regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(925): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0108 | 1 | 420 | 0.0024 | 932 | c.107 others(949): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(925): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0084 | 1 | 420 | 0.0024 | 932 | c.107 others(949): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(925): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0054 | 1 | 420 | 0.0024 | 932 | c.107 others(949): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(925): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 420 | 0.0024 | 932 | c.107 others(949): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(925): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0005 | a0002c0005t0009 | a0002c0005t0009g0388 | 1 | 420 | 0.0024 | 932 | c.107 others(949): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCTATC others(925): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0081 | 1 | 420 | 0.0024 | 932 | c.107 others(949): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCTATC others(925): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0274 | 1 | 420 | 0.0024 | 932 | c.107 others(949): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(925): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0131 | 1 | 420 | 0.0024 | 932 | c.107 others(949): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(925): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01943.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0074a0002c0002t0002g0097 | 2 | 420 | 0.0048 | 932 | c.107 others(949): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(925): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0120 | 1 | 420 | 0.0024 | 932 | c.107 others(949): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(925): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0124 | 1 | 420 | 0.0024 | 932 | c.107 others(949): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(925): Show |
intron_variant | MODIFIER | HG03654.hp2 NA20905.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005 | a0002c0002t0002g0067a0002c0002t0005g0123 | 2 | 420 | 0.0048 | 932 | c.107 others(949): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCTATC others(925): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0078 | 1 | 420 | 0.0024 | 932 | c.107 others(949): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414475 | T | TGGGGGGC others(925): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0059 | 1 | 373 | 0.0027 | 932 | c.115 others(949): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(925): Show |
downstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0044 | 1 | 268 | 0.0037 | 932 | c.*73 others(943): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273788 | C | CCGATCAC others(925): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 392 | 0.0026 | 932 | c.228 others(951): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1447592 | A | ACACCATC others(926): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02615.hp2 others(2): Show |
a0003a0006a0007 | a0003c0002a0006c0016a0007c0017 | a0003c0002t0001a0006c0016t0001a0007c0017t0001 | a0003c0002t0001g0165a0006c0016t0001g0166a0006c0016t0001g0169others(2): Show | 5 | 185 | 0.0270 | 933 | c.93+ others(948): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(926): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01346.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0011others(4): Show | a0001c0001t0003g0147a0001c0001t0003g0149a0001c0001t0009g0216others(9): Show | 12 | 226 | 0.0531 | 933 | c.217 others(952): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(926): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0112 | 1 | 226 | 0.0044 | 933 | c.217 others(952): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(926): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG02451.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004a0002c0002t0006others(4): Show | a0002c0002t0002g0126a0002c0002t0004g0046a0002c0002t0004g0083others(9): Show | 12 | 226 | 0.0531 | 933 | c.217 others(952): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(926): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0125 | 1 | 226 | 0.0044 | 933 | c.217 others(952): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(926): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01255.hp2 HG01346.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0019a0002c0002t0004a0002c0002t0006others(1): Show | a0001c0001t0019g0118a0002c0002t0004g0080a0002c0002t0004g0121others(9): Show | 12 | 226 | 0.0531 | 933 | c.217 others(952): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(926): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0052 | 1 | 226 | 0.0044 | 933 | c.217 others(952): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(926): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0055 | 1 | 226 | 0.0044 | 933 | c.217 others(952): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(926): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG01517.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(4): Show | a0001c0001t0001g0108a0001c0001t0003g0058a0001c0001t0003g0110others(11): Show | 14 | 226 | 0.0620 | 933 | c.217 others(952): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(926): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 226 | 0.0044 | 933 | c.217 others(952): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C8orf82_chr8_144520733_144534111 | 144531191 | A | AGAGCAGC others(926): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 398 | 0.0025 | 933 | c.-22 others(944): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar | ||||||
CALY_chr10_133319072_133341896 | 133334339 | G | GGGGGAAG others(926): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 250 | 0.0040 | 933 | c.-21 others(950): Show |
CALY | ENSG00000130643.9 | transcript | ENST00000252939.9 | protein_coding | 1/5 | chr10 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54133762 | C | CCTCTCTC others(926): Show |
upstream_gene_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0043 | 1 | 223 | 0.0045 | 933 | c.-42 others(944): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3999 | chr19 | TogoVar | ||||||
CTU2_chr16_88701503_88720396 | 88713126 | T | TGAGAGCC others(926): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0037 | a0001c0037t0001 | a0001c0037t0001g0095 | 1 | 418 | 0.0024 | 933 | c.738 others(948): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DBNDD1_chr16_89999871_90024456 | 90008154 | G | GTCCCAAG others(926): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02257.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0054a0001c0001t0001g0140others(1): Show | 6 | 412 | 0.0146 | 933 | c.319 others(948): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90008154 | G | GTCCCAAG others(926): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02280.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0124a0001c0001t0001g0131a0001c0001t0001g0137others(7): Show | 10 | 412 | 0.0243 | 933 | c.319 others(948): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90008154 | G | GTCCCAAG others(926): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 412 | 0.0024 | 933 | c.319 others(948): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90008154 | G | GTCCCAAG others(926): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 412 | 0.0024 | 933 | c.319 others(948): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90008154 | G | GTCCCAAG others(926): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 412 | 0.0024 | 933 | c.319 others(948): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14635300 | A | AGGGAGCT others(926): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03942.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0023a0001c0002t0002 | a0001c0001t0023g0122a0001c0002t0002g0074 | 2 | 148 | 0.0135 | 933 | c.113 others(952): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 13/25 | chr7 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(926): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00738.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0002a0001c0004t0002 | a0001c0001t0001g0161a0001c0001t0001g0165a0001c0001t0001g0167others(13): Show | 16 | 314 | 0.0510 | 933 | c.310 others(948): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(926): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 314 | 0.0032 | 933 | c.310 others(948): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(926): Show |
intron_variant | MODIFIER | HG02723.hp2 NA19240.hp1 |
a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0133a0002c0002t0010g0134 | 2 | 314 | 0.0064 | 933 | c.310 others(948): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218369 | C | CAACACCA others(926): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0004 | a0001c0004t0019 | a0001c0004t0019g0004 | 1 | 106 | 0.0094 | 933 | c.*28 others(944): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1200 | chr8 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(926): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 350 | 0.0029 | 933 | c.94- others(946): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(926): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 350 | 0.0029 | 933 | c.94- others(946): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(926): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0065 | 1 | 350 | 0.0029 | 933 | c.94- others(946): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(926): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0067 | 1 | 350 | 0.0029 | 933 | c.94- others(946): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(926): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0061 | 1 | 350 | 0.0029 | 933 | c.94- others(946): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399217 | C | CCACCACC others(926): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0301a0001c0001t0011g0149 | 2 | 314 | 0.0064 | 933 | c.-25 others(950): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
IFT140_chr16_1505427_1617072 | 1599469 | T | TGGGGGGG others(926): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0030 | 1 | 334 | 0.0030 | 933 | c.369 others(950): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(926): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 312 | 0.0032 | 933 | c.-41 others(948): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KIF25_chr6_167992671_168050091 | 167997183 | T | TGGGGGCG others(926): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG02895.hp2 |
a0006a0010 | a0006c0008a0010c0013 | a0006c0008t0016a0010c0013t0016 | a0006c0008t0016g0169a0010c0013t0016g0168 | 2 | 375 | 0.0053 | 933 | c.-22 others(944): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 487 | chr6 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(926): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0005 | a0005c0018 | a0005c0018t0001 | a0005c0018t0001g0118 | 1 | 186 | 0.0054 | 933 | c.956 others(950): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar |