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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABTB3_chr12_107313434_107664642 | 107445860 | A | ATCTCCC | intron_variant | MODIFIER | NA18946.hp1 NA18946.hp2 |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0007a0005c0007t0007 | a0002c0002t0007g0174a0005c0007t0007g0169 | 2 | 186 | 0.0108 | 6 | c.113 others(27): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107464949 | T | TACACAC | intron_variant | MODIFIER | HG03017.hp2 NA19030.hp1 |
a0004a0005 | a0004c0005a0005c0007 | a0004c0005t0009a0005c0007t0003 | a0004c0005t0009g0107a0005c0007t0003g0072 | 2 | 186 | 0.0108 | 6 | c.113 others(27): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107469922 | C | CTTTCTT | intron_variant | MODIFIER | HG00423.hp2 HG01361.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0002c0002t0004 | a0001c0003t0002g0138a0002c0002t0004g0059 | 2 | 186 | 0.0108 | 6 | c.113 others(27): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107476812 | A | AGTGTGT | intron_variant | MODIFIER | HG02559.hp1 HG03041.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0011t0031 | a0001c0001t0002g0152a0001c0011t0031g0075 | 2 | 186 | 0.0108 | 6 | c.113 others(27): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107481883 | G | GTCTCTC | intron_variant | MODIFIER | HG00423.hp2 HG01109.hp2 HG01243.hp2 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0011a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0004a0001c0001t0001g0055a0001c0001t0002g0042others(18): Show | 21 | 186 | 0.1129 | 6 | c.113 others(27): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107521263 | T | TTGTGTG | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG03492.hp1 others(2): Show |
a0001a0012a0017 | a0001c0001a0012c0025a0017c0028 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0026a0001c0001t0002g0083a0001c0001t0006g0089others(2): Show | 5 | 186 | 0.0269 | 6 | c.128 others(23): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107564088 | C | CTGTGTG | intron_variant | MODIFIER | HG02970.hp2 HG03225.hp1 |
a0003 | a0003c0004a0003c0008 | a0003c0004t0002a0003c0008t0001 | a0003c0004t0002g0076a0003c0008t0001g0021 | 2 | 186 | 0.0108 | 6 | 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 | 107564090 | C | CTGTGTG | intron_variant | MODIFIER | HG01175.hp2 HG02056.hp1 HG02717.hp1 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0015others(2): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(4): Show | a0001c0001t0001g0016a0001c0001t0003g0015a0002c0002t0001g0109others(5): Show | 8 | 186 | 0.0430 | 6 | 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 | 107566648 | T | TACACAC | intron_variant | MODIFIER | HG01978.hp2 HG02015.hp2 HG02055.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0011others(7): Show | a0001c0001t0024a0001c0003t0005a0001c0011t0031others(8): Show | a0001c0001t0024g0056a0001c0003t0005g0143a0001c0011t0031g0075others(8): Show | 11 | 186 | 0.0591 | 6 | 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 | 107643752 | C | CTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG02698.hp2 HG02738.hp2 others(2): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0003c0004t0011others(2): Show | a0001c0001t0001g0001a0001c0001t0004g0031a0003c0004t0011g0155others(2): Show | 5 | 186 | 0.0269 | 6 | 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 | 107644972 | C | CTTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG01361.hp2 HG02055.hp1 others(7): Show |
a0002a0004a0006others(3): Show | a0002c0002a0004c0005a0006c0014others(3): Show | a0002c0002t0012a0004c0005t0008a0004c0005t0009others(5): Show | a0002c0002t0012g0180a0004c0005t0008g0012a0004c0005t0009g0080others(7): Show | 10 | 186 | 0.0538 | 6 | 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 | 107648380 | C | CCACACA | intron_variant | MODIFIER | HG00140.hp1 HG01361.hp1 HG01433.hp2 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(11): Show | a0001c0001t0001g0008a0001c0001t0001g0034a0001c0001t0001g0037others(16): Show | 19 | 186 | 0.1022 | 6 | c.292 others(23): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107654815 | T | TACACAC | intron_variant | MODIFIER | HG00423.hp1 HG01361.hp1 HG01496.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0014a0001c0003t0002others(5): Show | a0001c0001t0002g0157a0001c0001t0014g0154a0001c0003t0002g0138others(5): Show | 8 | 186 | 0.0430 | 6 | c.310 others(25): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107655256 | A | AATATAT | intron_variant | MODIFIER | HG01169.hp2 HG01257.hp2 HG01361.hp2 others(12): Show |
a0004a0006a0008others(1): Show | a0004c0005a0006c0014a0008c0013others(1): Show | a0004c0005t0008a0004c0005t0009a0004c0005t0013others(5): Show | a0004c0005t0008g0007a0004c0005t0008g0009a0004c0005t0008g0012others(12): Show | 15 | 186 | 0.0807 | 6 | c.310 others(25): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAA2_chr18_49777164_49818533 | 49801785 | C | CATATAT | intron_variant | MODIFIER | HG00738.hp2 HG01358.hp1 HG01496.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0115a0001c0001t0002g0055a0001c0001t0002g0072others(8): Show | 14 | 434 | 0.0323 | 6 | c.183 others(21): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49803239 | A | AAATAAT | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00621.hp2 others(124): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0029a0001c0001t0001g0120a0001c0001t0001g0122others(93): Show | 127 | 434 | 0.2926 | 6 | c.17- others(19): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37119589 | A | AACACAC | intron_variant | MODIFIER | HG03130.hp1 HG04204.hp2 HG04228.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0007 | a0001c0002t0001a0001c0002t0002a0001c0002t0022others(2): Show | a0001c0002t0001g0155a0001c0002t0002g0005a0001c0002t0022g0036others(2): Show | 5 | 299 | 0.0167 | 6 | c.627 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 50/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37128023 | T | TAAAAAA | intron_variant | MODIFIER | HG01358.hp1 HG02080.hp2 HG03831.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(2): Show | a0001c0001t0001g0194a0001c0001t0006g0189a0001c0001t0006g0207others(7): Show | 10 | 299 | 0.0334 | 6 | c.594 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 47/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37202668 | C | CATATAT | intron_variant | MODIFIER | HG00639.hp1 HG02976.hp2 HG04199.hp2 others(3): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0002t0002a0001c0005t0001 | a0001c0002t0001g0097a0001c0002t0001g0128a0001c0002t0001g0171others(3): Show | 6 | 299 | 0.0201 | 6 | c.405 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 33/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37216125 | A | AACACAC | intron_variant | MODIFIER | HG00558.hp1 HG01109.hp1 HG01884.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(7): Show | a0001c0001t0001g0180a0001c0003t0001g0054a0001c0003t0001g0066others(18): Show | 21 | 299 | 0.0702 | 6 | c.368 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 29/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37216189 | C | CATGTGT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00609.hp2 others(51): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0059a0001c0001t0001g0076a0001c0001t0001g0083others(51): Show | 54 | 299 | 0.1806 | 6 | c.368 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 29/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37268741 | C | CTATATA | intron_variant | MODIFIER | HG01175.hp2 HG01981.hp2 HG02723.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0019 | a0001c0002t0001g0050a0001c0002t0001g0100a0001c0003t0019g0028 | 3 | 299 | 0.0100 | 6 | c.111 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 10/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37268741 | C | CTATCTA | intron_variant | MODIFIER | HG03225.hp2 NA18970.hp2 NA19005.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0139a0001c0002t0001g0149a0001c0002t0001g0150others(1): Show | 4 | 299 | 0.0134 | 6 | c.111 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 10/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37268743 | A | ATCTATC | intron_variant | MODIFIER | HG00558.hp1 NA18972.hp2 NA18990.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002a0001c0003t0013 | a0001c0003t0001g0054a0001c0003t0001g0056a0001c0003t0002g0015others(1): Show | 4 | 299 | 0.0134 | 6 | c.111 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 10/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37269763 | G | GAAAAAA | intron_variant | MODIFIER | HG00733.hp1 HG01358.hp2 HG01884.hp1 others(28): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0180a0001c0001t0001g0196a0001c0001t0002g0007others(28): Show | 31 | 299 | 0.1037 | 6 | c.111 others(23): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 10/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37280730 | A | AACACAC | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG00738.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0076a0001c0001t0001g0099a0001c0001t0001g0193others(51): Show | 54 | 299 | 0.1806 | 6 | c.610 others(23): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 5/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37280761 | A | ACACACC | intron_variant | MODIFIER | HG02723.hp1 HG02818.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0028 | a0001c0001t0001g0138a0001c0001t0001g0259a0001c0001t0002g0034others(1): Show | 4 | 299 | 0.0134 | 6 | c.610 others(23): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 5/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37291178 | A | ATTTGTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(296): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0053others(296): Show | 299 | 299 | 1.0000 | 6 | c.339 others(23): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37297546 | T | TATATAC | intron_variant | MODIFIER | HG00733.hp1 HG01358.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0005a0001c0004t0031others(1): Show | a0001c0001t0001g0187a0001c0004t0005g0044a0001c0004t0005g0125others(3): Show | 6 | 299 | 0.0201 | 6 | c.339 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37316302 | T | TACACAC | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01099.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0096a0001c0001t0002g0022a0001c0001t0003g0091others(8): Show | 11 | 299 | 0.0368 | 6 | c.338 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37316333 | A | ACACACC | intron_variant | MODIFIER | HG02257.hp1 HG02723.hp1 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0028 | a0001c0001t0001g0138a0001c0001t0001g0259a0001c0001t0001g0263others(3): Show | 6 | 299 | 0.0201 | 6 | c.338 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37390175 | T | TACACAC | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01123.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0013 | a0001c0001t0004g0159a0001c0001t0004g0160a0001c0001t0004g0161others(6): Show | 9 | 299 | 0.0301 | 6 | c.38+ others(23): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37390175 | T | TATACAC | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00733.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0002t0001a0001c0004t0005others(2): Show | a0001c0001t0003g0182a0001c0001t0003g0183a0001c0002t0001g0154others(7): Show | 10 | 299 | 0.0334 | 6 | c.38+ others(23): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37400740 | C | CTGTGTG | intron_variant | MODIFIER | HG00733.hp1 HG01168.hp1 HG01169.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0003a0001c0003t0001a0001c0004t0031 | a0001c0001t0003g0116a0001c0003t0001g0130a0001c0003t0001g0131others(2): Show | 5 | 299 | 0.0167 | 6 | c.38+ others(21): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109133836 | C | CATATAT | intron_variant | MODIFIER | HG02080.hp1 HG02280.hp2 HG02723.hp1 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0049others(3): Show | a0001c0002t0001a0001c0003t0002a0001c0049t0001others(3): Show | a0001c0002t0001g0035a0001c0003t0002g0094a0001c0003t0002g0244others(5): Show | 8 | 308 | 0.0260 | 6 | c.-9- others(21): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109140890 | C | CTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG02056.hp2 others(8): Show |
a0003a0005a0012others(1): Show | a0003c0001a0003c0005a0003c0081others(3): Show | a0003c0001t0001a0003c0001t0008a0003c0005t0002others(4): Show | a0003c0001t0001g0143a0003c0001t0001g0149a0003c0001t0001g0154others(8): Show | 11 | 308 | 0.0357 | 6 | c.653 others(21): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109152640 | C | CTTTCTT | intron_variant | MODIFIER | HG00423.hp2 HG01106.hp2 HG01255.hp1 others(10): Show |
a0001a0002a0007others(1): Show | a0001c0002a0001c0003a0001c0055others(8): Show | a0001c0002t0001a0001c0003t0002a0001c0055t0001others(8): Show | a0001c0002t0001g0075a0001c0002t0001g0235a0001c0003t0002g0244others(10): Show | 13 | 308 | 0.0422 | 6 | c.653 others(25): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109157272 | G | GTTATTA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(107): Show |
a0001a0002a0004others(14): Show | a0001c0002a0001c0003a0001c0010others(45): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0021others(54): Show | a0001c0002t0001g0035a0001c0002t0001g0075a0001c0002t0001g0081others(107): Show | 110 | 308 | 0.3571 | 6 | 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 | 109166649 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(20): Show |
a0001a0002a0007others(4): Show | a0001c0002a0001c0003a0001c0011others(12): Show | a0001c0002t0001a0001c0003t0002a0001c0011t0001others(13): Show | a0001c0002t0001g0035a0001c0002t0001g0126a0001c0003t0002g0077others(20): Show | 23 | 308 | 0.0747 | 6 | c.654 others(21): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109167621 | G | GTATATA | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01109.hp2 others(18): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0022a0001c0023others(11): Show | a0001c0002t0001a0001c0022t0004a0001c0023t0004others(13): Show | a0001c0002t0001g0283a0001c0022t0004g0004a0001c0022t0004g0005others(18): Show | 21 | 308 | 0.0682 | 6 | c.787 others(21): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109194511 | C | CGTGTGT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00621.hp2 others(42): Show |
a0001a0002a0003others(5): Show | a0001c0011a0001c0012a0001c0029others(10): Show | a0001c0011t0001a0001c0012t0002a0001c0029t0011others(15): Show | a0001c0011t0001g0013a0001c0012t0002g0251a0001c0012t0002g0259others(42): Show | 45 | 308 | 0.1461 | 6 | c.248 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 16/52 | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109194512 | A | ATGTGTG | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 NA18970.hp1 |
a0004a0010 | a0004c0008a0004c0041a0010c0042 | a0004c0008t0008a0004c0041t0002a0010c0042t0003 | a0004c0008t0008g0216a0004c0041t0002g0222a0010c0042t0003g0220 | 3 | 308 | 0.0097 | 6 | c.248 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 16/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109209910 | C | CATACGT | intron_variant | MODIFIER | HG01069.hp1 HG01074.hp2 HG01106.hp2 others(1): Show |
a0009 | a0009c0025 | a0009c0025t0001 | a0009c0025t0001g0105a0009c0025t0001g0269a0009c0025t0001g0270others(1): Show | 4 | 308 | 0.0130 | 6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109209945 | A | ATACATG | intron_variant | MODIFIER | HG00280.hp2 HG02723.hp2 HG03669.hp1 others(3): Show |
a0001a0002a0009others(1): Show | a0001c0010a0001c0011a0001c0013others(3): Show | a0001c0010t0001a0001c0011t0001a0001c0013t0001others(3): Show | a0001c0010t0001g0188a0001c0011t0001g0013a0001c0013t0001g0256others(3): Show | 6 | 308 | 0.0195 | 6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109209952 | T | TACACAC | intron_variant | MODIFIER | HG00323.hp1 HG02523.hp1 NA19009.hp2 |
a0006 | a0006c0026 | a0006c0026t0002a0006c0026t0016 | a0006c0026t0002g0155a0006c0026t0002g0156a0006c0026t0016g0066 | 3 | 308 | 0.0097 | 6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109210021 | G | GTACATA | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02615.hp1 others(12): Show |
a0001a0002a0006others(4): Show | a0001c0039a0001c0069a0001c0074others(10): Show | a0001c0039t0004a0001c0069t0002a0001c0074t0004others(11): Show | a0001c0039t0004g0116a0001c0069t0002g0204a0001c0074t0004g0229others(12): Show | 15 | 308 | 0.0487 | 6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109210056 | C | CATACAT | intron_variant | MODIFIER | HG00280.hp2 HG02723.hp2 HG03669.hp1 others(2): Show |
a0001a0002a0019 | a0001c0010a0001c0011a0001c0013others(2): Show | a0001c0010t0001a0001c0011t0001a0001c0013t0001others(2): Show | a0001c0010t0001g0188a0001c0011t0001g0013a0001c0013t0001g0256others(2): Show | 5 | 308 | 0.0162 | 6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109210056 | C | CATACGT | intron_variant | MODIFIER | HG02145.hp2 HG03098.hp2 HG03225.hp2 |
a0007a0033a0035 | a0007c0037a0033c0063a0035c0076 | a0007c0037t0004a0033c0063t0010a0035c0076t0010 | a0007c0037t0004g0200a0033c0063t0010g0117a0035c0076t0010g0267 | 3 | 308 | 0.0097 | 6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109210061 | G | GTATATA | intron_variant | MODIFIER | HG00323.hp1 HG02523.hp1 NA19009.hp2 |
a0006 | a0006c0026 | a0006c0026t0002a0006c0026t0016 | a0006c0026t0002g0155a0006c0026t0002g0156a0006c0026t0016g0066 | 3 | 308 | 0.0097 | 6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109210090 | C | CGTATAT | intron_variant | MODIFIER | HG00280.hp2 HG02723.hp2 HG03669.hp1 others(2): Show |
a0001a0002a0019 | a0001c0010a0001c0011a0001c0013others(2): Show | a0001c0010t0001a0001c0011t0001a0001c0013t0001others(2): Show | a0001c0010t0001g0188a0001c0011t0001g0013a0001c0013t0001g0256others(2): Show | 5 | 308 | 0.0162 | 6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | chr12 | TogoVar |