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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2ML1_chr12_8817621_8881787 | 8841013 | CGGAAGGA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(316): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0006others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(309): Show | 319 | 368 | 0.8669 | -8 | c.108 others(25): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
A2M_chr12_9062708_9120919 | 9100427 | CTTATTTA others(1): Show |
C | intron_variant | MODIFIER | HG02155.hp2 NA18953.hp1 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0212 | 3 | 332 | 0.0090 | -8 | c.155 others(25): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 13/35 | chr12 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42703106 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01952.hp2 others(7): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0004a0001c0011t0004 | a0001c0001t0004g0289a0001c0001t0004g0290a0001c0001t0004g0291others(7): Show | 10 | 406 | 0.0246 | -8 | c.-18 others(27): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42710697 | GAAATAAA others(1): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG02735.hp1 HG04184.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003a0001c0002t0005others(1): Show | a0001c0001t0002g0102a0001c0001t0002g0103a0001c0001t0002g0104others(6): Show | 9 | 406 | 0.0222 | -8 | c.-18 others(29): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42722222 | CATTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00738.hp2 HG02630.hp2 HG02896.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0009a0002c0003 | a0001c0002t0003a0001c0009t0013a0002c0003t0001 | a0001c0002t0003g0069a0001c0009t0013g0384a0002c0003t0001g0385others(4): Show | 7 | 406 | 0.0172 | -8 | c.-16 others(19): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1353 | chr22 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125062916 | CGTGTGTG others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(65): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0239a0001c0001t0001g0281others(65): Show | 68 | 364 | 0.1868 | -8 | c.-26 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2518 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125094978 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(80): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0029a0001c0001t0001g0039a0001c0001t0001g0050others(80): Show | 83 | 364 | 0.2280 | -8 | c.570 others(25): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125110189 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(37): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(5): Show | a0001c0001t0001g0029a0001c0001t0001g0077a0001c0001t0001g0088others(37): Show | 40 | 364 | 0.1099 | -8 | c.915 others(25): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AADACL2_chr3_151728927_151766339 | 151761176 | TATATATG others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00558.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0021 | a0001c0001t0008g0002a0001c0001t0008g0009a0001c0001t0008g0032others(7): Show | 18 | 428 | 0.0421 | -8 | c.*35 others(19): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | 3583 | chr3 | TogoVar | |||||
AADACL2_chr3_151728927_151766339 | 151761204 | GATATATA others(1): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02698.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0054 | a0001c0001t0028g0033a0001c0001t0054g0055 | 3 | 428 | 0.0070 | -8 | c.*36 others(19): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | 3641 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
AADACL4_chr1_12639085_12672076 | 12645245 | TCCTCCCT others(1): Show |
T | intron_variant | MODIFIER | HG02040.hp1 HG02056.hp2 HG02083.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0261others(5): Show | 10 | 310 | 0.0323 | -8 | c.168 others(23): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AADACL4_chr1_12639085_12672076 | 12658108 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00673.hp2 others(57): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(45): Show | 60 | 310 | 0.1936 | -8 | c.386 others(25): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AAGAB_chr15_67195667_67259661 | 67222240 | GCGCACAC others(1): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(46): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0001a0001c0001t0016a0001c0001t0018others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0013others(40): Show | 49 | 380 | 0.1290 | -8 | c.535 others(25): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67242429 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00558.hp2 others(76): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0001c0001t0008a0001c0001t0019others(5): Show | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0027others(74): Show | 79 | 380 | 0.2079 | -8 | c.74- others(23): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69500664 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG02818.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0022a0001c0001t0037others(1): Show | a0001c0001t0007g0101a0001c0001t0022g0011a0001c0001t0037g0009others(1): Show | 4 | 298 | 0.0134 | -8 | c.227 others(27): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69640047 | ACACACAC others(1): Show |
A | intron_variant | MODIFIER | HG02132.hp2 HG02145.hp2 HG02723.hp1 others(8): Show |
a0001a0004a0007 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0037a0001c0003t0081a0001c0004t0017others(6): Show | a0001c0001t0037g0009a0001c0003t0081g0080a0001c0004t0017g0073others(8): Show | 11 | 298 | 0.0369 | -8 | c.163 others(25): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69647388 | TTTTATTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02083.hp2 NA18612.hp1 NA19068.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0101a0001c0003t0108a0002c0002t0003others(1): Show | a0001c0001t0101g0118a0001c0003t0108g0138a0002c0002t0003g0199others(1): Show | 4 | 298 | 0.0134 | -8 | c.-40 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3650 | chr2 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77832949 | ATATGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01496.hp2 HG02055.hp2 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006a0001c0002t0002g0109a0001c0002t0002g0207others(15): Show | 19 | 382 | 0.0497 | -8 | c.-18 others(25): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77832951 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(120): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0099a0001c0001t0001g0100others(117): Show | 123 | 382 | 0.3220 | -8 | c.-18 others(25): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAR2_chr20_36231478_36261933 | 36232816 | CCTCTCTC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02922.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0007 | a0001c0001t0001g0016a0001c0001t0001g0145a0001c0002t0007g0170others(1): Show | 4 | 298 | 0.0134 | -8 | c.-37 others(19): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3661 | chr20 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36234545 | GTCGAATA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01255.hp1 HG02004.hp1 HG02148.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0020a0001c0001t0001g0048 | 4 | 298 | 0.0134 | -8 | c.-20 others(19): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1932 | chr20 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36258860 | AAAAAAAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG00738.hp1 others(22): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0009others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0012others(21): Show | 25 | 298 | 0.0839 | -8 | c.*31 others(19): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1928 | chr20 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42965117 | TAAAAAAA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02027.hp1 HG02559.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0003 | a0001c0001t0001a0002c0004t0001a0003c0003t0001 | a0001c0001t0001g0018a0001c0001t0001g0087a0001c0001t0001g0104others(3): Show | 6 | 324 | 0.0185 | -8 | c.-68 others(17): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 664 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967269 | ATATTATA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02615.hp1 NA18522.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0072 | 3 | 324 | 0.0093 | -8 | c.-28 others(19): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2816 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967277 | TAATATAT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG03490.hp2 HG03669.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0073others(1): Show | 4 | 324 | 0.0124 | -8 | c.-28 others(19): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2824 | chr17 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122139948 | TCAAACAA others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01884.hp2 HG02738.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019 | a0001c0001t0003g0279a0001c0001t0003g0292a0001c0001t0003g0304others(1): Show | 4 | 384 | 0.0104 | -8 | c.-16 others(25): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122141658 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp2 others(128): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0014a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0022a0001c0001t0001g0023others(111): Show | 131 | 384 | 0.3412 | -8 | c.-16 others(25): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37001405 | GAGGAAGG others(1): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG02965.hp2 HG03209.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0007 | a0001c0001t0001a0001c0003t0001a0003c0007t0001 | a0001c0001t0001g0030a0001c0001t0001g0032a0001c0003t0001g0034others(2): Show | 5 | 245 | 0.0204 | -8 | c.139 others(29): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37007359 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0038a0001c0001t0001g0039others(4): Show | 7 | 245 | 0.0286 | -8 | c.139 others(29): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37022145 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02135.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0069a0001c0001t0001g0070a0001c0001t0001g0086others(5): Show | 8 | 245 | 0.0327 | -8 | c.154 others(27): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37046730 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG02055.hp1 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0086a0001c0001t0001g0087others(5): Show | 8 | 245 | 0.0327 | -8 | c.162 others(27): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37052041 | GCTGCTCC others(1): Show |
G | intron_variant | MODIFIER | HG02809.hp2 HG02895.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016a0001c0001t0003g0075a0001c0001t0003g0076others(3): Show | 6 | 245 | 0.0245 | -8 | c.162 others(27): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37058958 | AAAACAAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG01884.hp2 others(23): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0022others(23): Show | 26 | 245 | 0.1061 | -8 | c.*22 others(19): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 2088 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81140792 | GCCGTGAG others(1): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG01074.hp2 HG02895.hp2 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0011a0002c0064others(3): Show | a0001c0001t0001a0001c0011t0001a0002c0064t0001others(3): Show | a0001c0001t0001g0305a0001c0011t0001g0267a0001c0011t0001g0272others(15): Show | 18 | 368 | 0.0489 | -8 | c.56- others(23): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81140916 | GCCGTGGG others(1): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00738.hp1 others(30): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0011a0002c0064others(12): Show | a0001c0001t0001a0001c0011t0001a0002c0064t0001others(12): Show | a0001c0001t0001g0273a0001c0001t0001g0305a0001c0011t0001g0267others(28): Show | 33 | 368 | 0.0897 | -8 | c.56- others(23): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81141917 | CTCCTTCC others(1): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG02809.hp1 HG02895.hp1 |
a0001a0015 | a0001c0001a0015c0022 | a0001c0001t0001a0015c0022t0012 | a0001c0001t0001g0030a0015c0022t0012g0246a0015c0022t0012g0266 | 3 | 368 | 0.0082 | -8 | c.56- others(23): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81141953 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp2 others(100): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0040others(17): Show | a0001c0001t0001a0001c0004t0002a0001c0004t0006others(23): Show | a0001c0001t0001g0103a0001c0001t0001g0107a0001c0001t0001g0214others(96): Show | 103 | 368 | 0.2799 | -8 | c.56- others(23): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8724738 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG01099.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0038a0001c0001t0001g0108a0001c0001t0001g0125others(32): Show | 35 | 362 | 0.0967 | -8 | c.-41 others(27): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8743318 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp1 HG02451.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007others(3): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0003others(14): Show | a0001c0001t0002g0154a0002c0002t0001g0045a0002c0002t0003g0241others(19): Show | 22 | 362 | 0.0608 | -8 | c.71- others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8749386 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02258.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0321a0001c0001t0001g0324a0001c0001t0002g0352others(5): Show | 8 | 362 | 0.0221 | -8 | c.199 others(25): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8754661 | GATTTATT others(1): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp1 HG02809.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0006a0002c0002t0007others(1): Show | a0001c0001t0001g0246a0002c0002t0006g0351a0002c0002t0007g0275others(1): Show | 4 | 362 | 0.0111 | -8 | c.317 others(25): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8772252 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02109.hp1 HG02451.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0002c0002t0001others(5): Show | a0001c0001t0002g0095a0001c0001t0002g0131a0001c0001t0003g0029others(9): Show | 12 | 362 | 0.0332 | -8 | c.817 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8773105 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG03225.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0006a0002c0008others(1): Show | a0001c0001t0002a0001c0001t0037a0002c0006t0002others(2): Show | a0001c0001t0002g0030a0001c0001t0037g0289a0002c0006t0002g0348others(2): Show | 5 | 362 | 0.0138 | -8 | c.954 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8773141 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01192.hp1 HG02055.hp2 |
a0002 | a0002c0002a0002c0006a0002c0017 | a0002c0002t0032a0002c0006t0003a0002c0017t0002 | a0002c0002t0032g0157a0002c0006t0003g0023a0002c0017t0002g0044 | 3 | 362 | 0.0083 | -8 | c.954 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8789444 | AAAACAAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(98): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0011others(14): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(30): Show | a0001c0001t0002g0030a0001c0001t0002g0034a0001c0001t0002g0049others(98): Show | 101 | 362 | 0.2790 | -8 | c.*80 others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 4875 | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69143833 | GTAGATAG others(1): Show |
G | downstream_gene_variant | MODIFIER | HG02523.hp2 HG03471.hp1 HG03834.hp2 others(3): Show |
a0001a0004a0007 | a0001c0001a0004c0004a0007c0008 | a0001c0001t0002a0001c0001t0008a0004c0004t0003others(1): Show | a0001c0001t0002g0029a0001c0001t0002g0166a0001c0001t0008g0327others(3): Show | 6 | 348 | 0.0172 | -8 | c.*49 others(19): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 4173 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69184916 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp2 HG01109.hp2 others(25): Show |
a0005a0006a0009 | a0005c0005a0006c0007a0006c0016others(1): Show | a0005c0005t0004a0005c0005t0015a0006c0007t0004others(3): Show | a0005c0005t0004g0184a0005c0005t0004g0199a0005c0005t0004g0213others(25): Show | 28 | 348 | 0.0805 | -8 | c.249 others(25): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69211314 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG02004.hp2 HG03471.hp2 HG03834.hp1 others(6): Show |
a0001a0004a0014 | a0001c0001a0001c0034a0004c0006others(1): Show | a0001c0001t0006a0001c0034t0002a0004c0006t0003others(1): Show | a0001c0001t0006g0011a0001c0034t0002g0109a0004c0006t0003g0033others(6): Show | 9 | 348 | 0.0259 | -8 | c.100 others(27): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214950382 | ATCTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00735.hp1 others(36): Show |
a0001a0002a0011others(2): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0020others(13): Show | a0001c0001t0002g0025a0001c0001t0002g0030a0001c0001t0002g0035others(36): Show | 39 | 198 | 0.1970 | -8 | c.685 others(25): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214950384 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG03471.hp1 HG03516.hp2 others(2): Show |
a0001a0004 | a0001c0015a0004c0018a0004c0059 | a0001c0015t0007a0001c0015t0009a0004c0018t0021others(1): Show | a0001c0015t0007g0009a0001c0015t0007g0013a0001c0015t0009g0006others(2): Show | 5 | 198 | 0.0253 | -8 | c.685 others(25): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar |