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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP2B2_chr3_10319023_10510586 | 10488463 | A | ATTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00639.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0166 a0001c0001t0001g0226 a0001c0001t0001g0234 others(46): Show |
49 | 203 | 0.2414 | 8 | c.-32 others(29): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10488511 | C | CTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG02074.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0003a0001c0001t0013a0001c0001t0015others(8): Show | a0001c0001t0003g0218 a0001c0001t0013g0258 a0001c0001t0015g0106 others(8): Show |
11 | 156 | 0.0705 | 8 | c.-32 others(29): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ATP2B3_chrX_153512642_153587929 | 153571003 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01106.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0004a0001c0001t0005a0001c0001t0032others(5): Show | a0001c0001t0004g0018 a0001c0001t0005g0158 a0001c0001t0032g0206 others(7): Show |
11 | 47 | 0.2340 | 8 | c.334 others(27): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203633713 | G | GATAAATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(224): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0015 others(224): Show |
227 | 237 | 0.9578 | 8 | c.-46 others(27): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203717626 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG02109.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0002g0153 a0001c0001t0004g0244 a0001c0001t0006g0005 others(16): Show |
19 | 101 | 0.1881 | 8 | c.240 others(27): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203719721 | T | TATAAATA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0015others(8): Show | a0001c0001t0003g0001 a0001c0001t0005g0132 a0001c0001t0015g0052 others(12): Show |
16 | 203 | 0.0788 | 8 | c.240 others(25): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203723420 | A | ATCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01243.hp2 HG01258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0002g0153 a0001c0001t0004g0172 a0001c0001t0004g0255 others(4): Show |
7 | 203 | 0.0345 | 8 | c.302 others(25): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203723457 | T | TCTCCCTC others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01168.hp1 HG01169.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0297 others(23): Show |
26 | 249 | 0.1044 | 8 | c.302 others(25): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203744827 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01346.hp1 HG06807.hp1 NA19002.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0012a0001c0004t0004a0001c0004t0027 | a0001c0001t0012g0230 a0001c0004t0004g0279 a0001c0004t0027g0228 |
3 | 211 | 0.0142 | 8 | c.*49 others(19): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 747 | chr1 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203745269 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02451.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0036others(6): Show | a0001c0001t0001g0154 a0001c0001t0002g0051 a0001c0001t0036g0118 others(12): Show |
15 | 90 | 0.1667 | 8 | c.*54 others(19): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1189 | chr1 | TogoVar | |||||||
ATP2C1_chr3_130889084_131008150 | 130941222 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01346.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0083 a0001c0003t0001g0098 a0001c0003t0001g0099 others(2): Show |
5 | 371 | 0.0135 | 8 | c.423 others(23): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 7/27 | chr3 | TogoVar | |||||||
ATP2C1_chr3_130889084_131008150 | 130941252 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00735.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0092 a0001c0001t0001g0104 a0001c0001t0001g0150 others(29): Show |
32 | 364 | 0.0879 | 8 | c.423 others(23): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130941254 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02257.hp1 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(5): Show |
8 | 378 | 0.0212 | 8 | c.423 others(23): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130953076 | C | CGTATGTA others(1): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03579.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0150 a0001c0001t0001g0153 |
3 | 178 | 0.0169 | 8 | c.532 others(23): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130970369 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00609.hp2 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0097 a0001c0001t0001g0114 others(36): Show |
40 | 110 | 0.3636 | 8 | c.141 others(27): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 17/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP5F1A_chr18_46075248_46103296 | 46096500 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01943.hp2 HG02004.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0038a0001c0001t0091a0001c0001t0096others(5): Show | a0001c0001t0038g0243 a0001c0001t0091g0205 a0001c0001t0096g0229 others(7): Show |
14 | 278 | 0.0504 | 8 | c.61- others(23): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 1/11 | chr18 | TogoVar | |||||||
ATP5F1E_chr20_59020475_59037335 | 59022000 | T | TAAACAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG02293.hp1 HG03491.hp1 NA18969.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0003g0004 |
9 | 400 | 0.0225 | 8 | c.*68 others(19): Show |
ATP5F1E | ENSG00000124172.10 | transcript | ENST00000243997.8 | protein_coding | 3474 | chr20 | TogoVar | |||||||
ATP5F1E_chr20_59020475_59037335 | 59022004 | T | TAAACAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp1 others(75): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(7): Show |
78 | 288 | 0.2708 | 8 | c.*68 others(19): Show |
ATP5F1E | ENSG00000124172.10 | transcript | ENST00000243997.8 | protein_coding | 3470 | chr20 | TogoVar | |||||||
ATP5F1E_chr20_59020475_59037335 | 59022008 | T | TAAACAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0001 a0001c0001t0023g0041 |
3 | 97 | 0.0309 | 8 | c.*68 others(19): Show |
ATP5F1E | ENSG00000124172.10 | transcript | ENST00000243997.8 | protein_coding | 3466 | chr20 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53664344 | A | AAAATAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(206): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(92): Show |
209 | 293 | 0.7133 | 8 | c.*96 others(17): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 825 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53667956 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01261.hp2 HG01433.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0172 others(2): Show |
5 | 203 | 0.0246 | 8 | c.311 others(25): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53669016 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01106.hp2 HG01255.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0144 a0001c0001t0001g0145 |
4 | 392 | 0.0102 | 8 | c.311 others(23): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53672083 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(105): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0014 others(34): Show |
108 | 175 | 0.6171 | 8 | c.39+ others(21): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53673319 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01257.hp1 others(36): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0022 others(20): Show |
39 | 211 | 0.1848 | 8 | c.-31 others(23): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53679238 | C | CGAGAGAG others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG01099.hp2 HG01106.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(12): Show |
22 | 63 | 0.3492 | 8 | c.-32 others(19): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 3156 | chr12 | TogoVar | |||||||
ATP5MF_chr7_99453195_99471167 | 99457842 | C | CATCCGAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01175.hp1 others(33): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0002 | a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0001g0053 others(21): Show |
36 | 344 | 0.1047 | 8 | c.*48 others(17): Show |
ATP5MF | ENSG00000241468.8 | transcript | ENST00000292475.8 | protein_coding | 352 | chr7 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103908165 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG01256.hp2 HG01993.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0002g0012 a0001c0001t0004g0048 a0001c0001t0004g0049 others(3): Show |
10 | 233 | 0.0429 | 8 | c.*45 others(19): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 4122 | chr14 | TogoVar | |||||||
ATP5PO_chr21_33898453_33920804 | 33911662 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00735.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0032 a0001c0001t0001g0060 others(3): Show |
17 | 112 | 0.1518 | 8 | c.198 others(23): Show |
ATP5PO | ENSG00000241837.7 | transcript | ENST00000290299.7 | protein_coding | 3/6 | chr21 | TogoVar | |||||||
ATP6V0A1_chr17_42453878_42527579 | 42486452 | G | GTAAAATG others(1): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03540.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0150 a0001c0001t0001g0153 |
3 | 318 | 0.0094 | 8 | c.811 others(23): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATP6V0A2_chr12_123707353_123766755 | 123712061 | T | TCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02559.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0019a0001c0006t0011 | a0001c0001t0019g0192 a0001c0001t0019g0193 a0001c0006t0011g0184 others(1): Show |
4 | 122 | 0.0328 | 8 | c.-50 others(17): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 291 | chr12 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123712076 | C | CACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG02717.hp1 HG02896.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 others(2): Show |
5 | 208 | 0.0240 | 8 | c.-49 others(17): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 276 | chr12 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123735142 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG01074.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0004 | a0001c0001t0001a0001c0001t0014a0001c0001t0025others(4): Show | a0001c0001t0001g0052 a0001c0001t0001g0077 a0001c0001t0001g0080 others(15): Show |
20 | 81 | 0.2469 | 8 | c.732 others(23): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP6V0A2_chr12_123707353_123766755 | 123740145 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01074.hp2 HG01081.hp2 others(32): Show |
a0001a0006a0008others(1): Show | a0001c0001a0001c0011a0006c0010others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0030others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0022 others(29): Show |
35 | 119 | 0.2941 | 8 | c.103 others(27): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP6V0A2_chr12_123707353_123766755 | 123765564 | T | TTATCTAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00609.hp2 others(40): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0016others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 others(38): Show |
43 | 83 | 0.5181 | 8 | c.*75 others(19): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 3810 | chr12 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123766287 | G | GCCTACCT others(1): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG01256.hp2 HG02257.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(3): Show | a0001c0001t0001g0029 a0001c0001t0005g0038 a0001c0001t0005g0039 others(15): Show |
18 | 176 | 0.1023 | 8 | c.*82 others(19): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 4533 | chr12 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138708017 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01257.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0218 a0001c0001t0001g0299 a0001c0001t0001g0313 others(8): Show |
11 | 240 | 0.0458 | 8 | c.243 others(27): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 21/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138718201 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00733.hp2 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0072 a0001c0001t0001g0260 a0001c0001t0001g0261 others(25): Show |
28 | 273 | 0.1026 | 8 | c.214 others(27): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138728153 | A | ATAAATCA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(93): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0008others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0058 others(93): Show |
96 | 374 | 0.2567 | 8 | c.201 others(25): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 18/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138730341 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01516.hp1 HG01517.hp1 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0004others(6): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(6): Show | a0001c0001t0001g0180 a0001c0001t0001g0279 a0001c0001t0001g0282 others(14): Show |
17 | 69 | 0.2464 | 8 | c.190 others(27): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 17/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138731901 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02922.hp1 HG03669.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0030a0002c0002 | a0001c0001t0001a0001c0030t0001a0002c0002t0001 | a0001c0001t0001g0071 a0001c0001t0001g0092 a0001c0001t0001g0106 others(3): Show |
6 | 211 | 0.0284 | 8 | c.190 others(25): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 17/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138736091 | A | AACAAACA others(1): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03209.hp1 HG03579.hp1 others(1): Show |
a0001a0003a0004others(1): Show | a0001c0005a0003c0031a0004c0011others(1): Show | a0001c0005t0002a0003c0031t0006a0004c0011t0001others(1): Show | a0001c0005t0002g0359 a0003c0031t0006g0344 a0004c0011t0001g0063 others(1): Show |
4 | 372 | 0.0108 | 8 | c.157 others(27): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 15/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138758739 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00733.hp1 HG01109.hp1 others(16): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0001c0007others(6): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(8): Show | a0001c0001t0001g0153 a0001c0001t0001g0178 a0001c0001t0001g0184 others(16): Show |
19 | 32 | 0.5938 | 8 | c.639 others(25): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 8/21 | chr7 | TogoVar | |||||||
ATP6V0C_chr16_2508952_2525218 | 2517713 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02523.hp2 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0059 others(1): Show |
5 | 73 | 0.0685 | 8 | c.80- others(23): Show |
ATP6V0C | ENSG00000185883.12 | transcript | ENST00000330398.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86104850 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02622.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0006t0001a0002c0002t0001 | a0001c0001t0001g0038 a0001c0001t0001g0282 a0001c0001t0001g0290 others(10): Show |
13 | 150 | 0.0867 | 8 | c.130 others(25): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86126236 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01074.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0089 others(3): Show |
6 | 70 | 0.0857 | 8 | c.302 others(27): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86145195 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02027.hp2 HG02300.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0158 a0001c0001t0002g0180 a0001c0001t0002g0256 others(2): Show |
5 | 347 | 0.0144 | 8 | c.639 others(25): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86145368 | A | AAAGAAAA others(1): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02922.hp2 HG03139.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0097 a0001c0001t0001g0126 others(4): Show |
7 | 236 | 0.0297 | 8 | c.639 others(25): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | chr8 | TogoVar | |||||||
ATP6V0E1_chr5_172978771_173040445 | 172981383 | G | GAGGAAGG others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG01109.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0024 others(16): Show |
20 | 141 | 0.1418 | 8 | c.-24 others(19): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 2387 | chr5 | TogoVar | |||||||
ATP6V0E1_chr5_172978771_173040445 | 173030921 | G | GTATTTAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01123.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0016 others(15): Show |
19 | 115 | 0.1652 | 8 | c.*37 others(25): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATP6V1A_chr3_113742035_113817056 | 113772933 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01952.hp1 HG02273.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0137 a0001c0001t0003g0120 a0001c0001t0003g0121 others(7): Show |
11 | 157 | 0.0701 | 8 | c.-13 others(25): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |