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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP3S2_chr15_89825599_89898994 | 89854796 | T | TGGGGG | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(42): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0124a0001c0001t0001g0154a0001c0001t0001g0166others(42): Show | 45 | 312 | 0.1442 | 5 | c.345 others(24): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89856883 | A | AAAAAG | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0294a0001c0001t0002g0272a0001c0001t0012g0295others(3): Show | 6 | 312 | 0.0192 | 5 | c.345 others(24): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50962017 | A | AAATAC | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(96): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0010a0002c0002others(3): Show | a0001c0001t0003a0001c0010t0002a0002c0002t0002others(10): Show | a0001c0001t0003g0313a0001c0010t0002g0355a0002c0002t0002g0009others(96): Show | 99 | 392 | 0.2526 | 5 | c.185 others(24): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4E1_chr15_50903683_51010895 | 50969512 | A | AATTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(228): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0010a0002c0002others(7): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(25): Show | a0001c0001t0003g0307a0001c0001t0003g0308a0001c0001t0003g0309others(227): Show | 231 | 392 | 0.5893 | 5 | c.196 others(24): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31083496 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG01169.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(1): Show | a0001c0001t0001g0210a0001c0001t0001g0219a0001c0001t0001g0223others(7): Show | 10 | 346 | 0.0289 | 5 | c.306 others(22): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP5M1_chr14_57263971_57303742 | 57300718 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG02630.hp2 HG02723.hp2 HG02922.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0007 | a0001c0002t0003g0003a0001c0002t0003g0006a0001c0002t0003g0009others(1): Show | 5 | 280 | 0.0179 | 5 | c.*11 others(18): Show |
AP5M1 | ENSG00000053770.12 | transcript | ENST00000261558.8 | protein_coding | 1977 | chr14 | TogoVar | ||||||
AP5S1_chr20_3815547_3833838 | 3816995 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG00735.hp1 others(38): Show |
a0001a0006 | a0001c0001a0006c0004 | a0001c0001t0005a0001c0001t0006a0001c0001t0009others(9): Show | a0001c0001t0005g0003a0001c0001t0005g0027a0001c0001t0006g0005others(15): Show | 41 | 412 | 0.0995 | 5 | c.-37 others(16): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 3551 | chr20 | TogoVar | ||||||
AP5S1_chr20_3815547_3833838 | 3818084 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00738.hp2 HG02027.hp1 HG02055.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0002g0002a0001c0001t0004g0002a0001c0001t0004g0003others(9): Show | 23 | 412 | 0.0558 | 5 | c.-26 others(16): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2462 | chr20 | TogoVar | ||||||
AP5S1_chr20_3815547_3833838 | 3824931 | C | CAAAAA | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(49): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0002a0001c0001t0016a0001c0001t0017others(6): Show | a0001c0001t0002g0002a0001c0001t0002g0014a0001c0001t0002g0036others(8): Show | 52 | 412 | 0.1262 | 5 | c.*64 others(14): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 3/3 | 651 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||
APAF1_chr12_98640290_98740433 | 98640441 | T | TCAAAA | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01952.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0063others(15): Show | 18 | 366 | 0.0492 | 5 | c.-54 others(16): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4848 | chr12 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69658293 | T | TCTCTC | intron_variant | MODIFIER | HG03491.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0026a0001c0001t0008g0070 | 2 | 210 | 0.0095 | 5 | c.-70 others(24): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29056606 | C | CTTCCT | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(3): Show |
a0002 | a0002c0002a0002c0003a0002c0006 | a0002c0002t0011a0002c0003t0013a0002c0006t0016others(1): Show | a0002c0002t0011g0123a0002c0003t0013g0081a0002c0006t0016g0099others(3): Show | 6 | 204 | 0.0294 | 5 | c.951 others(22): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 29056610 | C | CTCCCT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00597.hp1 others(67): Show |
a0001a0002a0004 | a0001c0001a0001c0009a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0014others(67): Show | 70 | 204 | 0.3431 | 5 | c.951 others(22): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 29109946 | T | TCTGTC | intron_variant | MODIFIER | HG01255.hp1 HG01891.hp2 HG02145.hp1 others(13): Show |
a0001a0002a0005 | a0001c0001a0001c0013a0002c0002others(5): Show | a0001c0001t0002a0001c0013t0009a0002c0002t0003others(9): Show | a0001c0001t0002g0116a0001c0001t0002g0117a0001c0013t0009g0127others(13): Show | 16 | 204 | 0.0784 | 5 | c.203 others(24): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26438484 | T | TTAAAA | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02809.hp1 others(10): Show |
a0001a0002a0010 | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0008a0001c0014t0006others(3): Show | a0001c0001t0002g0338a0001c0001t0002g0343a0001c0001t0002g0344others(10): Show | 13 | 358 | 0.0363 | 5 | c.-20 others(20): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26445128 | A | AAAAAG | intron_variant | MODIFIER | HG01243.hp1 HG02165.hp1 NA18948.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174a0001c0001t0001g0175a0001c0001t0001g0176others(3): Show | 6 | 358 | 0.0168 | 5 | c.-1+ others(20): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26456737 | T | TAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG01175.hp1 HG01358.hp2 others(26): Show |
a0001a0002a0004 | a0001c0001a0002c0006a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0067a0001c0001t0001g0117others(26): Show | 29 | 358 | 0.0810 | 5 | 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 | 26476446 | C | CAAAAA | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG00735.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0021others(48): Show | 51 | 358 | 0.1425 | 5 | c.1-1 others(20): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26476466 | G | GAAGAA | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02055.hp2 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0193a0001c0001t0002g0294a0002c0002t0001g0144others(3): Show | 6 | 358 | 0.0168 | 5 | c.1-1 others(20): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26484295 | G | GTTTGT | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02055.hp2 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0193a0001c0001t0002g0294a0001c0001t0003g0304others(4): Show | 7 | 358 | 0.0196 | 5 | c.1-8 others(18): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26516543 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00741.hp1 others(24): Show |
a0001a0002a0006 | a0001c0001a0002c0006a0006c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0043a0001c0001t0001g0119others(24): Show | 27 | 358 | 0.0754 | 5 | c.813 others(22): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB2_chr4_40805027_41219542 | 40846326 | C | CAAAAA | intron_variant | MODIFIER | HG02976.hp2 HG03130.hp1 HG03486.hp2 others(2): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0001 | a0001c0003t0005a0001c0003t0006a0001c0003t0009others(2): Show | a0001c0003t0005g0130a0001c0003t0006g0134a0001c0003t0009g0162others(2): Show | 5 | 192 | 0.0260 | 5 | c.153 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40851739 | T | TATATA | intron_variant | MODIFIER | HG00438.hp2 NA18983.hp1 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0049 | a0001c0002t0004g0028a0001c0002t0049g0097 | 2 | 192 | 0.0104 | 5 | c.153 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40863891 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00735.hp1 others(11): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0001 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(8): Show | a0001c0002t0001g0099a0001c0002t0001g0137a0001c0002t0003g0174others(11): Show | 14 | 192 | 0.0729 | 5 | c.152 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40864256 | A | AAAAAC | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02109.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0048a0001c0002t0049a0001c0003t0011others(2): Show | a0001c0002t0048g0067a0001c0002t0049g0097a0001c0003t0011g0015others(3): Show | 6 | 192 | 0.0313 | 5 | c.152 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40903228 | A | AGCTGG | intron_variant | MODIFIER | HG00735.hp1 HG01071.hp2 HG01099.hp2 others(26): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0021others(19): Show | a0001c0002t0001g0137a0001c0002t0001g0173a0001c0002t0002g0104others(26): Show | 29 | 192 | 0.1510 | 5 | c.125 others(24): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40928428 | A | ACACAC | intron_variant | MODIFIER | HG02970.hp1 HG04204.hp1 NA19065.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0001c0002t0002a0002c0001t0031 | a0001c0002t0001g0099a0001c0002t0002g0061a0002c0001t0031g0017 | 3 | 192 | 0.0156 | 5 | c.125 others(24): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40932881 | C | CGTTTT | intron_variant | MODIFIER | HG02451.hp2 HG02647.hp2 HG02886.hp2 others(8): Show |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0006a0002c0001t0001a0002c0001t0003others(7): Show | a0001c0004t0006g0160a0002c0001t0001g0075a0002c0001t0001g0148others(8): Show | 11 | 192 | 0.0573 | 5 | c.125 others(24): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40946460 | A | ATACGT | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG00733.hp1 others(22): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0022others(16): Show | a0001c0002t0002g0098a0001c0002t0004g0028a0001c0002t0022g0031others(22): Show | 25 | 192 | 0.1302 | 5 | c.836 others(22): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40946460 | A | ATATGT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(26): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(15): Show | a0001c0002t0001g0101a0001c0002t0002g0061a0001c0002t0002g0104others(26): Show | 29 | 192 | 0.1510 | 5 | c.836 others(22): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41194665 | A | AAAAAT | intron_variant | MODIFIER | HG01255.hp2 HG02451.hp2 HG02622.hp2 others(6): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0001others(1): Show | a0001c0003t0001a0001c0004t0004a0001c0004t0006others(6): Show | a0001c0003t0001g0159a0001c0004t0004g0144a0001c0004t0006g0160others(6): Show | 9 | 192 | 0.0469 | 5 | c.-41 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
APC2_chr19_1445121_1478244 | 1462655 | C | CAAAAA | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02615.hp2 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0009others(2): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0044others(3): Show | a0001c0001t0001g0261a0001c0001t0001g0263a0002c0002t0002g0027others(12): Show | 16 | 350 | 0.0457 | 5 | c.185 others(22): Show |
APC2 | ENSG00000115266.12 | transcript | ENST00000590469.6 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
APCDD1L_chr20_58454101_58520399 | 58469348 | C | CAGACA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(266): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0009a0001c0011others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(86): Show | a0001c0001t0001g0006a0001c0001t0001g0134a0001c0001t0001g0136others(261): Show | 269 | 376 | 0.7154 | 5 | c.188 others(22): Show |
APCDD1L | ENSG00000198768.11 | transcript | ENST00000371149.8 | protein_coding | 2/3 | chr20 | TogoVar | ||||||
APCDD1L_chr20_58454101_58520399 | 58486854 | G | GTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(134): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0011a0001c0017others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0006a0001c0001t0001g0142a0001c0001t0001g0148others(131): Show | 137 | 376 | 0.3644 | 5 | c.50- others(22): Show |
APCDD1L | ENSG00000198768.11 | transcript | ENST00000371149.8 | protein_coding | 1/3 | chr20 | TogoVar | ||||||
APC_chr5_112732885_112851239 | 112836165 | T | TCCCCC | intron_variant | MODIFIER | HG01884.hp2 HG02155.hp2 HG02258.hp2 others(10): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0003t0002 | a0001c0002t0004g0014a0001c0002t0004g0015a0001c0002t0004g0018others(10): Show | 13 | 294 | 0.0442 | 5 | c.195 others(24): Show |
APC | ENSG00000134982.18 | transcript | ENST00000257430.9 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
APC_chr5_112732885_112851239 | 112836165 | T | TTCCCC | intron_variant | MODIFIER | HG01358.hp2 NA19009.hp1 NA19070.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213a0001c0001t0001g0220a0001c0001t0001g0284others(1): Show | 4 | 294 | 0.0136 | 5 | c.195 others(24): Show |
APC | ENSG00000134982.18 | transcript | ENST00000257430.9 | protein_coding | 15/15 | chr5 | TogoVar | ||||||
APC_chr5_112732885_112851239 | 112846419 | A | AGAGTT | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00609.hp1 others(196): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(25): Show | a0001c0001t0001g0109a0001c0001t0001g0122a0001c0001t0001g0193others(194): Show | 199 | 294 | 0.6769 | 5 | c.*22 others(16): Show |
APC | ENSG00000134982.18 | transcript | ENST00000257430.9 | protein_coding | 181 | chr5 | TogoVar | ||||||
APH1A_chr1_150260404_150274016 | 150260751 | G | GACTTT | downstream_gene_variant | MODIFIER | NA18977.hp2 NA19054.hp1 NA19057.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 440 | 0.0091 | 5 | c.*53 others(16): Show |
APH1A | ENSG00000117362.13 | transcript | ENST00000369109.8 | protein_coding | 4652 | chr1 | TogoVar | ||||||
APH1A_chr1_150260404_150274016 | 150260751 | G | GATTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp2 others(70): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0018others(2): Show | 73 | 440 | 0.1659 | 5 | c.*53 others(16): Show |
APH1A | ENSG00000117362.13 | transcript | ENST00000369109.8 | protein_coding | 4652 | chr1 | TogoVar | ||||||
APH1A_chr1_150260404_150274016 | 150267790 | C | CTGGGG | splice_acceptor_variant others(1): Show |
HIGH | HG02451.hp1 HG02572.hp2 HG02622.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0015 | 9 | 440 | 0.0205 | 5 | c.285 others(16): Show |
APH1A | ENSG00000117362.13 | transcript | ENST00000369109.8 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
APLF_chr2_68462585_68585162 | 68481361 | A | AGTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(164): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0009a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(20): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(157): Show | 167 | 176 | 0.9489 | 5 | c.97- others(20): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
APLF_chr2_68462585_68585162 | 68551601 | T | TCCTTC | intron_variant | MODIFIER | HG02055.hp1 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0023a0002c0002t0008g0025 | 2 | 176 | 0.0114 | 5 | c.128 others(24): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 8/9 | chr2 | TogoVar | ||||||
APLF_chr2_68462585_68585162 | 68551603 | C | CTTCTT | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02486.hp1 others(5): Show |
a0002a0004a0008 | a0002c0002a0004c0004a0008c0008 | a0002c0002t0006a0004c0004t0003a0008c0008t0006 | a0002c0002t0006g0161a0002c0002t0006g0162a0002c0002t0006g0163others(5): Show | 8 | 176 | 0.0455 | 5 | c.128 others(24): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
APLF_chr2_68462585_68585162 | 68551604 | T | TTCTTC | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01169.hp1 others(3): Show |
a0002a0012 | a0002c0002a0012c0012 | a0002c0002t0007a0012c0012t0007 | a0002c0002t0007g0001a0002c0002t0007g0029a0002c0002t0007g0030others(2): Show | 6 | 176 | 0.0341 | 5 | c.128 others(24): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
APLN_chrX_129640259_129659956 | 129654965 | C | CACTGT | upstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0070 | 1 | 317 | 0.0032 | 5 | c.-33 others(14): Show |
APLN | ENSG00000171388.12 | transcript | ENST00000429967.3 | protein_coding | 10 | chrX | TogoVar | ||||||
APLP1_chr19_35863574_35884792 | 35865173 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02886.hp2 NA18967.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0002a0001c0003t0002a0001c0004t0002 | a0001c0002t0002g0048a0001c0003t0002g0031a0001c0003t0002g0040others(2): Show | 5 | 256 | 0.0195 | 5 | c.-34 others(16): Show |
APLP1 | ENSG00000105290.13 | transcript | ENST00000221891.9 | protein_coding | 3400 | chr19 | TogoVar | ||||||
APLP1_chr19_35863574_35884792 | 35884027 | G | GTTTTT | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(42): Show |
a0001a0004a0005 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0002a0001c0002t0003a0001c0003t0002others(4): Show | a0001c0002t0002g0011a0001c0002t0002g0019a0001c0002t0002g0048others(19): Show | 45 | 256 | 0.1758 | 5 | c.*45 others(16): Show |
APLP1 | ENSG00000105290.13 | transcript | ENST00000221891.9 | protein_coding | 4236 | chr19 | TogoVar | ||||||
APLP2_chr11_130064894_130149805 | 130083026 | C | CTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG02027.hp2 HG02083.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0152a0001c0001t0002g0003a0001c0001t0002g0203others(7): Show | 11 | 274 | 0.0402 | 5 | c.105 others(24): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
APOA1_chr11_116830751_116842622 | 116842618 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01257.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(1): Show | 22 | 448 | 0.0491 | 5 | c.-50 others(16): Show |
APOA1 | ENSG00000118137.10 | transcript | ENST00000236850.5 | protein_coding | 4997 | chr11 | TogoVar | ||||||
APOA4_chr11_116815700_116828304 | 116818631 | T | TATATA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG00597.hp2 others(36): Show |
a0001a0009a0012 | a0001c0001a0009c0017a0012c0019 | a0001c0001t0001a0001c0001t0002a0009c0017t0002others(1): Show | a0001c0001t0001g0004a0001c0001t0002g0001a0009c0017t0002g0028others(1): Show | 39 | 462 | 0.0844 | 5 | c.*22 others(16): Show |
APOA4 | ENSG00000110244.7 | transcript | ENST00000357780.5 | protein_coding | 2068 | chr11 | TogoVar |