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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AOX1_chr2_200581014_200676495 | 200663596 | T | TCTCTCCC | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG01261.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0273a0001c0001t0002g0272a0001c0001t0002g0278others(3): Show | 6 | 370 | 0.0162 | 7 | c.354 others(24): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 31/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AP1G1_chr16_71724000_71813834 | 71794835 | C | CTTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG01168.hp2 HG02071.hp2 others(30): Show |
a0002a0004 | a0002c0002a0004c0007 | a0002c0002t0001a0002c0002t0005a0002c0002t0006others(4): Show | a0002c0002t0001g0095a0002c0002t0001g0096a0002c0002t0001g0111others(30): Show | 33 | 320 | 0.1031 | 7 | c.-3- others(22): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1/22 | chr16 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16215194 | C | CAGGGGCG | intron_variant | MODIFIER | HG00099.hp2 HG01099.hp1 HG02165.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0149a0001c0002t0002a0001c0002t0007others(3): Show | a0001c0001t0149g0231a0001c0002t0002g0100a0001c0002t0002g0157others(5): Show | 8 | 308 | 0.0260 | 7 | c.546 others(24): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | chr19 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16244882 | T | TTTTTTTG | 3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01978.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0091a0001c0001t0104others(4): Show | a0001c0001t0033g0264a0001c0001t0033g0276a0001c0001t0091g0022others(5): Show | 8 | 308 | 0.0260 | 7 | c.*10 others(20): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 10450 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AP1M2_chr19_10567671_10592312 | 10585261 | A | AAAGAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00639.hp1 others(27): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003 | a0001c0002t0001g0163a0001c0002t0001g0164a0001c0002t0001g0165others(23): Show | 30 | 394 | 0.0761 | 7 | c.43- others(22): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
AP1S1_chr7_101149476_101166276 | 101151166 | A | AAATAAAT | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG01070.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0003a0001c0001t0003g0073a0001c0001t0003g0081others(4): Show | 37 | 432 | 0.0857 | 7 | c.-33 others(18): Show |
AP1S1 | ENSG00000106367.15 | transcript | ENST00000337619.11 | protein_coding | 3309 | chr7 | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15834439 | A | ATATATAT | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 318 | 0.0031 | 7 | c.427 others(24): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15834479 | T | TATATATA | intron_variant | MODIFIER | HG01192.hp1 HG02074.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148a0001c0001t0001g0179a0001c0001t0001g0201 | 3 | 318 | 0.0094 | 7 | c.427 others(24): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223769613 | A | AAGCGTTT | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(255): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0032others(254): Show | 258 | 340 | 0.7588 | 7 | c.292 others(24): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223807867 | C | CTTTTTTT | intron_variant | MODIFIER | HG01261.hp2 HG01978.hp2 HG01981.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0043a0001c0001t0003g0011a0001c0001t0003g0020others(17): Show | 20 | 340 | 0.0588 | 7 | c.3+2 others(22): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35604566 | T | TGGCTAAC | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp1 others(137): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0002t0010others(5): Show | a0001c0002t0001g0003a0001c0002t0001g0060a0001c0002t0001g0186others(136): Show | 140 | 372 | 0.3763 | 7 | c.144 others(24): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35610142 | A | ATTTATTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(339): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0128others(336): Show | 342 | 372 | 0.9194 | 7 | c.525 others(24): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35720573 | A | ATATATAT | intron_variant | MODIFIER | HG01192.hp1 HG02056.hp1 HG02071.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0002 | a0001c0001t0003g0006a0001c0001t0003g0018a0001c0001t0003g0029others(6): Show | 9 | 372 | 0.0242 | 7 | c.278 others(26): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35720574 | T | TATATATA | intron_variant | MODIFIER | HG00558.hp1 HG01891.hp1 HG02602.hp2 others(7): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0005t0002 | a0001c0001t0002g0118a0001c0001t0002g0174a0001c0001t0002g0183others(7): Show | 10 | 372 | 0.0269 | 7 | c.278 others(26): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | chr17 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46855092 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01256.hp2 HG01358.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011a0001c0001t0001g0054a0001c0001t0001g0056others(3): Show | 9 | 424 | 0.0212 | 7 | c.-43 others(18): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4247 | chr19 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78134149 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(34): Show |
a0001a0003a0004others(1): Show | a0001c0002a0003c0008a0004c0017others(1): Show | a0001c0002t0001a0001c0002t0002a0003c0008t0002others(2): Show | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(34): Show | 37 | 226 | 0.1637 | 7 | c.165 others(26): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78169733 | G | GTTATTTA | intron_variant | MODIFIER | HG01168.hp1 HG01361.hp2 HG02055.hp2 others(16): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0002g0019a0001c0001t0002g0023a0001c0002t0001g0180others(16): Show | 19 | 226 | 0.0841 | 7 | c.116 others(26): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | ||||||
AP3B2_chr15_82654281_82714875 | 82683047 | G | GTTTTTTT | intron_variant | MODIFIER | HG01106.hp1 HG01257.hp1 HG01258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0345a0001c0001t0001g0346a0001c0001t0001g0347others(4): Show | 7 | 368 | 0.0190 | 7 | c.361 others(24): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 4/26 | chr15 | TogoVar | ||||||
AP4B1_chr1_113889194_113909799 | 113897142 | C | CAAAAAAA | intron_variant | MODIFIER | HG00733.hp1 HG01168.hp2 HG01496.hp2 others(9): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0011 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0075a0001c0001t0002g0058others(4): Show | 12 | 434 | 0.0277 | 7 | c.130 others(24): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 7/9 | chr1 | TogoVar | ||||||
AP4B1_chr1_113889194_113909799 | 113907204 | G | GTTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG00741.hp2 others(22): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(1): Show | a0002c0002t0002g0003a0002c0002t0002g0016a0002c0002t0002g0018others(8): Show | 25 | 434 | 0.0576 | 7 | c.-24 others(18): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 2406 | chr1 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50977709 | T | TTTTTTTG | intron_variant | MODIFIER | HG01167.hp1 HG02071.hp2 HG02109.hp1 others(7): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0002a0002c0003t0006 | a0002c0002t0002g0052a0002c0002t0002g0053a0002c0002t0002g0110others(7): Show | 10 | 392 | 0.0255 | 7 | c.196 others(26): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4E1_chr15_50903683_51010895 | 50977710 | T | TTTTTTTG | intron_variant | MODIFIER | HG00621.hp2 HG01168.hp2 HG01943.hp2 others(5): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0002a0002c0003t0003a0002c0003t0020 | a0002c0002t0002g0087a0002c0003t0003g0025a0002c0003t0003g0026others(5): Show | 8 | 392 | 0.0204 | 7 | c.196 others(26): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31083496 | C | CTTTTTTT | intron_variant | MODIFIER | HG01257.hp2 HG01361.hp1 HG01433.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015a0001c0001t0042 | a0001c0001t0003g0026a0001c0001t0003g0130a0001c0001t0003g0145others(4): Show | 7 | 346 | 0.0202 | 7 | c.306 others(24): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP5S1_chr20_3815547_3833838 | 3824931 | C | CAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01123.hp1 HG01891.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0014a0001c0001t0020others(5): Show | a0001c0001t0009g0003a0001c0001t0009g0016a0001c0001t0009g0029others(7): Show | 19 | 412 | 0.0461 | 7 | c.*64 others(16): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 3/3 | 651 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||
AP5S1_chr20_3815547_3833838 | 3832236 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01123.hp1 HG01981.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0015a0001c0001t0026 | a0001c0001t0009g0003a0001c0001t0009g0029a0001c0001t0015g0003others(2): Show | 12 | 412 | 0.0291 | 7 | c.*79 others(18): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 3399 | chr20 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653691 | A | ATATATAT | intron_variant | MODIFIER | HG03669.hp1 HG04115.hp1 NA19054.hp2 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0257a0001c0001t0001g0258a0004c0006t0001g0256 | 3 | 366 | 0.0082 | 7 | c.526 others(24): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | chr12 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69483158 | A | AACGAAAC | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02257.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0033a0001c0001t0034others(6): Show | a0001c0001t0001g0186a0001c0001t0033g0017a0001c0001t0034g0207others(12): Show | 15 | 210 | 0.0714 | 7 | c.120 others(26): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 2/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69656885 | C | CCGGACTG | intron_variant | MODIFIER | HG03098.hp2 HG03516.hp1 NA19043.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0017 | a0002c0002t0003g0084a0002c0002t0017g0205a0002c0002t0017g0206 | 3 | 210 | 0.0143 | 7 | c.-70 others(26): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28951821 | T | TCCATCCG | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02258.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0003a0001c0007t0004a0002c0002t0003others(7): Show | a0001c0001t0003g0173a0001c0007t0004g0043a0001c0007t0004g0044others(9): Show | 12 | 204 | 0.0588 | 7 | c.-95 others(26): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26495381 | A | ACCTGTTC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(245): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0014a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(245): Show | 248 | 358 | 0.6927 | 7 | c.73- others(20): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB2_chr4_40805027_41219542 | 40854790 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01109.hp2 others(11): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0002a0001c0003t0001a0001c0003t0058others(8): Show | a0001c0002t0002g0122a0001c0003t0001g0038a0001c0003t0001g0052others(11): Show | 14 | 192 | 0.0729 | 7 | c.153 others(28): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40881528 | C | CTTTTCTT | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG01099.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0001c0002t0004a0001c0002t0010others(2): Show | a0001c0002t0002g0175a0001c0002t0004g0108a0001c0002t0010g0006others(2): Show | 5 | 192 | 0.0260 | 7 | c.152 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40881528 | C | CTTTTTTT | intron_variant | MODIFIER | HG01261.hp2 HG01975.hp1 HG03130.hp1 others(9): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0002t0002a0001c0002t0017others(6): Show | a0001c0002t0001g0109a0001c0002t0002g0084a0001c0002t0002g0085others(9): Show | 12 | 192 | 0.0625 | 7 | c.152 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40881534 | C | CTTTTTTT | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02109.hp2 others(10): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0048a0001c0003t0009a0001c0003t0011others(9): Show | a0001c0002t0048g0067a0001c0003t0009g0162a0001c0003t0011g0015others(10): Show | 13 | 192 | 0.0677 | 7 | c.152 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40928428 | A | ACACACAC | intron_variant | MODIFIER | HG01099.hp2 homoSapiens_chm13v2.hp1 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0036 | a0001c0003t0001g0050a0002c0001t0036g0113 | 2 | 192 | 0.0104 | 7 | c.125 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40957426 | T | TTTGAGTA | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG02559.hp1 others(16): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0005 | a0001c0003t0005a0001c0003t0006a0001c0003t0030others(14): Show | a0001c0003t0005g0130a0001c0003t0006g0134a0001c0003t0030g0021others(16): Show | 19 | 192 | 0.0990 | 7 | c.836 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41194149 | C | CAAAAAAA | intron_variant | MODIFIER | HG01258.hp2 HG01517.hp2 HG02622.hp1 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0043a0001c0003t0003a0001c0003t0004others(5): Show | a0001c0002t0043g0169a0001c0003t0003g0138a0001c0003t0004g0139others(5): Show | 8 | 192 | 0.0417 | 7 | c.-41 others(28): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
APCDD1L_chr20_58454101_58520399 | 58486854 | G | GTTTTTTT | intron_variant | MODIFIER | HG01081.hp1 HG01361.hp2 HG01516.hp2 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0304a0001c0001t0002g0264a0001c0001t0002g0265others(14): Show | 17 | 376 | 0.0452 | 7 | c.50- others(24): Show |
APCDD1L | ENSG00000198768.11 | transcript | ENST00000371149.8 | protein_coding | 1/3 | chr20 | TogoVar | ||||||
APC_chr5_112732885_112851239 | 112836165 | T | TTCCCCCC | intron_variant | MODIFIER | HG00673.hp2 HG00741.hp1 HG01071.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0193a0001c0001t0001g0201a0001c0001t0001g0202others(31): Show | 34 | 294 | 0.1157 | 7 | c.195 others(26): Show |
APC | ENSG00000134982.18 | transcript | ENST00000257430.9 | protein_coding | 15/15 | chr5 | TogoVar | ||||||
APLF_chr2_68462585_68585162 | 68469014 | G | GTGTGTGT | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01169.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0001a0002c0002t0007g0029a0002c0002t0007g0030others(1): Show | 5 | 176 | 0.0284 | 7 | c.96+ others(22): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
APLP2_chr11_130064894_130149805 | 130083026 | C | CTTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 HG04184.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0002a0005c0008t0002 | a0001c0001t0002g0190a0001c0001t0002g0213a0001c0001t0002g0214others(2): Show | 5 | 274 | 0.0183 | 7 | c.105 others(26): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
APOA4_chr11_116815700_116828304 | 116818631 | T | TATATATA | downstream_gene_variant | MODIFIER | HG00558.hp1 HG01993.hp1 HG02132.hp1 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001 | a0001c0001t0001g0004a0001c0001t0002g0001a0001c0006t0001g0008 | 9 | 462 | 0.0195 | 7 | c.*22 others(18): Show |
APOA4 | ENSG00000110244.7 | transcript | ENST00000357780.5 | protein_coding | 2068 | chr11 | TogoVar | ||||||
APOBEC1_chr12_7644400_7670908 | 7659322 | A | ATATATAT | intron_variant | MODIFIER | HG01167.hp2 HG02896.hp1 HG02970.hp2 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0085a0002c0001t0001g0098a0002c0001t0001g0101others(1): Show | 4 | 432 | 0.0093 | 7 | c.17- others(22): Show |
APOBEC1 | ENSG00000111701.7 | transcript | ENST00000229304.5 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
APOBEC3H_chr22_39092244_39109067 | 39093582 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00673.hp2 HG01261.hp2 others(15): Show |
a0003a0004a0005others(1): Show | a0003c0003a0004c0004a0005c0008others(1): Show | a0003c0003t0002a0004c0004t0002a0005c0008t0001others(1): Show | a0003c0003t0002g0003a0004c0004t0002g0003a0004c0004t0002g0018others(6): Show | 18 | 418 | 0.0431 | 7 | c.-37 others(18): Show |
APOBEC3H | ENSG00000100298.16 | transcript | ENST00000442487.8 | protein_coding | 3661 | chr22 | TogoVar | ||||||
APOBEC4_chr1_183641275_183658316 | 183656113 | C | CTTTTCTT | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02647.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002a0002c0002t0002g0018 | 7 | 378 | 0.0185 | 7 | c.-30 others(18): Show |
APOBEC4 | ENSG00000173627.8 | transcript | ENST00000308641.6 | protein_coding | 2798 | chr1 | TogoVar | ||||||
APOBEC4_chr1_183641275_183658316 | 183656113 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00733.hp1 others(77): Show |
a0002a0008 | a0002c0002a0008c0008 | a0002c0002t0001a0002c0002t0002a0002c0002t0007others(5): Show | a0002c0002t0001g0008a0002c0002t0001g0013a0002c0002t0001g0017others(11): Show | 80 | 378 | 0.2116 | 7 | c.-30 others(18): Show |
APOBEC4 | ENSG00000173627.8 | transcript | ENST00000308641.6 | protein_coding | 2798 | chr1 | TogoVar | ||||||
APOC2_chr19_44941051_44954565 | 44954274 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp1 others(143): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0005a0005c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0011others(39): Show | 146 | 398 | 0.3668 | 7 | c.*50 others(18): Show |
APOC2 | ENSG00000234906.11 | transcript | ENST00000252490.7 | protein_coding | 4710 | chr19 | TogoVar | ||||||
APOC4_chr19_44937237_44950496 | 44938184 | G | GTTTTGTT | upstream_gene_variant | MODIFIER | HG01928.hp2 HG03831.hp1 NA18968.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 398 | 0.0126 | 7 | c.-40 others(18): Show |
APOC4 | ENSG00000267467.4 | transcript | ENST00000592954.2 | protein_coding | 4052 | chr19 | TogoVar | ||||||
APOL5_chr22_35712872_35734483 | 35717235 | A | AAATATAT | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02056.hp2 HG03041.hp2 others(4): Show |
a0001a0005a0007 | a0001c0001a0001c0004a0005c0005others(1): Show | a0001c0001t0001a0001c0004t0001a0005c0005t0001others(1): Show | a0001c0001t0001g0063a0001c0004t0001g0121a0005c0005t0001g0012others(2): Show | 7 | 401 | 0.0175 | 7 | c.-63 others(16): Show |
APOL5 | ENSG00000128313.2 | transcript | ENST00000249044.2 | protein_coding | 636 | chr22 | TogoVar | ||||||
APOL5_chr22_35712872_35734483 | 35717738 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01255.hp2 HG02145.hp1 HG02451.hp2 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0002a0001c0004t0001a0002c0002t0001others(4): Show | a0001c0001t0002g0004a0001c0004t0001g0005a0002c0002t0001g0001others(8): Show | 17 | 401 | 0.0424 | 7 | c.-13 others(16): Show |
APOL5 | ENSG00000128313.2 | transcript | ENST00000249044.2 | protein_coding | 133 | chr22 | TogoVar |