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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(3125): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00621.hp1 others(7): Show |
a0001 | a0001c0001a0001c0021 | a0001c0001t0003a0001c0001t0019a0001c0021t0003 | a0001c0001t0003g0205a0001c0001t0003g0206a0001c0001t0003g0209others(7): Show | 10 | 274 | 0.0365 | 3132 | c.179 others(3151): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(3125): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0230 | 1 | 274 | 0.0037 | 3132 | c.179 others(3151): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(3125): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0207 | 1 | 274 | 0.0037 | 3132 | c.179 others(3151): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3125): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 264 | 0.0038 | 3132 | c.400 others(3151): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(3125): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0103 | 1 | 318 | 0.0031 | 3132 | c.-91 others(3153): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(3125): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0235 | 1 | 318 | 0.0031 | 3132 | c.-91 others(3153): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
LRCH1_chr13_46548170_46749898 | 46584009 | T | TAGAATAA others(3125): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0003 | a0001c0003t0033 | a0001c0003t0033g0217 | 1 | 274 | 0.0037 | 3132 | c.307 others(3151): Show |
LRCH1 | ENSG00000136141.15 | transcript | ENST00000389797.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(3125): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0023 | a0023c0086 | a0023c0086t0055 | a0023c0086t0055g0260 | 1 | 292 | 0.0034 | 3132 | c.218 others(3147): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17876836 | T | TAGAGAAG others(3125): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0017 | a0017c0019 | a0017c0019t0001 | a0017c0019t0001g0014 | 1 | 274 | 0.0037 | 3132 | c.224 others(3151): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
PASK_chr2_241101099_241154472 | 241116006 | G | GTCCCCAA others(3125): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0008 | a0008c0016 | a0008c0016t0001 | a0008c0016t0001g0107 | 1 | 376 | 0.0027 | 3132 | c.307 others(3149): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431777 | A | ATAGGGTG others(3125): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0200 | 1 | 376 | 0.0027 | 3132 | c.101 others(3151): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31431814 | C | CAGGGTGG others(3125): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0037 | 1 | 376 | 0.0027 | 3132 | c.101 others(3151): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31431975 | A | AGAGGGTG others(3125): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0014 | a0001c0014t0009 | a0001c0014t0009g0157 | 1 | 376 | 0.0027 | 3132 | c.101 others(3149): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AAAAGGGA others(3125): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0133 | 1 | 272 | 0.0037 | 3132 | c.389 others(3151): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | chr8 | TogoVar | ||||||
TUBA4B_chr2_219248243_219277197 | 219270701 | C | CCCGTCCC others(3125): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0213 | 1 | 350 | 0.0029 | 3132 | c.192 others(3147): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TUBA4B_chr2_219248243_219277197 | 219270701 | C | CCCGTCCC others(3125): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0143 | 1 | 350 | 0.0029 | 3132 | c.192 others(3147): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ARFGEF2_chr20_48916711_49041693 | 48961527 | T | TAACTTTT others(3126): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0346 | 1 | 352 | 0.0028 | 3133 | c.839 others(3150): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(3126): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 298 | 0.0034 | 3133 | c.955 others(3150): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DIP2C_chr10_269201_694668 | 516747 | T | TAGGGTGG others(3126): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0016 | a0001c0016t0009 | a0001c0016t0009g0073 | 1 | 88 | 0.0114 | 3133 | c.86- others(3150): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3126): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 264 | 0.0038 | 3133 | c.400 others(3152): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(3126): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0012 | a0012c0010 | a0012c0010t0001 | a0012c0010t0001g0121 | 1 | 292 | 0.0034 | 3133 | c.218 others(3148): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
TUBA4B_chr2_219248243_219277197 | 219270701 | C | CCCGTCCC others(3126): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0005 | a0005c0005 | a0005c0005t0005 | a0005c0005t0005g0261 | 1 | 350 | 0.0029 | 3133 | c.192 others(3148): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACACA_chr17_37079992_37411836 | 37398694 | C | CTGTCTCA others(3127): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0195 | 1 | 299 | 0.0033 | 3134 | c.38+ others(3149): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(3127): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0187 | 1 | 318 | 0.0031 | 3134 | c.-91 others(3155): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3127): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 279 | 0.0036 | 3134 | c.*27 others(3145): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(3127): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0141 | 1 | 158 | 0.0063 | 3134 | c.284 others(3153): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3127): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02280.hp2 NA18942.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0011a0002c0001others(1): Show | a0001c0002t0019a0001c0011t0001a0002c0001t0003others(1): Show | a0001c0002t0019g0102a0001c0011t0001g0034a0002c0001t0003g0002others(1): Show | 4 | 128 | 0.0313 | 3134 | c.68- others(3151): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACA_chr17_37079992_37411836 | 37398694 | C | CTGTCTCA others(3128): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0075 | 1 | 299 | 0.0033 | 3135 | c.38+ others(3150): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37398694 | C | CTGTCTCA others(3128): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00558.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(8): Show | a0001c0001t0001g0059a0001c0001t0001g0076a0001c0001t0001g0083others(31): Show | 34 | 299 | 0.1137 | 3135 | c.38+ others(3150): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37398694 | C | CTGTCTCA others(3128): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050 | 1 | 299 | 0.0033 | 3135 | c.38+ others(3150): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37398694 | C | CTGTCTCA others(3128): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0236 | 1 | 299 | 0.0033 | 3135 | c.38+ others(3150): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37398694 | C | CTGTCTCA others(3128): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0105 | 1 | 299 | 0.0033 | 3135 | c.38+ others(3150): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
RFC1_chr4_39282456_39371362 | 39348426 | A | AGGAAAGG others(3128): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0072 | 1 | 276 | 0.0036 | 3135 | c.132 others(3152): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | ||||||
RTEL1_chr20_63653312_63701245 | 63693525 | A | ACCACCAC others(3128): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 60 | 0.0167 | 3135 | c.299 others(3152): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3128): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0066 | 1 | 203 | 0.0049 | 3135 | c.-12 others(3154): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3128): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01071.hp2 HG01074.hp2 others(16): Show |
a0001a0002a0006others(1): Show | a0001c0002a0001c0003a0001c0004others(11): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(14): Show | a0001c0002t0001g0009a0001c0002t0001g0015a0001c0003t0001g0088others(16): Show | 19 | 128 | 0.1484 | 3135 | c.68- others(3152): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3128): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0044 | 1 | 128 | 0.0078 | 3135 | c.68- others(3152): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TNFRSF6B_chr20_63691652_63703684 | 63693525 | A | ACCACCAC others(3128): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 33 | 0.0303 | 3135 | c.-32 others(3146): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 3126 | chr20 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37398694 | C | CTGTCTCA others(3129): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0114 | 1 | 299 | 0.0033 | 3136 | c.38+ others(3151): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37398694 | C | CTGTCTCA others(3129): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 299 | 0.0033 | 3136 | c.38+ others(3151): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37398694 | C | CTGTCTCA others(3129): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02809.hp2 others(1): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0005a0001c0006t0005 | a0001c0004t0005g0117a0001c0004t0005g0118a0001c0004t0005g0120others(1): Show | 4 | 299 | 0.0134 | 3136 | c.38+ others(3151): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37398694 | C | CTGTCTCA others(3129): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02647.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0005 | a0001c0001t0003g0045a0001c0004t0005g0044 | 2 | 299 | 0.0067 | 3136 | c.38+ others(3151): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37398694 | C | CTGTCTCA others(3129): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG02451.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(1): Show | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0096others(4): Show | 7 | 299 | 0.0234 | 3136 | c.38+ others(3151): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37398694 | C | CTGTCTCA others(3129): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02523.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0228a0001c0001t0015g0226 | 2 | 299 | 0.0067 | 3136 | c.38+ others(3151): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37398694 | C | CTGTCTCA others(3129): Show |
intron_variant | MODIFIER | NA19005.hp1 NA19009.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0149a0001c0002t0001g0150 | 2 | 299 | 0.0067 | 3136 | c.38+ others(3151): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37398694 | C | CTGTCTCA others(3129): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 299 | 0.0033 | 3136 | c.38+ others(3151): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37398694 | C | CTGTCTCA others(3129): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(184): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0099a0001c0001t0001g0136a0001c0001t0001g0138others(184): Show | 187 | 299 | 0.6254 | 3136 | c.38+ others(3151): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37398694 | C | CTGTCTCA others(3129): Show |
intron_variant | MODIFIER | NA18973.hp2 NA18994.hp2 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027 | a0001c0001t0001g0196a0001c0001t0001g0197a0001c0001t0027g0291 | 3 | 299 | 0.0100 | 3136 | c.38+ others(3151): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37398694 | C | CTGTCTCA others(3129): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0243 | 1 | 299 | 0.0033 | 3136 | c.38+ others(3151): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37398694 | C | CTGTCTCA others(3129): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0018 | a0001c0001t0001g0053a0001c0001t0003g0051a0001c0001t0003g0052others(2): Show | 5 | 299 | 0.0167 | 3136 | c.38+ others(3151): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar |