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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP4S1_chr14_31020649_31101450 | 31049467 | ATATATG | A | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01952.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0320a0001c0001t0002g0001a0001c0001t0002g0163others(8): Show | 12 | 346 | 0.0347 | -6 | c.-71 others(25): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31049474 | TACACAC | T | intron_variant | MODIFIER | HG02074.hp2 NA18971.hp2 NA18989.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0271a0001c0001t0010g0272a0001c0001t0010g0273others(2): Show | 5 | 346 | 0.0145 | -6 | c.-71 others(25): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31058527 | ATGTGTG | A | intron_variant | MODIFIER | HG00544.hp2 HG01243.hp2 HG01346.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0284a0001c0001t0001g0285a0001c0001t0001g0289others(6): Show | 9 | 346 | 0.0260 | -6 | c.-71 others(23): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP5M1_chr14_57263971_57303742 | 57275420 | GGAGAGA | G | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG02559.hp1 others(8): Show |
a0003 | a0003c0004 | a0003c0004t0004a0003c0004t0011a0003c0004t0022others(1): Show | a0003c0004t0004g0008a0003c0004t0004g0019a0003c0004t0004g0102others(4): Show | 11 | 280 | 0.0393 | -6 | c.720 others(21): Show |
AP5M1 | ENSG00000053770.12 | transcript | ENST00000261558.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP5M1_chr14_57263971_57303742 | 57286996 | TACACAC | T | intron_variant | MODIFIER | HG00609.hp2 HG00642.hp1 HG00733.hp1 others(63): Show |
a0001a0002a0006others(1): Show | a0001c0002a0001c0009a0001c0011others(3): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(12): Show | a0001c0002t0002g0003a0001c0002t0002g0005a0001c0002t0002g0009others(35): Show | 66 | 280 | 0.2357 | -6 | c.139 others(23): Show |
AP5M1 | ENSG00000053770.12 | transcript | ENST00000261558.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP5S1_chr20_3815547_3833838 | 3821878 | CTTTTTT | C | intron_variant | MODIFIER | HG02486.hp1 HG02486.hp2 HG02818.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0018a0001c0001t0028others(2): Show | a0001c0001t0013g0012a0001c0001t0018g0009a0001c0001t0028g0009others(2): Show | 8 | 412 | 0.0194 | -6 | c.-16 others(21): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
AP5Z1_chr7_4770623_4799397 | 4776562 | CAAAAAA | C | intron_variant | MODIFIER | HG01071.hp1 HG01109.hp1 HG01243.hp1 others(34): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0002a0001c0025others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0002others(8): Show | a0001c0001t0002g0009a0001c0001t0006g0009a0001c0002t0002g0007others(17): Show | 37 | 340 | 0.1088 | -6 | c.41+ others(19): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98653656 | CAAAAAA | C | intron_variant | MODIFIER | HG02293.hp1 HG02922.hp1 NA18946.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0003g0136a0001c0001t0003g0137a0001c0001t0006g0157others(4): Show | 7 | 366 | 0.0191 | -6 | c.526 others(23): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98689435 | TGAGAGA | T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(54): Show |
a0001a0009 | a0001c0001a0001c0013a0009c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0004a0001c0001t0002g0209a0001c0001t0002g0221others(54): Show | 57 | 366 | 0.1557 | -6 | c.230 others(25): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98715235 | CATATAT | C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00741.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0035others(23): Show | 26 | 366 | 0.0710 | -6 | c.295 others(23): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APBA1_chr9_69422532_69677371 | 69501629 | AACACAC | A | intron_variant | MODIFIER | HG02040.hp2 HG02155.hp1 HG02486.hp1 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(5): Show | a0001c0001t0001g0191a0001c0001t0002g0044a0001c0001t0002g0076others(6): Show | 9 | 210 | 0.0429 | -6 | c.120 others(27): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 2/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69530306 | GTATATA | G | intron_variant | MODIFIER | HG00597.hp2 HG01074.hp1 HG01074.hp2 others(37): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0008a0001c0001t0014others(2): Show | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0058others(37): Show | 40 | 210 | 0.1905 | -6 | c.-69 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69530329 | TACACAC | T | intron_variant | MODIFIER | HG01255.hp1 HG02895.hp2 HG02897.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0002c0002t0003 | a0001c0001t0002g0079a0001c0001t0007g0042a0001c0001t0007g0047others(10): Show | 13 | 210 | 0.0619 | -6 | c.-69 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69569448 | AGTGTGT | A | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG01070.hp1 others(76): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0050a0001c0001t0001g0058a0001c0001t0001g0077others(76): Show | 79 | 210 | 0.3762 | -6 | c.-69 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69636826 | AGAGAGG | A | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01070.hp1 others(13): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0140a0001c0001t0001g0144a0001c0001t0001g0152others(13): Show | 16 | 210 | 0.0762 | -6 | c.-70 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69658276 | CTTTCTT | C | intron_variant | MODIFIER | HG02922.hp2 HG02976.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0007 | a0001c0001t0005g0056a0002c0002t0007g0048 | 2 | 210 | 0.0095 | -6 | c.-70 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69658288 | CTCTCTT | C | intron_variant | MODIFIER | HG02615.hp1 HG02886.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089a0001c0001t0002g0090a0001c0001t0002g0096 | 3 | 210 | 0.0143 | -6 | c.-70 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69658302 | CTCTCTT | C | intron_variant | MODIFIER | HG03098.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0087a0001c0001t0006g0088 | 2 | 210 | 0.0095 | -6 | c.-70 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69658310 | CTTTCTT | C | intron_variant | MODIFIER | HG02886.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089a0001c0001t0002g0090 | 2 | 210 | 0.0095 | -6 | c.-70 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28927344 | TTTTTTG | T | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG00738.hp2 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0057others(37): Show | 40 | 204 | 0.1961 | -6 | c.-95 others(23): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 29039098 | GGTGTGT | G | intron_variant | MODIFIER | HG00738.hp1 HG01071.hp2 HG01258.hp1 others(40): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0063others(40): Show | 43 | 204 | 0.2108 | -6 | c.-40 others(25): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 29074767 | TTAAGTA | T | intron_variant | MODIFIER | HG02622.hp2 HG02717.hp1 HG02895.hp1 others(2): Show |
a0002 | a0002c0002a0002c0003a0002c0014 | a0002c0002t0006a0002c0002t0008a0002c0002t0011others(2): Show | a0002c0002t0006g0178a0002c0002t0008g0198a0002c0002t0011g0110others(2): Show | 5 | 204 | 0.0245 | -6 | c.952 others(21): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26481826 | CGTGTGT | C | intron_variant | MODIFIER | HG00673.hp2 HG01069.hp1 HG01071.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0035a0001c0001t0001g0039others(4): Show | 7 | 358 | 0.0196 | -6 | c.1-1 others(21): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB1_chr11_6390125_6424094 | 6390705 | TGCTGGC | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00639.hp1 others(106): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(92): Show | 109 | 416 | 0.2620 | -6 | c.*48 others(17): Show |
APBB1 | ENSG00000166313.20 | transcript | ENST00000609360.6 | protein_coding | 4419 | chr11 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40838136 | CATTATT | C | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01109.hp2 others(12): Show |
a0001a0002a0003 | a0001c0003a0002c0001a0002c0005others(1): Show | a0001c0003t0001a0001c0003t0058a0002c0001t0001others(8): Show | a0001c0003t0001g0038a0001c0003t0058g0089a0002c0001t0001g0059others(12): Show | 15 | 192 | 0.0781 | -6 | c.153 others(25): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40846015 | GGTGTGT | G | intron_variant | MODIFIER | HG02630.hp2 HG02965.hp1 HG02976.hp2 others(4): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0005 | a0001c0003t0005a0001c0003t0006a0002c0001t0005others(1): Show | a0001c0003t0005g0130a0001c0003t0006g0134a0002c0001t0005g0152others(4): Show | 7 | 192 | 0.0365 | -6 | c.153 others(27): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40854790 | CAAAAAA | C | intron_variant | MODIFIER | HG00544.hp1 HG00733.hp2 HG01099.hp2 others(41): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0014others(17): Show | a0001c0002t0001g0039a0001c0002t0001g0070a0001c0002t0001g0101others(41): Show | 44 | 192 | 0.2292 | -6 | c.153 others(27): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40901909 | ATGTGTG | A | intron_variant | MODIFIER | HG02258.hp2 HG02622.hp2 HG02818.hp2 others(4): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0001 | a0001c0003t0009a0001c0003t0035a0001c0004t0051others(4): Show | a0001c0003t0009g0162a0001c0003t0035g0026a0001c0004t0051g0141others(4): Show | 7 | 192 | 0.0365 | -6 | c.125 others(25): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40930420 | AGTGTGT | A | intron_variant | MODIFIER | HG01981.hp2 HG02630.hp1 HG02647.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0005 | a0001c0003t0001a0001c0003t0014a0002c0001t0014others(1): Show | a0001c0003t0001g0053a0001c0003t0014g0068a0002c0001t0014g0128others(1): Show | 4 | 192 | 0.0208 | -6 | c.125 others(25): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40930444 | TGTGTGC | T | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp2 HG02559.hp2 others(4): Show |
a0001a0002a0004 | a0001c0002a0001c0004a0002c0001others(1): Show | a0001c0002t0001a0001c0004t0009a0001c0004t0019others(4): Show | a0001c0002t0001g0173a0001c0004t0009g0114a0001c0004t0019g0073others(4): Show | 7 | 192 | 0.0365 | -6 | c.125 others(25): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40930446 | TGTGCGC | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00597.hp2 others(19): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0001others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(15): Show | a0001c0003t0001g0054a0001c0003t0002g0096a0001c0003t0004g0139others(19): Show | 22 | 192 | 0.1146 | -6 | c.125 others(25): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40930448 | TGCGCGC | T | intron_variant | MODIFIER | HG02922.hp1 HG03098.hp1 HG03098.hp2 |
a0001a0002 | a0001c0004a0002c0005a0002c0008 | a0001c0004t0005a0002c0005t0028a0002c0008t0046 | a0001c0004t0005g0163a0002c0005t0028g0012a0002c0008t0046g0090 | 3 | 192 | 0.0156 | -6 | c.125 others(25): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40930462 | CGCGCGT | C | intron_variant | MODIFIER | HG02622.hp1 HG02622.hp2 HG02630.hp1 others(6): Show |
a0001a0002 | a0001c0004a0002c0001a0002c0005others(1): Show | a0001c0004t0005a0001c0004t0051a0002c0001t0003others(5): Show | a0001c0004t0005g0163a0001c0004t0051g0141a0002c0001t0003g0151others(6): Show | 9 | 192 | 0.0469 | -6 | c.125 others(25): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40961667 | TAAAAAA | T | intron_variant | MODIFIER | HG00438.hp2 HG01099.hp2 HG01192.hp2 others(21): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0004a0001c0003t0001a0001c0003t0007others(19): Show | a0001c0002t0004g0028a0001c0003t0001g0159a0001c0003t0001g0164others(21): Show | 24 | 192 | 0.1250 | -6 | c.836 others(25): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41000069 | ATGTGTG | A | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00597.hp2 others(23): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0005 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(13): Show | a0001c0003t0001g0029a0001c0003t0001g0042a0001c0003t0001g0049others(23): Show | 26 | 192 | 0.1354 | -6 | c.835 others(25): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41027364 | CATATAT | C | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG01169.hp2 others(8): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0001others(1): Show | a0001c0003t0001a0001c0003t0003a0001c0004t0003others(5): Show | a0001c0003t0001g0038a0001c0003t0003g0138a0001c0004t0003g0043others(8): Show | 11 | 192 | 0.0573 | -6 | c.19+ others(21): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 5/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41034761 | CATGCAT | C | intron_variant | MODIFIER | HG01169.hp1 HG02630.hp2 HG02647.hp1 others(8): Show |
a0002 | a0002c0005 | a0002c0005t0001a0002c0005t0005a0002c0005t0006others(4): Show | a0002c0005t0001g0100a0002c0005t0001g0142a0002c0005t0001g0149others(8): Show | 11 | 192 | 0.0573 | -6 | c.-50 others(23): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 4/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41050118 | AAAAAAT | A | intron_variant | MODIFIER | HG01099.hp2 HG02257.hp2 HG02258.hp1 others(21): Show |
a0002 | a0002c0001a0002c0005 | a0002c0001t0001a0002c0001t0003a0002c0001t0006others(15): Show | a0002c0001t0001g0077a0002c0001t0001g0078a0002c0001t0001g0125others(21): Show | 24 | 192 | 0.1250 | -6 | c.-51 others(25): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 4/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41086920 | CCACACA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(87): Show | a0001c0002t0001g0039a0001c0002t0001g0060a0001c0002t0001g0070others(176): Show | 179 | 192 | 0.9323 | -6 | c.-14 others(27): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41088286 | AAAGGTC | A | intron_variant | MODIFIER | HG02630.hp1 HG02809.hp1 HG02965.hp2 others(3): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0009a0002c0001t0001a0002c0001t0003others(3): Show | a0001c0003t0009g0162a0002c0001t0001g0148a0002c0001t0003g0147others(3): Show | 6 | 192 | 0.0313 | -6 | c.-14 others(27): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41159940 | GAGGAGA | G | intron_variant | MODIFIER | HG03490.hp2 HG04204.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0001 | a0001c0002t0002g0061a0002c0001t0001g0107 | 2 | 192 | 0.0104 | -6 | c.-41 others(27): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41178059 | AACACTT | A | intron_variant | MODIFIER | HG02976.hp2 HG03209.hp2 |
a0002 | a0002c0001 | a0002c0001t0005a0002c0001t0044 | a0002c0001t0005g0189a0002c0001t0044g0190 | 2 | 192 | 0.0104 | -6 | c.-41 others(27): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41196305 | AAGTGCC | A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0003a0001c0002t0018g0005 | 2 | 192 | 0.0104 | -6 | c.-41 others(27): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
APC2_chr19_1445121_1478244 | 1470562 | CGGGTCT | C | 3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02257.hp1 others(10): Show |
a0005a0033 | a0005c0004a0005c0014a0005c0060others(1): Show | a0005c0004t0003a0005c0014t0003a0005c0060t0021others(1): Show | a0005c0004t0003g0005a0005c0004t0003g0020a0005c0004t0003g0168others(7): Show | 13 | 350 | 0.0371 | -6 | c.*36 others(15): Show |
APC2 | ENSG00000115266.12 | transcript | ENST00000590469.6 | protein_coding | 15/15 | 361 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
APC_chr5_112732885_112851239 | 112745548 | TTTATTA | T | intron_variant | MODIFIER | HG01346.hp2 HG02615.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0008a0001c0002t0013 | a0001c0001t0001g0263a0001c0002t0008g0184a0001c0002t0008g0185others(1): Show | 4 | 294 | 0.0136 | -6 | c.-19 others(23): Show |
APC | ENSG00000134982.18 | transcript | ENST00000257430.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
APC_chr5_112732885_112851239 | 112820182 | GACACAC | G | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00642.hp1 others(37): Show |
a0001a0008a0013others(1): Show | a0001c0002a0008c0022a0013c0024others(1): Show | a0001c0002t0003a0001c0002t0013a0008c0022t0003others(2): Show | a0001c0002t0003g0001a0001c0002t0003g0002a0001c0002t0003g0075others(35): Show | 40 | 294 | 0.1361 | -6 | c.131 others(23): Show |
APC | ENSG00000134982.18 | transcript | ENST00000257430.9 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
APC_chr5_112732885_112851239 | 112836009 | CTTTTTT | C | intron_variant | MODIFIER | HG01496.hp1 HG01884.hp1 HG02622.hp2 others(4): Show |
a0001 | a0001c0003a0001c0010a0001c0014others(1): Show | a0001c0003t0002a0001c0010t0007a0001c0014t0007others(1): Show | a0001c0003t0002g0135a0001c0003t0002g0136a0001c0003t0002g0137others(4): Show | 7 | 294 | 0.0238 | -6 | c.195 others(23): Show |
APC | ENSG00000134982.18 | transcript | ENST00000257430.9 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
APC_chr5_112732885_112851239 | 112848547 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0005 | a0001c0005t0005a0001c0005t0011 | a0001c0005t0005g0005a0001c0005t0005g0006a0001c0005t0005g0007others(4): Show | 7 | 294 | 0.0238 | -6 | c.*44 others(17): Show |
APC | ENSG00000134982.18 | transcript | ENST00000257430.9 | protein_coding | 2309 | chr5 | TogoVar | ||||||
APEH_chr3_49669351_49688971 | 49673801 | CCTCACG | C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02622.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0045 | 8 | 318 | 0.0252 | -6 | c.-60 others(15): Show |
APEH | ENSG00000164062.13 | transcript | ENST00000296456.10 | protein_coding | 549 | chr3 | TogoVar | ||||||
APELA_chr4_164872178_164902527 | 164884115 | AAGAAAG | A | intron_variant | MODIFIER | HG00140.hp2 HG01106.hp1 HG01168.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0016a0001c0001t0001g0048a0001c0001t0001g0094others(20): Show | 32 | 434 | 0.0737 | -6 | c.*1+ others(21): Show |
APELA | ENSG00000248329.6 | transcript | ENST00000507152.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |