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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AARS1_chr16_70247298_70294506 | 70269322 | G | GAAA | intron_variant | MODIFIER | HG00438.hp2 HG01358.hp2 HG01978.hp1 others(12): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0002c0004t0001 | a0001c0002t0001g0163a0001c0002t0001g0183a0001c0002t0001g0207others(12): Show | 15 | 362 | 0.0414 | 3 | c.962 others(18): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 7/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70272506 | C | CAAA | intron_variant | MODIFIER | HG01358.hp2 HG01952.hp1 HG01978.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0155a0001c0002t0001g0198a0001c0002t0001g0235others(9): Show | 12 | 362 | 0.0332 | 3 | c.480 others(18): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70273863 | C | CAAA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01952.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0008a0001c0001t0001g0024a0001c0001t0001g0030others(20): Show | 23 | 362 | 0.0635 | 3 | c.480 others(20): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70275936 | C | CAAA | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0022others(23): Show | 26 | 362 | 0.0718 | 3 | c.479 others(18): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44294772 | C | CAAA | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01361.hp2 HG02027.hp2 others(17): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0005c0007others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0015others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0022a0001c0002t0002g0002others(6): Show | 20 | 396 | 0.0505 | 3 | c.*57 others(14): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 3958 | chr6 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42956660 | C | CTTT | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG02922.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0074a0001c0001t0001g0083a0001c0001t0001g0084others(5): Show | 8 | 324 | 0.0247 | 3 | c.390 others(18): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 4/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42965425 | C | CAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00741.hp2 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0003c0003others(1): Show | a0001c0001t0001a0002c0004t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(24): Show | 39 | 324 | 0.1204 | 3 | c.-98 others(12): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 972 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42965447 | A | AAAG | upstream_gene_variant | MODIFIER | HG01981.hp1 HG03704.hp2 HG03942.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0017others(3): Show | 8 | 324 | 0.0247 | 3 | c.-10 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 994 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42965994 | C | CAAA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00597.hp1 others(54): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(24): Show | 57 | 324 | 0.1759 | 3 | c.-15 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 1541 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967250 | A | AGAT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG03225.hp2 HG03490.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0073others(2): Show | 5 | 324 | 0.0154 | 3 | c.-28 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2797 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967320 | A | AGAT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(66): Show |
a0001a0004a0008 | a0001c0001a0004c0005a0008c0007 | a0001c0001t0001a0004c0005t0001a0008c0007t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0010others(32): Show | 69 | 324 | 0.2130 | 3 | c.-28 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2867 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967355 | A | AGAT | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01952.hp2 HG02015.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0011others(5): Show | 10 | 324 | 0.0309 | 3 | c.-29 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2902 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967391 | A | AAAT | upstream_gene_variant | MODIFIER | HG01496.hp2 HG01993.hp1 NA18969.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0032a0001c0001t0001g0036 | 4 | 324 | 0.0124 | 3 | c.-29 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2938 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967407 | A | ATTT | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01952.hp2 HG02015.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0011others(5): Show | 10 | 324 | 0.0309 | 3 | c.-29 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2954 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967409 | A | ATTT | upstream_gene_variant | MODIFIER | HG01496.hp2 HG01993.hp1 NA18969.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0032a0001c0001t0001g0036 | 4 | 324 | 0.0124 | 3 | c.-29 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2956 | chr17 | TogoVar | ||||||
AASDHPPT_chr11_106072662_106103695 | 106082555 | G | GTCT | intron_variant | MODIFIER | HG02451.hp1 HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 3 | 404 | 0.0074 | 3 | c.409 others(20): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AASDH_chr4_56333290_56392491 | 56334818 | C | CGTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(290): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0005a0001c0010others(18): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(22): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(259): Show | 293 | 382 | 0.7670 | 3 | c.*35 others(14): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3471 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56337453 | T | TAAC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(113): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0005a0001c0010others(9): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(11): Show | a0001c0001t0001g0166a0001c0005t0001g0011a0001c0005t0001g0028others(102): Show | 116 | 382 | 0.3037 | 3 | c.*94 others(12): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 836 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56337517 | A | ACTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(103): Show |
a0001a0004a0005others(3): Show | a0001c0005a0004c0004a0004c0025others(4): Show | a0001c0005t0001a0001c0005t0005a0004c0004t0001others(6): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(92): Show | 106 | 382 | 0.2775 | 3 | c.*88 others(12): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 772 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56337888 | A | AGAT | downstream_gene_variant | MODIFIER | NA18940.hp1 NA18957.hp2 NA18968.hp1 others(5): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0005a0004c0004t0001g0169a0004c0004t0001g0170others(2): Show | 8 | 382 | 0.0209 | 3 | c.*51 others(12): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 401 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56339748 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(143): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0001c0010others(11): Show | a0001c0001t0001a0001c0005t0001a0001c0010t0001others(12): Show | a0001c0001t0001g0166a0001c0005t0001g0242a0001c0005t0001g0299others(128): Show | 146 | 382 | 0.3822 | 3 | c.290 others(20): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56341389 | C | CTTT | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02148.hp2 others(5): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0001a0005c0007t0003 | a0002c0002t0001g0180a0005c0007t0003g0033a0005c0007t0003g0034others(5): Show | 8 | 382 | 0.0209 | 3 | c.290 others(22): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56376019 | C | CTTT | intron_variant | MODIFIER | HG00597.hp2 HG01069.hp1 HG01071.hp1 others(26): Show |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0001a0002c0002t0001 | a0001c0005t0001g0285a0001c0005t0001g0299a0001c0005t0001g0300others(23): Show | 29 | 382 | 0.0759 | 3 | c.668 others(20): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56377078 | A | AAAT | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(92): Show |
a0002a0008a0012others(2): Show | a0002c0002a0002c0006a0002c0024others(4): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(5): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(81): Show | 95 | 382 | 0.2487 | 3 | c.668 others(20): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56386799 | C | CAAA | intron_variant | MODIFIER | HG00323.hp2 HG01884.hp1 HG02630.hp1 others(5): Show |
a0003a0005 | a0003c0003a0005c0007 | a0003c0003t0002a0005c0007t0003 | a0003c0003t0002g0238a0003c0003t0002g0239a0005c0007t0003g0033others(5): Show | 8 | 382 | 0.0209 | 3 | c.-43 others(18): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56392004 | T | TAAA | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02809.hp2 HG03041.hp2 others(3): Show |
a0001a0007a0011 | a0001c0010a0007c0008a0011c0014 | a0001c0010t0001a0007c0008t0001a0011c0014t0001 | a0001c0010t0001g0281a0007c0008t0001g0059a0007c0008t0001g0060others(3): Show | 6 | 382 | 0.0157 | 3 | c.-46 others(14): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4514 | chr4 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122109253 | C | CAAA | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp1 HG01243.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0024a0001c0001t0001g0073a0001c0001t0001g0117others(11): Show | 15 | 384 | 0.0391 | 3 | c.127 others(22): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 11/23 | chr7 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122135271 | T | TAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(83): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0014a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0022a0001c0001t0001g0023others(63): Show | 86 | 384 | 0.2240 | 3 | c.-15 others(20): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122140485 | C | CAAA | intron_variant | MODIFIER | HG00639.hp1 HG01123.hp1 HG02080.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0014a0003c0004t0001 | a0001c0001t0001g0030a0001c0001t0001g0035a0001c0001t0001g0138others(7): Show | 12 | 384 | 0.0313 | 3 | c.-16 others(20): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37001455 | G | GGAA | intron_variant | MODIFIER | HG00558.hp2 HG01257.hp1 HG02027.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0081a0001c0001t0002g0002a0001c0001t0002g0003others(13): Show | 16 | 245 | 0.0653 | 3 | c.139 others(24): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37003471 | C | CTTT | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02559.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0040a0001c0001t0001g0041others(7): Show | 10 | 245 | 0.0408 | 3 | c.139 others(24): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37009823 | C | CAAA | intron_variant | MODIFIER | HG01243.hp2 HG02135.hp2 HG02451.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0070a0001c0001t0001g0084others(10): Show | 13 | 245 | 0.0531 | 3 | c.139 others(22): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37014267 | G | GTAA | intron_variant | MODIFIER | HG00558.hp1 HG01358.hp1 HG01358.hp2 others(25): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0004 | a0001c0001t0001g0014a0001c0001t0001g0017a0001c0001t0001g0038others(25): Show | 28 | 245 | 0.1143 | 3 | c.139 others(22): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37035541 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG01074.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0158a0001c0001t0001g0159a0001c0001t0001g0160others(13): Show | 16 | 245 | 0.0653 | 3 | c.161 others(22): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37057403 | C | CTTT | downstream_gene_variant | MODIFIER | HG02293.hp2 HG02723.hp1 HG03834.hp1 others(2): Show |
a0001a0002a0005 | a0001c0003a0002c0004a0005c0008 | a0001c0003t0001a0002c0004t0001a0005c0008t0001 | a0001c0003t0001g0091a0002c0004t0001g0098a0002c0004t0001g0099others(2): Show | 5 | 245 | 0.0204 | 3 | c.*73 others(12): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 533 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81145234 | C | CAAA | intron_variant | MODIFIER | HG00673.hp2 HG01071.hp1 HG01106.hp2 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(10): Show | a0001c0001t0001g0014a0001c0001t0001g0208a0001c0001t0001g0210others(36): Show | 40 | 368 | 0.1087 | 3 | c.56- others(20): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81154319 | C | CTTT | intron_variant | MODIFIER | HG01358.hp2 HG02647.hp2 HG02735.hp1 others(4): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0003c0009others(2): Show | a0001c0001t0005a0003c0003t0001a0003c0009t0005others(2): Show | a0001c0001t0005g0025a0001c0001t0005g0026a0001c0001t0005g0028others(4): Show | 7 | 368 | 0.0190 | 3 | c.55+ others(20): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81166503 | C | CGGG | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00609.hp2 others(31): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0011others(13): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0016others(15): Show | a0001c0001t0001g0034a0001c0001t0001g0167a0001c0001t0001g0217others(31): Show | 34 | 368 | 0.0924 | 3 | c.-51 others(12): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 283 | chr17 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8681458 | C | CTTT | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG02015.hp2 others(6): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0003a0002c0002t0007others(4): Show | a0001c0001t0001g0163a0001c0001t0001g0173a0001c0003t0003g0165others(6): Show | 9 | 362 | 0.0249 | 3 | c.-42 others(20): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8706404 | C | CAAA | intron_variant | MODIFIER | HG01099.hp1 HG01106.hp2 HG02738.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(3): Show | a0001c0001t0002g0057a0001c0001t0002g0067a0001c0001t0002g0149others(5): Show | 8 | 362 | 0.0221 | 3 | c.-41 others(22): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8707353 | A | ATTT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(156): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0038a0001c0001t0001g0081a0001c0001t0001g0090others(156): Show | 159 | 362 | 0.4392 | 3 | c.-41 others(22): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8709826 | C | CTTT | intron_variant | MODIFIER | HG00438.hp1 HG00733.hp2 HG00738.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0021others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0058a0001c0001t0001g0076a0001c0001t0001g0110others(23): Show | 26 | 362 | 0.0718 | 3 | c.-41 others(22): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8729828 | T | TAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(180): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0011others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0024a0001c0001t0001g0058a0001c0001t0001g0121others(180): Show | 183 | 362 | 0.5055 | 3 | c.-41 others(20): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8737993 | A | AAGG | intron_variant | MODIFIER | HG00609.hp1 HG03710.hp2 HG04115.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0318a0001c0003t0001g0089a0001c0003t0001g0356 | 3 | 362 | 0.0083 | 3 | c.70+ others(18): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8743007 | T | TAAA | intron_variant | MODIFIER | HG01168.hp1 HG02074.hp2 HG02109.hp2 others(18): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0024a0001c0001t0001g0125a0001c0001t0001g0321others(18): Show | 21 | 362 | 0.0580 | 3 | c.71- others(18): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8743704 | T | TATA | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp1 HG03225.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0015 | a0001c0001t0001a0001c0001t0047a0002c0015t0005 | a0001c0001t0001g0024a0001c0001t0001g0246a0001c0001t0047g0314others(1): Show | 4 | 362 | 0.0111 | 3 | c.71- others(18): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8749386 | C | CTTT | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00544.hp2 others(92): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0076a0001c0001t0001g0090a0001c0001t0001g0099others(92): Show | 95 | 362 | 0.2624 | 3 | c.199 others(20): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8750202 | A | AAAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(137): Show |
a0001a0002a0005 | a0001c0001a0001c0013a0002c0002others(10): Show | a0001c0001t0003a0001c0013t0002a0002c0002t0001others(52): Show | a0001c0001t0003g0029a0001c0013t0002g0203a0001c0013t0002g0204others(137): Show | 140 | 362 | 0.3867 | 3 | c.199 others(18): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8750943 | C | CTTT | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01192.hp2 others(9): Show |
a0002a0003 | a0002c0002a0002c0009a0003c0010 | a0002c0002t0001a0002c0002t0004a0002c0002t0006others(4): Show | a0002c0002t0001g0010a0002c0002t0001g0297a0002c0002t0001g0334others(9): Show | 12 | 362 | 0.0332 | 3 | c.316 others(18): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8755756 | C | CAAA | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG00735.hp2 others(38): Show |
a0001a0002a0005 | a0001c0003a0001c0013a0002c0004others(3): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0004others(13): Show | a0001c0003t0001g0035a0001c0003t0003g0064a0001c0003t0003g0088others(38): Show | 41 | 362 | 0.1133 | 3 | c.317 others(20): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |