| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP8B4_chr15_49853238_50124233 | 50017991 | CTTTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01255.hp1 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(8): Show | a0001c0001t0001g0177a0001c0001t0001g0180a0001c0001t0001g0183others(12): Show | 15 | 254 | 0.0591 | -5 | c.363 others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 6/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50051451 | AAGAAG | A | intron_variant | MODIFIER | HG02074.hp2 NA18951.hp2 NA18955.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0192a0001c0001t0002g0055a0002c0002t0001g0189others(7): Show | 10 | 254 | 0.0394 | -5 | c.88- others(20): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50085994 | ATTTAT | A | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG03491.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0008a0002c0002t0001 | a0001c0001t0003g0105a0001c0001t0003g0122a0001c0001t0003g0123others(2): Show | 5 | 254 | 0.0197 | -5 | c.29- others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50086448 | TAATAG | T | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG02451.hp2 others(7): Show |
a0001a0002a0012 | a0001c0001a0001c0014a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0113a0001c0001t0002g0064a0001c0001t0003g0105others(7): Show | 10 | 254 | 0.0394 | -5 | c.29- others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50086473 | TAATAA | T | intron_variant | MODIFIER | HG02055.hp2 NA20300.hp1 |
a0002a0010 | a0002c0002a0010c0012 | a0002c0002t0001a0010c0012t0001 | a0002c0002t0001g0164a0010c0012t0001g0096 | 2 | 254 | 0.0079 | -5 | c.29- others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50086496 | TATTTA | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(103): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0002c0021others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0110others(103): Show | 106 | 254 | 0.4173 | -5 | c.29- others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50086542 | TAATAA | T | intron_variant | MODIFIER | HG02451.hp1 HG02717.hp1 |
a0009 | a0009c0009 | a0009c0009t0001a0009c0009t0024 | a0009c0009t0001g0187a0009c0009t0024g0186 | 2 | 254 | 0.0079 | -5 | c.29- others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50086781 | TAATAA | T | intron_variant | MODIFIER | HG02809.hp2 HG03225.hp2 |
a0004 | a0004c0004 | a0004c0004t0005a0004c0004t0011 | a0004c0004t0005g0248a0004c0004t0011g0022 | 2 | 254 | 0.0079 | -5 | c.29- others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50087102 | ATAGAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(120): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0014a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0110others(120): Show | 123 | 254 | 0.4843 | -5 | c.29- others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50113838 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(57): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0144a0001c0001t0001g0192a0001c0001t0001g0206others(56): Show | 60 | 254 | 0.2362 | -5 | c.-43 others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
| ATP9A_chr20_51591514_51773390 | 51610659 | AGCTCT | A | intron_variant | MODIFIER | HG01884.hp2 HG02976.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0012a0001c0003t0060 | a0001c0003t0012g0085a0001c0003t0012g0086a0001c0003t0012g0087others(1): Show | 4 | 312 | 0.0128 | -5 | c.257 others(22): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 23/27 | chr20 | TogoVar | ||||||
| ATP9A_chr20_51591514_51773390 | 51642725 | CCAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(21): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(8): Show | a0001c0002t0001g0200a0001c0002t0002g0005a0001c0002t0002g0161others(21): Show | 24 | 312 | 0.0769 | -5 | c.150 others(24): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 14/27 | chr20 | TogoVar | ||||||
| ATP9A_chr20_51591514_51773390 | 51661526 | CTTTTT | C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01361.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0303a0001c0001t0002g0274a0001c0001t0003g0068others(11): Show | 14 | 312 | 0.0449 | -5 | c.129 others(24): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 13/27 | chr20 | TogoVar | ||||||
| ATP9A_chr20_51591514_51773390 | 51676917 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(32): Show |
a0001 | a0001c0002a0001c0014 | a0001c0002t0002a0001c0002t0005a0001c0002t0007others(11): Show | a0001c0002t0002g0005a0001c0002t0002g0161a0001c0002t0005g0048others(32): Show | 35 | 312 | 0.1122 | -5 | c.800 others(20): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 9/27 | chr20 | TogoVar | ||||||
| ATP9A_chr20_51591514_51773390 | 51718814 | CAAAAA | C | intron_variant | MODIFIER | HG01258.hp1 HG01515.hp2 HG01516.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(6): Show | a0001c0001t0001g0037a0001c0001t0001g0147a0001c0001t0001g0193others(14): Show | 17 | 312 | 0.0545 | -5 | c.328 others(22): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 3/27 | chr20 | TogoVar | ||||||
| ATP9A_chr20_51591514_51773390 | 51744151 | ATTATT | A | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp2 HG02717.hp2 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0008a0001c0005t0046 | a0001c0005t0008g0046a0001c0005t0008g0111a0001c0005t0008g0113others(2): Show | 5 | 312 | 0.0160 | -5 | c.69- others(22): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | ||||||
| ATP9A_chr20_51591514_51773390 | 51762705 | CTTTTT | C | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG02027.hp2 others(16): Show |
a0001 | a0001c0001a0001c0008a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0273a0001c0001t0001g0282a0001c0001t0002g0274others(16): Show | 19 | 312 | 0.0609 | -5 | c.68+ others(20): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | ||||||
| ATP9A_chr20_51591514_51773390 | 51767073 | CTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG01256.hp2 HG01884.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0002t0005a0001c0003t0012others(1): Show | a0001c0001t0003g0084a0001c0002t0005g0083a0001c0003t0012g0085others(3): Show | 6 | 312 | 0.0192 | -5 | c.68+ others(20): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79098092 | ACAACT | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(89): Show |
a0002a0006a0007others(4): Show | a0002c0002a0002c0005a0002c0032others(7): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(13): Show | a0002c0002t0002g0173a0002c0002t0002g0174a0002c0002t0002g0175others(89): Show | 92 | 298 | 0.3087 | -5 | c.293 others(22): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 2/29 | chr18 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79104611 | TTATAA | T | intron_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01071.hp1 others(30): Show |
a0001a0003a0004others(1): Show | a0001c0006a0001c0010a0003c0007others(5): Show | a0001c0006t0003a0001c0006t0004a0001c0006t0007others(8): Show | a0001c0006t0003g0267a0001c0006t0003g0268a0001c0006t0003g0281others(29): Show | 33 | 298 | 0.1107 | -5 | c.294 others(22): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79116952 | AAAAAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(75): Show |
a0002a0006a0010others(1): Show | a0002c0002a0002c0005a0002c0032others(3): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(9): Show | a0002c0002t0002g0173a0002c0002t0002g0174a0002c0002t0002g0175others(75): Show | 78 | 298 | 0.2617 | -5 | c.558 others(22): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79149032 | TAAGTA | T | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp2 HG01081.hp2 others(85): Show |
a0001a0003a0012others(3): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(25): Show | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(85): Show | 88 | 298 | 0.2953 | -5 | c.726 others(22): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79150081 | AAAAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01071.hp1 others(8): Show |
a0001a0004 | a0001c0006a0004c0008a0004c0036 | a0001c0006t0003a0001c0006t0004a0004c0008t0001others(1): Show | a0001c0006t0003g0267a0001c0006t0003g0268a0001c0006t0004g0273others(7): Show | 11 | 298 | 0.0369 | -5 | c.727 others(22): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79155753 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01071.hp1 others(10): Show |
a0001a0004 | a0001c0006a0001c0038a0001c0039others(2): Show | a0001c0006t0003a0001c0006t0004a0001c0038t0001others(3): Show | a0001c0006t0003g0267a0001c0006t0003g0268a0001c0006t0004g0273others(9): Show | 13 | 298 | 0.0436 | -5 | c.778 others(22): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79157396 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(16): Show |
a0001a0002a0004 | a0001c0006a0002c0002a0004c0008others(1): Show | a0001c0006t0003a0001c0006t0004a0002c0002t0001others(2): Show | a0001c0006t0003g0267a0001c0006t0003g0268a0001c0006t0004g0273others(15): Show | 19 | 298 | 0.0638 | -5 | c.778 others(22): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79163843 | ATATTT | A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02257.hp1 others(2): Show |
a0005 | a0005c0009 | a0005c0009t0005 | a0005c0009t0005g0165a0005c0009t0005g0166a0005c0009t0005g0167others(2): Show | 5 | 298 | 0.0168 | -5 | c.778 others(22): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79182649 | CATATT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(201): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0004others(29): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(46): Show | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(200): Show | 204 | 298 | 0.6846 | -5 | c.873 others(22): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79219543 | TGAAAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00639.hp2 others(65): Show |
a0001a0002a0006others(3): Show | a0001c0003a0001c0004a0001c0006others(8): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0011others(17): Show | a0001c0003t0001g0136a0001c0003t0001g0137a0001c0003t0003g0112others(65): Show | 68 | 298 | 0.2282 | -5 | c.110 others(24): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79249840 | AAAAAT | A | intron_variant | MODIFIER | HG02559.hp1 HG03225.hp1 HG03516.hp1 others(1): Show |
a0001a0006a0014 | a0001c0010a0001c0017a0006c0012others(1): Show | a0001c0010t0004a0001c0017t0004a0006c0012t0003others(1): Show | a0001c0010t0004g0277a0001c0017t0004g0099a0006c0012t0003g0222others(1): Show | 4 | 298 | 0.0134 | -5 | c.110 others(24): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79292746 | GTTTGT | G | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01891.hp2 others(3): Show |
a0002a0005 | a0002c0032a0005c0009 | a0002c0032t0005a0005c0009t0005 | a0002c0032t0005g0195a0005c0009t0005g0165a0005c0009t0005g0166others(3): Show | 6 | 298 | 0.0201 | -5 | c.141 others(26): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 13/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79296088 | TCACTG | T | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01891.hp2 others(3): Show |
a0002a0005 | a0002c0032a0005c0009 | a0002c0032t0005a0005c0009t0005 | a0002c0032t0005g0195a0005c0009t0005g0165a0005c0009t0005g0166others(3): Show | 6 | 298 | 0.0201 | -5 | c.141 others(24): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 13/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79348248 | GAAAAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00609.hp2 others(98): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0001c0010others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(98): Show | 101 | 298 | 0.3389 | -5 | c.290 others(20): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79354568 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(69): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0002a0001c0003t0002a0001c0004t0002others(14): Show | a0001c0001t0002g0079a0001c0003t0002g0135a0001c0004t0002g0097others(69): Show | 72 | 298 | 0.2416 | -5 | c.290 others(24): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79371370 | TAAAAA | T | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00673.hp1 others(110): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(110): Show | 113 | 298 | 0.3792 | -5 | c.301 others(24): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATPAF2_chr17_18013021_18044168 | 18017171 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(99): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(82): Show | 102 | 328 | 0.3110 | -5 | c.*13 others(16): Show |
ATPAF2 | ENSG00000171953.16 | transcript | ENST00000474627.8 | protein_coding | 849 | chr17 | TogoVar | ||||||
| ATPSCKMT_chr5_10220507_10254888 | 10248227 | ACTAGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(236): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(27): Show | a0001c0002t0001g0074a0001c0002t0002g0011a0001c0002t0002g0014others(156): Show | 239 | 358 | 0.6676 | -5 | c.16+ others(20): Show |
ATPSCKMT | ENSG00000150756.14 | transcript | ENST00000511437.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| ATPSCKMT_chr5_10220507_10254888 | 10249930 | AAAAAC | A | upstream_gene_variant | MODIFIER | HG01192.hp2 HG02602.hp2 HG03490.hp1 others(7): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0003a0002c0001t0001 | a0001c0002t0003g0004a0001c0002t0003g0029a0001c0002t0003g0032others(5): Show | 10 | 358 | 0.0279 | -5 | c.-62 others(12): Show |
ATPSCKMT | ENSG00000150756.14 | transcript | ENST00000511437.6 | protein_coding | 43 | chr5 | TogoVar | ||||||
| ATRAID_chr2_27207041_27222157 | 27221753 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(70): Show |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0006 | a0001c0001t0002a0001c0001t0005a0004c0005t0002others(1): Show | a0001c0001t0002g0002a0001c0001t0002g0020a0001c0001t0002g0025others(4): Show | 73 | 302 | 0.2417 | -5 | c.*48 others(16): Show |
ATRAID | ENSG00000138085.18 | transcript | ENST00000380171.9 | protein_coding | 4597 | chr2 | TogoVar | ||||||
| ATRIP_chr3_48441737_48472645 | 48452870 | ATTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(194): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0009a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(82): Show | 197 | 360 | 0.5472 | -5 | c.552 others(20): Show |
ATRIP | ENSG00000164053.22 | transcript | ENST00000320211.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115098453 | CTTTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG02055.hp1 HG02622.hp1 others(7): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0010a0001c0001t0022a0001c0005t0007others(5): Show | a0001c0001t0010g0033a0001c0001t0010g0034a0001c0001t0022g0032others(7): Show | 10 | 128 | 0.0781 | -5 | c.293 others(22): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115193756 | GCTCTT | G | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01891.hp1 others(6): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0001t0011a0001c0001t0020others(3): Show | a0001c0001t0002g0111a0001c0001t0002g0113a0001c0001t0002g0114others(6): Show | 9 | 128 | 0.0703 | -5 | c.134 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115196573 | CTTTAT | C | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG00741.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0004others(7): Show | a0001c0001t0003g0061a0001c0002t0001g0041a0001c0002t0001g0045others(22): Show | 25 | 128 | 0.1953 | -5 | c.134 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115323402 | TCCCTC | T | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG00738.hp2 others(69): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0091a0001c0001t0001g0096a0001c0001t0001g0098others(69): Show | 72 | 128 | 0.5625 | -5 | c.303 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115388586 | ATAAGT | A | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01891.hp1 others(6): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0001t0011a0001c0001t0020others(3): Show | a0001c0001t0002g0111a0001c0001t0002g0113a0001c0001t0002g0114others(6): Show | 9 | 128 | 0.0703 | -5 | c.317 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115407985 | CTTTTT | C | intron_variant | MODIFIER | HG02572.hp1 HG02572.hp2 HG02809.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0015 | a0001c0001t0014a0001c0001t0015a0001c0001t0042others(5): Show | a0001c0001t0014g0001a0001c0001t0015g0064a0001c0001t0042g0095others(5): Show | 8 | 128 | 0.0625 | -5 | c.326 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 20/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115457542 | GTCTAT | G | intron_variant | MODIFIER | HG00639.hp2 HG02717.hp1 HG02896.hp1 others(4): Show |
a0001 | a0001c0005a0001c0007 | a0001c0005t0007a0001c0005t0018a0001c0005t0021others(2): Show | a0001c0005t0007g0002a0001c0005t0007g0004a0001c0005t0007g0009others(4): Show | 7 | 128 | 0.0547 | -5 | c.332 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115569776 | CTTTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01081.hp2 others(29): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0036a0001c0001t0001g0055a0001c0001t0001g0065others(29): Show | 32 | 128 | 0.2500 | -5 | c.379 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115587912 | AAGGAG | A | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01071.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0036a0001c0001t0001g0055a0001c0001t0001g0065others(40): Show | 43 | 128 | 0.3359 | -5 | c.379 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115697672 | CTATTA | C | intron_variant | MODIFIER | HG02055.hp1 HG02809.hp2 HG03471.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0010a0001c0003t0015a0001c0003t0038others(2): Show | a0001c0001t0010g0033a0001c0001t0010g0034a0001c0003t0015g0108others(3): Show | 6 | 128 | 0.0469 | -5 | c.379 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115730253 | CAAAAA | C | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00735.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(17): Show | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0003g0093others(21): Show | 24 | 128 | 0.1875 | -5 | c.390 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |