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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC57_chr17_82096470_82217842 | 82148365 | G | GTGGGTGG others(591): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0216 | 1 | 122 | 0.0082 | 598 | c.245 others(617): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 15/18 | chr17 | TogoVar | |||||||
CCDC57_chr17_82096470_82217842 | 82148365 | G | GTGGGTGG others(591): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0038 | 1 | 122 | 0.0082 | 598 | c.245 others(617): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 15/18 | chr17 | TogoVar | |||||||
CCDC57_chr17_82096470_82217842 | 82148365 | G | GTGGGTGG others(591): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG00735.hp1 others(42): Show |
a0002a0013a0015others(3): Show | a0002c0002a0002c0003a0002c0009others(5): Show | a0002c0002t0001a0002c0002t0006a0002c0003t0002others(6): Show | a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 others(42): Show |
45 | 166 | 0.2711 | 598 | c.245 others(617): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 15/18 | chr17 | TogoVar | |||||||
CCDC57_chr17_82096470_82217842 | 82148365 | G | GTGGGTGG others(591): Show |
intron_variant | MODIFIER | NA19004.hp1 NA19090.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0234 a0002c0002t0001g0236 |
2 | 123 | 0.0163 | 598 | c.245 others(617): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 15/18 | chr17 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293498 | A | ACCCGCCA others(591): Show |
intron_variant | MODIFIER | HG01192.hp1 HG03195.hp1 NA18522.hp1 |
a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0021 a0001c0014t0001g0068 a0001c0014t0001g0070 |
3 | 231 | 0.0130 | 598 | c.411 others(615): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293570 | C | CCACCTTC others(591): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0001 | 2 | 242 | 0.0083 | 598 | c.411 others(615): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132822204 | G | GTGCAGTG others(591): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0009 | a0009c0043 | a0009c0043t0001 | a0009c0043t0001g0209 | 1 | 244 | 0.0041 | 598 | c.711 others(617): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63354015 | G | GGTCCTAG others(591): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01081.hp1 |
a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0008 | 2 | 157 | 0.0127 | 598 | c.383 others(615): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 4/5 | chr20 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89580331 | G | GTCACACG others(591): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0009 | 1 | 339 | 0.0029 | 598 | c.357 others(615): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89580331 | G | GTCACACG others(591): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001a0001c0008a0001c0009others(1): Show | a0001c0001t0001a0001c0008t0002a0001c0008t0005others(2): Show | a0001c0001t0001g0171 a0001c0008t0002g0016 a0001c0008t0005g0018 others(2): Show |
5 | 343 | 0.0146 | 598 | c.357 others(615): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89597938 | C | CCCCCGCC others(591): Show |
downstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0234 | 1 | 3 | 0.3333 | 598 | c.*13 others(609): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 693 | chr16 | TogoVar | |||||||
DECR2_chr16_396885_417482 | 397716 | G | GTGAGGGA others(591): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 279 | 0.0036 | 598 | c.-42 others(609): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4168 | chr16 | TogoVar | |||||||
DPP6_chr7_154047398_154899285 | 154779104 | C | CACCACCA others(591): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0015 | a0001c0015t0017 | a0001c0015t0017g0036 | 1 | 38 | 0.0263 | 598 | c.113 others(617): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 659419 | G | GCATCCTG others(591): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0256 | 1 | 185 | 0.0054 | 598 | c.*51 others(609): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4780 | chr8 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355678 | T | TGGAGGAA others(591): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0032 | 1 | 42 | 0.0238 | 598 | c.757 others(613): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
GET4_chr7_871554_901436 | 889979 | G | GGGGTCTG others(591): Show |
intron_variant | MODIFIER | HG03130.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 a0001c0001t0001g0256 |
2 | 326 | 0.0061 | 598 | c.467 others(613): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GET4_chr7_871554_901436 | 889979 | G | GGGGTCTG others(591): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 325 | 0.0031 | 598 | c.467 others(613): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GET4_chr7_871554_901436 | 889979 | G | GGGGTCTG others(591): Show |
intron_variant | MODIFIER | NA19010.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018 | a0001c0001t0003g0063 a0001c0001t0018g0064 |
2 | 326 | 0.0061 | 598 | c.467 others(613): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GET4_chr7_871554_901436 | 889979 | G | GGGGTCTG others(591): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 325 | 0.0031 | 598 | c.467 others(613): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GET4_chr7_871554_901436 | 890019 | G | GGGGTCTG others(591): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 372 | 0.0027 | 598 | c.467 others(613): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053546 | A | ATTCCACA others(591): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 306 | 0.0033 | 598 | c.310 others(613): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
GPR173_chrX_53043789_53085615 | 53074114 | T | TTATATAT others(591): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0175 | 1 | 70 | 0.0143 | 598 | c.-97 others(615): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46635378 | C | CCCCCGCC others(591): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03688.hp2 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0050 | a0001c0001t0005g0112 a0001c0001t0005g0145 a0001c0001t0050g0147 |
3 | 313 | 0.0096 | 598 | c.163 others(615): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRK4_chr4_2958571_3045760 | 2961219 | T | TAGTAACT others(591): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0251 | 1 | 134 | 0.0075 | 598 | c.-28 others(609): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2351 | chr4 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 321751 | C | CAAAAAAA others(591): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 | a0007 | a0007c0011 | a0007c0011t0003 | a0007c0011t0003g0139 | 1 | 134 | 0.0075 | 598 | c.-29 others(609): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2956 | chrX | TogoVar | |||||||
HOMEZ_chr14_23267422_23291132 | 23280740 | A | ATTTTTTT others(591): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0007 | a0002c0007t0004 | a0002c0007t0004g0174 | 1 | 119 | 0.0084 | 598 | c.41- others(613): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
IFI35_chr17_43001784_43019456 | 43017098 | G | GAGGTTGC others(591): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01361.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 2 | 81 | 0.0247 | 598 | c.*27 others(609): Show |
IFI35 | ENSG00000068079.8 | transcript | ENST00000415816.7 | protein_coding | 2643 | chr17 | TogoVar | |||||||
IFI35_chr17_43001784_43019456 | 43017098 | G | GAGGTTGC others(591): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 80 | 0.0125 | 598 | c.*27 others(609): Show |
IFI35 | ENSG00000068079.8 | transcript | ENST00000415816.7 | protein_coding | 2643 | chr17 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(591): Show |
upstream_gene_variant | MODIFIER | NA19077.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0205 | 1 | 204 | 0.0049 | 598 | c.-36 others(609): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(591): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0170 | 1 | 204 | 0.0049 | 598 | c.-36 others(609): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
INO80_chr15_40973880_41121280 | 41031555 | A | AAGGGAGG others(591): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0029 | 1 | 181 | 0.0055 | 598 | c.290 others(617): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | |||||||
IQCB1_chr3_121764761_121840060 | 121786167 | T | TAAGAAAA others(591): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0110 | 1 | 233 | 0.0043 | 598 | c.127 others(617): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 12/14 | chr3 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 103637 | C | CGGGGCTC others(591): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0191 | 1 | 278 | 0.0036 | 598 | c.623 others(615): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132172974 | T | TCTCCCTC others(591): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0135 | 1 | 153 | 0.0065 | 598 | c.*11 others(619): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173147 | C | CCTCTCTC others(591): Show |
intron_variant | MODIFIER | HG04228.hp1 HG04228.hp2 |
a0002a0004 | a0002c0008a0004c0045 | a0002c0008t0017a0004c0045t0001 | a0002c0008t0017g0121 a0004c0045t0001g0090 |
2 | 142 | 0.0141 | 598 | c.*11 others(619): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(591): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 5 | 0.2000 | 598 | c.-41 others(613): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997264 | G | GCGGGGGA others(591): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0186 | 1 | 296 | 0.0034 | 598 | c.-22 others(609): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 406 | chr6 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471627 | T | TATGTATT others(591): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0120 | 1 | 28 | 0.0357 | 598 | c.125 others(615): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
LY75_chr2_159798355_159909756 | 159874319 | G | GTTTTGTA others(591): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03927.hp1 HG04115.hp1 others(1): Show |
a0005 | a0005c0006a0005c0024 | a0005c0006t0001a0005c0024t0001 | a0005c0006t0001g0021 a0005c0006t0001g0033 a0005c0024t0001g0020 others(1): Show |
4 | 43 | 0.0930 | 598 | c.197 others(617): Show |
LY75 | ENSG00000054219.11 | transcript | ENST00000263636.5 | protein_coding | 12/34 | chr2 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1930023 | C | CCCCACTG others(591): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0016 | 1 | 257 | 0.0039 | 598 | c.180 others(617): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
MAP3K15_chrX_19355059_19520508 | 19478121 | G | GGAGGGGG others(591): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0053 | 1 | 12 | 0.0833 | 598 | c.525 others(615): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7061804 | A | AATATATA others(591): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 108 | 0.0093 | 598 | c.-32 others(609): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3129 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7061870 | T | TATAATAT others(591): Show |
upstream_gene_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 257 | 0.0039 | 598 | c.-32 others(609): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3195 | chr19 | TogoVar | |||||||
MBNL3_chrX_132364320_132494038 | 132396705 | T | TATATAGA others(591): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0114 | 1 | 155 | 0.0065 | 598 | c.343 others(615): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(591): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 6 | 0.1667 | 598 | c.-8+ others(611): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(591): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 6 | 0.1667 | 598 | c.-8+ others(611): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767634 | C | CGCGTGGA others(591): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0045 | 1 | 335 | 0.0030 | 598 | c.159 others(615): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99588930 | T | TATATATG others(591): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 a0001c0001t0001g0117 |
2 | 360 | 0.0056 | 598 | c.394 others(613): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110690701 | T | TATATATA others(591): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0110 | 1 | 238 | 0.0042 | 598 | c.358 others(615): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NCAPG2_chr7_158626169_158709804 | 158667329 | G | GCCCTCCT others(591): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 122 | 0.0082 | 598 | c.148 others(617): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar |