others(1117): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1089): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01891.hp1 HG02630.hp1 |
a0001a0005a0026 | a0001c0001a0005c0015a0026c0029 | a0001c0001t0001a0005c0015t0004a0026c0029t0001 | a0001c0001t0001g0114a0005c0015t0004g0281a0026c0029t0001g0280 | 3 | 360 | 0.0083 | 1096 | c.170 others(1117): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1089): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0298 | 1 | 360 | 0.0028 | 1096 | c.170 others(1117): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1089): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0008 | a0008c0009 | a0008c0009t0002 | a0008c0009t0002g0222 | 1 | 360 | 0.0028 | 1096 | c.170 others(1117): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1089): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0027 | a0027c0028 | a0027c0028t0001 | a0027c0028t0001g0243 | 1 | 360 | 0.0028 | 1096 | c.170 others(1117): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1089): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0003 | a0003c0010 | a0003c0010t0002 | a0003c0010t0002g0226 | 1 | 360 | 0.0028 | 1096 | c.170 others(1117): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1089): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01515.hp2 |
a0005 | a0005c0006a0005c0015 | a0005c0006t0001a0005c0015t0002 | a0005c0006t0001g0157a0005c0015t0002g0160 | 2 | 360 | 0.0056 | 1096 | c.170 others(1117): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1089): Show |
intron_variant | MODIFIER | HG01106.hp1 HG03927.hp2 |
a0004a0009 | a0004c0004a0009c0020 | a0004c0004t0024a0009c0020t0001 | a0004c0004t0024g0320a0009c0020t0001g0161 | 2 | 360 | 0.0056 | 1096 | c.170 others(1117): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1089): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0292 | 1 | 360 | 0.0028 | 1096 | c.170 others(1117): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1089): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01257.hp1 HG01258.hp2 others(9): Show |
a0001a0004 | a0001c0001a0001c0005a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(3): Show | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0152others(9): Show | 12 | 360 | 0.0333 | 1096 | c.170 others(1117): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1089): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0077 | a0001c0077t0001 | a0001c0077t0001g0245 | 1 | 360 | 0.0028 | 1096 | c.170 others(1117): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCTG others(1089): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG01106.hp2 others(2): Show |
a0003a0008 | a0003c0002a0008c0009 | a0003c0002t0001a0003c0002t0002a0008c0009t0001 | a0003c0002t0001g0207a0003c0002t0001g0218a0003c0002t0001g0326others(2): Show | 5 | 360 | 0.0139 | 1096 | c.170 others(1117): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(1089): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 182 | 0.0055 | 1096 | c.505 others(1115): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251448 | G | GGAAGGGG others(1089): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0016 | 1 | 242 | 0.0041 | 1096 | c.927 others(1113): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251448 | G | GGAAGGGG others(1089): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0017 | 1 | 242 | 0.0041 | 1096 | c.927 others(1113): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687228 | C | CCCCGTGA others(1089): Show |
upstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0109 | 1 | 246 | 0.0041 | 1096 | c.-16 others(1107): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1383 | chr8 | TogoVar | ||||||
ARID1B_chr6_156772378_157215779 | 157147227 | A | ACCCCCGC others(1089): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 150 | 0.0067 | 1096 | c.276 others(1115): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9406340 | A | AGGCTTCC others(1089): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0059 | 1 | 210 | 0.0048 | 1096 | c.*30 others(1107): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 663 | chr2 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181720 | C | CACATACA others(1089): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0387 | 1 | 460 | 0.0022 | 1096 | c.193 others(1113): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1089): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0031 | a0031c0043 | a0031c0043t0001 | a0031c0043t0001g0248 | 1 | 384 | 0.0026 | 1096 | c.273 others(1111): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58798137 | T | TAAGAAAT others(1089): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 204 | 0.0049 | 1096 | c.223 others(1115): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1089): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0024 | a0024c0039 | a0024c0039t0001 | a0024c0039t0001g0063 | 1 | 278 | 0.0036 | 1096 | c.328 others(1113): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585391 | G | GTCCCTGG others(1089): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0167 | 1 | 236 | 0.0042 | 1096 | c.294 others(1113): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647303 | A | ACCCCTAC others(1089): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG01070.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0010a0001c0001t0001g0013a0001c0001t0001g0216others(9): Show | 12 | 276 | 0.0435 | 1096 | c.*51 others(1107): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1959 | chr15 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725406 | A | AGAGGGAG others(1089): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0244 | 1 | 324 | 0.0031 | 1096 | c.340 others(1113): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1089): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0004 | a0004c0176 | a0004c0176t0001 | a0004c0176t0001g0026 | 1 | 252 | 0.0040 | 1096 | c.118 others(1115): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1089): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0061 | a0061c0133 | a0061c0133t0003 | a0061c0133t0003g0248 | 1 | 252 | 0.0040 | 1096 | c.118 others(1115): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
EGFR_chr7_55014017_55216628 | 55167217 | C | CGGTGGTG others(1089): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0241 | 1 | 250 | 0.0040 | 1096 | c.188 others(1115): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137716460 | T | TGGGGGGG others(1089): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0004 | a0004c0017 | a0004c0017t0001 | a0004c0017t0001g0007 | 1 | 170 | 0.0059 | 1096 | c.86- others(1109): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HS3ST4_chr16_25686959_26142685 | 25965072 | T | TAAAAAAG others(1089): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0083 | 1 | 164 | 0.0061 | 1096 | c.735 others(1117): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(1089): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0221 | a0001c0001t0221g0175 | 1 | 276 | 0.0036 | 1096 | c.*65 others(1107): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406340 | A | AGGCTTCC others(1089): Show |
3_prime_UTR_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0224 | a0001c0001t0224g0244 | 1 | 276 | 0.0036 | 1096 | c.*49 others(1105): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 493 | chr2 | TogoVar | |||||
KREMEN1_chr22_29068035_29151820 | 29120429 | G | GGGAGAGG others(1089): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0288 | 1 | 368 | 0.0027 | 1096 | c.353 others(1111): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(1089): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0092 | 1 | 330 | 0.0030 | 1096 | c.-5+ others(1111): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2295687 | G | GACAGAGA others(1089): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 | 1 | 104 | 0.0096 | 1096 | c.-52 others(1117): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 1/24 | chr2 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124439072 | C | CAGAGACA others(1089): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0035 | a0035c0098 | a0035c0098t0007 | a0035c0098t0007g0178 | 1 | 234 | 0.0043 | 1096 | c.816 others(1113): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(1089): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0110 | 1 | 208 | 0.0048 | 1096 | c.279 others(1111): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | ||||||
OR11H4_chr14_20234286_20249349 | 20237775 | A | ATATATAC others(1089): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0245a0001c0001t0002g0242 | 2 | 439 | 0.0046 | 1096 | c.-15 others(1107): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1510 | chr14 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109354509 | T | TATAGATT others(1089): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02145.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0062a0003c0003t0002g0298 | 2 | 346 | 0.0058 | 1096 | c.176 others(1115): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 166201 | C | CGGGGCGG others(1089): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0006 | a0006c0021 | a0006c0021t0056 | a0006c0021t0056g0199 | 1 | 210 | 0.0048 | 1096 | c.347 others(1115): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(1089): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 420 | 0.0024 | 1096 | c.107 others(1113): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1090): Show |
intron_variant | MODIFIER | HG01433.hp1 NA18979.hp2 |
a0003a0005 | a0003c0010a0005c0006 | a0003c0010t0001a0005c0006t0001 | a0003c0010t0001g0203a0005c0006t0001g0335 | 2 | 360 | 0.0056 | 1097 | c.170 others(1118): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1090): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01109.hp1 HG02145.hp2 others(1): Show |
a0001a0004a0005others(1): Show | a0001c0005a0004c0004a0005c0006others(1): Show | a0001c0005t0001a0004c0004t0001a0005c0006t0001others(1): Show | a0001c0005t0001g0311a0004c0004t0001g0337a0005c0006t0001g0154others(1): Show | 4 | 360 | 0.0111 | 1097 | c.170 others(1118): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1090): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0290 | 1 | 360 | 0.0028 | 1097 | c.170 others(1118): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1090): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0003 | 1 | 360 | 0.0028 | 1097 | c.170 others(1118): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1090): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0198 | 1 | 360 | 0.0028 | 1097 | c.170 others(1118): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1090): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02135.hp1 HG03831.hp2 others(1): Show |
a0002a0004a0006others(1): Show | a0002c0003a0004c0008a0006c0019others(1): Show | a0002c0003t0001a0004c0008t0001a0006c0019t0001others(1): Show | a0002c0003t0001g0349a0004c0008t0001g0139a0006c0019t0001g0303others(1): Show | 4 | 360 | 0.0111 | 1097 | c.170 others(1118): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1090): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0151 | 1 | 360 | 0.0028 | 1097 | c.170 others(1118): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |