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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP1M1_chr19_16192911_16250906 | 16196935 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(94): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0002t0005a0001c0002t0007others(49): Show | a0001c0002t0002g0026a0001c0002t0002g0028a0001c0002t0002g0100others(94): Show | 97 | 308 | 0.3149 | -7 | c.-10 others(18): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 975 | chr19 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16239239 | CTTTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG01071.hp1 HG01167.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0021a0001c0002t0046others(6): Show | a0001c0002t0010g0095a0001c0002t0010g0145a0001c0002t0010g0146others(10): Show | 13 | 308 | 0.0422 | -7 | c.*48 others(18): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 4838 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AP1M1_chr19_16192911_16250906 | 16244792 | TGCAGTCC | T | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02922.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0115a0001c0001t0153a0001c0001t0165 | a0001c0001t0115g0224a0001c0001t0153g0033a0001c0001t0165g0032 | 3 | 308 | 0.0097 | -7 | c.*10 others(20): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 10366 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AP1M2_chr19_10567671_10592312 | 10570735 | AAGAAAAG | A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02071.hp2 HG02129.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0045others(4): Show | 9 | 394 | 0.0228 | -7 | c.*23 others(18): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1935 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10572461 | AAAAAAAG | A | downstream_gene_variant | MODIFIER | HG00544.hp2 HG02071.hp1 HG02074.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215a0001c0001t0001g0276a0001c0001t0001g0282others(4): Show | 7 | 394 | 0.0178 | -7 | c.*59 others(16): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 209 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10586453 | TAAAAAAA | T | intron_variant | MODIFIER | HG02523.hp2 NA18946.hp1 NA18968.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0007 | a0001c0002t0004g0015a0001c0002t0004g0034a0001c0002t0004g0035others(7): Show | 11 | 394 | 0.0279 | -7 | c.42+ others(20): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15831662 | CTAAAACT | C | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 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 | 15834472 | ATATATAT | A | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01071.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0191 | 7 | 318 | 0.0220 | -7 | c.427 others(24): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15834473 | TATATATA | T | intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0038 | 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 | 15841865 | TGGGGTTA | T | intron_variant | MODIFIER | HG02280.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0146a0001c0002t0001g0138 | 2 | 318 | 0.0063 | -7 | c.426 others(24): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223762342 | GGCTCACT | G | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(120): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(23): Show | a0001c0001t0002g0004a0001c0001t0002g0006a0001c0001t0002g0007others(120): Show | 123 | 340 | 0.3618 | -7 | c.429 others(24): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49810678 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG01934.hp1 HG01978.hp2 others(19): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0104others(17): Show | 22 | 342 | 0.0643 | -7 | c.*39 others(18): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 3565 | chr19 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35642308 | AGTACCAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp2 others(179): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0016others(9): Show | a0001c0001t0004g0160a0001c0001t0004g0318a0001c0001t0004g0320others(178): Show | 182 | 372 | 0.4893 | -7 | c.153 others(24): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35651871 | AAACATGT | A | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01123.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0062a0001c0001t0006g0066a0001c0001t0006g0067others(10): Show | 13 | 372 | 0.0350 | -7 | c.179 others(26): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 13/21 | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35720573 | ATTTTTTT | A | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG03130.hp1 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0001t0008a0001c0006t0004 | a0001c0001t0004g0337a0001c0001t0004g0339a0001c0001t0004g0344others(7): Show | 10 | 372 | 0.0269 | -7 | c.278 others(26): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2M1_chr3_184169855_184189091 | 184174585 | GAAAAAAA | G | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01496.hp2 HG01891.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0004 | a0001c0001t0001g0011a0001c0001t0001g0065a0001c0003t0001g0006others(1): Show | 15 | 422 | 0.0356 | -7 | c.-41 others(16): Show |
AP2M1 | ENSG00000161203.14 | transcript | ENST00000292807.9 | protein_coding | 269 | chr3 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46853899 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01243.hp1 HG02055.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013a0001c0001t0001g0291a0001c0001t0001g0294others(7): Show | 13 | 424 | 0.0307 | -7 | c.-31 others(18): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 3054 | chr19 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78168226 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(30): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(30): Show | 33 | 226 | 0.1460 | -7 | c.116 others(26): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78282848 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(54): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0144others(54): Show | 57 | 226 | 0.2522 | -7 | c.128 others(26): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | TogoVar | ||||||
AP3B2_chr15_82654281_82714875 | 82683047 | GTTTTTTT | G | intron_variant | MODIFIER | HG01928.hp1 HG01975.hp2 HG01981.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159a0001c0001t0001g0160a0001c0001t0001g0163others(11): Show | 14 | 368 | 0.0380 | -7 | c.361 others(24): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 4/26 | chr15 | TogoVar | ||||||
AP3B2_chr15_82654281_82714875 | 82699269 | GGCAGGCA | G | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00597.hp2 others(76): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0020a0001c0001t0001g0021others(73): Show | 79 | 368 | 0.2147 | -7 | c.114 others(24): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/26 | chr15 | TogoVar | ||||||
AP3M1_chr10_74115255_74155828 | 74126970 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00673.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(2): Show | a0001c0001t0001g0082a0001c0001t0003g0008a0001c0001t0003g0011others(38): Show | 53 | 334 | 0.1587 | -7 | c.804 others(22): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 6/8 | chr10 | TogoVar | ||||||
AP3M1_chr10_74115255_74155828 | 74128124 | AGGAAAAG | A | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035a0001c0001t0003g0225a0001c0001t0003g0257others(1): Show | 5 | 334 | 0.0150 | -7 | c.803 others(22): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 6/8 | chr10 | TogoVar | ||||||
AP4B1_chr1_113889194_113909799 | 113907204 | GTTTTTTT | G | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01516.hp2 HG01517.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(1): Show | 10 | 434 | 0.0230 | -7 | c.-24 others(18): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 2406 | chr1 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31032071 | CAAAAAAA | C | intron_variant | MODIFIER | HG02074.hp2 HG02451.hp2 HG02970.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(2): Show | a0001c0001t0001g0206a0001c0001t0001g0270a0001c0001t0010g0271others(7): Show | 10 | 346 | 0.0289 | -7 | c.-72 others(24): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31053589 | CTTTTTTT | C | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG01069.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0337a0001c0001t0001g0340others(14): Show | 17 | 346 | 0.0491 | -7 | c.-71 others(26): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP5S1_chr20_3815547_3833838 | 3817008 | TTTTTTTG | T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(64): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0002g0036others(15): Show | 67 | 412 | 0.1626 | -7 | c.-37 others(18): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 3538 | chr20 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4776562 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG01070.hp2 HG02109.hp1 others(22): Show |
a0001a0003a0010others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0049a0001c0002t0003others(11): Show | a0001c0001t0001g0048a0001c0001t0049g0087a0001c0002t0003g0029others(17): Show | 25 | 340 | 0.0735 | -7 | c.41+ others(20): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AP5Z1_chr7_4770623_4799397 | 4789985 | CCCCCTCT | C | intron_variant | MODIFIER | HG02922.hp1 HG03225.hp2 HG03471.hp1 others(1): Show |
a0003a0011a0015 | a0003c0004a0011c0013a0015c0029 | a0003c0004t0007a0011c0013t0021a0011c0013t0045others(1): Show | a0003c0004t0007g0101a0011c0013t0021g0030a0011c0013t0045g0030others(1): Show | 4 | 340 | 0.0118 | -7 | c.180 others(22): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98653656 | CAAAAAAA | C | intron_variant | MODIFIER | HG01192.hp2 HG01346.hp1 HG01516.hp1 others(26): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0003g0141a0001c0001t0003g0143a0001c0001t0003g0144others(26): Show | 29 | 366 | 0.0792 | -7 | c.526 others(24): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APBA1_chr9_69422532_69677371 | 69543276 | TCCCCCCC | T | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG01074.hp1 others(54): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(7): Show | a0001c0001t0001g0009a0001c0001t0001g0021a0001c0001t0001g0022others(54): Show | 57 | 210 | 0.2714 | -7 | c.-69 others(26): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29023441 | CTTTTTTT | C | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02622.hp2 others(6): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0010 | a0001c0001t0008a0001c0001t0012a0001c0001t0033others(4): Show | a0001c0001t0008g0163a0001c0001t0012g0199a0001c0001t0033g0152others(6): Show | 9 | 204 | 0.0441 | -7 | c.-41 others(26): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 29056603 | TCCCTCCC | T | intron_variant | MODIFIER | HG01358.hp1 HG01934.hp1 HG01978.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0066a0001c0001t0001g0085a0001c0001t0002g0195 | 3 | 204 | 0.0147 | -7 | c.951 others(24): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29116054 | GAGCTCCC | G | intron_variant | MODIFIER | HG03209.hp2 HG03579.hp2 |
a0002 | a0002c0002a0002c0017 | a0002c0002t0003a0002c0017t0034 | a0002c0002t0003g0101a0002c0017t0034g0177 | 2 | 204 | 0.0098 | -7 | c.217 others(26): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 14/14 | chr15 | TogoVar | ||||||
APBA3_chr19_3745772_3766692 | 3747671 | GAGGCTCC | G | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02486.hp1 others(17): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0001a0003c0006others(3): Show | a0001c0002t0002a0002c0001t0003a0003c0006t0002others(4): Show | a0001c0002t0002g0028a0001c0002t0002g0061a0001c0002t0002g0062others(11): Show | 20 | 450 | 0.0444 | -7 | c.*33 others(18): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 3100 | chr19 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26445129 | AAAGAAAG | A | intron_variant | MODIFIER | HG00597.hp2 HG00642.hp1 HG01069.hp1 others(40): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0015others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(40): Show | 43 | 358 | 0.1201 | -7 | c.-1+ others(22): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26497721 | ATTTTTTT | A | intron_variant | MODIFIER | HG00673.hp1 HG01175.hp1 HG01346.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0055a0001c0001t0001g0061a0001c0001t0001g0072others(24): Show | 27 | 358 | 0.0754 | -7 | c.160 others(24): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB2_chr4_40805027_41219542 | 40861811 | GTTTTCTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(73): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(40): Show | a0001c0002t0001g0039a0001c0002t0001g0070a0001c0002t0001g0101others(73): Show | 76 | 192 | 0.3958 | -7 | c.152 others(28): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40922628 | TGAGATAG | T | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02486.hp1 others(6): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0001others(1): Show | a0001c0003t0001a0001c0004t0006a0002c0001t0003others(6): Show | a0001c0003t0001g0106a0001c0004t0006g0160a0002c0001t0003g0151others(6): Show | 9 | 192 | 0.0469 | -7 | c.125 others(28): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40928421 | CACACACA | C | intron_variant | MODIFIER | HG00438.hp2 HG01993.hp1 HG02165.hp2 others(8): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0022others(8): Show | a0001c0002t0002g0098a0001c0002t0004g0028a0001c0002t0022g0031others(8): Show | 11 | 192 | 0.0573 | -7 | c.125 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40948890 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01169.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0004 | a0001c0004t0003g0043a0001c0004t0004g0044a0001c0004t0004g0045others(2): Show | 5 | 192 | 0.0260 | -7 | c.836 others(24): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40961667 | TAAAAAAA | T | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG01069.hp2 others(10): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0002a0001c0002t0022a0001c0003t0003others(8): Show | a0001c0002t0002g0098a0001c0002t0022g0031a0001c0003t0003g0138others(10): Show | 13 | 192 | 0.0677 | -7 | c.836 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40982332 | AAGGAAGG | A | intron_variant | MODIFIER | HG01192.hp1 NA18522.hp1 |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0052a0002c0001t0057 | a0001c0004t0052g0093a0002c0001t0057g0074 | 2 | 192 | 0.0104 | -7 | c.835 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40982380 | AAGGAAGG | A | intron_variant | MODIFIER | HG01516.hp2 HG01993.hp1 |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0003a0002c0001t0003 | a0001c0004t0003g0103a0002c0001t0003g0048 | 2 | 192 | 0.0104 | -7 | c.835 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41079549 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp2 others(47): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0002a0001c0002t0017a0001c0002t0018others(35): Show | a0001c0002t0002g0119a0001c0002t0017g0094a0001c0002t0017g0095others(47): Show | 50 | 192 | 0.2604 | -7 | c.-14 others(28): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41161170 | CAAAAAAA | C | intron_variant | MODIFIER | HG01258.hp2 HG02647.hp1 HG02738.hp1 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0043a0001c0003t0003a0002c0001t0027others(2): Show | a0001c0002t0043g0169a0001c0003t0003g0138a0002c0001t0027g0018others(2): Show | 5 | 192 | 0.0260 | -7 | c.-41 others(28): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
APC_chr5_112732885_112851239 | 112758313 | GTTTGTTT | G | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG00642.hp2 others(99): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(6): Show | a0001c0001t0001g0193a0001c0001t0001g0194a0001c0001t0001g0195others(99): Show | 102 | 294 | 0.3469 | -7 | c.135 others(24): Show |
APC | ENSG00000134982.18 | transcript | ENST00000257430.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
APC_chr5_112732885_112851239 | 112836009 | CTTTTTTT | C | intron_variant | MODIFIER | HG00741.hp2 HG01496.hp2 HG02056.hp1 others(24): Show |
a0001a0005 | a0001c0003a0001c0019a0001c0026others(1): Show | a0001c0003t0002a0001c0003t0006a0001c0003t0010others(3): Show | a0001c0003t0002g0004a0001c0003t0002g0046a0001c0003t0002g0047others(24): Show | 27 | 294 | 0.0918 | -7 | c.195 others(24): Show |
APC | ENSG00000134982.18 | transcript | ENST00000257430.9 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
APLF_chr2_68462585_68585162 | 68469014 | GTGTGTGT | G | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG02886.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0043a0002c0002t0002g0044a0002c0002t0002g0045others(5): Show | 8 | 176 | 0.0455 | -7 | c.96+ others(22): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
APLF_chr2_68462585_68585162 | 68542135 | ATATAACT | A | intron_variant | MODIFIER | HG01167.hp2 HG02055.hp1 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0023a0002c0002t0008g0024a0002c0002t0008g0025 | 3 | 176 | 0.0171 | -7 | c.116 others(26): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |