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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(1969): Show |
intron_variant | MODIFIER | NA18522.hp1 NA18970.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0160 a0001c0002t0002g0006 |
2 | 17 | 0.1176 | 1976 | c.164 others(1995): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(1969): Show |
downstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0149 | 1 | 69 | 0.0145 | 1976 | c.*52 others(1987): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
GABRB1_chr4_47026567_47431447 | 47187112 | C | CAAAACTT others(1969): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 156 | 0.0064 | 1976 | c.461 others(1995): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTTC others(1969): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0102 | 1 | 270 | 0.0037 | 1976 | c.-5+ others(1989): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTTC others(1969): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01175.hp2 HG01496.hp1 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0033 | a0003c0003t0001g0014 a0003c0003t0001g0105 a0003c0003t0033g0014 |
7 | 276 | 0.0254 | 1976 | c.-5+ others(1989): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1969): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0113 | 1 | 15 | 0.0667 | 1976 | c.-5+ others(1989): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1969): Show |
intron_variant | MODIFIER | HG02148.hp1 HG02300.hp1 NA18953.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0010a0002c0002t0020 | a0002c0002t0001g0013 a0002c0002t0010g0013 a0002c0002t0020g0013 |
8 | 22 | 0.3636 | 1976 | c.-5+ others(1989): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1969): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0100 | 1 | 15 | 0.0667 | 1976 | c.-5+ others(1989): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1969): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0125 | 1 | 15 | 0.0667 | 1976 | c.-5+ others(1989): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1969): Show |
intron_variant | MODIFIER | HG02451.hp1 NA19030.hp2 |
a0002 | a0002c0002 | a0002c0002t0018a0002c0002t0022 | a0002c0002t0018g0043 a0002c0002t0022g0043 |
2 | 16 | 0.1250 | 1976 | c.-5+ others(1989): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1969): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG00673.hp1 others(40): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005a0002c0002t0017others(1): Show | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0005g0004 others(3): Show |
43 | 57 | 0.7544 | 1976 | c.-5+ others(1989): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62360617 | G | GATAGGTG others(1969): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0017 | a0017c0021 | a0017c0021t0001 | a0017c0021t0001g0081 | 1 | 184 | 0.0054 | 1976 | c.450 others(1993): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1969): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0204 a0001c0001t0014g0234 |
2 | 4 | 0.5000 | 1976 | c.340 others(1993): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(1969): Show |
downstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0193 | 1 | 9 | 0.1111 | 1976 | c.*39 others(1987): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TTTATACA others(1969): Show |
upstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 8 | 0.1250 | 1976 | c.-20 others(1987): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414446 | G | GGGAGGGG others(1969): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0013 | 1 | 306 | 0.0033 | 1976 | c.115 others(1993): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414484 | T | TGGAGGGG others(1969): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0119 | 1 | 113 | 0.0088 | 1976 | c.115 others(1993): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063860 | G | GAGGGAAG others(1969): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 154 | 0.0065 | 1976 | c.*54 others(1987): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2295 | chr13 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(1969): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0051 | 1 | 62 | 0.0161 | 1976 | c.*53 others(1987): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1970): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0011 | a0001c0011t0006 | a0001c0011t0006g0107 | 1 | 76 | 0.0132 | 1977 | c.955 others(1994): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1970): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 76 | 0.0132 | 1977 | c.955 others(1994): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1970): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0135 | 1 | 76 | 0.0132 | 1977 | c.955 others(1994): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911541 | C | CTGTCCTG others(1970): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0144 | 1 | 127 | 0.0079 | 1977 | c.101 others(1996): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(1970): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 4 | 0.2500 | 1977 | c.972 others(1990): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTTC others(1970): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0103 | 1 | 270 | 0.0037 | 1977 | c.-5+ others(1990): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1970): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0120 | 1 | 15 | 0.0667 | 1977 | c.-5+ others(1990): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1970): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03195.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028 | 3 | 17 | 0.1765 | 1977 | c.-5+ others(1990): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6034166 | T | TGAAAATT others(1970): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 a0001c0001t0001g0156 |
2 | 182 | 0.0110 | 1977 | c.237 others(1996): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 19/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6034166 | T | TGAAAATT others(1970): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 181 | 0.0055 | 1977 | c.237 others(1996): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 19/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6034166 | T | TGAAAATT others(1970): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01167.hp1 HG02109.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0075 others(18): Show |
21 | 201 | 0.1045 | 1977 | c.237 others(1996): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 19/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6034166 | T | TGAAAATT others(1970): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03098.hp2 HG03540.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0178 others(3): Show |
6 | 186 | 0.0323 | 1977 | c.237 others(1996): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 19/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6034166 | T | TGAAAATT others(1970): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 181 | 0.0055 | 1977 | c.237 others(1996): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 19/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6034166 | T | TGAAAATT others(1970): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02647.hp1 HG02809.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0006 a0001c0001t0001g0092 a0001c0001t0001g0212 others(11): Show |
14 | 194 | 0.0722 | 1977 | c.237 others(1996): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 19/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6034166 | T | TGAAAATT others(1970): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 181 | 0.0055 | 1977 | c.237 others(1996): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 19/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6034166 | T | TGAAAATT others(1970): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02970.hp2 HG03130.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0177 a0001c0001t0001g0205 a0001c0001t0001g0206 others(2): Show |
5 | 185 | 0.0270 | 1977 | c.237 others(1996): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 19/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6034166 | T | TGAAAATT others(1970): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 181 | 0.0055 | 1977 | c.237 others(1996): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 19/20 | chr4 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCTC others(1970): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0003 | a0003c0021 | a0003c0021t0001 | a0003c0021t0001g0023 | 1 | 17 | 0.0588 | 1977 | c.*11 others(1998): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1970): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 3 | 0.3333 | 1977 | c.340 others(1994): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1970): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 3 | 0.3333 | 1977 | c.340 others(1994): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(1970): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 28 | 0.0357 | 1977 | c.-50 others(1988): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200733 | C | CGGGGTCA others(1971): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0272 | 1 | 278 | 0.0036 | 1978 | c.955 others(1995): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1971): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0094 | 1 | 3 | 0.3333 | 1978 | c.219 others(1997): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241349 | C | CCCCTTCC others(1971): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0144 | 1 | 163 | 0.0061 | 1978 | c.107 others(1997): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241349 | C | CCCCTTCC others(1971): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 163 | 0.0061 | 1978 | c.107 others(1997): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1971): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 HG02717.hp2 others(5): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0001c0002t0006a0003c0004t0001 | a0001c0002t0001g0008 a0001c0002t0001g0156 a0001c0002t0001g0236 others(5): Show |
8 | 10 | 0.8000 | 1978 | c.340 others(1995): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1971): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 3 | 0.3333 | 1978 | c.340 others(1995): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1971): Show |
intron_variant | MODIFIER | HG01943.hp2 HG01981.hp2 HG01993.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0101 a0001c0001t0003g0220 a0001c0001t0003g0222 others(3): Show |
6 | 8 | 0.7500 | 1978 | c.340 others(1995): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1971): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 3 | 0.3333 | 1978 | c.340 others(1995): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1971): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 3 | 0.3333 | 1978 | c.340 others(1995): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(1971): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 8 | 0.1250 | 1978 | c.-20 others(1989): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar |