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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FMN2_chr1_240086883_240480187 | 240185031 | T | TTTCCCCT others(3993): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0066 | 1 | 170 | 0.0059 | 4000 | c.193 others(4019): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311194 | T | TCATCATA others(3994): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 314 | 0.0032 | 4001 | c.327 others(4018): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311194 | T | TCATCATA others(3994): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 314 | 0.0032 | 4001 | c.327 others(4018): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311194 | T | TCATCATA others(3994): Show |
intron_variant | MODIFIER | NA18965.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0151 a0001c0001t0004g0153 |
2 | 315 | 0.0063 | 4001 | c.327 others(4018): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(3995): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0135 | 1 | 23 | 0.0435 | 4002 | c.137 others(4019): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251271 | C | CACCCCCC others(3996): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0041 | 1 | 90 | 0.0111 | 4003 | c.207 others(4022): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586452 | G | GGGGGAAA others(3996): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0164 | 1 | 297 | 0.0034 | 4003 | c.157 others(4020): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(3997): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG02080.hp2 others(1): Show |
a0003 | a0003c0002 | a0003c0002t0001a0003c0002t0004 | a0003c0002t0001g0124 a0003c0002t0001g0213 a0003c0002t0004g0122 others(1): Show |
4 | 45 | 0.0889 | 4004 | c.179 others(4019): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(3997): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0097 a0001c0001t0007g0122 |
2 | 17 | 0.1176 | 4004 | c.164 others(4023): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 272938 | G | GAGAGACC others(3997): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0012 | a0002c0012t0005 | a0002c0012t0005g0020 | 1 | 130 | 0.0077 | 4004 | c.438 others(4021): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240184948 | T | TCCCCCTT others(3998): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0018 | a0001c0018t0004 | a0001c0018t0004g0070 | 1 | 134 | 0.0075 | 4005 | c.193 others(4024): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(3999): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0010 | a0002c0010t0033 | a0002c0010t0033g0135 | 1 | 42 | 0.0238 | 4006 | c.179 others(4021): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(4000): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01891.hp1 others(1): Show |
a0007a0010 | a0007c0007a0010c0014 | a0007c0007t0001a0010c0014t0001 | a0007c0007t0001g0005 a0007c0007t0001g0021 a0010c0014t0001g0001 |
4 | 45 | 0.0889 | 4007 | c.179 others(4022): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(4000): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0007 | a0007c0047 | a0007c0047t0002 | a0007c0047t0002g0308 | 1 | 42 | 0.0238 | 4007 | c.179 others(4022): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(4000): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02809.hp2 HG03453.hp1 others(1): Show |
a0003a0007a0009 | a0003c0002a0007c0007a0009c0029 | a0003c0002t0004a0007c0007t0001a0009c0029t0021 | a0003c0002t0004g0310 a0007c0007t0001g0309 a0007c0007t0001g0312 others(1): Show |
4 | 45 | 0.0889 | 4007 | c.179 others(4022): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(4000): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0004 | a0004c0037 | a0004c0037t0014 | a0004c0037t0014g0256 | 1 | 42 | 0.0238 | 4007 | c.179 others(4022): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(4000): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0005 | a0005c0005 | a0005c0005t0012 | a0005c0005t0012g0204 | 1 | 42 | 0.0238 | 4007 | c.179 others(4022): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(4000): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02165.hp1 HG02559.hp1 others(12): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0009a0002c0012others(7): Show | a0001c0001t0001a0002c0009t0001a0002c0012t0002others(7): Show | a0001c0001t0001g0109 a0001c0001t0001g0324 a0001c0001t0001g0326 others(12): Show |
15 | 56 | 0.2679 | 4007 | c.179 others(4022): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(4000): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 3 | 0.3333 | 4007 | c.*14 others(4018): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(4000): Show |
downstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 3 | 0.3333 | 4007 | c.*14 others(4018): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(4000): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0003 | 1 | 3 | 0.3333 | 4007 | c.*14 others(4018): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158915987 | G | GTTTACAC others(4000): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0022 | a0001c0022t0018 | a0001c0022t0018g0229 | 1 | 260 | 0.0038 | 4007 | c.179 others(4026): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323046 | A | ATGGAATA others(4000): Show |
upstream_gene_variant | MODIFIER | NA18980.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0235 | 1 | 321 | 0.0031 | 4007 | c.-20 others(4018): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1923 | chr21 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4000): Show |
upstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 8 | 0.1250 | 4007 | c.-45 others(4016): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
USP34_chr2_61182463_61476087 | 61191790 | G | GAAAAAGA others(4000): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0085 | 1 | 310 | 0.0032 | 4007 | c.958 others(4026): Show |
USP34 | ENSG00000115464.15 | transcript | ENST00000398571.7 | protein_coding | 76/79 | chr2 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158917089 | T | TACACGCT others(4002): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 64 | 0.0156 | 4009 | c.179 others(4028): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(4004): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0008 | a0002c0008t0024 | a0002c0008t0024g0248 | 1 | 42 | 0.0238 | 4011 | c.179 others(4026): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(4004): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0005 | 1 | 3 | 0.3333 | 4011 | c.*14 others(4022): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185033 | C | CCCCCTTC others(4004): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0046 | a0046c0084 | a0046c0084t0009 | a0046c0084t0009g0094 | 1 | 126 | 0.0079 | 4011 | c.193 others(4030): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(4005): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 154 | 0.0065 | 4012 | c.136 others(4029): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(4005): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0187 | 1 | 23 | 0.0435 | 4012 | c.137 others(4029): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(4005): Show |
downstream_gene_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 1 | 3 | 0.3333 | 4012 | c.*14 others(4023): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364375 | A | ACGCTTAC others(4005): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 259 | 0.0039 | 4012 | c.129 others(4031): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161760224 | T | TGAAAACA others(4005): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 18 | 0.0556 | 4012 | c.871 others(4031): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(4005): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0029 | 1 | 23 | 0.0435 | 4012 | c.284 others(4031): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150250953 | T | TCACACCC others(4006): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0022 | 1 | 69 | 0.0145 | 4013 | c.207 others(4032): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4006): Show |
upstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 4013 | c.-45 others(4022): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4006): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 4013 | c.-45 others(4022): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161760224 | T | TGAAAACA others(4006): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0007 | a0002c0007t0012 | a0002c0007t0012g0018 | 1 | 18 | 0.0556 | 4013 | c.871 others(4032): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4007): Show |
upstream_gene_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0184 | 1 | 8 | 0.1250 | 4014 | c.-45 others(4023): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
RAB3B_chr1_51902956_51995700 | 51906869 | A | AAGGGAAG others(4007): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 13 | 0.0769 | 4014 | c.*13 others(4027): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1086 | chr1 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432012 | T | TAGGGTGG others(4007): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0255 | 1 | 278 | 0.0036 | 4014 | c.101 others(4031): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161760224 | T | TGAAAACA others(4008): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0010 | 1 | 18 | 0.0556 | 4015 | c.871 others(4034): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161760224 | T | TGAAAACA others(4008): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 18 | 0.0556 | 4015 | c.871 others(4034): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161760224 | T | TGAAAACA others(4008): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01361.hp1 HG01884.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0003 | a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0002g0022 others(1): Show |
4 | 21 | 0.1905 | 4015 | c.871 others(4034): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161760224 | T | TGAAAACA others(4008): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03041.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0008a0003c0006t0002 | a0001c0001t0008g0020 a0003c0006t0002g0004 |
2 | 19 | 0.1053 | 4015 | c.871 others(4034): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
TRPM7_chr15_50552158_50691797 | 50564248 | A | AAAAATAA others(4008): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0004 | 1 | 121 | 0.0083 | 4015 | c.546 others(4034): Show |
TRPM7 | ENSG00000092439.16 | transcript | ENST00000646667.1 | protein_coding | 38/38 | chr15 | TogoVar | |||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(4009): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG01978.hp2 |
a0002a0003 | a0002c0003a0003c0005 | a0002c0003t0001a0003c0005t0001 | a0002c0003t0001g0001 a0003c0005t0001g0003 |
2 | 4 | 0.5000 | 4016 | c.*14 others(4027): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(4009): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 3 | 0.3333 | 4016 | c.*14 others(4027): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400563 | T | TCACCACC others(4009): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0004 | a0004c0039 | a0004c0039t0001 | a0004c0039t0001g0216 | 1 | 159 | 0.0063 | 4016 | c.323 others(4035): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |