view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 | 50114103 | C | CTTTTTT | intron_variant | MODIFIER | HG01257.hp1 HG02055.hp1 HG03195.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0025a0002c0002t0001others(1): Show | a0001c0001t0001g0206 a0001c0001t0025g0240 a0002c0002t0001g0190 others(3): Show |
6 | 35 | 0.1714 | 6 | c.-43 others(23): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51600807 | A | AACACAC | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00558.hp1 others(52): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0017a0001c0001t0019others(11): Show | a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0029 others(52): Show |
55 | 170 | 0.3235 | 6 | c.*39 others(15): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 28/28 | 403 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51608921 | A | ATGTGTG | intron_variant | MODIFIER | HG02258.hp1 HG02630.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0015a0001c0003t0028 | a0001c0003t0015g0115 a0001c0003t0015g0131 a0001c0003t0015g0152 others(1): Show |
4 | 310 | 0.0129 | 6 | c.263 others(23): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 24/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51608922 | C | CGTGTGT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp2 others(57): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(29): Show | a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0193 others(57): Show |
60 | 65 | 0.9231 | 6 | c.263 others(23): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 24/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51638069 | T | TTATATA | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01070.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0022others(1): Show | a0001c0001t0001g0036 a0001c0001t0003g0069 a0001c0001t0003g0071 others(3): Show |
6 | 140 | 0.0429 | 6 | c.166 others(25): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51638071 | T | TTATATA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01168.hp1 others(7): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0004a0001c0002t0007a0001c0003t0048others(2): Show | a0001c0002t0004g0054 a0001c0002t0004g0201 a0001c0002t0004g0202 others(7): Show |
10 | 174 | 0.0575 | 6 | c.166 others(25): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51650902 | T | TACACAC | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00558.hp1 others(76): Show |
a0001a0003 | a0001c0001a0001c0007a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0078 others(76): Show |
79 | 219 | 0.3607 | 6 | c.150 others(25): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 14/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51651165 | T | TACACAC | intron_variant | MODIFIER | HG00741.hp2 HG01891.hp2 HG02055.hp1 others(13): Show |
a0001 | a0001c0003a0001c0015a0001c0018 | a0001c0003t0007a0001c0003t0010a0001c0003t0014others(5): Show | a0001c0003t0007g0040 a0001c0003t0007g0132 a0001c0003t0010g0125 others(13): Show |
16 | 310 | 0.0516 | 6 | c.150 others(25): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 14/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51658888 | C | CGGTGGG | intron_variant | MODIFIER | HG01069.hp2 HG01106.hp1 HG01167.hp1 others(16): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0171 others(16): Show |
19 | 67 | 0.2836 | 6 | c.129 others(25): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 13/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51658890 | G | GTGGGGC | intron_variant | MODIFIER | HG00323.hp1 HG01099.hp2 HG01169.hp2 others(13): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0094 a0001c0001t0001g0148 others(13): Show |
16 | 309 | 0.0518 | 6 | c.129 others(25): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 13/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51681427 | C | CTTTTTT | intron_variant | MODIFIER | HG01175.hp1 HG02451.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0007others(2): Show | a0001c0002t0002g0005 a0001c0002t0004g0192 a0001c0002t0007g0006 others(3): Show |
6 | 185 | 0.0324 | 6 | c.800 others(23): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 9/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51702365 | C | CGTGTGT | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp2 HG01168.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(13): Show | a0001c0001t0001g0243 a0001c0001t0009g0009 a0001c0001t0011g0140 others(20): Show |
23 | 148 | 0.1554 | 6 | c.437 others(23): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 4/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51743396 | A | ATTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01070.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0094 a0001c0001t0001g0193 a0001c0001t0001g0245 others(19): Show |
22 | 84 | 0.2619 | 6 | c.69- others(23): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51753454 | A | AAACAAC | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0002g0204 a0001c0001t0003g0069 a0001c0001t0003g0071 others(10): Show |
13 | 111 | 0.1171 | 6 | c.68+ others(23): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79071399 | C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01071.hp1 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0006a0001c0010others(4): Show | a0001c0001t0001a0001c0006t0003a0001c0006t0004others(6): Show | a0001c0001t0001g0006 a0001c0006t0003g0267 a0001c0006t0003g0268 others(12): Show |
16 | 17 | 0.9412 | 6 | c.119 others(23): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79086435 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(85): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0004a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(21): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(84): Show |
88 | 89 | 0.9888 | 6 | c.120 others(25): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79157207 | T | TACACAC | intron_variant | MODIFIER | HG02293.hp2 HG02451.hp2 HG02559.hp1 others(6): Show |
a0001a0004a0013 | a0001c0001a0001c0006a0001c0010others(2): Show | a0001c0001t0001a0001c0006t0004a0001c0006t0007others(3): Show | a0001c0001t0001g0089 a0001c0006t0004g0291 a0001c0006t0004g0293 others(6): Show |
9 | 81 | 0.1111 | 6 | c.778 others(23): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79163869 | T | TACACAC | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00609.hp1 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0003others(11): Show | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0003t0002g0149 others(24): Show |
27 | 95 | 0.2842 | 6 | c.778 others(23): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79190511 | T | TACACAC | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00639.hp2 others(31): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(11): Show | a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0003t0001g0136 others(31): Show |
34 | 194 | 0.1753 | 6 | c.874 others(23): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79216078 | A | ATTAAAT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(31): Show | a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0003t0001g0136 others(106): Show |
110 | 296 | 0.3716 | 6 | c.110 others(25): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79231803 | T | TATATAC | intron_variant | MODIFIER | HG02451.hp1 HG03098.hp2 HG03453.hp2 others(4): Show |
a0001a0005a0011others(1): Show | a0001c0001a0005c0016a0011c0030others(1): Show | a0001c0001t0001a0005c0016t0001a0011c0030t0001others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0025 others(4): Show |
7 | 33 | 0.2121 | 6 | c.110 others(27): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79256257 | C | CTATATA | intron_variant | MODIFIER | HG02155.hp1 HG02698.hp2 HG03516.hp2 others(2): Show |
a0001a0002a0013 | a0001c0004a0001c0006a0002c0002others(1): Show | a0001c0004t0003a0001c0006t0003a0002c0002t0002others(1): Show | a0001c0004t0003g0041 a0001c0006t0003g0282 a0002c0002t0002g0249 others(2): Show |
5 | 100 | 0.0500 | 6 | c.126 others(25): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79292478 | T | TTAAGAC | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0011a0001c0014 | a0001c0011t0006a0001c0014t0006 | a0001c0011t0006g0105 a0001c0011t0006g0106 a0001c0011t0006g0107 others(2): Show |
5 | 296 | 0.0169 | 6 | c.141 others(27): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 13/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79376172 | A | AACACAC | intron_variant | MODIFIER | HG00733.hp2 HG01517.hp1 HG01975.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0006a0001c0011others(4): Show | a0001c0004t0003a0001c0006t0004a0001c0011t0006others(4): Show | a0001c0004t0003g0096 a0001c0006t0004g0294 a0001c0011t0006g0105 others(17): Show |
20 | 134 | 0.1493 | 6 | c.330 others(23): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATPAF1_chr1_46627737_46673364 | 46654528 | T | TTTATTA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(106): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0002g0002 a0001c0001t0002g0044 a0001c0001t0002g0047 others(55): Show |
109 | 299 | 0.3645 | 6 | c.490 others(21): Show |
ATPAF1 | ENSG00000123472.13 | transcript | ENST00000574428.6 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
ATPAF2_chr17_18013021_18044168 | 18019147 | C | CCACACA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00597.hp2 others(87): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 others(69): Show |
90 | 115 | 0.7826 | 6 | c.733 others(21): Show |
ATPAF2 | ENSG00000171953.16 | transcript | ENST00000474627.8 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
ATRAID_chr2_27207041_27222157 | 27221780 | T | TTTTTTA | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02647.hp1 HG02735.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0004 a0003c0003t0004g0011 |
6 | 284 | 0.0211 | 6 | c.*48 others(17): Show |
ATRAID | ENSG00000138085.18 | transcript | ENST00000380171.9 | protein_coding | 4624 | chr2 | TogoVar | |||||||
ATRNL1_chr10_115088365_115953999 | 115214041 | T | TACACAC | intron_variant | MODIFIER | HG01109.hp2 HG02280.hp1 HG02523.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0074 a0001c0001t0001g0088 a0001c0001t0001g0091 others(21): Show |
24 | 33 | 0.7273 | 6 | c.134 others(25): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115214067 | C | CACACAT | intron_variant | MODIFIER | HG02258.hp1 HG02896.hp2 HG03195.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0014a0001c0001t0042a0001c0003t0037 | a0001c0001t0014g0001 a0001c0001t0042g0099 a0001c0003t0037g0075 |
3 | 126 | 0.0238 | 6 | c.134 others(25): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115230870 | T | TGAGAGA | intron_variant | MODIFIER | HG02258.hp1 HG02896.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0001t0042a0001c0003t0037others(1): Show | a0001c0001t0011g0114 a0001c0001t0042g0099 a0001c0003t0037g0075 others(1): Show |
4 | 31 | 0.1290 | 6 | c.153 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115230903 | G | GAGAGAA | intron_variant | MODIFIER | HG02055.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0033 a0001c0001t0010g0034 |
2 | 125 | 0.0160 | 6 | c.153 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115271165 | T | TACACAC | intron_variant | MODIFIER | HG02622.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0026 | a0001c0001t0022g0032 a0001c0001t0026g0021 |
2 | 46 | 0.0435 | 6 | c.210 others(25): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115350334 | C | CAAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01071.hp1 others(11): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(3): Show | a0001c0002t0001g0039 a0001c0002t0001g0046 a0001c0002t0001g0048 others(11): Show |
14 | 100 | 0.1400 | 6 | 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 | 115445513 | G | GTGTGTA | intron_variant | MODIFIER | HG00639.hp2 HG02717.hp1 HG02896.hp1 others(4): Show |
a0001 | a0001c0005a0001c0007 | a0001c0005t0007a0001c0005t0018a0001c0005t0021others(2): Show | a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 others(4): Show |
7 | 126 | 0.0556 | 6 | c.332 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115448854 | C | CCAACAA | intron_variant | MODIFIER | HG01109.hp2 HG02280.hp1 HG02572.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0022others(12): Show | a0001c0001t0001g0112 a0001c0001t0015g0062 a0001c0001t0022g0032 others(14): Show |
17 | 88 | 0.1932 | 6 | c.332 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115480207 | A | AACACAC | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp1 HG02630.hp1 others(5): Show |
a0001 | a0001c0001a0001c0006a0001c0007 | a0001c0001t0007a0001c0001t0008a0001c0001t0010others(4): Show | a0001c0001t0007g0027 a0001c0001t0008g0030 a0001c0001t0010g0033 others(5): Show |
8 | 59 | 0.1356 | 6 | c.365 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 24/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115521138 | T | TTTGTTG | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00738.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0011a0001c0001t0035a0001c0002t0001others(22): Show | a0001c0001t0011g0114 a0001c0001t0035g0120 a0001c0002t0001g0039 others(40): Show |
43 | 79 | 0.5443 | 6 | c.371 others(25): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115559443 | T | TGCGCGC | intron_variant | MODIFIER | HG01943.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0073 a0001c0001t0014g0001 |
2 | 28 | 0.0714 | 6 | c.379 others(25): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115559454 | A | ACACGCG | intron_variant | MODIFIER | HG03195.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0043 | a0001c0001t0015g0062 a0001c0001t0043g0098 |
2 | 45 | 0.0444 | 6 | c.379 others(25): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115561669 | C | CTGTGTG | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01081.hp2 others(27): Show |
a0001 | a0001c0001a0001c0005a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0066 others(27): Show |
30 | 123 | 0.2439 | 6 | c.379 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115561686 | T | TGTGTGG | intron_variant | MODIFIER | HG00741.hp1 HG01361.hp1 HG02572.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0015 | a0001c0002t0005a0001c0003t0001a0001c0003t0047others(1): Show | a0001c0002t0005g0051 a0001c0002t0005g0055 a0001c0003t0001g0086 others(2): Show |
5 | 126 | 0.0397 | 6 | c.379 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115577610 | T | TTGTGTG | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01071.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0008a0001c0002t0001a0001c0002t0005others(7): Show | a0001c0001t0008g0013 a0001c0001t0008g0081 a0001c0002t0001g0043 others(8): Show |
11 | 23 | 0.4783 | 6 | c.379 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115611054 | C | CTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01071.hp2 others(38): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0066 others(38): Show |
41 | 119 | 0.3445 | 6 | c.379 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115621254 | A | AATATAT | intron_variant | MODIFIER | HG00639.hp1 HG02132.hp2 HG02135.hp1 others(3): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0007a0001c0012t0001 | a0001c0001t0001g0053 a0001c0001t0001g0066 a0001c0001t0001g0105 others(3): Show |
6 | 98 | 0.0612 | 6 | c.379 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115621276 | T | TATATAG | intron_variant | MODIFIER | HG00741.hp2 HG01123.hp1 HG02015.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0016 | a0001c0001t0001a0001c0001t0003a0001c0001t0046others(2): Show | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0003g0064 others(3): Show |
6 | 85 | 0.0706 | 6 | c.379 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115628520 | A | ATAGATT | intron_variant | MODIFIER | HG00639.hp1 HG03239.hp2 |
a0001 | a0001c0012a0001c0013 | a0001c0012t0001a0001c0013t0009 | a0001c0012t0001g0070 a0001c0013t0009g0079 |
2 | 124 | 0.0161 | 6 | c.379 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115630845 | C | CACACAG | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02280.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0008a0001c0001t0013others(4): Show | a0001c0001t0002g0014 a0001c0001t0008g0023 a0001c0001t0013g0018 others(4): Show |
7 | 115 | 0.0609 | 6 | c.379 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115637603 | C | CTATTAT | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01071.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(14): Show | a0001c0001t0001g0053 a0001c0001t0001g0066 a0001c0001t0001g0105 others(20): Show |
23 | 44 | 0.5227 | 6 | c.379 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115646036 | T | TACACAC | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG00741.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0010a0001c0002t0001a0001c0002t0004others(14): Show | a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0002t0001g0039 others(30): Show |
33 | 48 | 0.6875 | 6 | c.379 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115682669 | T | TATGATG | intron_variant | MODIFIER | HG02809.hp2 HG03579.hp2 |
a0001 | a0001c0003 | a0001c0003t0015a0001c0003t0038 | a0001c0003t0015g0124 a0001c0003t0038g0122 |
2 | 97 | 0.0206 | 6 | c.379 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |