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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABTB3_chr12_107313434_107664642 | 107469942 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01175.hp1 NA18906.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0007 | a0001c0001t0002g0085 a0001c0001t0002g0098 a0002c0002t0007g0175 |
3 | 161 | 0.0186 | 8 | c.113 others(29): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107481883 | G | GTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG01243.hp1 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0011a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0013 a0001c0001t0001g0065 a0001c0001t0002g0078 others(16): Show |
19 | 35 | 0.5429 | 8 | c.113 others(29): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107499362 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01433.hp1 others(2): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0005 | a0001c0001t0002a0003c0004t0001a0003c0004t0002others(1): Show | a0001c0001t0002g0086 a0003c0004t0001g0022 a0003c0004t0001g0024 others(2): Show |
5 | 94 | 0.0532 | 8 | c.113 others(29): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107566648 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0018others(3): Show | a0001c0001t0001a0002c0002t0004a0002c0018t0020others(5): Show | a0001c0001t0001g0008 a0002c0002t0004g0044 a0002c0002t0004g0116 others(9): Show |
12 | 101 | 0.1188 | 8 | c.149 others(29): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107573464 | C | CGATGGAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG01074.hp2 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0011others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0002g0082 a0001c0001t0002g0105 a0001c0001t0002g0106 others(27): Show |
30 | 164 | 0.1829 | 8 | c.149 others(27): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107573466 | A | ATGGATGG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01175.hp1 HG01433.hp1 others(5): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0022 | a0001c0001t0001a0001c0001t0002a0001c0001t0030others(2): Show | a0001c0001t0001g0013 a0001c0001t0001g0065 a0001c0001t0002g0085 others(5): Show |
8 | 186 | 0.0430 | 8 | c.149 others(27): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107634396 | T | TATCTGTC others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 NA18522.hp2 |
a0001a0015 | a0001c0011a0015c0023 | a0001c0011t0006a0015c0023t0006 | a0001c0011t0006g0101 a0015c0023t0006g0099 |
2 | 186 | 0.0108 | 8 | c.263 others(25): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107648380 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01257.hp2 HG02055.hp1 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0003a0002c0002a0003c0006others(3): Show | a0001c0003t0002a0002c0002t0001a0003c0006t0005others(7): Show | a0001c0003t0002g0146 a0002c0002t0001g0120 a0003c0006t0005g0149 others(12): Show |
15 | 57 | 0.2632 | 8 | c.292 others(25): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107654815 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02630.hp1 HG02965.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0008a0003c0029 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0070 a0001c0001t0002g0042 a0001c0001t0003g0027 others(2): Show |
5 | 46 | 0.1087 | 8 | c.310 others(27): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107654834 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01257.hp2 HG02055.hp1 others(9): Show |
a0004a0007a0008 | a0004c0005a0007c0014a0008c0013 | a0004c0005t0008a0004c0005t0009a0004c0005t0013others(3): Show | a0004c0005t0008g0007 a0004c0005t0008g0009 a0004c0005t0008g0012 others(9): Show |
12 | 184 | 0.0652 | 8 | c.310 others(27): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107655256 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03225.hp2 HG03453.hp2 |
a0004a0007 | a0004c0005a0007c0014a0007c0032 | a0004c0005t0009a0007c0014t0008a0007c0032t0008 | a0004c0005t0009g0080 a0007c0014t0008g0126 a0007c0032t0008g0160 |
3 | 113 | 0.0265 | 8 | c.310 others(27): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49801785 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02818.hp1 HG03688.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0093 a0001c0001t0002g0054 a0001c0001t0003g0331 others(1): Show |
4 | 50 | 0.0800 | 8 | c.183 others(23): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49801812 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG02683.hp1 HG03710.hp1 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0017 | a0001c0001t0008g0214 a0001c0001t0008g0247 a0001c0001t0017g0215 |
3 | 430 | 0.0070 | 8 | c.183 others(23): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37112049 | A | ACTATCTA others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02040.hp1 HG02055.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0002t0001a0001c0002t0008others(1): Show | a0001c0001t0003g0045 a0001c0002t0001g0080 a0001c0002t0001g0087 others(7): Show |
10 | 67 | 0.1493 | 8 | c.645 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 51/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37174018 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG02523.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0015 | a0001c0001t0001g0200 a0001c0001t0001g0228 a0001c0001t0014g0226 others(2): Show |
5 | 226 | 0.0221 | 8 | c.507 others(27): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37216125 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02145.hp2 HG02683.hp2 others(1): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0006a0001c0004t0005 | a0001c0003t0001g0057 a0001c0003t0006g0135 a0001c0003t0006g0231 others(1): Show |
4 | 141 | 0.0284 | 8 | c.368 others(27): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 29/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37216189 | C | CATGTGTG others(1): Show |
intron_variant | MODIFIER | NA18954.hp1 NA18977.hp2 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 a0001c0001t0001g0213 a0001c0001t0001g0216 |
3 | 176 | 0.0170 | 8 | c.368 others(27): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 29/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37247374 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(141): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 others(141): Show |
144 | 290 | 0.4966 | 8 | c.231 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 18/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37260249 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02723.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0138 a0001c0001t0001g0193 a0001c0002t0002g0016 |
3 | 233 | 0.0129 | 8 | c.133 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 11/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37268713 | A | ATATCTAT others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG03041.hp1 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0039 a0001c0002t0008g0042 a0001c0002t0008g0043 |
3 | 263 | 0.0114 | 8 | c.111 others(27): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 10/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37268729 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02896.hp1 HG03130.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0006t0005 | a0001c0001t0003g0041 a0001c0001t0003g0098 a0001c0006t0005g0120 |
3 | 280 | 0.0107 | 8 | c.111 others(27): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 10/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37268741 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01358.hp2 HG02257.hp2 others(3): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0005a0001c0004t0030others(1): Show | a0001c0002t0002g0012 a0001c0004t0005g0044 a0001c0004t0005g0125 others(3): Show |
6 | 196 | 0.0306 | 8 | c.111 others(27): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 10/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37280730 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(79): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0096 a0001c0001t0001g0136 a0001c0001t0001g0144 others(79): Show |
82 | 164 | 0.5000 | 8 | c.610 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 5/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37291143 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02559.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0096 a0001c0001t0002g0007 a0001c0001t0010g0105 others(2): Show |
5 | 115 | 0.0435 | 8 | c.339 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37316302 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01109.hp1 HG01358.hp2 others(24): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0060 a0001c0001t0001g0084 a0001c0001t0001g0143 others(24): Show |
27 | 170 | 0.1588 | 8 | c.338 others(27): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37331094 | C | CATTTATT others(1): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02280.hp1 HG02451.hp1 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0002g0021 others(5): Show |
8 | 189 | 0.0423 | 8 | c.86- others(21): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 2/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390175 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01099.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 others(2): Show |
5 | 45 | 0.1111 | 8 | c.38+ others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390175 | T | TATATACA others(1): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02293.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0003g0112 others(14): Show |
17 | 57 | 0.2982 | 8 | c.38+ others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109133836 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01258.hp1 HG02630.hp2 others(7): Show |
a0001a0002a0006others(1): Show | a0001c0002a0001c0003a0001c0029others(6): Show | a0001c0002t0001a0001c0003t0002a0001c0029t0011others(6): Show | a0001c0002t0001g0091 a0001c0002t0001g0282 a0001c0003t0002g0078 others(7): Show |
10 | 253 | 0.0395 | 8 | c.-9- others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109145163 | T | TGAATCTC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(79): Show |
a0001a0002a0003others(18): Show | a0001c0010a0001c0012a0001c0013others(45): Show | a0001c0010t0001a0001c0010t0002a0001c0010t0009others(53): Show | a0001c0010t0001g0187 a0001c0010t0002g0259 a0001c0010t0009g0188 others(79): Show |
82 | 306 | 0.2680 | 8 | c.653 others(25): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109166649 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG01192.hp1 others(16): Show |
a0001a0002a0007others(2): Show | a0001c0002a0001c0003a0001c0029others(6): Show | a0001c0002t0001a0001c0003t0002a0001c0003t0004others(9): Show | a0001c0002t0001g0002 a0001c0002t0001g0074 a0001c0002t0001g0110 others(15): Show |
19 | 190 | 0.1000 | 8 | c.654 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109167621 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02074.hp2 HG02109.hp1 others(8): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0060a0002c0007others(6): Show | a0001c0002t0001a0001c0002t0021a0001c0060t0002others(7): Show | a0001c0002t0001g0235 a0001c0002t0021g0242 a0001c0060t0002g0270 others(8): Show |
11 | 102 | 0.1078 | 8 | c.787 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109187431 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02486.hp2 HG02622.hp2 others(8): Show |
a0001a0007a0010 | a0001c0004a0007c0030a0010c0075 | a0001c0004t0007a0001c0004t0020a0007c0030t0004others(1): Show | a0001c0004t0007g0001 a0001c0004t0007g0013 a0001c0004t0007g0024 others(6): Show |
11 | 253 | 0.0435 | 8 | c.198 others(25): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109188171 | C | CTCCTTCC others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp1 others(8): Show |
a0001a0002a0003 | a0001c0010a0001c0012a0001c0013others(3): Show | a0001c0010t0001a0001c0012t0002a0001c0013t0001others(4): Show | a0001c0010t0001g0187 a0001c0012t0002g0045 a0001c0012t0002g0248 others(8): Show |
11 | 74 | 0.1486 | 8 | c.214 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 13/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109191212 | C | CCTGTGCT others(1): Show |
intron_variant | MODIFIER | HG01433.hp1 HG03139.hp1 HG03471.hp1 others(5): Show |
a0001a0006a0013others(1): Show | a0001c0022a0006c0113a0013c0077others(2): Show | a0001c0022t0004a0006c0113t0004a0013c0077t0004others(2): Show | a0001c0022t0004g0005 a0001c0022t0004g0006 a0001c0022t0004g0007 others(5): Show |
8 | 306 | 0.0261 | 8 | c.214 others(25): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 13/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109194511 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0013a0001c0045a0001c0087others(6): Show | a0001c0013t0001a0001c0045t0002a0001c0087t0001others(7): Show | a0001c0013t0001g0159 a0001c0013t0001g0247 a0001c0013t0001g0255 others(16): Show |
19 | 243 | 0.0782 | 8 | c.248 others(25): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 16/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109194512 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG06807.hp2 NA20300.hp2 |
a0001a0007 | a0001c0064a0001c0124a0007c0037 | a0001c0064t0009a0001c0124t0012a0007c0037t0004 | a0001c0064t0009g0184 a0001c0124t0012g0197 a0007c0037t0004g0073 |
3 | 174 | 0.0172 | 8 | c.248 others(25): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 16/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109210009 | A | ATATATAC others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00544.hp1 others(58): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0003a0001c0010others(20): Show | a0001c0002t0001a0001c0003t0002a0001c0010t0002others(23): Show | a0001c0002t0001g0035 a0001c0002t0001g0074 a0001c0002t0001g0079 others(58): Show |
61 | 291 | 0.2096 | 8 | c.324 others(25): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109210094 | C | CGTGTGTA others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01074.hp2 HG01106.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0016a0001c0069a0001c0074others(5): Show | a0001c0016t0011a0001c0069t0002a0001c0074t0004others(5): Show | a0001c0016t0011g0272 a0001c0069t0002g0204 a0001c0074t0004g0229 others(8): Show |
11 | 295 | 0.0373 | 8 | c.324 others(25): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109210355 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(60): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0003a0001c0010others(22): Show | a0001c0002t0001a0001c0003t0002a0001c0010t0001others(26): Show | a0001c0002t0001g0035 a0001c0002t0001g0074 a0001c0002t0001g0079 others(60): Show |
63 | 286 | 0.2203 | 8 | c.324 others(27): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109230411 | A | AATTCTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(126): Show |
a0001a0002a0003others(24): Show | a0001c0002a0001c0003a0001c0010others(65): Show | a0001c0002t0001a0001c0003t0002a0001c0003t0004others(73): Show | a0001c0002t0001g0035 a0001c0002t0001g0126 a0001c0002t0001g0191 others(126): Show |
129 | 306 | 0.4216 | 8 | c.400 others(27): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 28/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109262950 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp1 others(14): Show |
a0001a0002a0003others(4): Show | a0001c0012a0001c0029a0002c0006others(12): Show | a0001c0012t0002a0001c0029t0002a0002c0006t0003others(12): Show | a0001c0012t0002g0045 a0001c0012t0002g0250 a0001c0029t0002g0098 others(14): Show |
17 | 41 | 0.4146 | 8 | c.678 others(25): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 49/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109262950 | T | TTTTATAT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG01175.hp2 others(10): Show |
a0001a0003a0004others(1): Show | a0001c0003a0001c0004a0001c0045others(5): Show | a0001c0003t0002a0001c0004t0002a0001c0045t0002others(5): Show | a0001c0003t0002g0095 a0001c0003t0002g0097 a0001c0003t0002g0100 others(10): Show |
13 | 37 | 0.3514 | 8 | c.678 others(25): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 49/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAD10_chr12_111681053_111762099 | 111722368 | A | ATTATTTA others(1): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02559.hp1 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0005 a0001c0001t0001g0187 a0001c0001t0001g0188 others(5): Show |
9 | 328 | 0.0274 | 8 | c.106 others(25): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 8/20 | chr12 | TogoVar | |||||||
ACAD10_chr12_111681053_111762099 | 111722369 | C | CTATTTAT others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02976.hp1 HG03098.hp1 others(1): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0009 | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(1): Show | a0001c0001t0001g0203 a0001c0001t0005g0196 a0001c0002t0002g0145 others(1): Show |
4 | 205 | 0.0195 | 8 | c.106 others(25): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAD10_chr12_111681053_111762099 | 111737841 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02257.hp2 HG02717.hp1 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 others(5): Show |
8 | 307 | 0.0261 | 8 | c.171 others(25): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132588192 | G | GGTATGTA others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01496.hp2 HG02055.hp1 others(10): Show |
a0001a0003a0010 | a0001c0001a0003c0003a0010c0014 | a0001c0001t0001a0003c0003t0001a0010c0014t0001 | a0001c0001t0001g0009 a0001c0001t0001g0036 a0001c0001t0001g0162 others(9): Show |
13 | 257 | 0.0506 | 8 | c.162 others(27): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 13/19 | chr3 | TogoVar | |||||||
ACAD9_chr3_128874620_128918114 | 128887644 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01515.hp1 HG02135.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 others(2): Show |
5 | 113 | 0.0442 | 8 | c.244 others(25): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACAD9_chr3_128874620_128918114 | 128899523 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01123.hp2 HG01255.hp2 others(7): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0003 | a0001c0002t0002g0033 a0001c0002t0002g0064 a0001c0002t0002g0109 others(6): Show |
10 | 147 | 0.0680 | 8 | c.808 others(22): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACADL_chr2_210182923_210230447 | 210184989 | G | GACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 HG02723.hp2 NA18948.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0063 a0001c0001t0001g0067 others(1): Show |
4 | 50 | 0.0800 | 8 | c.*39 others(19): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 2933 | chr2 | TogoVar |