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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(981): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0176 | 1 | 152 | 0.0066 | 988 | c.217 others(1007): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 384908 | T | TGGGCAAG others(981): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0111 |
2 | 61 | 0.0328 | 988 | c.*31 others(999): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 2792 | chr11 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185649 | T | TCAGCGTG others(981): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0233 | 1 | 308 | 0.0032 | 988 | c.300 others(1005): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(981): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0179 | 1 | 2 | 0.5000 | 988 | c.266 others(1005): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(981): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224 | 1 | 134 | 0.0075 | 988 | c.403 others(1003): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(981): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 16 | 0.0625 | 988 | c.164 others(1007): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(981): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0100 | 1 | 6 | 0.1667 | 988 | c.380 others(1005): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 665147 | G | GTCCTGGC others(981): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 216 | 0.0046 | 988 | c.150 others(1007): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 10/11 | chr11 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706317 | G | GATACATA others(981): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0206 | 1 | 276 | 0.0036 | 988 | c.228 others(1005): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706317 | G | GATACATA others(981): Show |
upstream_gene_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0185 | 1 | 353 | 0.0028 | 988 | c.-50 others(999): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4883 | chr4 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9406031 | G | GTGTCACT others(981): Show |
3_prime_UTR_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0131 | 1 | 152 | 0.0066 | 988 | c.*80 others(997): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 802 | chr2 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(981): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0209 | 1 | 207 | 0.0048 | 988 | c.126 others(1005): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
LINGO2_chr9_27932617_29218601 | 28189465 | G | GAGGGAGG others(981): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0040 | 1 | 44 | 0.0227 | 988 | c.-36 others(1009): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364393 | C | CCTTACAT others(981): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 110 | 0.0091 | 988 | c.129 others(1007): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(981): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0050 | 1 | 59 | 0.0169 | 988 | c.241 others(1007): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(981): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 59 | 0.0169 | 988 | c.241 others(1007): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
PARP10_chr8_143972158_143991460 | 143981746 | A | ATGGTGAT others(981): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0214 | 1 | 146 | 0.0068 | 988 | c.255 others(1007): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGTGTGAC others(981): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0071 | 1 | 210 | 0.0048 | 988 | c.227 others(1005): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79483437 | G | GGCCTCCC others(981): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0026 | 1 | 149 | 0.0067 | 988 | c.-31 others(1005): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(981): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 100 | 0.0100 | 988 | c.45- others(1003): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(981): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 10 | 0.1000 | 988 | c.-48 others(999): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(981): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0004 | a0004c0047 | a0004c0047t0060 | a0004c0047t0060g0055 | 1 | 192 | 0.0052 | 988 | c.89- others(1001): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 224 | 0.0045 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0331 | 1 | 224 | 0.0045 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | 225 | 0.0089 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0007 | a0007c0024 | a0007c0024t0001 | a0007c0024t0001g0252 | 1 | 224 | 0.0045 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 224 | 0.0045 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 224 | 0.0045 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0295 a0001c0001t0020g0294 |
2 | 225 | 0.0089 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0137 | 1 | 224 | 0.0045 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 224 | 0.0045 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0062 | 1 | 224 | 0.0045 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 224 | 0.0045 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01255.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0134 a0001c0001t0013g0179 |
2 | 225 | 0.0089 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18747.hp1 NA19080.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0004t0001g0276 |
3 | 226 | 0.0133 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 224 | 0.0045 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 224 | 0.0045 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | HG04199.hp1 NA18966.hp2 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 a0001c0001t0001g0212 a0001c0001t0001g0256 |
3 | 226 | 0.0133 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0265 | 1 | 224 | 0.0045 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 224 | 0.0045 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414498 | G | GGGGAAGG others(981): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0138 | 1 | 295 | 0.0034 | 988 | c.115 others(1005): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637512 | A | ATATTATA others(981): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 219 | 0.0046 | 988 | c.*73 others(999): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3978 | chr10 | TogoVar | |||||||
TBCD_chr17_82747065_82950914 | 82764813 | C | CTGTGCTC others(981): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG01069.hp2 others(8): Show |
a0001a0002 | a0001c0002a0001c0014a0001c0015others(2): Show | a0001c0002t0001a0001c0014t0001a0001c0015t0001others(4): Show | a0001c0002t0001g0261 a0001c0002t0001g0266 a0001c0002t0001g0268 others(8): Show |
11 | 278 | 0.0396 | 988 | c.333 others(1003): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 3/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747371 | G | GCTGGGGT others(981): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0143 | 1 | 282 | 0.0035 | 988 | c.189 others(1003): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747551 | G | GCTGGGGT others(981): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0270 | 1 | 252 | 0.0040 | 988 | c.189 others(1003): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM63B_chr6_44122554_44160519 | 44146439 | G | GGAGATGT others(981): Show |
intron_variant | MODIFIER | HG02148.hp1 NA18941.hp1 NA18942.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004a0002c0002t0011 | a0002c0002t0002g0165 a0002c0002t0002g0178 a0002c0002t0002g0190 others(6): Show |
11 | 349 | 0.0315 | 988 | c.783 others(1003): Show |
TMEM63B | ENSG00000137216.19 | transcript | ENST00000323267.11 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870635 | C | CCACACAC others(981): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 227 | 0.0044 | 988 | c.*35 others(1007): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(981): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 25 | 0.0400 | 988 | c.483 others(1003): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668924 | A | AGGAAGTG others(982): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0118 | 1 | 293 | 0.0034 | 989 | c.170 others(1010): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(982): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0023 | 1 | 44 | 0.0227 | 989 | c.108 others(1006): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar |