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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABR_chr17_998519_1184981 | 1118826 | T | TCTCCCCA others(23): Show |
intron_variant | MODIFIER | HG02738.hp2 NA18952.hp1 NA18954.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(1): Show | a0001c0001t0001g0089a0001c0001t0002g0095a0001c0001t0019g0057others(1): Show | 4 | 337 | 0.0119 | 30 | c.246 others(47): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1118828 | T | TCCCCAGC others(23): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18747.hp1 NA18952.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0144a0001c0001t0003g0143a0001c0001t0004g0329others(1): Show | 4 | 337 | 0.0119 | 30 | c.246 others(47): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1118828 | T | TCCCCAGC others(23): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0207 | 1 | 337 | 0.0030 | 30 | c.246 others(47): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1118854 | T | TCCTCCCA others(23): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0105 | 1 | 337 | 0.0030 | 30 | c.246 others(47): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1118855 | C | CCTCCCAG others(23): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0248 | 1 | 337 | 0.0030 | 30 | c.246 others(47): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1118967 | G | GTTCCTCC others(23): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02683.hp1 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0065a0001c0001t0090 | a0001c0001t0001g0065a0001c0001t0065g0137a0001c0001t0090g0301 | 3 | 337 | 0.0089 | 30 | c.246 others(47): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1119030 | T | TCCCCAGC others(23): Show |
intron_variant | MODIFIER | HG01517.hp1 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089a0001c0001t0001g0219 | 2 | 337 | 0.0059 | 30 | c.246 others(47): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1119083 | G | GTTCTCCC others(23): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02165.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0010a0001c0001t0019others(2): Show | a0001c0001t0002g0126a0001c0001t0010g0314a0001c0001t0019g0211others(2): Show | 5 | 337 | 0.0148 | 30 | c.246 others(47): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1119087 | T | TCCCCAGC others(23): Show |
intron_variant | MODIFIER | NA18967.hp1 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0032 | a0001c0001t0003g0080a0001c0001t0032g0303 | 2 | 337 | 0.0059 | 30 | c.246 others(47): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1119087 | T | TCCCCAGC others(23): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0181a0001c0001t0002g0180 | 2 | 337 | 0.0059 | 30 | c.246 others(47): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1119140 | G | GTCCTCCC others(23): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG01975.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0158a0001c0001t0002g0138a0001c0001t0002g0182others(11): Show | 14 | 337 | 0.0415 | 30 | c.246 others(47): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1119142 | T | TCCTCCCA others(23): Show |
intron_variant | MODIFIER | HG02135.hp1 HG04184.hp1 NA18747.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0055a0001c0001t0006g0142a0001c0001t0007g0288 | 3 | 337 | 0.0089 | 30 | c.246 others(47): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1119142 | T | TCTCCCCA others(23): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00621.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(27): Show | 30 | 337 | 0.0890 | 30 | c.246 others(47): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1119170 | T | TCCTCCCA others(23): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0333 | 1 | 337 | 0.0030 | 30 | c.246 others(47): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1119230 | T | TCCCCAGC others(23): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02109.hp1 NA18999.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0199a0001c0001t0003g0078a0001c0001t0005g0291others(2): Show | 5 | 337 | 0.0148 | 30 | c.246 others(47): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1119230 | T | TCCCCAGC others(23): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02080.hp1 HG02083.hp2 others(10): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0124a0001c0001t0001g0195a0001c0001t0003g0150others(10): Show | 13 | 337 | 0.0386 | 30 | c.246 others(47): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1153635 | C | CGGGAGGG others(23): Show |
intron_variant | MODIFIER | HG02738.hp2 HG03490.hp2 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0056a0001c0001t0001g0196a0001c0001t0019g0057 | 3 | 337 | 0.0089 | 30 | c.61+ others(47): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1153722 | C | CGGGAGGG others(23): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00673.hp2 HG01071.hp2 others(49): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0061a0001c0001t0001g0089others(48): Show | 52 | 337 | 0.1543 | 30 | c.61+ others(47): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1153722 | C | CGGGGAGG others(23): Show |
intron_variant | MODIFIER | HG00544.hp2 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0310a0001c0001t0010g0314 | 2 | 337 | 0.0059 | 30 | c.61+ others(47): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ABTB2_chr11_34145987_34363010 | 34306236 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0003 | a0003c0003 | a0003c0003t0010 | a0003c0003t0010g0161 | 1 | 246 | 0.0041 | 30 | c.883 others(49): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
ABTB2_chr11_34145987_34363010 | 34325950 | A | AAAAATAA others(23): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0235 | 1 | 246 | 0.0041 | 30 | c.883 others(49): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107441774 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0012 | a0001c0012t0027 | a0001c0012t0027g0023 | 1 | 186 | 0.0054 | 30 | c.113 others(51): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107508438 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0061 | 1 | 186 | 0.0054 | 30 | c.113 others(51): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACA_chr17_37079992_37411836 | 37081323 | G | GGTGTGTG others(23): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0094 | 1 | 299 | 0.0033 | 30 | c.*59 others(41): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3668 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37099529 | G | GAGGAGGG others(23): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0058 | 1 | 299 | 0.0033 | 30 | c.656 others(49): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 52/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37099530 | A | AGGAGGGT others(23): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 299 | 0.0033 | 30 | c.656 others(49): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 52/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37099590 | A | AGGAGGGC others(23): Show |
intron_variant | MODIFIER | NA18966.hp1 NA18970.hp1 NA18980.hp2 others(4): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0007t0003 | a0001c0001t0003g0112a0001c0001t0003g0121a0001c0001t0003g0122others(4): Show | 7 | 299 | 0.0234 | 30 | c.656 others(49): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 52/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37163196 | T | TAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01192.hp1 NA18943.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0070a0001c0003t0001g0075a0001c0003t0001g0077others(2): Show | 5 | 299 | 0.0167 | 30 | c.508 others(49): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37390330 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02523.hp1 HG02976.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0015a0001c0002t0001others(1): Show | a0001c0001t0001g0217a0001c0001t0001g0234a0001c0001t0015g0226others(5): Show | 8 | 299 | 0.0268 | 30 | c.38+ others(47): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37390330 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0186 | 1 | 299 | 0.0033 | 30 | c.38+ others(47): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37390330 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0207 | 1 | 299 | 0.0033 | 30 | c.38+ others(47): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37390330 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 299 | 0.0033 | 30 | c.38+ others(47): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109167621 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG02738.hp2 HG03017.hp1 NA18983.hp1 others(2): Show |
a0002a0003 | a0002c0020a0003c0001a0003c0005others(1): Show | a0002c0020t0003a0003c0001t0004a0003c0001t0008others(2): Show | a0002c0020t0003g0273a0003c0001t0004g0266a0003c0001t0008g0128others(2): Show | 5 | 308 | 0.0162 | 30 | c.787 others(45): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109209910 | C | CGTGTGTG others(23): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0009 | a0009c0096 | a0009c0096t0009 | a0009c0096t0009g0295 | 1 | 308 | 0.0033 | 30 | c.324 others(47): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109209912 | C | CGTGTGTA others(23): Show |
intron_variant | MODIFIER | HG01515.hp2 NA20752.hp1 |
a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0100a0001c0023t0001g0122 | 2 | 308 | 0.0065 | 30 | c.324 others(47): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109210133 | G | GTGTATAT others(23): Show |
intron_variant | MODIFIER | NA18992.hp2 NA19060.hp2 NA19066.hp1 |
a0003a0006a0008 | a0003c0001a0006c0078a0008c0044 | a0003c0001t0001a0006c0078t0001a0008c0044t0003 | a0003c0001t0001g0145a0006c0078t0001g0181a0008c0044t0003g0182 | 3 | 308 | 0.0097 | 30 | c.324 others(47): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109210308 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0017 | a0002c0017t0003 | a0002c0017t0003g0024 | 1 | 308 | 0.0033 | 30 | c.324 others(47): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109210325 | A | ATATGTAT others(23): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0052 | 1 | 308 | 0.0033 | 30 | c.324 others(47): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109210342 | C | CACATGTG others(23): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02056.hp1 HG02074.hp2 |
a0004a0011a0029 | a0004c0112a0011c0027a0029c0085 | a0004c0112t0001a0011c0027t0004a0029c0085t0003 | a0004c0112t0001g0119a0011c0027t0004g0150a0029c0085t0003g0238 | 3 | 308 | 0.0097 | 30 | c.324 others(47): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109210353 | C | CTGTGTAT others(23): Show |
intron_variant | MODIFIER | HG02523.hp2 NA18959.hp1 NA18998.hp2 |
a0001a0002 | a0001c0046a0002c0024 | a0001c0046t0002a0002c0024t0003 | a0001c0046t0002g0067a0001c0046t0002g0190a0002c0024t0003g0093 | 3 | 308 | 0.0097 | 30 | c.324 others(49): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109210380 | C | CACATGTG others(23): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG06807.hp2 |
a0001a0007a0015 | a0001c0064a0007c0037a0015c0119 | a0001c0064t0009a0007c0037t0004a0015c0119t0004 | a0001c0064t0009g0184a0007c0037t0004g0073a0015c0119t0004g0169 | 3 | 308 | 0.0097 | 30 | c.324 others(49): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109262950 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01261.hp2 |
a0003a0011 | a0003c0001a0011c0027 | a0003c0001t0001a0011c0027t0004 | a0003c0001t0001g0138a0011c0027t0004g0150 | 2 | 308 | 0.0065 | 30 | c.678 others(47): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 49/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAD9_chr3_128874620_128918114 | 128887667 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0191 | 1 | 372 | 0.0027 | 30 | c.244 others(47): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACADL_chr2_210182923_210230447 | 210214467 | A | AAGAAAGA others(23): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 274 | 0.0037 | 30 | c.536 others(47): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 4/10 | chr2 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75753795 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0298 | 1 | 364 | 0.0028 | 30 | c.945 others(47): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADS_chr12_120720826_120745008 | 120733535 | C | CTGCCTGC others(23): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0161 | 1 | 426 | 0.0024 | 30 | c.211 others(47): Show |
ACADS | ENSG00000122971.9 | transcript | ENST00000242592.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACADS_chr12_120720826_120745008 | 120735898 | C | CAAAATAA others(23): Show |
intron_variant | MODIFIER | NA18968.hp1 NA19087.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0073a0001c0003t0003g0080 | 2 | 426 | 0.0047 | 30 | c.211 others(47): Show |
ACADS | ENSG00000122971.9 | transcript | ENST00000242592.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAP3_chr1_1287391_1312930 | 1287777 | C | CTGGGGCA others(23): Show |
downstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 295 | 0.0034 | 30 | c.*57 others(41): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4613 | chr1 | TogoVar | ||||||
ACAT1_chr11_108116567_108152603 | 108131354 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01256.hp1 HG01258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0041a0001c0001t0001g0117others(5): Show | 9 | 386 | 0.0233 | 30 | c.73- others(43): Show |
ACAT1 | ENSG00000075239.14 | transcript | ENST00000265838.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACAT1_chr11_108116567_108152603 | 108131357 | T | TTTTTTTT others(23): Show |
intron_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 386 | 0.0026 | 30 | c.73- others(43): Show |
ACAT1 | ENSG00000075239.14 | transcript | ENST00000265838.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |