| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP8A2_chr13_25366974_26030851 | 25539060 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp1 HG01175.hp2 others(7): Show |
a0001 | a0001c0004a0001c0006a0001c0011others(3): Show | a0001c0004t0003a0001c0004t0005a0001c0004t0022others(7): Show | a0001c0004t0003g0007a0001c0004t0005g0089a0001c0004t0022g0054others(7): Show | 10 | 122 | 0.0820 | -8 | c.581 others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25554510 | CATGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG03579.hp1 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0070 | a0001c0002t0006g0119a0001c0002t0070g0068 | 2 | 122 | 0.0164 | -8 | c.118 others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 12/36 | chr13 | TogoVar | ||||||
| ATP8A2_chr13_25366974_26030851 | 25637092 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02055.hp1 HG02809.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0019a0001c0001t0041a0001c0001t0046others(4): Show | a0001c0001t0019g0004a0001c0001t0041g0044a0001c0001t0046g0045others(4): Show | 7 | 122 | 0.0574 | -8 | c.221 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25657052 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02965.hp1 HG03195.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0041a0001c0001t0046a0001c0003t0073others(1): Show | a0001c0001t0041g0044a0001c0001t0046g0045a0001c0003t0073g0001others(1): Show | 4 | 122 | 0.0328 | -8 | c.221 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25701723 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01358.hp1 HG02647.hp1 HG02886.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0041a0001c0001t0059a0001c0002t0003others(7): Show | a0001c0001t0041g0044a0001c0001t0059g0022a0001c0002t0003g0088others(7): Show | 10 | 122 | 0.0820 | -8 | c.238 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25829668 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG03130.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0025a0001c0003t0061 | a0001c0001t0025g0009a0001c0003t0061g0055 | 2 | 122 | 0.0164 | -8 | c.275 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25836166 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01069.hp1 others(52): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(51): Show | a0001c0001t0003g0093a0001c0001t0004g0046a0001c0001t0010g0100others(52): Show | 55 | 122 | 0.4508 | -8 | c.275 others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25837423 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG02015.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0008a0001c0001t0041a0001c0001t0046others(16): Show | a0001c0001t0008g0073a0001c0001t0041g0044a0001c0001t0046g0045others(16): Show | 19 | 122 | 0.1557 | -8 | c.287 others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25912155 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01243.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0046a0001c0002t0023a0001c0002t0029others(5): Show | a0001c0001t0046g0045a0001c0002t0023g0013a0001c0002t0029g0052others(5): Show | 8 | 122 | 0.0656 | -8 | c.318 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8B1_chr18_57641426_57808315 | 57713192 | TTTCTTTC others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG01255.hp1 HG01884.hp1 others(3): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0003c0003t0018a0003c0003t0024others(3): Show | a0001c0001t0001g0131a0003c0003t0018g0282a0003c0003t0024g0185others(3): Show | 6 | 314 | 0.0191 | -8 | c.182 others(25): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57713196 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG02132.hp1 HG02145.hp2 HG02257.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0202a0001c0001t0003g0277a0001c0001t0004g0055others(4): Show | 7 | 314 | 0.0223 | -8 | c.182 others(25): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57732153 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01346.hp2 HG03130.hp1 NA20300.hp1 |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0011a0001c0001t0041a0006c0009t0033 | a0001c0001t0011g0159a0001c0001t0041g0192a0006c0009t0033g0080 | 3 | 314 | 0.0096 | -8 | c.-25 others(23): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57732227 | ATATATGT others(1): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01168.hp1 HG01256.hp2 others(18): Show |
a0001a0004a0010 | a0001c0001a0004c0008a0010c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0015others(18): Show | 21 | 314 | 0.0669 | -8 | c.-25 others(23): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57794792 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(67): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0019others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0015others(67): Show | 70 | 314 | 0.2229 | -8 | c.-26 others(25): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
| ATP8B2_chr1_154320525_154356304 | 154355219 | AACACACA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG00741.hp2 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0004a0001c0003t0002others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0020a0001c0001t0001g0059others(15): Show | 27 | 382 | 0.0707 | -8 | c.*61 others(19): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 3916 | chr1 | TogoVar | ||||||
| ATP8B3_chr19_1777075_1817276 | 1778866 | TCACACAC others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG02257.hp1 others(4): Show |
a0000a0001a0002 | a0000c0059a0001c0006a0001c0008others(1): Show | a0000c0059t0017a0001c0006t0002a0001c0008t0003others(1): Show | a0000c0059t0017g0091a0001c0006t0002g0045a0001c0008t0003g0188others(3): Show | 7 | 390 | 0.0180 | -8 | c.*41 others(19): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 3208 | chr19 | TogoVar | ||||||
| ATP8B3_chr19_1777075_1817276 | 1795784 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00639.hp1 others(23): Show |
a0000a0001a0002others(3): Show | a0000c0032a0000c0035a0000c0043others(14): Show | a0000c0032t0007a0000c0035t0007a0000c0043t0008others(16): Show | a0000c0032t0007g0129a0000c0035t0007g0165a0000c0035t0007g0166others(23): Show | 26 | 390 | 0.0667 | -8 | c.205 others(23): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 18/28 | chr19 | TogoVar | ||||||
| ATP8B3_chr19_1777075_1817276 | 1797468 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01070.hp2 others(18): Show |
a0000a0001a0002others(2): Show | a0000c0043a0000c0046a0000c0058others(11): Show | a0000c0043t0008a0000c0046t0008a0000c0058t0008others(14): Show | a0000c0043t0008g0247a0000c0046t0008g0358a0000c0058t0008g0379others(18): Show | 21 | 390 | 0.0539 | -8 | c.155 others(25): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 14/28 | chr19 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 49857140 | CTCTCTAT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01099.hp2 HG02074.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0019others(4): Show | a0001c0001t0004g0074a0001c0001t0006g0112a0001c0001t0006g0156others(6): Show | 9 | 254 | 0.0354 | -8 | c.*30 others(19): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 1097 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 49861422 | GTGTCTGT others(1): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG02165.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0003a0003c0003t0001others(1): Show | a0001c0001t0002g0068a0001c0001t0003g0123a0001c0001t0003g0210others(2): Show | 5 | 254 | 0.0197 | -8 | c.329 others(25): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 27/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 49978779 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG02809.hp2 HG02970.hp2 NA18522.hp1 |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0002a0003c0003t0001a0004c0004t0011 | a0001c0001t0002g0005a0003c0003t0001g0224a0004c0004t0011g0022 | 3 | 254 | 0.0118 | -8 | c.103 others(25): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 12/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50003274 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0029 | a0001c0001t0001g0088a0001c0001t0001g0117a0001c0001t0029g0250 | 3 | 254 | 0.0118 | -8 | c.436 others(25): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 7/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50021118 | TGATAGAT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00733.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0134a0001c0001t0001g0177a0001c0001t0001g0180others(13): Show | 16 | 254 | 0.0630 | -8 | c.363 others(27): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 6/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50072921 | CCTCTCTC others(1): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01884.hp1 HG02809.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0028a0002c0002t0008others(2): Show | a0001c0001t0002g0064a0001c0001t0028g0175a0002c0002t0008g0226others(2): Show | 5 | 254 | 0.0197 | -8 | c.87+ others(23): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50072980 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG02602.hp1 HG04199.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0003c0003t0007 | a0001c0001t0001g0230a0001c0001t0003g0168a0003c0003t0007g0060 | 3 | 254 | 0.0118 | -8 | c.87+ others(23): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50073019 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG01934.hp2 HG02056.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0030others(4): Show | a0001c0001t0001g0111a0001c0001t0003g0105a0001c0001t0030g0150others(5): Show | 8 | 254 | 0.0315 | -8 | c.87+ others(23): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50085869 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp2 HG03139.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0010a0001c0014t0001a0002c0002t0010others(2): Show | a0001c0001t0010g0092a0001c0014t0001g0099a0002c0002t0010g0093others(3): Show | 6 | 254 | 0.0236 | -8 | c.29- others(25): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50086369 | TATAATAA others(1): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(6): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0008 | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0177a0001c0001t0001g0179a0001c0001t0001g0180others(6): Show | 9 | 254 | 0.0354 | -8 | c.29- others(25): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50098266 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp2 HG01243.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0003g0122others(3): Show | 6 | 254 | 0.0236 | -8 | c.28+ others(23): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
| ATP9A_chr20_51591514_51773390 | 51600805 | AAAACACA others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01099.hp1 HG03017.hp2 HG03490.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0034a0001c0002t0021 | a0001c0001t0034g0159a0001c0002t0021g0201a0001c0002t0021g0226others(1): Show | 4 | 312 | 0.0128 | -8 | c.*39 others(17): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 28/28 | 398 | chr20 | TogoVar | |||||
| ATP9A_chr20_51591514_51773390 | 51638069 | TTTTATAT others(1): Show |
T | intron_variant | MODIFIER | HG02004.hp2 HG02071.hp2 NA18953.hp1 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0006a0001c0007t0001 | a0001c0001t0003g0235a0001c0001t0003g0302a0001c0001t0006g0022others(2): Show | 5 | 312 | 0.0160 | -8 | c.166 others(27): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | ||||||
| ATP9A_chr20_51591514_51773390 | 51638071 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG01515.hp1 HG02559.hp2 HG02922.hp2 others(6): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0002t0052a0001c0003t0014others(6): Show | a0001c0002t0001g0200a0001c0002t0052g0091a0001c0003t0014g0081others(6): Show | 9 | 312 | 0.0289 | -8 | c.166 others(27): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | ||||||
| ATP9A_chr20_51591514_51773390 | 51687201 | CAGGCGTG others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp2 HG01515.hp1 others(19): Show |
a0001 | a0001c0003a0001c0015a0001c0018 | a0001c0003t0007a0001c0003t0010a0001c0003t0012others(9): Show | a0001c0003t0007g0040a0001c0003t0007g0130a0001c0003t0010g0112others(19): Show | 22 | 312 | 0.0705 | -8 | c.799 others(25): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 9/27 | chr20 | TogoVar | ||||||
| ATP9A_chr20_51591514_51773390 | 51726889 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01243.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0013a0001c0001t0049others(7): Show | a0001c0001t0003g0124a0001c0001t0003g0125a0001c0001t0013g0060others(12): Show | 15 | 312 | 0.0481 | -8 | c.214 others(23): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 2/27 | chr20 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79138827 | CATAGACT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(104): Show |
a0002a0005a0006others(5): Show | a0002c0002a0002c0005a0002c0032others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(16): Show | a0002c0002t0001g0158a0002c0002t0001g0159a0002c0002t0001g0160others(104): Show | 107 | 298 | 0.3591 | -8 | c.668 others(25): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79163869 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02257.hp1 |
a0005 | a0005c0009 | a0005c0009t0005 | a0005c0009t0005g0167a0005c0009t0005g0168a0005c0009t0005g0170 | 3 | 298 | 0.0101 | -8 | c.778 others(25): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79206623 | CATAAATA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00544.hp1 others(86): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0001c0015others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(86): Show | 89 | 298 | 0.2987 | -8 | c.955 others(23): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79371370 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02258.hp2 others(5): Show |
a0001 | a0001c0004a0001c0006a0001c0013others(1): Show | a0001c0004t0004a0001c0006t0004a0001c0013t0004others(1): Show | a0001c0004t0004g0119a0001c0006t0004g0273a0001c0006t0004g0291others(5): Show | 8 | 298 | 0.0269 | -8 | c.301 others(27): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115196165 | CTGAATGA others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010a0001c0001t0013others(3): Show | a0001c0001t0008g0023a0001c0001t0010g0018a0001c0001t0013g0019others(3): Show | 6 | 128 | 0.0469 | -8 | c.134 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115230870 | TGAGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02145.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0085a0001c0001t0001g0088a0001c0001t0001g0096others(15): Show | 18 | 128 | 0.1406 | -8 | c.153 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115389540 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp2 HG02132.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0042others(10): Show | a0001c0001t0001g0085a0001c0001t0001g0088a0001c0001t0001g0101others(14): Show | 17 | 128 | 0.1328 | -8 | c.317 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115442297 | CTCTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02717.hp1 HG02896.hp1 others(4): Show |
a0001 | a0001c0005a0001c0007 | a0001c0005t0007a0001c0005t0018a0001c0005t0021others(2): Show | a0001c0005t0007g0002a0001c0005t0007g0004a0001c0005t0007g0009others(4): Show | 7 | 128 | 0.0547 | -8 | c.332 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115445430 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02717.hp1 HG02896.hp1 others(4): Show |
a0001 | a0001c0005a0001c0007 | a0001c0005t0007a0001c0005t0018a0001c0005t0021others(2): Show | a0001c0005t0007g0002a0001c0005t0007g0004a0001c0005t0007g0009others(4): Show | 7 | 128 | 0.0547 | -8 | c.332 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115445506 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01109.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0008a0001c0001t0020others(3): Show | a0001c0001t0002g0111a0001c0001t0002g0113a0001c0001t0002g0114others(5): Show | 8 | 128 | 0.0625 | -8 | c.332 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115527992 | CCCTCCCT others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01071.hp2 HG01109.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0098a0001c0001t0001g0124a0001c0001t0002g0123others(14): Show | 17 | 128 | 0.1328 | -8 | c.371 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115527996 | CCCTTCCT others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00738.hp2 others(22): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(16): Show | a0001c0001t0002g0015a0001c0001t0002g0111a0001c0001t0002g0113others(22): Show | 25 | 128 | 0.1953 | -8 | c.371 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115528037 | TCTTCCTT others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01891.hp1 others(20): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(15): Show | a0001c0001t0002g0015a0001c0001t0002g0111a0001c0001t0002g0113others(20): Show | 23 | 128 | 0.1797 | -8 | c.371 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115528065 | CCTTCCTT others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00738.hp1 others(51): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0098a0001c0001t0001g0120a0001c0001t0001g0124others(51): Show | 54 | 128 | 0.4219 | -8 | c.371 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115577610 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01943.hp2 HG02258.hp1 HG02723.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0008 | a0001c0001t0003a0001c0003t0037a0002c0008t0011 | a0001c0001t0003g0074a0001c0003t0037g0121a0002c0008t0011g0073 | 3 | 128 | 0.0234 | -8 | c.379 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115595210 | TCCTTCCT others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01081.hp2 others(28): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0036a0001c0001t0001g0055a0001c0001t0001g0065others(28): Show | 31 | 128 | 0.2422 | -8 | c.379 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |