| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AP2A2_chr11_920870_1017240 | 1012992 | TCTC | T | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02630.hp1 others(4): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0006a0001c0006t0018 | a0001c0003t0006g0135a0001c0003t0006g0264a0001c0003t0006g0265others(4): Show | 7 | 268 | 0.0261 | -3 | c.*23 others(14): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 753 | chr11 | TogoVar | ||||||
| AP2B1_chr17_35582322_35731413 | 35583115 | CTTT | C | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0009a0001c0002t0010 | a0001c0001t0005g0130a0001c0001t0005g0146a0001c0001t0005g0148others(3): Show | 6 | 372 | 0.0161 | -3 | c.-43 others(14): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 4206 | chr17 | TogoVar | ||||||
| AP2B1_chr17_35582322_35731413 | 35602925 | CGTT | C | intron_variant | MODIFIER | HG00673.hp2 HG02027.hp1 HG02135.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0320a0001c0001t0004g0321a0001c0001t0004g0322others(1): Show | 4 | 372 | 0.0108 | -3 | c.144 others(20): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| AP2B1_chr17_35582322_35731413 | 35607220 | AGTT | A | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG01123.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0165a0001c0004t0002g0166a0001c0004t0002g0167others(3): Show | 6 | 372 | 0.0161 | -3 | c.280 others(18): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| AP2B1_chr17_35582322_35731413 | 35626106 | CATT | C | intron_variant | MODIFIER | HG01109.hp2 HG01361.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0128others(1): Show | 4 | 372 | 0.0108 | -3 | c.717 others(18): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| AP2B1_chr17_35582322_35731413 | 35643753 | AGTC | A | intron_variant | MODIFIER | HG02258.hp2 HG02486.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179a0001c0001t0002g0180a0001c0001t0002g0181others(1): Show | 4 | 372 | 0.0108 | -3 | c.153 others(22): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| AP2B1_chr17_35582322_35731413 | 35693760 | ACTT | A | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp1 others(137): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0002t0010others(5): Show | a0001c0002t0001g0003a0001c0002t0001g0060a0001c0002t0001g0186others(136): Show | 140 | 372 | 0.3763 | -3 | c.245 others(24): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| AP2B1_chr17_35582322_35731413 | 35701940 | CATT | C | intron_variant | MODIFIER | HG01109.hp2 HG01361.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0128others(1): Show | 4 | 372 | 0.0108 | -3 | c.245 others(22): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| AP2B1_chr17_35582322_35731413 | 35720568 | TATA | T | intron_variant | MODIFIER | NA18992.hp1 NA19081.hp2 NA21309.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0011 | a0001c0002t0001g0275a0001c0002t0001g0285a0001c0002t0011g0192 | 3 | 372 | 0.0081 | -3 | c.278 others(22): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | chr17 | TogoVar | ||||||
| AP2S1_chr19_46833167_46855846 | 46855092 | CAAA | C | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02572.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0135a0001c0001t0001g0136a0001c0001t0002g0032others(4): Show | 7 | 424 | 0.0165 | -3 | c.-43 others(14): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4247 | chr19 | TogoVar | ||||||
| AP3B1_chr5_77997326_78299698 | 78015515 | ACAG | A | disruptive_inframe_deletion | MODERATE | HG01884.hp1 HG01884.hp2 HG02451.hp2 others(9): Show |
a0003 | a0003c0007a0003c0008a0003c0009 | a0003c0007t0002a0003c0008t0002a0003c0009t0002 | a0003c0007t0002g0072a0003c0007t0002g0079a0003c0007t0002g0081others(9): Show | 12 | 226 | 0.0531 | -3 | c.302 others(12): Show |
p.Ala others(7): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/27 | 3144/3980 | 3023/3285 | 1008/1094 | chr5 | TogoVar | ||
| AP3B1_chr5_77997326_78299698 | 78081912 | AAAC | A | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01884.hp1 others(14): Show |
a0001a0003a0006 | a0001c0004a0001c0005a0003c0009others(1): Show | a0001c0004t0001a0001c0004t0002a0001c0005t0001others(3): Show | a0001c0004t0001g0087a0001c0004t0002g0006a0001c0004t0002g0007others(14): Show | 17 | 226 | 0.0752 | -3 | c.257 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | ||||||
| AP3B1_chr5_77997326_78299698 | 78126504 | CAAA | C | intron_variant | MODIFIER | HG01346.hp1 HG01952.hp2 HG04228.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013a0001c0001t0001g0032a0001c0001t0002g0018others(2): Show | 5 | 226 | 0.0221 | -3 | c.196 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | TogoVar | ||||||
| AP3B1_chr5_77997326_78299698 | 78135781 | ATTG | A | intron_variant | MODIFIER | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(9): Show |
a0001a0006 | a0001c0004a0001c0005a0006c0013 | a0001c0004t0001a0001c0004t0002a0001c0005t0001others(2): Show | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(9): Show | 12 | 226 | 0.0531 | -3 | c.165 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | TogoVar | ||||||
| AP3B1_chr5_77997326_78299698 | 78165484 | AGTT | A | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(41): Show |
a0001a0003a0008 | a0001c0002a0001c0012a0003c0007others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0012t0001others(2): Show | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(41): Show | 44 | 226 | 0.1947 | -3 | c.123 others(20): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | TogoVar | ||||||
| AP3B1_chr5_77997326_78299698 | 78168219 | CTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG01070.hp1 HG02148.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0175a0001c0002t0002g0176a0001c0002t0002g0177others(2): Show | 5 | 226 | 0.0221 | -3 | c.116 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | ||||||
| AP3B1_chr5_77997326_78299698 | 78168223 | TTTC | T | intron_variant | MODIFIER | HG00642.hp2 HG02055.hp2 HG02280.hp1 others(6): Show |
a0001a0006 | a0001c0004a0001c0005a0006c0013 | a0001c0004t0002a0001c0005t0002a0006c0013t0002 | a0001c0004t0002g0185a0001c0005t0002g0004a0001c0005t0002g0187others(6): Show | 9 | 226 | 0.0398 | -3 | c.116 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | ||||||
| AP3B1_chr5_77997326_78299698 | 78216658 | GAAC | G | intron_variant | MODIFIER | HG02109.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144a0001c0001t0001g0145 | 2 | 226 | 0.0089 | -3 | c.604 others(18): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | TogoVar | ||||||
| AP3B1_chr5_77997326_78299698 | 78244427 | AAAG | A | intron_variant | MODIFIER | HG02258.hp2 HG02615.hp2 HG02630.hp1 others(8): Show |
a0001a0002a0003 | a0001c0004a0002c0003a0003c0008 | a0001c0004t0001a0001c0004t0002a0002c0003t0001others(1): Show | a0001c0004t0001g0005a0001c0004t0001g0077a0001c0004t0002g0001others(8): Show | 11 | 226 | 0.0487 | -3 | c.205 others(20): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | TogoVar | ||||||
| AP3B1_chr5_77997326_78299698 | 78248492 | CAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(28): Show |
a0001a0002a0005 | a0001c0001a0001c0010a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0002g0011others(28): Show | 31 | 226 | 0.1372 | -3 | c.205 others(20): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | TogoVar | ||||||
| AP3B1_chr5_77997326_78299698 | 78280683 | AAAC | A | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0004t0002a0001c0006t0001others(2): Show | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | 226 | 0.1327 | -3 | c.129 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | TogoVar | ||||||
| AP3B1_chr5_77997326_78299698 | 78282377 | GAAA | G | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02615.hp2 others(2): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0001a0001c0004t0002a0001c0005t0002 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | 226 | 0.0221 | -3 | c.128 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | TogoVar | ||||||
| AP3B2_chr15_82654281_82714875 | 82695095 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(88): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0007a0001c0015others(4): Show | a0001c0001t0001a0001c0007t0001a0001c0015t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0020a0001c0001t0001g0021others(85): Show | 91 | 368 | 0.2473 | -3 | c.114 others(20): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/26 | chr15 | TogoVar | ||||||
| AP3D1_chr19_2095988_2156566 | 2122207 | CCAG | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(141): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(18): Show | a0001c0001t0001g0176a0001c0003t0001g0071a0001c0003t0001g0191others(141): Show | 144 | 406 | 0.3547 | -3 | c.956 others(18): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 11/31 | chr19 | TogoVar | ||||||
| AP3D1_chr19_2095988_2156566 | 2131644 | ACCT | A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00673.hp1 others(24): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0013 | a0001c0001t0001a0001c0004t0002a0001c0004t0014others(1): Show | a0001c0001t0001g0243a0001c0004t0002g0051a0001c0004t0002g0213others(24): Show | 27 | 406 | 0.0665 | -3 | c.462 others(18): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 5/31 | chr19 | TogoVar | ||||||
| AP3D1_chr19_2095988_2156566 | 2143230 | ATTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(69): Show |
a0001a0002a0003 | a0001c0002a0001c0006a0001c0010others(2): Show | a0001c0002t0001a0001c0002t0012a0001c0006t0002others(4): Show | a0001c0002t0001g0003a0001c0002t0001g0004a0001c0002t0001g0251others(66): Show | 72 | 406 | 0.1773 | -3 | c.97- others(18): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
| AP3M1_chr10_74115255_74155828 | 74126970 | CAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG02559.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0011a0001c0001t0013others(1): Show | a0001c0001t0002g0162a0001c0001t0002g0189a0001c0001t0011g0203others(3): Show | 6 | 334 | 0.0180 | -3 | c.804 others(18): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 6/8 | chr10 | TogoVar | ||||||
| AP3M1_chr10_74115255_74155828 | 74137795 | GAGA | G | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011a0001c0001t0013 | a0001c0001t0007g0207a0001c0001t0011g0203a0001c0001t0011g0204others(2): Show | 5 | 334 | 0.0150 | -3 | c.273 others(18): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 2/8 | chr10 | TogoVar | ||||||
| AP3M1_chr10_74115255_74155828 | 74147283 | TCAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(123): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0002g0001a0001c0001t0002g0006a0001c0001t0002g0010others(94): Show | 126 | 334 | 0.3773 | -3 | c.-4+ others(18): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
| AP3M2_chr8_42148063_42176183 | 42157813 | CGTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00621.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0026others(13): Show | 53 | 392 | 0.1352 | -3 | c.274 others(18): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| AP3M2_chr8_42148063_42176183 | 42158246 | AGTT | A | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG00673.hp1 others(108): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0101a0001c0001t0003g0002a0001c0001t0003g0011others(54): Show | 111 | 392 | 0.2832 | -3 | c.445 others(18): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| AP3M2_chr8_42148063_42176183 | 42173951 | AGAC | A | downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0013a0001c0001t0005g0061 | 5 | 392 | 0.0128 | -3 | c.*48 others(14): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 2769 | chr8 | TogoVar | ||||||
| AP3S2_chr15_89825599_89898994 | 89832486 | ATTT | A | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01346.hp1 HG02723.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0016a0001c0001t0021a0001c0001t0023others(3): Show | a0001c0001t0016g0301a0001c0001t0016g0302a0001c0001t0021g0150others(5): Show | 8 | 312 | 0.0256 | -3 | c.*30 others(14): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 6/6 | 3026 | chr15 | TogoVar | |||||
| AP3S2_chr15_89825599_89898994 | 89855945 | TAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(143): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0022a0001c0001t0001g0051a0001c0001t0001g0054others(143): Show | 146 | 312 | 0.4680 | -3 | c.345 others(22): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
| AP3S2_chr15_89825599_89898994 | 89873281 | GTCT | G | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172a0001c0001t0001g0173a0001c0001t0001g0174 | 3 | 312 | 0.0096 | -3 | c.274 others(20): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 3/5 | chr15 | TogoVar | ||||||
| AP3S2_chr15_89825599_89898994 | 89875599 | TGAG | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(152): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0124a0001c0001t0001g0153a0001c0001t0001g0154others(152): Show | 155 | 312 | 0.4968 | -3 | c.274 others(20): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 3/5 | chr15 | TogoVar | ||||||
| AP3S2_chr15_89825599_89898994 | 89876586 | AAAG | A | intron_variant | MODIFIER | HG02723.hp1 HG03209.hp2 HG03453.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0016a0003c0004t0016 | a0001c0001t0016g0301a0001c0001t0016g0302a0003c0004t0016g0304 | 3 | 312 | 0.0096 | -3 | c.274 others(20): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 3/5 | chr15 | TogoVar | ||||||
| AP4E1_chr15_50903683_51010895 | 50911479 | ATTT | A | intron_variant | MODIFIER | HG00408.hp1 HG01257.hp1 HG02300.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0203a0001c0001t0001g0204a0001c0001t0001g0205others(3): Show | 6 | 392 | 0.0153 | -3 | c.151 others(18): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| AP4E1_chr15_50903683_51010895 | 50912364 | GTGA | G | intron_variant | MODIFIER | HG02622.hp2 HG02895.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0321a0001c0001t0009g0318a0001c0001t0009g0319others(1): Show | 4 | 392 | 0.0102 | -3 | c.222 others(18): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| AP4E1_chr15_50903683_51010895 | 50948339 | CTTT | C | intron_variant | MODIFIER | HG00621.hp2 HG01168.hp2 HG01943.hp2 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0020 | a0002c0003t0003g0025a0002c0003t0003g0026a0002c0003t0003g0027others(5): Show | 8 | 392 | 0.0204 | -3 | c.131 others(20): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| AP4E1_chr15_50903683_51010895 | 50982693 | CATT | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00609.hp1 others(73): Show |
a0002a0011 | a0002c0003a0011c0009 | a0002c0003t0003a0002c0003t0010a0002c0003t0013others(4): Show | a0002c0003t0003g0025a0002c0003t0003g0026a0002c0003t0003g0027others(72): Show | 76 | 392 | 0.1939 | -3 | c.196 others(22): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| AP4E1_chr15_50903683_51010895 | 50990344 | TTTA | T | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG03209.hp2 others(2): Show |
a0002a0004 | a0002c0003a0002c0006a0004c0005 | a0002c0003t0003a0002c0003t0022a0002c0006t0015others(1): Show | a0002c0003t0003g0031a0002c0003t0022g0007a0002c0006t0015g0347others(2): Show | 5 | 392 | 0.0128 | -3 | c.209 others(22): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| AP4E1_chr15_50903683_51010895 | 50998193 | TTGG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(200): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0002c0002others(5): Show | a0001c0001t0003a0001c0010t0002a0002c0002t0002others(19): Show | a0001c0001t0003g0307a0001c0001t0003g0308a0001c0001t0003g0309others(199): Show | 203 | 392 | 0.5179 | -3 | c.290 others(20): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| AP4E1_chr15_50903683_51010895 | 51006859 | CATG | C | downstream_gene_variant | MODIFIER | HG01167.hp1 HG02109.hp1 HG02486.hp1 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0186a0002c0003t0006g0187a0002c0003t0006g0188others(4): Show | 7 | 392 | 0.0179 | -3 | c.*41 others(14): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 965 | chr15 | TogoVar | ||||||
| AP4M1_chr7_100096643_100114039 | 100109584 | ACTC | A | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG03471.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0028a0001c0001t0029 | a0001c0001t0016g0018a0001c0001t0016g0066a0001c0001t0028g0063others(1): Show | 4 | 416 | 0.0096 | -3 | c.*27 others(14): Show |
AP4M1 | ENSG00000221838.11 | transcript | ENST00000359593.9 | protein_coding | 546 | chr7 | TogoVar | ||||||
| AP4S1_chr14_31020649_31101450 | 31046862 | AAAG | A | intron_variant | MODIFIER | HG01081.hp2 HG01168.hp2 HG01169.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008 | a0001c0001t0001g0003a0001c0001t0004g0094a0001c0001t0004g0095others(4): Show | 7 | 346 | 0.0202 | -3 | c.-71 others(22): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| AP4S1_chr14_31020649_31101450 | 31049429 | ATAT | A | intron_variant | MODIFIER | HG01346.hp2 HG02602.hp2 NA18939.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311a0001c0001t0001g0315a0001c0001t0001g0335 | 3 | 346 | 0.0087 | -3 | c.-71 others(22): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | chr14 | TogoVar | ||||||
| AP4S1_chr14_31020649_31101450 | 31053589 | CTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00621.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0015 | a0001c0001t0001g0096a0001c0001t0001g0100a0001c0001t0001g0207others(19): Show | 22 | 346 | 0.0636 | -3 | c.-71 others(22): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| AP4S1_chr14_31020649_31101450 | 31054867 | CAAA | C | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp1 HG01081.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0037a0001c0001t0001g0132others(21): Show | 24 | 346 | 0.0694 | -3 | c.-71 others(22): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| AP4S1_chr14_31020649_31101450 | 31092547 | TTAC | T | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp2 HG02647.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0074a0001c0001t0001g0075others(2): Show | 5 | 346 | 0.0145 | -3 | c.307 others(18): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |