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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TCF3_chr19_1604292_1657615 | 1629005 | C | CAGGGGGT others(978): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0002 | a0002c0001 | a0002c0001t0051 | a0002c0001t0051g0057 | 1 | 261 | 0.0038 | 985 | c.299 others(1002): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161948 | C | CACCCCTG others(978): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 12 | 0.0833 | 985 | c.*22 others(996): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 1980 | chr11 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311648 | C | CCCACTGT others(978): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18966.hp2 NA18975.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016a0001c0001t0022 | a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 others(2): Show |
5 | 342 | 0.0146 | 985 | c.327 others(1002): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM255B_chr13_113754226_113821995 | 113817328 | C | CGGGACAC others(978): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0098 | 1 | 167 | 0.0060 | 985 | c.*54 others(996): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 334 | chr13 | TogoVar | |||||||
TMEM63B_chr6_44122554_44160519 | 44146439 | G | GGAGATGT others(978): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0176 | 1 | 339 | 0.0029 | 985 | c.783 others(1000): Show |
TMEM63B | ENSG00000137216.19 | transcript | ENST00000323267.11 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870692 | C | CCCCACAC others(978): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 191 | 0.0052 | 985 | c.*35 others(1004): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(978): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0169 | 1 | 21 | 0.0476 | 985 | c.127 others(1002): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(979): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 153 | 0.0065 | 986 | c.130 others(1005): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(979): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0003 | 2 | 154 | 0.0130 | 986 | c.130 others(1005): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687461 | G | GGTGAGCA others(979): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01081.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0176 a0001c0006t0001g0185 |
2 | 147 | 0.0136 | 986 | c.-18 others(997): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1616 | chr8 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 82140243 | G | GGGGTGTC others(979): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0152 | 1 | 215 | 0.0047 | 986 | c.217 others(1005): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(979): Show |
intron_variant | MODIFIER | HG02723.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 a0001c0001t0001g0308 |
2 | 220 | 0.0091 | 986 | c.327 others(1003): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 410874 | A | ATCCTGGG others(979): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0062 | 1 | 316 | 0.0032 | 986 | c.-19 others(997): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1728 | chr19 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585467 | T | TGAGGGAA others(979): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0186 | 1 | 325 | 0.0031 | 986 | c.-22 others(1003): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585467 | T | TGAGGGAA others(979): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0001 | 2 | 326 | 0.0061 | 986 | c.-22 others(1003): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585521 | A | ATGTTGAG others(979): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0023 | 1 | 142 | 0.0070 | 986 | c.-22 others(1003): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585525 | T | TGAGGGAG others(979): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 261 | 0.0038 | 986 | c.-22 others(1003): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585554 | T | TGAGGGAG others(979): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0142 | 1 | 349 | 0.0029 | 986 | c.-22 others(1003): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(979): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 174 | 0.0057 | 986 | c.342 others(1007): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(979): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0021 | a0021c0019 | a0021c0019t0003 | a0021c0019t0003g0120 | 1 | 174 | 0.0057 | 986 | c.342 others(1007): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(979): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0290 | 1 | 6 | 0.1667 | 986 | c.380 others(1003): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(979): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 1 | 74 | 0.0135 | 986 | c.937 others(1001): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(979): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 302 | 0.0033 | 986 | c.513 others(1003): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
DMRT1_chr9_836697_974090 | 902041 | C | CTGGGATT others(979): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 300 | 0.0033 | 986 | c.822 others(1003): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49202969 | C | CGCCCGGC others(979): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 250 | 0.0040 | 986 | c.162 others(1005): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49202969 | C | CGCCCGGC others(979): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 | 1 | 250 | 0.0040 | 986 | c.162 others(1005): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49202969 | C | CGCCCGGC others(979): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 250 | 0.0040 | 986 | c.162 others(1005): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(979): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01891.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 others(12): Show |
15 | 102 | 0.1471 | 986 | c.*23 others(997): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 163376 | C | CCACAGAA others(979): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0004 | a0004c0011 | a0004c0011t0003 | a0004c0011t0003g0046 | 1 | 119 | 0.0084 | 986 | c.258 others(1003): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACAACCCA others(979): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 128 | 0.0078 | 986 | c.-43 others(997): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | |||||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(979): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01891.hp2 others(12): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0002t0005a0001c0002t0006others(1): Show | a0001c0002t0001g0003 a0001c0002t0001g0012 a0001c0002t0005g0006 others(3): Show |
15 | 142 | 0.1056 | 986 | c.-43 others(997): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(979): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 5 | 0.2000 | 986 | c.-41 others(1001): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859063 | G | GTGTCTCG others(979): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0120 | 1 | 214 | 0.0047 | 986 | c.153 others(1005): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
MAP3K15_chrX_19355059_19520508 | 19478070 | A | AGGGGGGA others(979): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0144 | 1 | 148 | 0.0068 | 986 | c.525 others(1003): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MERTK_chr2_111893607_112034561 | 111944498 | A | AATTCCTT others(979): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0007 | a0007c0007 | a0007c0007t0003 | a0007c0007t0003g0063 | 1 | 47 | 0.0213 | 986 | c.483 others(1001): Show |
MERTK | ENSG00000153208.19 | transcript | ENST00000295408.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446353 | G | GGAGTGAG others(979): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0216 | 1 | 173 | 0.0058 | 986 | c.641 others(1001): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237543820 | G | GGCACAGT others(979): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0098 | 1 | 269 | 0.0037 | 986 | c.153 others(1005): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(979): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0121 | 1 | 4 | 0.2500 | 986 | c.279 others(1001): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(979): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0252 | 1 | 24 | 0.0417 | 986 | c.371 others(1003): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(979): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0065 | 1 | 24 | 0.0417 | 986 | c.371 others(1003): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(979): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0031 | a0031c0030 | a0031c0030t0001 | a0031c0030t0001g0031 | 1 | 24 | 0.0417 | 986 | c.371 others(1003): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 398352 | G | GTACCCCC others(979): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0012 | 1 | 205 | 0.0049 | 986 | c.106 others(1003): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 398660 | G | GCATCACC others(979): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 73 | 0.0137 | 986 | c.106 others(1003): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 398691 | G | GTCACCTC others(979): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 157 | 0.0064 | 986 | c.106 others(1003): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492366 | C | CGGGAGAC others(979): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0005 | a0003c0005t0014 | a0003c0005t0014g0023 | 1 | 290 | 0.0034 | 986 | c.126 others(1005): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC1A2_chr11_35246205_35424558 | 35248682 | A | AGTGCATG others(979): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0004 | a0001c0004t0031 | a0001c0004t0031g0289 | 1 | 297 | 0.0034 | 986 | c.*12 others(999): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2522 | chr11 | TogoVar | |||||||
SLC1A2_chr11_35246205_35424558 | 35248706 | C | CTAGCAGT others(979): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02970.hp1 |
a0001 | a0001c0003 | a0001c0003t0058a0001c0003t0090 | a0001c0003t0058g0108 a0001c0003t0090g0302 |
2 | 304 | 0.0066 | 986 | c.*12 others(999): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2498 | chr11 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(979): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 28 | 0.0357 | 986 | c.-50 others(997): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(979): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG00642.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0028 |
3 | 30 | 0.1000 | 986 | c.-50 others(997): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157312884 | A | AGACTCAT others(979): Show |
intron_variant | MODIFIER | HG02132.hp1 HG04184.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 a0001c0001t0001g0138 a0001c0001t0001g0180 |
3 | 284 | 0.0106 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar |